17-16068463-C-T |
NCOR1 |
c.448G>A |
p.G150R |
Missense |
5/46 |
- |
13-28626755-C-T |
FLT3 |
c.541G>A |
p.A181T |
Missense |
5/24 |
- |
13-21563311-G-A |
LATS2 |
c.608C>T |
p.A203V |
Missense |
4/8 |
- |
19-13419248-C-T |
CACNA1A |
c.1763G>A |
p.R588H |
Missense |
13/47 |
- |
X-39923607-G-A |
BCOR |
c.3484C>T |
p.R1162C |
Missense |
7/15 |
- |
7-151932991-G-A |
KMT2C |
c.2680C>T |
p.R894W |
Missense |
16/59 |
- |
4-187557893-T-C |
FAT1 |
c.3818A>G |
p.H1273R |
Missense |
5/27 |
- |
7-151935910-C-T |
KMT2C |
c.2534G>A |
p.G845E |
Missense |
15/59 |
- |
1-11319442-C-T |
MTOR |
c.25G>A |
p.A9T |
Missense |
2/58 |
- |
17-16068343-G-A |
NCOR1 |
c.568C>T |
p.R190* |
Nonsense |
5/46 |
- |
11-71948536-C-G |
INPPL1 |
c.3248C>G |
p.A1083G |
Missense |
26/28 |
- |
17-7579331-G-C |
TP53 |
c.356C>G |
p.A119G |
Missense |
4/11 |
- |
6-33756532-G-A |
LEMD2 |
c.362C>T |
p.A121V |
Missense |
1/9 |
- |
2-241696840-ATCCTCC-A |
KIF1A |
c.2748_2753delGGAGGA |
p.E916_E917del |
InFrameDeletion |
27/49 |
- |
7-151932990-C-T |
KMT2C |
c.2681G>A |
p.R894Q |
Missense |
16/59 |
- |
17-16068340-C-T |
NCOR1 |
c.571G>A |
p.E191K |
Missense |
5/46 |
- |
1-145440273-T-G |
TXNIP |
c.579T>G |
p.D193E |
Missense |
5/8 |
- |
17-16068396-G-A |
NCOR1 |
c.515C>T |
p.S172L |
Missense |
5/46 |
- |
2-241696840-ATCC-A |
KIF1A |
c.2751_2753delGGA |
p.E917del |
InFrameDeletion |
27/49 |
- |
19-13318672-CCTGCTG-C |
CACNA1A |
c.6970_6975delCAGCAG |
p.Q2324_Q2325del |
InFrameDeletion |
47/47 |
- |
18-42532072-A-C |
SETBP1 |
c.2767A>C |
p.I923L |
Missense |
4/6 |
- |
10-112356281-A-C |
SMC3 |
c.2089A>C |
p.N697H |
Missense |
19/29 |
- |
19-15281611-T-G |
NOTCH3 |
c.4762A>C |
p.N1588H |
Missense |
26/33 |
- |
X-53566722-T-G |
HUWE1 |
c.11528A>C |
p.E3843A |
Missense |
75/84 |
- |
2-43451739-CCTG-C |
ZFP36L2 |
c.1201_1203delCAG |
p.Q401del |
InFrameDeletion |
2/2 |
- |
6-29910581-C-A |
HLA-A |
c.121C>A |
p.R41S |
Missense |
2/8 |
- |
19-13318672-CCTG-C |
CACNA1A |
c.6973_6975delCAG |
p.Q2325del |
InFrameDeletion |
47/47 |
- |
7-151932985-G-A |
KMT2C |
c.2686C>T |
p.P896S |
Missense |
16/59 |
- |
1-27023769-C-T |
ARID1A |
c.875C>T |
p.T292I |
Missense |
1/20 |
- |
22-21347167-C-T |
LZTR1 |
c.1234C>T |
p.R412C |
Missense |
11/21 |
- |
1-120458550-A-C |
NOTCH2 |
c.6795T>G |
p.N2265K |
Missense |
34/34 |
- |
19-36215969-G-A |
KMT2B |
c.3509G>A |
p.R1170H |
Missense |
10/37 |
- |
X-47040781-AGGG-A |
RBM10 |
c.1418_1420delGGG |
p.G473del |
InFrameDeletion |
13/24 |
- |
4-55161404-G-A |
PDGFRA |
c.3235G>A |
p.D1079N |
Missense |
23/23 |
- |
3-121200622-G-A |
POLQ |
c.6008C>T |
p.P2003L |
Missense |
19/30 |
- |
16-3807363-T-TG |
CREBBP |
c.3623_3623dupC |
p.Q1209Tfs*25 |
Frameshift |
19/31 |
- |
3-168833624-AC-A |
MECOM |
c.2035delG |
p.V679Wfs*37 |
Frameshift |
8/17 |
- |
17-7800488-CG-C |
CHD3 |
c.1795delG |
p.E599Rfs*11 |
Frameshift |
11/40 |
- |
3-30713133-TA-T |
TGFBR2 |
c.458delA |
p.Y153Lfs*10 |
Frameshift |
4/7 |
- |
4-55151624-C-T |
PDGFRA |
c.2410C>T |
p.R804* |
Nonsense |
17/23 |
- |
6-152201867-C-T |
ESR1 |
c.721C>T |
p.R241W |
Missense |
3/8 |
- |
9-70912543-A-T |
CBWD3 |
c.864A>T |
p.E288D |
Missense |
12/15 |
- |
6-31324488-C-CGGAG |
HLA-B |
c.319_320insCTCC |
p.G107Afs*33 |
Frameshift |
2/8 |
- |
7-117144338-AGA-TGT |
CFTR |
c.85_87delAGAinsTGT |
p.R29C |
Missense |
2/27 |
- |
X-153595780-G-A |
FLNA |
c.853C>T |
p.R285C |
Missense |
5/48 |
- |
16-72821593-AGCC-A |
ZFHX3 |
c.10579_10581delGGC |
p.G3527del |
InFrameDeletion |
10/10 |
- |
1-120510817-G-A |
NOTCH2 |
c.1147C>T |
p.P383S |
Missense |
7/34 |
- |
16-72992310-C-T |
ZFHX3 |
c.1735G>A |
p.A579T |
Missense |
2/10 |
- |
9-139390839-A-G |
NOTCH1 |
c.7352T>C |
p.L2451P |
Missense |
34/34 |
- |
13-72256001-G-T |
DACH1 |
c.896C>A |
p.T297N |
Missense |
2/11 |
- |
13-21619978-T-A |
LATS2 |
c.188A>T |
p.Q63L |
Missense |
2/8 |
- |
1-158592945-T-C |
SPTA1 |
c.5948A>G |
p.E1983G |
Missense |
43/52 |
- |
19-1430254-C-G |
DAZAP1 |
c.764C>G |
p.A255G |
Missense |
10/12 |
- |
14-92537396-G-GCTGCTGC |
ATXN3 |
c.873_874insGCAGCAG |
p.Q292Afs*28 |
SpliceAcceptorInsertion |
10/11 |
- |
22-36700141-GGAA-G |
MYH9 |
c.2287_2289delTTC |
p.F763del |
InFrameDeletion |
19/41 |
- |
17-29559719-T-C |
NF1 |
c.3316T>C |
p.Y1106H |
Missense |
26/58 |
- |
1-201983060-C-A |
ELF3 |
c.909C>A |
p.F303L |
Missense |
8/9 |
- |
10-43596057-C-T |
RET |
c.224C>T |
p.T75M |
Missense |
2/20 |
- |
19-630075-C-T |
POLRMT |
c.287G>A |
p.S96N |
Missense |
3/21 |
- |
4-187524698-C-T |
FAT1 |
c.10982G>A |
p.R3661H |
Missense |
19/27 |
- |
11-118343133-G-A |
KMT2A |
c.1259G>A |
p.R420Q |
Missense |
3/36 |
- |
21-36164610-T-C |
RUNX1 |
c.1265A>G |
p.E422G |
Missense |
9/9 |
- |
15-90634852-G-A |
IDH2 |
c.140C>T |
p.A47V |
Missense |
2/11 |
- |
8-38285563-ATGC-A |
FGFR1 |
c.495_497delGCA |
p.L165_H166delinsF |
MultiAAMissense |
5/18 |
- |
22-41513333-ACAG-A |
EP300 |
c.239_241delAGC |
p.Q80del |
InFrameDeletion |
2/31 |
- |
11-118374726-C-T |
KMT2A |
c.8119C>T |
p.R2707W |
Missense |
27/36 |
- |
X-47032531-G-A |
RBM10 |
c.437G>A |
p.R146H |
Missense |
5/24 |
- |
