Somatic mutations

Somatic mutation data refers to mutations that may have clinical or treatment implications in cancer and possibly other diseases. This data type is obtained from the four data sources highlighted below.

Cancer Gene Census

Cancer Gene Census is a collection of genes for which mutations have been causally implicated in cancer. The Catalogue of Somatic Mutations in Cancer (COSMIC) at the Wellcome Sanger Institute provides us with the set of genes associated with specific cancers in the Cancer Gene Census, in addition to other cancers associated with that gene in the COSMIC database. The exhaustive curation of the Cancer Gene Census genes is merged with genome-wide annotations from whole genome and large-scale systematic screens publications as well as open-access data from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC).

UniProt somatic

UniProt manually curates somatic mutations from the literature for the associations between genes and cancers.

European Variation Archive (EVA)

The EMBL-EBI European Variation Archive (EVA) provides data on somatic mutations in both cancer and other diseases.

IntOGen

​IntOGen integrates seven methods to identify driver genes based on mutational data from sequenced tumor samples from patients. We have imported the 2020.02.01 update that includes data from 28,076 samples across 67 cancer types, including tumours of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium.