PDMR-746718~042-R~X22-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
ABCA4p.E2046K
Missense
SNP
0.410
2--
ABCC5-
-
-
-
3Gain-
ABCF3-
-
-
-
3Gain-
ABI1-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC026316.5-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC104472.3-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACAP1p.E516D
Missense
SNP
0.407
2--
ACAP2-
-
-
-
3Gain-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACTL6A-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADCY5-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
3Gain-
AGO4p.D457Y
Missense
SNP
0.433
2--
AGTR1-
-
-
-
3Gain-
AHNAKp.E5254Q
Missense
SNP
0.571
2--
AHSG-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
ALDH1L1-
-
-
-
3Gain-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
AMIGO2p.R465T
Missense
SNP
0.473
2--
AMOTL2-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANHXp.R67H
Missense
SNP
0.509
2--
ANKFY1p.L203V
Missense
SNP
0.425
2--
ANKRD10-
-
-
-
3Gain-
ANKRD16-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKS6p.S854Y
Missense
SNP
0.459
2--
ANKUB1-
-
-
-
3Gain-
AP2M1-
-
-
-
3Gain-
APBB1IP-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
ARGFX-
-
-
-
3Gain-
ARHGAP12-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGEF26-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ATP11A-
-
-
-
3Gain-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2C1-
-
-
-
3Gain-
ATP4B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
AZI2p.E15K
Missense
SNP
0.550
2--
B3GALNT1-
-
-
-
3Gain-
B3GNT5-
-
-
-
3Gain-
B4GALT4-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BAZ1Ap.Q968E
Missense
SNP
0.481
2--
BCHE-
-
-
-
3Gain-
BCL6-
-
-
-
3Gain-
BDH1-
-
-
-
3Gain-
BEND7-
-
-
-
1Loss-
BFSP2-
-
-
-
3Gain-
BMI1-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BSXp.R140Q
Missense
SNP
0.481
2--
BTAF1p.S955*
Nonsense
SNP
0.367
2--
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C1orf35p.E76Q
Missense
SNP
0.398
2--
C1QL3-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
CACNB2-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CARD6p.F724L
Missense
SNP
0.471
2--
CARS2-
-
-
-
3Gain-
CASC10-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CCAR1p.H462D
Missense
SNP
0.439
2--
CCDC14-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC40p.D284H
Missense
SNP
0.488
2--
CCDC50-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC7-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CD80p.F19L
Missense
SNP
0.652
3Gain-
CD86-
-
-
-
3Gain-
CDC123-
-
-
-
1Loss-
CDC16-
-
-
-
3Gain-
CDKN2A-
-
-
-
0Del-
CDKN2B-
-
-
-
0Del-
CDNF-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CELF2-
-
-
-
1Loss-
CENPJp.E646K
Missense
SNP
0.511
2--
CEP19-
-
-
-
3Gain-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP72-
-
-
-
3Gain-
CERS2p.F87L
Missense
SNP
0.346
2--
CFAP100-
-
-
-
3Gain-
CFHR4p.D177N
Missense
SNP
0.530
2--
CGAp.H145Y
Missense
SNP
0.450
2--
CHAMP1-
-
-
-
3Gain-
CHCHD6-
-
-
-
3Gain-
CHRD-
-
-
-
3Gain-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CISHp.K89N
Missense
SNP
0.519
2--
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLPTM1L-
-
-
-
3Gain-
CLRN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CNBP-
-
-
-
3Gain-
CNTLNp.E469K
Missense
SNP
0.447
2--
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COMMD2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COX17-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPN2-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CSMD3p.E476K
p.H418Y
Missense
Missense
SNP
SNP
0.380
0.397
2--
CSTA-
-
-
-
3Gain-
CUBN-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL3p.E687Q
Missense
SNP
0.442
2--
CUL4A-
-
-
-
3Gain-
CUL9p.D2119H