14-92537354-C-CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ATXN3 |
c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
p.G306Qfs*38 |
Frameshift |
10/11 |
- |
6-31324495-AGGT-A |
HLA-B |
c.311_313delACC |
p.N104_L105delinsM |
MultiAAMissense |
2/8 |
- |
2-43453439-G-C |
ZFP36L2 |
c.16C>G |
p.L6V |
Missense |
1/2 |
- |
21-33074680-G-A |
SCAF4 |
c.334C>T |
p.R112C |
Missense |
5/20 |
- |
6-31324493-GC-G |
HLA-B |
c.315delG |
p.R106Afs*45 |
Frameshift |
2/8 |
- |
X-53440264-G-A |
SMC1A |
c.533C>T |
p.A178V |
Missense |
4/25 |
- |
17-80789385-G-A |
ZNF750 |
c.946C>T |
p.P316S |
Missense |
2/3 |
- |
22-41572510-G-A |
EP300 |
c.5039G>A |
p.R1680H |
Missense |
30/31 |
- |
X-96502837-C-T |
DIAPH2 |
c.2843C>T |
p.T948I |
Missense |
23/27 |
- |
2-198274610-G-A |
SF3B1 |
c.788C>T |
p.A263V |
Missense |
7/25 |
- |
16-2135264-G-A |
TSC2 |
c.4603G>A |
p.D1535N |
Missense |
36/42 |
- |
7-151945228-G-A |
KMT2C |
c.2291C>T |
p.S764F |
Missense |
14/59 |
- |
X-53619395-C-T |
HUWE1 |
c.3935G>A |
p.R1312H |
Missense |
33/84 |
- |
9-131339475-C-T |
SPTAN1 |
c.853C>T |
p.R285* |
Nonsense |
7/57 |
- |
6-33740476-G-A |
LEMD2 |
c.1441C>T |
p.R481C |
Missense |
9/9 |
- |
X-41055978-T-C |
USP9X |
c.4220T>C |
p.L1407P |
Missense |
28/45 |
- |
17-7793036-G-A |
CHD3 |
c.155G>A |
p.R52Q |
Missense |
2/40 |
- |
1-27057847-TC-T |
ARID1A |
c.1558delC |
p.Q520Sfs*99 |
Frameshift |
3/20 |
- |
5-79968644-G-A |
MSH3 |
c.994G>A |
p.A332T |
Missense |
6/24 |
- |
17-29496992-C-A |
NF1 |
c.563C>A |
p.A188E |
Missense |
5/58 |
- |
19-13395982-CT-C |
CACNA1A |
c.3591delA |
p.E1198Rfs*43 |
Frameshift |
21/47 |
- |
14-21867864-A-C |
CHD8 |
c.4818T>G |
p.S1606R |
Missense |
26/38 |
- |
3-142279185-A-C |
ATR |
c.1461T>G |
p.I487M |
Missense |
6/47 |
- |
14-21876693-A-C |
CHD8 |
c.2508T>G |
p.D836E |
Missense |
13/38 |
- |
9-139396287-C-T |
NOTCH1 |
c.5551G>A |
p.A1851T |
Missense |
30/34 |
- |
5-56111878-G-C |
MAP3K1 |
c.478G>C |
p.A160P |
Missense |
1/20 |
- |
19-47503784-G-A |
ARHGAP35 |
c.4339G>A |
p.A1447T |
Missense |
7/7 |
- |
2-212989514-G-T |
ERBB4 |
c.197C>A |
p.T66N |
Missense |
2/28 |
- |
3-41267246-G-A |
CTNNB1 |
c.830G>A |
p.G277D |
Missense |
6/15 |
- |
17-70119722-A-C |
SOX9 |
c.724A>C |
p.K242Q |
Missense |
3/3 |
- |
11-108192116-G-A |
ATM |
c.6541G>A |
p.E2181K |
Missense |
45/63 |
- |
17-70119713-A-C |
SOX9 |
c.715A>C |
p.T239P |
Missense |
3/3 |
- |
17-70119716-A-C |
SOX9 |
c.718A>C |
p.T240P |
Missense |
3/3 |
- |
9-137710547-G-C |
COL5A1 |
c.4276G>C |
p.G1426R |
Missense |
55/66 |
- |
13-20626437-C-T |
ZMYM2 |
c.2479C>T |
p.R827* |
Nonsense |
14/25 |
- |
19-10602698-C-T |
KEAP1 |
c.880G>A |
p.D294N |
Missense |
3/6 |
- |
20-31019177-A-G |
ASXL1 |
c.772A>G |
p.I258V |
Missense |
9/13 |
- |
19-11143974-A-T |
SMARCA4 |
c.3555A>T |
p.Q1185H |
Missense |
26/35 |
- |
19-11097584-T-C |
SMARCA4 |
c.764T>C |
p.M255T |
Missense |
5/35 |
- |
10-89711899-C-A |
PTEN |
c.517C>A |
p.R173S |
Missense |
6/9 |
- |
4-187628197-G-C |
FAT1 |
c.2785C>G |
p.P929A |
Missense |
2/27 |
- |
5-112155043-T-G |
APC |
c.1312+2T>G |
- |
IntronicSNV |
- |
10/15 |
9-8500963-C-T |
PTPRD |
c.1919G>A |
p.G640D |
Missense |
24/46 |
- |
3-52440298-G-T |
BAP1 |
c.754C>A |
p.R252S |
Missense |
9/17 |
- |
1-27100903-TGG-T |
ARID1A |
c.4187_4188delGG |
p.G1396Afs*48 |
Frameshift |
18/20 |
- |
19-33409241-G-A |
CEP89 |
c.1273C>T |
p.Q425* |
Nonsense |
13/19 |
- |
8-69243423-C-T |
C8orf34 |
c.176C>T |
p.P59L |
Missense |
1/14 |
- |
15-51503059-GT-G |
CYP19A1 |
c.1457delA |
p.N486Tfs*5 |
Frameshift |
10/10 |
- |
16-3843494-C-T |
CREBBP |
c.1109G>A |
p.R370Q |
Missense |
4/31 |
- |
2-25966872-T-TG |
ASXL2 |
c.2333dupC |
p.V779Sfs*25 |
Frameshift |
13/13 |
- |
14-92547328-G-A |
ATXN3 |
c.853C>T |
p.R285* |
Nonsense |
9/11 |
- |
9-139410148-C-T |
NOTCH1 |
c.1690G>A |
p.E564K |
Missense |
11/34 |
- |
13-48878166-G-C |
RB1 |
c.118G>C |
p.E40Q |
Missense |
1/27 |
- |
13-32937510-G-A |
BRCA2 |
c.8171G>A |
p.G2724E |
Missense |
18/27 |
- |
10-43617395-G-C |
RET |
c.2732G>C |
p.G911A |
Missense |
16/20 |
- |
16-339531-C-T |
AXIN1 |
c.2371G>A |
p.G791R |
Missense |
10/11 |
- |
X-96185790-G-A |
DIAPH2 |
c.1037G>A |
p.R346Q |
Missense |
10/27 |
- |
9-137323779-C-T |
RXRA |
c.1072C>T |
p.R358W |
Missense |
8/10 |
- |
6-31324139-A-G |
HLA-B |
c.424T>C |
p.Y142H |
Missense |
3/8 |
- |
X-76940033-A-G |
ATRX |
c.715T>C |
p.F239L |
Missense |
9/35 |
- |
6-152129060-C-A |
ESR1 |
c.13C>A |
p.L5I |
Missense |
1/8 |
- |
1-158587844-G-T |
SPTA1 |
c.6533C>A |
p.A2178D |
Missense |
46/52 |
- |
14-95562618-C-T |
DICER1 |
c.4639G>A |
p.D1547N |
Missense |
23/27 |
- |
13-32929193-A-C |
BRCA2 |
c.7203A>C |
p.R2401S |
Missense |
14/27 |
- |
17-16062106-T-G |
NCOR1 |
c.700A>C |
p.S234R |
Missense |
6/46 |
- |
5-56168782-A-G |
MAP3K1 |
c.1636A>G |
p.T546A |
Missense |
9/20 |
- |
4-55138668-A-G |
PDGFRA |
c.1345A>G |
p.I449V |
Missense |
9/23 |
- |
22-36718479-G-A |
MYH9 |
c.700C>T |
p.R234C |
Missense |
6/41 |
- |
14-92537354-C-CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ATXN3 |
c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
p.G306Qfs*39 |
Frameshift |
10/11 |
- |
12-56491686-C-T |
ERBB3 |
c.2578C>T |
p.P860S |
Missense |
21/28 |
- |
19-3978160-G-T |
EEF2 |
c.1724C>A |
p.P575Q |
Missense |
12/15 |
- |
9-131344821-A-G |
SPTAN1 |
c.1636A>G |
p.T546A |
Missense |
13/57 |
- |
19-13318672-CCTGCTGCTG-C |
CACNA1A |
c.6967_6975delCAGCAGCAG |
p.Q2323_Q2325del |
InFrameDeletion |
47/47 |
- |
8-38282110-G-A |
FGFR1 |
c.853C>T |
p.P285S |
Missense |
7/18 |
- |
7-152012326-A-G |
KMT2C |
c.487T>C |
p.W163R |
Missense |
4/59 |
- |
9-139396362-C-T |
NOTCH1 |
c.5476G>A |
p.E1826K |
Missense |
30/34 |
- |
15-42034890-G-A |
MGA |
c.4732G>A |
p.V1578I |
Missense |
15/24 |
- |
16-68855966-GC-G |
CDH1 |
c.1779delC |
p.I594Yfs*19 |
Frameshift |
12/16 |
- |
7-1276048-G-A |
UNCX |
c.1031G>A |
p.R344H |
Missense |
3/3 |
- |
9-133730467-C-T |
ABL1 |
c.533C>T |
p.T178I |
Missense |
3/11 |
- |
6-150005540-T-C |
LATS1 |
c.685A>G |
p.S229G |
Missense |
4/8 |
- |
19-3983221-G-A |
EEF2 |
c.287C>T |
p.A96V |
Missense |
3/15 |
- |
15-59323374-T-C |
RNF111 |
c.353T>C |
p.L118P |
Missense |
2/14 |
- |
1-158626362-C-T |
SPTA1 |
c.2890G>A |
p.A964T |
Missense |
20/52 |
- |
X-70470502-G-A |
ZMYM3 |
c.853C>T |
p.R285W |
Missense |
5/25 |
- |
1-6246837-ATTC-A |
RPL22 |
c.279_281delGAA |
p.K93del |
InFrameDeletion |
4/4 |
- |
2-29450487-A-C |
ALK |
c.2867T>G |
p.V956G |
Missense |
17/29 |
- |
22-50717107-G-A |
PLXNB2 |
c.4565C>T |
p.T1522I |
Missense |
29/37 |
- |
6-152163812-C-T |
ESR1 |
c.533C>T |
p.S178F |
Missense |
2/8 |
- |
18-48573504-G-A |
SMAD4 |
c.88G>A |
p.G30R |
Missense |
2/12 |
- |
14-95592924-G-T |
DICER1 |
c.896C>A |
p.S299* |
Nonsense |
7/27 |
- |
X-53409252-T-C |
SMC1A |
c.3338A>G |
p.Y1113C |
Missense |
22/25 |
- |
9-8524957-C-T |
PTPRD |
c.647G>A |
p.R216H |
Missense |
18/46 |
- |
22-36722692-G-A |
MYH9 |
c.533C>T |
p.A178V |
Missense |
5/41 |
- |
15-57489983-CA-C |
TCF12 |
c.546delA |
p.V183Sfs*62 |
Frameshift |
8/21 |
- |
11-100998483-G-A |
PGR |
c.1319C>T |
p.T440M |
Missense |
1/8 |
- |
17-7800487-C-CG |
CHD3 |
c.1795_1795dup |
p.E599Gfs*3 |
Frameshift |
11/40 |
- |
19-36214675-A-C |
KMT2B |
c.3101A>C |
p.E1034A |
Missense |
8/37 |
- |
17-70119704-A-AC |
SOX9 |
c.710_710dupC |
p.P238Tfs*14 |
Frameshift |
3/3 |
- |
7-148514363-T-C |
EZH2 |
c.1361A>G |
p.D454G |
Missense |
11/20 |
- |
7-55087060-T-C |
EGFR |
c.88+2T>C |
- |
IntronicSNV |
- |
1/27 |
X-123224815-G-A |
STAG2 |
c.3578+1G>A |
- |
IntronicSNV |
- |
32/34 |
X-41198337-G-A |
DDX3X |
c.151+1G>A |
- |
IntronicSNV |
- |
3/16 |
9-80646014-A-G |
GNAQ |
c.136+2T>C |
- |
IntronicSNV |
- |
1/6 |
12-6702576-GAGATACCTTCAT-G |
CHD4 |
c.2509_2514+6del12 |
- |
SpliceDonorDeletion |
16/40 |
16/39 |
7-151884446-G-A |
KMT2C |
c.4909C>T |
p.L1637F |
Missense |
33/59 |
- |
9-131371463-T-G |
SPTAN1 |
c.4658T>G |
p.L1553R |
Missense |
36/57 |
- |
9-137328444-C-T |
RXRA |
c.1373C>T |
p.P458L |
Missense |
10/10 |
- |
10-89717673-G-C |
PTEN |
c.698G>C |
p.R233P |
Missense |
7/9 |
- |
12-6701976-C-T |
CHD4 |
c.2660G>A |
p.R887Q |
Missense |
18/40 |
- |
12-49431832-C-T |
KMT2D |
c.9307G>A |
p.A3103T |
Missense |
35/55 |
- |
12-112893764-C-T |
PTPN11 |
c.653C>T |
p.T218M |
Missense |
6/16 |
- |
17-16089983-A-G |
NCOR1 |
c.127T>C |
p.Y43H |
Missense |
3/46 |
- |
17-80788691-G-A |
ZNF750 |
c.1499C>T |
p.A500V |
Missense |
3/3 |
- |
19-622742-G-A |
POLRMT |
c.1466C>T |
p.A489V |
Missense |
8/21 |
- |
19-33793313-G-A |
CEBPA |
c.8C>T |
p.S3L |
Missense |
1/1 |
- |
22-50726388-C-T |
PLXNB2 |
c.1459G>A |
p.G487S |
Missense |
6/37 |
- |
X-31200876-T-A |
DMD |
c.9953A>T |
p.E3318V |
Missense |
68/79 |
- |
X-70469472-A-T |
ZMYM3 |
c.1309T>A |
p.F437I |
Missense |
7/25 |
- |
X-153588540-T-C |
FLNA |
c.3623A>G |
p.Y1208C |
Missense |
22/48 |
- |
2-241676493-C-A |
KIF1A |
c.3994G>T |
p.A1332S |
Missense |
38/49 |
- |
3-47098492-G-A |
SETD2 |
c.6782C>T |
p.A2261V |
Missense |
15/21 |
- |
3-138474797-A-G |
PIK3CB |
c.196T>C |
p.Y66H |
Missense |
4/24 |
- |
4-55131130-T-C |
PDGFRA |
c.673T>C |
p.Y225H |
Missense |
5/23 |
- |
15-59323836-AAGG-A |
RNF111 |
c.818_820delGAG |
p.G273del |
InFrameDeletion |
2/14 |
- |
3-138431118-A-G |
PIK3CB |
c.1331T>C |
p.M444T |
Missense |
10/24 |
- |
8-38271515-T-C |
FGFR1 |
c.2213A>G |
p.H738R |
Missense |
17/18 |
- |
12-46243386-T-C |
ARID2 |
c.1739T>C |
p.V580A |
Missense |
14/21 |
- |
14-21897136-A-G |
CHD8 |
c.1202T>C |
p.V401A |
Missense |
3/38 |
- |
16-2138238-A-G |
TSC2 |
c.5171A>G |
p.Q1724R |
Missense |
41/42 |
- |
16-72821086-C-A |
ZFHX3 |
c.11089G>T |
p.G3697* |
Nonsense |
10/10 |
- |
1-27023137-GGGTGGC-G |
ARID1A |
c.246_251delTGGCGG |
p.G86_G87del |
InFrameDeletion |
1/20 |
- |
4-106196925-AT-TG |
TET2 |
c.5258_5259delATinsTG |
p.N1753M |
Missense |
11/11 |
- |
X-53430809-T-C |
SMC1A |
c.2213A>G |
p.E738G |
Missense |
14/25 |
- |
X-32361384-C-G |
DMD |
c.5606G>C |
p.R1869T |
Missense |
40/79 |
- |
17-29670046-T-C |
NF1 |
c.7082T>C |
p.M2361T |
Missense |
48/58 |
- |
22-36690263-G-A |
MYH9 |
c.3712C>T |
p.Q1238* |
Nonsense |
28/41 |
- |
10-63852189-G-T |
ARID5B |
c.2967G>T |
p.M989I |
Missense |
10/10 |
- |
10-63829479-G-T |
ARID5B |
c.1122G>T |
p.W374C |
Missense |
8/10 |
- |
4-106156508-G-A |
TET2 |
c.1409G>A |
p.C470Y |
Missense |
3/11 |
- |
6-161505595-G-A |
MAP3K4 |
c.2318G>A |
p.S773N |
Missense |
7/27 |
- |
9-36966631-T-C |
PAX5 |
c.695A>G |
p.Q232R |
Missense |
6/10 |
- |
5-80024712-T-A |
MSH3 |
c.1496T>A |
p.V499E |
Missense |
10/24 |
- |
5-79950628-T-G |
MSH3 |
c.82T>G |
p.F28V |
Missense |
1/24 |
- |
17-63554450-T-A |
AXIN2 |
c.289A>T |
p.T97S |
Missense |
2/11 |
- |
17-63533657-GA-TT |
AXIN2 |
c.1496_1497delTCinsAA |
p.L499Q |
Missense |
6/11 |
- |
1-27100114-G-A |
ARID1A |
c.3910G>A |
p.A1304T |
Missense |
16/20 |
- |
1-27057758-C-T |
ARID1A |
c.1466C>T |
p.P489L |
Missense |
3/20 |
- |
5-112179037-A-AT |
APC |
c.7746_7747insT |
p.K2583* |
Nonsense |
16/16 |
- |
5-79974774-T-A |
MSH3 |
c.1202T>A |
p.V401E |
Missense |
8/24 |
- |
18-45375011-C-T |
SMAD2 |
c.832G>A |
p.A278T |
Missense |
8/11 |
- |
1-27106282-A-C |
ARID1A |
c.5893A>C |
p.T1965P |
Missense |
20/20 |
- |
17-63554316-G-T |
AXIN2 |
c.423C>A |
p.N141K |
Missense |
2/11 |
- |
17-56448381-T-C |
RNF43 |
c.266A>G |
p.Y89C |
Missense |
3/10 |
- |
18-42643128-A-C |
SETBP1 |
c.4256A>C |
p.K1419T |
Missense |
6/6 |
- |
X-20173527-T-C |
RPS6KA3 |
c.2212A>G |
p.T738A |
Missense |
22/22 |
- |
X-41206250-G-A |
DDX3X |
c.1754G>A |
p.R585H |
Missense |
15/17 |
- |
1-201982155-T-G |
ELF3 |
c.679T>G |
p.F227V |
Missense |
6/9 |
- |
3-138409867-C-A |
PIK3CB |
c.2011G>T |
p.G671W |
Missense |
15/24 |
- |
4-187629955-T-C |
FAT1 |
c.1027A>G |
p.T343A |
Missense |
2/27 |
- |
7-1276195-A-G |
UNCX |
c.1178A>G |
p.Q393R |
Missense |
3/3 |
- |
17-16021266-T-G |
NCOR1 |
c.1991A>C |
p.N664T |
Missense |
18/46 |
- |
X-32486689-T-G |
DMD |
c.3088A>C |
p.K1030Q |
Missense |
23/79 |
- |
11-100998496-C-T |
PGR |
c.1306G>A |
p.E436K |
Missense |
1/8 |
- |
7-152132868-A-T |
KMT2C |
c.4T>A |
p.S2T |
Missense |
1/59 |
- |
8-117878908-C-T |
RAD21 |
c.61G>A |
p.A21T |
Missense |
2/14 |
- |
19-13318473-G-T |
CACNA1A |
c.7175C>A |
p.A2392E |
Missense |
47/47 |
- |
19-13409421-G-A |
CACNA1A |
c.3026C>T |
p.A1009V |
Missense |
19/47 |
- |
18-42531198-G-T |
SETBP1 |
c.1893G>T |
p.K631N |
Missense |
4/6 |
- |
22-36680286-T-C |
MYH9 |
c.5618A>G |
p.K1873R |
Missense |
40/41 |
- |
1-158619653-A-T |
SPTA1 |
c.3562T>A |
p.F1188I |
Missense |
25/52 |
- |
5-112179727-C-A |
APC |
c.8436C>A |
p.N2812K |
Missense |
16/16 |
- |
19-13616866-GGTC-G |
CACNA1A |
c.171_173delGAC |
p.T58del |
InFrameDeletion |
1/47 |
- |
1-158624411-GA-AG |
SPTA1 |
c.3025_3026delTCinsCT |
p.S1009L |
Missense |
21/52 |
- |
8-117878965-A-T |
RAD21 |
c.4T>A |
p.F2I |
Missense |
2/14 |
- |
1-16475304-C-T |
EPHA2 |
c.392G>A |
p.G131D |
Missense |
3/17 |
- |
3-168838939-C-T |
MECOM |
c.1037G>A |
p.R346Q |
Missense |
7/17 |
- |
7-151873937-C-A |
KMT2C |
c.8601G>T |
p.K2867N |
Missense |
38/59 |
- |
12-6692223-C-A |
CHD4 |
c.4117G>T |
p.G1373C |
Missense |
27/40 |
- |
14-95562408-G-T |
DICER1 |
c.4849C>A |
p.L1617I |
Missense |
23/27 |
- |
15-42019399-A-G |
MGA |
c.3452A>G |
p.E1151G |
Missense |
10/24 |
- |
16-72831636-A-G |
ZFHX3 |
c.4945T>C |
p.S1649P |
Missense |
9/10 |
- |
18-42532614-G-A |
SETBP1 |
c.3309G>A |
p.M1103I |
Missense |
4/6 |
- |
19-617321-C-T |
POLRMT |
c.3646G>A |
p.A1216T |
Missense |
21/21 |
- |
19-625176-C-T |
POLRMT |
c.901G>A |
p.A301T |
Missense |
4/21 |
- |
19-17950372-T-C |
JAK3 |
c.1355A>G |
p.E452G |
Missense |
10/24 |
- |
22-36688121-G-A |
MYH9 |
c.4255C>T |
p.Q1419* |
Nonsense |
31/41 |
- |
17-58740591-T-A |
PPM1D |
c.1496T>A |
p.V499E |
Missense |
6/6 |
- |
17-29541572-T-A |
NF1 |
c.1496T>A |
p.L499Q |
Missense |
13/58 |
- |
6-161469783-AT-TG |
MAP3K4 |
c.479_480delATinsTG |
p.N160M |
Missense |
3/27 |
- |
17-58733979-G-A |
PPM1D |
c.1037G>A |
p.C346Y |
Missense |
5/6 |
- |
11-32456702-A-G |
WT1 |
c.190T>C |
p.S69P |
Missense |
1/10 |
- |
19-18272856-C-T |
PIK3R2 |
c.896C>T |
p.P299L |
Missense |
7/16 |
- |
20-39791328-A-G |
PLCG1 |
c.644A>G |
p.Q215R |
Missense |
6/32 |
- |
21-36164863-C-T |
RUNX1 |
c.1012G>A |
p.A338T |
Missense |
9/9 |
- |
2-25497946-C-T |
DNMT3A |
c.503G>A |
p.G168D |
Missense |
6/23 |
- |
5-56183288-A-G |
MAP3K1 |
c.4198A>G |
p.T1400A |
Missense |
18/20 |
- |
7-6441995-A-C |
RAC1 |
c.497A>C |
p.K166T |
Missense |
6/6 |
- |
9-137534139-G-A |
COL5A1 |
c.106G>A |
p.A36T |
Missense |
1/66 |
- |
3-142281529-A-G |
ATR |
c.715T>C |
p.Y239H |
Missense |
4/47 |
- |
1-51439718-G-A |
CDKN2C |
c.283G>A |
p.D95N |
Missense |
2/2 |
- |
1-198697544-A-G |
PTPRC |
c.1796A>G |
p.Y599C |
Missense |
16/33 |
- |
1-198676010-AT-TG |
PTPRC |
c.833_834delATinsTG |
p.N278M |
Missense |
9/33 |
- |
1-229588361-G-A |
NUP133 |
c.3010C>T |
p.H1004Y |
Missense |
22/26 |
- |
2-25976508-C-T |
ASXL2 |
c.1037G>A |
p.G346D |
Missense |
11/13 |
- |
5-176637843-T-C |
NSD1 |
c.2443T>C |
p.C815R |
Missense |
5/23 |
- |
7-148481145-A-G |
CUL1 |
c.1274A>G |
p.Y425C |
Missense |
11/22 |
- |
7-151900107-A-G |
KMT2C |
c.4004T>C |
p.V1335A |
Missense |
26/59 |
- |
8-55371857-T-C |
SOX17 |
c.547T>C |
p.F183L |
Missense |
2/2 |
- |
9-8465545-C-G |
PTPRD |
c.3635G>C |
p.G1212A |
Missense |
32/46 |
- |
12-14631307-T-C |
ATF7IP |
c.2998T>C |
p.S1000P |
Missense |
12/15 |
- |
12-49444462-T-C |
KMT2D |
c.2909A>G |
p.E970G |
Missense |
12/55 |
- |
17-56435524-G-T |
RNF43 |
c.1613C>A |
p.P538H |
Missense |
9/10 |
- |
19-36211426-G-A |
KMT2B |
c.1177G>A |
p.A393T |
Missense |
3/37 |
- |
19-52709282-T-C |
PPP2R1A |
c.236T>C |
p.L79P |
Missense |
3/15 |
- |
X-32360342-C-T |
DMD |
c.5797G>A |
p.A1933T |
Missense |
41/79 |
- |
X-47424224-G-A |
ARAF |
c.229G>A |
p.A77T |
Missense |
4/16 |
- |
X-53222362-C-A |
KDM5C |
c.4470G>T |
p.E1490D |
Missense |
26/26 |
- |
X-53423204-C-T |
SMC1A |
c.2805G>A |
p.M935I |
Missense |
18/25 |
- |
X-53569416-T-C |
HUWE1 |
c.11464A>G |
p.T3822A |
Missense |
74/84 |
- |
X-53442040-T-A |
SMC1A |
c.188A>T |
p.D63V |
Missense |
2/25 |
- |
16-72821603-G-GCCA |
ZFHX3 |
c.10571_10572insTGG |
p.G3527dup |
InFrameInsertion |
10/10 |
- |
16-72821612-G-GCCA |
ZFHX3 |
c.10562_10563insTGG |
p.G3527dup |
InFrameInsertion |
10/10 |
- |
2-219449358-T-C |
CNOT9 |
c.344T>C |
p.I115T |
Missense |
4/8 |
- |
4-1955099-G-A |
NSD2 |
c.2186G>A |
p.R729H |
Missense |
12/22 |
- |
13-21549287-T-C |
LATS2 |
c.2989A>G |
p.M997V |
Missense |
8/8 |
- |
17-44115990-G-A |
KANSL1 |
c.2455C>T |
p.H819Y |
Missense |
10/15 |
- |
17-58701032-T-C |
PPM1D |
c.623T>C |
p.V208A |
Missense |
2/6 |
- |
19-36221628-G-A |
KMT2B |
c.5297G>A |
p.S1766N |
Missense |
26/37 |
- |
22-36698702-T-C |
MYH9 |
c.2411A>G |
p.Q804R |
Missense |
20/41 |
- |
22-50728239-A-G |
PLXNB2 |
c.775T>C |
p.Y259H |
Missense |
3/37 |
- |
1-198717305-A-C |
PTPRC |
c.2915A>C |
p.N972T |
Missense |
27/33 |
- |
10-63700160-CAGA-C |
ARID5B |
c.495_497delAGA |
p.D166del |
InFrameDeletion |
3/10 |
- |
4-187628620-A-G |
FAT1 |
c.2362T>C |
p.Y788H |
Missense |
2/27 |
- |
2-212570048-A-G |
ERBB4 |
c.1193T>C |
p.I398T |
Missense |
10/28 |
- |
22-41513266-ATGG-A |
EP300 |
c.176_178delGTG |
p.G59del |
InFrameDeletion |
2/31 |
- |
14-95571495-A-G |
DICER1 |
c.3182T>C |
p.L1061P |
Missense |
20/27 |
- |
15-75702479-G-C |
SIN3A |
c.1157C>G |
p.S386C |
Missense |
7/21 |
- |
16-3778042-C-T |
CREBBP |
c.7006G>A |
p.A2336T |
Missense |
31/31 |
- |
19-11144086-A-C |
SMARCA4 |
c.3667A>C |
p.N1223H |
Missense |
26/35 |
- |
22-50716694-G-A |
PLXNB2 |
c.4739C>T |
p.A1580V |
Missense |
31/37 |
- |
X-39933950-T-C |
BCOR |
c.649A>G |
p.M217V |
Missense |
4/15 |
- |
X-53577999-G-A |
HUWE1 |
c.9248C>T |
p.A3083V |
Missense |
65/84 |
- |
X-70472970-C-T |
ZMYM3 |
c.136G>A |
p.A46T |
Missense |
2/25 |
- |
X-76907820-C-A |
ATRX |
c.4341G>T |
p.E1447D |
Missense |
15/35 |
- |
X-79698705-A-C |
TENT5D |
c.667A>C |
p.I223L |
Missense |
3/3 |
- |
13-21565507-T-C |
LATS2 |
c.379A>G |
p.R127G |
Missense |
3/8 |
- |
14-95574352-A-G |
DICER1 |
c.2515T>C |
p.S839P |
Missense |
16/27 |
- |
16-72993149-G-T |
ZFHX3 |
c.896C>A |
p.T299N |
Missense |
2/10 |
- |
16-68857527-T-C |
CDH1 |
c.2162T>C |
p.L721P |
Missense |
13/16 |
- |
X-153595213-C-T |
FLNA |
c.874G>A |
p.E292K |
Missense |
6/48 |
- |
3-12645769-T-G |
RAF1 |
c.700A>C |
p.T234P |
Missense |
7/17 |
- |
16-68857523-TTTG-T |
CDH1 |
c.2158_2160delTTG |
p.L721del |
InFrameDeletion |
13/16 |
- |
14-92537396-G-GCTGCTGCTGCTGC |
ATXN3 |
c.873_874insGCAGCAGCAGCAG |
p.Q292Afs*30 |
SpliceAcceptorInsertion |
10/11 |
- |
16-68857520-GC-CT |
CDH1 |
c.2155_2156delGCinsCT |
p.A719L |
Missense |
13/16 |
- |
1-93300383-ATGC-A |
RPL5 |
c.237_239delTGC |
p.Y79_A80delins* |
MultiAAMissense |
4/8 |
- |
2-29449802-C-T |
ALK |
c.3053G>A |
p.G1018D |
Missense |
18/29 |
- |
2-70315740-A-T |
PCBP1 |
c.865A>T |
p.N289Y |
Missense |
1/1 |
- |
9-131344833-G-A |
SPTAN1 |
c.1648G>A |
p.A550T |
Missense |
13/57 |
- |
X-41073869-T-G |
USP9X |
c.5238T>G |
p.N1746K |
Missense |
34/45 |
- |
2-212566772-T-G |
ERBB4 |
c.1409A>C |
p.H470P |
Missense |
12/28 |
- |
2-212566775-T-G |
ERBB4 |
c.1406A>C |
p.Y469S |
Missense |
12/28 |
- |
2-212566778-T-G |
ERBB4 |
c.1403A>C |
p.Y468S |
Missense |
12/28 |
- |
6-74228684-C-T |
EEF1A1 |
c.592G>A |
p.G198S |
Missense |
4/8 |
- |
9-8528774-G-T |
PTPRD |
c.358C>A |
p.Q120K |
Missense |
15/46 |
- |
11-100998802-C-T |
PGR |
c.1000G>A |
p.G334R |
Missense |
1/8 |
- |
12-52345618-G-T |
ACVR1B |
c.91G>T |
p.A31S |
Missense |
1/9 |
- |
22-41513796-A-C |
EP300 |
c.700A>C |
p.T234P |
Missense |
2/31 |
- |
22-50717332-G-A |
PLXNB2 |
c.4498C>T |
p.R1500C |
Missense |
28/37 |
- |
17-70119731-G-C |
SOX9 |
c.733G>C |
p.V245L |
Missense |
3/3 |
- |
22-50725547-TGGC-T |
PLXNB2 |
c.1752_1754delGCC |
p.P585del |
InFrameDeletion |
8/37 |
- |
1-93299207-T-C |
RPL5 |
c.179T>C |
p.I60T |
Missense |
3/8 |
- |
3-142231136-G-C |
ATR |
c.4818C>G |
p.H1606Q |
Missense |
27/47 |
- |
8-55371977-G-A |
SOX17 |
c.667G>A |
p.D223N |
Missense |
2/2 |
- |
19-13409601-G-A |
CACNA1A |
c.2846C>T |
p.T949M |
Missense |
19/47 |
- |
4-55131157-A-C |
PDGFRA |
c.700A>C |
p.T234P |
Missense |
5/23 |
- |
4-55139835-T-A |
PDGFRA |
c.1496T>A |
p.V499E |
Missense |
10/23 |
- |
7-151948037-T-C |
KMT2C |
c.1636A>G |
p.M546V |
Missense |
12/59 |
- |
1-158641236-A-T |
SPTA1 |
c.1496T>A |
p.L499Q |
Missense |
12/52 |
- |
1-93299216-A-T |
RPL5 |
c.188A>T |
p.Q63L |
Missense |
