1 (MDS stage) |
BCL2 |
nonsynonymous substitution |
NM_000633 |
p.S105P |
c.T313C |
60985587 |
|
1 (MDS stage) |
BCL2 |
nonsynonymous substitution |
NM_000633 |
p.P57L |
c.C170T |
60985730 |
|
1 (MDS stage) |
ULK4 |
stopgain |
NM_017886 |
p.L1220X |
c.T3659A |
41439589 |
Repeat (Heat 5) |
1 (MDS stage) |
PPP2R2A |
nonsynonymous substitution |
NM_002717 |
p.A423D |
c.C1268A |
26227853 |
Repeat (WD 7) |
1 (MDS stage) |
RICTOR |
nonsynonymous substitution |
NM_152756 |
p.W295C |
c.G885T |
38975643 |
|
1 (MDS stage) |
MTOR |
nonsynonymous substitution |
NM_004958 |
p.K1471N |
c.G4413T |
11217265 |
Repeat (TPR 4) |
1 (AML stage) |
PPP2R3A |
nonsynonymous substitution |
NM_002718 |
p.Q88K |
c.C262A |
135720602 |
|
1 (AML stage) |
PIK3C2G |
nonsynonymous substitution |
NM_004570 |
p.A899D |
c.C2696A |
18649021 |
|
1 (AML stage) |
PRKACB |
splice site |
NM_182948 |
e9-1 |
|
84679835 |
|
1 (AML stage) |
NOD2 |
nonsynonymous substitution |
NM_022162 |
p.K118R |
c.A353G |
50733678 |
Domain (CARD 1) |
2 |
WDFY3 |
nonsynonymous substitution |
NM_014991 |
p.G3362V |
c.G10085T |
85600134 |
Region of interaction with SQSTM1 and ATG5 and LIR motif |
2 |
ULK4 |
nonsynonymous substitution |
NM_017886 |
p.P1003L |
c.C3008T |
41705161 |
|
3 |
PIK3CB |
nonsynonymous substitution |
NM_006219 |
p.V349E |
c.T1046A |
138452207 |
|
4 |
ATG2A |
nonsynonymous substitution |
NM_015104 |
p.A1533P |
c.G4597C |
64666182 |
|
5 |
WDFY4 |
splice site |
NM_020945 |
e48+2 |
|
50149895 |
|
6 |
KIF1B |
nonsynonymous substitution |
NM_015074 |
p.E1460K |
c.G4378A |
10425470 |
|
6 |
SEC22B |
nonsynonymous substitution |
NM_004892 |
p.T192P |
c.A574C |
145115815 |
Domain (v-SNARE coiled-coil homology) |
7 |
CDKN2AIPNL |
nonsynonymous substitution |
NM_080656 |
p.D100A |
c.A299C |
133745634 |
|
8 |
PIK3C2B |
non-frameshift deletion |
NM_002646 |
p.232_232del |
c.694_696del |
204438235 |
Region: of interaction with GRB2 |
9 |
PRKAG2 |
nonsynonymous substitution |
NM_016203 |
p.V533G |
c.A1598C |
151257690 |
Domain (CBS 4) |
10 |
RPTOR |
nonsynonymous substitution |
NM_001163034 |
p.A61D |
c.C182A |
78599510 |
|
10 |
SQSTM1 |
nonsynonymous substitution |
NM_003900 |
p.D347Y |
c.G1039T |
179260656 |
Proximal region to the LIR motif (amino-acid 336-341) |
10 |
GYS1 |
nonsynonymous substitution |
NM_001161587 |
p.G400V |
c.G1199T |
49477908 |
|
11 |
SMURF1 |
nonsynonymous substitution |
NM_020429 |
p.R564L |
c.G1691T |
98636086 |
Domain (HECT) |
12 |
VTI1A |
stopgain |
NM_145206 |
p.E53X |
c.G157T |
114224309 |
Region (Coiled coiled) |
12 |
TAB2 |
nonsynonymous substitution |
NM_015093 |
p.A152S |
c.G454T |
149699505 |
|
13 |
TNFSF10 |
nonsynonymous substitution |
NM_003810 |
p.A32D |
c.C95A |
172241080 |
|
13 |
LAMP2 |
nonsynonymous substitution |
NM_002294 |
p.A314S |
c.G940T |
119575738 |
Region (Second lumenal domain) |
