Runtime filters |
--no_intergenic |
Filter out variants that fall in intergenic regions |
--pick |
Choose one consequence for each variant; priority is given to the canonical transcript for each gene, protein coding transcripts, and more severe consequence types e.g., missense_variant is more severe than intron_variant |
--per_gene |
Picks one consequence using the same methodology as --pick but chooses one per overlapping gene |
--filter_common |
Filter out variants that are co-located with a known variant that has a minor allele frequency greater than 1 %. |
Results filters using filter_vep.pl |
SIFT is deleterious OR PolyPhen is probably_damaging |
Filter for results where SIFT or PolyPhen-2 predicts the variant protein will be non-functional |
AFR >0.1 AND EUR <0.05 |
Filter for variants co-located with those that are common in African populations but rare in European populations |
Gene in gene_list.txt AND Phenotype matches cancer |
Filter for results for variants that fall in the genes with IDs listed in gene_list.txt and that have been annotated with a cancer phenotype from a custom dataset (VEP script only) |