## ENSEMBL VARIANT EFFECT PREDICTOR v78
## Output produced at 2015-01-30 12:57:40
## Connected to homo_sapiens_core_78_38 on ensembldb.ensembl.org
## Using cache in /nfs/users/nfs_w/wm2/.vep/homo_sapiens/78_GRCh38
## Using API version 78, DB version 78
## sift version sift5.0.2
## polyphen version 2.2.2
## Extra column keys:
## DISTANCE : Shortest distance from variant to transcript
## STRAND : Strand of the feature (1/-1)
## SYMBOL : Gene symbol (e.g. HGNC)
## SYMBOL_SOURCE : Source of gene symbol
## HGNC_ID : Stable identifer of HGNC gene symbol
## BIOTYPE : Biotype of transcript or regulatory feature
## CANONICAL : Indicates if transcript is canonical for this gene
## TSL : Transcript support level
## CCDS : Indicates if transcript is a CCDS transcript
## ENSP : Ensembl protein identifer
## SWISSPROT : UniProtKB/Swiss-Prot identifier
## TREMBL : UniProtKB/TrEMBL identifier
## UNIPARC : UniParc identifier
## SIFT : SIFT prediction and/or score
## PolyPhen : PolyPhen prediction and/or score
## EXON : Exon number(s) / total
## INTRON : Intron number(s) / total
## DOMAINS : The source and identifer of any overlapping protein domains
## HGVSc : HGVS coding sequence name
## HGVSp : HGVS protein sequence name
## GMAF : Minor allele and frequency of existing variant in 1000 Genomes Phase 1 combined population
## AFR_MAF : Frequency of existing variant in 1000 Genomes Phase 1 combined African population
## AMR_MAF : Frequency of existing variant in 1000 Genomes Phase 1 combined American population
## ASN_MAF : Frequency of existing variant in 1000 Genomes Phase 1 combined Asian population
## EAS_MAF : Frequency of existing variant in 1000 Genomes Phase 1 combined East Asian population
## EUR_MAF : Frequency of existing variant in 1000 Genomes Phase 1 combined European population
## SAS_MAF : Frequency of existing variant in 1000 Genomes Phase 1 combined South Asian population
## AA_MAF : Frequency of existing variant in NHLBI-ESP African American population
## EA_MAF : Frequency of existing variant in NHLBI-ESP European American population
## CLIN_SIG : Clinical significance of variant from dbSNP
## SOMATIC : Somatic status of existing variant
## PUBMED : Pubmed ID(s) of publications that cite existing variant
## MOTIF_NAME : The source and identifier of a transcription factor binding profile (TFBP) aligned at this position
## MOTIF_POS : The relative position of the variation in the aligned TFBP
## HIGH_INF_POS : A flag indicating if the variant falls in a high information position of the TFBP
## MOTIF_SCORE_CHANGE : The difference in motif score of the reference and variant sequences for the TFBP
#Uploaded_variation	Location	Allele	Gene	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	Extra
rs116645811	21:25587758	A	ENSG00000260583	ENST00000567517	Transcript	upstream_gene_variant	-	-	-	-	-	rs116645811	DISTANCE=4432;STRAND=-1;SYMBOL=LINC00515;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16019;BIOTYPE=antisense;CANONICAL=YES;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.000227;EA_MAF=A:0
rs116645811	21:25587758	A	ENSG00000154719	ENST00000352957	Transcript	intron_variant	-	-	-	-	-	rs116645811	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;INTRON=9/9;HGVSc=ENST00000352957.6:c.969+1077C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.000227;EA_MAF=A:0
rs116645811	21:25587758	A	ENSG00000154719	ENST00000307301	Transcript	missense_variant	1043	1001	334	T/M	aCg/aTg	rs116645811	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;SIFT=tolerated(0.05);PolyPhen=benign(0.001);EXON=10/11;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000307301.9:c.1001C>T;HGVSp=ENSP00000305682.7:p.Thr334Met;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.000227;EA_MAF=A:0
rs1135638	21:25592836	A	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	876	867	289	G	ggC/ggT	rs1135638	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=8/8;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000419219.1:c.867C>T;HGVSp=ENST00000419219.1:c.867C>T(p.%3D);GMAF=G:0.2392;AFR_MAF=A:0.72;AMR_MAF=A:0.80;ASN_MAF=A:0.71;EUR_MAF=A:0.80;AA_MAF=A:0.750567;EA_MAF=A:0.826860
rs1135638	21:25592836	A	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	939	897	299	G	ggC/ggT	rs1135638	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=8/10;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000352957.6:c.897C>T;HGVSp=ENST00000352957.6:c.897C>T(p.%3D);GMAF=G:0.2392;AFR_MAF=A:0.72;AMR_MAF=A:0.80;ASN_MAF=A:0.71;EUR_MAF=A:0.80;AA_MAF=A:0.750567;EA_MAF=A:0.826860
rs1135638	21:25592836	A	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	939	897	299	G	ggC/ggT	rs1135638	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=8/11;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000307301.9:c.897C>T;HGVSp=ENST00000307301.9:c.897C>T(p.%3D);GMAF=G:0.2392;AFR_MAF=A:0.72;AMR_MAF=A:0.80;ASN_MAF=A:0.71;EUR_MAF=A:0.80;AA_MAF=A:0.750567;EA_MAF=A:0.826860
rs10576	21:25592860	C	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	852	843	281	P	ccA/ccG	rs10576	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=8/8;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000419219.1:c.843A>G;HGVSp=ENST00000419219.1:c.843A>G(p.%3D);GMAF=C:0.0115;AFR_MAF=C:0.04;AMR_MAF=C:0.01;AA_MAF=C:0.026101;EA_MAF=C:0.000116
rs10576	21:25592860	C	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	915	873	291	P	ccA/ccG	rs10576	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=8/10;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000352957.6:c.873A>G;HGVSp=ENST00000352957.6:c.873A>G(p.%3D);GMAF=C:0.0115;AFR_MAF=C:0.04;AMR_MAF=C:0.01;AA_MAF=C:0.026101;EA_MAF=C:0.000116
rs10576	21:25592860	C	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	915	873	291	P	ccA/ccG	rs10576	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=8/11;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000307301.9:c.873A>G;HGVSp=ENST00000307301.9:c.873A>G(p.%3D);GMAF=C:0.0115;AFR_MAF=C:0.04;AMR_MAF=C:0.01;AA_MAF=C:0.026101;EA_MAF=C:0.000116
rs1057885	21:25592893	C	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	819	810	270	V	gtA/gtG	rs1057885	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=8/8;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000419219.1:c.810A>G;HGVSp=ENST00000419219.1:c.810A>G(p.%3D);GMAF=T:0.2392;AFR_MAF=C:0.72;AMR_MAF=C:0.80;ASN_MAF=C:0.71;EUR_MAF=C:0.80;AA_MAF=C:0.750794;EA_MAF=C:0.826860
rs1057885	21:25592893	C	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	882	840	280	V	gtA/gtG	rs1057885	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=8/10;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000352957.6:c.840A>G;HGVSp=ENST00000352957.6:c.840A>G(p.%3D);GMAF=T:0.2392;AFR_MAF=C:0.72;AMR_MAF=C:0.80;ASN_MAF=C:0.71;EUR_MAF=C:0.80;AA_MAF=C:0.750794;EA_MAF=C:0.826860
rs1057885	21:25592893	C	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	882	840	280	V	gtA/gtG	rs1057885	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=8/11;DOMAINS=Superfamily_domains:SSF55186;HGVSc=ENST00000307301.9:c.840A>G;HGVSp=ENST00000307301.9:c.840A>G(p.%3D);GMAF=T:0.2392;AFR_MAF=C:0.72;AMR_MAF=C:0.80;ASN_MAF=C:0.71;EUR_MAF=C:0.80;AA_MAF=C:0.750794;EA_MAF=C:0.826860
rs116331755	21:25603832	G	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	393	384	128	L	ctT/ctC	rs116331755	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=3/8;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000419219.1:c.384T>C;HGVSp=ENST00000419219.1:c.384T>C(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041;AA_MAF=G:0.000227;EA_MAF=G:0
rs116331755	21:25603832	G	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	426	384	128	L	ctT/ctC	rs116331755	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=3/10;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000352957.6:c.384T>C;HGVSp=ENST00000352957.6:c.384T>C(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041;AA_MAF=G:0.000227;EA_MAF=G:0
rs116331755	21:25603832	G	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	426	384	128	L	ctT/ctC	rs116331755	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=3/11;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000307301.9:c.384T>C;HGVSp=ENST00000307301.9:c.384T>C(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041;AA_MAF=G:0.000227;EA_MAF=G:0
rs7278168	21:25603910	T	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	315	306	102	K	aaG/aaA	rs7278168	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=3/8;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000419219.1:c.306G>A;HGVSp=ENST00000419219.1:c.306G>A(p.%3D);GMAF=T:0.1143;AFR_MAF=T:0.24;AMR_MAF=T:0.14;ASN_MAF=T:0.14;EUR_MAF=T:0.0026;AA_MAF=T:0.205629;EA_MAF=T:0.001977
rs7278168	21:25603910	T	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	348	306	102	K	aaG/aaA	rs7278168	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=3/10;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000352957.6:c.306G>A;HGVSp=ENST00000352957.6:c.306G>A(p.%3D);GMAF=T:0.1143;AFR_MAF=T:0.24;AMR_MAF=T:0.14;ASN_MAF=T:0.14;EUR_MAF=T:0.0026;AA_MAF=T:0.205629;EA_MAF=T:0.001977
rs7278168	21:25603910	T	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	348	306	102	K	aaG/aaA	rs7278168	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=3/11;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000307301.9:c.306G>A;HGVSp=ENST00000307301.9:c.306G>A(p.%3D);GMAF=T:0.1143;AFR_MAF=T:0.24;AMR_MAF=T:0.14;ASN_MAF=T:0.14;EUR_MAF=T:0.0026;AA_MAF=T:0.205629;EA_MAF=T:0.001977
rs7278284	21:25603925	T	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	300	291	97	E	gaG/gaA	rs7278284	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=3/8;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000419219.1:c.291G>A;HGVSp=ENST00000419219.1:c.291G>A(p.%3D);GMAF=T:0.1217;AFR_MAF=T:0.27;AMR_MAF=T:0.14;ASN_MAF=T:0.14;EUR_MAF=T:0.0026;AA_MAF=T:0.226282;EA_MAF=T:0.002209
rs7278284	21:25603925	T	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	333	291	97	E	gaG/gaA	rs7278284	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=3/10;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000352957.6:c.291G>A;HGVSp=ENST00000352957.6:c.291G>A(p.%3D);GMAF=T:0.1217;AFR_MAF=T:0.27;AMR_MAF=T:0.14;ASN_MAF=T:0.14;EUR_MAF=T:0.0026;AA_MAF=T:0.226282;EA_MAF=T:0.002209
rs7278284	21:25603925	T	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	333	291	97	E	gaG/gaA	rs7278284	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=3/11;DOMAINS=Superfamily_domains:SSF81271;HGVSc=ENST00000307301.9:c.291G>A;HGVSp=ENST00000307301.9:c.291G>A(p.%3D);GMAF=T:0.1217;AFR_MAF=T:0.27;AMR_MAF=T:0.14;ASN_MAF=T:0.14;EUR_MAF=T:0.0026;AA_MAF=T:0.226282;EA_MAF=T:0.002209
rs75377686	21:25606478	C	ENSG00000154719	ENST00000419219	Transcript	missense_variant	260	251	84	N/S	aAc/aGc	rs75377686	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;SIFT=tolerated(0.23);PolyPhen=possibly_damaging(0.476);EXON=2/8;HGVSc=ENST00000419219.1:c.251A>G;HGVSp=ENSP00000404426.1:p.Asn84Ser;GMAF=C:0.0115;AFR_MAF=C:0.04;AMR_MAF=C:0.01;AA_MAF=C:0.026328;EA_MAF=C:0.000116
rs75377686	21:25606478	C	ENSG00000154719	ENST00000352957	Transcript	missense_variant	293	251	84	N/S	aAc/aGc	rs75377686	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;SIFT=tolerated(0.25);PolyPhen=benign(0.384);EXON=2/10;HGVSc=ENST00000352957.6:c.251A>G;HGVSp=ENSP00000284967.6:p.Asn84Ser;GMAF=C:0.0115;AFR_MAF=C:0.04;AMR_MAF=C:0.01;AA_MAF=C:0.026328;EA_MAF=C:0.000116
rs75377686	21:25606478	C	ENSG00000154719	ENST00000307301	Transcript	missense_variant	293	251	84	N/S	aAc/aGc	rs75377686	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;SIFT=tolerated(0.19);PolyPhen=benign(0.406);EXON=2/11;HGVSc=ENST00000307301.9:c.251A>G;HGVSp=ENSP00000305682.7:p.Asn84Ser;GMAF=C:0.0115;AFR_MAF=C:0.04;AMR_MAF=C:0.01;AA_MAF=C:0.026328;EA_MAF=C:0.000116
rs3989369	21:25606638	G	ENSG00000154719	ENST00000419219	Transcript	missense_variant	100	91	31	S/P	Tca/Cca	rs3989369	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;SIFT=tolerated(1);PolyPhen=benign(0);EXON=2/8;HGVSc=ENST00000419219.1:c.91T>C;HGVSp=ENSP00000404426.1:p.Ser31Pro;GMAF=A:0.0859;AFR_MAF=G:0.75;AMR_MAF=G:0.94;ASN_MAF=G:0.97;EUR_MAF=G:0.96;AA_MAF=G:0.797549;EA_MAF=G:0.958023
rs3989369	21:25606638	G	ENSG00000154719	ENST00000352957	Transcript	missense_variant	133	91	31	S/P	Tca/Cca	rs3989369	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;SIFT=tolerated(1);PolyPhen=benign(0);EXON=2/10;HGVSc=ENST00000352957.6:c.91T>C;HGVSp=ENSP00000284967.6:p.Ser31Pro;GMAF=A:0.0859;AFR_MAF=G:0.75;AMR_MAF=G:0.94;ASN_MAF=G:0.97;EUR_MAF=G:0.96;AA_MAF=G:0.797549;EA_MAF=G:0.958023
rs3989369	21:25606638	G	ENSG00000154719	ENST00000307301	Transcript	missense_variant	133	91	31	S/P	Tca/Cca	rs3989369	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;SIFT=tolerated(1);PolyPhen=benign(0.002);EXON=2/11;HGVSc=ENST00000307301.9:c.91T>C;HGVSp=ENSP00000305682.7:p.Ser31Pro;GMAF=A:0.0859;AFR_MAF=G:0.75;AMR_MAF=G:0.94;ASN_MAF=G:0.97;EUR_MAF=G:0.96;AA_MAF=G:0.797549;EA_MAF=G:0.958023
rs61735760	21:25607440	T	ENSG00000154719	ENST00000419219	Transcript	synonymous_variant	45	36	12	R	cgG/cgA	rs61735760	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000404426;TREMBL=C9JG87;UNIPARC=UPI0000E5A387;EXON=1/8;HGVSc=ENST00000419219.1:c.36G>A;HGVSp=ENST00000419219.1:c.36G>A(p.%3D);GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.02;AA_MAF=T:0.050613;EA_MAF=T:0.000465
rs61735760	21:25607440	T	ENSG00000154719	ENST00000352957	Transcript	synonymous_variant	78	36	12	R	cgG/cgA	rs61735760	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13573.1;ENSP=ENSP00000284967;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEE66;EXON=1/10;HGVSc=ENST00000352957.6:c.36G>A;HGVSp=ENST00000352957.6:c.36G>A(p.%3D);GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.02;AA_MAF=T:0.050613;EA_MAF=T:0.000465
rs61735760	21:25607440	T	ENSG00000154719	ENST00000307301	Transcript	synonymous_variant	78	36	12	R	cgG/cgA	rs61735760	STRAND=-1;SYMBOL=MRPL39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14027;BIOTYPE=protein_coding;CANONICAL=YES;TSL=5;CCDS=CCDS33522.1;ENSP=ENSP00000305682;SWISSPROT=Q9NYK5;UNIPARC=UPI00001AEAC0;EXON=1/11;HGVSc=ENST00000307301.9:c.36G>A;HGVSp=ENST00000307301.9:c.36G>A(p.%3D);GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.02;AA_MAF=T:0.050613;EA_MAF=T:0.000465
rs61735760	21:25607440	T	-	ENSR00001406870	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs61735760	BIOTYPE=promoter;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.02;AA_MAF=T:0.050613;EA_MAF=T:0.000465
rs115683257	21:32650278	A	ENSG00000159082	ENST00000416083	Transcript	upstream_gene_variant	-	-	-	-	-	rs115683257,COSM3799866,COSM3799865	DISTANCE=4559;STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000413480;UNIPARC=UPI000066D9AF;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs115683257	21:32650278	A	ENSG00000159082	ENST00000382499	Transcript	missense_variant	3060	3060	1020	M/I	atG/atT	rs115683257,COSM3799866,COSM3799865	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33540.2;ENSP=ENSP00000371939;TREMBL=C9JFZ1,C9J1Z6;UNIPARC=UPI000198C848;SIFT=tolerated(1);PolyPhen=benign(0.009);EXON=23/33;DOMAINS=Pfam_domain:PF08952;HGVSc=ENST00000382499.4:c.3060G>T;HGVSp=ENSP00000371939.2:p.Met1020Ile;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs115683257	21:32650278	A	ENSG00000159082	ENST00000438952	Transcript	upstream_gene_variant	-	-	-	-	-	rs115683257,COSM3799866,COSM3799865	DISTANCE=4568;STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000388869;UNIPARC=UPI000198C84A;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs115683257	21:32650278	A	ENSG00000159082	ENST00000382491	Transcript	missense_variant	3045	2928	976	M/I	atG/atT	rs115683257,COSM3799866,COSM3799865	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371931;TREMBL=C9JW66,C9J1Z6;UNIPARC=UPI000387AF41;SIFT=tolerated(1);PolyPhen=benign(0.043);EXON=22/29;DOMAINS=Pfam_domain:PF08952;HGVSc=ENST00000382491.5:c.2928G>T;HGVSp=ENSP00000371931.4:p.Met976Ile;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs115683257	21:32650278	A	ENSG00000159082	ENST00000433931	Transcript	missense_variant	3068	3060	1020	M/I	atG/atT	rs115683257,COSM3799866,COSM3799865	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33539.2;ENSP=ENSP00000409667;TREMBL=J3KQV8,C9J1Z6;UNIPARC=UPI0001A47572;SIFT=tolerated(0.71);PolyPhen=benign(0.026);EXON=23/32;DOMAINS=Pfam_domain:PF08952;HGVSc=ENST00000433931.4:c.3060G>T;HGVSp=ENSP00000409667.2:p.Met1020Ile;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs115683257	21:32650278	A	ENSG00000159082	ENST00000357345	Transcript	missense_variant	3068	2943	981	M/I	atG/atT	rs115683257,COSM3799866,COSM3799865	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS54483.1;ENSP=ENSP00000349903;SWISSPROT=O43426;TREMBL=B4DIP0,C9J1Z6;UNIPARC=UPI000034ECCC;SIFT=tolerated(1);PolyPhen=benign(0.001);EXON=23/32;DOMAINS=Pfam_domain:PF08952;HGVSc=ENST00000357345.5:c.2943G>T;HGVSp=ENSP00000349903.3:p.Met981Ile;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs115683257	21:32650278	A	ENSG00000159082	ENST00000467445	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	883	-	-	-	-	rs115683257,COSM3799866,COSM3799865	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=retained_intron;TSL=3;EXON=2/2;HGVSc=ENST00000467445.1:n.883G>T;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.007036;EA_MAF=A:0;SOMATIC=0,1,1
rs114053718	21:32656885	G	ENSG00000159082	ENST00000382499	Transcript	missense_variant	2714	2714	905	I/T	aTt/aCt	rs114053718	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33540.2;ENSP=ENSP00000371939;TREMBL=C9JFZ1,C9J1Z6;UNIPARC=UPI000198C848;SIFT=deleterious(0);PolyPhen=benign(0.365);EXON=21/33;DOMAINS=SMART_domains:SM00128,Superfamily_domains:SSF56219;HGVSc=ENST00000382499.4:c.2714T>C;HGVSp=ENSP00000371939.2:p.Ile905Thr;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000681;EA_MAF=G:0
rs114053718	21:32656885	G	ENSG00000159082	ENST00000382491	Transcript	missense_variant	2699	2582	861	I/T	aTt/aCt	rs114053718	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371931;TREMBL=C9JW66,C9J1Z6;UNIPARC=UPI000387AF41;SIFT=deleterious(0);PolyPhen=unknown(0);EXON=20/29;DOMAINS=SMART_domains:SM00128,Superfamily_domains:SSF56219;HGVSc=ENST00000382491.5:c.2582T>C;HGVSp=ENSP00000371931.4:p.Ile861Thr;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000681;EA_MAF=G:0
rs114053718	21:32656885	G	ENSG00000159082	ENST00000433931	Transcript	missense_variant	2722	2714	905	I/T	aTt/aCt	rs114053718	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33539.2;ENSP=ENSP00000409667;TREMBL=J3KQV8,C9J1Z6;UNIPARC=UPI0001A47572;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.81);EXON=21/32;DOMAINS=SMART_domains:SM00128,Superfamily_domains:SSF56219;HGVSc=ENST00000433931.4:c.2714T>C;HGVSp=ENSP00000409667.2:p.Ile905Thr;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000681;EA_MAF=G:0
rs114053718	21:32656885	G	ENSG00000159082	ENST00000357345	Transcript	missense_variant	2722	2597	866	I/T	aTt/aCt	rs114053718	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS54483.1;ENSP=ENSP00000349903;SWISSPROT=O43426;TREMBL=B4DIP0,C9J1Z6;UNIPARC=UPI000034ECCC;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.568);EXON=21/32;DOMAINS=Superfamily_domains:SSF56219,SMART_domains:SM00128;HGVSc=ENST00000357345.5:c.2597T>C;HGVSp=ENSP00000349903.3:p.Ile866Thr;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000681;EA_MAF=G:0
rs114053718	21:32656885	G	ENSG00000159082	ENST00000467445	Transcript	upstream_gene_variant	-	-	-	-	-	rs114053718	DISTANCE=2784;STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=retained_intron;TSL=3;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000681;EA_MAF=G:0
rs114053718	21:32656885	G	ENSG00000159082	ENST00000464778	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	384	-	-	-	-	rs114053718	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000464778.1:n.384T>C;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000681;EA_MAF=G:0
rs114942253	21:32685836	T	ENSG00000159082	ENST00000382499	Transcript	missense_variant	1147	1147	383	A/T	Gca/Aca	rs114942253	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33540.2;ENSP=ENSP00000371939;TREMBL=C9JFZ1,C9J1Z6;UNIPARC=UPI000198C848;SIFT=tolerated(0.58);PolyPhen=benign(0.004);EXON=9/33;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000382499.4:c.1147G>A;HGVSp=ENSP00000371939.2:p.Ala383Thr;GMAF=T:0.0023;AFR_MAF=T:0.01;EUR_MAF=T:0.0013;AA_MAF=T:0.006131;EA_MAF=T:0
rs114942253	21:32685836	T	ENSG00000159082	ENST00000429236	Transcript	missense_variant	1155	1030	344	A/T	Gca/Aca	rs114942253	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000413649;TREMBL=C9JW66,C9J1Z6;UNIPARC=UPI000066D9B1;SIFT=tolerated(0.65);PolyPhen=benign(0.001);EXON=9/16;DOMAINS=PROSITE_profiles:PS50275,Pfam_domain:PF02383;HGVSc=ENST00000429236.3:c.1030G>A;HGVSp=ENSP00000413649.1:p.Ala344Thr;GMAF=T:0.0023;AFR_MAF=T:0.01;EUR_MAF=T:0.0013;AA_MAF=T:0.006131;EA_MAF=T:0
rs114942253	21:32685836	T	ENSG00000159082	ENST00000382491	Transcript	missense_variant	1147	1030	344	A/T	Gca/Aca	rs114942253	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371931;TREMBL=C9JW66,C9J1Z6;UNIPARC=UPI000387AF41;SIFT=tolerated(0.46);PolyPhen=unknown(0);EXON=9/29;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000382491.5:c.1030G>A;HGVSp=ENSP00000371931.4:p.Ala344Thr;GMAF=T:0.0023;AFR_MAF=T:0.01;EUR_MAF=T:0.0013;AA_MAF=T:0.006131;EA_MAF=T:0
rs114942253	21:32685836	T	ENSG00000159082	ENST00000433931	Transcript	missense_variant	1155	1147	383	A/T	Gca/Aca	rs114942253	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33539.2;ENSP=ENSP00000409667;TREMBL=J3KQV8,C9J1Z6;UNIPARC=UPI0001A47572;SIFT=tolerated(0.57);PolyPhen=benign(0.007);EXON=9/32;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000433931.4:c.1147G>A;HGVSp=ENSP00000409667.2:p.Ala383Thr;GMAF=T:0.0023;AFR_MAF=T:0.01;EUR_MAF=T:0.0013;AA_MAF=T:0.006131;EA_MAF=T:0
rs114942253	21:32685836	T	ENSG00000159082	ENST00000357345	Transcript	missense_variant	1155	1030	344	A/T	Gca/Aca	rs114942253	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS54483.1;ENSP=ENSP00000349903;SWISSPROT=O43426;TREMBL=B4DIP0,C9J1Z6;UNIPARC=UPI000034ECCC;SIFT=tolerated(0.47);PolyPhen=benign(0.002);EXON=9/32;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000357345.5:c.1030G>A;HGVSp=ENSP00000349903.3:p.Ala344Thr;GMAF=T:0.0023;AFR_MAF=T:0.01;EUR_MAF=T:0.0013;AA_MAF=T:0.006131;EA_MAF=T:0
rs2254562	21:32687042	C	ENSG00000159082	ENST00000382499	Transcript	missense_variant	1001	1001	334	K/R	aAa/aGa	rs2254562,COSM3758851,COSM3758850	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33540.2;ENSP=ENSP00000371939;TREMBL=C9JFZ1,C9J1Z6;UNIPARC=UPI000198C848;SIFT=tolerated(0.05);PolyPhen=benign(0.105);EXON=8/33;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000382499.4:c.1001A>G;HGVSp=ENSP00000371939.2:p.Lys334Arg;GMAF=C:0.2925;AFR_MAF=C:0.25;AMR_MAF=C:0.28;ASN_MAF=C:0.34;EUR_MAF=C:0.29;AA_MAF=C:0.297045;EA_MAF=C:0.297905;SOMATIC=0,1,1;PUBMED=22213687,22045296
rs2254562	21:32687042	C	ENSG00000159082	ENST00000429236	Transcript	missense_variant	1009	884	295	K/R	aAa/aGa	rs2254562,COSM3758851,COSM3758850	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000413649;TREMBL=C9JW66,C9J1Z6;UNIPARC=UPI000066D9B1;SIFT=tolerated(0.08);PolyPhen=benign(0.056);EXON=8/16;DOMAINS=PROSITE_profiles:PS50275,Pfam_domain:PF02383;HGVSc=ENST00000429236.3:c.884A>G;HGVSp=ENSP00000413649.1:p.Lys295Arg;GMAF=C:0.2925;AFR_MAF=C:0.25;AMR_MAF=C:0.28;ASN_MAF=C:0.34;EUR_MAF=C:0.29;AA_MAF=C:0.297045;EA_MAF=C:0.297905;SOMATIC=0,1,1;PUBMED=22213687,22045296
rs2254562	21:32687042	C	ENSG00000159082	ENST00000382491	Transcript	missense_variant	1001	884	295	K/R	aAa/aGa	rs2254562,COSM3758851,COSM3758850	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371931;TREMBL=C9JW66,C9J1Z6;UNIPARC=UPI000387AF41;SIFT=tolerated(0.06);PolyPhen=unknown(0);EXON=8/29;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000382491.5:c.884A>G;HGVSp=ENSP00000371931.4:p.Lys295Arg;GMAF=C:0.2925;AFR_MAF=C:0.25;AMR_MAF=C:0.28;ASN_MAF=C:0.34;EUR_MAF=C:0.29;AA_MAF=C:0.297045;EA_MAF=C:0.297905;SOMATIC=0,1,1;PUBMED=22213687,22045296
rs2254562	21:32687042	C	ENSG00000159082	ENST00000433931	Transcript	missense_variant	1009	1001	334	K/R	aAa/aGa	rs2254562,COSM3758851,COSM3758850	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33539.2;ENSP=ENSP00000409667;TREMBL=J3KQV8,C9J1Z6;UNIPARC=UPI0001A47572;SIFT=deleterious(0.03);PolyPhen=probably_damaging(0.938);EXON=8/32;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000433931.4:c.1001A>G;HGVSp=ENSP00000409667.2:p.Lys334Arg;GMAF=C:0.2925;AFR_MAF=C:0.25;AMR_MAF=C:0.28;ASN_MAF=C:0.34;EUR_MAF=C:0.29;AA_MAF=C:0.297045;EA_MAF=C:0.297905;SOMATIC=0,1,1;PUBMED=22213687,22045296
rs2254562	21:32687042	C	ENSG00000159082	ENST00000357345	Transcript	missense_variant	1009	884	295	K/R	aAa/aGa	rs2254562,COSM3758851,COSM3758850	STRAND=-1;SYMBOL=SYNJ1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11503;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS54483.1;ENSP=ENSP00000349903;SWISSPROT=O43426;TREMBL=B4DIP0,C9J1Z6;UNIPARC=UPI000034ECCC;SIFT=tolerated(0.06);PolyPhen=benign(0.039);EXON=8/32;DOMAINS=Pfam_domain:PF02383,PROSITE_profiles:PS50275;HGVSc=ENST00000357345.5:c.884A>G;HGVSp=ENSP00000349903.3:p.Lys295Arg;GMAF=C:0.2925;AFR_MAF=C:0.25;AMR_MAF=C:0.28;ASN_MAF=C:0.34;EUR_MAF=C:0.29;AA_MAF=C:0.297045;EA_MAF=C:0.297905;SOMATIC=0,1,1;PUBMED=22213687,22045296
rs4986958	21:33414987	G	ENSG00000159128	ENST00000381995	Transcript	missense_variant	342	230	77	T/R	aCg/aGg	rs4986958,COSM3693766	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371425;TREMBL=A1Z2N6,E7EUY1,B5MCZ0;UNIPARC=UPI000066D9B7;SIFT=tolerated(0.09);PolyPhen=possibly_damaging(0.854);EXON=3/8;DOMAINS=Pfam_domain:PF01108,Superfamily_domains:SSF49265;HGVSc=ENST00000381995.3:c.230C>G;HGVSp=ENSP00000371425.1:p.Thr77Arg;GMAF=G:0.0326;AFR_MAF=G:0.13;AMR_MAF=G:0.01;EUR_MAF=G:0.01;AA_MAF=G:0.144576;EA_MAF=G:0.005930;CLIN_SIG=benign;SOMATIC=0,1;PUBMED=16690980,16885196
rs4986958	21:33414987	G	ENSG00000159128	ENST00000290219	Transcript	missense_variant	821	173	58	T/R	aCg/aGg	rs4986958,COSM3693766	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33544.1;ENSP=ENSP00000290219;SWISSPROT=P38484;TREMBL=A1Z2N6,A8K881,B5MCZ0;UNIPARC=UPI00001514B0;SIFT=tolerated(0.06);PolyPhen=possibly_damaging(0.899);EXON=2/7;DOMAINS=Pfam_domain:PF01108,Superfamily_domains:SSF49265;HGVSc=ENST00000290219.8:c.173C>G;HGVSp=ENSP00000290219.5:p.Thr58Arg;GMAF=G:0.0326;AFR_MAF=G:0.13;AMR_MAF=G:0.01;EUR_MAF=G:0.01;AA_MAF=G:0.144576;EA_MAF=G:0.005930;CLIN_SIG=benign;SOMATIC=0,1;PUBMED=16690980,16885196
rs4986958	21:33414987	G	ENSG00000159128	ENST00000439213	Transcript	3_prime_UTR_variant,NMD_transcript_variant	478	-	-	-	-	rs4986958,COSM3693766	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000407541;TREMBL=F8WF11;UNIPARC=UPI000173A35E;EXON=4/7;HGVSc=ENST00000439213.3:c.*148C>G;GMAF=G:0.0326;AFR_MAF=G:0.13;AMR_MAF=G:0.01;EUR_MAF=G:0.01;AA_MAF=G:0.144576;EA_MAF=G:0.005930;CLIN_SIG=benign;SOMATIC=0,1;PUBMED=16690980,16885196
rs4986958	21:33414987	G	ENSG00000159128	ENST00000405436	Transcript	5_prime_UTR_variant	303	-	-	-	-	rs4986958,COSM3693766	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385044;TREMBL=B5MCZ0;UNIPARC=UPI0000EE4BD9;EXON=3/8;HGVSc=ENST00000405436.3:c.-65C>G;GMAF=G:0.0326;AFR_MAF=G:0.13;AMR_MAF=G:0.01;EUR_MAF=G:0.01;AA_MAF=G:0.144576;EA_MAF=G:0.005930;CLIN_SIG=benign;SOMATIC=0,1;PUBMED=16690980,16885196
rs4986958	21:33414987	G	ENSG00000159128	ENST00000545369	Transcript	intron_variant,NMD_transcript_variant	-	-	-	-	-	rs4986958,COSM3693766	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000442735;TREMBL=F8WE34;UNIPARC=UPI000173A35F;INTRON=1/5;HGVSc=ENST00000545369.2:c.74-6493C>G;GMAF=G:0.0326;AFR_MAF=G:0.13;AMR_MAF=G:0.01;EUR_MAF=G:0.01;AA_MAF=G:0.144576;EA_MAF=G:0.005930;CLIN_SIG=benign;SOMATIC=0,1;PUBMED=16690980,16885196
rs9808753	21:33415005	G	ENSG00000159128	ENST00000381995	Transcript	missense_variant	360	248	83	Q/R	cAa/cGa	rs9808753,COSM3758854	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371425;TREMBL=A1Z2N6,E7EUY1,B5MCZ0;UNIPARC=UPI000066D9B7;SIFT=tolerated(1);PolyPhen=benign(0.005);EXON=3/8;DOMAINS=Pfam_domain:PF01108,Superfamily_domains:SSF49265;HGVSc=ENST00000381995.3:c.248A>G;HGVSp=ENSP00000371425.1:p.Gln83Arg;GMAF=G:0.2576;AFR_MAF=G:0.22;AMR_MAF=G:0.22;ASN_MAF=G:0.45;EUR_MAF=G:0.16;AA_MAF=G:0.224921;EA_MAF=G:0.137558;SOMATIC=0,1;PUBMED=17327408,18633131,19066394,17705862,17727713,16449530,22649007,20952689,20959405,22609637,20980339,16412785,22057826,22180854
rs9808753	21:33415005	G	ENSG00000159128	ENST00000290219	Transcript	missense_variant	839	191	64	Q/R	cAa/cGa	rs9808753,COSM3758854	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33544.1;ENSP=ENSP00000290219;SWISSPROT=P38484;TREMBL=A1Z2N6,A8K881,B5MCZ0;UNIPARC=UPI00001514B0;SIFT=tolerated(0.94);PolyPhen=benign(0.007);EXON=2/7;DOMAINS=Pfam_domain:PF01108,Superfamily_domains:SSF49265;HGVSc=ENST00000290219.8:c.191A>G;HGVSp=ENSP00000290219.5:p.Gln64Arg;GMAF=G:0.2576;AFR_MAF=G:0.22;AMR_MAF=G:0.22;ASN_MAF=G:0.45;EUR_MAF=G:0.16;AA_MAF=G:0.224921;EA_MAF=G:0.137558;SOMATIC=0,1;PUBMED=17327408,18633131,19066394,17705862,17727713,16449530,22649007,20952689,20959405,22609637,20980339,16412785,22057826,22180854
rs9808753	21:33415005	G	ENSG00000159128	ENST00000439213	Transcript	3_prime_UTR_variant,NMD_transcript_variant	496	-	-	-	-	rs9808753,COSM3758854	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000407541;TREMBL=F8WF11;UNIPARC=UPI000173A35E;EXON=4/7;HGVSc=ENST00000439213.3:c.*166A>G;GMAF=G:0.2576;AFR_MAF=G:0.22;AMR_MAF=G:0.22;ASN_MAF=G:0.45;EUR_MAF=G:0.16;AA_MAF=G:0.224921;EA_MAF=G:0.137558;SOMATIC=0,1;PUBMED=17327408,18633131,19066394,17705862,17727713,16449530,22649007,20952689,20959405,22609637,20980339,16412785,22057826,22180854
rs9808753	21:33415005	G	ENSG00000159128	ENST00000405436	Transcript	5_prime_UTR_variant	321	-	-	-	-	rs9808753,COSM3758854	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385044;TREMBL=B5MCZ0;UNIPARC=UPI0000EE4BD9;EXON=3/8;HGVSc=ENST00000405436.3:c.-47A>G;GMAF=G:0.2576;AFR_MAF=G:0.22;AMR_MAF=G:0.22;ASN_MAF=G:0.45;EUR_MAF=G:0.16;AA_MAF=G:0.224921;EA_MAF=G:0.137558;SOMATIC=0,1;PUBMED=17327408,18633131,19066394,17705862,17727713,16449530,22649007,20952689,20959405,22609637,20980339,16412785,22057826,22180854
rs9808753	21:33415005	G	ENSG00000159128	ENST00000545369	Transcript	intron_variant,NMD_transcript_variant	-	-	-	-	-	rs9808753,COSM3758854	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000442735;TREMBL=F8WE34;UNIPARC=UPI000173A35F;INTRON=1/5;HGVSc=ENST00000545369.2:c.74-6475A>G;GMAF=G:0.2576;AFR_MAF=G:0.22;AMR_MAF=G:0.22;ASN_MAF=G:0.45;EUR_MAF=G:0.16;AA_MAF=G:0.224921;EA_MAF=G:0.137558;SOMATIC=0,1;PUBMED=17327408,18633131,19066394,17705862,17727713,16449530,22649007,20952689,20959405,22609637,20980339,16412785,22057826,22180854
rs17878711	21:33427015	G	ENSG00000159128	ENST00000381995	Transcript	missense_variant	713	601	201	K/E	Aaa/Gaa	rs17878711	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371425;TREMBL=A1Z2N6,E7EUY1,B5MCZ0;UNIPARC=UPI000066D9B7;SIFT=tolerated(0.17);PolyPhen=benign(0.119);EXON=5/8;DOMAINS=Pfam_domain:PF09294,Pfam_domain:PF00041,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265;HGVSc=ENST00000381995.3:c.601A>G;HGVSp=ENSP00000371425.1:p.Lys201Glu;GMAF=G:0.0124;AFR_MAF=G:0.05;AA_MAF=G:0.033137;EA_MAF=G:0.000116
rs17878711	21:33427015	G	ENSG00000159128	ENST00000290219	Transcript	missense_variant	1192	544	182	K/E	Aaa/Gaa	rs17878711	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33544.1;ENSP=ENSP00000290219;SWISSPROT=P38484;TREMBL=A1Z2N6,A8K881,B5MCZ0;UNIPARC=UPI00001514B0;SIFT=tolerated(0.18);PolyPhen=benign(0.133);EXON=4/7;DOMAINS=Pfam_domain:PF09294,Pfam_domain:PF00041,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265;HGVSc=ENST00000290219.8:c.544A>G;HGVSp=ENSP00000290219.5:p.Lys182Glu;GMAF=G:0.0124;AFR_MAF=G:0.05;AA_MAF=G:0.033137;EA_MAF=G:0.000116
rs17878711	21:33427015	G	ENSG00000159128	ENST00000439213	Transcript	3_prime_UTR_variant,NMD_transcript_variant	849	-	-	-	-	rs17878711	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000407541;TREMBL=F8WF11;UNIPARC=UPI000173A35E;EXON=6/7;HGVSc=ENST00000439213.3:c.*519A>G;GMAF=G:0.0124;AFR_MAF=G:0.05;AA_MAF=G:0.033137;EA_MAF=G:0.000116
rs17878711	21:33427015	G	ENSG00000159128	ENST00000405436	Transcript	missense_variant	674	307	103	K/E	Aaa/Gaa	rs17878711	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385044;TREMBL=B5MCZ0;UNIPARC=UPI0000EE4BD9;SIFT=tolerated(0.16);PolyPhen=benign(0.133);EXON=5/8;DOMAINS=Pfam_domain:PF09294,Pfam_domain:PF00041,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265;HGVSc=ENST00000405436.3:c.307A>G;HGVSp=ENSP00000385044.1:p.Lys103Glu;GMAF=G:0.0124;AFR_MAF=G:0.05;AA_MAF=G:0.033137;EA_MAF=G:0.000116
rs17878711	21:33427015	G	ENSG00000159128	ENST00000545369	Transcript	3_prime_UTR_variant,NMD_transcript_variant	514	-	-	-	-	rs17878711	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000442735;TREMBL=F8WE34;UNIPARC=UPI000173A35F;EXON=3/6;HGVSc=ENST00000545369.2:c.*297A>G;GMAF=G:0.0124;AFR_MAF=G:0.05;AA_MAF=G:0.033137;EA_MAF=G:0.000116
rs115458101	21:33432763	A	ENSG00000142188	ENST00000484377	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	417	-	-	-	-	rs115458101	STRAND=-1;SYMBOL=TMEM50B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1280;BIOTYPE=processed_transcript;TSL=2;EXON=4/4;HGVSc=ENST00000484377.3:n.417C>T;GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000159128	ENST00000439213	Transcript	downstream_gene_variant	-	-	-	-	-	rs115458101	DISTANCE=547;STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000407541;TREMBL=F8WF11;UNIPARC=UPI000173A35E;GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000142188	ENST00000420455	Transcript	3_prime_UTR_variant,NMD_transcript_variant	2784	-	-	-	-	rs115458101	STRAND=-1;SYMBOL=TMEM50B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1280;BIOTYPE=nonsense_mediated_decay;TSL=1;CCDS=CCDS13625.1;ENSP=ENSP00000397773;SWISSPROT=P56557;TREMBL=C9K0I4;UNIPARC=UPI0000048EAC;EXON=9/9;HGVSc=ENST00000420455.3:c.*2160C>T;GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000159128	ENST00000405436	Transcript	synonymous_variant	901	534	178	S	tcG/tcA	rs115458101	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385044;TREMBL=B5MCZ0;UNIPARC=UPI0000EE4BD9;EXON=7/8;DOMAINS=Transmembrane_helices:Tmhmm;HGVSc=ENST00000405436.3:c.534G>A;HGVSp=ENST00000405436.3:c.534G>A(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000159128	ENST00000381995	Transcript	synonymous_variant	940	828	276	S	tcG/tcA	rs115458101	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000371425;TREMBL=A1Z2N6,E7EUY1,B5MCZ0;UNIPARC=UPI000066D9B7;EXON=7/8;DOMAINS=Transmembrane_helices:Tmhmm;HGVSc=ENST00000381995.3:c.828G>A;HGVSp=ENST00000381995.3:c.828G>A(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000159128	ENST00000421802	Transcript	synonymous_variant	68	69	23	S	tcG/tcA	rs115458101	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000402629;UNIPARC=UPI000173A360;EXON=2/3;DOMAINS=Transmembrane_helices:Tmhmm;HGVSc=ENST00000421802.1:c.68G>A;HGVSp=ENST00000421802.1:c.68G>A(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000142188	ENST00000470682	Transcript	downstream_gene_variant	-	-	-	-	-	rs115458101	DISTANCE=35;STRAND=-1;SYMBOL=TMEM50B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1280;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000142188	ENST00000468874	Transcript	downstream_gene_variant	-	-	-	-	-	rs115458101	DISTANCE=4121;STRAND=-1;SYMBOL=TMEM50B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1280;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000159128	ENST00000290219	Transcript	synonymous_variant	1419	771	257	S	tcG/tcA	rs115458101	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33544.1;ENSP=ENSP00000290219;SWISSPROT=P38484;TREMBL=A1Z2N6,A8K881,B5MCZ0;UNIPARC=UPI00001514B0;EXON=6/7;DOMAINS=Transmembrane_helices:Tmhmm;HGVSc=ENST00000290219.8:c.771G>A;HGVSp=ENST00000290219.8:c.771G>A(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.01
rs115458101	21:33432763	A	ENSG00000159128	ENST00000545369	Transcript	3_prime_UTR_variant,NMD_transcript_variant	741	-	-	-	-	rs115458101	STRAND=1;SYMBOL=IFNGR2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5440;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000442735;TREMBL=F8WE34;UNIPARC=UPI000173A35F;EXON=5/6;HGVSc=ENST00000545369.2:c.*524G>A;GMAF=A:0.0014;AFR_MAF=A:0.01
rs73901831	21:37065660	G	ENSG00000185808	ENST00000479152	Transcript	downstream_gene_variant	-	-	-	-	-	rs73901831	DISTANCE=3607;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=retained_intron;TSL=3;GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000399102	Transcript	synonymous_variant	402	327	109	P	ccA/ccC	rs73901831	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382053;SWISSPROT=P57054;UNIPARC=UPI000000086B;EXON=5/5;DOMAINS=Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000399102.3:c.327A>C;HGVSp=ENST00000399102.3:c.327A>C(p.%3D);GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000399098	Transcript	synonymous_variant	686	249	83	P	ccA/ccC	rs73901831	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000382049;SWISSPROT=P57054;TREMBL=C9JKT1;UNIPARC=UPI000002A84E;EXON=6/6;DOMAINS=Pfam_domain:PF08510;HGVSc=ENST00000399098.3:c.249A>C;HGVSp=ENST00000399098.3:c.249A>C(p.%3D);GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000430792	Transcript	downstream_gene_variant	-	-	-	-	-	rs73901831	DISTANCE=3892;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000388372;TREMBL=C9JKT1;UNIPARC=UPI0000E5A3BD;GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000329667	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	276	-	-	-	-	rs73901831	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000329667.5:n.276A>C;GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000399103	Transcript	synonymous_variant	370	327	109	P	ccA/ccC	rs73901831	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382054;SWISSPROT=P57054;UNIPARC=UPI000000086B;EXON=5/5;DOMAINS=Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000399103.3:c.327A>C;HGVSp=ENST00000399103.3:c.327A>C(p.%3D);GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000464265	Transcript	synonymous_variant	623	399	133	P	ccA/ccC	rs73901831	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13649.1;ENSP=ENSP00000420037;SWISSPROT=P57054;UNIPARC=UPI00000731A7;EXON=4/4;DOMAINS=Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000464265.3:c.399A>C;HGVSp=ENST00000464265.3:c.399A>C(p.%3D);GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs73901831	21:37065660	G	ENSG00000185808	ENST00000360525	Transcript	synonymous_variant	508	327	109	P	ccA/ccC	rs73901831	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000353719;SWISSPROT=P57054;UNIPARC=UPI000000086B;EXON=5/5;DOMAINS=Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000360525.6:c.327A>C;HGVSp=ENST00000360525.6:c.327A>C(p.%3D);GMAF=G:0.0092;AFR_MAF=G:0.03;AMR_MAF=G:0.01;AA_MAF=G:0.024069;EA_MAF=G:0
rs16994704	21:37065706	C	ENSG00000185808	ENST00000479152	Transcript	downstream_gene_variant	-	-	-	-	-	rs16994704	DISTANCE=3561;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=retained_intron;TSL=3;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000399102	Transcript	missense_variant	356	281	94	Y/C	tAt/tGt	rs16994704	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382053;SWISSPROT=P57054;UNIPARC=UPI000000086B;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);EXON=5/5;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000399102.3:c.281A>G;HGVSp=ENSP00000382053.1:p.Tyr94Cys;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000399098	Transcript	missense_variant	640	203	68	Y/C	tAt/tGt	rs16994704	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000382049;SWISSPROT=P57054;TREMBL=C9JKT1;UNIPARC=UPI000002A84E;SIFT=deleterious(0);PolyPhen=probably_damaging(0.983);EXON=6/6;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF08510;HGVSc=ENST00000399098.3:c.203A>G;HGVSp=ENSP00000382049.1:p.Tyr68Cys;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000430792	Transcript	downstream_gene_variant	-	-	-	-	-	rs16994704	DISTANCE=3846;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000388372;TREMBL=C9JKT1;UNIPARC=UPI0000E5A3BD;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000329667	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	230	-	-	-	-	rs16994704	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000329667.5:n.230A>G;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000399103	Transcript	missense_variant	324	281	94	Y/C	tAt/tGt	rs16994704	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382054;SWISSPROT=P57054;UNIPARC=UPI000000086B;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);EXON=5/5;DOMAINS=Pfam_domain:PF08510,Low_complexity_(Seg):Seg,PIRSF_domain:PIRSF008765;HGVSc=ENST00000399103.3:c.281A>G;HGVSp=ENSP00000382054.1:p.Tyr94Cys;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000464265	Transcript	missense_variant	577	353	118	Y/C	tAt/tGt	rs16994704	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13649.1;ENSP=ENSP00000420037;SWISSPROT=P57054;UNIPARC=UPI00000731A7;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);EXON=4/4;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000464265.3:c.353A>G;HGVSp=ENSP00000420037.1:p.Tyr118Cys;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs16994704	21:37065706	C	ENSG00000185808	ENST00000360525	Transcript	missense_variant	462	281	94	Y/C	tAt/tGt	rs16994704	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000353719;SWISSPROT=P57054;UNIPARC=UPI000000086B;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);EXON=5/5;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000360525.6:c.281A>G;HGVSp=ENSP00000353719.3:p.Tyr94Cys;GMAF=C:0.0133;AFR_MAF=C:0.05;AMR_MAF=C:0.01;AA_MAF=C:0.042688;EA_MAF=C:0.001279
rs73901833	21:37067340	C	ENSG00000185808	ENST00000479152	Transcript	downstream_gene_variant	-	-	-	-	-	rs73901833	DISTANCE=1927;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=retained_intron;TSL=3;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000399102	Transcript	missense_variant	271	196	66	I/V	Ata/Gta	rs73901833	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382053;SWISSPROT=P57054;UNIPARC=UPI000000086B;SIFT=tolerated(0.7);PolyPhen=benign(0.006);EXON=4/5;DOMAINS=Pfam_domain:PF08510,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF008765;HGVSc=ENST00000399102.3:c.196A>G;HGVSp=ENSP00000382053.1:p.Ile66Val;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000399098	Transcript	missense_variant	555	118	40	I/V	Ata/Gta	rs73901833	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000382049;SWISSPROT=P57054;TREMBL=C9JKT1;UNIPARC=UPI000002A84E;SIFT=tolerated(0.64);PolyPhen=benign(0.002);EXON=5/6;DOMAINS=Pfam_domain:PF08510,Transmembrane_helices:Tmhmm;HGVSc=ENST00000399098.3:c.118A>G;HGVSp=ENSP00000382049.1:p.Ile40Val;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000430792	Transcript	downstream_gene_variant	-	-	-	-	-	rs73901833	DISTANCE=2212;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000388372;TREMBL=C9JKT1;UNIPARC=UPI0000E5A3BD;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000329667	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	145	-	-	-	-	rs73901833	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=processed_transcript;TSL=2;EXON=2/3;HGVSc=ENST00000329667.5:n.145A>G;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000399103	Transcript	missense_variant	239	196	66	I/V	Ata/Gta	rs73901833	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382054;SWISSPROT=P57054;UNIPARC=UPI000000086B;SIFT=tolerated(0.7);PolyPhen=benign(0.006);EXON=4/5;DOMAINS=Transmembrane_helices:Tmhmm,Pfam_domain:PF08510,PIRSF_domain:PIRSF008765;HGVSc=ENST00000399103.3:c.196A>G;HGVSp=ENSP00000382054.1:p.Ile66Val;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000464265	Transcript	missense_variant	492	268	90	I/V	Ata/Gta	rs73901833	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13649.1;ENSP=ENSP00000420037;SWISSPROT=P57054;UNIPARC=UPI00000731A7;SIFT=tolerated(0.66);PolyPhen=benign(0.006);EXON=3/4;DOMAINS=Pfam_domain:PF08510,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF008765;HGVSc=ENST00000464265.3:c.268A>G;HGVSp=ENSP00000420037.1:p.Ile90Val;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs73901833	21:37067340	C	ENSG00000185808	ENST00000360525	Transcript	missense_variant	377	196	66	I/V	Ata/Gta	rs73901833	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000353719;SWISSPROT=P57054;UNIPARC=UPI000000086B;SIFT=tolerated(0.7);PolyPhen=benign(0.006);EXON=4/5;DOMAINS=Pfam_domain:PF08510,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF008765;HGVSc=ENST00000360525.6:c.196A>G;HGVSp=ENSP00000353719.3:p.Ile66Val;GMAF=C:0.0092;AFR_MAF=C:0.03;AMR_MAF=C:0.01;AA_MAF=C:0.024058;EA_MAF=C:0
rs2507733	21:37072563	T	ENSG00000182670	ENST00000438055	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=704;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000391891;TREMBL=E9PCE7;UNIPARC=UPI0000E5A3C2;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000479152	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	161	-	-	-	-	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=retained_intron;TSL=3;EXON=1/2;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000492275	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=663;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=3;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000399102	Transcript	intron_variant	-	-	-	-	-	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382053;SWISSPROT=P57054;UNIPARC=UPI000000086B;INTRON=1/4;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000399098	Transcript	intron_variant	-	-	-	-	-	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000382049;SWISSPROT=P57054;TREMBL=C9JKT1;UNIPARC=UPI000002A84E;INTRON=1/5;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000540756	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=718;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000442875;TREMBL=B4DSZ9;UNIPARC=UPI00017A7A76;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000329667	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=26;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=processed_transcript;TSL=2;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000464265	Transcript	missense_variant	249	25	9	A/T	Gcg/Acg	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13649.1;ENSP=ENSP00000420037;SWISSPROT=P57054;UNIPARC=UPI00000731A7;EXON=1/4;DOMAINS=PIRSF_domain:PIRSF008765;HGVSp=ENSP00000420037.1:p.Ala9Thr;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000355666	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=708;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13651.1;ENSP=ENSP00000347889;SWISSPROT=P53804;TREMBL=E9PMS7,E9PMP8;UNIPARC=UPI00001B043E;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000485402	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=695;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000360525	Transcript	intron_variant	-	-	-	-	-	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000353719;SWISSPROT=P57054;UNIPARC=UPI000000086B;INTRON=1/4;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000418766	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=688;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000403943;TREMBL=E9PMS7,E9PMP8;UNIPARC=UPI0000E5A3C0;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000481605	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=714;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000399103	Transcript	intron_variant	-	-	-	-	-	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382054;SWISSPROT=P57054;UNIPARC=UPI000000086B;INTRON=1/4;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000494243	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=718;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000399010	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=727;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000381974;TREMBL=A8MT23;UNIPARC=UPI0000206E73;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000185808	ENST00000430792	Transcript	5_prime_UTR_variant	435	-	-	-	-	rs2507733	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000388372;TREMBL=C9JKT1;UNIPARC=UPI0000E5A3BD;EXON=1/3;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000450533	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=704;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000408456;TREMBL=E9PMS7;UNIPARC=UPI0000E5A3C1;GMAF=C:0.0000
rs2507733	21:37072563	T	ENSG00000182670	ENST00000463216	Transcript	upstream_gene_variant	-	-	-	-	-	rs2507733	DISTANCE=714;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=C:0.0000
rs2507733	21:37072563	T	-	ENSR00000106776	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2507733	BIOTYPE=promoter;GMAF=C:0.0000
rs73200245	21:37072581	A	ENSG00000182670	ENST00000438055	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=686;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000391891;TREMBL=E9PCE7;UNIPARC=UPI0000E5A3C2;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000479152	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	143	-	-	-	-	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=retained_intron;TSL=3;EXON=1/2;HGVSc=ENST00000479152.1:n.143C>T;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000492275	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=645;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000399102	Transcript	intron_variant	-	-	-	-	-	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382053;SWISSPROT=P57054;UNIPARC=UPI000000086B;INTRON=1/4;HGVSc=ENST00000399102.3:c.-22-44C>T;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000399098	Transcript	intron_variant	-	-	-	-	-	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000382049;SWISSPROT=P57054;TREMBL=C9JKT1;UNIPARC=UPI000002A84E;INTRON=1/5;HGVSc=ENST00000399098.3:c.-266-44C>T;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000540756	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=700;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000442875;TREMBL=B4DSZ9;UNIPARC=UPI00017A7A76;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000329667	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=44;STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=processed_transcript;TSL=2;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000464265	Transcript	missense_variant	231	7	3	P/S	Cca/Tca	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13649.1;ENSP=ENSP00000420037;SWISSPROT=P57054;UNIPARC=UPI00000731A7;SIFT=deleterious(0);PolyPhen=unknown(0);EXON=1/4;HGVSc=ENST00000464265.3:c.7C>T;HGVSp=ENSP00000420037.1:p.Pro3Ser;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000355666	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=690;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13651.1;ENSP=ENSP00000347889;SWISSPROT=P53804;TREMBL=E9PMS7,E9PMP8;UNIPARC=UPI00001B043E;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000485402	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=677;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000360525	Transcript	intron_variant	-	-	-	-	-	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000353719;SWISSPROT=P57054;UNIPARC=UPI000000086B;INTRON=1/4;HGVSc=ENST00000360525.6:c.-22-44C>T;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000418766	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=670;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000403943;TREMBL=E9PMS7,E9PMP8;UNIPARC=UPI0000E5A3C0;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000481605	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=696;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000399103	Transcript	intron_variant	-	-	-	-	-	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13650.1;ENSP=ENSP00000382054;SWISSPROT=P57054;UNIPARC=UPI000000086B;INTRON=1/4;HGVSc=ENST00000399103.3:c.-22-44C>T;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000494243	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=700;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000399010	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=709;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000381974;TREMBL=A8MT23;UNIPARC=UPI0000206E73;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000185808	ENST00000430792	Transcript	5_prime_UTR_variant	417	-	-	-	-	rs73200245	STRAND=-1;SYMBOL=PIGP;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3046;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000388372;TREMBL=C9JKT1;UNIPARC=UPI0000E5A3BD;EXON=1/3;HGVSc=ENST00000430792.1:c.-310C>T;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000450533	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=686;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000408456;TREMBL=E9PMS7;UNIPARC=UPI0000E5A3C1;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	ENSG00000182670	ENST00000463216	Transcript	upstream_gene_variant	-	-	-	-	-	rs73200245	DISTANCE=696;STRAND=1;SYMBOL=TTC3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12393;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs73200245	21:37072581	A	-	ENSR00000106776	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs73200245	BIOTYPE=promoter;GMAF=A:0.2213;AFR_MAF=A:0.37;AMR_MAF=A:0.34;ASN_MAF=A:0.10;EUR_MAF=A:0.16;AA_MAF=A:0.337948;EA_MAF=A:0.160465
rs34373350	21:38814278	A	ENSG00000157557	ENST00000456966	Transcript	missense_variant	351	190	64	A/T	Gcc/Acc	rs34373350	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;SIFT=tolerated(0.54);PolyPhen=benign(0.002);EXON=4/7;DOMAINS=Superfamily_domains:SSF47769;HGVSc=ENST00000456966.1:c.190G>A;HGVSp=ENSP00000411086.1:p.Ala64Thr;GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;EUR_MAF=A:0.0013;AA_MAF=A:0.024285;EA_MAF=A:0.002326
rs34373350	21:38814278	A	ENSG00000157557	ENST00000360214	Transcript	missense_variant	650	190	64	A/T	Gcc/Acc	rs34373350	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;SIFT=tolerated(0.57);PolyPhen=benign(0.002);EXON=5/11;DOMAINS=Superfamily_domains:SSF47769,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.190G>A;HGVSp=ENSP00000353344.3:p.Ala64Thr;GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;EUR_MAF=A:0.0013;AA_MAF=A:0.024285;EA_MAF=A:0.002326
rs34373350	21:38814278	A	ENSG00000157557	ENST00000432278	Transcript	missense_variant	718	190	64	A/T	Gcc/Acc	rs34373350	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401273;SWISSPROT=P15036;UNIPARC=UPI0000169D59;SIFT=tolerated(0.55);PolyPhen=benign(0.002);EXON=5/6;DOMAINS=Superfamily_domains:SSF47769;HGVSc=ENST00000432278.3:c.190G>A;HGVSp=ENSP00000401273.1:p.Ala64Thr;GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;EUR_MAF=A:0.0013;AA_MAF=A:0.024285;EA_MAF=A:0.002326
rs34373350	21:38814278	A	ENSG00000157557	ENST00000360938	Transcript	missense_variant	480	190	64	A/T	Gcc/Acc	rs34373350	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;SIFT=tolerated(0.57);PolyPhen=benign(0.002);EXON=4/10;DOMAINS=Superfamily_domains:SSF47769,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.190G>A;HGVSp=ENSP00000354194.3:p.Ala64Thr;GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;EUR_MAF=A:0.0013;AA_MAF=A:0.024285;EA_MAF=A:0.002326
rs115908228	21:38818481	A	ENSG00000157557	ENST00000456966	Transcript	missense_variant	807	646	216	G/S	Ggc/Agc	rs115908228,COSM94254	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;SIFT=tolerated(1);PolyPhen=benign(0.002);EXON=7/7;HGVSc=ENST00000456966.1:c.646G>A;HGVSp=ENSP00000411086.1:p.Gly216Ser;GMAF=A:0.0023;AFR_MAF=A:0.01;SOMATIC=0,1
rs115908228	21:38818481	A	ENSG00000157557	ENST00000360214	Transcript	missense_variant	1106	646	216	G/S	Ggc/Agc	rs115908228,COSM94254	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;SIFT=tolerated(0.6);PolyPhen=benign(0.002);EXON=8/11;DOMAINS=PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.646G>A;HGVSp=ENSP00000353344.3:p.Gly216Ser;GMAF=A:0.0023;AFR_MAF=A:0.01;SOMATIC=0,1
rs115908228	21:38818481	A	ENSG00000157557	ENST00000432278	Transcript	downstream_gene_variant	-	-	-	-	-	rs115908228,COSM94254	DISTANCE=3500;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401273;SWISSPROT=P15036;UNIPARC=UPI0000169D59;GMAF=A:0.0023;AFR_MAF=A:0.01;SOMATIC=0,1
rs115908228	21:38818481	A	ENSG00000157557	ENST00000360938	Transcript	missense_variant	936	646	216	G/S	Ggc/Agc	rs115908228,COSM94254	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;SIFT=tolerated(0.6);PolyPhen=benign(0.002);EXON=7/10;DOMAINS=PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.646G>A;HGVSp=ENSP00000354194.3:p.Gly216Ser;GMAF=A:0.0023;AFR_MAF=A:0.01;SOMATIC=0,1
rs116698978	21:38818580	A	ENSG00000157557	ENST00000456966	Transcript	missense_variant	906	745	249	V/I	Gtc/Atc	rs116698978	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;SIFT=tolerated(0.22);PolyPhen=benign(0.005);EXON=7/7;HGVSc=ENST00000456966.1:c.745G>A;HGVSp=ENSP00000411086.1:p.Val249Ile;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.003631;EA_MAF=A:0.000116
rs116698978	21:38818580	A	ENSG00000157557	ENST00000360214	Transcript	missense_variant	1205	745	249	V/I	Gtc/Atc	rs116698978	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;SIFT=tolerated(0.49);PolyPhen=benign(0.005);EXON=8/11;DOMAINS=PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.745G>A;HGVSp=ENSP00000353344.3:p.Val249Ile;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.003631;EA_MAF=A:0.000116
rs116698978	21:38818580	A	ENSG00000157557	ENST00000432278	Transcript	downstream_gene_variant	-	-	-	-	-	rs116698978	DISTANCE=3599;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401273;SWISSPROT=P15036;UNIPARC=UPI0000169D59;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.003631;EA_MAF=A:0.000116
rs116698978	21:38818580	A	ENSG00000157557	ENST00000360938	Transcript	missense_variant	1035	745	249	V/I	Gtc/Atc	rs116698978	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;SIFT=tolerated(0.49);PolyPhen=benign(0.005);EXON=7/10;DOMAINS=PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.745G>A;HGVSp=ENSP00000354194.3:p.Val249Ile;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.003631;EA_MAF=A:0.000116
rs457705	21:38819507	G	ENSG00000157557	ENST00000456966	Transcript	downstream_gene_variant	-	-	-	-	-	rs457705,COSM444459,COSM1483938	DISTANCE=861;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;GMAF=T:0.3632;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.621652;EA_MAF=G:0.847907;SOMATIC=0,1,1
rs457705	21:38819507	G	ENSG00000157557	ENST00000360214	Transcript	synonymous_variant	1276	816	272	T	acT/acG	rs457705,COSM444459,COSM1483938	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=9/11;DOMAINS=Low_complexity_(Seg):Seg,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.816T>G;HGVSp=ENST00000360214.5:c.816T>G(p.%3D);GMAF=T:0.3632;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.621652;EA_MAF=G:0.847907;SOMATIC=0,1,1
rs457705	21:38819507	G	ENSG00000157557	ENST00000432278	Transcript	downstream_gene_variant	-	-	-	-	-	rs457705,COSM444459,COSM1483938	DISTANCE=4526;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401273;SWISSPROT=P15036;UNIPARC=UPI0000169D59;GMAF=T:0.3632;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.621652;EA_MAF=G:0.847907;SOMATIC=0,1,1
rs457705	21:38819507	G	ENSG00000157557	ENST00000360938	Transcript	synonymous_variant	1106	816	272	T	acT/acG	rs457705,COSM444459,COSM1483938	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=8/10;DOMAINS=Low_complexity_(Seg):Seg,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.816T>G;HGVSp=ENST00000360938.5:c.816T>G(p.%3D);GMAF=T:0.3632;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.621652;EA_MAF=G:0.847907;SOMATIC=0,1,1
rs113417859	21:38819624	T	ENSG00000157557	ENST00000456966	Transcript	downstream_gene_variant	-	-	-	-	-	rs113417859,COSM3550688,COSM3550687	DISTANCE=978;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs113417859	21:38819624	T	ENSG00000157557	ENST00000360214	Transcript	synonymous_variant	1393	933	311	F	ttC/ttT	rs113417859,COSM3550688,COSM3550687	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=9/11;DOMAINS=PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.933C>T;HGVSp=ENST00000360214.5:c.933C>T(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs113417859	21:38819624	T	ENSG00000157557	ENST00000432278	Transcript	downstream_gene_variant	-	-	-	-	-	rs113417859,COSM3550688,COSM3550687	DISTANCE=4643;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401273;SWISSPROT=P15036;UNIPARC=UPI0000169D59;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs113417859	21:38819624	T	ENSG00000157557	ENST00000360938	Transcript	synonymous_variant	1223	933	311	F	ttC/ttT	rs113417859,COSM3550688,COSM3550687	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=8/10;DOMAINS=PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.933C>T;HGVSp=ENST00000360938.5:c.933C>T(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs461155	21:38819714	G	ENSG00000157557	ENST00000456966	Transcript	downstream_gene_variant	-	-	-	-	-	rs461155	DISTANCE=1068;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;GMAF=A:0.3636;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.619610;EA_MAF=G:0.847907;PUBMED=23343470,22048266
rs461155	21:38819714	G	ENSG00000157557	ENST00000360214	Transcript	synonymous_variant	1483	1023	341	P	ccA/ccG	rs461155	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=9/11;DOMAINS=Superfamily_domains:SSF46785,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.1023A>G;HGVSp=ENST00000360214.5:c.1023A>G(p.%3D);GMAF=A:0.3636;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.619610;EA_MAF=G:0.847907;PUBMED=23343470,22048266
rs461155	21:38819714	G	ENSG00000157557	ENST00000432278	Transcript	downstream_gene_variant	-	-	-	-	-	rs461155	DISTANCE=4733;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401273;SWISSPROT=P15036;UNIPARC=UPI0000169D59;GMAF=A:0.3636;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.619610;EA_MAF=G:0.847907;PUBMED=23343470,22048266
rs461155	21:38819714	G	ENSG00000157557	ENST00000360938	Transcript	synonymous_variant	1313	1023	341	P	ccA/ccG	rs461155	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=8/10;DOMAINS=Superfamily_domains:SSF46785,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.1023A>G;HGVSp=ENST00000360938.5:c.1023A>G(p.%3D);GMAF=A:0.3636;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.619610;EA_MAF=G:0.847907;PUBMED=23343470,22048266
rs461155	21:38819714	G	-	ENSR00000613843	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs461155	BIOTYPE=promoter_flanking_region;GMAF=A:0.3636;AFR_MAF=G:0.57;AMR_MAF=G:0.63;ASN_MAF=G:0.43;EUR_MAF=G:0.84;AA_MAF=G:0.619610;EA_MAF=G:0.847907;PUBMED=23343470,22048266
rs116476013	21:38821689	T	ENSG00000157557	ENST00000456966	Transcript	downstream_gene_variant	-	-	-	-	-	rs116476013,COSM3785460,COSM3785461	DISTANCE=3043;STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000411086;TREMBL=C9JAG2;UNIPARC=UPI0000E5A3D3;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.004085;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs116476013	21:38821689	T	ENSG00000157557	ENST00000360214	Transcript	synonymous_variant	1639	1179	393	L	ctC/ctT	rs116476013,COSM3785460,COSM3785461	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13659.1;ENSP=ENSP00000353344;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=10/11;DOMAINS=Pfam_domain:PF00178,Prints_domain:PR00454,PROSITE_profiles:PS50061,SMART_domains:SM00413,Superfamily_domains:SSF46785,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360214.5:c.1179C>T;HGVSp=ENST00000360214.5:c.1179C>T(p.%3D);GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.004085;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs116476013	21:38821689	T	ENSG00000157557	ENST00000360938	Transcript	synonymous_variant	1469	1179	393	L	ctC/ctT	rs116476013,COSM3785460,COSM3785461	STRAND=1;SYMBOL=ETS2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3489;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13659.1;ENSP=ENSP00000354194;SWISSPROT=P15036;TREMBL=C9JAG2;UNIPARC=UPI0000000E04;EXON=9/10;DOMAINS=Pfam_domain:PF00178,Prints_domain:PR00454,PROSITE_profiles:PS50061,SMART_domains:SM00413,Superfamily_domains:SSF46785,PIRSF_domain:PIRSF001698;HGVSc=ENST00000360938.5:c.1179C>T;HGVSp=ENST00000360938.5:c.1179C>T(p.%3D);GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.004085;EA_MAF=T:0.000116;SOMATIC=0,1,1
rs61737060	21:43094491	T	ENSG00000160201	ENST00000475639	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	4380	-	-	-	-	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=1;EXON=6/7;HGVSc=ENST00000475639.3:n.4380G>A;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000496462	Transcript	downstream_gene_variant	-	-	-	-	-	rs61737060	DISTANCE=3131;STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=1;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000464750	Transcript	3_prime_UTR_variant,NMD_transcript_variant	652	-	-	-	-	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000420672;SWISSPROT=Q01081;UNIPARC=UPI0001B79040;EXON=8/9;HGVSc=ENST00000464750.3:c.*394G>A;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000478282	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1809	-	-	-	-	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=2;EXON=2/2;HGVSc=ENST00000478282.1:n.1809G>A;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000471250	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1362	-	-	-	-	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=2;EXON=2/3;HGVSc=ENST00000471250.3:n.1362G>A;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000380276	Transcript	synonymous_variant	626	555	185	L	ctG/ctA	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33574.1;ENSP=ENSP00000369629;SWISSPROT=Q01081;TREMBL=Q69YM7;UNIPARC=UPI000035CC34;EXON=7/8;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323;HGVSc=ENST00000380276.4:c.555G>A;HGVSp=ENST00000380276.4:c.555G>A(p.%3D);GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000486519	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	602	-	-	-	-	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=processed_transcript;TSL=3;EXON=7/8;HGVSc=ENST00000486519.3:n.602G>A;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000398137	Transcript	synonymous_variant	706	336	112	L	ctG/ctA	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS42948.1;ENSP=ENSP00000381205;SWISSPROT=Q01081;UNIPARC=UPI0000206C26;EXON=8/9;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323;HGVSc=ENST00000398137.3:c.336G>A;HGVSp=ENST00000398137.3:c.336G>A(p.%3D);GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000291552	Transcript	synonymous_variant	648	555	185	L	ctG/ctA	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13694.1;ENSP=ENSP00000291552;SWISSPROT=Q01081;UNIPARC=UPI0000000C26;EXON=7/8;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323;HGVSc=ENST00000291552.6:c.555G>A;HGVSp=ENST00000291552.6:c.555G>A(p.%3D);GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000459639	Transcript	synonymous_variant	1361	336	112	L	ctG/ctA	rs61737060	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS42948.1;ENSP=ENSP00000418705;SWISSPROT=Q01081;UNIPARC=UPI0000206C26;EXON=6/7;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50323;HGVSc=ENST00000459639.3:c.336G>A;HGVSp=ENST00000459639.3:c.336G>A(p.%3D);GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	ENSG00000160201	ENST00000463599	Transcript	downstream_gene_variant	-	-	-	-	-	rs61737060	DISTANCE=1211;STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=3;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737060	21:43094491	T	-	ENSR00000614397	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs61737060	BIOTYPE=promoter;GMAF=T:0.0069;AFR_MAF=T:0.03;AA_MAF=T:0.029505;EA_MAF=T:0.000233
rs61737061	21:43094699	A	ENSG00000160201	ENST00000475639	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	4263	-	-	-	-	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=1;EXON=5/7;HGVSc=ENST00000475639.3:n.4263C>T;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000496462	Transcript	downstream_gene_variant	-	-	-	-	-	rs61737061	DISTANCE=2923;STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=1;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000464750	Transcript	3_prime_UTR_variant,NMD_transcript_variant	535	-	-	-	-	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000420672;SWISSPROT=Q01081;UNIPARC=UPI0001B79040;EXON=7/9;HGVSc=ENST00000464750.3:c.*277C>T;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000478282	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1692	-	-	-	-	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=2;EXON=1/2;HGVSc=ENST00000478282.1:n.1692C>T;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000471250	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1245	-	-	-	-	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=2;EXON=1/3;HGVSc=ENST00000471250.3:n.1245C>T;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000380276	Transcript	synonymous_variant	509	438	146	P	ccC/ccT	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33574.1;ENSP=ENSP00000369629;SWISSPROT=Q01081;TREMBL=Q69YM7;UNIPARC=UPI000035CC34;EXON=6/8;DOMAINS=Prints_domain:PR01848,PROSITE_profiles:PS50102,Superfamily_domains:SSF54928;HGVSc=ENST00000380276.4:c.438C>T;HGVSp=ENST00000380276.4:c.438C>T(p.%3D);GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000486519	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	485	-	-	-	-	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=processed_transcript;TSL=3;EXON=6/8;HGVSc=ENST00000486519.3:n.485C>T;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000398137	Transcript	synonymous_variant	589	219	73	P	ccC/ccT	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS42948.1;ENSP=ENSP00000381205;SWISSPROT=Q01081;UNIPARC=UPI0000206C26;EXON=7/9;DOMAINS=PROSITE_profiles:PS50102,Prints_domain:PR01848,Superfamily_domains:SSF54928;HGVSc=ENST00000398137.3:c.219C>T;HGVSp=ENST00000398137.3:c.219C>T(p.%3D);GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000291552	Transcript	synonymous_variant	531	438	146	P	ccC/ccT	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13694.1;ENSP=ENSP00000291552;SWISSPROT=Q01081;UNIPARC=UPI0000000C26;EXON=6/8;DOMAINS=Prints_domain:PR01848,PROSITE_profiles:PS50102,Superfamily_domains:SSF54928;HGVSc=ENST00000291552.6:c.438C>T;HGVSp=ENST00000291552.6:c.438C>T(p.%3D);GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000459639	Transcript	synonymous_variant	1244	219	73	P	ccC/ccT	rs61737061	STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS42948.1;ENSP=ENSP00000418705;SWISSPROT=Q01081;UNIPARC=UPI0000206C26;EXON=5/7;DOMAINS=Prints_domain:PR01848,PROSITE_profiles:PS50102,Superfamily_domains:SSF54928;HGVSc=ENST00000459639.3:c.219C>T;HGVSp=ENST00000459639.3:c.219C>T(p.%3D);GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	ENSG00000160201	ENST00000463599	Transcript	downstream_gene_variant	-	-	-	-	-	rs61737061	DISTANCE=1003;STRAND=-1;SYMBOL=U2AF1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12453;BIOTYPE=retained_intron;TSL=3;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs61737061	21:43094699	A	-	ENSR00000614397	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs61737061	BIOTYPE=promoter;GMAF=A:0.0106;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.044712;EA_MAF=A:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000398061	Transcript	synonymous_variant	450	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381138;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/10;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000398061.3:c.267C>T;HGVSp=ENST00000398061.3:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000422850	Transcript	synonymous_variant	503	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000414440;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=3/6;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000422850.3:c.267C>T;HGVSp=ENST00000422850.3:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000479117	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	314	-	-	-	-	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=5;EXON=3/9;HGVSc=ENST00000479117.3:n.314C>T;GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000546158	Transcript	synonymous_variant	1010	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000443510;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=3/9;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000546158.1:c.267C>T;HGVSp=ENST00000546158.1:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000457068	Transcript	synonymous_variant	424	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000413906;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=3/6;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000457068.3:c.267C>T;HGVSp=ENST00000457068.3:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000398063	Transcript	synonymous_variant	759	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381140;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=3/9;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000398063.4:c.267C>T;HGVSp=ENST00000398063.4:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000481319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	385	-	-	-	-	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=3;EXON=3/4;HGVSc=ENST00000481319.1:n.385C>T;GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000448287	Transcript	downstream_gene_variant	-	-	-	-	-	rs115397760	DISTANCE=29;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000389318;TREMBL=C9JQX8,C9JK35;UNIPARC=UPI0000E5A3F8;GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000484865	Transcript	upstream_gene_variant	-	-	-	-	-	rs115397760	DISTANCE=3369;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000467358	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3106	-	-	-	-	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;EXON=1/7;HGVSc=ENST00000467358.3:n.3106C>T;GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000327505	Transcript	synonymous_variant	444	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000332989;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=3/9;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000327505.4:c.267C>T;HGVSp=ENST00000327505.4:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000445582	Transcript	synonymous_variant	465	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000412079;TREMBL=C9JQX8,C9JK35,C9J184;UNIPARC=UPI0000E5A3FB;EXON=3/4;HGVSc=ENST00000445582.3:c.267C>T;HGVSp=ENST00000445582.3:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000398058	Transcript	synonymous_variant	1193	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381135;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/11;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000398058.3:c.267C>T;HGVSp=ENST00000398058.3:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs115397760	21:43968034	T	ENSG00000160216	ENST00000291572	Transcript	synonymous_variant	538	267	89	H	caC/caT	rs115397760	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000291572;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/10;DOMAINS=Pfam_domain:PF01553;HGVSc=ENST00000291572.10:c.267C>T;HGVSp=ENST00000291572.10:c.267C>T(p.%3D);GMAF=T:0.0041;AFR_MAF=T:0.02;AMR_MAF=T:0.0028;AA_MAF=T:0.006809;EA_MAF=T:0.000116
rs79309256	21:43969150	G	ENSG00000160216	ENST00000398061	Transcript	synonymous_variant	564	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381138;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/10;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398061.3:c.381C>G;HGVSp=ENST00000398061.3:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000422850	Transcript	synonymous_variant	617	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000414440;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=4/6;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000422850.3:c.381C>G;HGVSp=ENST00000422850.3:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000479117	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	428	-	-	-	-	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=5;EXON=4/9;HGVSc=ENST00000479117.3:n.428C>G;GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000546158	Transcript	synonymous_variant	1124	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000443510;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000546158.1:c.381C>G;HGVSp=ENST00000546158.1:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000457068	Transcript	synonymous_variant	538	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000413906;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=4/6;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000457068.3:c.381C>G;HGVSp=ENST00000457068.3:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000398063	Transcript	synonymous_variant	873	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381140;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398063.4:c.381C>G;HGVSp=ENST00000398063.4:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000481319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	499	-	-	-	-	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000481319.1:n.499C>G;GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000448287	Transcript	downstream_gene_variant	-	-	-	-	-	rs79309256	DISTANCE=1145;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000389318;TREMBL=C9JQX8,C9JK35;UNIPARC=UPI0000E5A3F8;GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000484865	Transcript	upstream_gene_variant	-	-	-	-	-	rs79309256	DISTANCE=2253;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000467358	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3220	-	-	-	-	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;EXON=2/7;HGVSc=ENST00000467358.3:n.3220C>G;GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000327505	Transcript	synonymous_variant	558	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000332989;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000327505.4:c.381C>G;HGVSp=ENST00000327505.4:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000445582	Transcript	synonymous_variant	579	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000412079;TREMBL=C9JQX8,C9JK35,C9J184;UNIPARC=UPI0000E5A3FB;EXON=4/4;HGVSc=ENST00000445582.3:c.381C>G;HGVSp=ENST00000445582.3:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000398058	Transcript	synonymous_variant	1307	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381135;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=6/11;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398058.3:c.381C>G;HGVSp=ENST00000398058.3:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs79309256	21:43969150	G	ENSG00000160216	ENST00000291572	Transcript	synonymous_variant	652	381	127	L	ctC/ctG	rs79309256	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000291572;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/10;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000291572.10:c.381C>G;HGVSp=ENST00000291572.10:c.381C>G(p.%3D);GMAF=G:0.0032;AFR_MAF=G:0.01;AMR_MAF=G:0.01;AA_MAF=G:0.008625;EA_MAF=G:0
rs75532875	21:43969159	T	ENSG00000160216	ENST00000398061	Transcript	synonymous_variant	573	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381138;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/10;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398061.3:c.390C>T;HGVSp=ENST00000398061.3:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000422850	Transcript	synonymous_variant	626	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000414440;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=4/6;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000422850.3:c.390C>T;HGVSp=ENST00000422850.3:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000479117	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	437	-	-	-	-	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=5;EXON=4/9;HGVSc=ENST00000479117.3:n.437C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000546158	Transcript	synonymous_variant	1133	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000443510;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000546158.1:c.390C>T;HGVSp=ENST00000546158.1:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000457068	Transcript	synonymous_variant	547	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000413906;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=4/6;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000457068.3:c.390C>T;HGVSp=ENST00000457068.3:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000398063	Transcript	synonymous_variant	882	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381140;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398063.4:c.390C>T;HGVSp=ENST00000398063.4:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000481319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	508	-	-	-	-	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000481319.1:n.508C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000448287	Transcript	downstream_gene_variant	-	-	-	-	-	rs75532875	DISTANCE=1154;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000389318;TREMBL=C9JQX8,C9JK35;UNIPARC=UPI0000E5A3F8;GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000484865	Transcript	upstream_gene_variant	-	-	-	-	-	rs75532875	DISTANCE=2244;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000467358	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3229	-	-	-	-	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;EXON=2/7;HGVSc=ENST00000467358.3:n.3229C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000327505	Transcript	synonymous_variant	567	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000332989;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000327505.4:c.390C>T;HGVSp=ENST00000327505.4:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000445582	Transcript	downstream_gene_variant	-	-	-	-	-	rs75532875	DISTANCE=6;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000412079;TREMBL=C9JQX8,C9JK35,C9J184;UNIPARC=UPI0000E5A3FB;GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000398058	Transcript	synonymous_variant	1316	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381135;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=6/11;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398058.3:c.390C>T;HGVSp=ENST00000398058.3:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs75532875	21:43969159	T	ENSG00000160216	ENST00000291572	Transcript	synonymous_variant	661	390	130	P	ccC/ccT	rs75532875	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000291572;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/10;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000291572.10:c.390C>T;HGVSp=ENST00000291572.10:c.390C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;AMR_MAF=T:0.01;AA_MAF=T:0.020881;EA_MAF=T:0.003256
rs115875072	21:43969246	A	ENSG00000160216	ENST00000398061	Transcript	synonymous_variant	660	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381138;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/10;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398061.3:c.477G>A;HGVSp=ENST00000398061.3:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000422850	Transcript	synonymous_variant	713	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000414440;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=4/6;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000422850.3:c.477G>A;HGVSp=ENST00000422850.3:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000479117	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	524	-	-	-	-	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=5;EXON=4/9;HGVSc=ENST00000479117.3:n.524G>A;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000546158	Transcript	synonymous_variant	1220	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000443510;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000546158.1:c.477G>A;HGVSp=ENST00000546158.1:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000457068	Transcript	synonymous_variant	634	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000413906;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI0000E5A3F9;EXON=4/6;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000457068.3:c.477G>A;HGVSp=ENST00000457068.3:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000398063	Transcript	synonymous_variant	969	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381140;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398063.4:c.477G>A;HGVSp=ENST00000398063.4:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000481319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	595	-	-	-	-	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000481319.1:n.595G>A;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000448287	Transcript	downstream_gene_variant	-	-	-	-	-	rs115875072,COSM3799957	DISTANCE=1241;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000389318;TREMBL=C9JQX8,C9JK35;UNIPARC=UPI0000E5A3F8;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000484865	Transcript	upstream_gene_variant	-	-	-	-	-	rs115875072,COSM3799957	DISTANCE=2157;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000467358	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3316	-	-	-	-	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;EXON=2/7;HGVSc=ENST00000467358.3:n.3316G>A;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000327505	Transcript	synonymous_variant	654	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000332989;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=4/9;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000327505.4:c.477G>A;HGVSp=ENST00000327505.4:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000445582	Transcript	downstream_gene_variant	-	-	-	-	-	rs115875072,COSM3799957	DISTANCE=93;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000412079;TREMBL=C9JQX8,C9JK35,C9J184;UNIPARC=UPI0000E5A3FB;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000398058	Transcript	synonymous_variant	1403	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381135;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=6/11;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000398058.3:c.477G>A;HGVSp=ENST00000398058.3:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs115875072	21:43969246	A	ENSG00000160216	ENST00000291572	Transcript	synonymous_variant	748	477	159	L	ctG/ctA	rs115875072,COSM3799957	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000291572;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=5/10;DOMAINS=Pfam_domain:PF01553,SMART_domains:SM00563;HGVSc=ENST00000291572.10:c.477G>A;HGVSp=ENST00000291572.10:c.477G>A(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.001816;EA_MAF=A:0;SOMATIC=0,1
rs114573236	21:43982389	G	ENSG00000160216	ENST00000398061	Transcript	synonymous_variant	1311	1128	376	E	gaA/gaG	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381138;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=10/10;HGVSc=ENST00000398061.3:c.1128A>G;HGVSp=ENST00000398061.3:c.1128A>G(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000479117	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1175	-	-	-	-	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=processed_transcript;TSL=5;EXON=9/9;HGVSc=ENST00000479117.3:n.1175A>G;GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000546158	Transcript	synonymous_variant	1871	1128	376	E	gaA/gaG	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000443510;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=9/9;HGVSc=ENST00000546158.1:c.1128A>G;HGVSp=ENST00000546158.1:c.1128A>G(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000398063	Transcript	synonymous_variant	1620	1128	376	E	gaA/gaG	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381140;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=9/9;HGVSc=ENST00000398063.4:c.1128A>G;HGVSp=ENST00000398063.4:c.1128A>G(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000484865	Transcript	downstream_gene_variant	-	-	-	-	-	rs114573236	DISTANCE=977;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000467358	Transcript	downstream_gene_variant	-	-	-	-	-	rs114573236	DISTANCE=12;STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=retained_intron;TSL=2;GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000327505	Transcript	synonymous_variant	1305	1128	376	E	gaA/gaG	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000332989;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=9/9;HGVSc=ENST00000327505.4:c.1128A>G;HGVSp=ENST00000327505.4:c.1128A>G(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000398058	Transcript	synonymous_variant	2054	1128	376	E	gaA/gaG	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000381135;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=11/11;HGVSc=ENST00000398058.3:c.1128A>G;HGVSp=ENST00000398058.3:c.1128A>G(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041
rs114573236	21:43982389	G	ENSG00000160216	ENST00000291572	Transcript	synonymous_variant	1399	1128	376	E	gaA/gaG	rs114573236	STRAND=1;SYMBOL=AGPAT3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13703.1;ENSP=ENSP00000291572;SWISSPROT=Q9NRZ7;TREMBL=C9JQX8,C9JK35,C9JL26,C9J184;UNIPARC=UPI000004616E;EXON=10/10;HGVSc=ENST00000291572.10:c.1128A>G;HGVSp=ENST00000291572.10:c.1128A>G(p.%3D);GMAF=G:0.0009;AFR_MAF=G:0.0041
rs7289170	22:17181903	G	ENSG00000093072	ENST00000469063	Transcript	downstream_gene_variant	-	-	-	-	-	rs7289170,COSM3759019,COSM3759020	DISTANCE=738;STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs7289170	22:17181903	G	ENSG00000093072	ENST00000262607	Transcript	synonymous_variant	1571	1359	453	Y	taT/taC	rs7289170,COSM3759019,COSM3759020	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13742.1;ENSP=ENSP00000262607;SWISSPROT=Q9NZK5;TREMBL=B4DHM2,B4E3Q4,C9IZA8,F5H7J3;UNIPARC=UPI000013D2E8;EXON=8/9;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000262607.3:c.1359T>C;HGVSp=ENST00000262607.3:c.1359T>C(p.%3D);GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs7289170	22:17181903	G	ENSG00000093072	ENST00000610390	Transcript	synonymous_variant	1267	999	333	Y	taT/taC	rs7289170,COSM3759019,COSM3759020	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS74809.1;ENSP=ENSP00000483418;UNIPARC=UPI0000E06AFA;EXON=8/9;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000610390.2:c.999T>C;HGVSp=ENST00000610390.2:c.999T>C(p.%3D);GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs7289170	22:17181903	G	ENSG00000093072	ENST00000449907	Transcript	synonymous_variant	1408	1233	411	Y	taT/taC	rs7289170,COSM3759019,COSM3759020	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63395.1;ENSP=ENSP00000406443;TREMBL=B4DHM2,B4E3Q4;UNIPARC=UPI00017A8909;EXON=9/10;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000449907.4:c.1233T>C;HGVSp=ENST00000449907.4:c.1233T>C(p.%3D);GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs7289170	22:17181903	G	ENSG00000093072	ENST00000399839	Transcript	synonymous_variant	1630	1359	453	Y	taT/taC	rs7289170,COSM3759019,COSM3759020	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13742.1;ENSP=ENSP00000382733;SWISSPROT=Q9NZK5;TREMBL=B4DHM2,B4E3Q4,C9IZA8,F5H7J3;UNIPARC=UPI000013D2E8;EXON=9/10;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000399839.3:c.1359T>C;HGVSp=ENST00000399839.3:c.1359T>C(p.%3D);GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs7289170	22:17181903	G	ENSG00000093072	ENST00000330232	Transcript	synonymous_variant	841	636	212	Y	taT/taC	rs7289170,COSM3759019,COSM3759020	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13743.1;ENSP=ENSP00000332871;SWISSPROT=Q9NZK5;UNIPARC=UPI000015F376;EXON=6/7;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000330232.6:c.636T>C;HGVSp=ENST00000330232.6:c.636T>C(p.%3D);GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs7289170	22:17181903	G	ENSG00000093072	ENST00000399837	Transcript	synonymous_variant	1635	1359	453	Y	taT/taC	rs7289170,COSM3759019,COSM3759020	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13742.1;ENSP=ENSP00000382731;SWISSPROT=Q9NZK5;TREMBL=B4DHM2,B4E3Q4,C9IZA8,F5H7J3;UNIPARC=UPI000013D2E8;EXON=9/10;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000399837.4:c.1359T>C;HGVSp=ENST00000399837.4:c.1359T>C(p.%3D);GMAF=G:0.2176;AFR_MAF=G:0.24;AMR_MAF=G:0.24;ASN_MAF=G:0.04;EUR_MAF=G:0.32;AA_MAF=G:0.242851;EA_MAF=G:0.332442;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000262607	Transcript	missense_variant	1216	1004	335	H/R	cAt/cGt	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13742.1;ENSP=ENSP00000262607;SWISSPROT=Q9NZK5;TREMBL=B4DHM2,B4E3Q4,C9IZA8,F5H7J3;UNIPARC=UPI000013D2E8;SIFT=tolerated(0.14);PolyPhen=benign(0.001);EXON=6/9;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000262607.3:c.1004A>G;HGVSp=ENSP00000262607.2:p.His335Arg;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000610390	Transcript	missense_variant	912	644	215	H/R	cAt/cGt	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS74809.1;ENSP=ENSP00000483418;UNIPARC=UPI0000E06AFA;SIFT=tolerated(0.19);PolyPhen=benign(0.001);EXON=6/9;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000610390.2:c.644A>G;HGVSp=ENSP00000483418.1:p.His215Arg;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000449907	Transcript	missense_variant	1053	878	293	H/R	cAt/cGt	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63395.1;ENSP=ENSP00000406443;TREMBL=B4DHM2,B4E3Q4;UNIPARC=UPI00017A8909;SIFT=tolerated(0.19);PolyPhen=benign(0.001);EXON=7/10;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000449907.4:c.878A>G;HGVSp=ENSP00000406443.2:p.His293Arg;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000399839	Transcript	missense_variant	1275	1004	335	H/R	cAt/cGt	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13742.1;ENSP=ENSP00000382733;SWISSPROT=Q9NZK5;TREMBL=B4DHM2,B4E3Q4,C9IZA8,F5H7J3;UNIPARC=UPI000013D2E8;SIFT=tolerated(0.14);PolyPhen=benign(0.001);EXON=7/10;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000399839.3:c.1004A>G;HGVSp=ENSP00000382733.1:p.His335Arg;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000330232	Transcript	missense_variant	486	281	94	H/R	cAt/cGt	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13743.1;ENSP=ENSP00000332871;SWISSPROT=Q9NZK5;UNIPARC=UPI000015F376;SIFT=tolerated(0.34);PolyPhen=benign(0.004);EXON=4/7;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000330232.6:c.281A>G;HGVSp=ENSP00000332871.4:p.His94Arg;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000469063	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	312	-	-	-	-	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=processed_transcript;TSL=4;EXON=1/2;HGVSc=ENST00000469063.1:n.312A>G;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000236325	ENST00000428401	Transcript	upstream_gene_variant	-	-	-	-	-	rs2231495,COSM4002079,COSM4002080	DISTANCE=4520;STRAND=1;SYMBOL=AC005300.5;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=processed_pseudogene;CANONICAL=YES;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000399837	Transcript	missense_variant	1280	1004	335	H/R	cAt/cGt	rs2231495,COSM4002079,COSM4002080	STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13742.1;ENSP=ENSP00000382731;SWISSPROT=Q9NZK5;TREMBL=B4DHM2,B4E3Q4,C9IZA8,F5H7J3;UNIPARC=UPI000013D2E8;SIFT=tolerated(0.14);PolyPhen=benign(0.001);EXON=7/10;DOMAINS=Pfam_domain:PF00962,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556;HGVSc=ENST00000399837.4:c.1004A>G;HGVSp=ENSP00000382731.2:p.His335Arg;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	ENSG00000093072	ENST00000480276	Transcript	downstream_gene_variant	-	-	-	-	-	rs2231495,COSM4002079,COSM4002080	DISTANCE=1368;STRAND=-1;SYMBOL=CECR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1839;BIOTYPE=processed_transcript;TSL=3;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs2231495	22:17188416	C	-	ENSR00000615183	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2231495,COSM4002079,COSM4002080	BIOTYPE=CTCF_binding_site;GMAF=C:0.3333;AFR_MAF=C:0.52;AMR_MAF=C:0.27;ASN_MAF=C:0.21;EUR_MAF=C:0.33;AA_MAF=C:0.547208;EA_MAF=C:0.333023;SOMATIC=0,1,1
rs34000365	22:19353405	A	ENSG00000100084	ENST00000340170	Transcript	synonymous_variant	2398	2178	726	H	caC/caT	rs34000365	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000345350;SWISSPROT=P54198;UNIPARC=UPI0000207B68;EXON=19/21;DOMAINS=Pfam_domain:PF07569;HGVSc=ENST00000340170.6:c.2178C>T;HGVSp=ENST00000340170.6:c.2178C>T(p.%3D);GMAF=A:0.0073;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.028143;EA_MAF=A:0.000930
rs34000365	22:19353405	A	ENSG00000100084	ENST00000263208	Transcript	synonymous_variant	3056	2799	933	H	caC/caT	rs34000365	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13759.1;ENSP=ENSP00000263208;SWISSPROT=P54198;UNIPARC=UPI0000074373;EXON=23/25;DOMAINS=Pfam_domain:PF07569;HGVSc=ENST00000263208.5:c.2799C>T;HGVSp=ENST00000263208.5:c.2799C>T(p.%3D);GMAF=A:0.0073;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.028143;EA_MAF=A:0.000930
rs34000365	22:19353405	A	ENSG00000242259	ENST00000509549	Transcript	3_prime_UTR_variant,NMD_transcript_variant	2851	-	-	-	-	rs34000365	STRAND=-1;SYMBOL=C22orf39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27012;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000424903;TREMBL=E0CX16;UNIPARC=UPI00004DEB5E;EXON=23/24;HGVSc=ENST00000509549.3:c.*2569C>T;GMAF=A:0.0073;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.028143;EA_MAF=A:0.000930
rs115877869	22:19378003	C	ENSG00000100084	ENST00000340170	Transcript	synonymous_variant	1699	1479	493	L	ctC/ctG	rs115877869	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000345350;SWISSPROT=P54198;UNIPARC=UPI0000207B68;EXON=14/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000340170.6:c.1479C>G;HGVSp=ENST00000340170.6:c.1479C>G(p.%3D);GMAF=C:0.0018;AFR_MAF=C:0.01;AA_MAF=C:0.000227;EA_MAF=C:0
rs115877869	22:19378003	C	ENSG00000100084	ENST00000263208	Transcript	synonymous_variant	1736	1479	493	L	ctC/ctG	rs115877869	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13759.1;ENSP=ENSP00000263208;SWISSPROT=P54198;UNIPARC=UPI0000074373;EXON=14/25;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000263208.5:c.1479C>G;HGVSp=ENST00000263208.5:c.1479C>G(p.%3D);GMAF=C:0.0018;AFR_MAF=C:0.01;AA_MAF=C:0.000227;EA_MAF=C:0
rs115877869	22:19378003	C	ENSG00000242259	ENST00000509549	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1637	-	-	-	-	rs115877869	STRAND=-1;SYMBOL=C22orf39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27012;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000424903;TREMBL=E0CX16;UNIPARC=UPI00004DEB5E;EXON=15/24;HGVSc=ENST00000509549.3:c.*1355C>G;GMAF=C:0.0018;AFR_MAF=C:0.01;AA_MAF=C:0.000227;EA_MAF=C:0
rs61735928	22:19383643	A	ENSG00000100084	ENST00000340170	Transcript	synonymous_variant	1612	1392	464	L	ctC/ctT	rs20550	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000345350;SWISSPROT=P54198;UNIPARC=UPI0000207B68;EXON=13/21;DOMAINS=Pfam_domain:PF09453;HGVSc=ENST00000340170.6:c.1392C>T;HGVSp=ENST00000340170.6:c.1392C>T(p.%3D);GMAF=A:0.0051;AA_MAF=A:0.021562;EA_MAF=A:0
rs61735928	22:19383643	A	ENSG00000100084	ENST00000263208	Transcript	synonymous_variant	1649	1392	464	L	ctC/ctT	rs20550	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13759.1;ENSP=ENSP00000263208;SWISSPROT=P54198;UNIPARC=UPI0000074373;EXON=13/25;DOMAINS=Pfam_domain:PF09453;HGVSc=ENST00000263208.5:c.1392C>T;HGVSp=ENST00000263208.5:c.1392C>T(p.%3D);GMAF=A:0.0051;AA_MAF=A:0.021562;EA_MAF=A:0
rs61735928	22:19383643	A	ENSG00000242259	ENST00000509549	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1550	-	-	-	-	rs20550	STRAND=-1;SYMBOL=C22orf39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27012;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000424903;TREMBL=E0CX16;UNIPARC=UPI00004DEB5E;EXON=14/24;HGVSc=ENST00000509549.3:c.*1268C>T;GMAF=A:0.0051;AA_MAF=A:0.021562;EA_MAF=A:0
rs115157927	22:19385577	T	ENSG00000100084	ENST00000340170	Transcript	missense_variant	1493	1273	425	S/T	Tca/Aca	rs115157927	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000345350;SWISSPROT=P54198;UNIPARC=UPI0000207B68;SIFT=tolerated(0.47);PolyPhen=benign(0.016);EXON=12/21;HGVSc=ENST00000340170.6:c.1273T>A;HGVSp=ENSP00000345350.4:p.Ser425Thr;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000681;EA_MAF=T:0
rs115157927	22:19385577	T	ENSG00000100084	ENST00000263208	Transcript	missense_variant	1530	1273	425	S/T	Tca/Aca	rs115157927	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13759.1;ENSP=ENSP00000263208;SWISSPROT=P54198;UNIPARC=UPI0000074373;SIFT=tolerated(0.39);PolyPhen=benign(0.001);EXON=12/25;HGVSc=ENST00000263208.5:c.1273T>A;HGVSp=ENSP00000263208.5:p.Ser425Thr;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000681;EA_MAF=T:0
rs115157927	22:19385577	T	ENSG00000242259	ENST00000509549	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1431	-	-	-	-	rs115157927	STRAND=-1;SYMBOL=C22orf39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27012;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000424903;TREMBL=E0CX16;UNIPARC=UPI00004DEB5E;EXON=13/24;HGVSc=ENST00000509549.3:c.*1149T>A;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000681;EA_MAF=T:0
rs9618556	22:19396832	T	ENSG00000100084	ENST00000452818	Transcript	downstream_gene_variant	-	-	-	-	-	rs9618556	DISTANCE=1236;STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000404792;UNIPARC=UPI0001881500;GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.008852;EA_MAF=T:0.001163
rs9618556	22:19396832	T	ENSG00000100084	ENST00000464189	Transcript	downstream_gene_variant	-	-	-	-	-	rs9618556	DISTANCE=1229;STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=processed_transcript;TSL=4;GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.008852;EA_MAF=T:0.001163
rs9618556	22:19396832	T	ENSG00000100084	ENST00000340170	Transcript	synonymous_variant	829	609	203	T	acG/acA	rs9618556	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000345350;SWISSPROT=P54198;UNIPARC=UPI0000207B68;EXON=7/21;DOMAINS=PROSITE_profiles:PS50294,Superfamily_domains:SSF50978;HGVSc=ENST00000340170.6:c.609G>A;HGVSp=ENST00000340170.6:c.609G>A(p.%3D);GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.008852;EA_MAF=T:0.001163
rs9618556	22:19396832	T	ENSG00000100084	ENST00000263208	Transcript	synonymous_variant	866	609	203	T	acG/acA	rs9618556	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13759.1;ENSP=ENSP00000263208;SWISSPROT=P54198;UNIPARC=UPI0000074373;EXON=7/25;DOMAINS=PROSITE_profiles:PS50294,Superfamily_domains:SSF50978;HGVSc=ENST00000263208.5:c.609G>A;HGVSp=ENST00000263208.5:c.609G>A(p.%3D);GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.008852;EA_MAF=T:0.001163
rs9618556	22:19396832	T	ENSG00000242259	ENST00000509549	Transcript	3_prime_UTR_variant,NMD_transcript_variant	767	-	-	-	-	rs9618556	STRAND=-1;SYMBOL=C22orf39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27012;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000424903;TREMBL=E0CX16;UNIPARC=UPI00004DEB5E;EXON=8/24;HGVSc=ENST00000509549.3:c.*485G>A;GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.008852;EA_MAF=T:0.001163
rs9618556	22:19396832	T	-	ENSR00000291171	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs9618556	BIOTYPE=TF_binding_site;GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.008852;EA_MAF=T:0.001163
rs116458396	22:19396916	A	ENSG00000100084	ENST00000452818	Transcript	downstream_gene_variant	-	-	-	-	-	rs116458396	DISTANCE=1152;STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000404792;UNIPARC=UPI0001881500;GMAF=A:0.0023;AFR_MAF=A:0.01;AA_MAF=A:0.000454;EA_MAF=A:0
rs116458396	22:19396916	A	ENSG00000100084	ENST00000464189	Transcript	downstream_gene_variant	-	-	-	-	-	rs116458396	DISTANCE=1145;STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=processed_transcript;TSL=4;GMAF=A:0.0023;AFR_MAF=A:0.01;AA_MAF=A:0.000454;EA_MAF=A:0
rs116458396	22:19396916	A	ENSG00000100084	ENST00000340170	Transcript	synonymous_variant	745	525	175	G	ggC/ggT	rs116458396	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000345350;SWISSPROT=P54198;UNIPARC=UPI0000207B68;EXON=7/21;DOMAINS=Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,SMART_domains:SM00320,Superfamily_domains:SSF50978;HGVSc=ENST00000340170.6:c.525C>T;HGVSp=ENST00000340170.6:c.525C>T(p.%3D);GMAF=A:0.0023;AFR_MAF=A:0.01;AA_MAF=A:0.000454;EA_MAF=A:0
rs116458396	22:19396916	A	ENSG00000100084	ENST00000263208	Transcript	synonymous_variant	782	525	175	G	ggC/ggT	rs116458396	STRAND=-1;SYMBOL=HIRA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4916;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13759.1;ENSP=ENSP00000263208;SWISSPROT=P54198;UNIPARC=UPI0000074373;EXON=7/25;DOMAINS=Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,SMART_domains:SM00320,Superfamily_domains:SSF50978;HGVSc=ENST00000263208.5:c.525C>T;HGVSp=ENST00000263208.5:c.525C>T(p.%3D);GMAF=A:0.0023;AFR_MAF=A:0.01;AA_MAF=A:0.000454;EA_MAF=A:0
rs116458396	22:19396916	A	ENSG00000242259	ENST00000509549	Transcript	3_prime_UTR_variant,NMD_transcript_variant	683	-	-	-	-	rs116458396	STRAND=-1;SYMBOL=C22orf39;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27012;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000424903;TREMBL=E0CX16;UNIPARC=UPI00004DEB5E;EXON=8/24;HGVSc=ENST00000509549.3:c.*401C>T;GMAF=A:0.0023;AFR_MAF=A:0.01;AA_MAF=A:0.000454;EA_MAF=A:0
rs116458396	22:19396916	A	-	ENSR00000291171	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs116458396	BIOTYPE=TF_binding_site;GMAF=A:0.0023;AFR_MAF=A:0.01;AA_MAF=A:0.000454;EA_MAF=A:0
rs5993890	22:19971306	A	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	3103	2811	937	P	ccC/ccT	rs5993890,COSM3759039	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=19/20;HGVSc=ENST00000263207.5:c.2811C>T;HGVSp=ENST00000263207.5:c.2811C>T(p.%3D);GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	2604	2604	868	P	ccC/ccT	rs5993890,COSM3759039	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=16/16;HGVSc=ENST00000406522.3:c.2604C>T;HGVSp=ENST00000406522.3:c.2604C>T(p.%3D);GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000428707	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=3612;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000387695;UNIPARC=UPI0001611031;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000207636	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=2290;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000207636;TREMBL=F2WW53,Q7KZP0,F8WBW9;UNIPARC=UPI0001611030;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000407537	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=2308;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13770.1;ENSP=ENSP00000384654;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000361682	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=1331;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13770.1;ENSP=ENSP00000354511;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	2793	2793	931	P	ccC/ccT	rs5993890,COSM3759039	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=16/16;HGVSc=ENST00000406259.1:c.2793C>T;HGVSp=ENST00000406259.1:c.2793C>T(p.%3D);GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000099889	ENST00000495096	Transcript	intron_variant,non_coding_transcript_variant	-	-	-	-	-	rs5993890,COSM3759039	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;INTRON=11/11;HGVSc=ENST00000495096.3:n.1704-563C>T;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000449653	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=2308;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS46663.1;ENSP=ENSP00000416778;SWISSPROT=P21964;TREMBL=F2WW53;UNIPARC=UPI0000160C04;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000412786	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=2717;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000403958;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0001E8EEEF;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000406520	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=2290;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13770.1;ENSP=ENSP00000385150;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000099889	ENST00000480792	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=1856;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000093010	ENST00000403710	Transcript	downstream_gene_variant	-	-	-	-	-	rs5993890,COSM3759039	DISTANCE=2348;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13770.1;ENSP=ENSP00000385917;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs5993890	22:19971306	A	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	2622	2622	874	P	ccC/ccT	rs5993890,COSM3759039	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=17/17;HGVSc=ENST00000401994.3:c.2622C>T;HGVSp=ENST00000401994.3:c.2622C>T(p.%3D);GMAF=A:0.0712;AFR_MAF=A:0.18;AMR_MAF=A:0.06;ASN_MAF=A:0.02;EUR_MAF=A:0.04;AA_MAF=A:0.124007;EA_MAF=A:0.048665;SOMATIC=0,1;PUBMED=20333729
rs114971216	22:19972976	T	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	2791	2499	833	K	aaG/aaA	rs114971216	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=15/20;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.2499G>A;HGVSp=ENST00000263207.5:c.2499G>A(p.%3D);GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	2292	2292	764	K	aaG/aaA	rs114971216	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=12/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.2292G>A;HGVSp=ENST00000406522.3:c.2292G>A(p.%3D);GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000207636	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=3960;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000207636;TREMBL=F2WW53,Q7KZP0,F8WBW9;UNIPARC=UPI0001611030;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000407537	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=3978;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13770.1;ENSP=ENSP00000384654;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000361682	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=3001;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13770.1;ENSP=ENSP00000354511;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	2481	2481	827	K	aaG/aaA	rs114971216	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=12/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.2481G>A;HGVSp=ENST00000406259.1:c.2481G>A(p.%3D);GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000099889	ENST00000495096	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1421	-	-	-	-	rs114971216	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=8/12;HGVSc=ENST00000495096.3:n.1421G>A;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000449653	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=3978;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS46663.1;ENSP=ENSP00000416778;SWISSPROT=P21964;TREMBL=F2WW53;UNIPARC=UPI0000160C04;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000412786	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=4387;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000403958;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0001E8EEEF;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000406520	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=3960;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13770.1;ENSP=ENSP00000385150;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000099889	ENST00000480792	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=186;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000093010	ENST00000403710	Transcript	downstream_gene_variant	-	-	-	-	-	rs114971216	DISTANCE=4018;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13770.1;ENSP=ENSP00000385917;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs114971216	22:19972976	T	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	2310	2310	770	K	aaG/aaA	rs114971216	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=13/17;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.2310G>A;HGVSp=ENST00000401994.3:c.2310G>A(p.%3D);GMAF=T:0.0083;AFR_MAF=T:0.03;EUR_MAF=T:0.0040;AA_MAF=T:0.018611;EA_MAF=T:0.002674
rs115736959	22:19973143	A	ENSG00000099889	ENST00000263207	Transcript	missense_variant	2706	2414	805	A/V	gCg/gTg	rs115736959	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=deleterious(0.01);PolyPhen=benign(0.002);EXON=14/20;DOMAINS=SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.2414C>T;HGVSp=ENSP00000263207.3:p.Ala805Val;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000099889	ENST00000406522	Transcript	missense_variant	2207	2207	736	A/V	gCg/gTg	rs115736959	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;SIFT=deleterious(0.01);PolyPhen=benign(0.003);EXON=11/16;DOMAINS=SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.2207C>T;HGVSp=ENSP00000384732.1:p.Ala736Val;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000207636	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=4127;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000207636;TREMBL=F2WW53,Q7KZP0,F8WBW9;UNIPARC=UPI0001611030;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000407537	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=4145;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13770.1;ENSP=ENSP00000384654;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000361682	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=3168;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13770.1;ENSP=ENSP00000354511;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000099889	ENST00000406259	Transcript	missense_variant	2396	2396	799	A/V	gCg/gTg	rs115736959	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=deleterious(0.02);PolyPhen=benign(0.002);EXON=11/16;DOMAINS=SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.2396C>T;HGVSp=ENSP00000385444.1:p.Ala799Val;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000099889	ENST00000495096	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1336	-	-	-	-	rs115736959	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=7/12;HGVSc=ENST00000495096.3:n.1336C>T;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000449653	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=4145;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS46663.1;ENSP=ENSP00000416778;SWISSPROT=P21964;TREMBL=F2WW53;UNIPARC=UPI0000160C04;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000412786	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=4554;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000403958;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0001E8EEEF;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000406520	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=4127;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13770.1;ENSP=ENSP00000385150;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000099889	ENST00000480792	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=19;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000093010	ENST00000403710	Transcript	downstream_gene_variant	-	-	-	-	-	rs115736959	DISTANCE=4185;STRAND=1;SYMBOL=COMT;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2228;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13770.1;ENSP=ENSP00000385917;SWISSPROT=P21964;TREMBL=F2WW53,Q7KZP0,E7EMS6;UNIPARC=UPI0000000CBF;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs115736959	22:19973143	A	ENSG00000099889	ENST00000401994	Transcript	missense_variant	2225	2225	742	A/V	gCg/gTg	rs115736959	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;SIFT=deleterious(0.01);PolyPhen=benign(0.007);EXON=12/17;DOMAINS=SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.2225C>T;HGVSp=ENSP00000384341.1:p.Ala742Val;GMAF=A:0.0115;AFR_MAF=A:0.04;AMR_MAF=A:0.01;AA_MAF=A:0.042883;EA_MAF=A:0.000233
rs76496156	22:19979039	T	ENSG00000099889	ENST00000263207	Transcript	missense_variant	1730	1438	480	V/I	Gtc/Atc	rs76496156	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=tolerated(0.42);PolyPhen=benign(0.092);EXON=7/20;DOMAINS=PROSITE_profiles:PS50176,Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.1438G>A;HGVSp=ENSP00000263207.3:p.Val480Ile;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000406522	Transcript	missense_variant	1249	1249	417	V/I	Gtc/Atc	rs76496156	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;SIFT=tolerated(0.43);PolyPhen=probably_damaging(0.986);EXON=5/16;DOMAINS=PROSITE_profiles:PS50176,Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.1249G>A;HGVSp=ENSP00000384732.1:p.Val417Ile;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000487793	Transcript	downstream_gene_variant	-	-	-	-	-	rs76496156	DISTANCE=2113;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000406259	Transcript	missense_variant	1438	1438	480	V/I	Gtc/Atc	rs76496156	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=tolerated(0.15);PolyPhen=benign(0.099);EXON=5/16;DOMAINS=PROSITE_profiles:PS50176,Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.1438G>A;HGVSp=ENSP00000385444.1:p.Val480Ile;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000495096	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	378	-	-	-	-	rs76496156	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=1/12;HGVSc=ENST00000495096.3:n.378G>A;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs76496156	DISTANCE=2506;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000492625	Transcript	downstream_gene_variant	-	-	-	-	-	rs76496156	DISTANCE=2343;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000473551	Transcript	downstream_gene_variant	-	-	-	-	-	rs76496156	DISTANCE=958;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs76496156	DISTANCE=2952;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000480792	Transcript	upstream_gene_variant	-	-	-	-	-	rs76496156	DISTANCE=3277;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs76496156	22:19979039	T	ENSG00000099889	ENST00000401994	Transcript	missense_variant	1249	1249	417	V/I	Gtc/Atc	rs76496156	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;SIFT=tolerated(0.43);PolyPhen=probably_damaging(0.994);EXON=5/17;DOMAINS=PROSITE_profiles:PS50176,Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.1249G>A;HGVSp=ENSP00000384341.1:p.Val417Ile;GMAF=T:0.0041;AFR_MAF=T:0.02;AA_MAF=T:0.022242;EA_MAF=T:0.000116
rs114131171	22:19979765	A	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	1666	1374	458	N	aaC/aaT	rs114131171	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=6/20;DOMAINS=Pfam_domain:PF00514,PROSITE_profiles:PS50176,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.1374C>T;HGVSp=ENST00000263207.5:c.1374C>T(p.%3D);GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	1185	1185	395	N	aaC/aaT	rs114131171	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=4/16;DOMAINS=Pfam_domain:PF00514,PROSITE_profiles:PS50176,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.1185C>T;HGVSp=ENST00000406522.3:c.1185C>T(p.%3D);GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000487793	Transcript	downstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=1387;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	1374	1374	458	N	aaC/aaT	rs114131171	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=4/16;DOMAINS=Pfam_domain:PF00514,PROSITE_profiles:PS50176,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.1374C>T;HGVSp=ENST00000406259.1:c.1374C>T(p.%3D);GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=349;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=1780;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000492625	Transcript	downstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=1617;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000473551	Transcript	downstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=232;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=2226;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000480792	Transcript	upstream_gene_variant	-	-	-	-	-	rs114131171	DISTANCE=4003;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0000
rs114131171	22:19979765	A	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	1185	1185	395	N	aaC/aaT	rs114131171	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=4/17;DOMAINS=Pfam_domain:PF00514,PROSITE_profiles:PS50176,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.1185C>T;HGVSp=ENST00000401994.3:c.1185C>T(p.%3D);GMAF=A:0.0000
rs114932611	22:19979849	A	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	1582	1290	430	G	ggC/ggT	rs114932611	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=6/20;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.1290C>T;HGVSp=ENST00000263207.5:c.1290C>T(p.%3D)
rs114932611	22:19979849	A	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	1101	1101	367	G	ggC/ggT	rs114932611	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=4/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.1101C>T;HGVSp=ENST00000406522.3:c.1101C>T(p.%3D)
rs114932611	22:19979849	A	ENSG00000099889	ENST00000487793	Transcript	downstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=1303;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2
rs114932611	22:19979849	A	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	1290	1290	430	G	ggC/ggT	rs114932611	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=4/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.1290C>T;HGVSp=ENST00000406259.1:c.1290C>T(p.%3D)
rs114932611	22:19979849	A	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=433;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2
rs114932611	22:19979849	A	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=1696;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3
rs114932611	22:19979849	A	ENSG00000099889	ENST00000492625	Transcript	downstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=1533;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3
rs114932611	22:19979849	A	ENSG00000099889	ENST00000473551	Transcript	downstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=148;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2
rs114932611	22:19979849	A	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=2142;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3
rs114932611	22:19979849	A	ENSG00000099889	ENST00000480792	Transcript	upstream_gene_variant	-	-	-	-	-	rs114932611	DISTANCE=4087;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3
rs114932611	22:19979849	A	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	1101	1101	367	G	ggC/ggT	rs114932611	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=4/17;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.1101C>T;HGVSp=ENST00000401994.3:c.1101C>T(p.%3D)
rs74544696	22:19979957	G	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	1474	1182	394	R	cgG/cgC	rs74544696	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=6/20;DOMAINS=Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.1182G>C;HGVSp=ENST00000263207.5:c.1182G>C(p.%3D);GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	993	993	331	R	cgG/cgC	rs74544696	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=4/16;DOMAINS=Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.993G>C;HGVSp=ENST00000406522.3:c.993G>C(p.%3D);GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000487793	Transcript	downstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=1195;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	1182	1182	394	R	cgG/cgC	rs74544696	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=4/16;DOMAINS=Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.1182G>C;HGVSp=ENST00000406259.1:c.1182G>C(p.%3D);GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=541;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=1588;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000492625	Transcript	downstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=1425;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000473551	Transcript	downstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=40;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=2034;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000480792	Transcript	upstream_gene_variant	-	-	-	-	-	rs74544696	DISTANCE=4195;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs74544696	22:19979957	G	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	993	993	331	R	cgG/cgC	rs74544696	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=4/17;DOMAINS=Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.993G>C;HGVSp=ENST00000401994.3:c.993G>C(p.%3D);GMAF=G:0.0285;AFR_MAF=G:0.02;AMR_MAF=G:0.03;ASN_MAF=G:0.05;EUR_MAF=G:0.01;AA_MAF=G:0.027281;EA_MAF=G:0.015534
rs1058399	22:19980020	A	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	1411	1119	373	P	ccC/ccT	rs1058399	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=6/20;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.1119C>T;HGVSp=ENST00000263207.5:c.1119C>T(p.%3D);GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	930	930	310	P	ccC/ccT	rs1058399	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=4/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.930C>T;HGVSp=ENST00000406522.3:c.930C>T(p.%3D);GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000487793	Transcript	downstream_gene_variant	-	-	-	-	-	rs1058399	DISTANCE=1132;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	1119	1119	373	P	ccC/ccT	rs1058399	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=4/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.1119C>T;HGVSp=ENST00000406259.1:c.1119C>T(p.%3D);GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs1058399	DISTANCE=604;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs1058399	DISTANCE=1525;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000492625	Transcript	downstream_gene_variant	-	-	-	-	-	rs1058399	DISTANCE=1362;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2085	-	-	-	-	rs1058399	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.2085C>T;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs1058399	DISTANCE=1971;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000480792	Transcript	upstream_gene_variant	-	-	-	-	-	rs1058399	DISTANCE=4258;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs1058399	22:19980020	A	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	930	930	310	P	ccC/ccT	rs1058399	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=4/17;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.930C>T;HGVSp=ENST00000401994.3:c.930C>T(p.%3D);GMAF=A:0.0496;AFR_MAF=A:0.21;AMR_MAF=A:0.02;AA_MAF=A:0.183241;EA_MAF=A:0.001053
rs61736862	22:19980044	A	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	1387	1095	365	A	gcC/gcT	rs61736862	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=6/20;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000263207.5:c.1095C>T;HGVSp=ENST00000263207.5:c.1095C>T(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	906	906	302	A	gcC/gcT	rs61736862	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=4/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406522.3:c.906C>T;HGVSp=ENST00000406522.3:c.906C>T(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000487793	Transcript	downstream_gene_variant	-	-	-	-	-	rs61736862	DISTANCE=1108;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	1095	1095	365	A	gcC/gcT	rs61736862	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=4/16;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000406259.1:c.1095C>T;HGVSp=ENST00000406259.1:c.1095C>T(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs61736862	DISTANCE=628;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs61736862	DISTANCE=1501;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000492625	Transcript	downstream_gene_variant	-	-	-	-	-	rs61736862	DISTANCE=1338;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2061	-	-	-	-	rs61736862	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.2061C>T;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs61736862	DISTANCE=1947;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000480792	Transcript	upstream_gene_variant	-	-	-	-	-	rs61736862	DISTANCE=4282;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs61736862	22:19980044	A	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	906	906	302	A	gcC/gcT	rs61736862	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=4/17;DOMAINS=Superfamily_domains:SSF48371;HGVSc=ENST00000401994.3:c.906C>T;HGVSp=ENST00000401994.3:c.906C>T(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AMR_MAF=A:0.01;AA_MAF=A:0.060767;EA_MAF=A:0.000352
rs116398106	22:19981410	A	ENSG00000099889	ENST00000263207	Transcript	missense_variant	989	697	233	R/W	Cgg/Tgg	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);EXON=5/20;HGVSc=ENST00000263207.5:c.697C>T;HGVSp=ENSP00000263207.3:p.Arg233Trp;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000406522	Transcript	missense_variant	508	508	170	R/W	Cgg/Tgg	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);EXON=3/16;HGVSc=ENST00000406522.3:c.508C>T;HGVSp=ENSP00000384732.1:p.Arg170Trp;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000487793	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	605	-	-	-	-	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000487793.3:n.605C>T;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000406259	Transcript	missense_variant	697	697	233	R/W	Cgg/Tgg	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=deleterious(0);PolyPhen=probably_damaging(0.967);EXON=3/16;HGVSc=ENST00000406259.1:c.697C>T;HGVSp=ENSP00000385444.1:p.Arg233Trp;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs116398106	DISTANCE=1994;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs116398106	DISTANCE=135;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	695	-	-	-	-	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.695C>T;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000492625	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	603	-	-	-	-	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000492625.3:n.603C>T;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs116398106	DISTANCE=581;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	ENSG00000099889	ENST00000401994	Transcript	missense_variant	508	508	170	R/W	Cgg/Tgg	rs116398106	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);EXON=3/17;HGVSc=ENST00000401994.3:c.508C>T;HGVSp=ENSP00000384341.1:p.Arg170Trp;AA_MAF=A:0.004511;EA_MAF=A:0
rs116398106	22:19981410	A	-	ENSR00000291443	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs116398106	BIOTYPE=CTCF_binding_site;AA_MAF=A:0.004511;EA_MAF=A:0
rs2073748	22:19981448	A	ENSG00000099889	ENST00000263207	Transcript	missense_variant	951	659	220	P/L	cCa/cTa	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=tolerated(0.06);PolyPhen=benign(0.001);EXON=5/20;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000263207.5:c.659C>T;HGVSp=ENSP00000263207.3:p.Pro220Leu;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000406522	Transcript	missense_variant	470	470	157	P/L	cCa/cTa	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;SIFT=tolerated(0.1);PolyPhen=benign(0.001);EXON=3/16;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000406522.3:c.470C>T;HGVSp=ENSP00000384732.1:p.Pro157Leu;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000487793	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	567	-	-	-	-	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000487793.3:n.567C>T;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000406259	Transcript	missense_variant	659	659	220	P/L	cCa/cTa	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=tolerated(0.1);PolyPhen=benign(0.001);EXON=3/16;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000406259.1:c.659C>T;HGVSp=ENSP00000385444.1:p.Pro220Leu;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs2073748,COSM1751722	DISTANCE=2032;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs2073748,COSM1751722	DISTANCE=97;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	657	-	-	-	-	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.657C>T;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000492625	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	565	-	-	-	-	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000492625.3:n.565C>T;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs2073748,COSM1751722	DISTANCE=543;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	ENSG00000099889	ENST00000401994	Transcript	missense_variant	470	470	157	P/L	cCa/cTa	rs2073748,COSM1751722	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;SIFT=tolerated(0.1);PolyPhen=benign(0.003);EXON=3/17;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000401994.3:c.470C>T;HGVSp=ENSP00000384341.1:p.Pro157Leu;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs2073748	22:19981448	A	-	ENSR00000291443	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2073748,COSM1751722	BIOTYPE=CTCF_binding_site;GMAF=A:0.3255;AFR_MAF=A:0.38;AMR_MAF=A:0.34;ASN_MAF=A:0.23;EUR_MAF=A:0.35;AA_MAF=A:0.350146;EA_MAF=A:0.341268;SOMATIC=0,1
rs80068543	22:19981520	T	ENSG00000099889	ENST00000263207	Transcript	missense_variant	879	587	196	R/Q	cGg/cAg	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=tolerated(0.46);PolyPhen=benign(0.002);EXON=5/20;HGVSc=ENST00000263207.5:c.587G>A;HGVSp=ENSP00000263207.3:p.Arg196Gln;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000406522	Transcript	missense_variant	398	398	133	R/Q	cGg/cAg	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;SIFT=tolerated(0.41);PolyPhen=benign(0.003);EXON=3/16;HGVSc=ENST00000406522.3:c.398G>A;HGVSp=ENSP00000384732.1:p.Arg133Gln;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000487793	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	495	-	-	-	-	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000487793.3:n.495G>A;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000406259	Transcript	missense_variant	587	587	196	R/Q	cGg/cAg	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=tolerated(0.47);PolyPhen=benign(0.002);EXON=3/16;HGVSc=ENST00000406259.1:c.587G>A;HGVSp=ENSP00000385444.1:p.Arg196Gln;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs80068543	DISTANCE=2104;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000462319	Transcript	downstream_gene_variant	-	-	-	-	-	rs80068543	DISTANCE=25;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	585	-	-	-	-	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.585G>A;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000492625	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	493	-	-	-	-	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000492625.3:n.493G>A;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs80068543	DISTANCE=471;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	ENSG00000099889	ENST00000401994	Transcript	missense_variant	398	398	133	R/Q	cGg/cAg	rs80068543	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;SIFT=tolerated(0.41);PolyPhen=benign(0.006);EXON=3/17;HGVSc=ENST00000401994.3:c.398G>A;HGVSp=ENSP00000384341.1:p.Arg133Gln;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs80068543	22:19981520	T	-	ENSR00000291443	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs80068543	BIOTYPE=CTCF_binding_site;GMAF=T:0.0312;AFR_MAF=T:0.04;AMR_MAF=T:0.03;ASN_MAF=T:0.05;EUR_MAF=T:0.01;AA_MAF=T:0.026858;EA_MAF=T:0.015645
rs2073747	22:19981552	G	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	847	555	185	S	agT/agC	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=5/20;HGVSc=ENST00000263207.5:c.555T>C;HGVSp=ENST00000263207.5:c.555T>C(p.%3D);GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	366	366	122	S	agT/agC	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=3/16;HGVSc=ENST00000406522.3:c.366T>C;HGVSp=ENST00000406522.3:c.366T>C(p.%3D);GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000487793	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	463	-	-	-	-	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000487793.3:n.463T>C;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	555	555	185	S	agT/agC	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=3/16;HGVSc=ENST00000406259.1:c.555T>C;HGVSp=ENST00000406259.1:c.555T>C(p.%3D);GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs2073747,COSM3759040	DISTANCE=2136;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000462319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	426	-	-	-	-	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=3/3;HGVSc=ENST00000462319.1:n.426T>C;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	553	-	-	-	-	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.553T>C;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000492625	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	461	-	-	-	-	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000492625.3:n.461T>C;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs2073747,COSM3759040	DISTANCE=439;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	366	366	122	S	agT/agC	rs2073747,COSM3759040	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=3/17;HGVSc=ENST00000401994.3:c.366T>C;HGVSp=ENST00000401994.3:c.366T>C(p.%3D);GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2073747	22:19981552	G	-	ENSR00000291443	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2073747,COSM3759040	BIOTYPE=CTCF_binding_site;GMAF=A:0.2837;AFR_MAF=G:0.78;AMR_MAF=G:0.68;ASN_MAF=G:0.61;EUR_MAF=G:0.77;AA_MAF=G:0.825674;EA_MAF=G:0.799071;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000263207	Transcript	missense_variant	816	524	175	V/A	gTg/gCg	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=tolerated(0.42);PolyPhen=benign(0);EXON=5/20;HGVSc=ENST00000263207.5:c.524T>C;HGVSp=ENSP00000263207.3:p.Val175Ala;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000406522	Transcript	missense_variant	335	335	112	V/A	gTg/gCg	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;SIFT=tolerated(0.41);PolyPhen=benign(0);EXON=3/16;HGVSc=ENST00000406522.3:c.335T>C;HGVSp=ENSP00000384732.1:p.Val112Ala;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000487793	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	432	-	-	-	-	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;EXON=3/3;HGVSc=ENST00000487793.3:n.432T>C;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000406259	Transcript	missense_variant	524	524	175	V/A	gTg/gCg	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=tolerated(0.47);PolyPhen=benign(0.001);EXON=3/16;HGVSc=ENST00000406259.1:c.524T>C;HGVSp=ENSP00000385444.1:p.Val175Ala;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs2240717,COSM3759041	DISTANCE=2167;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000462319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	395	-	-	-	-	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=3/3;HGVSc=ENST00000462319.1:n.395T>C;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	522	-	-	-	-	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=3/3;HGVSc=ENST00000473551.3:n.522T>C;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000492625	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	430	-	-	-	-	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=4/4;HGVSc=ENST00000492625.3:n.430T>C;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs2240717,COSM3759041	DISTANCE=408;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	ENSG00000099889	ENST00000401994	Transcript	missense_variant	335	335	112	V/A	gTg/gCg	rs2240717,COSM3759041	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;SIFT=tolerated(0.4);PolyPhen=benign(0.001);EXON=3/17;HGVSc=ENST00000401994.3:c.335T>C;HGVSp=ENSP00000384341.1:p.Val112Ala;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs2240717	22:19981583	G	-	ENSR00000291443	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2240717,COSM3759041	BIOTYPE=CTCF_binding_site;GMAF=G:0.3751;AFR_MAF=G:0.58;AMR_MAF=G:0.36;ASN_MAF=G:0.23;EUR_MAF=G:0.35;AA_MAF=G:0.533050;EA_MAF=G:0.340216;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000263207	Transcript	synonymous_variant	622	330	110	V	gtC/gtA	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;EXON=4/20;HGVSc=ENST00000263207.5:c.330C>A;HGVSp=ENST00000263207.5:c.330C>A(p.%3D);GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000406522	Transcript	synonymous_variant	141	141	47	V	gtC/gtA	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;EXON=2/16;HGVSc=ENST00000406522.3:c.141C>A;HGVSp=ENST00000406522.3:c.141C>A(p.%3D);GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000487793	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	238	-	-	-	-	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;EXON=2/3;HGVSc=ENST00000487793.3:n.238C>A;GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000406259	Transcript	synonymous_variant	330	330	110	V	gtC/gtA	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;EXON=2/16;HGVSc=ENST00000406259.1:c.330C>A;HGVSp=ENST00000406259.1:c.330C>A(p.%3D);GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000495096	Transcript	upstream_gene_variant	-	-	-	-	-	rs33992092,COSM3693941	DISTANCE=2556;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000462319	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	201	-	-	-	-	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=2/3;HGVSc=ENST00000462319.1:n.201C>A;GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	328	-	-	-	-	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=2/3;HGVSc=ENST00000473551.3:n.328C>A;GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000492625	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	236	-	-	-	-	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;EXON=3/4;HGVSc=ENST00000492625.3:n.236C>A;GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000467828	Transcript	downstream_gene_variant	-	-	-	-	-	rs33992092,COSM3693941	DISTANCE=19;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs33992092	22:19981972	T	ENSG00000099889	ENST00000401994	Transcript	synonymous_variant	141	141	47	V	gtC/gtA	rs33992092,COSM3693941	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;EXON=2/17;HGVSc=ENST00000401994.3:c.141C>A;HGVSp=ENST00000401994.3:c.141C>A(p.%3D);GMAF=T:0.0225;AFR_MAF=T:0.08;AMR_MAF=T:0.01;EUR_MAF=T:0.0040;AA_MAF=T:0.054244;EA_MAF=T:0.004419;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000263207	Transcript	missense_variant	392	100	34	R/W	Cgg/Tgg	rs116782322,COSM3693942	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13771.1;ENSP=ENSP00000263207;SWISSPROT=O00192;UNIPARC=UPI00001260C8;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995);EXON=3/20;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000263207.5:c.100C>T;HGVSp=ENSP00000263207.3:p.Arg34Trp;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000406522	Transcript	upstream_gene_variant	-	-	-	-	-	rs116782322,COSM3693942	DISTANCE=3602;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384732;TREMBL=C9JJX6;UNIPARC=UPI0001611032;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000492625	Transcript	upstream_gene_variant	-	-	-	-	-	rs116782322,COSM3693942	DISTANCE=3540;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000473551	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	98	-	-	-	-	rs116782322,COSM3693942	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=retained_intron;TSL=2;EXON=1/3;HGVSc=ENST00000473551.3:n.98C>T;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000467828	Transcript	intron_variant,non_coding_transcript_variant	-	-	-	-	-	rs116782322,COSM3693942	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=3;INTRON=1/1;HGVSc=ENST00000467828.1:n.158-8604C>T;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000487793	Transcript	upstream_gene_variant	-	-	-	-	-	rs116782322,COSM3693942	DISTANCE=3505;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=processed_transcript;TSL=2;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000401994	Transcript	upstream_gene_variant	-	-	-	-	-	rs116782322,COSM3693942	DISTANCE=3602;STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384341;SWISSPROT=O00192;UNIPARC=UPI000002A403;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs116782322	22:19990695	A	ENSG00000099889	ENST00000406259	Transcript	missense_variant	100	100	34	R/W	Cgg/Tgg	rs116782322,COSM3693942	STRAND=-1;SYMBOL=ARVCF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:728;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000385444;TREMBL=E9PDC3;UNIPARC=UPI0001611033;SIFT=deleterious(0);PolyPhen=probably_damaging(0.983);EXON=1/16;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000406259.1:c.100C>T;HGVSp=ENSP00000385444.1:p.Arg34Trp;GMAF=A:0.0060;AFR_MAF=A:0.03;AA_MAF=A:0.015753;EA_MAF=A:0.000117;SOMATIC=0,1
rs114537607	22:21643905	T	ENSG00000128228	ENST00000466935	Transcript	downstream_gene_variant	-	-	-	-	-	rs114537607	DISTANCE=613;STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0005;AFR_MAF=T:0.0020
rs114537607	22:21643905	T	ENSG00000273342	ENST00000609038	Transcript	downstream_gene_variant	-	-	-	-	-	rs114537607	DISTANCE=2621;STRAND=1;SYMBOL=KB-1440D3.14;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=lincRNA;CANONICAL=YES;GMAF=T:0.0005;AFR_MAF=T:0.0020
rs114537607	22:21643905	T	ENSG00000128228	ENST00000248958	Transcript	synonymous_variant	472	396	132	A	gcC/gcT	rs114537607	STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13792.1;ENSP=ENSP00000248958;SWISSPROT=Q9HCN8;UNIPARC=UPI0000048F31;EXON=3/3;DOMAINS=Pfam_domain:PF02815,PROSITE_profiles:PS50919,SMART_domains:SM00472,Superfamily_domains:SSF82109;HGVSc=ENST00000248958.4:c.396C>T;HGVSp=ENST00000248958.4:c.396C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020
rs115706909	22:21643926	T	ENSG00000128228	ENST00000466935	Transcript	downstream_gene_variant	-	-	-	-	-	rs115706909	DISTANCE=634;STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.003404;EA_MAF=T:0
rs115706909	22:21643926	T	ENSG00000273342	ENST00000609038	Transcript	downstream_gene_variant	-	-	-	-	-	rs115706909	DISTANCE=2642;STRAND=1;SYMBOL=KB-1440D3.14;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=lincRNA;CANONICAL=YES;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.003404;EA_MAF=T:0
rs115706909	22:21643926	T	ENSG00000128228	ENST00000248958	Transcript	synonymous_variant	493	417	139	G	ggC/ggT	rs115706909	STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13792.1;ENSP=ENSP00000248958;SWISSPROT=Q9HCN8;UNIPARC=UPI0000048F31;EXON=3/3;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF02815,PROSITE_profiles:PS50919,SMART_domains:SM00472,Superfamily_domains:SSF82109;HGVSc=ENST00000248958.4:c.417C>T;HGVSp=ENST00000248958.4:c.417C>T(p.%3D);GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.003404;EA_MAF=T:0
rs61739341	22:21643930	A	ENSG00000128228	ENST00000466935	Transcript	downstream_gene_variant	-	-	-	-	-	rs61739341	DISTANCE=638;STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.014753;EA_MAF=A:0.000465
rs61739341	22:21643930	A	ENSG00000273342	ENST00000609038	Transcript	downstream_gene_variant	-	-	-	-	-	rs61739341	DISTANCE=2646;STRAND=1;SYMBOL=KB-1440D3.14;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=lincRNA;CANONICAL=YES;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.014753;EA_MAF=A:0.000465
rs61739341	22:21643930	A	ENSG00000128228	ENST00000248958	Transcript	missense_variant	497	421	141	D/N	Gac/Aac	rs61739341	STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13792.1;ENSP=ENSP00000248958;SWISSPROT=Q9HCN8;UNIPARC=UPI0000048F31;SIFT=tolerated(0.33);PolyPhen=possibly_damaging(0.746);EXON=3/3;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF02815,PROSITE_profiles:PS50919,SMART_domains:SM00472,Superfamily_domains:SSF82109;HGVSc=ENST00000248958.4:c.421G>A;HGVSp=ENSP00000248958.4:p.Asp141Asn;GMAF=A:0.0051;AFR_MAF=A:0.02;AA_MAF=A:0.014753;EA_MAF=A:0.000465
rs73166641	22:21643991	A	ENSG00000128228	ENST00000466935	Transcript	downstream_gene_variant	-	-	-	-	-	rs73166641	DISTANCE=699;STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0087;AFR_MAF=A:0.0041;AMR_MAF=A:0.02;EUR_MAF=A:0.01;AA_MAF=A:0.005674;EA_MAF=A:0.014767
rs73166641	22:21643991	A	ENSG00000273342	ENST00000609038	Transcript	downstream_gene_variant	-	-	-	-	-	rs73166641	DISTANCE=2707;STRAND=1;SYMBOL=KB-1440D3.14;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=lincRNA;CANONICAL=YES;GMAF=A:0.0087;AFR_MAF=A:0.0041;AMR_MAF=A:0.02;EUR_MAF=A:0.01;AA_MAF=A:0.005674;EA_MAF=A:0.014767
rs73166641	22:21643991	A	ENSG00000128228	ENST00000248958	Transcript	missense_variant	558	482	161	R/H	cGc/cAc	rs73166641	STRAND=1;SYMBOL=SDF2L1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10676;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13792.1;ENSP=ENSP00000248958;SWISSPROT=Q9HCN8;UNIPARC=UPI0000048F31;SIFT=deleterious(0);PolyPhen=probably_damaging(1);EXON=3/3;DOMAINS=Pfam_domain:PF02815,PROSITE_profiles:PS50919,SMART_domains:SM00472,Superfamily_domains:SSF82109;HGVSc=ENST00000248958.4:c.482G>A;HGVSp=ENSP00000248958.4:p.Arg161His;GMAF=A:0.0087;AFR_MAF=A:0.0041;AMR_MAF=A:0.02;EUR_MAF=A:0.01;AA_MAF=A:0.005674;EA_MAF=A:0.014767
