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Basic variant consequence annotation
Insilico predictions of effect of coding variants
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dBNSFP -
database of non-synonymous functional predictions (v4.2, March
2021)
Variant frequency databases
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gnomAD - germline
variant frequencies exome-wide (r2.1, October 2018)
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dbSNP - database of
short genetic variants (build 154)
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Cancer Hotspots - a resource
for statistically significant mutations in cancer (v2, 2017)
Variant databases of clinical utility
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ClinVar -
database of clinically related variants (February 2022)
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CIViC - clinical interpretations
of variants in cancer (February 1st 2022)
Protein domains/functional features
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UniProt/SwissProt KnowledgeBase
- resource on protein sequence and functional information (2021_04,
November 2021)
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Pfam - database of protein
families and domains (v35.0, November 2021)
Cancer gene knowledge bases
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CancerMine -
Literature-mined database of tumor suppressor genes/proto-oncogenes
(v42, December 2021)
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Genomics England
PanelApp - cancer phenotype panels as of February 2nd 2022
