PDMR-746718~042-R~X20-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GNT-
-
-
-
3GainND
AADAC-
-
-
-
3GainND
AADACL2-
-
-
-
3GainND
ABCA4p.E2046K
Missense
SNP
0.540
2-ND
ABCC5-
-
-
-
3GainND
ABCF3-
-
-
-
3GainND
ABI1-
-
-
-
1LossND
ABTB1-
-
-
-
3GainND
AC009119.2-
-
-
-
3GainND
AC020636.2-
-
-
-
3GainND
AC026316.5-
-
-
-
3GainND
AC068631.2-
-
-
-
3GainND
AC069257.3-
-
-
-
3GainND
AC069444.2-
-
-
-
3GainND
AC079594.2-
-
-
-
3GainND
AC083800.1-
-
-
-
3GainND
AC104472.3-
-
-
-
3GainND
AC112504.2-
-
-
-
3GainND
AC117457.1-
-
-
-
3GainND
AC131160.1-
-
-
-
3GainND
ACAD11-
-
-
-
3GainND
ACAD9-
-
-
-
3GainND
ACAP1p.E516D
Missense
SNP
0.487
2-ND
ACAP2-
-
-
-
3GainND
ACBD5-
-
-
-
1LossND
ACBD7-
-
-
-
1LossND
ACKR4-
-
-
-
3GainND
ACPP-
-
-
-
3GainND
ACTL6A-
-
-
-
3GainND
ACTRT3-
-
-
-
3GainND
ADARB2-
-
-
-
1LossND
ADCY5-
-
-
-
3GainND
ADIPOQ-
-
-
-
3GainND
ADPRH-
-
-
-
3GainND
ADPRHL1-
-
-
-
3GainND
AGO4p.D457Y
Missense
SNP
0.401
2-ND
AGTR1-
-
-
-
3GainND
AHNAKp.E5254Q
Missense
SNP
0.459
2-ND
AHSG-
-
-
-
3GainND
AKR1C1-
-
-
-
1LossND
AKR1C2-
-
-
-
1LossND
AKR1C3-
-
-
-
1LossND
AKR1C4-
-
-
-
1LossND
AKR1C8P-
-
-
-
1LossND
AKR1E2-
-
-
-
1LossND
AL117339.5-
-
-
-
1LossND
AL157392.5-
-
-
-
1LossND
ALDH1L1-
-
-
-
3GainND
ALG1L-
-
-
-
3GainND
ALG1L2-
-
-
-
3GainND
ALG3-
-
-
-
3GainND
AMIGO2p.R465T
Missense
SNP
0.398
2-ND
AMOTL2-
-
-
-
3GainND
ANAPC13-
-
-
-
3GainND
ANHXp.R67H
Missense
SNP
0.481
2-ND
ANKFY1p.L203V
Missense
SNP
0.379
2-ND
ANKRD10-
-
-
-
3GainND
ANKRD16-
-
-
-
1LossND
ANKRD26-
-
-
-
1LossND
ANKRD30A-
-
-
-
1LossND
ANKS6p.S854Y
Missense
SNP
0.473
2-ND
ANKUB1-
-
-
-
3GainND
AP2M1-
-
-
-
3GainND
APBB1IP-
-
-
-
1LossND
APOD-
-
-
-
3GainND
ARGFX-
-
-
-
3GainND
ARHGAP12-
-
-
-
1LossND
ARHGAP21-
-
-
-
1LossND
ARHGAP31-
-
-
-
3GainND
ARHGEF26-
-
-
-
3GainND
ARHGEF7-
-
-
-
3GainND
ARL14-
-
-
-
3GainND
ARL5B-
-
-
-
1LossND
ARMC3-
-
-
-
1LossND
ARMC4-
-
-
-
1LossND
ARMC8-
-
-
-
3GainND
ASB13-
-
-
-
1LossND
ASTE1-
-
-
-
3GainND
ATP11A-
-
-
-
3GainND
ATP11B-
-
-
-
3GainND
ATP13A3-
-
-
-
3GainND
ATP13A4-
-
-
-
3GainND
ATP13A5-
-
-
-
3GainND
ATP1B3-
-
-
-
3GainND
ATP2C1-
-
-
-
3GainND
ATP4B-
-
-
-