Missense
SNP
0.488
2--
CYP4F12p.E509K
Missense
SNP
0.505
2--
DBR1-
-
-
-
3Gain-
DCLRE1C-
-
-
-
1Loss-
DCSTAMPp.E335Q
Missense
SNP
0.449
2--
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DHTKD1-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DIP2C-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DLG1-
-
-
-
3Gain-
DMRTA1-
-
-
-
0Del-
DMXL1p.E1797K
Missense
SNP
0.550
2--
DNAH2p.E1287K
Missense
SNP
0.484
2--
DNAJB11-
-
-
-
3Gain-
DNAJB8-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC13-
-
-
-
3Gain-
DNAJC19-
-
-
-
3Gain-
DOK2p.Q323*
Nonsense
SNP
0.512
2--
DOPEY2p.K618N
Missense
SNP
0.491
NDND-
DPP10p.E795*
Nonsense
SNP
0.380
2--
DTX3L-
-
-
-
3Gain-
DUSP1p.E239K
Missense
SNP
0.342
2--
DVL3-
-
-
-
3Gain-
DZIP1L-
-
-
-
3Gain-
EAF2-
-
-
-
3Gain-
EBLN1-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECHDC3-
-
-
-
1Loss-
ECM2p.G54A
Missense
SNP
0.411
2--
ECT2-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEFSEC-
-
-
-
3Gain-
EEPD1p.R172C
Missense
SNP
0.473
2--
EFCAB12-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EGFp.W26*
Nonsense
SNP
0.485
2--
EHHADH-
-
-
-
3Gain-
EIF2A-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF4A2-
-
-
-
3Gain-
EIF4G1-
-
-
-
3Gain-
EIF5A2-
-
-
-
3Gain-
ELAVL2-
-
-
-
0Del-
ENKUR-
-
-
-
1Loss-
EOMESp.R597Q
Missense
SNP
0.438
2--
EPC1-
-
-
-
1Loss-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPN3p.E253K
Missense
SNP
0.380
2--
ERICH6-
-
-
-
3Gain-
ESPNLp.D268H
Missense
SNP
0.530
2--
ESYT3-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
F10-
-
-
-
3Gain-
F7-
-
-
-
3Gain-
FAIM-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM162A-
-
-
-
3Gain-
FAM171A1-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM83Bp.H126N
Missense
SNP
0.430
2--
FBH1-
-
-
-
1Loss-
FBN2p.S143*
Nonsense
SNP
0.443
2--
FBXO40-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FGF12-
-
-
-
3Gain-
FGFR3p.S249C
Missense
SNP
0.459
2--
FNDC1p.S492F
Missense
SNP
0.432
2--
FNDC3B-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FRMD4A-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FXR1-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
FZD8-
-
-
-
1Loss-
GAD2-
-
-
-
1Loss-
GALNT11-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GATA2-
-
-
-
3Gain-
GATA3-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GFM1-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GJD4-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNASp.F134L
Missense
SNP
0.549
2--
GNB4-
-
-
-
3Gain-
GOLGB1p.Q3004*
Nonsense
SNP
0.325
3Gain-
GOLIM4-
-
-
-
3Gain-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GRIK1p.D153H
Missense
SNP
0.430
2--
GRK1-
-
-
-
3Gain-
GRK7-
-
-
-
3Gain-
GRM5p.D545H
Missense
SNP
0.378
2--
GRTP1-
-
-
-
3Gain-
GSK3B-
-
-
-
3Gain-
GTF2E1-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HCLS1-
-
-
-
3Gain-
HEATR5Ap.R1651T
Missense
SNP
0.438
2--
HEG1-
-
-
-
3Gain-
HES1-
-
-
-
3Gain-
HGD-
-
-
-
3Gain-
HIC1p.S252F
Missense
SNP
0.481
2--
HIST1H3Bp.R135T
p.E74K
Missense
Missense
SNP
SNP
0.472
0.413
2--
HLTF-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HPS3-
-
-
-
3Gain-
HRASLS-
-
-
-
3Gain-
HRG-
-
-
-
3Gain-
HSDL2p.M371I
Missense
SNP
0.560
2--
HSPA14-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HTR3Cp.R24T
Missense
SNP
0.324
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HUNKp.S468*
Nonsense
SNP
0.504
2--
IDH3Bp.S36*
Nonsense
SNP
0.542
2--
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT80-
-
-
-
3Gain-
IGDCC4p.S804C
Missense
SNP
0.450
2--
IGF2BP2-
-
-
-
3Gain-
IGFBP2p.L22P
Missense
SNP
0.283
2--
IGLV2-33p.H53Y
Missense
SNP
0.521
NDND-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IL12A-
-
-
-
3Gain-
