Table 1

Summary of WES analysis and identification of segregating novel predicted damaging/deleterious variants in a Dutch melanoma family

GeneChangeChRefAltType*SIFTPolyphenMAF†
GPATCH3 p.Gly131Arg1CTMissenseDeleteriousprobably_ damaging0.00006168
ATPIF1 p.Arg94His1GAMissenseDeleteriousprobably_ damaging0.00004406
KALRN p.Ser1629Cys3CGMissenseDeleteriousprobably_ damaging0.00002641
NEK11 p.Arg374Ter3CTStop-gained0.00002641
ZNF192 p.Arg66Ter6CTStop-gained0.000008791
GPR111 p.Ser168Arg6TAMissenseDeleteriousprobably_ damaging0.00006486
GPAM p.Pro403Thr10GTMissenseDeleteriousprobably_ damaging0.000008794
NELL1 p.Val755Met11GAMissenseDeleteriousprobably_ damaging0.0002261
KRT77 p.Asp316Asn12CTMissenseDeleteriousprobably_ damaging0.00001502
OAS2 p.Tyr269Cys12AGMissenseDeleteriousprobably_ damaging
DNAJC3 p.Arg346Gln13GAMissenseDeleteriousprobably_ damaging0.0001553
TEP1 p.Arg1386Trp14GAMissenseDeleteriouspossibly_ damaging0.001266
PLCB2 p.Arg253Trp15GAMissenseDeleteriousprobably_ damaging0.001074
DNASE1 p.Ala168Val16CTMissenseDeleteriouspossibly_ damaging0.001402
BFAR p.Phe53Ile16TAMissenseDeleteriouspossibly_ damaging
ITGB4 p.Arg556Cys17CTMissenseDeleteriouspossibly_ damaging0.0006357
PSG7 p.Trp67Ser19CGMissenseDeleteriousprobably_ damaging0.0001473
GPR50 p.Gly93AlaXGCMissenseDeleteriouspossibly_ damaging0.00001240
GABRQ p.Arg254CysXCTMissenseDeleteriousprobably_ damaging0.00007713
  • *Variants characterised by ExAC/gnomAD/Genome of The Netherlands/Ensembl databases.

  • †MAF in European (Non-Finnish) population.

  • WES, whole-exome sequencing.