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Table 2 Sanger sequencing confirmed somatic mutations with increased frequencies in tumor samples

From: Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient

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

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