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Table 1 Confirmed deleteriousa or truncating somatic variants in GIST1 and GIST2

From: Succinate dehydrogenase deficiency in a PDGFRA mutated GIST

Gene symbol

UniProt accessionb

Genomic coordinatec

Exon

Mutation (cDNA)

Mutation (protein)

MAFd (%), (GIST 1;GIST2)

PDGFRA

P16234

chr4:55,152,093

18

c.2525A > T

p.D842V

33; 48

SDHB

P21912

chr1:17,355,226

4

c.291_292delCT

p.I97Mfs*21

42; 61

CERS2

Q96G23

chr1:150,939,337

9

c.743C > G

p.S248*

36; 45

DNAH3

Q8TD57

chr16:21,049,229

34

c.4804G > A

p.G1602S

76; 86

CAPN9

O14815

chr1:230,928,629

16

c.1825G > A

p.G609S

32; 32

DIS3

Q9Y2L1

chr13:73,347,835

8

c.1226C > T

p.S409F

17; 39

GJD2

Q9UKL4

chr15:35,044,921

2

c.724 T > C

p.C242R

32; 19

EDN3

P14138

chr20:57,876,697

2

c.285G > T

p.R95S

41; 42

PI4KA

P42356

chr22:21,104,246

28

c.3190A > G

p.I1064V

43; 29

TENM2

Q9NT68

chr5:167,645,590

23

c.4667 T > A

p.I1556N

60; 64

JPH1

Q9HDC5

chr8:75,227,712

3

c.523G > A

p.V175 M

25; 40

DIS3L2

Q8IYB7

chr2:232,880,352

2

c.181G > T

p.E61*

0; 89

SENP6

Q9GZR1

chr6:76,369,037

7

c.610A > G

p.K204E

0; 58

PLCG2

P16885

chr16:81,944,244

18

c.1853G > A

p.R618H

0; 24

  1. ahttp://www.mypeg.info; bhttp://www.uniprot.org; cHg19; dmutant allele frequency
  2. The symbol "*" in a description of a protein variant is standard nomenclature that denotes a stop codon in the protein sequence