##fileformat=VCFv4.0
##VEP=v76 cache=/data_ensembl/vep/grch37/release-76/homo_sapiens/76_GRCh37 db=homo_sapiens_core_76_37@ensembldb.ensembl.org
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence type as predicted by VEP. Format: Allele|Gene|Feature|Feature_type|Consequence|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|SYMBOL|SYMBOL_SOURCE|HGNC_ID|BIOTYPE|SIFT|PolyPhen|DOMAINS|HGVSc|HGVSp|GMAF|AFR_MAF|AMR_MAF|ASN_MAF|EUR_MAF|AA_MAF|EA_MAF|CLIN_SIG|SOMATIC|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
22	20138003	.	CTCCTGCTCCAGCT	CGA	.	.	CSQ=GA|ENSG00000099904|ENST00000405930|Transcript|downstream_gene_variant|||||||2475|1|ZDHHC8|HGNC||protein_coding||||||||||||||||||,GA|ENSG00000234409|ENST00000444532|Transcript|upstream_gene_variant|||||||578|-1|AC006547.14|Clone_based_vega_gene||retained_intron||||||||||||||||||,GA|ENSG00000234409|ENST00000439765|Transcript|frameshift_variant&feature_truncation|384-396|386-398|129-133|||||-1|AC006547.14|Clone_based_vega_gene||protein_coding|||Coiled-coils_(Ncoils):ncoils|ENST00000439765.2:c.384_396delAGCTGGAGCAGGAinsTC|ENSP00000409542.1:p.Gln129LeufsTer87|||||||||||||,GA|ENSG00000234409|ENST00000540078|Transcript|frameshift_variant&feature_truncation|287-299|287-299|96-100|||||-1|AC006547.14|Clone_based_vega_gene||protein_coding|||Coiled-coils_(Ncoils):ncoils|ENST00000540078.1:c.287_299delAGCTGGAGCAGGAinsTC|ENSP00000445668.1:p.Gln96LeufsTer87|||||||||||||,GA|ENSG00000099904|ENST00000320602|Transcript|downstream_gene_variant|||||||4031|1|ZDHHC8|HGNC||protein_coding||||||||||||||||||,GA|ENSG00000099904|ENST00000334554|Transcript|downstream_gene_variant|||||||2474|1|ZDHHC8|HGNC||protein_coding||||||||||||||||||,GA||ENSR00000291555|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
22	20710051	.	ACGCCGTCCAGGGCGTCGCTAACGAGGTC	AT	.	.	CSQ=T|ENSG00000188280|ENST00000583722|Transcript|downstream_gene_variant|||||||3267|1|FAM230A|HGNC||protein_coding||||||||||||||||||,T|ENSG00000161133|ENST00000454608|Transcript|intron_variant&feature_truncation||||||||-1|USP41|HGNC||protein_coding||||ENST00000454608.2:c.*3-4858_*3-4831delGACCTCGTTAGCGACGCCCTGGACGGCGinsA||||||||||||||,T|ENSG00000161133|ENST00000486536|Transcript|intron_variant&nc_transcript_variant&feature_truncation||||||||-1|USP41|HGNC|20070|processed_transcript||||ENST00000486536.2:n.835-4858_835-4831delGACCTCGTTAGCGACGCCCTGGACGGCGinsA||||||||||||||,T||ENSR00001531265|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
22	20780025	.	CGCGGCG	CCGCGGCCC	.	.	CSQ=CGCGGCCC|ENSG00000244486|ENST00000405555|Transcript|frameshift_variant&feature_elongation|2303-2308|2232-2237|744-746|||||-1|SCARF2|HGNC|19869|protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50099|ENST00000405555.3:c.2232_2237delCGCCGCinsGGGCCGCG|ENSP00000385589.3:p.Ala745GlyfsTer194|||||||||||||,CGCGGCCC|ENSG00000244486|ENST00000266214|Transcript|frameshift_variant&feature_elongation|2352-2357|2247-2252|749-751|||||-1|SCARF2|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50099|ENST00000266214.5:c.2247_2252delCGCCGCinsGGGCCGCG|ENSP00000266214.5:p.Ala750GlyfsTer194|||||||||||||,CGCGGCCC|ENSG00000099910|ENST00000429594|Transcript|downstream_gene_variant|||||||3497|-1|KLHL22|HGNC|25888|nonsense_mediated_decay||||||||||||||||||,CGCGGCCC|ENSG00000244486|ENST00000494535|Transcript|downstream_gene_variant|||||||343|-1|SCARF2|HGNC||retained_intron||||||||||||||||||