3GainND
ATP5F1C-
-
-
-
1LossND
ATR-
-
-
-
3GainND
AZI2p.E15K
Missense
SNP
0.569
2-ND
B3GALNT1-
-
-
-
3GainND
B3GNT5-
-
-
-
3GainND
B4GALT4-
-
-
-
3GainND
BAMBI-
-
-
-
1LossND
BAZ1Ap.Q968E
Missense
SNP
0.446
2-ND
BCHE-
-
-
-
3GainND
BCL6-
-
-
-
3GainND
BDH1-
-
-
-
3GainND
BEND7-
-
-
-
1LossND
BFSP2-
-
-
-
3GainND
BMI1-
-
-
-
1LossND
BOP1-
-
-
-
1LossND
BRD9-
-
-
-
3GainND
BSXp.R140Q
Missense
SNP
0.506
2-ND
BTAF1p.S955*
Nonsense
SNP
0.387
2-ND
C10orf113-
-
-
-
1LossND
C10orf67-
-
-
-
1LossND
C1orf35p.E76Q
Missense
SNP
0.376
2-ND
C1QL3-
-
-
-
1LossND
C3orf22-
-
-
-
3GainND
C3orf30-
-
-
-
3GainND
C3orf33-
-
-
-
3GainND
C3orf56-
-
-
-
3GainND
C3orf58-
-
-
-
3GainND
C3orf70-
-
-
-
3GainND
C3orf80-
-
-
-
3GainND
CACNB2-
-
-
-
1LossND
CALML3-
-
-
-
1LossND
CALML5-
-
-
-
1LossND
CAMK1D-
-
-
-
1LossND
CAMK2N2-
-
-
-
3GainND
CARS2-
-
-
-
3GainND
CASC10-
-
-
-
1LossND
CASR-
-
-
-
3GainND
CCAR1p.H462D
Missense
SNP
0.480
2-ND
CCDC127-
-
-
-
3GainND
CCDC14-
-
-
-
3GainND
CCDC3-
-
-
-
1LossND
CCDC39-
-
-
-
3GainND
CCDC40p.D284H
Missense
SNP
0.557
2-ND
CCDC50-
-
-
-
3GainND
CCDC58-
-
-
-
3GainND
CCDC7-
-
-
-
1LossND
CCNL1-
-
-
-
3GainND
CCNY-
-
-
-
1LossND
CD80p.F19L
Missense
SNP
0.604
3GainND
CD86-
-
-
-
3GainND
CDC123-
-
-
-
1LossND
CDC16-
-
-
-
3GainND
CDKN2A-
-
-
-
0DelND
CDKN2B-
-
-
-
0DelND
CDNF-
-
-
-
1LossND
CDV3-
-
-
-
3GainND
CELF2-
-
-
-
1LossND
CENPJp.E646K
Missense
SNP
0.452
2-ND
CEP19-
-
-
-
3GainND
CEP63-
-
-
-
3GainND
CEP70-
-
-
-
3GainND
CEP72-
-
-
-
3GainND
CERS2p.F87L
Missense
SNP
0.491
2-ND
CFAP100-
-
-
-
3GainND
CFHR4p.D177N
Missense
SNP
0.452
2-ND
CGAp.H145Y
Missense
SNP
0.548
2-ND
CHAMP1-
-
-
-
3GainND
CHCHD6-
-
-
-
3GainND
CHRD-
-
-
-
3GainND
CHST13-
-
-
-
3GainND
CHST2-
-
-
-
3GainND
CISHp.K89N
Missense
SNP
0.482
2-ND
CLCN2-
-
-
-
3GainND
CLDN1-
-
-
-
3GainND
CLDN11-
-
-
-
3GainND
CLDN16-
-
-
-
3GainND
CLDN18-
-
-
-
3GainND
CLPTM1L-
-
-
-
3GainND
CLRN1-
-
-
-
3GainND
CLSTN2-
-
-
-
3GainND
CNBP-
-
-
-
3GainND
CNTLNp.E469K
Missense
SNP
0.418
2-ND
COL4A1-
-
-
-
3GainND
COL4A2-
-
-
-
3GainND
COL6A5-
-
-
-
3GainND
COL6A6-
-
-
-
3GainND
COMMD2-
-
-
-
3GainND
COMMD3-
-
-
-
1LossND
COMMD3-BMI1-
-
-
-
1LossND
COPB2-
-
-
-
3GainND
COPG1-
-
-
-
3GainND
COX17-
-
-
-
3GainND
CP-
-
-
-
3GainND
CPA3-
-
-
-
3GainND
CPB1-
-
-
-
3GainND
CPN2-
-
-
-
3GainND
CPNE4-
-
-
-
3GainND
CREM-
-
-
-
1LossND
CRYGS-
-
-
-
3GainND
CSMD3p.E476K
p.H418Y
Missense
Missense
SNP
SNP
0.544
0.464
2-ND
CSTA-
-
-
-
3GainND
CUBN-
-
-
-
1LossND
CUL2-
-
-
-
1LossND
CUL3p.E687Q
Missense
SNP
0.496
2-ND
CUL4A-
-
-
-
3GainND
CUL9p.D2119H
Missense
SNP
0.459
2-ND
CYP4F12p.E509K
Missense
SNP
0.422
2-ND
DBR1-
-
-
-
3GainND
DCLRE1C-
-
-
-
1LossND
DCSTAMPp.E335Q
Missense
SNP
0.343
2-ND
DCUN1D1-
-
-
-
3GainND
DCUN1D2-
-
-
-
3GainND
DGKG-
-
-
-
3GainND
DHTKD1-
-
-
-
1LossND
DHX36-
-
-
-
3GainND
DIP2C-
-
-
-
1LossND
DIRC2-
-
-
-
3GainND
DLG1-
-
-
-
3GainND
DMRTA1-
-
-
-
0DelND
DMXL1p.E1797K
Missense
SNP
0.400
2-ND
DNAH2p.E1287K
Missense
SNP
0.497
2-ND
DNAJB11-
-
-
-
3GainND
DNAJB8-
-
-
-
3GainND
DNAJC1-
-
-
-
1LossND
DNAJC13-
-
-
-
3GainND
DNAJC19-
-
-
-
3GainND
DOK2p.Q323*
Nonsense
SNP
0.467
2-ND
DOPEY2p.K618N
Missense
SNP
0.542
NDNDND
DPP10p.E795*
Nonsense
SNP
0.370
2-ND
DTX3L-
-
-
-
3GainND
DUSP1p.E239K
Missense
SNP
0.422
2-ND
DVL3-
-
-
-
3GainND
DZIP1L-
-
-
-
3GainND
EAF2-
-
-
-
3GainND
EBLN1-
-
-
-
1LossND
ECE2-
-
-
-
3GainND
ECHDC3-
-
-
-
1LossND
ECM2p.G54A
Missense
SNP
0.469
2-ND
ECT2-
-
-
-
3GainND
EEF1AKMT4-
-
-
-
3GainND
EEF1AKMT4-ECE2-
-
-
-
3GainND
EEFSEC-
-
-
-
3GainND
EEPD1p.R172C
Missense
SNP
0.489
2-ND
EFCAB12-
-
-
-
3GainND
EFCC1-
-
-
-
3GainND
EGFp.W26*
Nonsense
SNP
0.474
2-ND
EHHADH-
-
-
-
3GainND
EIF2A-
-
-
-
3GainND
EIF2B5-
-
-
-
3GainND
EIF4A2-
-
-
-
3GainND
EIF4G1-
-
-
-
3GainND
EIF5A2-
-
-
-
3GainND
ELAVL2-
-
-
-
0DelND
ENKUR-
-
-
-
1LossND
EOMESp.R597Q
Missense
SNP
0.384
2-ND
EPC1-
-
-
-
1LossND
EPHB1-
-
-
-
3GainND
EPHB3-
-
-
-
3GainND
EPN3p.E253K
Missense
SNP
0.457
2-ND
ERICH6-
-
-
-
3GainND
ESPNLp.D268H
Missense
SNP
0.497
2-ND
ESYT3-
-
-
-
3GainND
ETV5-
-
-
-
3GainND
F10-
-
-
-
3GainND
F7-
-
-
-
3GainND
FAIM-
-
-
-
3GainND
FAM107B-
-
-
-
1LossND
FAM131A-
-
-
-
3GainND
FAM162A-
-
-
-
3GainND
FAM171A1-
-
-
-
1LossND
FAM208B-
-
-
-
1LossND
FAM43A-
-
-
-
3GainND
FAM83Bp.H126N
Missense
SNP
0.475
2-ND
FBH1-
-
-
-
1LossND
FBN2p.S143*
Nonsense
SNP
0.469
2-ND
FBXO40-
-
-
-
3GainND
FBXO45-
-
-
-
3GainND
FETUB-
-
-
-
3GainND
FGF12-
-
-
-
3GainND
FGFR3p.S249C
Missense
SNP
0.490
2-ND
FNDC1p.S492F
Missense
SNP
0.541
2-ND
FNDC3B-
-
-
-
3GainND
FOXL2-
-
-
-
3GainND
FOXL2NB-
-
-
-
3GainND
FRMD4A-
-
-
-
1LossND
FSTL1-
-
-
-
3GainND
FXR1-
-
-
-
3GainND
FYTTD1-
-
-
-
3GainND
FZD8-
-
-
-
1LossND
GAD2-
-
-
-
1LossND
GALNT11-
-
-
-
1LossND
GAP43-
-
-
-
3GainND
GAS6-
-
-
-
3GainND
GATA2-
-
-
-
3GainND
GATA3-
-
-
-
1LossND
GDI2-
-
-
-
1LossND
GFM1-
-
-
-
3GainND
GHSR-
-
-
-
3GainND
GJD4-
-
-
-
1LossND
GK5-
-
-
-
3GainND
GMNC-
-
-
-
3GainND
GMPS-
-
-
-
3GainND
GNASp.F134L
Missense
SNP
0.507
2-ND
GNB4-
-
-
-
3GainND
GOLGB1p.Q3004*
Nonsense
SNP
0.316
3GainND
GOLIM4-
-
-
-
3GainND
GP5-
-
-
-
3GainND
GP9-
-
-
-
3GainND
GPR149-
-
-
-
3GainND
GPR156-
-
-
-
3GainND
GPR158-
-
-
-
1LossND
GPR160-
-
-
-
3GainND
GPR171-
-
-
-
3GainND
GPR87-
-
-
-
3GainND
GRIK1p.D153H
Missense
SNP
0.460
2-ND
GRK1-
-
-
-
3GainND
GRK7-
-
-
-
3GainND
GRTP1-
-
-
-
3GainND
GSK3B-
-
-
-
3GainND
GTF2E1-
-
-
-
3GainND
GTPBP4-
-
-
-
1LossND
GYG1-
-
-
-
3GainND
H1FOO-
-
-
-
3GainND
H1FX-
-
-
-
3GainND
HACD1-
-
-
-
1LossND
HACD2-
-
-
-
3GainND
HCLS1-
-
-
-
3GainND
HEATR5Ap.R1651T
Missense
SNP
0.420
2-ND
HEG1-
-
-
-
3GainND
HES1-
-
-
-
3GainND
HGD-
-
-
-
3GainND
HIC1p.S252F
Missense
SNP
0.521
2-ND
HIST1H3Bp.R135T
p.E74K
Missense
Missense
SNP
SNP
0.572
0.459
2-ND
HLTF-
-
-
-
3GainND
HMCES-
-
-
-
3GainND
HPS3-
-
-
-
3GainND
HRASLS-
-
-
-
3GainND
HRG-
-
-
-
3GainND
HSBP1-
-
-
-
3GainND
HSDL2p.M371I
Missense
SNP
0.453
2-ND
HSPA14-
-
-
-
1LossND
HSPBAP1-
-
-
-
3GainND
HTR3Cp.R24T
Missense
SNP
0.373
3GainND
HTR3D-
-
-
-
3GainND
HTR3E-
-
-
-
3GainND
HUNKp.S468*
Nonsense
SNP
0.527
2-ND
IDH3Bp.S36*
Nonsense
SNP
0.515
2-ND
IDI1-
-
-
-
1LossND
IDI2-
-
-
-
1LossND
IFT122-
-
-
-
3GainND
IFT80-
-
-
-
3GainND
IGDCC4p.S804C
Missense
SNP
0.421
2-ND
IGF2BP2-
-
-
-
3GainND
IGSF10-
-
-
-
3GainND
IGSF11-
-
-
-
3GainND
IL12A-
-
-
-
3GainND
IL15RA-
-
-
-
1LossND
IL1RAP-
-
-
-
3GainND
IL1RL1p.E146Q
Missense
SNP
0.500
2-ND
IL20RB-
-
-
-
3GainND
IL2RA-
-
-
-
1LossND
ILDR1-
