Data sources¶

• Ensembl version 64 (september 2011):

  All the transcript and protein identifiers correspond to this version of Ensembl as well as all the external references: Hugo symbol, Swissprot ID and Accession, RefSeq.

• dbNSFP 2.1

  dbNSFP is a database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) in the human genome. We use it to get the following predictors (see also the version included in dbNSFP):

  • SIFT: Human_db_37_ensembl_63, released Auguest, 2011 http://sift.jcvi.org/
  • PolyPhen 2: v2.2.2, released Feb, 2012 http://genetics.bwh.harvard.edu/pph2/
  • MutationAssessor: release 2 http://mutationassessor.org/
  • FATHMM for disease: v2.3 http://fathmm.biocompute.org.uk

Note that the FATHMM for cancer we calculate directly from the data and tools provided by the authors.