rs115446312	22:21962760	A	ENSG00000100038	ENST00000357179	Transcript	synonymous_variant	1523	1338	446	T	acC/acT	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=12/18;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.1338C>T;HGVSp=ENST00000357179.7:c.1338C>T(p.%3D);GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000100038	ENST00000398793	Transcript	synonymous_variant	1773	1338	446	T	acC/acT	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=12/18;DOMAINS=Pfam_domain:PF01131,Superfamily_domains:SSF56712,SMART_domains:SM00437;HGVSc=ENST00000398793.4:c.1338C>T;HGVSp=ENST00000398793.4:c.1338C>T(p.%3D);GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000100038	ENST00000457179	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1579	-	-	-	-	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=13/18;HGVSc=ENST00000457179.3:c.*1030C>T;GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000100038	ENST00000457270	Transcript	synonymous_variant	722	723	241	T	acC/acT	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408282;TREMBL=B3KU89;UNIPARC=UPI000161100C;EXON=6/11;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000457270.3:c.722C>T;HGVSp=ENST00000457270.3:c.722C>T(p.%3D);GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000100038	ENST00000436282	Transcript	3_prime_UTR_variant,NMD_transcript_variant	661	-	-	-	-	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416451;TREMBL=H7C4B0;UNIPARC=UPI000161100B;EXON=5/10;HGVSc=ENST00000436282.1:c.*154C>T;GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000100038	ENST00000470338	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	136	-	-	-	-	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=5;EXON=1/2;HGVSc=ENST00000470338.1:n.136C>T;GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000100038	ENST00000444502	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1579	-	-	-	-	rs115446312	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=13/17;HGVSc=ENST00000444502.3:c.*1030C>T;GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs115446312	22:21962760	A	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	22980	-	-	-	-	rs115446312	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.22980G>A;GMAF=A:0.0055;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.019519;EA_MAF=A:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000357179	Transcript	missense_variant	1501	1316	439	L/P	cTc/cCc	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;SIFT=tolerated(0.28);PolyPhen=benign(0.012);EXON=12/18;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.1316T>C;HGVSp=ENSP00000349705.5:p.Leu439Pro;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000398793	Transcript	missense_variant	1751	1316	439	L/P	cTc/cCc	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;SIFT=tolerated(0.28);PolyPhen=benign(0.012);EXON=12/18;DOMAINS=Pfam_domain:PF01131,Superfamily_domains:SSF56712,SMART_domains:SM00437;HGVSc=ENST00000398793.4:c.1316T>C;HGVSp=ENSP00000381773.2:p.Leu439Pro;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000457179	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1557	-	-	-	-	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=13/18;HGVSc=ENST00000457179.3:c.*1008T>C;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000457270	Transcript	missense_variant	700	701	234	L/P	cTc/cCc	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408282;TREMBL=B3KU89;UNIPARC=UPI000161100C;SIFT=tolerated(0.28);PolyPhen=benign(0.003);EXON=6/11;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000457270.3:c.700T>C;HGVSp=ENSP00000408282.1:p.Leu234Pro;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000436282	Transcript	3_prime_UTR_variant,NMD_transcript_variant	639	-	-	-	-	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416451;TREMBL=H7C4B0;UNIPARC=UPI000161100B;EXON=5/10;HGVSc=ENST00000436282.1:c.*132T>C;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000470338	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	114	-	-	-	-	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=5;EXON=1/2;HGVSc=ENST00000470338.1:n.114T>C;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000100038	ENST00000444502	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1557	-	-	-	-	rs114712273	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=13/17;HGVSc=ENST00000444502.3:c.*1008T>C;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs114712273	22:21962782	G	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	23002	-	-	-	-	rs114712273	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.23002A>G;GMAF=G:0.0014;AFR_MAF=G:0.01;AA_MAF=G:0.001135;EA_MAF=G:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000357179	Transcript	synonymous_variant	1340	1155	385	G	ggC/ggT	rs115663049	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=11/18;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.1155C>T;HGVSp=ENST00000357179.7:c.1155C>T(p.%3D);GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000398793	Transcript	synonymous_variant	1590	1155	385	G	ggC/ggT	rs115663049	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=11/18;DOMAINS=Pfam_domain:PF01131,Superfamily_domains:SSF56712,SMART_domains:SM00437;HGVSc=ENST00000398793.4:c.1155C>T;HGVSp=ENST00000398793.4:c.1155C>T(p.%3D);GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000457179	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1396	-	-	-	-	rs115663049	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=12/18;HGVSc=ENST00000457179.3:c.*847C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000457270	Transcript	synonymous_variant	539	540	180	G	ggC/ggT	rs115663049	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408282;TREMBL=B3KU89;UNIPARC=UPI000161100C;EXON=5/11;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000457270.3:c.539C>T;HGVSp=ENST00000457270.3:c.539C>T(p.%3D);GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000436282	Transcript	synonymous_variant,NMD_transcript_variant	351	351	117	G	ggC/ggT	rs115663049	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416451;TREMBL=H7C4B0;UNIPARC=UPI000161100B;EXON=4/10;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000436282.1:c.351C>T;HGVSp=ENST00000436282.1:c.351C>T(p.%3D);GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000470338	Transcript	upstream_gene_variant	-	-	-	-	-	rs115663049	DISTANCE=1077;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=5;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000424393	Transcript	downstream_gene_variant	-	-	-	-	-	rs115663049	DISTANCE=4647;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390977;TREMBL=C9JT00,C9JEI7,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611012;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000100038	ENST00000444502	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1396	-	-	-	-	rs115663049	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=12/17;HGVSc=ENST00000444502.3:c.*847C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs115663049	22:21963972	A	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	24192	-	-	-	-	rs115663049	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.24192G>A;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.004539;EA_MAF=A:0
rs9610728	22:21964166	T	ENSG00000100038	ENST00000357179	Transcript	missense_variant	1278	1093	365	D/N	Gac/Aac	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;SIFT=tolerated(0.36);PolyPhen=benign(0.003);EXON=10/18;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.1093G>A;HGVSp=ENSP00000349705.5:p.Asp365Asn;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000398793	Transcript	missense_variant	1528	1093	365	D/N	Gac/Aac	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;SIFT=tolerated(0.36);PolyPhen=benign(0.003);EXON=10/18;DOMAINS=Pfam_domain:PF01131,Superfamily_domains:SSF56712,SMART_domains:SM00437;HGVSc=ENST00000398793.4:c.1093G>A;HGVSp=ENSP00000381773.2:p.Asp365Asn;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000457179	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1334	-	-	-	-	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=11/18;HGVSc=ENST00000457179.3:c.*785G>A;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000457270	Transcript	missense_variant	477	478	160	D/N	Gac/Aac	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408282;TREMBL=B3KU89;UNIPARC=UPI000161100C;SIFT=tolerated(0.37);PolyPhen=benign(0.008);EXON=4/11;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000457270.3:c.477G>A;HGVSp=ENSP00000408282.1:p.Asp160Asn;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000436282	Transcript	missense_variant,NMD_transcript_variant	289	289	97	D/N	Gac/Aac	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416451;TREMBL=H7C4B0;UNIPARC=UPI000161100B;SIFT=tolerated(0.22);PolyPhen=benign(0.013);EXON=3/10;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000436282.1:c.289G>A;HGVSp=ENSP00000416451.1:p.Asp97Asn;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000470338	Transcript	upstream_gene_variant	-	-	-	-	-	rs9610728,COSM3766689,COSM3766688,COSM3766690	DISTANCE=1271;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=5;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000424393	Transcript	downstream_gene_variant	-	-	-	-	-	rs9610728,COSM3766689,COSM3766688,COSM3766690	DISTANCE=4453;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390977;TREMBL=C9JT00,C9JEI7,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611012;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000100038	ENST00000444502	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1334	-	-	-	-	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=11/17;HGVSc=ENST00000444502.3:c.*785G>A;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610728	22:21964166	T	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	24386	-	-	-	-	rs9610728,COSM3766689,COSM3766688,COSM3766690	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.24386C>T;GMAF=T:0.1070;AFR_MAF=T:0.13;AMR_MAF=T:0.10;ASN_MAF=T:0.06;EUR_MAF=T:0.13;AA_MAF=T:0.115751;EA_MAF=T:0.123256;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000357179	Transcript	synonymous_variant	1145	960	320	H	caC/caT	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=10/18;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.960C>T;HGVSp=ENST00000357179.7:c.960C>T(p.%3D);GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000398793	Transcript	synonymous_variant	1395	960	320	H	caC/caT	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=10/18;DOMAINS=Pfam_domain:PF01131,Superfamily_domains:SSF56712,SMART_domains:SM00437;HGVSc=ENST00000398793.4:c.960C>T;HGVSp=ENST00000398793.4:c.960C>T(p.%3D);GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000457179	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1201	-	-	-	-	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=11/18;HGVSc=ENST00000457179.3:c.*652C>T;GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000457270	Transcript	synonymous_variant	344	345	115	H	caC/caT	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408282;TREMBL=B3KU89;UNIPARC=UPI000161100C;EXON=4/11;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000457270.3:c.344C>T;HGVSp=ENST00000457270.3:c.344C>T(p.%3D);GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000436282	Transcript	synonymous_variant,NMD_transcript_variant	156	156	52	H	caC/caT	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416451;TREMBL=H7C4B0;UNIPARC=UPI000161100B;EXON=3/10;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712;HGVSc=ENST00000436282.1:c.156C>T;HGVSp=ENST00000436282.1:c.156C>T(p.%3D);GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000470338	Transcript	upstream_gene_variant	-	-	-	-	-	rs9610729,COSM3766692,COSM3766691,COSM3766693	DISTANCE=1404;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=5;GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000424393	Transcript	downstream_gene_variant	-	-	-	-	-	rs9610729,COSM3766692,COSM3766691,COSM3766693	DISTANCE=4320;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390977;TREMBL=C9JT00,C9JEI7,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611012;GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000100038	ENST00000444502	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1201	-	-	-	-	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=11/17;HGVSc=ENST00000444502.3:c.*652C>T;GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs9610729	22:21964299	A	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	24519	-	-	-	-	rs9610729,COSM3766692,COSM3766691,COSM3766693	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.24519G>A;GMAF=A:0.0955;AFR_MAF=A:0.09;AMR_MAF=A:0.09;ASN_MAF=A:0.06;EUR_MAF=A:0.13;AA_MAF=A:0.075352;EA_MAF=A:0.122907;SOMATIC=0,1,1,1
rs116048331	22:21970233	T	ENSG00000100038	ENST00000449704	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=4146;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000404600;TREMBL=C9JEQ1,C9JTQ7,C9JHR0;UNIPARC=UPI0001611011;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000437103	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=4200;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000387554;TREMBL=C9JTQ7;UNIPARC=UPI0001611010;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000457179	Transcript	3_prime_UTR_variant,NMD_transcript_variant	799	-	-	-	-	rs116048331	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=7/18;HGVSc=ENST00000457179.3:c.*250G>A;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000436282	Transcript	upstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=2583;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416451;TREMBL=H7C4B0;UNIPARC=UPI000161100B;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000437929	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=1662;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000402622;TREMBL=C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611013;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000424393	Transcript	synonymous_variant	644	558	186	L	ctG/ctA	rs116048331	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390977;TREMBL=C9JT00,C9JEI7,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611012;EXON=6/7;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00436,Superfamily_domains:SSF56712;HGVSc=ENST00000424393.3:c.558G>A;HGVSp=ENST00000424393.3:c.558G>A(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000442653	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=4186;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000390209;TREMBL=C9JTQ7,C9JHR0;UNIPARC=UPI0001611014;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000430142	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=1664;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000414538;TREMBL=C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000161100D;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000444502	Transcript	3_prime_UTR_variant,NMD_transcript_variant	799	-	-	-	-	rs116048331	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=7/17;HGVSc=ENST00000444502.3:c.*250G>A;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000357179	Transcript	synonymous_variant	743	558	186	L	ctG/ctA	rs116048331	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=6/18;DOMAINS=Pfam_domain:PF01131,SMART_domains:SM00436,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.558G>A;HGVSp=ENST00000357179.7:c.558G>A(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000487485	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=102;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=3;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000398793	Transcript	synonymous_variant	993	558	186	L	ctG/ctA	rs116048331	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=6/18;DOMAINS=Pfam_domain:PF01131,Superfamily_domains:SSF56712,SMART_domains:SM00436;HGVSc=ENST00000398793.4:c.558G>A;HGVSp=ENST00000398793.4:c.558G>A(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000456075	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=4143;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391857;TREMBL=C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000161100F;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000457270	Transcript	upstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=1493;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408282;TREMBL=B3KU89;UNIPARC=UPI000161100C;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000100038	ENST00000489581	Transcript	downstream_gene_variant	-	-	-	-	-	rs116048331	DISTANCE=1986;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs116048331	22:21970233	T	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	30453	-	-	-	-	rs116048331	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.30453C>T;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs114880937	22:21974379	A	ENSG00000100038	ENST00000434517	Transcript	downstream_gene_variant	-	-	-	-	-	rs114880937	DISTANCE=1267;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390824;UNIPARC=UPI000161100E;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000449704	Transcript	synonymous_variant	543	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000404600;TREMBL=C9JEQ1,C9JTQ7,C9JHR0;UNIPARC=UPI0001611011;EXON=4/4;DOMAINS=Pfam_domain:PF01751,Superfamily_domains:SSF56712;HGVSc=ENST00000449704.3:c.180C>T;HGVSp=ENST00000449704.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000487485	Transcript	upstream_gene_variant	-	-	-	-	-	rs114880937	DISTANCE=2747;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=3;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000357179	Transcript	synonymous_variant	365	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000349705;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=3/18;DOMAINS=Pfam_domain:PF01751,SMART_domains:SM00493,Superfamily_domains:SSF56712;HGVSc=ENST00000357179.7:c.180C>T;HGVSp=ENST00000357179.7:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000437103	Transcript	downstream_gene_variant	-	-	-	-	-	rs114880937	DISTANCE=54;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000387554;TREMBL=C9JTQ7;UNIPARC=UPI0001611010;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000398793	Transcript	synonymous_variant	615	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13797.1;ENSP=ENSP00000381773;SWISSPROT=O95985;TREMBL=C9JT00,C9JEI7,C9JKE2,A0A024R1C2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI00001371A1;EXON=3/18;DOMAINS=Pfam_domain:PF01751,Superfamily_domains:SSF56712,SMART_domains:SM00493;HGVSc=ENST00000398793.4:c.180C>T;HGVSp=ENST00000398793.4:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000456075	Transcript	synonymous_variant	558	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391857;TREMBL=C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000161100F;EXON=5/5;DOMAINS=Pfam_domain:PF01751,Superfamily_domains:SSF56712;HGVSc=ENST00000456075.3:c.180C>T;HGVSp=ENST00000456075.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000457179	Transcript	synonymous_variant,NMD_transcript_variant	339	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000397221;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=3/18;DOMAINS=Pfam_domain:PF01751,SMART_domains:SM00493,Superfamily_domains:SSF56712;HGVSc=ENST00000457179.3:c.180C>T;HGVSp=ENST00000457179.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000437929	Transcript	synonymous_variant	364	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000402622;TREMBL=C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611013;EXON=4/6;DOMAINS=Pfam_domain:PF01751,SMART_domains:SM00493,Superfamily_domains:SSF56712;HGVSc=ENST00000437929.3:c.180C>T;HGVSp=ENST00000437929.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000424393	Transcript	synonymous_variant	266	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390977;TREMBL=C9JT00,C9JEI7,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI0001611012;EXON=3/7;DOMAINS=Pfam_domain:PF01751,SMART_domains:SM00493,Superfamily_domains:SSF56712;HGVSc=ENST00000424393.3:c.180C>T;HGVSp=ENST00000424393.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000442653	Transcript	downstream_gene_variant	-	-	-	-	-	rs114880937	DISTANCE=40;STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000390209;TREMBL=C9JTQ7,C9JHR0;UNIPARC=UPI0001611014;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000430142	Transcript	synonymous_variant	398	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000414538;TREMBL=C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000161100D;EXON=4/6;DOMAINS=Pfam_domain:PF01751,SMART_domains:SM00493,Superfamily_domains:SSF56712;HGVSc=ENST00000430142.3:c.180C>T;HGVSp=ENST00000430142.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000489581	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	267	-	-	-	-	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=retained_intron;TSL=2;EXON=2/3;HGVSc=ENST00000489581.1:n.267C>T;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000100038	ENST00000444502	Transcript	synonymous_variant,NMD_transcript_variant	339	180	60	H	caC/caT	rs114880937	STRAND=-1;SYMBOL=TOP3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11993;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000392480;TREMBL=F2Z2A5,C9JT00,C9JKE2,C9JEQ1,C9J9X4,C9JTQ7,C9JHR0;UNIPARC=UPI000040FDB4;EXON=3/17;DOMAINS=Pfam_domain:PF01751,Superfamily_domains:SSF56712,SMART_domains:SM00493;HGVSc=ENST00000444502.3:c.180C>T;HGVSp=ENST00000444502.3:c.180C>T(p.%3D);AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	ENSG00000224086	ENST00000458178	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	34599	-	-	-	-	rs114880937	STRAND=1;SYMBOL=LL22NC03-86G7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=1;EXON=2/2;HGVSc=ENST00000458178.2:n.34599G>A;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs114880937	22:21974379	A	-	ENSR00000292402	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114880937	BIOTYPE=TF_binding_site;AA_MAF=A:0.002043;EA_MAF=A:0.000116
rs61747143	22:23146672	T	ENSG00000100228	ENST00000341989	Transcript	missense_variant	254	254	85	A/V	gCc/gTc	rs61747143	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000343494;SWISSPROT=O95755;UNIPARC=UPI00003588D3;SIFT=tolerated(0.16);PolyPhen=benign(0.008);EXON=2/10;HGVSc=ENST00000341989.6:c.254C>T;HGVSp=ENSP00000343494.4:p.Ala85Val;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.010894;EA_MAF=T:0
rs61747143	22:23146672	T	ENSG00000100218	ENST00000406876	Transcript	upstream_gene_variant	-	-	-	-	-	rs61747143	DISTANCE=1651;STRAND=-1;SYMBOL=RSPH14;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13437;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000385567;TREMBL=B5MCI8;UNIPARC=UPI0000207313;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.010894;EA_MAF=T:0
rs61747143	22:23146672	T	ENSG00000100228	ENST00000420895	Transcript	upstream_gene_variant	-	-	-	-	-	rs61747143	DISTANCE=3441;STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000397594;UNIPARC=UPI0001611034;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.010894;EA_MAF=T:0
rs61747143	22:23146672	T	ENSG00000100228	ENST00000263116	Transcript	missense_variant	294	254	85	A/V	gCc/gTc	rs61747143	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13805.1;ENSP=ENSP00000263116;SWISSPROT=O95755;UNIPARC=UPI000013D3AA;SIFT=tolerated(0.1);PolyPhen=benign(0.004);EXON=2/11;HGVSc=ENST00000263116.4:c.254C>T;HGVSp=ENSP00000263116.2:p.Ala85Val;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.010894;EA_MAF=T:0
rs61747143	22:23146672	T	ENSG00000100218	ENST00000216036	Transcript	upstream_gene_variant	-	-	-	-	-	rs61747143	DISTANCE=4579;STRAND=-1;SYMBOL=RSPH14;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13437;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13803.1;ENSP=ENSP00000216036;SWISSPROT=Q9UHP6;UNIPARC=UPI000004A0CE;GMAF=T:0.0018;AFR_MAF=T:0.01;AA_MAF=T:0.010894;EA_MAF=T:0
rs114023206	22:23152491	T	ENSG00000100228	ENST00000341989	Transcript	intron_variant	-	-	-	-	-	rs114023206,COSM4102970	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000343494;SWISSPROT=O95755;UNIPARC=UPI00003588D3;INTRON=3/9;HGVSc=ENST00000341989.6:c.360-542C>T;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000908;EA_MAF=T:0;SOMATIC=0,1
rs114023206	22:23152491	T	ENSG00000100228	ENST00000420895	Transcript	synonymous_variant	73	75	25	G	ggC/ggT	rs114023206,COSM4102970	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000397594;UNIPARC=UPI0001611034;EXON=2/4;DOMAINS=Pfam_domain:PF00071,Pfam_domain:PF08477,Pfam_domain:PF00025,Low_complexity_(Seg):Seg,TIGRFAM_domain:TIGR00231,Prints_domain:PR00449,SMART_domains:SM00175,Superfamily_domains:SSF52540;HGVSc=ENST00000420895.1:c.73C>T;HGVSp=ENST00000420895.1:c.73C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000908;EA_MAF=T:0;SOMATIC=0,1
rs114023206	22:23152491	T	ENSG00000100228	ENST00000263116	Transcript	synonymous_variant	430	390	130	G	ggC/ggT	rs114023206,COSM4102970	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13805.1;ENSP=ENSP00000263116;SWISSPROT=O95755;UNIPARC=UPI000013D3AA;EXON=4/11;DOMAINS=Low_complexity_(Seg):Seg,Pfam_domain:PF00071,Pfam_domain:PF08477,Pfam_domain:PF00025,Pfam_domain:PF04670,TIGRFAM_domain:TIGR00231,Prints_domain:PR00449,SMART_domains:SM00177,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540;HGVSc=ENST00000263116.4:c.390C>T;HGVSp=ENST00000263116.4:c.390C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000908;EA_MAF=T:0;SOMATIC=0,1
rs114023206	22:23152491	T	-	ENSR00000292845	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114023206,COSM4102970	BIOTYPE=enhancer;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.000908;EA_MAF=T:0;SOMATIC=0,1
rs115006916	22:23160895	T	ENSG00000100228	ENST00000341989	Transcript	synonymous_variant	768	768	256	A	gcA/gcT	rs115006916	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000343494;SWISSPROT=O95755;UNIPARC=UPI00003588D3;EXON=9/10;DOMAINS=Pfam_domain:PF00071,Pfam_domain:PF00025,Prints_domain:PR00449,TIGRFAM_domain:TIGR00231,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540;HGVSc=ENST00000341989.6:c.768A>T;HGVSp=ENST00000341989.6:c.768A>T(p.%3D);GMAF=T:0.0028;AFR_MAF=T:0.01;AA_MAF=T:0.005447;EA_MAF=T:0
rs115006916	22:23160895	T	ENSG00000100228	ENST00000420895	Transcript	downstream_gene_variant	-	-	-	-	-	rs115006916	DISTANCE=4584;STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000397594;UNIPARC=UPI0001611034;GMAF=T:0.0028;AFR_MAF=T:0.01;AA_MAF=T:0.005447;EA_MAF=T:0
rs115006916	22:23160895	T	ENSG00000100228	ENST00000263116	Transcript	synonymous_variant	874	834	278	A	gcA/gcT	rs115006916	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13805.1;ENSP=ENSP00000263116;SWISSPROT=O95755;UNIPARC=UPI000013D3AA;EXON=10/11;DOMAINS=Pfam_domain:PF00071,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,Prints_domain:PR00449,SMART_domains:SM00177,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540;HGVSc=ENST00000263116.4:c.834A>T;HGVSp=ENST00000263116.4:c.834A>T(p.%3D);GMAF=T:0.0028;AFR_MAF=T:0.01;AA_MAF=T:0.005447;EA_MAF=T:0
rs5759611	22:23160934	A	ENSG00000100228	ENST00000341989	Transcript	synonymous_variant	807	807	269	S	tcG/tcA	rs5759611,COSM3681396	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000343494;SWISSPROT=O95755;UNIPARC=UPI00003588D3;EXON=9/10;DOMAINS=SMART_domains:SM00176,Superfamily_domains:SSF52540;HGVSc=ENST00000341989.6:c.807G>A;HGVSp=ENST00000341989.6:c.807G>A(p.%3D);GMAF=A:0.2507;AFR_MAF=A:0.10;AMR_MAF=A:0.28;ASN_MAF=A:0.36;EUR_MAF=A:0.25;AA_MAF=A:0.121425;EA_MAF=A:0.257791;SOMATIC=0,1
rs5759611	22:23160934	A	ENSG00000100228	ENST00000420895	Transcript	downstream_gene_variant	-	-	-	-	-	rs5759611,COSM3681396	DISTANCE=4623;STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000397594;UNIPARC=UPI0001611034;GMAF=A:0.2507;AFR_MAF=A:0.10;AMR_MAF=A:0.28;ASN_MAF=A:0.36;EUR_MAF=A:0.25;AA_MAF=A:0.121425;EA_MAF=A:0.257791;SOMATIC=0,1
rs5759611	22:23160934	A	ENSG00000100228	ENST00000263116	Transcript	synonymous_variant	913	873	291	S	tcG/tcA	rs5759611,COSM3681396	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13805.1;ENSP=ENSP00000263116;SWISSPROT=O95755;UNIPARC=UPI000013D3AA;EXON=10/11;DOMAINS=SMART_domains:SM00177,SMART_domains:SM00176,Superfamily_domains:SSF52540;HGVSc=ENST00000263116.4:c.873G>A;HGVSp=ENST00000263116.4:c.873G>A(p.%3D);GMAF=A:0.2507;AFR_MAF=A:0.10;AMR_MAF=A:0.28;ASN_MAF=A:0.36;EUR_MAF=A:0.25;AA_MAF=A:0.121425;EA_MAF=A:0.257791;SOMATIC=0,1
rs5759612	22:23160983	G	ENSG00000100228	ENST00000341989	Transcript	missense_variant	856	856	286	N/D	Aat/Gat	rs5759612	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000343494;SWISSPROT=O95755;UNIPARC=UPI00003588D3;SIFT=tolerated(1);PolyPhen=benign(0.001);EXON=9/10;DOMAINS=SMART_domains:SM00176,Superfamily_domains:SSF52540;HGVSc=ENST00000341989.6:c.856A>G;HGVSp=ENSP00000343494.4:p.Asn286Asp;GMAF=A:0.4587;AFR_MAF=G:0.53;AMR_MAF=G:0.49;ASN_MAF=G:0.63;EUR_MAF=G:0.51;AA_MAF=G:0.545620;EA_MAF=G:0.498605
rs5759612	22:23160983	G	ENSG00000100228	ENST00000420895	Transcript	downstream_gene_variant	-	-	-	-	-	rs5759612	DISTANCE=4672;STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000397594;UNIPARC=UPI0001611034;GMAF=A:0.4587;AFR_MAF=G:0.53;AMR_MAF=G:0.49;ASN_MAF=G:0.63;EUR_MAF=G:0.51;AA_MAF=G:0.545620;EA_MAF=G:0.498605
rs5759612	22:23160983	G	ENSG00000100228	ENST00000263116	Transcript	missense_variant	962	922	308	N/D	Aat/Gat	rs5759612	STRAND=1;SYMBOL=RAB36;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9775;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13805.1;ENSP=ENSP00000263116;SWISSPROT=O95755;UNIPARC=UPI000013D3AA;SIFT=tolerated(1);PolyPhen=benign(0);EXON=10/11;DOMAINS=SMART_domains:SM00176,Superfamily_domains:SSF52540;HGVSc=ENST00000263116.4:c.922A>G;HGVSp=ENSP00000263116.2:p.Asn308Asp;GMAF=A:0.4587;AFR_MAF=G:0.53;AMR_MAF=G:0.49;ASN_MAF=G:0.63;EUR_MAF=G:0.51;AA_MAF=G:0.545620;EA_MAF=G:0.498605
rs9680526	22:24183535	A	ENSG00000099991	ENST00000337989	Transcript	downstream_gene_variant	-	-	-	-	-	rs9680526,rs56242760,COSM1180456	DISTANCE=4908;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000336991;TREMBL=B5MEB3;UNIPARC=UPI00002073A4;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099991	ENST00000617531	Transcript	downstream_gene_variant	-	-	-	-	-	rs9680526,rs56242760,COSM1180456	DISTANCE=4907;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS74830.1;ENSP=ENSP00000480560;UNIPARC=UPI0001F5506A;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099994	ENST00000358321	Transcript	missense_variant	589	328	110	S/T	Tcc/Acc	rs9680526,rs56242760,COSM1180456	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=tolerated(0.55);PolyPhen=benign(0.004);EXON=3/15;DOMAINS=Superfamily_domains:SSF81296;HGVSc=ENST00000358321.3:c.328T>A;HGVSp=ENSP00000351075.3:p.Ser110Thr;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099991	ENST00000398319	Transcript	downstream_gene_variant	-	-	-	-	-	rs9680526,rs56242760,COSM1180456	DISTANCE=4907;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13823.1;ENSP=ENSP00000381364;SWISSPROT=Q9Y6J0;TREMBL=A0A024R1E5;UNIPARC=UPI0000126D6C;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099991	ENST00000405822	Transcript	downstream_gene_variant	-	-	-	-	-	rs9680526,rs56242760,COSM1180456	DISTANCE=4907;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000384694;SWISSPROT=Q9Y6J0;TREMBL=Q8WTX5;UNIPARC=UPI0000EE58C4;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	732	-	-	-	-	rs9680526,rs56242760,COSM1180456	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=2/11;HGVSc=ENST00000463101.1:n.732T>A;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099991	ENST00000620406	Transcript	downstream_gene_variant	-	-	-	-	-	rs9680526,rs56242760,COSM1180456	DISTANCE=4908;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000481128;UNIPARC=UPI0002065639;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs9680526	22:24183535	A	ENSG00000099991	ENST00000263119	Transcript	downstream_gene_variant	-	-	-	-	-	rs9680526,rs56242760,COSM1180456	DISTANCE=4907;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13823.1;ENSP=ENSP00000263119;SWISSPROT=Q9Y6J0;TREMBL=A0A024R1E5;UNIPARC=UPI0000126D6C;GMAF=A:0.0289;AFR_MAF=A:0.08;AMR_MAF=A:0.03;EUR_MAF=A:0.02;AA_MAF=A:0.046981;EA_MAF=A:0.018488;SOMATIC=0,0,1
rs114362926	22:24183562	T	ENSG00000099991	ENST00000337989	Transcript	downstream_gene_variant	-	-	-	-	-	rs114362926	DISTANCE=4935;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000336991;TREMBL=B5MEB3;UNIPARC=UPI00002073A4;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099991	ENST00000617531	Transcript	downstream_gene_variant	-	-	-	-	-	rs114362926	DISTANCE=4934;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS74830.1;ENSP=ENSP00000480560;UNIPARC=UPI0001F5506A;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099994	ENST00000358321	Transcript	synonymous_variant	616	355	119	L	Ctg/Ttg	rs114362926	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;EXON=3/15;DOMAINS=Superfamily_domains:SSF81296;HGVSc=ENST00000358321.3:c.355C>T;HGVSp=ENST00000358321.3:c.355C>T(p.%3D);GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099991	ENST00000398319	Transcript	downstream_gene_variant	-	-	-	-	-	rs114362926	DISTANCE=4934;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13823.1;ENSP=ENSP00000381364;SWISSPROT=Q9Y6J0;TREMBL=A0A024R1E5;UNIPARC=UPI0000126D6C;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099991	ENST00000405822	Transcript	downstream_gene_variant	-	-	-	-	-	rs114362926	DISTANCE=4934;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000384694;SWISSPROT=Q9Y6J0;TREMBL=Q8WTX5;UNIPARC=UPI0000EE58C4;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	759	-	-	-	-	rs114362926	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=2/11;HGVSc=ENST00000463101.1:n.759C>T;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099991	ENST00000620406	Transcript	downstream_gene_variant	-	-	-	-	-	rs114362926	DISTANCE=4935;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000481128;UNIPARC=UPI0002065639;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	ENSG00000099991	ENST00000263119	Transcript	downstream_gene_variant	-	-	-	-	-	rs114362926	DISTANCE=4934;STRAND=1;SYMBOL=CABIN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24187;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13823.1;ENSP=ENSP00000263119;SWISSPROT=Q9Y6J0;TREMBL=A0A024R1E5;UNIPARC=UPI0000126D6C;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs114362926	22:24183562	T	-	ENSR00000673062	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114362926	BIOTYPE=enhancer;GMAF=T:0.0037;AFR_MAF=T:0.01;AMR_MAF=T:0.0028;AA_MAF=T:0.027690;EA_MAF=T:0
rs115180746	22:24184189	G	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1386	-	-	-	-	rs115180746	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=2/11;HGVSc=ENST00000463101.1:n.1386C>G;GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.019519;EA_MAF=G:0
rs115180746	22:24184189	G	ENSG00000099994	ENST00000358321	Transcript	missense_variant	754	493	165	R/G	Cgt/Ggt	rs115180746	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=deleterious(0.02);PolyPhen=benign(0.157);EXON=4/15;HGVSc=ENST00000358321.3:c.493C>G;HGVSp=ENSP00000351075.3:p.Arg165Gly;GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.019519;EA_MAF=G:0
rs116768581	22:24185897	G	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2200	-	-	-	-	rs116768581	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=6/11;HGVSc=ENST00000463101.1:n.2200A>G;GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.013352;EA_MAF=G:0.000117
rs116768581	22:24185897	G	ENSG00000099994	ENST00000358321	Transcript	missense_variant	1568	1307	436	N/S	aAt/aGt	rs116768581	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=tolerated(1);PolyPhen=benign(0);EXON=8/15;DOMAINS=SMART_domains:SM00216;HGVSc=ENST00000358321.3:c.1307A>G;HGVSp=ENSP00000351075.3:p.Asn436Ser;GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.013352;EA_MAF=G:0.000117
rs8141797	22:24186073	G	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2290	-	-	-	-	rs8141797	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=7/11;HGVSc=ENST00000463101.1:n.2290A>G;GMAF=G:0.0996;AFR_MAF=G:0.18;AMR_MAF=G:0.08;ASN_MAF=G:0.11;EUR_MAF=G:0.05;AA_MAF=G:0.168861;EA_MAF=G:0.063372;PUBMED=23624525,20887961,21119753
rs8141797	22:24186073	G	ENSG00000099994	ENST00000358321	Transcript	missense_variant	1658	1397	466	N/S	aAt/aGt	rs8141797	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=tolerated(0.16);PolyPhen=benign(0.252);EXON=9/15;DOMAINS=Pfam_domain:PF00094,SMART_domains:SM00216;HGVSc=ENST00000358321.3:c.1397A>G;HGVSp=ENSP00000351075.3:p.Asn466Ser;GMAF=G:0.0996;AFR_MAF=G:0.18;AMR_MAF=G:0.08;ASN_MAF=G:0.11;EUR_MAF=G:0.05;AA_MAF=G:0.168861;EA_MAF=G:0.063372;PUBMED=23624525,20887961,21119753
rs115684319	22:24186268	T	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2388	-	-	-	-	rs115684319	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=8/11;HGVSc=ENST00000463101.1:n.2388C>T;GMAF=T:0.0101;AFR_MAF=T:0.04;AA_MAF=T:0.041326;EA_MAF=T:0.000116
rs115684319	22:24186268	T	ENSG00000099994	ENST00000358321	Transcript	missense_variant	1756	1495	499	R/C	Cgt/Tgt	rs115684319	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.846);EXON=10/15;DOMAINS=Pfam_domain:PF00094,SMART_domains:SM00216;HGVSc=ENST00000358321.3:c.1495C>T;HGVSp=ENSP00000351075.3:p.Arg499Cys;GMAF=T:0.0101;AFR_MAF=T:0.04;AA_MAF=T:0.041326;EA_MAF=T:0.000116
rs114116736	22:24186269	A	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2389	-	-	-	-	rs114116736	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=8/11;HGVSc=ENST00000463101.1:n.2389G>A
rs114116736	22:24186269	A	ENSG00000099994	ENST00000358321	Transcript	missense_variant	1757	1496	499	R/H	cGt/cAt	rs114116736	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=tolerated(0.1);PolyPhen=benign(0.022);EXON=10/15;DOMAINS=Pfam_domain:PF00094,SMART_domains:SM00216;HGVSc=ENST00000358321.3:c.1496G>A;HGVSp=ENSP00000351075.3:p.Arg499His
rs115131208	22:24187416	T	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3536	-	-	-	-	rs115131208	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=8/11;HGVSc=ENST00000463101.1:n.3536C>T;GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.000681;EA_MAF=T:0
rs115131208	22:24187416	T	ENSG00000099994	ENST00000358321	Transcript	synonymous_variant	2118	1857	619	T	acC/acT	rs115131208	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;EXON=11/15;HGVSc=ENST00000358321.3:c.1857C>T;HGVSp=ENST00000358321.3:c.1857C>T(p.%3D);GMAF=T:0.0023;AFR_MAF=T:0.01;AA_MAF=T:0.000681;EA_MAF=T:0
rs116712499	22:24187576	A	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3696	-	-	-	-	rs116712499	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=8/11;HGVSc=ENST00000463101.1:n.3696G>A;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.000454;EA_MAF=A:0.000116
rs116712499	22:24187576	A	ENSG00000099994	ENST00000358321	Transcript	missense_variant	2158	1897	633	V/M	Gtg/Atg	rs116712499	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.908);EXON=12/15;HGVSc=ENST00000358321.3:c.1897G>A;HGVSp=ENSP00000351075.3:p.Val633Met;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.000454;EA_MAF=A:0.000116
rs114572804	22:24187599	T	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	3719	-	-	-	-	rs114572804	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=8/11;HGVSc=ENST00000463101.1:n.3719C>T;GMAF=T:0.0005;AFR_MAF=T:0.0020
rs114572804	22:24187599	T	ENSG00000099994	ENST00000358321	Transcript	synonymous_variant	2181	1920	640	L	ctC/ctT	rs114572804	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;EXON=12/15;HGVSc=ENST00000358321.3:c.1920C>T;HGVSp=ENST00000358321.3:c.1920C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020
rs74558263	22:24188053	T	ENSG00000099994	ENST00000463101	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	4058	-	-	-	-	rs74558263	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=retained_intron;TSL=2;EXON=9/11;HGVSc=ENST00000463101.1:n.4058C>T;GMAF=T:0.0216;AFR_MAF=T:0.09;AMR_MAF=T:0.0028;ASN_MAF=T:0.0035;EUR_MAF=T:0.0013;AA_MAF=T:0.073309;EA_MAF=T:0.000349
rs74558263	22:24188053	T	ENSG00000099994	ENST00000358321	Transcript	synonymous_variant	2520	2259	753	N	aaC/aaT	rs74558263	STRAND=1;SYMBOL=SUSD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30667;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13824.1;ENSP=ENSP00000351075;SWISSPROT=Q9UGT4;UNIPARC=UPI000006CC92;EXON=13/15;DOMAINS=Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535;HGVSc=ENST00000358321.3:c.2259C>T;HGVSp=ENST00000358321.3:c.2259C>T(p.%3D);GMAF=T:0.0216;AFR_MAF=T:0.09;AMR_MAF=T:0.0028;ASN_MAF=T:0.0035;EUR_MAF=T:0.0013;AA_MAF=T:0.073309;EA_MAF=T:0.000349
rs17885497	22:28742305	C	ENSG00000100209	ENST00000398941	Transcript	synonymous_variant	251	210	70	T	acT/acC	rs17885497	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000381914;TREMBL=B0QYH2;UNIPARC=UPI0000EE5940;EXON=1/5;HGVSc=ENST00000398941.4:c.210T>C;HGVSp=ENST00000398941.4:c.210T>C(p.%3D);GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000382565	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=471;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000372006;TREMBL=E7EPP1;UNIPARC=UPI0000D48AD4;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000100209	ENST00000485599	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	155	-	-	-	-	rs17885497	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=processed_transcript;TSL=5;EXON=1/4;HGVSc=ENST00000485599.3:n.155T>C;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000100209	ENST00000450178	Transcript	synonymous_variant,NMD_transcript_variant	264	210	70	T	acT/acC	rs17885497	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=nonsense_mediated_decay;TSL=3;ENSP=ENSP00000406284;TREMBL=F8WBY7;UNIPARC=UPI000161103F;EXON=1/6;HGVSc=ENST00000450178.3:c.210T>C;HGVSp=ENST00000450178.3:c.210T>C(p.%3D);GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000439200	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=522;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408065;TREMBL=B7ZBF7;UNIPARC=UPI000161103A;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000348295	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=471;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13844.1;ENSP=ENSP00000329012;SWISSPROT=O96017;UNIPARC=UPI000006EA3C;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000382580	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=467;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33629.1;ENSP=ENSP00000372023;SWISSPROT=O96017;TREMBL=B7ZBF2;UNIPARC=UPI000034E4A3;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000100209	ENST00000420442	Transcript	synonymous_variant,NMD_transcript_variant	245	210	70	T	acT/acC	rs17885497	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000416679;TREMBL=B0QYH2;UNIPARC=UPI0000EE5940;EXON=1/6;HGVSc=ENST00000420442.3:c.210T>C;HGVSp=ENST00000420442.3:c.210T>C(p.%3D);GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000398017	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=503;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000381099;TREMBL=B7ZBF8;UNIPARC=UPI0001611039;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000328354	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=461;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13843.1;ENSP=ENSP00000329178;SWISSPROT=O96017;TREMBL=B7ZBF2;UNIPARC=UPI00000316FF;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000425190	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=494;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390244;TREMBL=B7ZBF2;UNIPARC=UPI0001611038;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000100209	ENST00000216027	Transcript	synonymous_variant	275	210	70	T	acT/acC	rs17885497	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13845.1;ENSP=ENSP00000216027;SWISSPROT=Q8IWL3;UNIPARC=UPI000013C6B6;EXON=1/6;HGVSc=ENST00000216027.5:c.210T>C;HGVSp=ENST00000216027.5:c.210T>C(p.%3D);GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000100209	ENST00000495977	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=396;STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=processed_transcript;TSL=3;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000416671	Transcript	5_prime_UTR_variant,NMD_transcript_variant	118	-	-	-	-	rs17885497	STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000402225;TREMBL=E7EPP1;UNIPARC=UPI0000D48AD4;EXON=1/16;HGVSc=ENST00000416671.3:c.-543A>G;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000405598	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=505;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13843.1;ENSP=ENSP00000386087;SWISSPROT=O96017;TREMBL=B7ZBF2;UNIPARC=UPI00000316FF;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000183765	ENST00000433028	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=499;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000403659;TREMBL=F8WCV2;UNIPARC=UPI0000D4EA8E;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	ENSG00000100209	ENST00000483861	Transcript	upstream_gene_variant	-	-	-	-	-	rs17885497	DISTANCE=374;STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=processed_transcript;TSL=3;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17885497	22:28742305	C	-	ENSR00000616540	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs17885497	BIOTYPE=promoter;GMAF=C:0.0018;AFR_MAF=C:0.01;AMR_MAF=C:0.0028;AA_MAF=C:0.005227;EA_MAF=C:0
rs17884212	22:28745929	G	ENSG00000100209	ENST00000398941	Transcript	intron_variant	-	-	-	-	-	rs17884212	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000381914;TREMBL=B0QYH2;UNIPARC=UPI0000EE5940;INTRON=3/4;HGVSc=ENST00000398941.4:c.428+1220A>G;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000382565	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4095;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000372006;TREMBL=E7EPP1;UNIPARC=UPI0000D48AD4;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000100209	ENST00000485599	Transcript	downstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=386;STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=processed_transcript;TSL=5;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000100209	ENST00000450178	Transcript	3_prime_UTR_variant,NMD_transcript_variant	488	-	-	-	-	rs17884212	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=nonsense_mediated_decay;TSL=3;ENSP=ENSP00000406284;TREMBL=F8WBY7;UNIPARC=UPI000161103F;EXON=4/6;HGVSc=ENST00000450178.3:c.*116A>G;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000439200	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4146;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000408065;TREMBL=B7ZBF7;UNIPARC=UPI000161103A;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000348295	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4095;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13844.1;ENSP=ENSP00000329012;SWISSPROT=O96017;UNIPARC=UPI000006EA3C;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000382580	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4091;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33629.1;ENSP=ENSP00000372023;SWISSPROT=O96017;TREMBL=B7ZBF2;UNIPARC=UPI000034E4A3;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000100209	ENST00000420442	Transcript	3_prime_UTR_variant,NMD_transcript_variant	529	-	-	-	-	rs17884212	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000416679;TREMBL=B0QYH2;UNIPARC=UPI0000EE5940;EXON=4/6;HGVSc=ENST00000420442.3:c.*62A>G;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000398017	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4127;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000381099;TREMBL=B7ZBF8;UNIPARC=UPI0001611039;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000328354	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4085;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13843.1;ENSP=ENSP00000329178;SWISSPROT=O96017;TREMBL=B7ZBF2;UNIPARC=UPI00000316FF;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000425190	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4118;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390244;TREMBL=B7ZBF2;UNIPARC=UPI0001611038;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000100209	ENST00000216027	Transcript	missense_variant	554	489	163	I/M	atA/atG	rs17884212	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13845.1;ENSP=ENSP00000216027;SWISSPROT=Q8IWL3;UNIPARC=UPI000013C6B6;SIFT=tolerated(1);PolyPhen=benign(0);EXON=4/6;DOMAINS=Pfam_domain:PF07743,TIGRFAM_domain:TIGR00714,Superfamily_domains:SSF47144;HGVSc=ENST00000216027.5:c.489A>G;HGVSp=ENSP00000216027.3:p.Ile163Met;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000100209	ENST00000495977	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	286	-	-	-	-	rs17884212	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=processed_transcript;TSL=3;EXON=4/6;HGVSc=ENST00000495977.1:n.286A>G;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000416671	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=3507;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000402225;TREMBL=E7EPP1;UNIPARC=UPI0000D48AD4;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000405598	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4129;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13843.1;ENSP=ENSP00000386087;SWISSPROT=O96017;TREMBL=B7ZBF2;UNIPARC=UPI00000316FF;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000183765	ENST00000433028	Transcript	upstream_gene_variant	-	-	-	-	-	rs17884212	DISTANCE=4123;STRAND=-1;SYMBOL=CHEK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16627;BIOTYPE=nonsense_mediated_decay;TSL=5;ENSP=ENSP00000403659;TREMBL=F8WCV2;UNIPARC=UPI0000D4EA8E;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs17884212	22:28745929	G	ENSG00000100209	ENST00000483861	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	303	-	-	-	-	rs17884212	STRAND=1;SYMBOL=HSCB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28913;BIOTYPE=processed_transcript;TSL=3;EXON=4/6;HGVSc=ENST00000483861.3:n.303A>G;GMAF=G:0.0161;AFR_MAF=G:0.07;AMR_MAF=G:0.01;AA_MAF=G:0.066273;EA_MAF=G:0.000233
rs116796967	22:30263994	T	ENSG00000099985	ENST00000403389	Transcript	synonymous_variant	874	585	195	P	ccG/ccA	rs116796967	STRAND=-1;SYMBOL=OSM;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8506;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000383893;TREMBL=B5BUQ7,B5MCX1;UNIPARC=UPI0001610F4E;EXON=3/3;HGVSc=ENST00000403389.1:c.585G>A;HGVSp=ENST00000403389.1:c.585G>A(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.015660;EA_MAF=T:0.000116
rs116796967	22:30263994	T	ENSG00000099985	ENST00000403463	Transcript	downstream_gene_variant	-	-	-	-	-	rs116796967	DISTANCE=81;STRAND=-1;SYMBOL=OSM;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8506;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000384543;TREMBL=B5MC70;UNIPARC=UPI0001610F4D;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.015660;EA_MAF=T:0.000116
