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Table 2 Somatic mutations in the two SMZL analyzed by WES

From: Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations

Gene

Case

Chr

Position

Exon

Coverage tumor

SNV frequency

Quality scorea

Nucleotide change

AA change

SIFT prediction

PolyPhen-2 prediction

CEBPZ

1

2

37.456.150

2

21

0.38

27.0

c.186 T > A

p.D62E

Tolerated

Benign

MYD88

1

3

38.182.641

5

49

0.49

30.0

c.794 T > C

p.L265P

Damaging

Probably damaging

TTC14

1

3

180.320.802

2

21

0.24

32.0

c.285A > G

p.E95Eb

Tolerated

Benign

SLC6A7

1

5

149.574.417

2

33

0.27

23.0

c.160 T > C

p.C54R

Damaging

Probably damaging

BTN2A2

1

6

26.384.057

2

29

0.24

32.0

c.8C > T

p.P3L

Damaging

Possibly damaging

POM121

1

7

72.396.892

5

41

0.29

20.0

c.737C > T

p.P246L

Damaging

Probably damaging

MUC12

1

7

100.645.822

2

32

0.25

31.0

c.12407C > A

p.P4136H

Tolerated

Probably damaging

STMN4

1

8

27.098.767

5

40

0.25

30.0

c.203A > C

p.D68A

Damaging

Benign

KRTAP5-2

1

11

1.619.441

1

20

0.35

27.0

c.40 T > C

p.C14R

N/A

Possibly damaging

CACNA1C

1

12

2.794.937

47

63

0.25

20.0

c.5823C > T

p.T1941M

Tolerated

N/A

LOC728888

1

16

29.395.118

 

61

0.15

18.0

c.1135G > T

p.G379W

Damaging

Probably damaging

CDC27

1

17

45.247.333

4

42

0.26

28.0

c.327G > T

p.E109D

Tolerated

Benign

FBXO44

2

1

11.718.850

4

21

0.19

20.28

c.421G > A

p.V141I

Tolerated

Benign

NOTCH2

2

1

120.458.255

34

65

0.48

22.0

c.7090C > T

p.Q2364c

Stop gained

N/A

SMYD1

2

2

88.396.251

6

26

0.50

26.0

c.836G > T

p.C279F

Damaging

Probably damaging

ZNF608

2

5

123.982.418

4

73

0.33

26.0

c.3659A > G

p.D1220G

Damaging

Probably damaging

ZNF451

2

6

57.013.380

10

30

0.20

24.93

c.2497 T > C

p.F833L

Tolerated

Benign

PDE10A

2

6

165.829.696

13

116

0.37

22.0

c.1072G > A

p.A358T

Tolerated

Probably damaging

PCLO

2

7

82.784.519

2

57

0.18

17.0

c.1438C > T

p.P480S

Tolerated

Benign

PRSS1

2

7

142.460.369

4

26

0.23

19.0

c.542G > A

p.S181N

Tolerated

Benign

CSMD1

2

8

2.800.055

69

74

0.36

24.0

c.8683A > T

p.I2895F

Damaging

N/A

APOA4

2

11

116.692.500

3

20

0.35

31.0

c.274G > A

p.A92T

Tolerated

Benign

HERC2

2

15

28.458.971

42

23

0.22

25.97

c.6703C > A

p.R2235S

Tolerated

Possibly damaging

CDC27

2

17

45.229.185

9

90

0.23

29.0

c.1075G > C

p.G359R

Tolerated

Possibly damaging

GRIN2C

2

17

72.842.984

10

39

0.44

23.0

c.2077C > T

p.R693C

Damaging

Probably damaging

  1. AA amino acid, Chr chromosome, N/A not applicable, SIFT Sorting Tolerant from Intolerant Algorithm, SNV[space]single nucleotide variant
  2. acalculated by Bioscope algorithm
  3. bsplice site
  4. cStop gained
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BMC Cancer

ISSN: 1471-2407

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