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TypeData sources
genome
  • Ensembl
gene
  • Ensembl
  • DGIdb
  • UniProt gene mappings
  • Gene Expression Atlas
  • HPO gene annotation
  • GNomad
variation **
  • 1000 genomes
  • ExAC
  • GoNL
  • UK10K
  • ESP
variation_functional_score
  • CADD
regulation
  • Ensembl
protein
  • UniProt
  • InterPro
  • Polyphen/Sift
conservation **
  • PhaseCons
  • PhyloP
  • GERP++
clinical_variants **
  • ClinVar
  • COSMIC
  • HPO
  • DisGeNET
repeats
  • UCSC
svs
  • DGV
all **Downloads all of the above

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