3/8 |
- |
X-53432812-T-C |
SMC1A |
c.1622A>G |
p.N541S |
Missense |
10/25 |
- |
14-21897442-G-T |
CHD8 |
c.896C>A |
p.P299H |
Missense |
3/38 |
- |
17-58701109-A-C |
PPM1D |
c.700A>C |
p.S234R |
Missense |
2/6 |
- |
7-152027800-T-A |
KMT2C |
c.275A>T |
p.E92V |
Missense |
3/59 |
- |
8-38287343-T-C |
FGFR1 |
c.215A>G |
p.Q72R |
Missense |
3/18 |
- |
X-70587402-TCACTGA-T |
TAF1 |
c.234_239delCACTGA |
p.T59_E60del |
InFrameDeletion |
2/38 |
- |
2-158617423-C-A |
ACVR1 |
c.1233G>T |
p.L411F |
Missense |
9/11 |
- |
17-16001716-G-C |
NCOR1 |
c.2785C>G |
p.Q929E |
Missense |
21/46 |
- |
18-60985688-G-GGCC |
BCL2 |
c.211_212insGGC |
p.S70_P71insR |
InFrameInsertion |
2/3 |
- |
5-176562379-A-T |
NSD1 |
c.275A>T |
p.D92V |
Missense |
2/23 |
- |
X-32716072-G-A |
DMD |
c.875C>T |
p.P292L |
Missense |
9/79 |
- |
21-33044181-TTGAAC-T |
SCAF4 |
c.2970_2974delGTTCA |
p.N992Rfs*2 |
Frameshift |
20/20 |
- |
19-1430253-G-GGC |
DAZAP1 |
c.763_764insGC |
p.A255Gfs*81 |
Frameshift |
10/12 |
- |
3-30713130-AAT-A |
TGFBR2 |
c.459_460delTA |
p.Y153* |
Frameshift |
4/7 |
- |
6-31323337-TG-T |
HLA-B |
c.651delC |
p.I218Sfs*8 |
Frameshift |
4/8 |
- |
16-68857316-AT-A |
CDH1 |
c.1955delT |
p.L652* |
Frameshift |
13/16 |
- |
6-29911270-A-AC |
HLA-A |
c.569_570insC |
p.E190Dfs*31 |
Frameshift |
3/8 |
- |
2-48026678-AG-A |
MSH6 |
c.1559delG |
p.G520Vfs*51 |
Frameshift |
4/10 |
- |
8-55372092-G-GC |
SOX17 |
c.788_788dup |
p.E264Gfs*101 |
Frameshift |
2/2 |
- |
9-133760086-AG-A |
ABL1 |
c.2409delG |
p.E803Dfs*11 |
Frameshift |
11/11 |
- |
5-112136995-CA-C |
APC |
c.749delA |
p.H250Lfs*43 |
Frameshift |
8/16 |
- |
5-56111872-GC-G |
MAP3K1 |
c.477delC |
p.A160Pfs*25 |
Frameshift |
1/20 |
- |
6-36651971-C-A |
CDKN1A |
c.93C>A |
p.S31R |
Missense |
2/3 |
- |
3-52588797-GC-G |
PBRM1 |
c.4230delG |
p.P1411Lfs*21 |
Frameshift |
27/30 |
- |
2-43452259-G-GC |
ZFP36L2 |
c.683_683dup |
p.A229Rfs*245 |
Frameshift |
2/2 |
- |
17-37884037-C-G |
ERBB2 |
c.3508C>G |
p.P1170A |
Missense |
27/27 |
- |
5-112116592-C-T |
APC |
c.637C>T |
p.R213* |
Nonsense |
6/16 |
- |
12-25398279-C-T |
KRAS |
c.40G>A |
p.V14I |
Missense |
2/5 |
- |
5-176637240-G-T |
NSD1 |
c.1840G>T |
p.V614L |
Missense |
5/23 |
- |
3-37053590-G-A |
MLH1 |
c.677G>A |
p.R226Q |
Missense |
8/19 |
- |
5-176637576-T-C |
NSD1 |
c.2176T>C |
p.S726P |
Missense |
5/23 |
- |
5-112151204-C-T |
APC |
c.847C>T |
p.R283* |
Nonsense |
9/16 |
- |
5-112175216-G-T |
APC |
c.3925G>T |
p.E1309* |
Nonsense |
16/16 |
- |
3-12645699-G-A |
RAF1 |
c.770C>T |
p.S257L |
Missense |
7/17 |
- |
16-72993831-A-C |
ZFHX3 |
c.214T>G |
p.S72A |
Missense |
2/10 |
- |
16-72991715-A-G |
ZFHX3 |
c.2330T>C |
p.V777A |
Missense |
2/10 |
- |
5-67588148-G-A |
PIK3R1 |
c.978G>A |
p.M326I |
Missense |
8/16 |
- |
16-72992667-C-G |
ZFHX3 |
c.1378G>C |
p.E460Q |
Missense |
2/10 |
- |
19-1223125-C-G |
STK11 |
c.1062C>G |
p.F354L |
Missense |
8/10 |
- |
18-60985773-C-T |
BCL2 |
c.127G>A |
p.A43T |
Missense |
2/3 |
- |
14-38061742-C-T |
FOXA1 |
c.247G>A |
p.A83T |
Missense |
2/2 |
- |
4-187629770-A-C |
FAT1 |
c.1212T>G |
p.S404R |
Missense |
2/27 |
- |
17-29496986-A-T |
NF1 |
c.557A>T |
p.D186V |
Missense |
5/58 |
- |
2-21231524-G-A |
APOB |
c.8216C>T |
p.P2739L |
Missense |
26/29 |
- |
2-21250914-G-A |
APOB |
c.1853C>T |
p.A618V |
Missense |
14/29 |
- |
7-6026988-G-A |
PMS2 |
c.1408C>T |
p.P470S |
Missense |
11/15 |
- |
22-36684354-T-C |
MYH9 |
c.4876A>G |
p.I1626V |
Missense |
34/41 |
- |
5-112175423-C-T |
APC |
c.4132C>T |
p.Q1378* |
Nonsense |
16/16 |
- |
17-7577096-T-C |
TP53 |
c.842A>G |
p.D281G |
Missense |
8/11 |
- |
17-7578541-A-T |
TP53 |
c.389T>A |
p.L130H |
Missense |
5/11 |
- |
7-55227953-A-G |
EGFR |
c.1420A>G |
p.T474A |
Missense |
12/28 |
- |
2-29416366-G-C |
ALK |
c.4587C>G |
p.D1529E |
Missense |
29/29 |
- |
17-7579705-C-T |
TP53 |
c.91G>A |
p.V31I |
Missense |
3/11 |
- |
12-49434235-C-T |
KMT2D |
c.7318G>A |
p.V2440I |
Missense |
32/55 |
- |
12-49434999-A-G |
KMT2D |
c.6554T>C |
p.L2185P |
Missense |
32/55 |
- |
4-1803246-C-T |
FGFR3 |
c.598C>T |
p.R200C |
Missense |
5/18 |
- |
4-1803601-C-T |
FGFR3 |
c.779C>T |
p.P260L |
Missense |
7/18 |
- |
22-36700168-G-A |
MYH9 |
c.2263C>T |
p.R755C |
Missense |
19/41 |
- |
12-49436060-G-A |
KMT2D |
c.5921C>T |
p.T1974M |
Missense |
29/55 |
- |
22-36692946-G-A |
MYH9 |
c.3215C>T |
p.A1072V |
Missense |
25/41 |
- |
22-36745241-T-C |
MYH9 |
c.41A>G |
p.K14R |
Missense |
2/41 |
- |
5-56177443-G-A |
MAP3K1 |
c.2416G>A |
p.D806N |
Missense |
14/20 |
- |
6-161519350-CCTG-C |
MAP3K4 |
c.3596_3598delCTG |
p.A1199del |
InFrameDeletion |
17/27 |
- |
3-178952076-A-G |
PIK3CA |
c.3131A>G |
p.N1044S |
Missense |
21/21 |
- |
X-153596212-G-A |
FLNA |
c.620C>T |
p.P207L |
Missense |
3/48 |
- |
17-7578524-G-C |
TP53 |
c.406C>G |
p.Q136E |
Missense |
5/11 |
- |
4-106196951-A-G |
TET2 |
c.5284A>G |
p.I1762V |
Missense |
11/11 |
- |
6-37139063-G-A |
PIM1 |
c.403G>A |
p.E135K |
Missense |
4/6 |
- |
2-21260084-G-A |
APOB |
c.581C>T |
p.T194M |
Missense |
6/29 |
- |
7-151932961-G-A |
KMT2C |
c.2710C>T |
p.R904* |
Nonsense |
16/59 |
- |
5-35861068-T-C |