IL15RA-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL1RL1p.E146Q
Missense
SNP
0.366
2--
IL20RB-
-
-
-
3Gain-
IL2RA-
-
-
-
1Loss-
ILDR1-
-
-
-
3Gain-
IMPG1p.R599P
Missense
SNP
0.474
2--
ING1-
-
-
-
3Gain-
INPP5Ap.L110V
Missense
SNP
0.451
2--
IQCB1-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IRS2-
-
-
-
3Gain-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITGA8-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB5-
-
-
-
3Gain-
ITIH2-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITM2Bp.R51K
Missense
SNP
0.451
2--
JCAD-
-
-
-
1Loss-
KALRN-
-
-
-
3Gain-
KBTBD12-
-
-
-
3Gain-
KBTBD6p.Q400E
Missense
SNP
0.510
2--
KBTBD8-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KDM6Ap.Q753*
Nonsense
SNP
0.872
NDND-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIF11p.S3W
Missense
SNP
0.446
2--
KIF17p.E321Q
Missense
SNP
0.502
2--
KIF5B-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF6-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL36p.E233Q
Missense
SNP
0.474
2--
KLHL6-
-
-
-
3Gain-
KMT2Ap.R2641K
Missense
SNP
0.504
2--
KMT2C-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KRT6A-
-
-
-
2-RNA5-8SN2--KRT6A
KY-
-
-
-
3Gain-
L2HGDHp.E142Q
Missense
SNP
0.349
2--
LAMB4p.E570K
Missense
SNP
0.429
2--
LAMP1-
-
-
-
3Gain-
LAMP3-
-
-
-
3Gain-
LAMTOR4p.E121Q
Missense
SNP
0.398
2--
LARP4B-
-
-
-
1Loss-
LARP6p.E485Q
Missense
SNP
0.574
2--
LEKR1-
-
-
-
3Gain-
LIPH-
-
-
-
3Gain-
LMBR1p.L358V
Missense
SNP
0.494
2--
LMLN-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRCH3-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC58-
-
-
-
3Gain-
LRRIQ4-
-
-
-
3Gain-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSRp.S444F
p.R445W
Missense
Missense
SNP
SNP
0.507
0.518
2--
LXN-
-
-
-
3Gain-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MAGEF1-
-
-
-
3Gain-
MALRD1-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K8-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MASP1-
-
-
-
3Gain-
MASTL-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD4-
-
-
-
3Gain-
MBNL1-
-
-
-
3Gain-
MCCC1-
-
-
-
3Gain-
MCF2L-
-
-
-
3Gain-
MCF2L2-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MECOM-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED13p.D2008H
Missense
SNP
0.431
2--
MEIG1-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MFN1-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MGAp.V2045I
p.R2173T
Missense
Missense
SNP
SNP
0.492
0.504
2--
MGAT3p.S78L
Missense
SNP
0.515
2--
MGLL-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4B-
-
-
-
3Gain-
MKX-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLLT10-
-
-
-
1Loss-
MME-
-
-
-
3Gain-
MMRN1p.Q143E
Missense
SNP
0.462
2--
MPP7-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRC1-
-
-
-
1Loss-
MROH2Bp.S82C
Missense
SNP
0.507
2--
MRPL3-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSRB2-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTX3p.R110K
Missense
SNP
0.395
2--
MUC1p.R360G
Missense
SNP
0.481
2--
MUC13-
-
-
-
3Gain-
MUC20p.S577Wfs*49
Frame_Shift_Del
DEL
0.542
3Gain-
MUC4p.A3785V
Missense
SNP
0.441
3Gain-
MYBPC1p.K376N
Missense
SNP
0.509
2--
MYCBP2p.G4092A
Missense
SNP
0.531
2--
MYH9p.E495K
Missense
SNP
0.457
2--
MYLK-
-
-
-
3Gain-
MYNN-
-
-
-
3Gain-
MYO3A-
-
-
-
1Loss-
N4BP2L2p.S698L
Missense
SNP
0.436
2--
NAALADL2-
-
-
-
3Gain-
NANOS1p.E178K
Missense
SNP
0.512
2--
NAP1L3p.E159K
Missense
SNP
0.407
NDND-
NAXD-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCOA6p.S520L
Missense
SNP
0.356
2--
NDUFB4p.R57Q
Missense
SNP
0.343
3Gain-
NDUFB5-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NEFHp.K947N
Missense
SNP
0.404
2--
NEK11-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NFASCp.D1217H
Missense
SNP
0.524
2--
NFATC3p.H70Y