rs116796967	22:30263994	T	ENSG00000099985	ENST00000215781	Transcript	synonymous_variant	689	648	216	P	ccG/ccA	rs116796967	STRAND=-1;SYMBOL=OSM;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8506;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13873.1;ENSP=ENSP00000215781;SWISSPROT=P13725;TREMBL=B5BUQ7,B5MCX1;UNIPARC=UPI0000130D33;EXON=3/3;HGVSc=ENST00000215781.2:c.648G>A;HGVSp=ENST00000215781.2:c.648G>A(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.015660;EA_MAF=T:0.000116
rs114880151	22:30264324	C	ENSG00000099985	ENST00000403389	Transcript	synonymous_variant	544	255	85	V	gtC/gtG	rs114880151	STRAND=-1;SYMBOL=OSM;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8506;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000383893;TREMBL=B5BUQ7,B5MCX1;UNIPARC=UPI0001610F4E;EXON=3/3;DOMAINS=Pfam_domain:PF01291,SMART_domains:SM00080,Superfamily_domains:SSF47266;HGVSc=ENST00000403389.1:c.255C>G;HGVSp=ENST00000403389.1:c.255C>G(p.%3D);AA_MAF=C:0.001816;EA_MAF=C:0
rs114880151	22:30264324	C	ENSG00000099985	ENST00000403463	Transcript	3_prime_UTR_variant	215	-	-	-	-	rs114880151	STRAND=-1;SYMBOL=OSM;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8506;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000384543;TREMBL=B5MC70;UNIPARC=UPI0001610F4D;EXON=2/2;HGVSc=ENST00000403463.1:c.*112C>G;AA_MAF=C:0.001816;EA_MAF=C:0
rs114880151	22:30264324	C	ENSG00000099985	ENST00000215781	Transcript	synonymous_variant	359	318	106	V	gtC/gtG	rs114880151	STRAND=-1;SYMBOL=OSM;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8506;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13873.1;ENSP=ENSP00000215781;SWISSPROT=P13725;TREMBL=B5BUQ7,B5MCX1;UNIPARC=UPI0000130D33;EXON=3/3;DOMAINS=Pfam_domain:PF01291,SMART_domains:SM00080,Superfamily_domains:SSF47266;HGVSc=ENST00000215781.2:c.318C>G;HGVSp=ENST00000215781.2:c.318C>G(p.%3D);AA_MAF=C:0.001816;EA_MAF=C:0
rs5753130	22:30427209	C	ENSG00000242114	ENST00000614920	Transcript	downstream_gene_variant	-	-	-	-	-	rs5753130,COSM4002140	DISTANCE=17;STRAND=1;SYMBOL=MTFP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26945;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000242114	ENST00000407550	Transcript	intron_variant	-	-	-	-	-	rs5753130,COSM4002140	STRAND=1;SYMBOL=MTFP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26945;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383926;TREMBL=B5MC22;UNIPARC=UPI0000207503;INTRON=2/3;HGVSc=ENST00000407550.3:c.196-31T>C;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000242114	ENST00000355143	Transcript	intron_variant	-	-	-	-	-	rs5753130,COSM4002140	STRAND=1;SYMBOL=MTFP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26945;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS33634.1;ENSP=ENSP00000347267;SWISSPROT=Q9UDX5;UNIPARC=UPI0000418D52;INTRON=2/2;HGVSc=ENST00000355143.6:c.195+365T>C;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000100003	ENST00000617837	Transcript	downstream_gene_variant	-	-	-	-	-	rs5753130,COSM4002140	DISTANCE=3371;STRAND=1;SYMBOL=SEC14L2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10699;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000482467;TREMBL=B3KRD8;UNIPARC=UPI0000EE5A9D;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000242114	ENST00000412752	Transcript	3_prime_UTR_variant,NMD_transcript_variant	383	-	-	-	-	rs5753130,COSM4002140	STRAND=1;SYMBOL=MTFP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26945;BIOTYPE=nonsense_mediated_decay;TSL=3;ENSP=ENSP00000393954;TREMBL=F8WEN7;UNIPARC=UPI00005791EC;EXON=3/4;HGVSc=ENST00000412752.3:c.*58T>C;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000249590	ENST00000454552	Transcript	intron_variant,NMD_transcript_variant	-	-	-	-	-	rs5753130,COSM4002140	STRAND=1;SYMBOL=RP4-539M6.19;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000416788;UNIPARC=UPI0001610F95;INTRON=4/4;HGVSc=ENST00000454552.3:c.*121-1253T>C;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000100003	ENST00000620251	Transcript	downstream_gene_variant	-	-	-	-	-	rs5753130,COSM4002140	DISTANCE=3371;STRAND=1;SYMBOL=SEC14L2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10699;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000249590	ENST00000439023	Transcript	intron_variant	-	-	-	-	-	rs5753130,COSM4002140	STRAND=1;SYMBOL=RP4-539M6.19;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000400753;UNIPARC=UPI0001610F97;INTRON=3/3;HGVSc=ENST00000439023.3:c.166-1253T>C;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000100003	ENST00000402592	Transcript	downstream_gene_variant	-	-	-	-	-	rs5753130,COSM4002140	DISTANCE=4608;STRAND=1;SYMBOL=SEC14L2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10699;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS56228.1;ENSP=ENSP00000383882;SWISSPROT=O76054;UNIPARC=UPI0001FAF2DA;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000242114	ENST00000266263	Transcript	synonymous_variant	584	234	78	T	acT/acC	rs5753130,COSM4002140	STRAND=1;SYMBOL=MTFP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26945;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33635.1;ENSP=ENSP00000266263;SWISSPROT=Q9UDX5;TREMBL=A0A024R1E4;UNIPARC=UPI000000DB3E;EXON=3/4;DOMAINS=Pfam_domain:PF10558;HGVSc=ENST00000266263.7:c.234T>C;HGVSp=ENST00000266263.7:c.234T>C(p.%3D);GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000249590	ENST00000439838	Transcript	synonymous_variant	750	750	250	T	acT/acC	rs5753130,COSM4002140	STRAND=1;SYMBOL=RP4-539M6.19;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;ENSP=ENSP00000415178;TREMBL=H7C417;UNIPARC=UPI0001610F96;EXON=8/9;DOMAINS=Pfam_domain:PF10558;HGVSc=ENST00000439838.3:c.750T>C;HGVSp=ENST00000439838.3:c.750T>C(p.%3D);GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000100003	ENST00000615189	Transcript	downstream_gene_variant	-	-	-	-	-	rs5753130,COSM4002140	DISTANCE=1892;STRAND=1;SYMBOL=SEC14L2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10699;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13876.1;ENSP=ENSP00000478755;SWISSPROT=O76054;TREMBL=B7Z3Z8,A0A024R1I5,C9JZI9;UNIPARC=UPI0000135433;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs5753130	22:30427209	C	ENSG00000100003	ENST00000619483	Transcript	downstream_gene_variant	-	-	-	-	-	rs5753130,COSM4002140	DISTANCE=3369;STRAND=1;SYMBOL=SEC14L2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10699;BIOTYPE=retained_intron;TSL=1;GMAF=T:0.4472;AFR_MAF=C:0.51;AMR_MAF=C:0.59;ASN_MAF=C:0.69;EUR_MAF=C:0.46;AA_MAF=C:0.479119;EA_MAF=C:0.448023;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000540910	Transcript	missense_variant	1209	859	287	R/C	Cgc/Tgc	rs35764129,COSM4002141	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.09);PolyPhen=benign(0.085);EXON=12/12;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000540910.3:c.859C>T;HGVSp=ENSP00000439752.1:p.Arg287Cys;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000403066	Transcript	intron_variant	-	-	-	-	-	rs35764129,COSM4002141	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;INTRON=12/12;HGVSc=ENST00000403066.3:c.904+1176C>T;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000401751	Transcript	missense_variant	1166	913	305	R/C	Cgc/Tgc	rs35764129,COSM4002141	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=tolerated(0.09);PolyPhen=benign(0.01);EXON=13/13;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000401751.3:c.913C>T;HGVSp=ENSP00000383896.1:p.Arg305Cys;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000435069	Transcript	downstream_gene_variant	-	-	-	-	-	rs35764129,COSM4002141	DISTANCE=1536;STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1236	-	-	-	-	rs35764129,COSM4002141	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=13/13;HGVSc=ENST00000434642.3:c.*1052C>T;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000402286	Transcript	missense_variant	1336	859	287	R/C	Cgc/Tgc	rs35764129,COSM4002141	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.09);PolyPhen=benign(0.085);EXON=14/14;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000402286.3:c.859C>T;HGVSp=ENSP00000385004.1:p.Arg287Cys;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs35764129	22:30460134	A	ENSG00000100012	ENST00000215812	Transcript	missense_variant	1181	1090	364	R/C	Cgc/Tgc	rs35764129,COSM4002141	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(0.05);PolyPhen=benign(0.01);EXON=12/12;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000215812.6:c.1090C>T;HGVSp=ENSP00000215812.4:p.Arg364Cys;GMAF=A:0.0464;AFR_MAF=A:0.01;AMR_MAF=A:0.06;ASN_MAF=A:0.09;EUR_MAF=A:0.03;AA_MAF=A:0.013845;EA_MAF=A:0.037093;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000540910	Transcript	missense_variant	1124	774	258	D/E	gaT/gaG	rs2240345,COSM330401	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(1);PolyPhen=benign(0);EXON=11/12;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000540910.3:c.774T>G;HGVSp=ENSP00000439752.1:p.Asp258Glu;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000403066	Transcript	missense_variant	1112	828	276	D/E	gaT/gaG	rs2240345,COSM330401	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;SIFT=tolerated(1);PolyPhen=benign(0);EXON=12/13;DOMAINS=Superfamily_domains:SSF101576;HGVSc=ENST00000403066.3:c.828T>G;HGVSp=ENSP00000385941.1:p.Asp276Glu;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000401751	Transcript	missense_variant	1081	828	276	D/E	gaT/gaG	rs2240345,COSM330401	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=tolerated(1);PolyPhen=benign(0);EXON=12/13;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000401751.3:c.828T>G;HGVSp=ENSP00000383896.1:p.Asp276Glu;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000435069	Transcript	downstream_gene_variant	-	-	-	-	-	rs2240345,COSM330401	DISTANCE=284;STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1151	-	-	-	-	rs2240345,COSM330401	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=12/13;HGVSc=ENST00000434642.3:c.*967T>G;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000402286	Transcript	missense_variant	1251	774	258	D/E	gaT/gaG	rs2240345,COSM330401	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(1);PolyPhen=benign(0);EXON=13/14;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000402286.3:c.774T>G;HGVSp=ENSP00000385004.1:p.Asp258Glu;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs2240345	22:30461386	C	ENSG00000100012	ENST00000215812	Transcript	missense_variant	1096	1005	335	D/E	gaT/gaG	rs2240345,COSM330401	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(1);PolyPhen=benign(0);EXON=11/12;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000215812.6:c.1005T>G;HGVSp=ENSP00000215812.4:p.Asp335Glu;GMAF=A:0.2475;AFR_MAF=C:0.90;AMR_MAF=C:0.66;ASN_MAF=C:0.87;EUR_MAF=C:0.62;AA_MAF=C:0.854063;EA_MAF=C:0.609535;SOMATIC=0,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000540910	Transcript	synonymous_variant	1049	699	233	D	gaT/gaC	rs5749104,COSM4156137,COSM4156138	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=11/12;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000540910.3:c.699T>C;HGVSp=ENST00000540910.3:c.699T>C(p.%3D);GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000403066	Transcript	synonymous_variant	1037	753	251	D	gaT/gaC	rs5749104,COSM4156137,COSM4156138	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;EXON=12/13;DOMAINS=Superfamily_domains:SSF101576;HGVSc=ENST00000403066.3:c.753T>C;HGVSp=ENST00000403066.3:c.753T>C(p.%3D);GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000401751	Transcript	synonymous_variant	1006	753	251	D	gaT/gaC	rs5749104,COSM4156137,COSM4156138	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;EXON=12/13;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000401751.3:c.753T>C;HGVSp=ENST00000401751.3:c.753T>C(p.%3D);GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000435069	Transcript	downstream_gene_variant	-	-	-	-	-	rs5749104,COSM4156137,COSM4156138	DISTANCE=209;STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1076	-	-	-	-	rs5749104,COSM4156137,COSM4156138	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=12/13;HGVSc=ENST00000434642.3:c.*892T>C;GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000402286	Transcript	synonymous_variant	1176	699	233	D	gaT/gaC	rs5749104,COSM4156137,COSM4156138	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=13/14;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000402286.3:c.699T>C;HGVSp=ENST00000402286.3:c.699T>C(p.%3D);GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs5749104	22:30461461	G	ENSG00000100012	ENST00000215812	Transcript	synonymous_variant	1021	930	310	D	gaT/gaC	rs5749104,COSM4156137,COSM4156138	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;EXON=11/12;DOMAINS=PROSITE_profiles:PS50866,Superfamily_domains:SSF101576;HGVSc=ENST00000215812.6:c.930T>C;HGVSp=ENST00000215812.6:c.930T>C(p.%3D);GMAF=A:0.2599;AFR_MAF=G:0.90;AMR_MAF=G:0.65;ASN_MAF=G:0.87;EUR_MAF=G:0.58;AA_MAF=G:0.856105;EA_MAF=G:0.583488;SOMATIC=0,1,1
rs114917409	22:30461658	G	ENSG00000100012	ENST00000540910	Transcript	missense_variant	927	577	193	V/L	Gtg/Ctg	rs114917409	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.85);PolyPhen=benign(0.001);EXON=10/12;DOMAINS=Superfamily_domains:SSF52087;HGVSc=ENST00000540910.3:c.577G>C;HGVSp=ENSP00000439752.1:p.Val193Leu;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs114917409	22:30461658	G	ENSG00000100012	ENST00000403066	Transcript	missense_variant	915	631	211	V/L	Gtg/Ctg	rs114917409	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;SIFT=tolerated(1);PolyPhen=benign(0);EXON=11/13;DOMAINS=Superfamily_domains:SSF52087;HGVSc=ENST00000403066.3:c.631G>C;HGVSp=ENSP00000385941.1:p.Val211Leu;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs114917409	22:30461658	G	ENSG00000100012	ENST00000401751	Transcript	missense_variant	884	631	211	V/L	Gtg/Ctg	rs114917409	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=tolerated(0.88);PolyPhen=benign(0.003);EXON=11/13;DOMAINS=Superfamily_domains:SSF52087;HGVSc=ENST00000401751.3:c.631G>C;HGVSp=ENSP00000383896.1:p.Val211Leu;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs114917409	22:30461658	G	ENSG00000100012	ENST00000435069	Transcript	downstream_gene_variant	-	-	-	-	-	rs114917409	DISTANCE=12;STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs114917409	22:30461658	G	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	954	-	-	-	-	rs114917409	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=11/13;HGVSc=ENST00000434642.3:c.*770G>C;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs114917409	22:30461658	G	ENSG00000100012	ENST00000402286	Transcript	missense_variant	1054	577	193	V/L	Gtg/Ctg	rs114917409	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.85);PolyPhen=benign(0.001);EXON=12/14;DOMAINS=Superfamily_domains:SSF52087;HGVSc=ENST00000402286.3:c.577G>C;HGVSp=ENSP00000385004.1:p.Val193Leu;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs114917409	22:30461658	G	ENSG00000100012	ENST00000215812	Transcript	missense_variant	899	808	270	V/L	Gtg/Ctg	rs114917409	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(0.96);PolyPhen=benign(0.003);EXON=10/12;DOMAINS=Superfamily_domains:SSF52087;HGVSc=ENST00000215812.6:c.808G>C;HGVSp=ENSP00000215812.4:p.Val270Leu;GMAF=G:0.0064;AFR_MAF=G:0.02;AMR_MAF=G:0.01;AA_MAF=G:0.026555;EA_MAF=G:0.001512
rs115111929	22:30462162	C	ENSG00000100012	ENST00000540910	Transcript	missense_variant	814	464	155	I/S	aTc/aGc	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=deleterious(0);PolyPhen=probably_damaging(0.968);EXON=9/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000540910.3:c.464T>G;HGVSp=ENSP00000439752.1:p.Ile155Ser;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs115111929	22:30462162	C	ENSG00000100012	ENST00000403066	Transcript	missense_variant	802	518	173	I/S	aTc/aGc	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;SIFT=deleterious(0);PolyPhen=probably_damaging(0.922);EXON=10/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000403066.3:c.518T>G;HGVSp=ENSP00000385941.1:p.Ile173Ser;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs115111929	22:30462162	C	ENSG00000100012	ENST00000401751	Transcript	missense_variant	771	518	173	I/S	aTc/aGc	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.859);EXON=10/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,Superfamily_domains:SSF52087,SMART_domains:SM00516;HGVSc=ENST00000401751.3:c.518T>G;HGVSp=ENSP00000383896.1:p.Ile173Ser;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs115111929	22:30462162	C	ENSG00000100012	ENST00000435069	Transcript	missense_variant	592	593	198	I/S	aTc/aGc	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;SIFT=deleterious(0);PolyPhen=benign(0.414);EXON=7/8;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000435069.1:c.592T>G;HGVSp=ENSP00000402986.1:p.Ile198Ser;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs115111929	22:30462162	C	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	841	-	-	-	-	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=10/13;HGVSc=ENST00000434642.3:c.*657T>G;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs115111929	22:30462162	C	ENSG00000100012	ENST00000402286	Transcript	missense_variant	941	464	155	I/S	aTc/aGc	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=deleterious(0);PolyPhen=probably_damaging(0.968);EXON=11/14;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000402286.3:c.464T>G;HGVSp=ENSP00000385004.1:p.Ile155Ser;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs115111929	22:30462162	C	ENSG00000100012	ENST00000215812	Transcript	missense_variant	786	695	232	I/S	aTc/aGc	rs115111929	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.859);EXON=9/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000215812.6:c.695T>G;HGVSp=ENSP00000215812.4:p.Ile232Ser;GMAF=C:0.0005;AFR_MAF=C:0.0041
rs2269961	22:30464843	T	ENSG00000100012	ENST00000540910	Transcript	missense_variant	760	410	137	R/H	cGc/cAc	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.06);PolyPhen=benign(0.114);EXON=8/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000540910.3:c.410G>A;HGVSp=ENSP00000439752.1:p.Arg137His;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs2269961	22:30464843	T	ENSG00000100012	ENST00000403066	Transcript	missense_variant	748	464	155	R/H	cGc/cAc	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;SIFT=deleterious(0.03);PolyPhen=benign(0.041);EXON=9/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000403066.3:c.464G>A;HGVSp=ENSP00000385941.1:p.Arg155His;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs2269961	22:30464843	T	ENSG00000100012	ENST00000401751	Transcript	missense_variant	717	464	155	R/H	cGc/cAc	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=tolerated(0.06);PolyPhen=benign(0.003);EXON=9/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,Superfamily_domains:SSF52087,SMART_domains:SM00516;HGVSc=ENST00000401751.3:c.464G>A;HGVSp=ENSP00000383896.1:p.Arg155His;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs2269961	22:30464843	T	ENSG00000100012	ENST00000435069	Transcript	missense_variant	538	539	180	R/H	cGc/cAc	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;SIFT=tolerated(0.07);PolyPhen=benign(0.006);EXON=6/8;DOMAINS=Pfam_domain:PF00650,Prints_domain:PR00180,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000435069.1:c.538G>A;HGVSp=ENSP00000402986.1:p.Arg180His;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs2269961	22:30464843	T	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	787	-	-	-	-	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=9/13;HGVSc=ENST00000434642.3:c.*603G>A;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs2269961	22:30464843	T	ENSG00000100012	ENST00000402286	Transcript	missense_variant	887	410	137	R/H	cGc/cAc	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.06);PolyPhen=benign(0.114);EXON=10/14;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000402286.3:c.410G>A;HGVSp=ENSP00000385004.1:p.Arg137His;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs2269961	22:30464843	T	ENSG00000100012	ENST00000215812	Transcript	missense_variant	732	641	214	R/H	cGc/cAc	rs2269961	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(0.05);PolyPhen=benign(0.003);EXON=8/12;DOMAINS=Pfam_domain:PF00650,Prints_domain:PR00180,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000215812.6:c.641G>A;HGVSp=ENSP00000215812.4:p.Arg214His;GMAF=T:0.2296;AFR_MAF=T:0.19;AMR_MAF=T:0.17;ASN_MAF=T:0.32;EUR_MAF=T:0.22;AA_MAF=T:0.229687;EA_MAF=T:0.213140
rs116469787	22:30466386	A	ENSG00000100012	ENST00000540910	Transcript	synonymous_variant	647	297	99	G	ggC/ggT	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=7/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000540910.3:c.297C>T;HGVSp=ENST00000540910.3:c.297C>T(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs116469787	22:30466386	A	ENSG00000100012	ENST00000403066	Transcript	synonymous_variant	635	351	117	G	ggC/ggT	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;EXON=8/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000403066.3:c.351C>T;HGVSp=ENST00000403066.3:c.351C>T(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs116469787	22:30466386	A	ENSG00000100012	ENST00000401751	Transcript	synonymous_variant	604	351	117	G	ggC/ggT	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;EXON=8/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,Superfamily_domains:SSF52087,SMART_domains:SM00516;HGVSc=ENST00000401751.3:c.351C>T;HGVSp=ENST00000401751.3:c.351C>T(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs116469787	22:30466386	A	ENSG00000100012	ENST00000435069	Transcript	synonymous_variant	425	426	142	G	ggC/ggT	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;EXON=5/8;DOMAINS=Pfam_domain:PF00650,Prints_domain:PR00180,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000435069.1:c.425C>T;HGVSp=ENST00000435069.1:c.425C>T(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs116469787	22:30466386	A	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	674	-	-	-	-	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=8/13;HGVSc=ENST00000434642.3:c.*490C>T;GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs116469787	22:30466386	A	ENSG00000100012	ENST00000402286	Transcript	synonymous_variant	774	297	99	G	ggC/ggT	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=9/14;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000402286.3:c.297C>T;HGVSp=ENST00000402286.3:c.297C>T(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs116469787	22:30466386	A	ENSG00000100012	ENST00000215812	Transcript	synonymous_variant	619	528	176	G	ggC/ggT	rs116469787	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;EXON=7/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000215812.6:c.528C>T;HGVSp=ENST00000215812.6:c.528C>T(p.%3D);GMAF=A:0.0014;AFR_MAF=A:0.0041;AMR_MAF=A:0.0028;AA_MAF=A:0.009759;EA_MAF=A:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000540910	Transcript	missense_variant	508	158	53	R/H	cGc/cAc	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.08);PolyPhen=benign(0.067);EXON=5/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000540910.3:c.158G>A;HGVSp=ENSP00000439752.1:p.Arg53His;AA_MAF=T:0.000227;EA_MAF=T:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000403066	Transcript	missense_variant	496	212	71	R/H	cGc/cAc	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;SIFT=tolerated(0.37);PolyPhen=possibly_damaging(0.75);EXON=6/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000403066.3:c.212G>A;HGVSp=ENSP00000385941.1:p.Arg71His;AA_MAF=T:0.000227;EA_MAF=T:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000401751	Transcript	missense_variant	465	212	71	R/H	cGc/cAc	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=tolerated(0.07);PolyPhen=possibly_damaging(0.861);EXON=6/13;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,Superfamily_domains:SSF52087,SMART_domains:SM00516;HGVSc=ENST00000401751.3:c.212G>A;HGVSp=ENSP00000383896.1:p.Arg71His;AA_MAF=T:0.000227;EA_MAF=T:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000435069	Transcript	missense_variant	286	287	96	R/H	cGc/cAc	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;SIFT=tolerated(0.36);PolyPhen=possibly_damaging(0.482);EXON=3/8;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000435069.1:c.286G>A;HGVSp=ENSP00000402986.1:p.Arg96His;AA_MAF=T:0.000227;EA_MAF=T:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	535	-	-	-	-	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=6/13;HGVSc=ENST00000434642.3:c.*351G>A;AA_MAF=T:0.000227;EA_MAF=T:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000402286	Transcript	missense_variant	635	158	53	R/H	cGc/cAc	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.08);PolyPhen=benign(0.067);EXON=7/14;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000402286.3:c.158G>A;HGVSp=ENSP00000385004.1:p.Arg53His;AA_MAF=T:0.000227;EA_MAF=T:0
rs115812777	22:30468542	T	ENSG00000100012	ENST00000215812	Transcript	missense_variant	480	389	130	R/H	cGc/cAc	rs115812777	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(0.12);PolyPhen=possibly_damaging(0.861);EXON=5/12;DOMAINS=Pfam_domain:PF00650,PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000215812.6:c.389G>A;HGVSp=ENSP00000215812.4:p.Arg130His;AA_MAF=T:0.000227;EA_MAF=T:0
rs4820853	22:30468623	G	ENSG00000100012	ENST00000540910	Transcript	missense_variant	427	77	26	I/T	aTt/aCt	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.558);EXON=5/12;DOMAINS=PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000540910.3:c.77T>C;HGVSp=ENSP00000439752.1:p.Ile26Thr;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs4820853	22:30468623	G	ENSG00000100012	ENST00000403066	Transcript	missense_variant	415	131	44	I/T	aTt/aCt	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;SIFT=tolerated(0.06);PolyPhen=benign(0.193);EXON=6/13;DOMAINS=PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000403066.3:c.131T>C;HGVSp=ENSP00000385941.1:p.Ile44Thr;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs4820853	22:30468623	G	ENSG00000100012	ENST00000401751	Transcript	missense_variant	384	131	44	I/T	aTt/aCt	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;SIFT=tolerated(0.08);PolyPhen=benign(0.036);EXON=6/13;DOMAINS=PROSITE_profiles:PS50191,Superfamily_domains:SSF52087,SMART_domains:SM00516;HGVSc=ENST00000401751.3:c.131T>C;HGVSp=ENSP00000383896.1:p.Ile44Thr;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs4820853	22:30468623	G	ENSG00000100012	ENST00000435069	Transcript	missense_variant	205	206	69	I/T	aTt/aCt	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;SIFT=tolerated(0.05);PolyPhen=benign(0.045);EXON=3/8;DOMAINS=PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000435069.1:c.205T>C;HGVSp=ENSP00000402986.1:p.Ile69Thr;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs4820853	22:30468623	G	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	454	-	-	-	-	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=6/13;HGVSc=ENST00000434642.3:c.*270T>C;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs4820853	22:30468623	G	ENSG00000100012	ENST00000402286	Transcript	missense_variant	554	77	26	I/T	aTt/aCt	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.558);EXON=7/14;DOMAINS=PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000402286.3:c.77T>C;HGVSp=ENSP00000385004.1:p.Ile26Thr;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs4820853	22:30468623	G	ENSG00000100012	ENST00000215812	Transcript	missense_variant	399	308	103	I/T	aTt/aCt	rs4820853,COSM4002142,COSM4002143	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(0.07);PolyPhen=benign(0.036);EXON=5/12;DOMAINS=PROSITE_profiles:PS50191,SMART_domains:SM00516,Superfamily_domains:SSF52087;HGVSc=ENST00000215812.6:c.308T>C;HGVSp=ENSP00000215812.4:p.Ile103Thr;GMAF=G:0.4137;AFR_MAF=G:0.49;AMR_MAF=G:0.41;ASN_MAF=G:0.45;EUR_MAF=G:0.34;AA_MAF=G:0.408080;EA_MAF=G:0.334535;SOMATIC=0,1,1
rs115083767	22:30470253	A	ENSG00000100012	ENST00000540910	Transcript	splice_region_variant,5_prime_UTR_variant	82	-	-	-	-	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=2/12;HGVSc=ENST00000540910.3:c.-269C>T;AA_MAF=A:0.001589;EA_MAF=A:0
rs115083767	22:30470253	A	ENSG00000100012	ENST00000403066	Transcript	splice_region_variant,5_prime_UTR_variant	240	-	-	-	-	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;EXON=4/13;HGVSc=ENST00000403066.3:c.-45C>T;AA_MAF=A:0.001589;EA_MAF=A:0
rs115083767	22:30470253	A	ENSG00000100012	ENST00000401751	Transcript	splice_region_variant,5_prime_UTR_variant	209	-	-	-	-	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;EXON=4/13;HGVSc=ENST00000401751.3:c.-45C>T;AA_MAF=A:0.001589;EA_MAF=A:0
rs115083767	22:30470253	A	ENSG00000100012	ENST00000435069	Transcript	intron_variant	-	-	-	-	-	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;INTRON=1/7;HGVSc=ENST00000435069.1:c.72-175C>T;AA_MAF=A:0.001589;EA_MAF=A:0
rs115083767	22:30470253	A	ENSG00000100012	ENST00000434642	Transcript	splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant	279	-	-	-	-	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=4/13;HGVSc=ENST00000434642.3:c.*95C>T;AA_MAF=A:0.001589;EA_MAF=A:0
rs115083767	22:30470253	A	ENSG00000100012	ENST00000402286	Transcript	splice_region_variant,5_prime_UTR_variant	209	-	-	-	-	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=4/14;HGVSc=ENST00000402286.3:c.-269C>T;AA_MAF=A:0.001589;EA_MAF=A:0
rs115083767	22:30470253	A	ENSG00000100012	ENST00000215812	Transcript	missense_variant,splice_region_variant	224	133	45	R/W	Cgg/Tgg	rs115083767	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=deleterious(0.03);PolyPhen=probably_damaging(0.994);EXON=3/12;DOMAINS=Pfam_domain:PF03765,Prints_domain:PR00180,Superfamily_domains:SSF46938;HGVSc=ENST00000215812.6:c.133C>T;HGVSp=ENSP00000215812.4:p.Arg45Trp;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000540910	Transcript	5_prime_UTR_variant	67	-	-	-	-	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000439752;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=1/12;HGVSc=ENST00000540910.3:c.-284C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000215812	Transcript	missense_variant	209	118	40	R/C	Cgc/Tgc	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13877.1;ENSP=ENSP00000215812;SWISSPROT=Q9UDX4;UNIPARC=UPI000000D83C;SIFT=tolerated(0.07);PolyPhen=probably_damaging(1);EXON=2/12;DOMAINS=Pfam_domain:PF03765,Prints_domain:PR00180,Superfamily_domains:SSF46938;HGVSc=ENST00000215812.6:c.118C>T;HGVSp=ENSP00000215812.4:p.Arg40Cys;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000403066	Transcript	5_prime_UTR_variant	225	-	-	-	-	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385941;TREMBL=B5MC44;UNIPARC=UPI000173A320;EXON=3/13;HGVSc=ENST00000403066.3:c.-60C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000401751	Transcript	5_prime_UTR_variant	194	-	-	-	-	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58801.1;ENSP=ENSP00000383896;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A323;EXON=3/13;HGVSc=ENST00000401751.3:c.-60C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000181123	ENST00000610936	Transcript	upstream_gene_variant	-	-	-	-	-	rs116155456	DISTANCE=4845;STRAND=1;SYMBOL=RP4-539M6.14;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;TSL=5;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000402286	Transcript	5_prime_UTR_variant	194	-	-	-	-	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS58800.1;ENSP=ENSP00000385004;SWISSPROT=Q9UDX4;UNIPARC=UPI000173A321;EXON=3/14;HGVSc=ENST00000402286.3:c.-284C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000434642	Transcript	3_prime_UTR_variant,NMD_transcript_variant	264	-	-	-	-	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=nonsense_mediated_decay;TSL=1;ENSP=ENSP00000405055;TREMBL=F8WB08;UNIPARC=UPI000173A322;EXON=3/13;HGVSc=ENST00000434642.3:c.*80C>T;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs116155456	22:30470519	A	ENSG00000100012	ENST00000435069	Transcript	synonymous_variant	59	60	20	Y	taC/taT	rs116155456	STRAND=-1;SYMBOL=SEC14L3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18655;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000402986;UNIPARC=UPI000173A324;EXON=1/8;HGVSc=ENST00000435069.1:c.59C>T;HGVSp=ENST00000435069.1:c.59C>T(p.%3D);GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=A:0.001589;EA_MAF=A:0
rs112976399	22:30555239	T	ENSG00000128242	ENST00000428682	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=678;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389876;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9JKD7;UNIPARC=UPI000173A330;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000401975	Transcript	missense_variant	1189	986	329	R/H	cGc/cAc	rs112976399	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000384388;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.06);PolyPhen=benign(0.052);EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000401975.3:c.986G>A;HGVSp=ENSP00000384388.1:p.Arg329His;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000402369	Transcript	missense_variant	1108	986	329	R/H	cGc/cAc	rs112976399	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;CCDS=CCDS13879.1;ENSP=ENSP00000384122;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.06);PolyPhen=benign(0.052);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402369.3:c.986G>A;HGVSp=ENSP00000384122.1:p.Arg329His;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000406955	Transcript	missense_variant	1031	986	329	R/H	cGc/cAc	rs112976399	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000385825;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.06);PolyPhen=benign(0.052);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406955.3:c.986G>A;HGVSp=ENSP00000385825.1:p.Arg329His;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000426220	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=690;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000414542;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A335;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000406361	Transcript	missense_variant	1227	986	329	R/H	cGc/cAc	rs112976399	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385207;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.06);PolyPhen=benign(0.052);EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406361.3:c.986G>A;HGVSp=ENSP00000385207.1:p.Arg329His;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000441967	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=149;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390545;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A32D;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000447224	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=699;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000412995;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55;UNIPARC=UPI000173A32A;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000423371	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=651;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401074;TREMBL=C9JTV3;UNIPARC=UPI000173A332;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000453479	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=685;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000398380;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A32C;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000445645	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=759;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399649;TREMBL=C9K037,C9JIS3;UNIPARC=UPI000173A334;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000427899	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=498;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000397092;TREMBL=C9JTV3,C9J3S3;UNIPARC=UPI000173A329;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000416358	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=475;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000391485;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A333;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000448604	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=771;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390068;TREMBL=C9JIS3;UNIPARC=UPI000173A331;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000411821	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=731;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000394912;TREMBL=C9K037,C9JIS3,C9JN55;UNIPARC=UPI000173A32E;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000423299	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=539;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391996;TREMBL=C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A337;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000452827	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=259;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405017;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A328;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000431313	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=193;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000395080;TREMBL=C9JTV3,C9JE31,C9J3S3;UNIPARC=UPI000173A32F;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000402321	Transcript	missense_variant	1304	986	329	R/H	cGc/cAc	rs112976399	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385735;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.06);PolyPhen=benign(0.052);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402321.3:c.986G>A;HGVSp=ENSP00000385735.1:p.Arg329His;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000338911	Transcript	missense_variant	1180	986	329	R/H	cGc/cAc	rs112976399	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000343234;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.06);PolyPhen=benign(0.052);EXON=2/2;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000338911.6:c.986G>A;HGVSp=ENSP00000343234.5:p.Arg329His;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000437282	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=388;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401426;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9JYD7;UNIPARC=UPI000173A32B;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs112976399	22:30555239	T	ENSG00000128242	ENST00000443136	Transcript	downstream_gene_variant	-	-	-	-	-	rs112976399	DISTANCE=555;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405381;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A336;GMAF=T:0.0161;AFR_MAF=T:0.06;AMR_MAF=T:0.01;ASN_MAF=T:0.0035;AA_MAF=T:0.046697;EA_MAF=T:0.001876
rs115862749	22:30555417	A	ENSG00000128242	ENST00000428682	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=500;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389876;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9JKD7;UNIPARC=UPI000173A330;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000401975	Transcript	synonymous_variant	1011	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000384388;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000401975.3:c.808C>T;HGVSp=ENST00000401975.3:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000402369	Transcript	synonymous_variant	930	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;CCDS=CCDS13879.1;ENSP=ENSP00000384122;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402369.3:c.808C>T;HGVSp=ENST00000402369.3:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000406955	Transcript	synonymous_variant	853	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000385825;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406955.3:c.808C>T;HGVSp=ENST00000406955.3:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000426220	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=512;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000414542;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A335;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000406361	Transcript	synonymous_variant	1049	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385207;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406361.3:c.808C>T;HGVSp=ENST00000406361.3:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000441967	Transcript	synonymous_variant	865	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390545;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A32D;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000441967.3:c.808C>T;HGVSp=ENST00000441967.3:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000447224	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=521;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000412995;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55;UNIPARC=UPI000173A32A;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000423371	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=473;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401074;TREMBL=C9JTV3;UNIPARC=UPI000173A332;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000453479	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=507;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000398380;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A32C;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000445645	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=581;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399649;TREMBL=C9K037,C9JIS3;UNIPARC=UPI000173A334;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000427899	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=320;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000397092;TREMBL=C9JTV3,C9J3S3;UNIPARC=UPI000173A329;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000416358	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=297;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000391485;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A333;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000448604	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=593;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390068;TREMBL=C9JIS3;UNIPARC=UPI000173A331;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000411821	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=553;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000394912;TREMBL=C9K037,C9JIS3,C9JN55;UNIPARC=UPI000173A32E;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000423299	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=361;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391996;TREMBL=C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A337;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000452827	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=81;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405017;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A328;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000431313	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=15;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000395080;TREMBL=C9JTV3,C9JE31,C9J3S3;UNIPARC=UPI000173A32F;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000402321	Transcript	synonymous_variant	1126	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385735;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402321.3:c.808C>T;HGVSp=ENST00000402321.3:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000338911	Transcript	synonymous_variant	1002	808	270	L	Ctg/Ttg	rs115862749	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000343234;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=2/2;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000338911.6:c.808C>T;HGVSp=ENST00000338911.6:c.808C>T(p.%3D);GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000437282	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=210;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401426;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9JYD7;UNIPARC=UPI000173A32B;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	ENSG00000128242	ENST00000443136	Transcript	downstream_gene_variant	-	-	-	-	-	rs115862749	DISTANCE=377;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405381;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A336;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs115862749	22:30555417	A	-	ENSR00001532159	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs115862749	BIOTYPE=CTCF_binding_site;GMAF=A:0.0078;AFR_MAF=A:0.03;AMR_MAF=A:0.0028;AA_MAF=A:0.017249;EA_MAF=A:0.000233
rs114565111	22:30555495	C	ENSG00000128242	ENST00000428682	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=422;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389876;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9JKD7;UNIPARC=UPI000173A330;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000401975	Transcript	missense_variant	933	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000384388;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.18);PolyPhen=benign(0.009);EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000401975.3:c.730C>G;HGVSp=ENSP00000384388.1:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000402369	Transcript	missense_variant	852	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;CCDS=CCDS13879.1;ENSP=ENSP00000384122;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.18);PolyPhen=benign(0.009);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402369.3:c.730C>G;HGVSp=ENSP00000384122.1:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000406955	Transcript	missense_variant	775	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000385825;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.18);PolyPhen=benign(0.009);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406955.3:c.730C>G;HGVSp=ENSP00000385825.1:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000426220	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=434;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000414542;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A335;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000406361	Transcript	missense_variant	971	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385207;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.18);PolyPhen=benign(0.009);EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406361.3:c.730C>G;HGVSp=ENSP00000385207.1:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000441967	Transcript	missense_variant	787	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390545;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A32D;SIFT=tolerated(0.15);PolyPhen=benign(0.009);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000441967.3:c.730C>G;HGVSp=ENSP00000390545.1:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000447224	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=443;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000412995;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55;UNIPARC=UPI000173A32A;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000423371	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=395;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401074;TREMBL=C9JTV3;UNIPARC=UPI000173A332;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000453479	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=429;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000398380;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A32C;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000445645	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=503;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399649;TREMBL=C9K037,C9JIS3;UNIPARC=UPI000173A334;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000427899	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=242;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000397092;TREMBL=C9JTV3,C9J3S3;UNIPARC=UPI000173A329;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000416358	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=219;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000391485;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A333;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000448604	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=515;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390068;TREMBL=C9JIS3;UNIPARC=UPI000173A331;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000411821	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=475;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000394912;TREMBL=C9K037,C9JIS3,C9JN55;UNIPARC=UPI000173A32E;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000423299	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=283;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391996;TREMBL=C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A337;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000452827	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=3;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405017;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A328;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000431313	Transcript	missense_variant	788	733	245	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000395080;TREMBL=C9JTV3,C9JE31,C9J3S3;UNIPARC=UPI000173A32F;SIFT=tolerated(0.18);PolyPhen=benign(0.015);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000431313.3:c.733C>G;HGVSp=ENSP00000395080.1:p.Arg245Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000402321	Transcript	missense_variant	1048	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385735;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.18);PolyPhen=benign(0.009);EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402321.3:c.730C>G;HGVSp=ENSP00000385735.1:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000338911	Transcript	missense_variant	924	730	244	R/G	Cgt/Ggt	rs114565111	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000343234;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=tolerated(0.18);PolyPhen=benign(0.009);EXON=2/2;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000338911.6:c.730C>G;HGVSp=ENSP00000343234.5:p.Arg244Gly;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000437282	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=132;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401426;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9JYD7;UNIPARC=UPI000173A32B;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	ENSG00000128242	ENST00000443136	Transcript	downstream_gene_variant	-	-	-	-	-	rs114565111	DISTANCE=299;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405381;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A336;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs114565111	22:30555495	C	-	ENSR00001532159	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114565111	BIOTYPE=CTCF_binding_site;GMAF=C:0.0009;AFR_MAF=C:0.0020;EUR_MAF=C:0.0013;AA_MAF=C:0.004766;EA_MAF=C:0
rs112070427	22:30555895	A	ENSG00000128242	ENST00000428682	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=22;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389876;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9JKD7;UNIPARC=UPI000173A330;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000401975	Transcript	synonymous_variant	533	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000384388;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=4/4;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000401975.3:c.330C>T;HGVSp=ENST00000401975.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000402369	Transcript	synonymous_variant	452	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;CCDS=CCDS13879.1;ENSP=ENSP00000384122;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000402369.3:c.330C>T;HGVSp=ENST00000402369.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000406955	Transcript	synonymous_variant	375	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000385825;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000406955.3:c.330C>T;HGVSp=ENST00000406955.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000426220	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=34;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000414542;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A335;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000406361	Transcript	synonymous_variant	571	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385207;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=4/4;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000406361.3:c.330C>T;HGVSp=ENST00000406361.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000441967	Transcript	synonymous_variant	387	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390545;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A32D;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000441967.3:c.330C>T;HGVSp=ENST00000441967.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000447224	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=43;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000412995;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55;UNIPARC=UPI000173A32A;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000423371	Transcript	synonymous_variant	634	333	111	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401074;TREMBL=C9JTV3;UNIPARC=UPI000173A332;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000423371.3:c.333C>T;HGVSp=ENST00000423371.3:c.333C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000453479	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=29;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000398380;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A32C;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000445645	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=103;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399649;TREMBL=C9K037,C9JIS3;UNIPARC=UPI000173A334;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000427899	Transcript	synonymous_variant	375	333	111	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000397092;TREMBL=C9JTV3,C9J3S3;UNIPARC=UPI000173A329;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000427899.3:c.333C>T;HGVSp=ENST00000427899.3:c.333C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000416358	Transcript	synonymous_variant	401	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000391485;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A333;EXON=3/3;DOMAINS=Superfamily_domains:SSF52540,Pfam_domain:PF06990;HGVSc=ENST00000416358.3:c.330C>T;HGVSp=ENST00000416358.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000448604	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=115;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390068;TREMBL=C9JIS3;UNIPARC=UPI000173A331;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000411821	Transcript	downstream_gene_variant	-	-	-	-	-	rs112070427,COSM3405590	DISTANCE=75;STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000394912;TREMBL=C9K037,C9JIS3,C9JN55;UNIPARC=UPI000173A32E;GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000423299	Transcript	synonymous_variant	539	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391996;TREMBL=C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A337;EXON=4/4;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000423299.3:c.330C>T;HGVSp=ENST00000423299.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000452827	Transcript	synonymous_variant	485	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405017;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A328;EXON=4/4;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000452827.3:c.330C>T;HGVSp=ENST00000452827.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000431313	Transcript	synonymous_variant	388	333	111	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000395080;TREMBL=C9JTV3,C9JE31,C9J3S3;UNIPARC=UPI000173A32F;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000431313.3:c.333C>T;HGVSp=ENST00000431313.3:c.333C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000402321	Transcript	synonymous_variant	648	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385735;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000402321.3:c.330C>T;HGVSp=ENST00000402321.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000338911	Transcript	synonymous_variant	524	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000343234;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=2/2;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000338911.6:c.330C>T;HGVSp=ENST00000338911.6:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000437282	Transcript	synonymous_variant	487	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401426;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9JYD7;UNIPARC=UPI000173A32B;EXON=4/4;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000437282.3:c.330C>T;HGVSp=ENST00000437282.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs112070427	22:30555895	A	ENSG00000128242	ENST00000443136	Transcript	synonymous_variant	483	330	110	N	aaC/aaT	rs112070427,COSM3405590	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405381;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A336;EXON=3/3;DOMAINS=Pfam_domain:PF06990,Superfamily_domains:SSF52540;HGVSc=ENST00000443136.3:c.330C>T;HGVSp=ENST00000443136.3:c.330C>T(p.%3D);GMAF=A:0.0101;AFR_MAF=A:0.04;AMR_MAF=A:0.0028;AA_MAF=A:0.036087;EA_MAF=A:0;SOMATIC=0,1
rs116808844	22:30556036	A	ENSG00000128242	ENST00000428682	Transcript	synonymous_variant	434	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389876;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9JKD7;UNIPARC=UPI000173A330;EXON=5/5;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000428682.3:c.189C>T;HGVSp=ENST00000428682.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000401975	Transcript	synonymous_variant	392	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000384388;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000401975.3:c.189C>T;HGVSp=ENST00000401975.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000402369	Transcript	synonymous_variant	311	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;CCDS=CCDS13879.1;ENSP=ENSP00000384122;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402369.3:c.189C>T;HGVSp=ENST00000402369.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000406955	Transcript	synonymous_variant	234	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000385825;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406955.3:c.189C>T;HGVSp=ENST00000406955.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000426220	Transcript	synonymous_variant	456	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000414542;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A335;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000426220.3:c.189C>T;HGVSp=ENST00000426220.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000406361	Transcript	synonymous_variant	430	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385207;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000406361.3:c.189C>T;HGVSp=ENST00000406361.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000441967	Transcript	synonymous_variant	246	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390545;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A32D;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000441967.3:c.189C>T;HGVSp=ENST00000441967.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000447224	Transcript	synonymous_variant	469	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000412995;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55;UNIPARC=UPI000173A32A;EXON=5/5;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000447224.3:c.189C>T;HGVSp=ENST00000447224.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000423371	Transcript	synonymous_variant	493	192	64	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401074;TREMBL=C9JTV3;UNIPARC=UPI000173A332;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000423371.3:c.192C>T;HGVSp=ENST00000423371.3:c.192C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000453479	Transcript	synonymous_variant	527	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000398380;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A32C;EXON=2/2;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000453479.1:c.189C>T;HGVSp=ENST00000453479.1:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000445645	Transcript	synonymous_variant	529	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399649;TREMBL=C9K037,C9JIS3;UNIPARC=UPI000173A334;EXON=5/5;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000445645.3:c.189C>T;HGVSp=ENST00000445645.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000427899	Transcript	synonymous_variant	234	192	64	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000397092;TREMBL=C9JTV3,C9J3S3;UNIPARC=UPI000173A329;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000427899.3:c.192C>T;HGVSp=ENST00000427899.3:c.192C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000416358	Transcript	synonymous_variant	260	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000391485;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A333;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000416358.3:c.189C>T;HGVSp=ENST00000416358.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000448604	Transcript	synonymous_variant	549	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390068;TREMBL=C9JIS3;UNIPARC=UPI000173A331;EXON=6/6;HGVSc=ENST00000448604.1:c.189C>T;HGVSp=ENST00000448604.1:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000411821	Transcript	synonymous_variant	506	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000394912;TREMBL=C9K037,C9JIS3,C9JN55;UNIPARC=UPI000173A32E;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000411821.3:c.189C>T;HGVSp=ENST00000411821.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000423299	Transcript	synonymous_variant	398	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391996;TREMBL=C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A337;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000423299.3:c.189C>T;HGVSp=ENST00000423299.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000452827	Transcript	synonymous_variant	344	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405017;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A328;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000452827.3:c.189C>T;HGVSp=ENST00000452827.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000431313	Transcript	synonymous_variant	247	192	64	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000395080;TREMBL=C9JTV3,C9JE31,C9J3S3;UNIPARC=UPI000173A32F;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000431313.3:c.192C>T;HGVSp=ENST00000431313.3:c.192C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000402321	Transcript	synonymous_variant	507	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385735;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000402321.3:c.189C>T;HGVSp=ENST00000402321.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000338911	Transcript	synonymous_variant	383	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000343234;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;EXON=2/2;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000338911.6:c.189C>T;HGVSp=ENST00000338911.6:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000437282	Transcript	synonymous_variant	346	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401426;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9JYD7;UNIPARC=UPI000173A32B;EXON=4/4;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000437282.3:c.189C>T;HGVSp=ENST00000437282.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs116808844	22:30556036	A	ENSG00000128242	ENST00000443136	Transcript	synonymous_variant	342	189	63	I	atC/atT	rs116808844	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405381;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A336;EXON=3/3;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000443136.3:c.189C>T;HGVSp=ENST00000443136.3:c.189C>T(p.%3D);GMAF=A:0.0064;AFR_MAF=A:0.02;AMR_MAF=A:0.01;ASN_MAF=A:0.0035;AA_MAF=A:0.022354;EA_MAF=A:0.001751
rs2267161	22:30557308	T	ENSG00000128242	ENST00000428682	Transcript	missense_variant	330	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389876;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9JKD7;UNIPARC=UPI000173A330;SIFT=deleterious(0.03);PolyPhen=benign(0.195);EXON=4/5;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000428682.3:c.85G>A;HGVSp=ENSP00000389876.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000401975	Transcript	missense_variant	288	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000384388;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000401975.3:c.85G>A;HGVSp=ENSP00000384388.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000402369	Transcript	missense_variant	207	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;CCDS=CCDS13879.1;ENSP=ENSP00000384122;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=2/3;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000402369.3:c.85G>A;HGVSp=ENSP00000384122.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000406955	Transcript	missense_variant	130	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000385825;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=2/3;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000406955.3:c.85G>A;HGVSp=ENSP00000385825.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000426220	Transcript	missense_variant	352	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000414542;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A335;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Transmembrane_helices:Tmhmm,Pfam_domain:PF06990;HGVSc=ENST00000426220.3:c.85G>A;HGVSp=ENSP00000414542.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000406361	Transcript	missense_variant	326	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385207;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000406361.3:c.85G>A;HGVSp=ENSP00000385207.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000441967	Transcript	missense_variant	142	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000390545;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A32D;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=2/3;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000441967.3:c.85G>A;HGVSp=ENSP00000390545.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000447224	Transcript	missense_variant	365	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000412995;TREMBL=C9K037,C9JU54,C9JIS3,C9JN55;UNIPARC=UPI000173A32A;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=4/5;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000447224.3:c.85G>A;HGVSp=ENSP00000412995.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000423371	Transcript	missense_variant	386	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401074;TREMBL=C9JTV3;UNIPARC=UPI000173A332;SIFT=deleterious(0.03);PolyPhen=benign(0.278);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000423371.3:c.85G>A;HGVSp=ENSP00000401074.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000453479	Transcript	missense_variant	423	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000398380;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JKD7;UNIPARC=UPI000173A32C;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=1/2;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000453479.1:c.85G>A;HGVSp=ENSP00000398380.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000445645	Transcript	missense_variant	425	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399649;TREMBL=C9K037,C9JIS3;UNIPARC=UPI000173A334;SIFT=deleterious(0.04);PolyPhen=benign(0.195);EXON=4/5;DOMAINS=Transmembrane_helices:Tmhmm,Pfam_domain:PF06990;HGVSc=ENST00000445645.3:c.85G>A;HGVSp=ENSP00000399649.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000427899	Transcript	missense_variant	127	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000397092;TREMBL=C9JTV3,C9J3S3;UNIPARC=UPI000173A329;SIFT=deleterious(0.03);PolyPhen=benign(0.278);EXON=2/3;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000427899.3:c.85G>A;HGVSp=ENSP00000397092.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000416358	Transcript	missense_variant	156	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000391485;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A333;SIFT=deleterious(0.03);PolyPhen=benign(0.195);EXON=2/3;DOMAINS=Transmembrane_helices:Tmhmm,Pfam_domain:PF06990;HGVSc=ENST00000416358.3:c.85G>A;HGVSp=ENSP00000391485.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000448604	Transcript	missense_variant	445	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390068;TREMBL=C9JIS3;UNIPARC=UPI000173A331;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=5/6;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000448604.1:c.85G>A;HGVSp=ENSP00000390068.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000411821	Transcript	missense_variant	402	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000394912;TREMBL=C9K037,C9JIS3,C9JN55;UNIPARC=UPI000173A32E;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000411821.3:c.85G>A;HGVSp=ENSP00000394912.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000423299	Transcript	missense_variant	294	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000391996;TREMBL=C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A337;SIFT=deleterious(0.03);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000423299.3:c.85G>A;HGVSp=ENSP00000391996.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000452827	Transcript	missense_variant	240	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405017;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI000173A328;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000452827.3:c.85G>A;HGVSp=ENSP00000405017.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000431313	Transcript	missense_variant	140	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000395080;TREMBL=C9JTV3,C9JE31,C9J3S3;UNIPARC=UPI000173A32F;SIFT=deleterious(0.03);PolyPhen=benign(0.192);EXON=2/3;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000431313.3:c.85G>A;HGVSp=ENSP00000395080.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000402321	Transcript	missense_variant	403	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS13879.1;ENSP=ENSP00000385735;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=2/3;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000402321.3:c.85G>A;HGVSp=ENSP00000385735.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000338911	Transcript	missense_variant	279	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13879.1;ENSP=ENSP00000343234;SWISSPROT=Q99999;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JGL4,C9JIS3,C9JN55,C9JLB5,A0A024R1D7,C9J2M1,C9JKD7,C9J6M2,C9JYD7;UNIPARC=UPI00001285C2;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=1/2;DOMAINS=Pfam_domain:PF06990;HGVSc=ENST00000338911.6:c.85G>A;HGVSp=ENSP00000343234.5:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000437282	Transcript	missense_variant	242	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401426;TREMBL=C9J2X7,C9J4I2,C9K037,C9JU54,C9J993,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7,C9JYD7;UNIPARC=UPI000173A32B;SIFT=deleterious(0.03);PolyPhen=benign(0.195);EXON=3/4;DOMAINS=Pfam_domain:PF06990,Transmembrane_helices:Tmhmm;HGVSc=ENST00000437282.3:c.85G>A;HGVSp=ENSP00000401426.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	ENSG00000128242	ENST00000443136	Transcript	missense_variant	238	85	29	V/M	Gtg/Atg	rs2267161	STRAND=-1;SYMBOL=GAL3ST1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24240;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000405381;TREMBL=C9J4I2,C9K037,C9JU54,C9JIS3,C9JN55,C9JLB5,C9J2M1,C9JKD7;UNIPARC=UPI000173A336;SIFT=deleterious(0.02);PolyPhen=benign(0.195);EXON=2/3;DOMAINS=Transmembrane_helices:Tmhmm,Pfam_domain:PF06990;HGVSc=ENST00000443136.3:c.85G>A;HGVSp=ENSP00000405381.1:p.Val29Met;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs2267161	22:30557308	T	-	ENSR00000616898	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2267161	BIOTYPE=CTCF_binding_site;GMAF=T:0.3168;AFR_MAF=T:0.34;AMR_MAF=T:0.25;ASN_MAF=T:0.34;EUR_MAF=T:0.31;AA_MAF=T:0.373808;EA_MAF=T:0.317674;PUBMED=19587831,24554778
rs113930388	22:31089937	T	ENSG00000183963	ENST00000432777	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1912;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000398663;TREMBL=C9JBH9,C9JGQ0;UNIPARC=UPI000173A2EB;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000455608	Transcript	upstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=2531;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000475548	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1213;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=processed_transcript;TSL=4;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000416786	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=152;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000409990;TREMBL=C9JP19;UNIPARC=UPI000173A2F1;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000466272	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	282	-	-	-	-	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=1/4;HGVSc=ENST00000466272.1:n.282C>T;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000440425	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1332;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401341;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14;UNIPARC=UPI000173A2ED;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000426927	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1363;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399432;TREMBL=C9JBH9,C9JGQ0,C9JV14;UNIPARC=UPI000173A2EE;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000482444	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1346;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000485277;UNIPARC=UPI0004F23685;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	986	-	-	-	-	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=7/20;HGVSc=ENST00000489337.3:n.986C>T;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000612341	Transcript	missense_variant	955	878	293	P/L	cCc/cTc	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=tolerated(0.14);PolyPhen=possibly_damaging(0.908);EXON=6/20;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099;HGVSc=ENST00000612341.2:c.878C>T;HGVSp=ENSP00000479578.1:p.Pro293Leu;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000438223	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1057;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000409925;TREMBL=C9JGQ0;UNIPARC=UPI0004F236C2;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000619644	Transcript	missense_variant	933	872	291	P/L	cCc/cTc	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=tolerated(0.27);PolyPhen=benign(0.014);EXON=7/21;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099;HGVSc=ENST00000619644.2:c.872C>T;HGVSp=ENSP00000484398.1:p.Pro291Leu;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000404574	Transcript	upstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=3421;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	522	-	-	-	-	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=5/15;HGVSc=ENST00000460658.3:n.522C>T;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000497697	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1684;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000493335	Transcript	upstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=3431;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000333137	Transcript	missense_variant	928	710	237	P/L	cCc/cTc	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=tolerated(0.28);PolyPhen=benign(0.004);EXON=7/21;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099;HGVSc=ENST00000333137.9:c.710C>T;HGVSp=ENSP00000329532.7:p.Pro237Leu;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000358743	Transcript	missense_variant	928	710	237	P/L	cCc/cTc	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=tolerated(0.27);PolyPhen=benign(0.005);EXON=7/21;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099;HGVSc=ENST00000358743.3:c.710C>T;HGVSp=ENSP00000351593.1:p.Pro237Leu;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000422839	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=1913;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390453;TREMBL=C9JGQ0;UNIPARC=UPI000173A2EC;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000347557	Transcript	missense_variant	928	710	237	P/L	cCc/cTc	rs113930388	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=tolerated(0.29);PolyPhen=benign(0.015);EXON=7/20;DOMAINS=Low_complexity_(Seg):Seg,PROSITE_profiles:PS50099;HGVSc=ENST00000347557.4:c.710C>T;HGVSp=ENSP00000328635.5:p.Pro237Leu;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs113930388	22:31089937	T	ENSG00000183963	ENST00000431481	Transcript	downstream_gene_variant	-	-	-	-	-	rs113930388	DISTANCE=212;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000394637;TREMBL=C9JQZ8;UNIPARC=UPI000173A2F0;GMAF=T:0.0115;AFR_MAF=T:0.05;AMR_MAF=T:0.0028;AA_MAF=T:0.033698;EA_MAF=T:0.000116
rs11913728	22:31091696	T	ENSG00000183963	ENST00000624247	Transcript	upstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3864;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000432777	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3671;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000398663;TREMBL=C9JBH9,C9JGQ0;UNIPARC=UPI000173A2EB;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000455608	Transcript	upstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=772;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000475548	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=2972;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=processed_transcript;TSL=4;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000416786	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=1911;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000409990;TREMBL=C9JP19;UNIPARC=UPI000173A2F1;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000466272	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=669;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000440425	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3091;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401341;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14;UNIPARC=UPI000173A2ED;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000426927	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3122;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399432;TREMBL=C9JBH9,C9JGQ0,C9JV14;UNIPARC=UPI000173A2EE;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000482444	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3105;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000485277;UNIPARC=UPI0004F23685;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1757	-	-	-	-	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=11/20;HGVSc=ENST00000489337.3:n.1757C>T;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000612341	Transcript	missense_variant	1726	1649	550	A/V	gCg/gTg	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.75);EXON=10/20;HGVSc=ENST00000612341.2:c.1649C>T;HGVSp=ENSP00000479578.1:p.Ala550Val;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000438223	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=2816;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000409925;TREMBL=C9JGQ0;UNIPARC=UPI0004F236C2;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000619644	Transcript	missense_variant	1704	1643	548	A/V	gCg/gTg	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.733);EXON=11/21;HGVSc=ENST00000619644.2:c.1643C>T;HGVSp=ENSP00000484398.1:p.Ala548Val;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000404574	Transcript	upstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=1662;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1293	-	-	-	-	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=9/15;HGVSc=ENST00000460658.3:n.1293C>T;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000497697	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3443;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000493335	Transcript	upstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=1672;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000333137	Transcript	missense_variant	1699	1481	494	A/V	gCg/gTg	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=deleterious(0);PolyPhen=benign(0.151);EXON=11/21;HGVSc=ENST00000333137.9:c.1481C>T;HGVSp=ENSP00000329532.7:p.Ala494Val;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000358743	Transcript	missense_variant	1699	1481	494	A/V	gCg/gTg	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=deleterious(0);PolyPhen=benign(0.331);EXON=11/21;HGVSc=ENST00000358743.3:c.1481C>T;HGVSp=ENSP00000351593.1:p.Ala494Val;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000422839	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=3672;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390453;TREMBL=C9JGQ0;UNIPARC=UPI000173A2EC;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000347557	Transcript	missense_variant	1699	1481	494	A/V	gCg/gTg	rs11913728	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=deleterious(0);PolyPhen=benign(0.231);EXON=11/20;HGVSc=ENST00000347557.4:c.1481C>T;HGVSp=ENSP00000328635.5:p.Ala494Val;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs11913728	22:31091696	T	ENSG00000183963	ENST00000431481	Transcript	downstream_gene_variant	-	-	-	-	-	rs11913728	DISTANCE=1971;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000394637;TREMBL=C9JQZ8;UNIPARC=UPI000173A2F0;GMAF=T:0.0096;AFR_MAF=T:0.04;AA_MAF=T:0.037222;EA_MAF=T:0.000233
rs116593437	22:31091747	A	ENSG00000183963	ENST00000624247	Transcript	upstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3813;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000432777	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3722;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000398663;TREMBL=C9JBH9,C9JGQ0;UNIPARC=UPI000173A2EB;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000455608	Transcript	upstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=721;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000475548	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3023;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=processed_transcript;TSL=4;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000416786	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=1962;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000409990;TREMBL=C9JP19;UNIPARC=UPI000173A2F1;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000466272	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=720;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000440425	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3142;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401341;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14;UNIPARC=UPI000173A2ED;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000426927	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3173;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399432;TREMBL=C9JBH9,C9JGQ0,C9JV14;UNIPARC=UPI000173A2EE;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000482444	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3156;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000485277;UNIPARC=UPI0004F23685;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1808	-	-	-	-	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=11/20;HGVSc=ENST00000489337.3:n.1808G>A;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000612341	Transcript	missense_variant	1777	1700	567	R/H	cGt/cAt	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=tolerated(1);PolyPhen=benign(0);EXON=10/20;HGVSc=ENST00000612341.2:c.1700G>A;HGVSp=ENSP00000479578.1:p.Arg567His;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000438223	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=2867;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000409925;TREMBL=C9JGQ0;UNIPARC=UPI0004F236C2;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000619644	Transcript	missense_variant	1755	1694	565	R/H	cGt/cAt	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=tolerated(1);PolyPhen=benign(0.004);EXON=11/21;HGVSc=ENST00000619644.2:c.1694G>A;HGVSp=ENSP00000484398.1:p.Arg565His;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000404574	Transcript	upstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=1611;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1344	-	-	-	-	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=9/15;HGVSc=ENST00000460658.3:n.1344G>A;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000497697	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3494;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000493335	Transcript	upstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=1621;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000333137	Transcript	missense_variant	1750	1532	511	R/H	cGt/cAt	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=tolerated(0.94);PolyPhen=benign(0.001);EXON=11/21;HGVSc=ENST00000333137.9:c.1532G>A;HGVSp=ENSP00000329532.7:p.Arg511His;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000358743	Transcript	missense_variant	1750	1532	511	R/H	cGt/cAt	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=tolerated(1);PolyPhen=benign(0.001);EXON=11/21;HGVSc=ENST00000358743.3:c.1532G>A;HGVSp=ENSP00000351593.1:p.Arg511His;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000422839	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=3723;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390453;TREMBL=C9JGQ0;UNIPARC=UPI000173A2EC;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000347557	Transcript	missense_variant	1750	1532	511	R/H	cGt/cAt	rs116593437	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=tolerated(1);PolyPhen=benign(0.001);EXON=11/20;HGVSc=ENST00000347557.4:c.1532G>A;HGVSp=ENSP00000328635.5:p.Arg511His;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs116593437	22:31091747	A	ENSG00000183963	ENST00000431481	Transcript	downstream_gene_variant	-	-	-	-	-	rs116593437	DISTANCE=2022;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000394637;TREMBL=C9JQZ8;UNIPARC=UPI000173A2F0;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.009310;EA_MAF=A:0
rs114015937	22:31091807	A	ENSG00000183963	ENST00000624247	Transcript	upstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3753;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000432777	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3782;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000398663;TREMBL=C9JBH9,C9JGQ0;UNIPARC=UPI000173A2EB;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000455608	Transcript	upstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=661;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000475548	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3083;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=processed_transcript;TSL=4;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000416786	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=2022;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000409990;TREMBL=C9JP19;UNIPARC=UPI000173A2F1;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000466272	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=780;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000440425	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3202;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401341;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14;UNIPARC=UPI000173A2ED;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000426927	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3233;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399432;TREMBL=C9JBH9,C9JGQ0,C9JV14;UNIPARC=UPI000173A2EE;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000482444	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3216;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000485277;UNIPARC=UPI0004F23685;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1868	-	-	-	-	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=11/20;HGVSc=ENST00000489337.3:n.1868G>A;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000612341	Transcript	missense_variant	1837	1760	587	S/N	aGc/aAc	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=tolerated(0.12);PolyPhen=possibly_damaging(0.483);EXON=10/20;HGVSc=ENST00000612341.2:c.1760G>A;HGVSp=ENSP00000479578.1:p.Ser587Asn;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000438223	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=2927;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000409925;TREMBL=C9JGQ0;UNIPARC=UPI0004F236C2;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000619644	Transcript	missense_variant	1815	1754	585	S/N	aGc/aAc	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.673);EXON=11/21;HGVSc=ENST00000619644.2:c.1754G>A;HGVSp=ENSP00000484398.1:p.Ser585Asn;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000404574	Transcript	upstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=1551;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1404	-	-	-	-	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=9/15;HGVSc=ENST00000460658.3:n.1404G>A;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000497697	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3554;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000493335	Transcript	upstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=1561;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000333137	Transcript	missense_variant	1810	1592	531	S/N	aGc/aAc	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=tolerated(0.22);PolyPhen=probably_damaging(0.979);EXON=11/21;HGVSc=ENST00000333137.9:c.1592G>A;HGVSp=ENSP00000329532.7:p.Ser531Asn;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000358743	Transcript	missense_variant	1810	1592	531	S/N	aGc/aAc	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=tolerated(0.22);PolyPhen=benign(0.376);EXON=11/21;HGVSc=ENST00000358743.3:c.1592G>A;HGVSp=ENSP00000351593.1:p.Ser531Asn;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000422839	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=3783;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390453;TREMBL=C9JGQ0;UNIPARC=UPI000173A2EC;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000347557	Transcript	missense_variant	1810	1592	531	S/N	aGc/aAc	rs114015937	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=tolerated(0.21);PolyPhen=possibly_damaging(0.474);EXON=11/20;HGVSc=ENST00000347557.4:c.1592G>A;HGVSp=ENSP00000328635.5:p.Ser531Asn;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs114015937	22:31091807	A	ENSG00000183963	ENST00000431481	Transcript	downstream_gene_variant	-	-	-	-	-	rs114015937	DISTANCE=2082;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000394637;TREMBL=C9JQZ8;UNIPARC=UPI000173A2F0;GMAF=A:0.0005;AFR_MAF=A:0.0020
rs115143483	22:31091828	A	ENSG00000183963	ENST00000624247	Transcript	upstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3732;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000432777	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3803;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000398663;TREMBL=C9JBH9,C9JGQ0;UNIPARC=UPI000173A2EB;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000455608	Transcript	upstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=640;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000475548	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3104;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=processed_transcript;TSL=4;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000416786	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=2043;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000409990;TREMBL=C9JP19;UNIPARC=UPI000173A2F1;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000466272	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=801;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000440425	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3223;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000401341;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14;UNIPARC=UPI000173A2ED;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000426927	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3254;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000399432;TREMBL=C9JBH9,C9JGQ0,C9JV14;UNIPARC=UPI000173A2EE;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000482444	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3237;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000485277;UNIPARC=UPI0004F23685;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1889	-	-	-	-	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=11/20;HGVSc=ENST00000489337.3:n.1889G>A;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000612341	Transcript	missense_variant	1858	1781	594	R/Q	cGa/cAa	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=tolerated(0.26);PolyPhen=possibly_damaging(0.602);EXON=10/20;HGVSc=ENST00000612341.2:c.1781G>A;HGVSp=ENSP00000479578.1:p.Arg594Gln;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000438223	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=2948;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000409925;TREMBL=C9JGQ0;UNIPARC=UPI0004F236C2;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000619644	Transcript	missense_variant	1836	1775	592	R/Q	cGa/cAa	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=tolerated(0.25);PolyPhen=benign(0.248);EXON=11/21;HGVSc=ENST00000619644.2:c.1775G>A;HGVSp=ENSP00000484398.1:p.Arg592Gln;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000404574	Transcript	upstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=1530;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1425	-	-	-	-	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=9/15;HGVSc=ENST00000460658.3:n.1425G>A;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000497697	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3575;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000493335	Transcript	upstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=1540;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000333137	Transcript	missense_variant	1831	1613	538	R/Q	cGa/cAa	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=tolerated(0.21);PolyPhen=probably_damaging(0.986);EXON=11/21;HGVSc=ENST00000333137.9:c.1613G>A;HGVSp=ENSP00000329532.7:p.Arg538Gln;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000358743	Transcript	missense_variant	1831	1613	538	R/Q	cGa/cAa	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=tolerated(0.2);PolyPhen=benign(0.012);EXON=11/21;HGVSc=ENST00000358743.3:c.1613G>A;HGVSp=ENSP00000351593.1:p.Arg538Gln;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000422839	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=3804;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000390453;TREMBL=C9JGQ0;UNIPARC=UPI000173A2EC;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000347557	Transcript	missense_variant	1831	1613	538	R/Q	cGa/cAa	rs115143483	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=tolerated(0.21);PolyPhen=benign(0.012);EXON=11/20;HGVSc=ENST00000347557.4:c.1613G>A;HGVSp=ENSP00000328635.5:p.Arg538Gln;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs115143483	22:31091828	A	ENSG00000183963	ENST00000431481	Transcript	downstream_gene_variant	-	-	-	-	-	rs115143483	DISTANCE=2103;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000394637;TREMBL=C9JQZ8;UNIPARC=UPI000173A2F0;GMAF=A:0.0028;AFR_MAF=A:0.01;AA_MAF=A:0.005906;EA_MAF=A:0
rs3205187	22:31095309	C	ENSG00000183963	ENST00000624247	Transcript	upstream_gene_variant	-	-	-	-	-	rs3205187	DISTANCE=251;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000455608	Transcript	missense_variant	70	70	24	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;SIFT=tolerated(0.3);PolyPhen=unknown(0);EXON=2/6;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000455608.3:c.70G>C;HGVSp=ENSP00000392329.1:p.Ala24Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000472911	Transcript	upstream_gene_variant	-	-	-	-	-	rs3205187	DISTANCE=4353;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000466272	Transcript	downstream_gene_variant	-	-	-	-	-	rs3205187	DISTANCE=4282;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000493335	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	411	-	-	-	-	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=3/11;HGVSc=ENST00000493335.3:n.411G>C;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000333137	Transcript	missense_variant	1857	1639	547	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=tolerated(1);PolyPhen=benign(0);EXON=12/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000333137.9:c.1639G>C;HGVSp=ENSP00000329532.7:p.Ala547Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1915	-	-	-	-	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=12/20;HGVSc=ENST00000489337.3:n.1915G>C;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000612341	Transcript	missense_variant	1884	1807	603	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=tolerated(1);PolyPhen=benign(0);EXON=11/20;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000612341.2:c.1807G>C;HGVSp=ENSP00000479578.1:p.Ala603Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000358743	Transcript	missense_variant	1857	1639	547	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=tolerated(1);PolyPhen=benign(0);EXON=12/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000358743.3:c.1639G>C;HGVSp=ENSP00000351593.1:p.Ala547Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000619644	Transcript	missense_variant	1955	1894	632	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=tolerated(1);PolyPhen=benign(0);EXON=13/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000619644.2:c.1894G>C;HGVSp=ENSP00000484398.1:p.Ala632Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000404574	Transcript	missense_variant	526	436	146	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;SIFT=tolerated(0.71);PolyPhen=benign(0);EXON=2/9;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000404574.3:c.436G>C;HGVSp=ENSP00000383919.1:p.Ala146Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000347557	Transcript	missense_variant	1857	1639	547	A/P	Gca/Cca	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=tolerated(1);PolyPhen=benign(0);EXON=12/20;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000347557.4:c.1639G>C;HGVSp=ENSP00000328635.5:p.Ala547Pro;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs3205187	22:31095309	C	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1451	-	-	-	-	rs3205187	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=10/15;HGVSc=ENST00000460658.3:n.1451G>C;GMAF=C:0.4757;AFR_MAF=C:0.54;AMR_MAF=C:0.56;ASN_MAF=C:0.10;EUR_MAF=C:0.67;AA_MAF=C:0.497049;EA_MAF=C:0.663605