IL7R |
c.197T>C |
p.I66T |
Missense |
2/8 |
- |
7-151882672-C-A |
KMT2C |
c.5053G>T |
p.A1685S |
Missense |
34/59 |
- |
7-151962265-C-T |
KMT2C |
c.1042G>A |
p.D348N |
Missense |
8/59 |
- |
7-151970951-C-T |
KMT2C |
c.851G>A |
p.R284Q |
Missense |
7/59 |
- |
18-45395793-C-T |
SMAD2 |
c.341G>A |
p.R114H |
Missense |
4/11 |
- |
17-7578449-C-T |
TP53 |
c.481G>A |
p.A161T |
Missense |
5/11 |
- |
13-72440658-TGCCGCC-T |
DACH1 |
c.244_249delGGCGGC |
- |
InFrameDeletion |
1/11 |
- |
6-29910801-C-A |
HLA-A |
c.341C>A |
p.A114D |
Missense |
2/8 |
- |
9-70863777-G-T |
CBWD3 |
c.394G>T |
p.D132Y |
Missense |
4/15 |
- |
4-187630590-G-A |
FAT1 |
c.392C>T |
p.A131V |
Missense |
2/27 |
- |
6-29910716-C-G |
HLA-A |
c.256C>G |
p.Q86E |
Missense |
2/8 |
- |
6-29910730-T-A |
HLA-A |
c.270T>A |
p.N90K |
Missense |
2/8 |
- |
X-41205855-C-T |
DDX3X |
c.1595C>T |
p.T532M |
Missense |
14/17 |
- |
3-178952086-T-A |
PIK3CA |
c.3141T>A |
p.H1047Q |
Missense |
21/21 |
- |
17-16097870-C-A |
NCOR1 |
c.14G>T |
p.G5V |
Missense |
2/46 |
- |
7-151945225-T-C |
KMT2C |
c.2294A>G |
p.E765G |
Missense |
14/59 |
- |
14-92537354-C-G |
ATXN3 |
c.916G>C |
p.G306R |
Missense |
10/11 |
- |
17-63533904-G-A |
AXIN2 |
c.1250C>T |
p.A417V |
Missense |
6/11 |
- |
6-29911228-A-C |
HLA-A |
c.527A>C |
p.E176A |
Missense |
3/8 |
- |
5-56176548-C-T |
MAP3K1 |
c.2098C>T |
p.Q700* |
Nonsense |
12/20 |
- |
1-158619728-A-C |
SPTA1 |
c.3487T>G |
p.S1163A |
Missense |
25/52 |
- |
11-108117799-G-A |
ATM |
c.1010G>A |
p.R337H |
Missense |
8/63 |
- |
16-68847225-C-T |
CDH1 |
c.1147C>T |
p.Q383* |
Nonsense |
9/16 |
- |
4-187628398-C-G |
FAT1 |
c.2584G>C |
p.V862L |
Missense |
2/27 |
- |
7-151970859-C-T |
KMT2C |
c.943G>A |
p.G315S |
Missense |
7/59 |
- |
7-151970877-G-A |
KMT2C |
c.925C>T |
p.P309S |
Missense |
7/59 |
- |
9-137313594-C-T |
RXRA |
c.853C>T |
p.R285W |
Missense |
6/10 |
- |
5-56177743-G-A |
MAP3K1 |
c.2716G>A |
p.V906I |
Missense |
14/20 |
- |
1-158612236-A-G |
SPTA1 |
c.4702T>C |
p.C1568R |
Missense |
33/52 |
- |
4-55561758-G-A |
KIT |
c.148G>A |
p.V50M |
Missense |
2/21 |
- |
3-178948044-A-G |
PIK3CA |
c.2816A>G |
p.D939G |
Missense |
20/21 |
- |
6-29910750-C-T |
HLA-A |
c.290C>T |
p.T97I |
Missense |
2/8 |
- |
6-29910742-G-C |
HLA-A |
c.282G>C |
p.Q94H |
Missense |
2/8 |
- |
7-151945334-T-C |
KMT2C |
c.2185A>G |
p.N729D |
Missense |
14/59 |
- |
6-29911203-A-C |
HLA-A |
c.502A>C |
p.K168Q |
Missense |
3/8 |
- |
7-151945204-G-A |
KMT2C |
c.2315C>T |
p.S772L |
Missense |
14/59 |
- |
7-151970859-C-A |
KMT2C |
c.943G>T |
p.G315C |
Missense |
7/59 |
- |
6-29910557-T-A |
HLA-A |
c.97T>A |
p.F33I |
Missense |
2/8 |
- |
1-120572547-T-C |
NOTCH2 |
c.137A>G |
p.N46S |
Missense |
2/34 |
- |
7-151945071-G-GT |
KMT2C |
c.2447_2447dup |
p.Y816* |
Nonsense |
14/59 |
- |
17-56448297-C-T |
RNF43 |
c.350G>A |
p.R117H |
Missense |
3/10 |
- |
6-29910558-T-C |
HLA-A |
c.98T>C |
p.F33S |
Missense |
2/8 |
- |
4-187542755-T-C |
FAT1 |
c.4985A>G |
p.N1662S |
Missense |
10/27 |
- |
4-187509861-G-C |
FAT1 |
c.13652C>G |
p.A4551G |
Missense |
27/27 |
- |
7-6026775-T-C |
PMS2 |
c.1621A>G |
p.K541E |
Missense |
11/15 |
- |
13-28624294-G-A |
FLT3 |
c.680C>T |
p.T227M |
Missense |
6/24 |
- |
14-92537387-T-G |
ATXN3 |
c.883A>C |
p.K295Q |
Missense |
10/11 |
- |
12-14587301-A-G |
ATF7IP |
c.1589A>G |
p.K530R |
Missense |
3/15 |
- |
4-187525020-A-C |
FAT1 |
c.10660T>G |
p.S3554A |
Missense |
19/27 |
- |
14-103342049-T-C |
TRAF3 |
c.386T>C |
p.M129T |
Missense |
5/12 |
- |
14-92548785-C-T |
ATXN3 |
c.634G>A |
p.V212M |
Missense |
8/11 |
- |
14-21899631-C-T |
CHD8 |
c.172G>A |
p.V58M |
Missense |
2/38 |
- |
7-151949068-C-G |
KMT2C |
c.1577G>C |
p.R526P |
Missense |
11/59 |
- |
6-31323337-T-C |
HLA-B |
c.652A>G |
p.I218V |
Missense |
4/8 |
- |
6-1313952-A-G |
FOXQ1 |
c.1013A>G |
p.E338G |
Missense |
1/1 |
- |
19-622336-T-G |
POLRMT |
c.1664A>C |
p.E555A |
Missense |
9/21 |
- |
4-187629538-C-T |
FAT1 |
c.1444G>A |
p.V482I |
Missense |
2/27 |
- |
6-26056604-G-A |
H1-2 |
c.53C>T |
p.A18V |
Missense |
1/1 |
- |
4-187538942-T-G |
FAT1 |
c.8798A>C |
p.Q2933P |
Missense |
10/27 |
- |
17-44109474-G-A |
KANSL1 |
c.3029C>T |
p.P1010L |
Missense |
14/15 |
- |
6-31324536-T-G |
HLA-B |
c.272A>C |
p.Y91S |
Missense |
2/8 |
- |
1-120572572-C-T |
NOTCH2 |
c.112G>A |
p.E38K |
Missense |
2/34 |
- |
4-106155751-G-A |
TET2 |
c.652G>A |
p.V218M |
Missense |
3/11 |
- |
18-42532693-C-A |
SETBP1 |
c.3388C>A |
p.P1130T |
Missense |
4/6 |
- |
7-151932916-C-G |
KMT2C |
c.2755G>C |
p.V919L |
Missense |
16/59 |
- |
4-187627792-T-C |
FAT1 |
c.3190A>G |
p.R1064G |
Missense |
2/27 |
- |
4-187531022-A-G |
FAT1 |
c.10001T>C |
p.V3334A |
Missense |
15/27 |
- |
2-21266774-GGCAGCGCCA-G |
APOB |
c.35_43delTGGCGCTGC |
p.L12_L14del |
InFrameDeletion |
1/29 |
- |
4-187629140-G-C |
FAT1 |
c.1842C>G |
p.F614L |
Missense |
2/27 |
- |
5-56177848-TCAA-T |
MAP3K1 |
c.2845_2847delACA |
p.T949del |
InFrameDeletion |
14/20 |
- |
1-120611960-C-T |
NOTCH2 |
c.61G>A |
p.A21T |
Missense |
1/34 |
- |
6-29910725-C-G |
HLA-A |
c.265C>G |
p.R89G |
Missense |
2/8 |
- |
18-42532606-G-A |
SETBP1 |