Missense
SNP
0.482
2--
NINp.L1906F
Missense
SNP
0.455
2--
NKD2-
-
-
-
3Gain-
NLGN1-
-
-
-
3Gain-
NLRC4p.R918K
Missense
SNP
0.376
2--
NLRP4p.S7C
Missense
SNP
0.413
2--
NMD3-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NOL4Lp.S310F
Missense
SNP
0.585
2--
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NR1I2-
-
-
-
3Gain-
NRP1p.Q382*
Nonsense
SNP
0.929
1Loss-
NRROS-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
OLAH-
-
-
-
1Loss-
OLFM4p.L109V
Missense
SNP
0.500
2--
OPA1-
-
-
-
3Gain-
OPTN-
-
-
-
1Loss-
OR2L2p.S229C
Missense
SNP
0.551
2--
OR6M1p.E20D
Missense
SNP
0.534
2--
OSBPL11-
-
-
-
3Gain-
OSTN-
-
-
-
3Gain-
OTOL1-
-
-
-
3Gain-
OTUD1-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP9-
-
-
-
3Gain-
PCCB-
-
-
-
3Gain-
PCDHGA2p.R80L
Missense
SNP
0.411
2--
PCID2-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDE4Cp.Q98*
Nonsense
SNP
0.625
2--
PDIA5-
-
-
-
3Gain-
PDSS1-
-
-
-
1Loss-
PEAK1p.E34K
Missense
SNP
0.371
2--
PEX5L-
-
-
-
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIK3CAp.E545K
Missense
SNP
0.589
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3R4-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLCH1-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLIN1p.E242K
Missense
SNP
0.489
2--
PLOD2-
-
-
-
3Gain-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXND1-
-
-
-
3Gain-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLQ-
-
-
-
3Gain-
POLR2H-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
PPM1L-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP2R3A-
-
-
-
3Gain-
PPP4R2p.E379K
Missense
SNP
0.370
2--
PQLC2L-
-
-
-
3Gain-
PRKCI-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROZ-
-
-
-
3Gain-
PRPF18-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PTCHD3-
-
-
-
1Loss-
PTENp.M134I
p.S227F
Missense
Missense
SNP
SNP
0.456
0.408
2--
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTX3-
-
-
-
3Gain-
PXYLP1-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
RAB12p.R214S
Missense
SNP
0.478
2--
RAB18-
-
-
-
1Loss-
RAB20-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RABL3-
-
-
-
3Gain-
RAP2B-
-
-
-
3Gain-
RARRES1-
-
-
-
3Gain-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
3Gain-
RASL12p.E148K
Missense
SNP
0.544
2--
RBM17-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RFC4-
-
-
-
3Gain-
RHO-
-
-
-
3Gain-
RHOBTB1p.R205*
Nonsense
SNP
0.392
2--
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--KRT6A
RNF13-
-
-
-
3Gain-
RNF168-
-
-
-
3Gain-
RNF7-
-
-
-
3Gain-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
RP11-310K10.1p.E565K
Missense
SNP
0.498
NDND-
RPA3p.D3N
Missense
SNP
0.478
2--
RPL22p.K16Efs*9
Frame_Shift_Ins
INS
0.256
2--
RPL22L1-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPN1-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPS6KC1p.S188F
Missense
SNP
0.441
2--
RSRC1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUNX1p.E456K
Missense
SNP
0.431
2--
RUVBL1-
-
-
-
3Gain-
RYK-
-
-
-
3Gain-
RYR2p.R1598K
p.E1815K
Missense
Missense
SNP
SNP
0.390
0.450
2--
SAMD7-
-
-
-
3Gain-
SCHIP1-
-
-
-
3Gain-
SCNN1Bp.E539Q
Missense
SNP
0.363
2--
SCX-
-
-
-
1Loss-
SEC22A-
-
-
-
3Gain-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEC62-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SEPHS1-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SFMBT2-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SI-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SLC12A7-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC15A2-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC26A11p.S467F
Missense
SNP
0.369
2--
SLC2A2-
-
-
-
3Gain-
SLC33A1-
-
-
-
3Gain-
SLC35B1p.S216L
Missense
SNP
0.340
2--