13 |
PTPN2 |
nonsynonymous substitution |
NM_080423 |
p.Q264L |
c.A791T |
12814269 |
Domain (Tyrosine-protein phosphatase) |
14 |
PRKACB |
nonsynonymous substitution |
NM_001242862 |
p.W184C |
c.G552T |
84663456 |
|
15 |
NOD2 |
stopgain |
NM_022162 |
p.E1008X |
c.G3022T |
50763784 |
|
15 |
NOD2 |
nonsynonymous substitution |
NM_022162 |
p.E1008G |
c.A3023G |
50763785 |
|
16 |
TNFSF13B |
nonsynonymous substitution |
NM_001145645 |
p.N164D |
c.A490G |
NA |
|
17 |
PTPN2 |
stopgain |
NM_001207013 |
p.R26X |
c.C76T |
NA |
|
18 |
COG8 |
nonsynonymous substitution |
NM_032382 |
p.P369S |
c.C1105T |
NA |
|
19 |
DNM1L |
nonsynonymous substitution |
NM_005690 |
p.G362S |
c.G1084A |
32883952 |
|
20 |
HIF1A |
nonsynonymous substitution |
NM_181054 |
p.P429S |
c.C1285T |
NA |
|
21 |
MLST8 |
nonsynonymous substitution |
NM_001199173 |
p.R221S |
c.C661A |
2258298 |
Repeat (WD 6) |
22 |
PIK3C2A |
nonsynonymous substitution |
NM_002645 |
p.P723S |
c.C2167T |
17153527 |
Domain (C2 PI3K-type) |
23 |
PRKAA1 |
nonsynonymous substitution |
NM_206907 |
p.A573V |
c.C1718T |
NA |
|
24 |
PRKACB |
nonsynonymous substitution |
NM_182948 |
W244R |
c.T730A |
84663454 |
|
25 |
PRKAG1 |
nonsynonymous substitution |
NM_001206709 |
p.N15S |
c.A44G |
49406859 |
|
26 |
PRKAG1 |
nonsynonymous substitution |
NM_002733 |
p.R152G |
c.A454G |
NA |
Domain (CBS 2) |
27 |
SEC22B |
nonsynonymous substitution |
NM_004892 |
p.T192P |
c.A574C |
145115815 |
Domain (v-SNARE coiled-coil homology) |
28 |
STAT3 |
nonsynonymous substitution |
NM_003150 |
p.G618R |
c.G1852C |
40475058 |
|
29 |
VPS11 |
frameshift insertion |
NM_021729 |
p.S74fs |
|
118939937 |
|
30 |
VPS11 |
nonsynonymous substitution |
NM_021729 |
p.S74P |
c.T220C |
118939939 |
|
31 |
VPS33B |
nonsynonymous substitution |
NM_018668 |
p.E128Q |
c.G382C |
91553052 |
|
32 (TCGA3009) |
DNM2 |
frameshift insertion |
NM_001005360.1 |
p.T471fs*11 |
c.1411_1412insGCCATCGT |
10770237 |
Domain (Pleckstrin homology) |
32 (TCGA3009) |
WAC |
frameshift insertion |
NM_016628.3 |
p.E87fs |
->AGGGC |
28864676 |
|
33 (TCGA2871) |
ATG14 |
nonsynonymous substitution |
NM_014924.3 |
p.T213M |
G>A |
54922339 |
|
34 (TCGA2870) |
ATG4C |
nonsynonymous substitution |
NM_032852.2 |
p.D354Y |
G>T |
63073082 |
|
35 (TCGA2821) |
ATG16L1 |
nonsynonymous substitution |
NM_030803.3 |
p.L558Q |
c.T1673A |
233866685 |
|
36 (TCGA2919) |
SUPT20H |
nonsynonymous substitution |
NM_001014286.2 |
p.L635V |
G>C |
36489471 |
|
37 (TCGA2864) |
PPP2R2B |
nonsynonymous substitution |
NM_181676.1 |
p.R374C |
G>A |
145949924 |
Repeat (WD6) |
38 (TCGA2978) |
PRKAA2 |
stopgain |
NM_006252.3 |
p.R227* |
C>T |
56934311 |
Domain (Protein kinase) |
39 (TCGA2859) |
USP10 |
frameshift deletion |
NM_005153.2 |
p.P386fs |
C>- |
83336744 |
|
40 (TCGA3001) |
WAC |
splice site |
NM_016628.3 |
e12+1 |
G>A |
28945298 |
|