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2.0.7

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@MichaelStromberg MichaelStromberg released this 04 Apr 18:22

Description

  • Fixed a bug related to sample variant frequencies at reference minor allele sites
  • Fixed a bug related to gene fusion endpoints landing in a transcript region gap in RefSeq transcripts

Data sources

  • Ensembl build 91 (originally from VEP)
  • RefSeq build 91 (originally from VEP)
  • ClinVar (2018-01-29)
  • COSMIC (v84)
  • dbSNP (v150)
  • 1000 Genomes Project (Phase 3 v5a)
  • ExAC pLI, pNull, pRec (0.3.1)
  • gnomAD (2.0.2)
  • MITOMAP (2018-02-28)
  • phyloP (2009-11-10)
  • DGV (2016-05-15)
  • ClinGen (2016-04-14)
  • OMIM (2018-02-13)