cache 1 dir_cache /data assembly 'GRCh38' offline 1 force_overwrite 1 custom file=/opt/vep/.vep/Cosmic_GenomeScreensMutant_v103_GRCh38.vcf.gz,short_name=COSMIC,format=vcf,type=exact,fields=LEGACY_ID%CNT # Functional impact predictions sift b # CALCULATE 1 - score polyphen b # THESE TWO CAN BE AVERAGED plugin REVEL,/opt/vep/.vep/REVEL/new_tabbed_revel_grch38.tsv.gz # TODO: CALCUALTE THEIR L2 NORM # plugin CADD,/opt/vep/.vep/CADD/GRCh38/whole_genome_SNVs.tsv.gz,/opt/vep/.vep/CADD/GRCh38/InDels.tsv.gz # Clinical significance check_existing clinvar # Allele frequencies af af_1kg af_gnomade af_gnomadg max_af # Additional useful flags numbers hgvs symbol canonical