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. Author manuscript; available in PMC: 2015 Jun 1.
Published in final edited form as: Nat Med. 2014 Oct 19;20(12):1472–1478. doi: 10.1038/nm.3733

Table 1. Blood-specific mutations in 9 recurrently mutated genes identified in TCGA cases.

Asterisks indicate nonsense mutations. VAF is defined as the proportion of reads supporting the variant allele. 11 cancer types were investigated in this study: BRCA (breast adenocarcinoma), GBM (glioblastoma multiforme), HNSC (head and neck squamous cell carcinoma), KIRC (kidney renal clear cell carcinoma), LGG (brain low grade glioma), LUAD (lung adenocarcinoma), LUSC (lung squamous cell carcinoma), OV (ovarian carcinoma), PRAD (prostate adenocarcinoma), STAD (stomach adenocarcinoma), and UCEC (uterine corpus endometrioid carcinoma).

Gene Mutation Case
Gene Mutation Case
Type Age VAF Type Age VAF






DNMT3A p.R882C GBM 81 15.79% JAK2 p.V617F GBM 57 21.52%
STAD 60 18.29% GBM 72 73.39%
STAD 69 12.17% KIRC 59 28.57%
p.R882H BRCA 62 21.43% LGG 45 15.87%
GBM 64 35.56% LUAD 72 27.62%
LUSC 76 31.91% LUAD 76 41.62%
e13+1 KIRC 79 15.94% UCEC 59 35.90%
LUAD 76 11.11% UCEC 74 42.92%
p.E469* GBM 72 20.60% ASXL1 p.Q575* LUAD 75 20%
p.F851fs BRCA 64 34.88% p.Q733* LUAD 72 14.29%
p.K577fs HNSC 72 24.14% p.Q733fs UCEC 81 27.27%
p.N516fs LUSC 71 33.33% p.R548fs LUAD 76 35.03%
p.S770* STAD 75 16.03% p.Y591* STAD 65 17.88%
p.W314* UCEC 74 22.06% p.Y591fs LUSC 56 29.70%
p.Y584fs GBM 75 38% TP53 p.C275Y OV 52 14.29%
e12–1 PRAD 60 35.79% p.Q136* LUAD null 18%
e21–2 GBM 76 11.81% p.Q144* STAD 62 15.96%
e22–1 UCEC 77 33.85% p.R273L LUAD 70 34.62%
TET2 p.F381fs GBM 83 50% GNAS p.R202H GBM 76 14.44%
p.H863fs GBM 64 11.67% HNSC 59 11.54%
p.K889* OV 85 15.09% LUAD 69 21.43%
p.Q531* KIRC 48 11.90% PPM1D p.Q520* BRCA 79 35.42%
p.Q644* UCEC 89 16.78% p.S468* UCEC 49 21.23%
p.Q764fs GBM 75 33.01% BCORL1 p.G883E LUAD null 16.67%
p.Q831fs LUAD 75 26.42% p.S264* PRAD 56 22.45%
p.Q888* GBM 83 20.39% SF3B1 p.K700E GBM 89 13.86%
p.R550* LUAD 76 16.25% KIRC 77 43.04%
p.T229fs GBM 72 19.05%