rs5997872	22:31095346	T	ENSG00000183963	ENST00000624247	Transcript	upstream_gene_variant	-	-	-	-	-	rs5997872	DISTANCE=214;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000455608	Transcript	missense_variant	107	107	36	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;SIFT=tolerated(0.37);PolyPhen=unknown(0);EXON=2/6;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000455608.3:c.107C>T;HGVSp=ENSP00000392329.1:p.Ala36Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000472911	Transcript	upstream_gene_variant	-	-	-	-	-	rs5997872	DISTANCE=4316;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000466272	Transcript	downstream_gene_variant	-	-	-	-	-	rs5997872	DISTANCE=4319;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000493335	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	448	-	-	-	-	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=3/11;HGVSc=ENST00000493335.3:n.448C>T;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000333137	Transcript	missense_variant	1894	1676	559	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=tolerated(0.41);PolyPhen=benign(0.003);EXON=12/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000333137.9:c.1676C>T;HGVSp=ENSP00000329532.7:p.Ala559Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1952	-	-	-	-	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=12/20;HGVSc=ENST00000489337.3:n.1952C>T;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000612341	Transcript	missense_variant	1921	1844	615	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=tolerated(0.46);PolyPhen=benign(0.004);EXON=11/20;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000612341.2:c.1844C>T;HGVSp=ENSP00000479578.1:p.Ala615Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000358743	Transcript	missense_variant	1894	1676	559	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=tolerated(0.44);PolyPhen=benign(0.001);EXON=12/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000358743.3:c.1676C>T;HGVSp=ENSP00000351593.1:p.Ala559Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000619644	Transcript	missense_variant	1992	1931	644	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=tolerated(0.97);PolyPhen=benign(0.002);EXON=13/21;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000619644.2:c.1931C>T;HGVSp=ENSP00000484398.1:p.Ala644Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000404574	Transcript	missense_variant	563	473	158	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;SIFT=tolerated(0.49);PolyPhen=benign(0.009);EXON=2/9;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000404574.3:c.473C>T;HGVSp=ENSP00000383919.1:p.Ala158Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000347557	Transcript	missense_variant	1894	1676	559	A/V	gCg/gTg	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=tolerated(0.41);PolyPhen=benign(0.003);EXON=12/20;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000347557.4:c.1676C>T;HGVSp=ENSP00000328635.5:p.Ala559Val;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs5997872	22:31095346	T	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1488	-	-	-	-	rs5997872	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=10/15;HGVSc=ENST00000460658.3:n.1488C>T;GMAF=T:0.1414;AFR_MAF=T:0.18;AMR_MAF=T:0.12;ASN_MAF=T:0.08;EUR_MAF=T:0.18;AA_MAF=T:0.175443;EA_MAF=T:0.168140;PUBMED=23033319
rs34292278	22:31096795	T	ENSG00000183963	ENST00000624247	Transcript	missense_variant	113	115	39	R/C	Cgc/Tgc	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;SIFT=deleterious(0);PolyPhen=probably_damaging(0.949);EXON=2/9;HGVSc=ENST00000624247.1:c.113C>T;HGVSp=ENSP00000485089.1:p.Arg39Cys;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000455608	Transcript	intron_variant	-	-	-	-	-	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;INTRON=3/5;HGVSc=ENST00000455608.3:c.293-474C>T;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000472911	Transcript	upstream_gene_variant	-	-	-	-	-	rs34292278	DISTANCE=2867;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000493335	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1577	-	-	-	-	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=5/11;HGVSc=ENST00000493335.3:n.1577C>T;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000333137	Transcript	missense_variant	2142	1924	642	R/C	Cgc/Tgc	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.656);EXON=14/21;HGVSc=ENST00000333137.9:c.1924C>T;HGVSp=ENSP00000329532.7:p.Arg642Cys;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2200	-	-	-	-	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=14/20;HGVSc=ENST00000489337.3:n.2200C>T;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000612341	Transcript	missense_variant	2169	2092	698	R/C	Cgc/Tgc	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;SIFT=deleterious(0);PolyPhen=benign(0.095);EXON=13/20;HGVSc=ENST00000612341.2:c.2092C>T;HGVSp=ENSP00000479578.1:p.Arg698Cys;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000358743	Transcript	missense_variant	2142	1924	642	R/C	Cgc/Tgc	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.776);EXON=14/21;HGVSc=ENST00000358743.3:c.1924C>T;HGVSp=ENSP00000351593.1:p.Arg642Cys;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000619644	Transcript	missense_variant	2240	2179	727	R/C	Cgc/Tgc	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.888);EXON=15/21;HGVSc=ENST00000619644.2:c.2179C>T;HGVSp=ENSP00000484398.1:p.Arg727Cys;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000404574	Transcript	intron_variant	-	-	-	-	-	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;INTRON=3/8;HGVSc=ENST00000404574.3:c.659-474C>T;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000347557	Transcript	missense_variant	2142	1924	642	R/C	Cgc/Tgc	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.677);EXON=14/20;HGVSc=ENST00000347557.4:c.1924C>T;HGVSp=ENSP00000328635.5:p.Arg642Cys;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs34292278	22:31096795	T	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2937	-	-	-	-	rs34292278	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=10/15;HGVSc=ENST00000460658.3:n.2937C>T;GMAF=T:0.0560;AFR_MAF=T:0.23;AMR_MAF=T:0.02;AA_MAF=T:0.213799;EA_MAF=T:0.000465
rs116641021	22:31096797	T	ENSG00000183963	ENST00000624247	Transcript	synonymous_variant	115	117	39	R	cgC/cgT	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;ENSP=ENSP00000485089;UNIPARC=UPI0004F23663;EXON=2/9;HGVSc=ENST00000624247.1:c.115C>T;HGVSp=ENST00000624247.1:c.115C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000455608	Transcript	intron_variant	-	-	-	-	-	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000392329;TREMBL=H7BZZ8;UNIPARC=UPI000173A2F2;INTRON=3/5;HGVSc=ENST00000455608.3:c.293-472C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000472911	Transcript	upstream_gene_variant	-	-	-	-	-	rs116641021	DISTANCE=2865;STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000493335	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1579	-	-	-	-	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=5/11;HGVSc=ENST00000493335.3:n.1579C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000333137	Transcript	synonymous_variant	2144	1926	642	R	cgC/cgT	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13888.1;ENSP=ENSP00000329532;SWISSPROT=P53814;TREMBL=B3KTQ6,C9JGQ0,C9JP19;UNIPARC=UPI00000705CD;EXON=14/21;HGVSc=ENST00000333137.9:c.1926C>T;HGVSp=ENST00000333137.9:c.1926C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000489337	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2202	-	-	-	-	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=2;EXON=14/20;HGVSc=ENST00000489337.3:n.2202C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000612341	Transcript	synonymous_variant	2171	2094	698	R	cgC/cgT	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS74846.1;ENSP=ENSP00000479578;TREMBL=B3KTQ6,C9JP19;UNIPARC=UPI0001AE6335;EXON=13/20;HGVSc=ENST00000612341.2:c.2094C>T;HGVSp=ENST00000612341.2:c.2094C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000358743	Transcript	synonymous_variant	2144	1926	642	R	cgC/cgT	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS13887.1;ENSP=ENSP00000351593;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI00001B0272;EXON=14/21;HGVSc=ENST00000358743.3:c.1926C>T;HGVSp=ENST00000358743.3:c.1926C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000619644	Transcript	synonymous_variant	2242	2181	727	R	cgC/cgT	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS74845.1;ENSP=ENSP00000484398;TREMBL=C9JBH9,C9JGQ0,C9JYU8,C9JV14,C9JP19;UNIPARC=UPI00020D8FA0;EXON=15/21;HGVSc=ENST00000619644.2:c.2181C>T;HGVSp=ENST00000619644.2:c.2181C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000404574	Transcript	intron_variant	-	-	-	-	-	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000383919;TREMBL=B5MCI0,B3KTQ6;UNIPARC=UPI000173A2E9;INTRON=3/8;HGVSc=ENST00000404574.3:c.659-472C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000347557	Transcript	synonymous_variant	2144	1926	642	R	cgC/cgT	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13886.1;ENSP=ENSP00000328635;SWISSPROT=P53814;TREMBL=C9JGQ0,C9JP19;UNIPARC=UPI000015FD9B;EXON=14/20;HGVSc=ENST00000347557.4:c.1926C>T;HGVSp=ENST00000347557.4:c.1926C>T(p.%3D);GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs116641021	22:31096797	T	ENSG00000183963	ENST00000460658	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	2939	-	-	-	-	rs116641021	STRAND=1;SYMBOL=SMTN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11126;BIOTYPE=retained_intron;TSL=5;EXON=10/15;HGVSc=ENST00000460658.3:n.2939C>T;GMAF=T:0.0092;AFR_MAF=T:0.04;EUR_MAF=T:0.0013;AA_MAF=T:0.039946;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000333611	Transcript	synonymous_variant	840	525	175	N	aaC/aaT	rs5997927	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13892.1;ENSP=ENSP00000330470;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1M2;UNIPARC=UPI00000703D1;EXON=5/15;DOMAINS=Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156;HGVSc=ENST00000333611.6:c.525C>T;HGVSp=ENST00000333611.6:c.525C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000465937	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	498	-	-	-	-	rs5997927	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=3;EXON=3/5;HGVSc=ENST00000465937.1:n.498C>T;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000331728	Transcript	synonymous_variant	702	588	196	N	aaC/aaT	rs5997927	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13891.1;ENSP=ENSP00000332687;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1H6;UNIPARC=UPI00000534BD;EXON=6/16;DOMAINS=Pfam_domain:PF00595,SMART_domains:SM00228,PROSITE_profiles:PS50106,Superfamily_domains:SSF50156;HGVSc=ENST00000331728.6:c.588C>T;HGVSp=ENST00000331728.6:c.588C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000462625	Transcript	downstream_gene_variant	-	-	-	-	-	rs5997927	DISTANCE=3124;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=2;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000340552	Transcript	synonymous_variant	755	525	175	N	aaC/aaT	rs5997927	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33637.1;ENSP=ENSP00000339916;SWISSPROT=P53671;TREMBL=B5MC51;UNIPARC=UPI0000169F37;EXON=5/15;DOMAINS=Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156;HGVSc=ENST00000340552.4:c.525C>T;HGVSp=ENST00000340552.4:c.525C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000425203	Transcript	downstream_gene_variant	-	-	-	-	-	rs5997927	DISTANCE=3686;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000388422;TREMBL=C9JK61;UNIPARC=UPI000173A2F8;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs5997927	22:31262170	T	ENSG00000182541	ENST00000406516	Transcript	synonymous_variant	623	354	118	N	aaC/aaT	rs5997927	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384602;TREMBL=B5MC51;UNIPARC=UPI000173A2F6;EXON=5/15;DOMAINS=Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156;HGVSc=ENST00000406516.3:c.354C>T;HGVSp=ENST00000406516.3:c.354C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001135;EA_MAF=T:0
rs2228619	22:31267856	G	ENSG00000182541	ENST00000333611	Transcript	synonymous_variant	1461	1146	382	L	ctC/ctG	rs2228619	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13892.1;ENSP=ENSP00000330470;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1M2;UNIPARC=UPI00000703D1;EXON=9/15;DOMAINS=Pfam_domain:PF07714,Pfam_domain:PF00069,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000333611.6:c.1146C>G;HGVSp=ENST00000333611.6:c.1146C>G(p.%3D);GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs2228619	22:31267856	G	ENSG00000182541	ENST00000482270	Transcript	upstream_gene_variant	-	-	-	-	-	rs2228619	DISTANCE=4615;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=2;GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs2228619	22:31267856	G	ENSG00000182541	ENST00000465937	Transcript	downstream_gene_variant	-	-	-	-	-	rs2228619	DISTANCE=1724;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=3;GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs2228619	22:31267856	G	ENSG00000182541	ENST00000331728	Transcript	synonymous_variant	1323	1209	403	L	ctC/ctG	rs2228619	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13891.1;ENSP=ENSP00000332687;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1H6;UNIPARC=UPI00000534BD;EXON=10/16;DOMAINS=Pfam_domain:PF07714,Pfam_domain:PF00069,SMART_domains:SM00220,SMART_domains:SM00219,PROSITE_profiles:PS50011,Superfamily_domains:SSF56112;HGVSc=ENST00000331728.6:c.1209C>G;HGVSp=ENST00000331728.6:c.1209C>G(p.%3D);GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs2228619	22:31267856	G	ENSG00000182541	ENST00000340552	Transcript	synonymous_variant	1376	1146	382	L	ctC/ctG	rs2228619	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33637.1;ENSP=ENSP00000339916;SWISSPROT=P53671;TREMBL=B5MC51;UNIPARC=UPI0000169F37;EXON=9/15;DOMAINS=Pfam_domain:PF00069,Pfam_domain:PF07714,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000340552.4:c.1146C>G;HGVSp=ENST00000340552.4:c.1146C>G(p.%3D);GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs2228619	22:31267856	G	ENSG00000182541	ENST00000406516	Transcript	synonymous_variant	1244	975	325	L	ctC/ctG	rs2228619	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384602;TREMBL=B5MC51;UNIPARC=UPI000173A2F6;EXON=9/15;DOMAINS=Pfam_domain:PF00069,Pfam_domain:PF07714,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000406516.3:c.975C>G;HGVSp=ENST00000406516.3:c.975C>G(p.%3D);GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs2228619	22:31267856	G	ENSG00000182541	ENST00000467301	Transcript	upstream_gene_variant	-	-	-	-	-	rs2228619	DISTANCE=4818;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=processed_transcript;TSL=3;GMAF=C:0.1777;AFR_MAF=G:0.98;AMR_MAF=G:0.76;ASN_MAF=G:0.87;EUR_MAF=G:0.71;AA_MAF=G:0.945302;EA_MAF=G:0.724767
rs114531016	22:31267889	A	ENSG00000182541	ENST00000333611	Transcript	synonymous_variant	1494	1179	393	K	aaG/aaA	rs114531016	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13892.1;ENSP=ENSP00000330470;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1M2;UNIPARC=UPI00000703D1;EXON=9/15;DOMAINS=Pfam_domain:PF07714,Pfam_domain:PF00069,Prints_domain:PR00109,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000333611.6:c.1179G>A;HGVSp=ENST00000333611.6:c.1179G>A(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs114531016	22:31267889	A	ENSG00000182541	ENST00000482270	Transcript	upstream_gene_variant	-	-	-	-	-	rs114531016	DISTANCE=4582;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=2;GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs114531016	22:31267889	A	ENSG00000182541	ENST00000465937	Transcript	downstream_gene_variant	-	-	-	-	-	rs114531016	DISTANCE=1757;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=3;GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs114531016	22:31267889	A	ENSG00000182541	ENST00000331728	Transcript	synonymous_variant	1356	1242	414	K	aaG/aaA	rs114531016	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13891.1;ENSP=ENSP00000332687;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1H6;UNIPARC=UPI00000534BD;EXON=10/16;DOMAINS=Pfam_domain:PF07714,Pfam_domain:PF00069,SMART_domains:SM00220,SMART_domains:SM00219,Prints_domain:PR00109,PROSITE_profiles:PS50011,Superfamily_domains:SSF56112;HGVSc=ENST00000331728.6:c.1242G>A;HGVSp=ENST00000331728.6:c.1242G>A(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs114531016	22:31267889	A	ENSG00000182541	ENST00000340552	Transcript	synonymous_variant	1409	1179	393	K	aaG/aaA	rs114531016	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33637.1;ENSP=ENSP00000339916;SWISSPROT=P53671;TREMBL=B5MC51;UNIPARC=UPI0000169F37;EXON=9/15;DOMAINS=Pfam_domain:PF00069,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000340552.4:c.1179G>A;HGVSp=ENST00000340552.4:c.1179G>A(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs114531016	22:31267889	A	ENSG00000182541	ENST00000406516	Transcript	synonymous_variant	1277	1008	336	K	aaG/aaA	rs114531016	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384602;TREMBL=B5MC51;UNIPARC=UPI000173A2F6;EXON=9/15;DOMAINS=Pfam_domain:PF00069,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000406516.3:c.1008G>A;HGVSp=ENST00000406516.3:c.1008G>A(p.%3D);GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs114531016	22:31267889	A	ENSG00000182541	ENST00000467301	Transcript	upstream_gene_variant	-	-	-	-	-	rs114531016	DISTANCE=4785;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0184;AFR_MAF=A:0.08;AA_MAF=A:0.060372;EA_MAF=A:0.000116
rs79923828	22:31278313	C	ENSG00000182541	ENST00000333611	Transcript	synonymous_variant	2041	1726	576	L	Ttg/Ctg	rs79923828	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13892.1;ENSP=ENSP00000330470;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1M2;UNIPARC=UPI00000703D1;EXON=15/15;DOMAINS=Pfam_domain:PF07714,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112;HGVSc=ENST00000333611.6:c.1726T>C;HGVSp=ENST00000333611.6:c.1726T>C(p.%3D);GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000182541	ENST00000331728	Transcript	synonymous_variant	1903	1789	597	L	Ttg/Ctg	rs79923828	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13891.1;ENSP=ENSP00000332687;SWISSPROT=P53671;TREMBL=B4DYR0,B4DR56,A0A024R1H6;UNIPARC=UPI00000534BD;EXON=16/16;DOMAINS=Pfam_domain:PF07714,SMART_domains:SM00220,SMART_domains:SM00219,PROSITE_profiles:PS50011,Superfamily_domains:SSF56112;HGVSc=ENST00000331728.6:c.1789T>C;HGVSp=ENST00000331728.6:c.1789T>C(p.%3D);GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000100100	ENST00000215912	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=3280;STRAND=-1;SYMBOL=PIK3IP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24942;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13893.1;ENSP=ENSP00000215912;SWISSPROT=Q96FE7;TREMBL=A0A024R1M3;UNIPARC=UPI000003F53C;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000100100	ENST00000441972	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=3300;STRAND=-1;SYMBOL=PIK3IP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24942;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS46690.1;ENSP=ENSP00000415608;SWISSPROT=Q96FE7;UNIPARC=UPI0000EE5B0C;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000182541	ENST00000482270	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=2648;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=retained_intron;TSL=2;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000100100	ENST00000493034	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=3366;STRAND=-1;SYMBOL=PIK3IP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24942;BIOTYPE=retained_intron;TSL=2;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000100100	ENST00000480654	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=3281;STRAND=-1;SYMBOL=PIK3IP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24942;BIOTYPE=retained_intron;TSL=2;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000182541	ENST00000340552	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=675;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33637.1;ENSP=ENSP00000339916;SWISSPROT=P53671;TREMBL=B5MC51;UNIPARC=UPI0000169F37;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000182541	ENST00000406516	Transcript	downstream_gene_variant	-	-	-	-	-	rs79923828	DISTANCE=675;STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000384602;TREMBL=B5MC51;UNIPARC=UPI000173A2F6;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs79923828	22:31278313	C	ENSG00000182541	ENST00000467301	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	334	-	-	-	-	rs79923828	STRAND=1;SYMBOL=LIMK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6614;BIOTYPE=processed_transcript;TSL=3;EXON=5/5;HGVSc=ENST00000467301.1:n.334T>C;GMAF=C:0.0028;AFR_MAF=C:0.01;AA_MAF=C:0.013845;EA_MAF=C:0.000349
rs114246562	22:33274442	A	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	2828	2256	752	A	gcC/gcT	rs114246562	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=16/16;HGVSc=ENST00000354992.4:c.2256C>T;HGVSp=ENST00000354992.4:c.2256C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs114246562	22:33274442	A	ENSG00000133424	ENST00000609799	Transcript	intron_variant	-	-	-	-	-	rs114246562	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476415;TREMBL=B0QY11;UNIPARC=UPI000165DBB7;INTRON=4/4;HGVSc=ENST00000609799.3:c.482+41643C>T;GMAF=A:0.0009;AFR_MAF=A:0.0041
rs114246562	22:33274442	A	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	2602	2100	700	A	gcC/gcT	rs114246562	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=14/14;HGVSc=ENST00000402320.3:c.2100C>T;HGVSp=ENST00000402320.3:c.2100C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs114246562	22:33274442	A	ENSG00000133424	ENST00000610186	Transcript	intron_variant	-	-	-	-	-	rs114246562	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476364;TREMBL=B7ZB85;UNIPARC=UPI00018814FF;INTRON=6/6;HGVSc=ENST00000610186.3:c.908+8760C>T;GMAF=A:0.0009;AFR_MAF=A:0.0041
rs114246562	22:33274442	A	ENSG00000133424	ENST00000608642	Transcript	intron_variant	-	-	-	-	-	rs114246562	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476866;TREMBL=B7ZB84;UNIPARC=UPI00018814FE;INTRON=5/5;HGVSc=ENST00000608642.3:c.761+29787C>T;GMAF=A:0.0009;AFR_MAF=A:0.0041
rs114246562	22:33274442	A	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	2772	2256	752	A	gcC/gcT	rs114246562	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=15/15;HGVSc=ENST00000397394.4:c.2256C>T;HGVSp=ENST00000397394.4:c.2256C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs114246562	22:33274442	A	-	ENSR00000085177	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114246562	BIOTYPE=CTCF_binding_site;GMAF=A:0.0009;AFR_MAF=A:0.0041
rs73399520	22:33277184	T	ENSG00000133424	ENST00000354992	Transcript	missense_variant	2521	1949	650	R/Q	cGg/cAg	rs73399520	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;SIFT=tolerated(0.36);PolyPhen=benign(0.009);EXON=15/16;HGVSc=ENST00000354992.4:c.1949G>A;HGVSp=ENSP00000347088.2:p.Arg650Gln;GMAF=T:0.0193;AFR_MAF=T:0.08;AMR_MAF=T:0.0028;AA_MAF=T:0.060145;EA_MAF=T:0.000233;CLIN_SIG=benign
rs73399520	22:33277184	T	ENSG00000133424	ENST00000609799	Transcript	intron_variant	-	-	-	-	-	rs73399520	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476415;TREMBL=B0QY11;UNIPARC=UPI000165DBB7;INTRON=4/4;HGVSc=ENST00000609799.3:c.482+38901G>A;GMAF=T:0.0193;AFR_MAF=T:0.08;AMR_MAF=T:0.0028;AA_MAF=T:0.060145;EA_MAF=T:0.000233;CLIN_SIG=benign
rs73399520	22:33277184	T	ENSG00000133424	ENST00000402320	Transcript	missense_variant	2295	1793	598	R/Q	cGg/cAg	rs73399520	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;SIFT=tolerated(0.39);PolyPhen=benign(0.01);EXON=13/14;HGVSc=ENST00000402320.3:c.1793G>A;HGVSp=ENSP00000385223.1:p.Arg598Gln;GMAF=T:0.0193;AFR_MAF=T:0.08;AMR_MAF=T:0.0028;AA_MAF=T:0.060145;EA_MAF=T:0.000233;CLIN_SIG=benign
rs73399520	22:33277184	T	ENSG00000133424	ENST00000610186	Transcript	intron_variant	-	-	-	-	-	rs73399520	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476364;TREMBL=B7ZB85;UNIPARC=UPI00018814FF;INTRON=6/6;HGVSc=ENST00000610186.3:c.908+6018G>A;GMAF=T:0.0193;AFR_MAF=T:0.08;AMR_MAF=T:0.0028;AA_MAF=T:0.060145;EA_MAF=T:0.000233;CLIN_SIG=benign
rs73399520	22:33277184	T	ENSG00000133424	ENST00000608642	Transcript	intron_variant	-	-	-	-	-	rs73399520	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476866;TREMBL=B7ZB84;UNIPARC=UPI00018814FE;INTRON=5/5;HGVSc=ENST00000608642.3:c.761+27045G>A;GMAF=T:0.0193;AFR_MAF=T:0.08;AMR_MAF=T:0.0028;AA_MAF=T:0.060145;EA_MAF=T:0.000233;CLIN_SIG=benign
rs73399520	22:33277184	T	ENSG00000133424	ENST00000397394	Transcript	missense_variant	2465	1949	650	R/Q	cGg/cAg	rs73399520	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;SIFT=tolerated(0.36);PolyPhen=benign(0.009);EXON=14/15;HGVSc=ENST00000397394.4:c.1949G>A;HGVSp=ENSP00000380549.2:p.Arg650Gln;GMAF=T:0.0193;AFR_MAF=T:0.08;AMR_MAF=T:0.0028;AA_MAF=T:0.060145;EA_MAF=T:0.000233;CLIN_SIG=benign
rs113253213	22:33304315	A	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	2216	1644	548	N	aaC/aaT	rs113253213	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=13/16;HGVSc=ENST00000354992.4:c.1644C>T;HGVSp=ENST00000354992.4:c.1644C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.005901;EA_MAF=A:0;CLIN_SIG=benign
rs113253213	22:33304315	A	ENSG00000133424	ENST00000609799	Transcript	intron_variant	-	-	-	-	-	rs113253213	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476415;TREMBL=B0QY11;UNIPARC=UPI000165DBB7;INTRON=4/4;HGVSc=ENST00000609799.3:c.482+11770C>T;GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.005901;EA_MAF=A:0;CLIN_SIG=benign
rs113253213	22:33304315	A	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	1990	1488	496	N	aaC/aaT	rs113253213	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=11/14;HGVSc=ENST00000402320.3:c.1488C>T;HGVSp=ENST00000402320.3:c.1488C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.005901;EA_MAF=A:0;CLIN_SIG=benign
rs113253213	22:33304315	A	ENSG00000133424	ENST00000610186	Transcript	synonymous_variant	675	675	225	N	aaC/aaT	rs113253213	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476364;TREMBL=B7ZB85;UNIPARC=UPI00018814FF;EXON=5/7;HGVSc=ENST00000610186.3:c.675C>T;HGVSp=ENST00000610186.3:c.675C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.005901;EA_MAF=A:0;CLIN_SIG=benign
rs113253213	22:33304315	A	ENSG00000133424	ENST00000608642	Transcript	synonymous_variant	675	675	225	N	aaC/aaT	rs113253213	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476866;TREMBL=B7ZB84;UNIPARC=UPI00018814FE;EXON=5/6;HGVSc=ENST00000608642.3:c.675C>T;HGVSp=ENST00000608642.3:c.675C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.005901;EA_MAF=A:0;CLIN_SIG=benign
rs113253213	22:33304315	A	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	2160	1644	548	N	aaC/aaT	rs113253213	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=12/15;HGVSc=ENST00000397394.4:c.1644C>T;HGVSp=ENST00000397394.4:c.1644C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.005901;EA_MAF=A:0;CLIN_SIG=benign
rs34292743	22:33304411	A	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	2120	1548	516	Y	taC/taT	rs34292743,LARGE:c.1548C>G,CM074311	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=13/16;HGVSc=ENST00000354992.4:c.1548C>T;HGVSp=ENST00000354992.4:c.1548C>T(p.%3D);GMAF=A:0.0225;AFR_MAF=A:0.09;AMR_MAF=A:0.01;AA_MAF=A:0.081026;EA_MAF=A:0.000349;CLIN_SIG=benign
rs34292743	22:33304411	A	ENSG00000133424	ENST00000609799	Transcript	intron_variant	-	-	-	-	-	rs34292743,LARGE:c.1548C>G,CM074311	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476415;TREMBL=B0QY11;UNIPARC=UPI000165DBB7;INTRON=4/4;HGVSc=ENST00000609799.3:c.482+11674C>T;GMAF=A:0.0225;AFR_MAF=A:0.09;AMR_MAF=A:0.01;AA_MAF=A:0.081026;EA_MAF=A:0.000349;CLIN_SIG=benign
rs34292743	22:33304411	A	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	1894	1392	464	Y	taC/taT	rs34292743,LARGE:c.1548C>G,CM074311	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=11/14;HGVSc=ENST00000402320.3:c.1392C>T;HGVSp=ENST00000402320.3:c.1392C>T(p.%3D);GMAF=A:0.0225;AFR_MAF=A:0.09;AMR_MAF=A:0.01;AA_MAF=A:0.081026;EA_MAF=A:0.000349;CLIN_SIG=benign
rs34292743	22:33304411	A	ENSG00000133424	ENST00000610186	Transcript	synonymous_variant	579	579	193	Y	taC/taT	rs34292743,LARGE:c.1548C>G,CM074311	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476364;TREMBL=B7ZB85;UNIPARC=UPI00018814FF;EXON=5/7;HGVSc=ENST00000610186.3:c.579C>T;HGVSp=ENST00000610186.3:c.579C>T(p.%3D);GMAF=A:0.0225;AFR_MAF=A:0.09;AMR_MAF=A:0.01;AA_MAF=A:0.081026;EA_MAF=A:0.000349;CLIN_SIG=benign
rs34292743	22:33304411	A	ENSG00000133424	ENST00000608642	Transcript	synonymous_variant	579	579	193	Y	taC/taT	rs34292743,LARGE:c.1548C>G,CM074311	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476866;TREMBL=B7ZB84;UNIPARC=UPI00018814FE;EXON=5/6;HGVSc=ENST00000608642.3:c.579C>T;HGVSp=ENST00000608642.3:c.579C>T(p.%3D);GMAF=A:0.0225;AFR_MAF=A:0.09;AMR_MAF=A:0.01;AA_MAF=A:0.081026;EA_MAF=A:0.000349;CLIN_SIG=benign
rs34292743	22:33304411	A	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	2064	1548	516	Y	taC/taT	rs34292743,LARGE:c.1548C>G,CM074311	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=12/15;HGVSc=ENST00000397394.4:c.1548C>T;HGVSp=ENST00000397394.4:c.1548C>T(p.%3D);GMAF=A:0.0225;AFR_MAF=A:0.09;AMR_MAF=A:0.01;AA_MAF=A:0.081026;EA_MAF=A:0.000349;CLIN_SIG=benign
rs115686643	22:33316147	A	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	1961	1389	463	Y	taC/taT	rs115686643	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=12/16;HGVSc=ENST00000354992.4:c.1389C>T;HGVSp=ENST00000354992.4:c.1389C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs115686643	22:33316147	A	ENSG00000230741	ENST00000453924	Transcript	upstream_gene_variant	-	-	-	-	-	rs115686643	DISTANCE=4718;STRAND=1;SYMBOL=SC22CB-1D7.1;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=antisense;CANONICAL=YES;TSL=3;GMAF=A:0.0009;AFR_MAF=A:0.0041
rs115686643	22:33316147	A	ENSG00000133424	ENST00000609799	Transcript	synonymous_variant	420	420	140	Y	taC/taT	rs115686643	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476415;TREMBL=B0QY11;UNIPARC=UPI000165DBB7;EXON=4/5;HGVSc=ENST00000609799.3:c.420C>T;HGVSp=ENST00000609799.3:c.420C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs115686643	22:33316147	A	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	1735	1233	411	Y	taC/taT	rs115686643	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=10/14;HGVSc=ENST00000402320.3:c.1233C>T;HGVSp=ENST00000402320.3:c.1233C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs115686643	22:33316147	A	ENSG00000133424	ENST00000610186	Transcript	synonymous_variant	420	420	140	Y	taC/taT	rs115686643	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476364;TREMBL=B7ZB85;UNIPARC=UPI00018814FF;EXON=4/7;HGVSc=ENST00000610186.3:c.420C>T;HGVSp=ENST00000610186.3:c.420C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs115686643	22:33316147	A	ENSG00000133424	ENST00000608642	Transcript	synonymous_variant	420	420	140	Y	taC/taT	rs115686643	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000476866;TREMBL=B7ZB84;UNIPARC=UPI00018814FE;EXON=4/6;HGVSc=ENST00000608642.3:c.420C>T;HGVSp=ENST00000608642.3:c.420C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs115686643	22:33316147	A	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	1905	1389	463	Y	taC/taT	rs115686643	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=11/15;HGVSc=ENST00000397394.4:c.1389C>T;HGVSp=ENST00000397394.4:c.1389C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041
rs8142483	22:33604498	T	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	1124	552	184	T	acG/acA	rs8142483,LARGE:c.552G>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=6/16;DOMAINS=Pfam_domain:PF01501,Superfamily_domains:SSF53448;HGVSc=ENST00000354992.4:c.552G>A;HGVSp=ENST00000354992.4:c.552G>A(p.%3D);GMAF=T:0.0087;AFR_MAF=T:0.03;AMR_MAF=T:0.0028;EUR_MAF=T:0.0013;AA_MAF=T:0.028597;EA_MAF=T:0.000116
rs8142483	22:33604498	T	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	1054	552	184	T	acG/acA	rs8142483,LARGE:c.552G>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=5/14;DOMAINS=Pfam_domain:PF01501,Superfamily_domains:SSF53448;HGVSc=ENST00000402320.3:c.552G>A;HGVSp=ENST00000402320.3:c.552G>A(p.%3D);GMAF=T:0.0087;AFR_MAF=T:0.03;AMR_MAF=T:0.0028;EUR_MAF=T:0.0013;AA_MAF=T:0.028597;EA_MAF=T:0.000116
rs8142483	22:33604498	T	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	1068	552	184	T	acG/acA	rs8142483,LARGE:c.552G>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=5/15;DOMAINS=Pfam_domain:PF01501,Superfamily_domains:SSF53448;HGVSc=ENST00000397394.4:c.552G>A;HGVSp=ENST00000397394.4:c.552G>A(p.%3D);GMAF=T:0.0087;AFR_MAF=T:0.03;AMR_MAF=T:0.0028;EUR_MAF=T:0.0013;AA_MAF=T:0.028597;EA_MAF=T:0.000116
rs86487	22:33626300	A	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	1007	435	145	A	gcC/gcT	rs86487,LARGE:c.435C>T,COSM4156187	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=5/16;DOMAINS=Superfamily_domains:SSF53448;HGVSc=ENST00000354992.4:c.435C>T;HGVSp=ENST00000354992.4:c.435C>T(p.%3D);GMAF=A:0.4362;AFR_MAF=A:0.13;AMR_MAF=A:0.51;ASN_MAF=A:0.56;EUR_MAF=A:0.51;AA_MAF=A:0.163640;EA_MAF=A:0.483605;CLIN_SIG=benign;SOMATIC=0,0,1
rs86487	22:33626300	A	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	937	435	145	A	gcC/gcT	rs86487,LARGE:c.435C>T,COSM4156187	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=4/14;DOMAINS=Superfamily_domains:SSF53448;HGVSc=ENST00000402320.3:c.435C>T;HGVSp=ENST00000402320.3:c.435C>T(p.%3D);GMAF=A:0.4362;AFR_MAF=A:0.13;AMR_MAF=A:0.51;ASN_MAF=A:0.56;EUR_MAF=A:0.51;AA_MAF=A:0.163640;EA_MAF=A:0.483605;CLIN_SIG=benign;SOMATIC=0,0,1
rs86487	22:33626300	A	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	951	435	145	A	gcC/gcT	rs86487,LARGE:c.435C>T,COSM4156187	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=4/15;DOMAINS=Superfamily_domains:SSF53448;HGVSc=ENST00000397394.4:c.435C>T;HGVSp=ENST00000397394.4:c.435C>T(p.%3D);GMAF=A:0.4362;AFR_MAF=A:0.13;AMR_MAF=A:0.51;ASN_MAF=A:0.56;EUR_MAF=A:0.51;AA_MAF=A:0.163640;EA_MAF=A:0.483605;CLIN_SIG=benign;SOMATIC=0,0,1
rs59349720	22:33650466	A	ENSG00000133424	ENST00000413114	Transcript	synonymous_variant	675	309	103	S	tcC/tcT	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000415546;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8;UNIPARC=UPI0001611050;EXON=4/4;HGVSc=ENST00000413114.3:c.309C>T;HGVSp=ENST00000413114.3:c.309C>T(p.%3D);GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	881	309	103	S	tcC/tcT	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=4/16;HGVSc=ENST00000354992.4:c.309C>T;HGVSp=ENST00000354992.4:c.309C>T(p.%3D);GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000494763	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	511	-	-	-	-	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=processed_transcript;TSL=4;EXON=3/3;HGVSc=ENST00000494763.1:n.511C>T;GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000462606	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	458	-	-	-	-	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=processed_transcript;TSL=4;EXON=2/2;HGVSc=ENST00000462606.1:n.458C>T;GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000423375	Transcript	downstream_gene_variant	-	-	-	-	-	rs59349720,LARGE:c.309C>A	DISTANCE=166;STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000406000;TREMBL=B0QZ00;UNIPARC=UPI0001611052;GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000432776	Transcript	downstream_gene_variant	-	-	-	-	-	rs59349720,LARGE:c.309C>A	DISTANCE=129;STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000411065;TREMBL=B0QZ00,B0QZ01;UNIPARC=UPI0001611053;GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000430220	Transcript	synonymous_variant	460	309	103	S	tcC/tcT	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000396277;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI0001611054;EXON=3/3;HGVSc=ENST00000430220.4:c.309C>T;HGVSp=ENST00000430220.4:c.309C>T(p.%3D);GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	811	309	103	S	tcC/tcT	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=3/14;HGVSc=ENST00000402320.3:c.309C>T;HGVSp=ENST00000402320.3:c.309C>T(p.%3D);GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000434071	Transcript	synonymous_variant	545	309	103	S	tcC/tcT	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389605;TREMBL=B0QZ00,B0QYZ9,B0QZ01;UNIPARC=UPI0001611051;EXON=4/4;HGVSc=ENST00000434071.3:c.309C>T;HGVSp=ENST00000434071.3:c.309C>T(p.%3D);GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs59349720	22:33650466	A	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	825	309	103	S	tcC/tcT	rs59349720,LARGE:c.309C>A	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=3/15;HGVSc=ENST00000397394.4:c.309C>T;HGVSp=ENST00000397394.4:c.309C>T(p.%3D);GMAF=A:0.0138;AFR_MAF=A:0.06;AMR_MAF=A:0.01;EUR_MAF=A:0.0013;AA_MAF=A:0.059237;EA_MAF=A:0.000116;CLIN_SIG=benign
rs63446460	22:33650610	G	ENSG00000133424	ENST00000413114	Transcript	synonymous_variant	531	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000415546;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8;UNIPARC=UPI0001611050;EXON=4/4;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000413114.3:c.165G>C;HGVSp=ENST00000413114.3:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000354992	Transcript	synonymous_variant	737	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=4/16;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000354992.4:c.165G>C;HGVSp=ENST00000354992.4:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000494763	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	367	-	-	-	-	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=processed_transcript;TSL=4;EXON=3/3;HGVSc=ENST00000494763.1:n.367G>C;GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000462606	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	314	-	-	-	-	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=processed_transcript;TSL=4;EXON=2/2;HGVSc=ENST00000462606.1:n.314G>C;GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000423375	Transcript	downstream_gene_variant	-	-	-	-	-	rs130758,rs63446460	DISTANCE=22;STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000406000;TREMBL=B0QZ00;UNIPARC=UPI0001611052;GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000432776	Transcript	synonymous_variant	545	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000411065;TREMBL=B0QZ00,B0QZ01;UNIPARC=UPI0001611053;EXON=3/3;HGVSc=ENST00000432776.3:c.165G>C;HGVSp=ENST00000432776.3:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000430220	Transcript	synonymous_variant	316	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000396277;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI0001611054;EXON=3/3;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000430220.4:c.165G>C;HGVSp=ENST00000430220.4:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000402320	Transcript	synonymous_variant	667	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;EXON=3/14;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000402320.3:c.165G>C;HGVSp=ENST00000402320.3:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000434071	Transcript	synonymous_variant	401	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389605;TREMBL=B0QZ00,B0QYZ9,B0QZ01;UNIPARC=UPI0001611051;EXON=4/4;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000434071.3:c.165G>C;HGVSp=ENST00000434071.3:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs63446460	22:33650610	G	ENSG00000133424	ENST00000397394	Transcript	synonymous_variant	681	165	55	T	acG/acC	rs130758,rs63446460	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;EXON=3/15;DOMAINS=Coiled-coils_(Ncoils):ncoils;HGVSc=ENST00000397394.4:c.165G>C;HGVSp=ENST00000397394.4:c.165G>C(p.%3D);GMAF=G:0.0096;AFR_MAF=G:0.04;AMR_MAF=G:0.01;AA_MAF=G:0.040756;EA_MAF=G:0.000116
rs115801300	22:33650633	T	ENSG00000133424	ENST00000413114	Transcript	missense_variant	508	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000415546;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8;UNIPARC=UPI0001611050;SIFT=tolerated(0.11);PolyPhen=benign(0.013);EXON=4/4;HGVSc=ENST00000413114.3:c.142C>A;HGVSp=ENSP00000415546.1:p.Gln48Lys
rs115801300	22:33650633	T	ENSG00000133424	ENST00000354992	Transcript	missense_variant	714	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13912.1;ENSP=ENSP00000347088;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;SIFT=tolerated(0.66);PolyPhen=benign(0.013);EXON=4/16;HGVSc=ENST00000354992.4:c.142C>A;HGVSp=ENSP00000347088.2:p.Gln48Lys
rs115801300	22:33650633	T	ENSG00000133424	ENST00000494763	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	344	-	-	-	-	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=processed_transcript;TSL=4;EXON=3/3;HGVSc=ENST00000494763.1:n.344C>A
rs115801300	22:33650633	T	ENSG00000133424	ENST00000462606	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	291	-	-	-	-	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=processed_transcript;TSL=4;EXON=2/2;HGVSc=ENST00000462606.1:n.291C>A
rs115801300	22:33650633	T	ENSG00000133424	ENST00000423375	Transcript	incomplete_terminal_codon_variant,coding_sequence_variant	567	142	48	X	Ca/Aa	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000406000;TREMBL=B0QZ00;UNIPARC=UPI0001611052;EXON=4/4;HGVSc=ENST00000423375.1:c.142C>A;HGVSp=ENST00000423375.1:c.142C>A(p.%3D)
rs115801300	22:33650633	T	ENSG00000133424	ENST00000432776	Transcript	missense_variant	522	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000411065;TREMBL=B0QZ00,B0QZ01;UNIPARC=UPI0001611053;SIFT=tolerated(0.11);PolyPhen=benign(0.013);EXON=3/3;HGVSc=ENST00000432776.3:c.142C>A;HGVSp=ENSP00000411065.1:p.Gln48Lys
rs115801300	22:33650633	T	ENSG00000133424	ENST00000430220	Transcript	missense_variant	293	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000396277;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI0001611054;SIFT=tolerated(0.11);PolyPhen=benign(0.013);EXON=3/3;HGVSc=ENST00000430220.4:c.142C>A;HGVSp=ENSP00000396277.2:p.Gln48Lys
rs115801300	22:33650633	T	ENSG00000133424	ENST00000402320	Transcript	missense_variant	644	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000385223;SWISSPROT=O95461;TREMBL=B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI00004DEA5A;SIFT=tolerated(0.67);PolyPhen=benign(0.058);EXON=3/14;HGVSc=ENST00000402320.3:c.142C>A;HGVSp=ENSP00000385223.1:p.Gln48Lys
rs115801300	22:33650633	T	ENSG00000133424	ENST00000434071	Transcript	missense_variant	378	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000389605;TREMBL=B0QZ00,B0QYZ9,B0QZ01;UNIPARC=UPI0001611051;SIFT=tolerated(0.12);PolyPhen=benign(0.013);EXON=4/4;HGVSc=ENST00000434071.3:c.142C>A;HGVSp=ENSP00000389605.1:p.Gln48Lys
rs115801300	22:33650633	T	ENSG00000133424	ENST00000397394	Transcript	missense_variant	658	142	48	Q/K	Cag/Aag	rs115801300	STRAND=-1;SYMBOL=LARGE;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6511;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS13912.1;ENSP=ENSP00000380549;SWISSPROT=O95461;TREMBL=X5DR28,B0QZ00,B0QYZ9,B0QZ01,B0QYZ8,B0QZ02;UNIPARC=UPI000012E200;SIFT=tolerated(0.66);PolyPhen=benign(0.013);EXON=3/15;HGVSc=ENST00000397394.4:c.142C>A;HGVSp=ENSP00000380549.2:p.Gln48Lys
rs114289284	22:38699831	A	ENSG00000100221	ENST00000493939	Transcript	downstream_gene_variant	-	-	-	-	-	rs114289284	DISTANCE=451;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4
rs114289284	22:38699831	A	ENSG00000100221	ENST00000456626	Transcript	missense_variant	815	157	53	R/W	Cgg/Tgg	rs114289284	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000405182;TREMBL=B0QY58;UNIPARC=UPI0001611141;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);EXON=2/2;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000456626.1:c.157C>T;HGVSp=ENSP00000405182.1:p.Arg53Trp
rs114289284	22:38699831	A	ENSG00000100221	ENST00000462610	Transcript	downstream_gene_variant	-	-	-	-	-	rs114289284	DISTANCE=330;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4
rs114289284	22:38699831	A	ENSG00000100221	ENST00000490169	Transcript	downstream_gene_variant	-	-	-	-	-	rs114289284	DISTANCE=445;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4
rs114289284	22:38699831	A	ENSG00000100221	ENST00000417712	Transcript	missense_variant	593	157	53	R/W	Cgg/Tgg	rs114289284	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000393131;TREMBL=B0QY58,B0QY55;UNIPARC=UPI000161113A;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);EXON=2/2;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000417712.1:c.157C>T;HGVSp=ENSP00000393131.1:p.Arg53Trp
rs114289284	22:38699831	A	ENSG00000100221	ENST00000412832	Transcript	missense_variant	372	157	53	R/W	Cgg/Tgg	rs114289284	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000415189;TREMBL=B0QY58,B0QY57,B0QY55;UNIPARC=UPI0001611142;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);EXON=2/3;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000412832.1:c.157C>T;HGVSp=ENSP00000415189.1:p.Arg53Trp
rs114289284	22:38699831	A	ENSG00000100221	ENST00000545590	Transcript	missense_variant	140	142	48	R/W	Cgg/Tgg	rs114289284	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000444798;UNIPARC=UPI000204A81B;SIFT=deleterious(0);PolyPhen=probably_damaging(0.95);EXON=1/3;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000545590.1:c.140C>T;HGVSp=ENSP00000444798.1:p.Arg48Trp
rs114289284	22:38699831	A	ENSG00000100221	ENST00000216039	Transcript	missense_variant	837	157	53	R/W	Cgg/Tgg	rs114289284	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13976.1;ENSP=ENSP00000216039;SWISSPROT=Q15040;TREMBL=A0A024R1P5,B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI000012DABD;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);EXON=1/4;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000216039.7:c.157C>T;HGVSp=ENSP00000216039.5:p.Arg53Trp
rs114289284	22:38699831	A	ENSG00000100221	ENST00000427389	Transcript	missense_variant	358	157	53	R/W	Cgg/Tgg	rs114289284	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000410010;TREMBL=B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI0001611143;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);EXON=2/4;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000427389.3:c.157C>T;HGVSp=ENSP00000410010.1:p.Arg53Trp
rs114289284	22:38699831	A	-	ENSR00000618255	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114289284	BIOTYPE=promoter
rs6001200	22:38699844	C	ENSG00000100221	ENST00000493939	Transcript	downstream_gene_variant	-	-	-	-	-	rs6001200	DISTANCE=438;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000456626	Transcript	missense_variant	802	144	48	S/R	agC/agG	rs6001200	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000405182;TREMBL=B0QY58;UNIPARC=UPI0001611141;SIFT=tolerated(0.28);PolyPhen=benign(0.089);EXON=2/2;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000456626.1:c.144C>G;HGVSp=ENSP00000405182.1:p.Ser48Arg;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000462610	Transcript	downstream_gene_variant	-	-	-	-	-	rs6001200	DISTANCE=317;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000490169	Transcript	downstream_gene_variant	-	-	-	-	-	rs6001200	DISTANCE=432;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000417712	Transcript	missense_variant	580	144	48	S/R	agC/agG	rs6001200	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000393131;TREMBL=B0QY58,B0QY55;UNIPARC=UPI000161113A;SIFT=tolerated(0.31);PolyPhen=benign(0.089);EXON=2/2;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000417712.1:c.144C>G;HGVSp=ENSP00000393131.1:p.Ser48Arg;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000412832	Transcript	missense_variant	359	144	48	S/R	agC/agG	rs6001200	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000415189;TREMBL=B0QY58,B0QY57,B0QY55;UNIPARC=UPI0001611142;SIFT=tolerated(0.56);PolyPhen=benign(0.089);EXON=2/3;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000412832.1:c.144C>G;HGVSp=ENSP00000415189.1:p.Ser48Arg;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000545590	Transcript	missense_variant	127	129	43	S/R	agC/agG	rs6001200	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000444798;UNIPARC=UPI000204A81B;SIFT=tolerated(0.63);PolyPhen=benign(0.028);EXON=1/3;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000545590.1:c.127C>G;HGVSp=ENSP00000444798.1:p.Ser43Arg;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000216039	Transcript	missense_variant	824	144	48	S/R	agC/agG	rs6001200	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13976.1;ENSP=ENSP00000216039;SWISSPROT=Q15040;TREMBL=A0A024R1P5,B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI000012DABD;SIFT=tolerated(0.68);PolyPhen=benign(0.089);EXON=1/4;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000216039.7:c.144C>G;HGVSp=ENSP00000216039.5:p.Ser48Arg;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	ENSG00000100221	ENST00000427389	Transcript	missense_variant	345	144	48	S/R	agC/agG	rs6001200	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000410010;TREMBL=B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI0001611143;SIFT=tolerated(0.63);PolyPhen=benign(0.089);EXON=2/4;DOMAINS=Pfam_domain:PF02099,PROSITE_profiles:PS50957;HGVSc=ENST00000427389.3:c.144C>G;HGVSp=ENSP00000410010.1:p.Ser48Arg;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs6001200	22:38699844	C	-	ENSR00000618255	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs6001200	BIOTYPE=promoter;GMAF=C:0.0225;AFR_MAF=C:0.09;AMR_MAF=C:0.01;AA_MAF=C:0.080572;EA_MAF=C:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000493939	Transcript	downstream_gene_variant	-	-	-	-	-	rs114180421	DISTANCE=340;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000456626	Transcript	synonymous_variant	704	46	16	L	Ttg/Ctg	rs114180421	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000405182;TREMBL=B0QY58;UNIPARC=UPI0001611141;EXON=2/2;HGVSc=ENST00000456626.1:c.46T>C;HGVSp=ENST00000456626.1:c.46T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000462610	Transcript	downstream_gene_variant	-	-	-	-	-	rs114180421	DISTANCE=219;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000490169	Transcript	downstream_gene_variant	-	-	-	-	-	rs114180421	DISTANCE=334;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000417712	Transcript	synonymous_variant	482	46	16	L	Ttg/Ctg	rs114180421	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000393131;TREMBL=B0QY58,B0QY55;UNIPARC=UPI000161113A;EXON=2/2;HGVSc=ENST00000417712.1:c.46T>C;HGVSp=ENST00000417712.1:c.46T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000412832	Transcript	synonymous_variant	261	46	16	L	Ttg/Ctg	rs114180421	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000415189;TREMBL=B0QY58,B0QY57,B0QY55;UNIPARC=UPI0001611142;EXON=2/3;HGVSc=ENST00000412832.1:c.46T>C;HGVSp=ENST00000412832.1:c.46T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000545590	Transcript	synonymous_variant	29	31	11	L	Ttg/Ctg	rs114180421	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000444798;UNIPARC=UPI000204A81B;EXON=1/3;DOMAINS=PROSITE_profiles:PS50957;HGVSc=ENST00000545590.1:c.29T>C;HGVSp=ENST00000545590.1:c.29T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000216039	Transcript	synonymous_variant	726	46	16	L	Ttg/Ctg	rs114180421	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13976.1;ENSP=ENSP00000216039;SWISSPROT=Q15040;TREMBL=A0A024R1P5,B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI000012DABD;EXON=1/4;HGVSc=ENST00000216039.7:c.46T>C;HGVSp=ENST00000216039.7:c.46T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	ENSG00000100221	ENST00000427389	Transcript	synonymous_variant	247	46	16	L	Ttg/Ctg	rs114180421	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000410010;TREMBL=B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI0001611143;EXON=2/4;HGVSc=ENST00000427389.3:c.46T>C;HGVSp=ENST00000427389.3:c.46T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114180421	22:38699942	G	-	ENSR00000618255	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114180421	BIOTYPE=promoter;GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs2072800	22:38699982	G	ENSG00000100221	ENST00000493939	Transcript	downstream_gene_variant	-	-	-	-	-	rs2072800	DISTANCE=300;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000456626	Transcript	synonymous_variant	664	6	2	S	agT/agC	rs2072800	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000405182;TREMBL=B0QY58;UNIPARC=UPI0001611141;EXON=2/2;HGVSc=ENST00000456626.1:c.6T>C;HGVSp=ENST00000456626.1:c.6T>C(p.%3D);GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000462610	Transcript	downstream_gene_variant	-	-	-	-	-	rs2072800	DISTANCE=179;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000490169	Transcript	downstream_gene_variant	-	-	-	-	-	rs2072800	DISTANCE=294;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=processed_transcript;TSL=4;GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000417712	Transcript	synonymous_variant	442	6	2	S	agT/agC	rs2072800	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000393131;TREMBL=B0QY58,B0QY55;UNIPARC=UPI000161113A;EXON=2/2;HGVSc=ENST00000417712.1:c.6T>C;HGVSp=ENST00000417712.1:c.6T>C(p.%3D);GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000412832	Transcript	synonymous_variant	221	6	2	S	agT/agC	rs2072800	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000415189;TREMBL=B0QY58,B0QY57,B0QY55;UNIPARC=UPI0001611142;EXON=2/3;HGVSc=ENST00000412832.1:c.6T>C;HGVSp=ENST00000412832.1:c.6T>C(p.%3D);GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000545590	Transcript	upstream_gene_variant	-	-	-	-	-	rs2072800	DISTANCE=12;STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000444798;UNIPARC=UPI000204A81B;GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000216039	Transcript	synonymous_variant	686	6	2	S	agT/agC	rs2072800	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13976.1;ENSP=ENSP00000216039;SWISSPROT=Q15040;TREMBL=A0A024R1P5,B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI000012DABD;EXON=1/4;HGVSc=ENST00000216039.7:c.6T>C;HGVSp=ENST00000216039.7:c.6T>C(p.%3D);GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	ENSG00000100221	ENST00000427389	Transcript	synonymous_variant	207	6	2	S	agT/agC	rs2072800	STRAND=-1;SYMBOL=JOSD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28953;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000410010;TREMBL=B0QY58,B0QY57,B0QY55,B0QY56;UNIPARC=UPI0001611143;EXON=2/4;HGVSc=ENST00000427389.3:c.6T>C;HGVSp=ENST00000427389.3:c.6T>C(p.%3D);GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs2072800	22:38699982	G	-	ENSR00000618255	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs2072800	BIOTYPE=promoter;GMAF=G:0.0790;AFR_MAF=G:0.18;AMR_MAF=G:0.01;ASN_MAF=G:0.12;EUR_MAF=G:0.02;AA_MAF=G:0.176577;EA_MAF=G:0.020233
