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 |