##fileformat=VCFv4.0
##reference=GRCh37
##INFO=<ID=CLNALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN (from ClinVar)">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB (from ClinVar)">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.(from ClinVar)">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant (from ClinVar)">
##INFO=<ID=EXAC_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from ExAC r1)">
##INFO=<ID=EXAC_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from ExAC r1)">
##INFO=<ID=EXAC_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from ExAC r1)">
##INFO=<ID=EXAC_FILTER,Number=1,Type=String,Description="calculated by self of overlapping values in field FILTER (from ExAC r1)">
##INFO=<ID=GNOMAD_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from gnomAD v2.1.1 )">
##INFO=<ID=HGVD_AAF,Number=A,Type=Float,Description="Alternative Allele Frequency(s) NA/(NR+NAtotal) (from HGVD/DBexome20170802)">
##INFO=<ID=HGVD_AC,Number=A,Type=Integer,Description="number(s) of alternative allele(s) (from HGVD/DBexome20170802)">
##INFO=<ID=HGVD_NR,Number=1,Type=Integer,Description="number of reference allele (from HGVD/DBexome20170802)">
##INFO=<ID=TOMMO_4_7K_AC,Number=A,Type=Integer,Description="Allele count in genotypes (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=TOMMO_4_7K_AF,Number=A,Type=Float,Description="Allele frequency, for each ALT allele, in the same order as listed (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=TOMMO_4_7K_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=dbSNP_RSID,Number=1,Type=String,Description="dbSNP ID (from dbSNP b151 )">
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:)">
##INFO=<ID=DPVID,Number=.,Type=String,Description="DPV Variant ID">
##INFO=<ID=DPVSIG,Number=.,Type=String,Description="Variant Clinical Significance">
##INFO=<ID=DPVDSDBID,Number=.,Type=String,Description="Variant disease database ID">
##INFO=<ID=DPVDBN,Number=.,Type=String,Description="Variant disease name">
##INFO=<ID=DPVHGVS,Number=.,Type=String,Description="Variant in HGVS.">
#CHROM POS ID REF ALT QUAL FILTER INFO
14 73664775 NC_000014.8:g.73664775G>A G A . . EXAC_AF=8.236e-06;EXAC_AC=1;EXAC_AN=121412;GNOMAD_AF=3.9872e-06;GNOMAD_AC=1;GNOMAD_AN=250804;TOMMO_4_7K_AF=0.0001;TOMMO_4_7K_AC=1;TOMMO_4_7K_AN=9546;CLNALLELEID=46864;CLNDN=Frontotemporal_dementia|Pick_disease|Alzheimer_disease,_type_4|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822|MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737|MedGen:CN517202;CLNSIG=Pathogenic;CLNHGVS=NC_000014.8:g.73664775G>A;GENEINFO=9508:5663;DPVID=497;DPVSIG=Pathogenic;DPVDSDBID=OMIM:104300|OMIM:607822;DPVDBN=Alzheimer_disease_1|Alzheimer_disease_3;DPVHGVS=NC_000014.8:g.73664775G>A .
##fileformat=VCFv4.0
##reference=GRCh38
##INFO=<ID=CLNALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN (from ClinVar)">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB (from ClinVar)">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.(from ClinVar)">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant (from ClinVar)">
##INFO=<ID=GNOMAD_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from gnomAD v2.1.1 )">
##INFO=<ID=dbSNP_RSID,Number=1,Type=String,Description="dbSNP ID (from dbSNP b151 )">
##originalFile=</tmp/crossmap-input-pl8ml9x4>
##targetRefGenome=</usr/lib64/python2.7/site-packages/transvar/transvar.download/hg38.fa>
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:)">
##INFO=<ID=DPVID,Number=.,Type=String,Description="DPV Variant ID">
##INFO=<ID=DPVSIG,Number=.,Type=String,Description="Variant Clinical Significance">
##INFO=<ID=DPVDSDBID,Number=.,Type=String,Description="Variant disease database ID">
##INFO=<ID=DPVDBN,Number=.,Type=String,Description="Variant disease name">
##INFO=<ID=DPVHGVS,Number=.,Type=String,Description="Variant in HGVS.">
#CHROM POS ID REF ALT QUAL FILTER INFO
14 73198067 NC_000014.8:g.73664775G>A G A . . dbSNP_RSID=rs63750900;GNOMAD_AF=3.9872e-06;GNOMAD_AC=1;GNOMAD_AN=250804;CLNALLELEID=46864;CLNDN=Frontotemporal_dementia|Pick's_disease|Alzheimer_disease,_type_4|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822|MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737|MedGen:CN517202;CLNSIG=Pathogenic;CLNHGVS=NC_000014.9:g.73198067G>A;GENEINFO=9508:5663;DPVID=497;DPVSIG=Pathogenic;DPVDSDBID=OMIM:104300|OMIM:607822;DPVDBN=Alzheimer_disease_1|Alzheimer_disease_3;DPVHGVS=NC_000014.9:g.73198067G>A .