rs5750728	22:39044144	T	ENSG00000239713	ENST00000452957	Transcript	intron_variant	-	-	-	-	-	rs5750728	STRAND=1;SYMBOL=APOBEC3G;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17357;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000413376;SWISSPROT=Q9HC16;TREMBL=B2LYL6;UNIPARC=UPI00000709E2;INTRON=1/7;HGVSc=ENST00000452957.4:c.17+3167C>T;GMAF=C:0.4927;AFR_MAF=T:0.22;AMR_MAF=T:0.65;ASN_MAF=T:0.71;EUR_MAF=T:0.47;AA_MAF=T:0.260502;EA_MAF=T:0.527972
rs5750728	22:39044144	T	ENSG00000128394	ENST00000381565	Transcript	missense_variant	337	233	78	A/V	gCc/gTc	rs5750728	STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33649.1;ENSP=ENSP00000370977;SWISSPROT=Q8IUX4;UNIPARC=UPI000006E433;SIFT=tolerated(0.44);PolyPhen=benign(0.005);EXON=3/3;HGVSc=ENST00000381565.2:c.233C>T;HGVSp=ENSP00000370977.2:p.Ala78Val;GMAF=C:0.4927;AFR_MAF=T:0.22;AMR_MAF=T:0.65;ASN_MAF=T:0.71;EUR_MAF=T:0.47;AA_MAF=T:0.260502;EA_MAF=T:0.527972
rs5750728	22:39044144	T	ENSG00000128394	ENST00000308521	Transcript	intron_variant	-	-	-	-	-	rs5750728	STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33648.1;ENSP=ENSP00000309749;SWISSPROT=Q8IUX4;TREMBL=B4DGW8;UNIPARC=UPI000016074C;INTRON=2/6;HGVSc=ENST00000308521.7:c.172-797C>T;GMAF=C:0.4927;AFR_MAF=T:0.22;AMR_MAF=T:0.65;ASN_MAF=T:0.71;EUR_MAF=T:0.47;AA_MAF=T:0.260502;EA_MAF=T:0.527972
rs5750728	22:39044144	T	ENSG00000128394	ENST00000491387	Transcript	intron_variant,non_coding_transcript_variant	-	-	-	-	-	rs5750728	STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=processed_transcript;TSL=4;INTRON=2/2;HGVSc=ENST00000491387.1:n.319-797C>T;GMAF=C:0.4927;AFR_MAF=T:0.22;AMR_MAF=T:0.65;ASN_MAF=T:0.71;EUR_MAF=T:0.47;AA_MAF=T:0.260502;EA_MAF=T:0.527972
rs5750728	22:39044144	T	ENSG00000128394	ENST00000476513	Transcript	upstream_gene_variant	-	-	-	-	-	rs5750728	DISTANCE=1040;STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=retained_intron;TSL=3;GMAF=C:0.4927;AFR_MAF=T:0.22;AMR_MAF=T:0.65;ASN_MAF=T:0.71;EUR_MAF=T:0.47;AA_MAF=T:0.260502;EA_MAF=T:0.527972
rs114704208	22:39044171	T	ENSG00000239713	ENST00000452957	Transcript	intron_variant	-	-	-	-	-	rs114704208	STRAND=1;SYMBOL=APOBEC3G;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17357;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000413376;SWISSPROT=Q9HC16;TREMBL=B2LYL6;UNIPARC=UPI00000709E2;INTRON=1/7;HGVSc=ENST00000452957.4:c.17+3194A>T;GMAF=T:0.0142;AFR_MAF=T:0.06;AMR_MAF=T:0.0028;AA_MAF=T:0.038024;EA_MAF=T:0.000349
rs114704208	22:39044171	T	ENSG00000128394	ENST00000381565	Transcript	missense_variant	364	260	87	Q/L	cAg/cTg	rs114704208	STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS33649.1;ENSP=ENSP00000370977;SWISSPROT=Q8IUX4;UNIPARC=UPI000006E433;SIFT=deleterious(0.02);PolyPhen=benign(0);EXON=3/3;HGVSc=ENST00000381565.2:c.260A>T;HGVSp=ENSP00000370977.2:p.Gln87Leu;GMAF=T:0.0142;AFR_MAF=T:0.06;AMR_MAF=T:0.0028;AA_MAF=T:0.038024;EA_MAF=T:0.000349
rs114704208	22:39044171	T	ENSG00000128394	ENST00000308521	Transcript	intron_variant	-	-	-	-	-	rs114704208	STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS33648.1;ENSP=ENSP00000309749;SWISSPROT=Q8IUX4;TREMBL=B4DGW8;UNIPARC=UPI000016074C;INTRON=2/6;HGVSc=ENST00000308521.7:c.172-770A>T;GMAF=T:0.0142;AFR_MAF=T:0.06;AMR_MAF=T:0.0028;AA_MAF=T:0.038024;EA_MAF=T:0.000349
rs114704208	22:39044171	T	ENSG00000128394	ENST00000491387	Transcript	intron_variant,non_coding_transcript_variant	-	-	-	-	-	rs114704208	STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=processed_transcript;TSL=4;INTRON=2/2;HGVSc=ENST00000491387.1:n.319-770A>T;GMAF=T:0.0142;AFR_MAF=T:0.06;AMR_MAF=T:0.0028;AA_MAF=T:0.038024;EA_MAF=T:0.000349
rs114704208	22:39044171	T	ENSG00000128394	ENST00000476513	Transcript	upstream_gene_variant	-	-	-	-	-	rs114704208	DISTANCE=1013;STRAND=1;SYMBOL=APOBEC3F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17356;BIOTYPE=retained_intron;TSL=3;GMAF=T:0.0142;AFR_MAF=T:0.06;AMR_MAF=T:0.0028;AA_MAF=T:0.038024;EA_MAF=T:0.000349
rs35978693	22:39225792	T	ENSG00000100311	ENST00000331163	Transcript	synonymous_variant	1445	657	219	P	ccC/ccA	rs35978693,rs67510150,COSM1416322,COSM39683,COSM1416323,COSM1416324	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13987.1;ENSP=ENSP00000330382;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,P78450,A0A024R1R5;UNIPARC=UPI000004110E;EXON=6/7;HGVSc=ENST00000331163.8:c.657C>A;HGVSp=ENST00000331163.8:c.657C>A(p.%3D);GMAF=T:0.0101;AFR_MAF=T:0.04;AA_MAF=T:0.049932;EA_MAF=T:0.000233;SOMATIC=0,0,1,1,1,1
rs35978693	22:39225792	T	ENSG00000100311	ENST00000455790	Transcript	downstream_gene_variant	-	-	-	-	-	rs35978693,rs67510150,COSM1416322,COSM39683,COSM1416323,COSM1416324	DISTANCE=4367;STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000402306;TREMBL=A9UJN9,A9UJP0,Q9UE57;UNIPARC=UPI00016110B4;GMAF=T:0.0101;AFR_MAF=T:0.04;AA_MAF=T:0.049932;EA_MAF=T:0.000233;SOMATIC=0,0,1,1,1,1
rs35978693	22:39225792	T	ENSG00000100311	ENST00000440375	Transcript	downstream_gene_variant	-	-	-	-	-	rs35978693,rs67510150,COSM1416322,COSM39683,COSM1416323,COSM1416324	DISTANCE=4392;STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000405780;TREMBL=A9UJN9,Q9UE57;UNIPARC=UPI00016110B5;GMAF=T:0.0101;AFR_MAF=T:0.04;AA_MAF=T:0.049932;EA_MAF=T:0.000233;SOMATIC=0,0,1,1,1,1
rs35978693	22:39225792	T	ENSG00000100311	ENST00000381551	Transcript	synonymous_variant	649	612	204	P	ccC/ccA	rs35978693,rs67510150,COSM1416322,COSM39683,COSM1416323,COSM1416324	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS33650.1;ENSP=ENSP00000370963;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,A0A024R1R5;UNIPARC=UPI0000160C77;EXON=6/7;HGVSc=ENST00000381551.6:c.612C>A;HGVSp=ENST00000381551.6:c.612C>A(p.%3D);GMAF=T:0.0101;AFR_MAF=T:0.04;AA_MAF=T:0.049932;EA_MAF=T:0.000233;SOMATIC=0,0,1,1,1,1
rs55634318	22:39231625	C	ENSG00000100311	ENST00000331163	Transcript	synonymous_variant	1241	453	151	V	gtC/gtG	rs55634318	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13987.1;ENSP=ENSP00000330382;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,P78450,A0A024R1R5;UNIPARC=UPI000004110E;EXON=4/7;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,Superfamily_domains:SSF57501,SMART_domains:SM00141;HGVSc=ENST00000331163.8:c.453C>G;HGVSp=ENST00000331163.8:c.453C>G(p.%3D);GMAF=C:0.0174;AFR_MAF=C:0.05;AMR_MAF=C:0.02;EUR_MAF=C:0.01;AA_MAF=C:0.037156;EA_MAF=C:0.010417;PUBMED=22433249,22817530
rs55634318	22:39231625	C	ENSG00000100311	ENST00000455790	Transcript	synonymous_variant	481	360	120	V	gtC/gtG	rs55634318	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000402306;TREMBL=A9UJN9,A9UJP0,Q9UE57;UNIPARC=UPI00016110B4;EXON=4/5;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,SMART_domains:SM00141,Superfamily_domains:SSF57501;HGVSc=ENST00000455790.3:c.360C>G;HGVSp=ENST00000455790.3:c.360C>G(p.%3D);GMAF=C:0.0174;AFR_MAF=C:0.05;AMR_MAF=C:0.02;EUR_MAF=C:0.01;AA_MAF=C:0.037156;EA_MAF=C:0.010417;PUBMED=22433249,22817530
rs55634318	22:39231625	C	ENSG00000100311	ENST00000440375	Transcript	synonymous_variant	508	360	120	V	gtC/gtG	rs55634318	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000405780;TREMBL=A9UJN9,Q9UE57;UNIPARC=UPI00016110B5;EXON=4/5;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,SMART_domains:SM00141,Superfamily_domains:SSF57501;HGVSc=ENST00000440375.1:c.360C>G;HGVSp=ENST00000440375.1:c.360C>G(p.%3D);GMAF=C:0.0174;AFR_MAF=C:0.05;AMR_MAF=C:0.02;EUR_MAF=C:0.01;AA_MAF=C:0.037156;EA_MAF=C:0.010417;PUBMED=22433249,22817530
rs55634318	22:39231625	C	ENSG00000100311	ENST00000381551	Transcript	synonymous_variant	445	408	136	V	gtC/gtG	rs55634318	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS33650.1;ENSP=ENSP00000370963;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,A0A024R1R5;UNIPARC=UPI0000160C77;EXON=4/7;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,SMART_domains:SM00141,Superfamily_domains:SSF57501;HGVSc=ENST00000381551.6:c.408C>G;HGVSp=ENST00000381551.6:c.408C>G(p.%3D);GMAF=C:0.0174;AFR_MAF=C:0.05;AMR_MAF=C:0.02;EUR_MAF=C:0.01;AA_MAF=C:0.037156;EA_MAF=C:0.010417;PUBMED=22433249,22817530
rs116555717	22:39231644	C	ENSG00000100311	ENST00000331163	Transcript	missense_variant	1222	434	145	Q/R	cAg/cGg	rs116555717	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13987.1;ENSP=ENSP00000330382;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,P78450,A0A024R1R5;UNIPARC=UPI000004110E;SIFT=tolerated(1);PolyPhen=benign(0.007);EXON=4/7;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,Superfamily_domains:SSF57501,SMART_domains:SM00141;HGVSc=ENST00000331163.8:c.434A>G;HGVSp=ENSP00000330382.6:p.Gln145Arg;AA_MAF=C:0.000456;EA_MAF=C:0
rs116555717	22:39231644	C	ENSG00000100311	ENST00000455790	Transcript	missense_variant	462	341	114	Q/R	cAg/cGg	rs116555717	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000402306;TREMBL=A9UJN9,A9UJP0,Q9UE57;UNIPARC=UPI00016110B4;SIFT=tolerated(1);PolyPhen=benign(0.007);EXON=4/5;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,SMART_domains:SM00141,Superfamily_domains:SSF57501;HGVSc=ENST00000455790.3:c.341A>G;HGVSp=ENSP00000402306.1:p.Gln114Arg;AA_MAF=C:0.000456;EA_MAF=C:0
rs116555717	22:39231644	C	ENSG00000100311	ENST00000440375	Transcript	missense_variant	489	341	114	Q/R	cAg/cGg	rs116555717	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000405780;TREMBL=A9UJN9,Q9UE57;UNIPARC=UPI00016110B5;SIFT=tolerated(1);PolyPhen=benign(0.007);EXON=4/5;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,SMART_domains:SM00141,Superfamily_domains:SSF57501;HGVSc=ENST00000440375.1:c.341A>G;HGVSp=ENSP00000405780.1:p.Gln114Arg;AA_MAF=C:0.000456;EA_MAF=C:0
rs116555717	22:39231644	C	ENSG00000100311	ENST00000381551	Transcript	missense_variant	426	389	130	Q/R	cAg/cGg	rs116555717	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS33650.1;ENSP=ENSP00000370963;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,A0A024R1R5;UNIPARC=UPI0000160C77;SIFT=tolerated(0.2);PolyPhen=benign(0.006);EXON=4/7;DOMAINS=Pfam_domain:PF00341,PROSITE_profiles:PS50278,SMART_domains:SM00141,Superfamily_domains:SSF57501;HGVSc=ENST00000381551.6:c.389A>G;HGVSp=ENSP00000370963.4:p.Gln130Arg;AA_MAF=C:0.000456;EA_MAF=C:0
rs17565	22:39231816	C	ENSG00000100311	ENST00000331163	Transcript	missense_variant	1050	262	88	I/V	Att/Gtt	rs17565	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13987.1;ENSP=ENSP00000330382;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,P78450,A0A024R1R5;UNIPARC=UPI000004110E;SIFT=tolerated(1);PolyPhen=benign(0);EXON=4/7;DOMAINS=Pfam_domain:PF04692,PROSITE_profiles:PS50278;HGVSc=ENST00000331163.8:c.262A>G;HGVSp=ENSP00000330382.6:p.Ile88Val;GMAF=C:0.0032;AFR_MAF=C:0.01;AA_MAF=C:0.005901;EA_MAF=C:0
rs17565	22:39231816	C	ENSG00000100311	ENST00000455790	Transcript	missense_variant	290	169	57	I/V	Att/Gtt	rs17565	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000402306;TREMBL=A9UJN9,A9UJP0,Q9UE57;UNIPARC=UPI00016110B4;SIFT=tolerated(0.94);PolyPhen=benign(0);EXON=4/5;DOMAINS=Pfam_domain:PF04692,PROSITE_profiles:PS50278;HGVSc=ENST00000455790.3:c.169A>G;HGVSp=ENSP00000402306.1:p.Ile57Val;GMAF=C:0.0032;AFR_MAF=C:0.01;AA_MAF=C:0.005901;EA_MAF=C:0
rs17565	22:39231816	C	ENSG00000100311	ENST00000440375	Transcript	missense_variant	317	169	57	I/V	Att/Gtt	rs17565	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=4;ENSP=ENSP00000405780;TREMBL=A9UJN9,Q9UE57;UNIPARC=UPI00016110B5;SIFT=tolerated(0.91);PolyPhen=benign(0);EXON=4/5;DOMAINS=Pfam_domain:PF04692,PROSITE_profiles:PS50278;HGVSc=ENST00000440375.1:c.169A>G;HGVSp=ENSP00000405780.1:p.Ile57Val;GMAF=C:0.0032;AFR_MAF=C:0.01;AA_MAF=C:0.005901;EA_MAF=C:0
rs17565	22:39231816	C	ENSG00000100311	ENST00000381551	Transcript	missense_variant	254	217	73	I/V	Att/Gtt	rs17565	STRAND=-1;SYMBOL=PDGFB;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8800;BIOTYPE=protein_coding;TSL=5;CCDS=CCDS33650.1;ENSP=ENSP00000370963;SWISSPROT=P01127;TREMBL=A9UJN9,Q9UE56,A9UJP0,Q9UE57,A0A024R1R5;UNIPARC=UPI0000160C77;SIFT=tolerated(0.96);PolyPhen=benign(0);EXON=4/7;DOMAINS=Pfam_domain:PF04692,PROSITE_profiles:PS50278;HGVSc=ENST00000381551.6:c.217A>G;HGVSp=ENSP00000370963.4:p.Ile73Val;GMAF=C:0.0032;AFR_MAF=C:0.01;AA_MAF=C:0.005901;EA_MAF=C:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000328933	Transcript	synonymous_variant	282	267	89	D	gaC/gaT	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13989.1;ENSP=ENSP00000332287;SWISSPROT=O43759;UNIPARC=UPI000013C6CB;EXON=2/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF011282;HGVSc=ENST00000328933.7:c.267C>T;HGVSp=ENST00000328933.7:c.267C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000318801	Transcript	synonymous_variant	353	267	89	D	gaC/gaT	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13990.1;ENSP=ENSP00000318845;SWISSPROT=O43759;UNIPARC=UPI000002B3E3;EXON=2/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000318801.6:c.267C>T;HGVSp=ENST00000318801.6:c.267C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000489206	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	272	-	-	-	-	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=retained_intron;TSL=2;EXON=2/2;HGVSc=ENST00000489206.1:n.272C>T;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000415332	Transcript	synonymous_variant,NMD_transcript_variant	291	267	89	D	gaC/gaT	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=nonsense_mediated_decay;TSL=3;ENSP=ENSP00000412442;TREMBL=F8WCE4;UNIPARC=UPI00016110BF;EXON=2/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000415332.1:c.267C>T;HGVSp=ENST00000415332.1:c.267C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000406293	Transcript	synonymous_variant	287	267	89	D	gaC/gaT	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385447;TREMBL=B5MCD7;UNIPARC=UPI00016110C0;EXON=2/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000406293.5:c.267C>T;HGVSp=ENST00000406293.5:c.267C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000216155	Transcript	synonymous_variant	329	267	89	D	gaC/gaT	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000216155;TREMBL=A2A283;UNIPARC=UPI00002077AB;EXON=2/3;DOMAINS=Transmembrane_helices:Tmhmm,Pfam_domain:PF01284;HGVSc=ENST00000216155.9:c.267C>T;HGVSp=ENST00000216155.9:c.267C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	ENSG00000100321	ENST00000381535	Transcript	synonymous_variant	295	270	90	D	gaC/gaT	rs114689408	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13991.1;ENSP=ENSP00000370946;SWISSPROT=O43759;UNIPARC=UPI000002B3E4;EXON=2/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000381535.4:c.270C>T;HGVSp=ENST00000381535.4:c.270C>T(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs114689408	22:39374483	T	-	ENSR00000618404	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs114689408	BIOTYPE=CTCF_binding_site;GMAF=T:0.0005;AFR_MAF=T:0.0020;AA_MAF=T:0.001362;EA_MAF=T:0
rs35429467	22:39374495	A	ENSG00000100321	ENST00000328933	Transcript	synonymous_variant	294	279	93	P	ccG/ccA	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13989.1;ENSP=ENSP00000332287;SWISSPROT=O43759;UNIPARC=UPI000013C6CB;EXON=2/4;DOMAINS=Pfam_domain:PF01284,PIRSF_domain:PIRSF011282;HGVSc=ENST00000328933.7:c.279G>A;HGVSp=ENST00000328933.7:c.279G>A(p.%3D);GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	ENSG00000100321	ENST00000318801	Transcript	synonymous_variant	365	279	93	P	ccG/ccA	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13990.1;ENSP=ENSP00000318845;SWISSPROT=O43759;UNIPARC=UPI000002B3E3;EXON=2/4;DOMAINS=Pfam_domain:PF01284;HGVSc=ENST00000318801.6:c.279G>A;HGVSp=ENST00000318801.6:c.279G>A(p.%3D);GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	ENSG00000100321	ENST00000489206	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	284	-	-	-	-	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=retained_intron;TSL=2;EXON=2/2;HGVSc=ENST00000489206.1:n.284G>A;GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	ENSG00000100321	ENST00000415332	Transcript	synonymous_variant,NMD_transcript_variant	303	279	93	P	ccG/ccA	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=nonsense_mediated_decay;TSL=3;ENSP=ENSP00000412442;TREMBL=F8WCE4;UNIPARC=UPI00016110BF;EXON=2/4;DOMAINS=Pfam_domain:PF01284;HGVSc=ENST00000415332.1:c.279G>A;HGVSp=ENST00000415332.1:c.279G>A(p.%3D);GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	ENSG00000100321	ENST00000406293	Transcript	synonymous_variant	299	279	93	P	ccG/ccA	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385447;TREMBL=B5MCD7;UNIPARC=UPI00016110C0;EXON=2/4;DOMAINS=Pfam_domain:PF01284;HGVSc=ENST00000406293.5:c.279G>A;HGVSp=ENST00000406293.5:c.279G>A(p.%3D);GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	ENSG00000100321	ENST00000216155	Transcript	synonymous_variant	341	279	93	P	ccG/ccA	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000216155;TREMBL=A2A283;UNIPARC=UPI00002077AB;EXON=2/3;DOMAINS=Pfam_domain:PF01284;HGVSc=ENST00000216155.9:c.279G>A;HGVSp=ENST00000216155.9:c.279G>A(p.%3D);GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	ENSG00000100321	ENST00000381535	Transcript	synonymous_variant	307	282	94	P	ccG/ccA	rs35429467	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13991.1;ENSP=ENSP00000370946;SWISSPROT=O43759;UNIPARC=UPI000002B3E4;EXON=2/4;DOMAINS=Pfam_domain:PF01284;HGVSc=ENST00000381535.4:c.282G>A;HGVSp=ENST00000381535.4:c.282G>A(p.%3D);GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs35429467	22:39374495	A	-	ENSR00000618404	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs35429467	BIOTYPE=CTCF_binding_site;GMAF=A:0.0046;AFR_MAF=A:0.02;AMR_MAF=A:0.0028;AA_MAF=A:0.009305;EA_MAF=A:0.000116
rs114671146	22:39376089	T	ENSG00000100321	ENST00000328933	Transcript	synonymous_variant	390	375	125	Y	taC/taT	rs114671146	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13989.1;ENSP=ENSP00000332287;SWISSPROT=O43759;UNIPARC=UPI000013C6CB;EXON=3/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm,PIRSF_domain:PIRSF011282;HGVSc=ENST00000328933.7:c.375C>T;HGVSp=ENST00000328933.7:c.375C>T(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000100321	ENST00000318801	Transcript	synonymous_variant	461	375	125	Y	taC/taT	rs114671146	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13990.1;ENSP=ENSP00000318845;SWISSPROT=O43759;UNIPARC=UPI000002B3E3;EXON=3/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000318801.6:c.375C>T;HGVSp=ENST00000318801.6:c.375C>T(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000280216	ENST00000623458	Transcript	upstream_gene_variant	-	-	-	-	-	rs114671146	DISTANCE=3521;STRAND=1;SYMBOL=RP3-333H23.9;SYMBOL_SOURCE=Clone_based_vega_gene;BIOTYPE=TEC;CANONICAL=YES;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000100321	ENST00000489206	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	1878	-	-	-	-	rs114671146	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=retained_intron;TSL=2;EXON=2/2;HGVSc=ENST00000489206.1:n.1878C>T;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000100321	ENST00000415332	Transcript	3_prime_UTR_variant,NMD_transcript_variant	506	-	-	-	-	rs114671146	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=nonsense_mediated_decay;TSL=3;ENSP=ENSP00000412442;TREMBL=F8WCE4;UNIPARC=UPI00016110BF;EXON=3/4;HGVSc=ENST00000415332.1:c.*47C>T;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000100321	ENST00000406293	Transcript	synonymous_variant	395	375	125	Y	taC/taT	rs114671146	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=2;ENSP=ENSP00000385447;TREMBL=B5MCD7;UNIPARC=UPI00016110C0;EXON=3/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000406293.5:c.375C>T;HGVSp=ENST00000406293.5:c.375C>T(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000100321	ENST00000216155	Transcript	downstream_gene_variant	-	-	-	-	-	rs114671146	DISTANCE=56;STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=3;ENSP=ENSP00000216155;TREMBL=A2A283;UNIPARC=UPI00002077AB;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114671146	22:39376089	T	ENSG00000100321	ENST00000381535	Transcript	synonymous_variant	403	378	126	Y	taC/taT	rs114671146	STRAND=1;SYMBOL=SYNGR1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11498;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS13991.1;ENSP=ENSP00000370946;SWISSPROT=O43759;UNIPARC=UPI000002B3E4;EXON=3/4;DOMAINS=Pfam_domain:PF01284,Transmembrane_helices:Tmhmm;HGVSc=ENST00000381535.4:c.378C>T;HGVSp=ENST00000381535.4:c.378C>T(p.%3D);GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.007944;EA_MAF=T:0
rs114948690	22:39743860	G	ENSG00000176177	ENST00000325157	Transcript	missense_variant	1894	1643	548	I/T	aTt/aCt	rs114948690	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;SIFT=tolerated(0.16);PolyPhen=benign(0.017);EXON=7/7;HGVSc=ENST00000325157.6:c.1643T>C;HGVSp=ENSP00000317431.6:p.Ile548Thr;GMAF=G:0.0000;AA_MAF=G:0.007717;EA_MAF=G:0.000233
rs112945971	22:39744158	A	ENSG00000176177	ENST00000325157	Transcript	synonymous_variant	1596	1345	449	L	Ctg/Ttg	rs112945971	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;EXON=7/7;HGVSc=ENST00000325157.6:c.1345C>T;HGVSp=ENST00000325157.6:c.1345C>T(p.%3D);GMAF=A:0.0009;AFR_MAF=A:0.0041;AA_MAF=A:0.000454;EA_MAF=A:0
rs114600441	22:39744186	C	ENSG00000176177	ENST00000325157	Transcript	synonymous_variant	1568	1317	439	P	ccA/ccG	rs114600441	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;EXON=7/7;HGVSc=ENST00000325157.6:c.1317A>G;HGVSp=ENST00000325157.6:c.1317A>G(p.%3D);GMAF=C:0.0005;AFR_MAF=C:0.0020
rs115673469	22:39744223	G	ENSG00000176177	ENST00000325157	Transcript	missense_variant	1531	1280	427	L/S	tTa/tCa	rs115673469	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;SIFT=tolerated(1);PolyPhen=benign(0.004);EXON=7/7;HGVSc=ENST00000325157.6:c.1280T>C;HGVSp=ENSP00000317431.6:p.Leu427Ser;GMAF=G:0.0005;AFR_MAF=G:0.0020
rs115302874	22:39744238	G	ENSG00000176177	ENST00000325157	Transcript	missense_variant	1516	1265	422	M/T	aTg/aCg	rs115302874	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;SIFT=tolerated(0.08);PolyPhen=benign(0.044);EXON=7/7;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000325157.6:c.1265T>C;HGVSp=ENSP00000317431.6:p.Met422Thr;GMAF=G:0.0005;AFR_MAF=G:0.0020
rs111738363	22:39765567	G	ENSG00000176177	ENST00000325157	Transcript	missense_variant	1126	875	292	R/T	aGa/aCa	rs111738363,COSM3964335	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;SIFT=tolerated(1);PolyPhen=benign(0);EXON=6/7;HGVSc=ENST00000325157.6:c.875G>C;HGVSp=ENSP00000317431.6:p.Arg292Thr;GMAF=G:0.0009;AFR_MAF=G:0.0041;AA_MAF=G:0.000454;EA_MAF=G:0;SOMATIC=0,1
rs115492335	22:39821109	G	ENSG00000176177	ENST00000325157	Transcript	missense_variant	967	716	239	L/P	cTg/cCg	rs115492335	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;SIFT=deleterious(0.05);PolyPhen=benign(0.405);EXON=5/7;HGVSc=ENST00000325157.6:c.716T>C;HGVSp=ENSP00000317431.6:p.Leu239Pro;GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.006809;EA_MAF=G:0
rs115492335	22:39821109	G	-	ENSR00001532816	RegulatoryFeature	regulatory_region_variant	-	-	-	-	-	rs115492335	BIOTYPE=promoter_flanking_region;GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.006809;EA_MAF=G:0
rs116765273	22:39835855	G	ENSG00000176177	ENST00000325157	Transcript	synonymous_variant	947	696	232	G	ggT/ggC	rs116765273	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;EXON=4/7;HGVSc=ENST00000325157.6:c.696T>C;HGVSp=ENST00000325157.6:c.696T>C(p.%3D);GMAF=G:0.0005;AFR_MAF=G:0.0020;AA_MAF=G:0.000227;EA_MAF=G:0.000116
rs114100360	22:39835936	A	ENSG00000176177	ENST00000325157	Transcript	missense_variant	866	615	205	L/F	ttG/ttT	rs114100360	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;SIFT=tolerated(0.07);PolyPhen=benign(0.048);EXON=4/7;HGVSc=ENST00000325157.6:c.615G>T;HGVSp=ENSP00000317431.6:p.Leu205Phe;GMAF=A:0.0005;AFR_MAF=A:0.0020;AA_MAF=T:0.000227;EA_MAF=T:0
rs114714334	22:39861847	T	ENSG00000176177	ENST00000325157	Transcript	synonymous_variant	761	510	170	A	gcG/gcA	rs114714334	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;EXON=3/7;HGVSc=ENST00000325157.6:c.510G>A;HGVSp=ENST00000325157.6:c.510G>A(p.%3D);GMAF=T:0.0005;AFR_MAF=T:0.0020
rs75296456	22:39862000	G	ENSG00000176177	ENST00000325157	Transcript	synonymous_variant	608	357	119	Y	taT/taC	rs75296456	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;EXON=3/7;DOMAINS=Pfam_domain:PF01417,PROSITE_profiles:PS50942,SMART_domains:SM00273,Superfamily_domains:SSF48464;HGVSc=ENST00000325157.6:c.357T>C;HGVSp=ENST00000325157.6:c.357T>C(p.%3D);GMAF=G:0.0046;AFR_MAF=G:0.02;AA_MAF=G:0.019973;EA_MAF=G:0.000116
rs8139570	22:39887557	G	ENSG00000176177	ENST00000325157	Transcript	synonymous_variant	443	192	64	H	caT/caC	rs8139570	STRAND=-1;SYMBOL=ENTHD1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26352;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS13998.1;ENSP=ENSP00000317431;SWISSPROT=Q8IYW4;UNIPARC=UPI00000741D2;EXON=2/7;DOMAINS=Pfam_domain:PF01417,Pfam_domain:PF00790,PROSITE_profiles:PS50942,SMART_domains:SM00273,Superfamily_domains:SSF48464;HGVSc=ENST00000325157.6:c.192T>C;HGVSp=ENST00000325157.6:c.192T>C(p.%3D);GMAF=G:0.0055;AFR_MAF=G:0.02;AA_MAF=G:0.036314;EA_MAF=G:0.000116
rs115365592	22:40019319	T	ENSG00000133477	ENST00000473717	Transcript	missense_variant	589	137	46	T/I	aCt/aTt	rs115365592	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;SIFT=tolerated(0.08);PolyPhen=benign(0.222);EXON=2/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000473717.1:c.137C>T;HGVSp=ENSP00000476600.1:p.Thr46Ile;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.002497;EA_MAF=T:0
rs115365592	22:40019319	T	ENSG00000133477	ENST00000333407	Transcript	missense_variant	735	641	214	T/I	aCt/aTt	rs115365592	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;SIFT=tolerated(0.08);PolyPhen=benign(0.222);EXON=2/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000333407.8:c.641C>T;HGVSp=ENSP00000330432.5:p.Thr214Ile;GMAF=T:0.0014;AFR_MAF=T:0.01;AA_MAF=T:0.002497;EA_MAF=T:0
rs12330063	22:40019964	T	ENSG00000133477	ENST00000473717	Transcript	missense_variant	683	231	77	R/S	agG/agT	rs12330063	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.672);EXON=3/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000473717.1:c.231G>T;HGVSp=ENSP00000476600.1:p.Arg77Ser;GMAF=T:0.0051;AFR_MAF=T:0.02;AA_MAF=T:0.033818;EA_MAF=T:0.000116
rs12330063	22:40019964	T	ENSG00000133477	ENST00000333407	Transcript	missense_variant	829	735	245	R/S	agG/agT	rs12330063	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.672);EXON=3/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000333407.8:c.735G>T;HGVSp=ENSP00000330432.5:p.Arg245Ser;GMAF=T:0.0051;AFR_MAF=T:0.02;AA_MAF=T:0.033818;EA_MAF=T:0.000116
rs116438980	22:40019984	G	ENSG00000133477	ENST00000473717	Transcript	missense_variant	703	251	84	D/G	gAc/gGc	rs116438980	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;SIFT=deleterious(0);PolyPhen=probably_damaging(0.952);EXON=3/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000473717.1:c.251A>G;HGVSp=ENSP00000476600.1:p.Asp84Gly;GMAF=G:0.0014;AFR_MAF=G:0.0041;AMR_MAF=G:0.0028;AA_MAF=G:0.011575;EA_MAF=G:0
rs116438980	22:40019984	G	ENSG00000133477	ENST00000333407	Transcript	missense_variant	849	755	252	D/G	gAc/gGc	rs116438980	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.952);EXON=3/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000333407.8:c.755A>G;HGVSp=ENSP00000330432.5:p.Asp252Gly;GMAF=G:0.0014;AFR_MAF=G:0.0041;AMR_MAF=G:0.0028;AA_MAF=G:0.011575;EA_MAF=G:0
rs115837035	22:40021368	A	ENSG00000133477	ENST00000473717	Transcript	synonymous_variant	806	354	118	T	acG/acA	rs115837035	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;EXON=4/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000473717.1:c.354G>A;HGVSp=ENST00000473717.1:c.354G>A(p.%3D);GMAF=A:0.0018;AFR_MAF=A:0.01;AA_MAF=A:0.001816;EA_MAF=A:0.000349
rs115837035	22:40021368	A	ENSG00000133477	ENST00000333407	Transcript	synonymous_variant	952	858	286	T	acG/acA	rs115837035	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;EXON=4/5;DOMAINS=Pfam_domain:PF07894,Superfamily_domains:SSF56024;HGVSc=ENST00000333407.8:c.858G>A;HGVSp=ENST00000333407.8:c.858G>A(p.%3D);GMAF=A:0.0018;AFR_MAF=A:0.01;AA_MAF=A:0.001816;EA_MAF=A:0.000349
rs11914082	22:40021491	T	ENSG00000133477	ENST00000473717	Transcript	synonymous_variant	929	477	159	Y	taC/taT	rs11914082	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;EXON=4/5;HGVSc=ENST00000473717.1:c.477C>T;HGVSp=ENST00000473717.1:c.477C>T(p.%3D);GMAF=T:0.0069;AFR_MAF=T:0.03;EUR_MAF=T:0.0013;AA_MAF=T:0.042669;EA_MAF=T:0.000349
rs11914082	22:40021491	T	ENSG00000133477	ENST00000333407	Transcript	synonymous_variant	1075	981	327	Y	taC/taT	rs11914082	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;EXON=4/5;HGVSc=ENST00000333407.8:c.981C>T;HGVSp=ENST00000333407.8:c.981C>T(p.%3D);GMAF=T:0.0069;AFR_MAF=T:0.03;EUR_MAF=T:0.0013;AA_MAF=T:0.042669;EA_MAF=T:0.000349
rs5995793	22:40021776	T	ENSG00000133477	ENST00000473717	Transcript	synonymous_variant	1214	762	254	N	aaC/aaT	rs5995793,COSM3759215	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;EXON=4/5;HGVSc=ENST00000473717.1:c.762C>T;HGVSp=ENST00000473717.1:c.762C>T(p.%3D);GMAF=T:0.2365;AFR_MAF=T:0.37;AMR_MAF=T:0.17;ASN_MAF=T:0.08;EUR_MAF=T:0.30;AA_MAF=T:0.336591;EA_MAF=T:0.288855;SOMATIC=0,1
rs5995793	22:40021776	T	ENSG00000133477	ENST00000333407	Transcript	synonymous_variant	1360	1266	422	N	aaC/aaT	rs5995793,COSM3759215	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;EXON=4/5;HGVSc=ENST00000333407.8:c.1266C>T;HGVSp=ENST00000333407.8:c.1266C>T(p.%3D);GMAF=T:0.2365;AFR_MAF=T:0.37;AMR_MAF=T:0.17;ASN_MAF=T:0.08;EUR_MAF=T:0.30;AA_MAF=T:0.336591;EA_MAF=T:0.288855;SOMATIC=0,1
rs115818503	22:40021790	T	ENSG00000133477	ENST00000473717	Transcript	missense_variant	1228	776	259	A/V	gCg/gTg	rs115818503	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;SIFT=tolerated(0.23);PolyPhen=benign(0.04);EXON=4/5;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000473717.1:c.776C>T;HGVSp=ENSP00000476600.1:p.Ala259Val;AA_MAF=T:0.008186;EA_MAF=T:0.000116
rs115818503	22:40021790	T	ENSG00000133477	ENST00000333407	Transcript	missense_variant	1374	1280	427	A/V	gCg/gTg	rs115818503	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;SIFT=tolerated(0.29);PolyPhen=benign(0.04);EXON=4/5;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000333407.8:c.1280C>T;HGVSp=ENSP00000330432.5:p.Ala427Val;AA_MAF=T:0.008186;EA_MAF=T:0.000116
rs5995794	22:40021816	G	ENSG00000133477	ENST00000473717	Transcript	missense_variant	1254	802	268	R/G	Agg/Ggg	rs5995794,COSM445024	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;TSL=1;ENSP=ENSP00000476600;SWISSPROT=Q8NEG4;UNIPARC=UPI00001B033B;SIFT=deleterious(0);PolyPhen=benign(0.11);EXON=4/5;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000473717.1:c.802A>G;HGVSp=ENSP00000476600.1:p.Arg268Gly;GMAF=G:0.2291;AFR_MAF=G:0.34;AMR_MAF=G:0.17;ASN_MAF=G:0.08;EUR_MAF=G:0.30;AA_MAF=G:0.271136;EA_MAF=G:0.279614;SOMATIC=0,1
rs5995794	22:40021816	G	ENSG00000133477	ENST00000333407	Transcript	missense_variant	1400	1306	436	R/G	Agg/Ggg	rs5995794,COSM445024	STRAND=1;SYMBOL=FAM83F;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25148;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14000.2;ENSP=ENSP00000330432;SWISSPROT=Q8NEG4;UNIPARC=UPI0000071BF1;SIFT=deleterious(0);PolyPhen=benign(0.11);EXON=4/5;DOMAINS=Low_complexity_(Seg):Seg;HGVSc=ENST00000333407.8:c.1306A>G;HGVSp=ENSP00000330432.5:p.Arg436Gly;GMAF=G:0.2291;AFR_MAF=G:0.34;AMR_MAF=G:0.17;ASN_MAF=G:0.08;EUR_MAF=G:0.30;AA_MAF=G:0.271136;EA_MAF=G:0.279614;SOMATIC=0,1
rs115264708	22:44891338	C	ENSG00000056487	ENST00000396103	Transcript	missense_variant	1003	821	274	Y/C	tAt/tGt	rs115264708	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS56234.1;ENSP=ENSP00000379410;SWISSPROT=Q96EK2;TREMBL=B3KTL5,B1AHC5,B0QYW2,B1AHC6;UNIPARC=UPI0001914E18;SIFT=tolerated(0.07);PolyPhen=benign(0.012);EXON=8/13;HGVSc=ENST00000396103.5:c.821A>G;HGVSp=ENSP00000379410.4:p.Tyr274Cys;GMAF=C:0.0041;AFR_MAF=C:0.02;AA_MAF=C:0.009305;EA_MAF=C:0
rs115264708	22:44891338	C	ENSG00000056487	ENST00000313237	Transcript	missense_variant	1134	983	328	Y/C	tAt/tGt	rs115264708	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14061.1;ENSP=ENSP00000324403;SWISSPROT=Q96EK2;TREMBL=B3KTL5;UNIPARC=UPI0000072111;SIFT=deleterious(0.04);PolyPhen=benign(0.013);EXON=8/13;HGVSc=ENST00000313237.7:c.983A>G;HGVSp=ENSP00000324403.5:p.Tyr328Cys;GMAF=C:0.0041;AFR_MAF=C:0.02;AA_MAF=C:0.009305;EA_MAF=C:0
rs115264708	22:44891338	C	ENSG00000056487	ENST00000414269	Transcript	missense_variant	515	371	124	Y/C	tAt/tGt	rs115264708	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401091;TREMBL=B1AHC6;UNIPARC=UPI000165DDD9;SIFT=deleterious(0.05);PolyPhen=benign(0.005);EXON=6/7;HGVSc=ENST00000414269.1:c.371A>G;HGVSp=ENSP00000401091.1:p.Tyr124Cys;GMAF=C:0.0041;AFR_MAF=C:0.02;AA_MAF=C:0.009305;EA_MAF=C:0
rs115264708	22:44891338	C	ENSG00000056487	ENST00000403565	Transcript	missense_variant	1049	371	124	Y/C	tAt/tGt	rs115264708	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63504.1;ENSP=ENSP00000385053;TREMBL=B3KTL5,B1AHC5,B1AHC6;UNIPARC=UPI00003E2896;SIFT=deleterious(0.05);PolyPhen=benign(0.005);EXON=9/14;HGVSc=ENST00000403565.3:c.371A>G;HGVSp=ENSP00000385053.1:p.Tyr124Cys;GMAF=C:0.0041;AFR_MAF=C:0.02;AA_MAF=C:0.009305;EA_MAF=C:0
rs6519902	22:44916364	A	ENSG00000056487	ENST00000420689	Transcript	synonymous_variant	619	444	148	A	gcC/gcT	rs6519902,COSM1416758	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401294;TREMBL=B0QYW2;UNIPARC=UPI000165DBE7;EXON=4/5;HGVSc=ENST00000420689.1:c.444C>T;HGVSp=ENST00000420689.1:c.444C>T(p.%3D);GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000396103	Transcript	synonymous_variant	626	444	148	A	gcC/gcT	rs6519902,COSM1416758	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS56234.1;ENSP=ENSP00000379410;SWISSPROT=Q96EK2;TREMBL=B3KTL5,B1AHC5,B0QYW2,B1AHC6;UNIPARC=UPI0001914E18;EXON=4/13;HGVSc=ENST00000396103.5:c.444C>T;HGVSp=ENST00000396103.5:c.444C>T(p.%3D);GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000460507	Transcript	downstream_gene_variant	-	-	-	-	-	rs6519902,COSM1416758	DISTANCE=91;STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000313237	Transcript	synonymous_variant	631	480	160	A	gcC/gcT	rs6519902,COSM1416758	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14061.1;ENSP=ENSP00000324403;SWISSPROT=Q96EK2;TREMBL=B3KTL5;UNIPARC=UPI0000072111;EXON=4/13;HGVSc=ENST00000313237.7:c.480C>T;HGVSp=ENST00000313237.7:c.480C>T(p.%3D);GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000490679	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	510	-	-	-	-	rs6519902,COSM1416758	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=4;EXON=4/4;HGVSc=ENST00000490679.3:n.510C>T;GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000414269	Transcript	5_prime_UTR_variant	138	-	-	-	-	rs6519902,COSM1416758	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401091;TREMBL=B1AHC6;UNIPARC=UPI000165DDD9;EXON=2/7;HGVSc=ENST00000414269.1:c.-7C>T;GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000474327	Transcript	downstream_gene_variant	-	-	-	-	-	rs6519902,COSM1416758	DISTANCE=231;STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs6519902	22:44916364	A	ENSG00000056487	ENST00000403565	Transcript	5_prime_UTR_variant	672	-	-	-	-	rs6519902,COSM1416758	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63504.1;ENSP=ENSP00000385053;TREMBL=B3KTL5,B1AHC5,B1AHC6;UNIPARC=UPI00003E2896;EXON=5/14;HGVSc=ENST00000403565.3:c.-7C>T;GMAF=A:0.1217;AFR_MAF=A:0.32;AMR_MAF=A:0.09;ASN_MAF=A:0.01;EUR_MAF=A:0.09;AA_MAF=A:0.272500;EA_MAF=A:0.105680;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000420689	Transcript	synonymous_variant	589	414	138	Y	taC/taT	rs115694109,COSM4104703	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401294;TREMBL=B0QYW2;UNIPARC=UPI000165DBE7;EXON=4/5;HGVSc=ENST00000420689.1:c.414C>T;HGVSp=ENST00000420689.1:c.414C>T(p.%3D);GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000396103	Transcript	synonymous_variant	596	414	138	Y	taC/taT	rs115694109,COSM4104703	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS56234.1;ENSP=ENSP00000379410;SWISSPROT=Q96EK2;TREMBL=B3KTL5,B1AHC5,B0QYW2,B1AHC6;UNIPARC=UPI0001914E18;EXON=4/13;HGVSc=ENST00000396103.5:c.414C>T;HGVSp=ENST00000396103.5:c.414C>T(p.%3D);GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000460507	Transcript	downstream_gene_variant	-	-	-	-	-	rs115694109,COSM4104703	DISTANCE=61;STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=5;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000313237	Transcript	synonymous_variant	601	450	150	Y	taC/taT	rs115694109,COSM4104703	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14061.1;ENSP=ENSP00000324403;SWISSPROT=Q96EK2;TREMBL=B3KTL5;UNIPARC=UPI0000072111;EXON=4/13;HGVSc=ENST00000313237.7:c.450C>T;HGVSp=ENST00000313237.7:c.450C>T(p.%3D);GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000490679	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	480	-	-	-	-	rs115694109,COSM4104703	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=4;EXON=4/4;HGVSc=ENST00000490679.3:n.480C>T;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000414269	Transcript	5_prime_UTR_variant	108	-	-	-	-	rs115694109,COSM4104703	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401091;TREMBL=B1AHC6;UNIPARC=UPI000165DDD9;EXON=2/7;HGVSc=ENST00000414269.1:c.-37C>T;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000474327	Transcript	downstream_gene_variant	-	-	-	-	-	rs115694109,COSM4104703	DISTANCE=201;STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=3;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs115694109	22:44916394	A	ENSG00000056487	ENST00000403565	Transcript	5_prime_UTR_variant	642	-	-	-	-	rs115694109,COSM4104703	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63504.1;ENSP=ENSP00000385053;TREMBL=B3KTL5,B1AHC5,B1AHC6;UNIPARC=UPI00003E2896;EXON=5/14;HGVSc=ENST00000403565.3:c.-37C>T;GMAF=A:0.0032;AFR_MAF=A:0.01;AA_MAF=A:0.002047;EA_MAF=A:0;SOMATIC=0,1
rs8135982	22:44916465	T	ENSG00000056487	ENST00000420689	Transcript	missense_variant	518	343	115	G/S	Ggc/Agc	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401294;TREMBL=B0QYW2;UNIPARC=UPI000165DBE7;SIFT=tolerated(0.31);PolyPhen=benign(0.011);EXON=4/5;HGVSc=ENST00000420689.1:c.343G>A;HGVSp=ENSP00000401294.1:p.Gly115Ser;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000396103	Transcript	missense_variant	525	343	115	G/S	Ggc/Agc	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS56234.1;ENSP=ENSP00000379410;SWISSPROT=Q96EK2;TREMBL=B3KTL5,B1AHC5,B0QYW2,B1AHC6;UNIPARC=UPI0001914E18;SIFT=tolerated(0.34);PolyPhen=benign(0.013);EXON=4/13;HGVSc=ENST00000396103.5:c.343G>A;HGVSp=ENSP00000379410.4:p.Gly115Ser;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000460507	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	498	-	-	-	-	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=5;EXON=4/4;HGVSc=ENST00000460507.3:n.498G>A;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000313237	Transcript	missense_variant	530	379	127	G/S	Ggc/Agc	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14061.1;ENSP=ENSP00000324403;SWISSPROT=Q96EK2;TREMBL=B3KTL5;UNIPARC=UPI0000072111;SIFT=tolerated(0.34);PolyPhen=benign(0.097);EXON=4/13;HGVSc=ENST00000313237.7:c.379G>A;HGVSp=ENSP00000324403.5:p.Gly127Ser;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000490679	Transcript	non_coding_transcript_exon_variant,non_coding_transcript_variant	409	-	-	-	-	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=4;EXON=4/4;HGVSc=ENST00000490679.3:n.409G>A;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000414269	Transcript	intron_variant	-	-	-	-	-	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401091;TREMBL=B1AHC6;UNIPARC=UPI000165DDD9;INTRON=1/6;HGVSc=ENST00000414269.1:c.-93-15G>A;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000474327	Transcript	downstream_gene_variant	-	-	-	-	-	rs8135982	DISTANCE=130;STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=3;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs8135982	22:44916465	T	ENSG00000056487	ENST00000403565	Transcript	5_prime_UTR_variant	571	-	-	-	-	rs8135982	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63504.1;ENSP=ENSP00000385053;TREMBL=B3KTL5,B1AHC5,B1AHC6;UNIPARC=UPI00003E2896;EXON=5/14;HGVSc=ENST00000403565.3:c.-108G>A;GMAF=T:0.0735;AFR_MAF=T:0.14;AMR_MAF=T:0.07;EUR_MAF=T:0.08;AA_MAF=T:0.125912;EA_MAF=T:0.062835
rs114043304	22:44920488	G	ENSG00000056487	ENST00000420689	Transcript	splice_region_variant,synonymous_variant	262	87	29	A	gcT/gcC	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401294;TREMBL=B0QYW2;UNIPARC=UPI000165DBE7;EXON=3/5;HGVSc=ENST00000420689.1:c.87T>C;HGVSp=ENST00000420689.1:c.87T>C(p.%3D)
rs114043304	22:44920488	G	ENSG00000056487	ENST00000396103	Transcript	splice_region_variant,synonymous_variant	269	87	29	A	gcT/gcC	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS56234.1;ENSP=ENSP00000379410;SWISSPROT=Q96EK2;TREMBL=B3KTL5,B1AHC5,B0QYW2,B1AHC6;UNIPARC=UPI0001914E18;EXON=3/13;HGVSc=ENST00000396103.5:c.87T>C;HGVSp=ENST00000396103.5:c.87T>C(p.%3D)
rs114043304	22:44920488	G	ENSG00000056487	ENST00000460507	Transcript	splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant	242	-	-	-	-	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=5;EXON=3/4;HGVSc=ENST00000460507.3:n.242T>C
rs114043304	22:44920488	G	ENSG00000056487	ENST00000313237	Transcript	splice_region_variant,synonymous_variant	274	123	41	A	gcT/gcC	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;CANONICAL=YES;TSL=1;CCDS=CCDS14061.1;ENSP=ENSP00000324403;SWISSPROT=Q96EK2;TREMBL=B3KTL5;UNIPARC=UPI0000072111;EXON=3/13;HGVSc=ENST00000313237.7:c.123T>C;HGVSp=ENST00000313237.7:c.123T>C(p.%3D)
rs114043304	22:44920488	G	ENSG00000056487	ENST00000490679	Transcript	splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant	153	-	-	-	-	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=4;EXON=3/4;HGVSc=ENST00000490679.3:n.153T>C
rs114043304	22:44920488	G	ENSG00000056487	ENST00000414269	Transcript	intron_variant	-	-	-	-	-	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=5;ENSP=ENSP00000401091;TREMBL=B1AHC6;UNIPARC=UPI000165DDD9;INTRON=1/6;HGVSc=ENST00000414269.1:c.-93-4038T>C
rs114043304	22:44920488	G	ENSG00000056487	ENST00000474327	Transcript	splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant	212	-	-	-	-	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=processed_transcript;TSL=3;EXON=4/5;HGVSc=ENST00000474327.3:n.212T>C
rs114043304	22:44920488	G	ENSG00000056487	ENST00000403565	Transcript	splice_region_variant,5_prime_UTR_variant	315	-	-	-	-	rs114043304	STRAND=-1;SYMBOL=PHF21B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25161;BIOTYPE=protein_coding;TSL=2;CCDS=CCDS63504.1;ENSP=ENSP00000385053;TREMBL=B3KTL5,B1AHC5,B1AHC6;UNIPARC=UPI00003E2896;EXON=4/14;HGVSc=ENST00000403565.3:c.-364T>C
rs35195493	22:50177576	G	ENSG00000073150	ENST00000402472	Transcript	3_prime_UTR_variant,NMD_transcript_variant	885	-	-	-	-	rs35195493	STRAND=1;SYMBOL=PANX2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8600;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000384148;TREMBL=F8W8Y4;UNIPARC=UPI000173A362;EXON=3/5;HGVSc=ENST00000402472.2:c.*651C>G;GMAF=G:0.0055;AFR_MAF=G:0.02;AA_MAF=G:0.010227;EA_MAF=G:0
rs35195493	22:50177576	G	ENSG00000073150	ENST00000159647	Transcript	synonymous_variant	864	864	288	R	cgC/cgG	rs35195493	STRAND=1;SYMBOL=PANX2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8600;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS54544.1;ENSP=ENSP00000159647;SWISSPROT=Q96RD6;UNIPARC=UPI000173A361;EXON=2/4;DOMAINS=PROSITE_profiles:PS51013;HGVSc=ENST00000159647.7:c.864C>G;HGVSp=ENST00000159647.7:c.864C>G(p.%3D);GMAF=G:0.0055;AFR_MAF=G:0.02;AA_MAF=G:0.010227;EA_MAF=G:0
rs35195493	22:50177576	G	ENSG00000073150	ENST00000395842	Transcript	synonymous_variant	864	864	288	R	cgC/cgG	rs35195493	STRAND=1;SYMBOL=PANX2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8600;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS14085.2;ENSP=ENSP00000379183;SWISSPROT=Q96RD6;TREMBL=Q495U3,Q6ICA1,B3KTT7;UNIPARC=UPI0000E070D3;EXON=2/3;DOMAINS=PROSITE_profiles:PS51013;HGVSc=ENST00000395842.2:c.864C>G;HGVSp=ENST00000395842.2:c.864C>G(p.%3D);GMAF=G:0.0055;AFR_MAF=G:0.02;AA_MAF=G:0.010227;EA_MAF=G:0
rs5771206	22:50178377	G	ENSG00000073150	ENST00000402472	Transcript	3_prime_UTR_variant,NMD_transcript_variant	1686	-	-	-	-	rs5771206,COSM3749777,COSM3749776	STRAND=1;SYMBOL=PANX2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8600;BIOTYPE=nonsense_mediated_decay;TSL=2;ENSP=ENSP00000384148;TREMBL=F8W8Y4;UNIPARC=UPI000173A362;EXON=3/5;HGVSc=ENST00000402472.2:c.*1452A>G;GMAF=A:0.4366;AFR_MAF=G:0.52;AMR_MAF=G:0.57;ASN_MAF=G:0.48;EUR_MAF=G:0.65;SOMATIC=0,1,1
rs5771206	22:50178377	G	ENSG00000073150	ENST00000159647	Transcript	synonymous_variant	1665	1665	555	L	ctA/ctG	rs5771206,COSM3749777,COSM3749776	STRAND=1;SYMBOL=PANX2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8600;BIOTYPE=protein_coding;TSL=1;CCDS=CCDS54544.1;ENSP=ENSP00000159647;SWISSPROT=Q96RD6;UNIPARC=UPI000173A361;EXON=2/4;HGVSc=ENST00000159647.7:c.1665A>G;HGVSp=ENST00000159647.7:c.1665A>G(p.%3D);GMAF=A:0.4366;AFR_MAF=G:0.52;AMR_MAF=G:0.57;ASN_MAF=G:0.48;EUR_MAF=G:0.65;SOMATIC=0,1,1
rs5771206	22:50178377	G	ENSG00000073150	ENST00000395842	Transcript	synonymous_variant	1665	1665	555	L	ctA/ctG	rs5771206,COSM3749777,COSM3749776	STRAND=1;SYMBOL=PANX2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8600;BIOTYPE=protein_coding;CANONICAL=YES;TSL=2;CCDS=CCDS14085.2;ENSP=ENSP00000379183;SWISSPROT=Q96RD6;TREMBL=Q495U3,Q6ICA1,B3KTT7;UNIPARC=UPI0000E070D3;EXON=2/3;HGVSc=ENST00000395842.2:c.1665A>G;HGVSp=ENST00000395842.2:c.1665A>G(p.%3D);GMAF=A:0.4366;AFR_MAF=G:0.52;AMR_MAF=G:0.57;ASN_MAF=G:0.48;EUR_MAF=G:0.65;SOMATIC=0,1,1
rs142545439	1:965338-965341	-	ENSG00000187961	ENST00000466300	Transcript	downstream_gene_variant	-	-	-	-	-	rs142545439	IMPACT=MODIFIER;DISTANCE=808;STRAND=1;AFR_MAF=-:0.0340;AMR_MAF=-:0.4942;EAS_MAF=-:0.3512;EUR_MAF=-:0.6233;SAS_MAF=-:0.4980
