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how to run vcf2maf with clinvar db

Open songeric1107 opened this issue 1 year ago • 2 comments

I have vcf files which are generated using freebay, how could I add the clinvar annotation to the vcf and convert to maf?

I try to run as following

vep --input_file JH020.soma.freebayes.vcf --output_file JH020.soma.clinc.freebayes.vcf --format vcf --species homo_sapiens --custom /vep_ref/hg19/new/clinvar.vcf.gz,ClinVar,vcf,exact,0,CLNSIG,CLNREVSTAT,CLNSIGCONF

all the variant are intergenic_variant, which is not right

songeric1107 avatar Aug 25 '22 18:08 songeric1107

You are using VEP, not vcf2maf. But I'll try to help. If all the variants are showing as intergenic, then it is likely that you are using a transcript/reference that is a different human assembly than your VCF. E.g. hg19 VCF with hg38 VEP cache.

ckandoth avatar Aug 25 '22 23:08 ckandoth

yes, I have tried to add the option to vcf2maf with the customed database which points to clinvar, but always failed. What is the best way to add the clinvar in vcf2maf?

songeric1107 avatar Aug 26 '22 02:08 songeric1107