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. 2014 Jun 18;7:36. doi: 10.1186/1755-8794-7-36

Table 3.

SNVs and indels in relevance to cancer

Sample Chr Gene name Position Coding event Sequence change Substitution
CLN2
3
CPB1
150045158
SNV
G/A
R231Q
 
6
ESR1
152423875
SNV
C/T
T431I
 
10
TCF7L2
114907771
SNV
G/A
G424E
 
11
INPPL1
71621016
SNV
A/G
E567G
 
12
KRAS
25289548
SNV
C/T
G13D
 
14
TGFβ3
75495381
SNV
G/T
Q381K
 
18
BCL2
59136317
SNV
C/A
W188L
 
18
PTPRM
8384547
SNV
G/A
V1415M
 
10
MYST4
76460457
SNV
C/T
R1957W
 
18
SMAD4
46858795
SNV
T/G
L540R
 
19
SHANK1
55864301
SNV
G/A
R910C
 
21
HUNK
32293208
SNV
G/A
R662Q
 
3
PIK3CA
180399422
SNV
G/A
NA
 
1
PTPRC
196985273
SNV
G/A
S852N
 
13
MLNR
48693327
Indel
cccgg−/−ccgcc
Insertion
 
2
SLC4A10
162427730
Indel
atcag−/−aaaa
Insertion
 
6
UTRN
145111149
Indel
AAAT-g-GGAAA
Frameshift
 
7
HNRNPA2B1
26202550
Indel
CAGAT-cctcc-TCTAA
Frameshift
CLN3
1
ARID1A
26973896
SNV
G/T
E1531
 
2
LRP2
169845248
SNV
T/C
N400S
 
3
MITF
70011193
SNV
C/G
S92C
 
4
INPP4B
143222686
SNV
C/A
E864
 
5
GPR98
89974441
SNV
G/T
V787L
 
7
CYLN2
73409559
SNV
C/A
S344Y
 
10
PTPRE
129758044
SNV
G/A
R369Q
 
12
KRAS
25289551
SNV
C/T
G12D
 
4
MAML3
26202550
Indel
AAAT-ctg-CTGCT
AA_Deletion
 
6
PGC
140871034
Indel
CCTGC-aga-AGAGC
AA_Deletion
CLN4
1
ARID4B
233412380
SNV
C/A
R826M
 
3
PIK3CA
180434779
SNV
A/G
H1048R
 
4
KDR
55655861
SNV
G/A
R946C
 
5
APC
112129944
SNV
G/T
G53V
 
5
APC
112201150
SNV
C/T
Q654
 
5
APC
112203580
SNV
G/T
E1464
 
5
APC
112205360
SNV
A/G
K2057R
 
6
PTCRA
42998820
SNV
G/T
V46F
 
12
KRAS
25289552
SNV
C/A
G12C
  2 HOXD9 176696536 Indel cagcc-/gcagc Insertion