CPSR annotation resources

Basic variant consequence annotation

  • VEP v104 - Variant Effect Predictor (GENCODE v38 as gene reference database (v19 for grch37))

Insilico predictions of effect of coding variants

  • dBNSFP - database of non-synonymous functional predictions (v4.2, March 2021)

Variant frequency databases

  • gnomAD - germline variant frequencies exome-wide (r2.1, October 2018)
  • dbSNP - database of short genetic variants (build 154)
  • Cancer Hotspots - a resource for statistically significant mutations in cancer (v2, 2017)

Variant databases of clinical utility

  • ClinVar - database of clinically related variants (June 2021)
  • CIViC - clinical interpretations of variants in cancer (June 15th 2021)

Protein domains/functional features

  • UniProt/SwissProt KnowledgeBase - resource on protein sequence and functional information (2021_03, June 2021)
  • Pfam - database of protein families and domains (v34.0, March 2021)

Cancer gene knowledge bases

Phenotype ontologies