Table 2

Sanger sequencing confirmed somatic mutations with increased frequencies in tumor samples
Position Gene name Mutation type Mutant allele frequency from exome sequencing cDNA change Protein change Polyphen score Mutant allele frequency from sanger sequencing
OV OMN REC OV OMN REC
chr10:106124579 CCDC147 nonsynonymous SNV 0.31 0.45 0.52 c.G529T p.A177S 0.29 0.40 0.71 0.76
chr17:38173081 CSF3 nonsynonymous SNV 0.26 0.49 0.66 c.C493T p.P162S 0.61 0.23 0.43 0.58
chr15:64496758 CSNK1G1 nonsynonymous SNV 0.31 0.50 0.48 c.C881G p.R294T 1.00 0.46 0.57 0.57
chr17:11696980 DNAH9 nonsynonymous SNV 0.24 0.42 0.62 c.A8222C p.D2741A 0.12 0.21 0.36 0.56
chr4:88533803 DSPP nonsynonymous SNV 0.27 0.61 0.52 c.T465A p.N155K 0.96 0.20 0.51 0.45
chr20:33874597 FAM83C nonsynonymous SNV 0.16 0.44 0.40 c.G1985A p.T662M 0.00 0.17 0.30 0.38
chr6:5369392 FARS2 nonsynonymous SNV 0.2 0.36 0.35 c.G589A p.V197M 1.00 0.16 0.35 0.36
chr14:25076412 GZMH nonsynonymous SNV 0.17 0.40 0.37 c.G540T p.Y180X NA 0.15 0.28 0.33
chr10:126477647 METTL10 nonsynonymous SNV 0.14 0.57 0.60 c.T256C p.I86V 0.06 0.19 0.58 0.40
chrX:153040228 PLXNB3 nonsynonymous SNV 0.17 0.21 0.19 c.G3898C p.G1323R 0.06 0.29 0.33 0.37
chr12:3692299 PRMT8 nonsynonymous SNV 0.30 0.55 0.55 c.G904A p.D302N 1.00 0.35 0.57 0.58
chr2:65316194 RAB1A nonsynonymous SNV 0.18 0.37 0.39 c.T299C p.N100S 0.00 0.23 0.62 0.54
chr7:122338859 RNF133 nonsynonymous SNV 0.17 0.36 0.34 c.C114T p.W38X NA 0.15 0.32 0.40
chrX:30870990 TAB3 nonsynonymous SNV 0.09 0.37 0.39 c.C1615T p.E539K 0.07 0.15 0.33 0.36
chr1:234565362 TARBP1 nonsynonymous SNV 0.28 0.50 0.53 c.C2671T p.D891N 1.00 0.34 0.45 0.57
chr17:7579358 TP53 nonsynonymous SNV 0.21 0.47 0.68 c.C329G p.R110P 0.85 0.02 0.44 0.47
chr7:158824649 VIPR2 nonsynonymous SNV 0.13 0.63 0.59 c.G1081T p.L361M 1.00 0.03 0.72 0.77
chr16:72828578 ZFHX3 nonsynonymous SNV 0.23 0.54 0.58 c.C8003T p.R1754Q 0.45 0.17 0.56 0.53
chr19:58420819 ZNF417 nonsynonymous SNV 0.19 0.56 0.5 c.G827C p.S276C 0.89 0.15 0.41 0.42
chr17:29554310 NF1 splice site SNV 0.16 0.56 0.48 c.G2325+1A NA NA 0.18 0.12 0.63
chr19:46192605 SNRPD2 splice site SNV 0.31 0.58 0.55 c.G3-781A NA NA 0.26 0.62 0.63
chr3:195022735-195022753 ACAP2 frameshift deletion 0. 15 0.41 0.55 c.1267_1285del p.R423Wfs*26 NA NA NA NA
chr1:201983017-201983030 ELF3 frameshift deletion 0.17 0.15 0.34 c.866_879del p.N289Kfs*7 NA NA NA NA
chr13:108922263-108922263 TNFSF13B frameshift deletion 0.17 0.36 0.31 c.20delG p.E8Sfs*15 NA 0.21 0.22 0.37

OV= primary tumor; OMN=metastatic tumor; REC=recurrent tumor after chemotherapy.

Zhang et al.

Zhang et al. BMC Cancer 2013 13:146   doi:10.1186/1471-2407-13-146

Open Data