Genomic Annotations

• Gene, transcript, and functional consequence annotations using GENCODE for hg19.
• Reference sequence around a variant.
• GC content around a variant.
• Human DNA Repair Gene annotations from Wood et al.

Protein Annotations

• Site-specific protein annotations from UniProt.
• Functional impact predictions from dbNSFP.

Cancer Variant Annotations

• Observed cancer mutation frequency annotations from COSMIC.
• Cancer gene and mutation annotations from the Cancer GenCensus.
• Overlapping mutations from the Cancer Cell Line Encyclopedia.
• Cancer gene annotations from the Familial Cancer Database.
• Cancer variant annotations from ClinVar.

Non-Cancer Variant Annotations

• Common SNP annotations from dbSNP.
• Variant annotations from 1000 Genomes.
• Variant annotations from NHLBI GO Exome Sequencing Project (ESP).