22	23047143	.	GCCCCT	GTCTGATATAC	.	.	CSQ=TCTGATATAC|ENSG00000253546|ENST00000521183|Transcript|downstream_gene_variant|||||||3689|1|IGLVVI-22-1|HGNC|15689|IG_V_pseudogene||||||||||||||||||,TCTGATATAC|ENSG00000211661|ENST00000390307|Transcript|frameshift_variant&feature_elongation|246-250|182-186|61-62|||||1|IGLV3-22|HGNC|5906|IG_V_gene|||Pfam_domain:PF07686&Pfam_domain:PF00047&PROSITE_profiles:PS50835&SMART_domains:SM00409&SMART_domains:SM00406&Superfamily_domains:SSF48726|ENST00000390307.2:c.182_186delCCCCTinsTCTGATATAC|ENSP00000374842.2:p.Ala61ValfsTer2|||||||||||||
22	23047145	.	CCCT	CTGATATAC	.	.	CSQ=TGATATAC|ENSG00000253546|ENST00000521183|Transcript|downstream_gene_variant|||||||3691|1|IGLVVI-22-1|HGNC|15689|IG_V_pseudogene||||||||||||||||||,TGATATAC|ENSG00000211661|ENST00000390307|Transcript|frameshift_variant&feature_elongation|248-250|184-186|62|||||1|IGLV3-22|HGNC|5906|IG_V_gene|||Pfam_domain:PF07686&Pfam_domain:PF00047&PROSITE_profiles:PS50835&SMART_domains:SM00409&SMART_domains:SM00406&Superfamily_domains:SSF48726|ENST00000390307.2:c.184_186delCCTinsTGATATAC|ENSP00000374842.2:p.Pro62Ter|||||||||||||
22	23047145	.	C	CTGATA	.	.	MQ=0;CSQ=TGATA|ENSG00000253546|ENST00000521183|Transcript|downstream_gene_variant||||||rs370918329|3690|1|IGLVVI-22-1|HGNC|15689|IG_V_pseudogene||||||||||||||||||,TGATA|ENSG00000211661|ENST00000390307|Transcript|frameshift_variant&feature_elongation|247-248|183-184|61-62|||rs370918329||1|IGLV3-22|HGNC|5906|IG_V_gene|||Pfam_domain:PF07686&Pfam_domain:PF00047&PROSITE_profiles:PS50835&SMART_domains:SM00409&SMART_domains:SM00406&Superfamily_domains:SSF48726|ENST00000390307.2:c.183_184insTGATA|ENSP00000374842.2:p.Pro62Ter|||||||||||||
22	23498328	.	CCAAGAC	CTGAGAAAACCACTGAGAAAACA	.	.	CSQ=TGAGAAAACCACTGAGAAAACA|ENSG00000100228|ENST00000341989|Transcript|intron_variant&feature_elongation||||||||1|RAB36|HGNC||protein_coding||||ENST00000341989.4:c.526+110_526+115delCAAGACinsTGAGAAAACCACTGAGAAAACA||||||||||||||,TGAGAAAACCACTGAGAAAACA|ENSG00000100228|ENST00000420895|Transcript|frameshift_variant&feature_elongation|385-390|387-392|129-131|||||1|RAB36|HGNC||protein_coding|||SMART_domains:SM00175|ENST00000420895.1:c.385_390delCAAGACinsTGAGAAAACCACTGAGAAAACA|ENSP00000397594.1:p.Lys130GlufsTer37|||||||||||||,TGAGAAAACCACTGAGAAAACA|ENSG00000100228|ENST00000263116|Transcript|intron_variant&feature_elongation||||||||1|RAB36|HGNC|9775|protein_coding||||ENST00000263116.2:c.592+110_592+115delCAAGACinsTGAGAAAACCACTGAGAAAACA||||||||||||||
22	23498328	.	C	CTGAGAAAACCACTGAG	.	.	MQ=0;CSQ=TGAGAAAACCACTGAG|ENSG00000100228|ENST00000341989|Transcript|intron_variant&feature_elongation||||||rs55675235||1|RAB36|HGNC||protein_coding||||ENST00000341989.4:c.526+109_526+110insTGAGAAAACCACTGAG||||||||||||||,TGAGAAAACCACTGAG|ENSG00000100228|ENST00000420895|Transcript|frameshift_variant&feature_elongation|384-385|386-387|129|||rs55675235||1|RAB36|HGNC||protein_coding|||SMART_domains:SM00175|ENST00000420895.1:c.384_385insTGAGAAAACCACTGAG|ENSP00000397594.1:p.Lys130GlufsTer37|||||||||||||,TGAGAAAACCACTGAG|ENSG00000100228|ENST00000263116|Transcript|intron_variant&feature_elongation||||||rs55675235||1|RAB36|HGNC|9775|protein_coding||||ENST00000263116.2:c.592+109_592+110insTGAGAAAACCACTGAG||||||||||||||