SLC35G2-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC51A-
-
-
-
3Gain-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A3-
-
-
-
3Gain-
SLC7A14-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C2p.S307L
Missense
SNP
0.388
2--
SLCO2A1-
-
-
-
3Gain-
SLITRK3-
-
-
-
3Gain-
SMAD3p.S422F
Missense
SNP
0.557
2--
SMARCA5-
-
-
-
3Gain-
SMC4-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMYD4p.G86E
Missense
SNP
0.344
2--
SNX4-
-
-
-
3Gain-
SOGA1p.S1322L
Missense
SNP
0.502
2--
SOX1-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SP100p.R182Q
Missense
SNP
0.482
2--
SPACA7-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPSB4-
-
-
-
3Gain-
SPTBN2p.R2211G
Missense
SNP
0.460
2--
SPTSSB-
-
-
-
3Gain-
SRPRB-
-
-
-
3Gain-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST8SIA6-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAG2p.E583*
Nonsense
SNP
0.971
NDND-
STAM-
-
-
-
1Loss-
STXBP5L-
-
-
-
3Gain-
SUCNR1-
-
-
-
3Gain-
SUV39H2-
-
-
-
1Loss-
SVEP1p.E3214Q
Missense
SNP
0.507
2--
SVIL-
-
-
-
1Loss-
TAF3-
-
-
-
1Loss-
TBC1D10Ap.E511K
Missense
SNP
0.459
2--
TBCCD1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TCEB3Bp.E461Q
Missense
SNP
0.593
NDND-
TCTEX1D2-
-
-
-
3Gain-
TECRLp.M329I
Missense
SNP
0.469
2--
TERT-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFDP1-
-
-
-
3Gain-
TFDP2-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
TIMMDC1-
-
-
-
3Gain-
TIPARP-
-
-
-
3Gain-
TLL1p.E496Q
Missense
SNP
0.390
2--
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMCO3-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM132Ap.Q877E
Missense
SNP
0.473
2--
TMEM132Ep.R548Q
Missense
SNP
0.453
2--
TMEM207-
-
-
-
3Gain-
TMEM212-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM39A-
-
-
-
3Gain-
TMEM41A-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNIK-
-
-
-
3Gain-
TNK2-
-
-
-
3Gain-
TOPBP1-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TPPP-
-
-
-
3Gain-
TPRA1p.S293F
Missense
SNP
0.275
3Gain-
TPRG1-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRAF3IP1p.R182Q
Missense
SNP
0.430
2--
TRAPPC4p.E27K
Missense
SNP
0.450
2--
TRDMT1-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIP13-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TSC22D2-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TUBA1Bp.E433Q
Missense
SNP
0.364
2--
TUBAL3-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP3-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBXN7-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UGT2A3p.R257Q
Missense
SNP
0.552
2--
UGT2B10p.W336*
Nonsense
SNP
0.581
2--
UMPS-
-
-
-
3Gain-
UNC79p.E1282K
Missense
SNP
0.497
2--
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
3Gain-
UPK1B-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
USP13-
-
-
-
3Gain-
USP15p.R710P
Missense
SNP
0.470
2--
USP6NL-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
VEPH1-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VPS8-
-
-
-
3Gain-
VWA5B2-
-
-
-
3Gain-
WAC-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WWTR1-
-
-
-
3Gain-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
YEATS2-
-
-
-
3Gain-
YME1L1-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBTB25p.S126L
Missense
SNP
0.519
2--
ZBTB38-
-
-
-
3Gain-
ZC3H4p.P1154T
Missense
SNP
0.435
2--
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC19-
-
-
-
3Gain-
ZEB1-
-
-
-
1Loss-
ZFHX3p.S6L
Missense
SNP
0.389
2--
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZMAT3-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF292p.H1927Y
Missense
SNP
0.407
2--
ZNF33A-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF560p.R532C
p.Q304*
Missense
Nonsense
SNP
SNP
0.479
0.475
2--
ZNF639-
-
-
-
3Gain-
ZXDC-
-
-
-
3Gain-