c.3301G>A |
p.V1101I |
Missense |
4/6 |
- |
16-72831357-CTTG-C |
ZFHX3 |
c.5221_5223delCAA |
p.Q1741del |
InFrameDeletion |
9/10 |
- |
6-29910340-A-G |
HLA-A |
c.10A>G |
p.M4V |
Missense |
1/8 |
- |
16-72821618-ACCG-A |
ZFHX3 |
c.10554_10556delCGG |
p.G3527del |
InFrameDeletion |
10/10 |
- |
6-31324506-C-T |
HLA-B |
c.302G>A |
p.S101N |
Missense |
2/8 |
- |
12-31944778-T-C |
H3-5 |
c.323A>G |
p.N108S |
Missense |
1/1 |
- |
6-31324154-G-A |
HLA-B |
c.409C>T |
p.H137Y |
Missense |
3/8 |
- |
4-187540635-T-G |
FAT1 |
c.7105A>C |
p.T2369P |
Missense |
10/27 |
- |
4-187540918-G-C |
FAT1 |
c.6822C>G |
p.D2274E |
Missense |
10/27 |
- |
4-187549428-C-T |
FAT1 |
c.4690G>A |
p.A1564T |
Missense |
9/27 |
- |
7-151859683-G-A |
KMT2C |
c.10979C>T |
p.S3660L |
Missense |
43/59 |
- |
4-55575594-G-A |
KIT |
c.1120G>A |
p.V374I |
Missense |
7/21 |
- |
14-92537396-G-GCTGCTGCTGC |
ATXN3 |
c.873_874insGCAGCAGCAG |
p.Q292Afs*29 |
SpliceAcceptorInsertion |
10/11 |
- |
9-139405111-G-A |
NOTCH1 |
c.2734C>T |
p.R912W |
Missense |
17/34 |
- |
6-161494597-G-A |
MAP3K4 |
c.2050G>A |
p.D684N |
Missense |
5/27 |
- |
3-121229066-T-C |
POLQ |
c.1636A>G |
p.T546A |
Missense |
11/30 |
- |
18-42643270-G-T |
SETBP1 |
c.4398G>T |
p.E1466D |
Missense |
6/6 |
- |
19-13319691-G-GGGT |
CACNA1A |
c.6658_6659insACC |
p.H2219dup |
InFrameInsertion |
46/47 |
- |
7-151945256-G-A |
KMT2C |
c.2263C>T |
p.Q755* |
Nonsense |
14/59 |
- |
13-33344896-AT-TG |
PDS5B |
c.4169_4170delATinsTG |
p.N1390M |
Missense |
33/35 |
- |
17-58740630-A-T |
PPM1D |
c.1535A>T |
p.N512I |
Missense |
6/6 |
- |
2-70315174-T-A |
PCBP1 |
c.299T>A |
p.L100Q |
Missense |
1/1 |
- |
5-112164663-T-TA |
APC |
c.1738_1738dupA |
p.E582Gfs*20 |
SpliceDonorInsertion |
14/16 |
- |
12-6700659-G-A |
CHD4 |
c.3313C>T |
p.R1105W |
Missense |
22/40 |
- |
7-151932997-C-T |
KMT2C |
c.2674G>A |
p.G892R |
Missense |
16/59 |
- |
7-151932945-C-T |
KMT2C |
c.2726G>A |
p.R909K |
Missense |
16/59 |
- |
5-112175468-CT-C |
APC |
c.4179delT |
p.D1394Ifs*21 |
Frameshift |
16/16 |
- |
21-36164605-A-G |
RUNX1 |
c.1270T>C |
p.S424P |
Missense |
9/9 |
- |
16-3781323-AAGG-A |
CREBBP |
c.5039_5041delCCT |
p.S1680del |
InFrameDeletion |
30/31 |
- |
17-7579314-T-C |
TP53 |
c.373A>G |
p.T125A |
Missense |
4/11 |
- |
17-16068377-C-G |
NCOR1 |
c.534G>C |
p.K178N |
Missense |
5/46 |
- |
6-152415657-C-T |
ESR1 |
c.1507C>T |
p.R503W |
Missense |
7/8 |
- |
7-151962290-C-G |
KMT2C |
c.1017G>C |
p.K339N |
Missense |
8/59 |
- |
1-27087443-C-T |
ARID1A |
c.2017C>T |
p.Q673* |
Nonsense |
5/20 |
- |
16-2138118-G-A |
TSC2 |
c.5138G>A |
p.R1713H |
Missense |
40/42 |
- |
2-46609572-A-C |
EPAS1 |
c.2296A>C |
p.T766P |
Missense |
15/16 |
- |
7-151935853-T-C |
KMT2C |
c.2591A>G |
p.E864G |
Missense |
15/59 |
- |
7-151927025-A-G |
KMT2C |
c.2959T>C |
p.Y987H |
Missense |
18/59 |
- |
7-151927021-C-A |
KMT2C |
c.2963G>T |
p.C988F |
Missense |
18/59 |
- |
7-2968245-C-T |
CARD11 |
c.1741G>A |
p.A581T |
Missense |
13/25 |
- |
18-48593466-C-T |
SMAD4 |
c.1217C>T |
p.A406V |
Missense |
10/12 |
- |
3-178916933-A-G |
PIK3CA |
c.320A>G |
p.N107S |
Missense |
2/21 |
- |
18-48584527-A-C |
SMAD4 |
c.700A>C |
p.S234R |
Missense |
6/12 |
- |
7-151962126-C-T |
KMT2C |
c.1181G>A |
p.C394Y |
Missense |
8/59 |
- |
10-89711895-G-T |
PTEN |
c.513G>T |
p.Q171H |
Missense |
6/9 |
- |
12-133256105-C-T |
POLE |
c.556G>A |
p.A186T |
Missense |
6/49 |
- |
4-106197365-G-A |
TET2 |
c.5698G>A |
p.V1900I |
Missense |
11/11 |
- |
5-112174026-T-A |
APC |
c.2735T>A |
p.L912* |
Nonsense |
16/16 |
- |
1-27100914-A-G |
ARID1A |
c.4196A>G |
p.Q1399R |
Missense |
18/20 |
- |
1-27057936-GC-G |
ARID1A |
c.1650delC |
p.Y551Tfs*68 |
Frameshift |
3/20 |
- |
2-148657040-GA-G |
ACVR2A |
c.285delA |
p.D96Tfs*54 |
Frameshift |
3/11 |
- |
5-112179035-GA-G |
APC |
c.7749delA |
p.A2584Qfs*9 |
Frameshift |
16/16 |
- |
19-1434835-G-C |
DAZAP1 |
c.1148G>C |
p.G383A |
Missense |
12/12 |
- |
17-7216092-G-A |
GPS2 |
c.967C>T |
p.R323* |
Nonsense |
11/11 |
- |
14-92537354-C-CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ATXN3 |
c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
p.Q296_Q305dup |
InFrameInsertion |
10/11 |
- |
17-7216143-T-C |
GPS2 |
c.916A>G |
p.T306A |
Missense |
11/11 |
- |
1-158597507-G-C |
SPTA1 |
c.5572C>G |
p.L1858V |
Missense |
40/52 |
- |
4-1980558-G-GC |
NSD2 |
c.4028_4028dup |
p.E1344Rfs*91 |
Frameshift |
22/22 |
- |
17-41246418-C-T |
BRCA1 |
c.1130G>A |
p.S377N |
Missense |
10/23 |
- |
17-56435160-A-AC |
RNF43 |
c.1976_1976dupG |
p.P660Sfs*87 |
Frameshift |
9/10 |
- |
17-37881117-C-T |
ERBB2 |
c.2446C>T |
p.R816C |
Missense |
20/27 |
- |
12-133257806-G-A |
POLE |
c.122C>T |
p.T41M |
Missense |
2/49 |
- |
12-25398243-T-A |
KRAS |
c.76A>T |
p.N26Y |
Missense |
2/5 |
- |
6-26056286-C-G |
H1-2 |
c.371G>C |
p.G124A |
Missense |
1/1 |
- |
X-53407978-A-C |
SMC1A |
c.3468T>G |
p.D1156E |
Missense |
23/25 |
- |
16-72828867-T-C |
ZFHX3 |
c.7714A>G |
p.M2572V |
Missense |
9/10 |
- |
14-21869061-C-A |
CHD8 |
c.4343G>T |
p.R1448L |
Missense |
22/38 |
- |
1-27056151-C-T |
ARID1A |
c.1147C>T |
p.P383S |
Missense |
2/20 |
- |