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blog_spotlight_variants_vep.vcf
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blog_spotlight_variants_vep.vcf
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##fileformat=VCFv4.0
##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|AA_MAF|EA_MAF|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|DISTANCE|STRAND|CLIN_SIG|SYMBOL|SYMBOL_SOURCE|GMAF|BIOTYPE|HGVSc|HGVSp|AFR_MAF|AMR_MAF|ASN_MAF|EUR_MAF">
#CHROM POS ID REF ALT QUAL FILTER INFO
7 117105835 . TTTT T . . CSQ=-|ENSG00000001626|ENST00000546407|Transcript|non_coding_exon_variant&nc_transcript_variant&feature_truncation|?-1|||||||||||||1||CFTR|HGNC||processed_transcript|||||| GT 0/1
7 117119513 . C CA . . CSQ=A|ENSG00000001626|ENST00000446805|Transcript|splice_region_variant&intron_variant&feature_elongation||||||||||||||1||CFTR|HGNC||protein_coding|ENST00000446805.1:c.-423-3_-423-2insA|||||,A|ENSG00000001626|ENST00000426809|Transcript|upstream_gene_variant|||||||||||||635|1||CFTR|HGNC||protein_coding||||||,A|ENSG00000001626|ENST00000454343|Transcript|upstream_gene_variant|||||||||||||503|1||CFTR|HGNC||protein_coding||||||,A|ENSG00000001626|ENST00000546407|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||||||||1||CFTR|HGNC||processed_transcript|ENST00000546407.1:n.166+3651_166+3652insA|||||,A|ENSG00000001626|ENST00000003084|Transcript|upstream_gene_variant|||||||||||||503|1||CFTR|HGNC||protein_coding|||||| GT 0/1
7 117120154 . A AT . . CSQ=T|ENSG00000001626|ENST00000446805|Transcript|intron_variant&feature_elongation||||||||||||||1||CFTR|HGNC||protein_coding|ENST00000446805.1:c.-191+406_-191+407insT|||||,T|ENSG00000001626|ENST00000426809|Transcript|frameshift_variant&feature_elongation|6-7|6-7|2-3|||||||||||1||CFTR|HGNC||protein_coding|ENST00000426809.1:c.6_7insT|ENSP00000389119.1:p.Arg3Ter||||,T|ENSG00000001626|ENST00000454343|Transcript|frameshift_variant&feature_elongation|138-139|6-7|2-3|||||||||||1||CFTR|HGNC||protein_coding|ENST00000454343.1:c.6_7insT|ENSP00000403677.1:p.Arg3Ter||||,T|ENSG00000001626|ENST00000546407|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||||||||1||CFTR|HGNC||processed_transcript|ENST00000546407.1:n.166+4292_166+4293insT|||||,T|ENSG00000001626|ENST00000003084|Transcript|frameshift_variant&feature_elongation|138-139|6-7|2-3|||||||||||1||CFTR|HGNC||protein_coding|ENST00000003084.6:c.6_7insT|ENSP00000003084.6:p.Arg3Ter|||| GT 0/1
7 117144417 . G GATG . . CSQ=ATG|ENSG00000001626|ENST00000446805|Transcript|splice_region_variant&5_prime_UTR_variant&feature_elongation|386-387|||||||||||||1||CFTR|HGNC||protein_coding|ENST00000446805.1:c.-80_-80+1insATG|||||,ATG|ENSG00000001626|ENST00000426809|Transcript|stop_gained&inframe_insertion&splice_region_variant|164-165|164-165|55|R/R*|aga/agATGa|||||||||1||CFTR|HGNC||protein_coding|ENST00000426809.1:c.164_164+1insATG|ENSP00000389119.1:p.Arg55_Glu56insTer||||,ATG|ENSG00000001626|ENST00000454343|Transcript|stop_gained&inframe_insertion&splice_region_variant|296-297|164-165|55|R/R*|aga/agATGa|||||||||1||CFTR|HGNC||protein_coding|ENST00000454343.1:c.164_164+1insATG|ENSP00000403677.1:p.Arg55_Glu56insTer||||,ATG|ENSG00000001626|ENST00000546407|Transcript|downstream_gene_variant|||||||||||||55|1||CFTR|HGNC||processed_transcript||||||,ATG|ENSG00000001626|ENST00000003084|Transcript|stop_gained&inframe_insertion&splice_region_variant|296-297|164-165|55|R/R*|aga/agATGa|||||||||1||CFTR|HGNC||protein_coding|ENST00000003084.6:c.164_164+1insATG|ENSP00000003084.6:p.Arg55_Glu56insTer|||| GT 0/1
7 117307123 . AGAG A . . CSQ=-|ENSG00000001626|ENST00000426809|Transcript|incomplete_terminal_codon_variant&coding_sequence_variant&3_prime_UTR_variant&feature_truncation|4315-?|4315-?|1439-?|||||||||||1||CFTR|HGNC||protein_coding||||||,-|ENSG00000001626|ENST00000454343|Transcript|inframe_deletion|4354-4356|4222-4224|1408|E/-|GAG/-|||||||||1||CFTR|HGNC||protein_coding|ENST00000454343.1:c.4222_4224delGAG|ENSP00000403677.1:p.Glu1408del||||,-|ENSG00000001626|ENST00000003084|Transcript|inframe_deletion|4537-4539|4405-4407|1469|E/-|GAG/-|||||||||1||CFTR|HGNC||protein_coding|ENST00000003084.6:c.4405_4407delGAG|ENSP00000003084.6:p.Glu1469del||||,-|ENSG00000001626|ENST00000600166|Transcript|intron_variant&feature_truncation||||||||||||||1||CFTR|HGNC||protein_coding|ENST00000600166.1:c.368+1506_368+1508delGAG||||| GT 0/1
7 117307159 . TT T . . CSQ=-|ENSG00000001626|ENST00000426809|Transcript|downstream_gene_variant|||||||||||||35|1||CFTR|HGNC||protein_coding||||||,-|ENSG00000001626|ENST00000454343|Transcript|frameshift_variant&stop_lost&feature_truncation|4390|4258|1420|||||||||||1||CFTR|HGNC||protein_coding|ENST00000454343.1:c.4258delT|ENSP00000403677.1:p.Ter1420Arg||||,-|ENSG00000001626|ENST00000003084|Transcript|frameshift_variant&stop_lost&feature_truncation|4573|4441|1481|||||||||||1||CFTR|HGNC||protein_coding|ENST00000003084.6:c.4441delT|ENSP00000003084.6:p.Ter1481Arg||||,-|ENSG00000001626|ENST00000600166|Transcript|intron_variant&feature_truncation||||||||||||||1||CFTR|HGNC||protein_coding|ENST00000600166.1:c.368+1542delT||||| GT 0/1