-
-
-
3GainND
IMPG1p.R599P
Missense
SNP
0.519
2-ND
ING1-
-
-
-
3GainND
INPP5Ap.L110V
Missense
SNP
0.551
2-ND
IQCB1-
-
-
-
3GainND
IQCG-
-
-
-
3GainND
IQCJ-
-
-
-
3GainND
IQCJ-SCHIP1-
-
-
-
3GainND
IRS2-
-
-
-
3GainND
ISY1-
-
-
-
3GainND
ISY1-RAB43-
-
-
-
3GainND
ITGA8-
-
-
-
1LossND
ITGB1-
-
-
-
1LossND
ITGB5-
-
-
-
3GainND
ITIH2-
-
-
-
1LossND
ITIH5-
-
-
-
1LossND
ITM2Bp.R51K
Missense
SNP
0.481
2-ND
JCAD-
-
-
-
1LossND
KALRN-
-
-
-
3GainND
KBTBD12-
-
-
-
3GainND
KBTBD6p.Q400E
Missense
SNP
0.432
2-ND
KCNAB1-
-
-
-
3GainND
KCNMB2-
-
-
-
3GainND
KCNMB3-
-
-
-
3GainND
KDM6Ap.Q753*
Nonsense
SNP
0.908
NDNDND
KIAA1217-
-
-
-
1LossND
KIAA1257-
-
-
-
3GainND
KIF11p.S3W
Missense
SNP
0.513
2-ND
KIF17p.E321Q
Missense
SNP
0.466
2-ND
KIF5B-
-
-
-
1LossND
KIN-
-
-
-
1LossND
KLF15-
-
-
-
3GainND
KLF6-
-
-
-
1LossND
KLHL24-
-
-
-
3GainND
KLHL36p.E233Q
Missense
SNP
0.435
2-ND
KLHL6-
-
-
-
3GainND
KMT2Ap.R2641K
Missense
SNP
0.477
2-ND
KMT2C-
-
-
-
1LossND
KNG1-
-
-
-
3GainND
KPNA1-
-
-
-
3GainND
KPNA4-
-
-
-
3GainND
KY-
-
-
-
3GainND
L2HGDHp.E142Q
Missense
SNP
0.483
2-ND
LAMB4p.E570K
Missense
SNP
0.632
2-ND
LAMP1-
-
-
-
3GainND
LAMP3-
-
-
-
3GainND
LAMTOR4p.E121Q
Missense
SNP
0.469
2-ND
LARP4B-
-
-
-
1LossND
LARP6p.E485Q
Missense
SNP
0.493
2-ND
LEKR1-
-
-
-
3GainND
LIPH-
-
-
-
3GainND
LMBR1p.L358V
Missense
SNP
0.420
2-ND
LMLN-
-
-
-
3GainND
LPP-
-
-
-
3GainND
LRCH3-
-
-
-
3GainND
LRRC14B-
-
-
-
3GainND
LRRC15-
-
-
-
3GainND
LRRC31-
-
-
-
3GainND
LRRC34-
-
-
-
3GainND
LRRC58-
-
-
-
3GainND
LRRIQ4-
-
-
-
3GainND
LSAMP-
-
-
-
3GainND
LSG1-
-
-
-
3GainND
LSRp.S444F
p.R445W
Missense
Missense
SNP
SNP
0.455
0.430
2-ND
LXN-
-
-
-
3GainND
LYPD1-
-
-
-
1LossND
LYZL1-
-
-
-
1LossND
LYZL2-
-
-
-
1LossND
MAATS1-
-
-
-
3GainND
MAGEF1-
-
-
-
3GainND
MALRD1-
-
-
-
1LossND
MAP3K13-
-
-
-
3GainND
MAP3K8-
-
-
-
1LossND
MAP6D1-
-
-
-
3GainND
MASP1-
-
-
-
3GainND
MASTL-
-
-
-
1LossND
MB21D2-
-
-
-
3GainND
MBD4-
-
-
-
3GainND
MBNL1-
-
-
-
3GainND
MCCC1-
-
-
-
3GainND
MCF2L-
-
-
-
3GainND
MCF2L2-
-
-
-
3GainND
MCM10-
-
-
-
1LossND
MCM2-
-
-
-
3GainND
MECOM-
-
-
-
3GainND
MED12L-
-
-
-
3GainND
MED13p.D2008H
Missense
SNP
0.513
2-ND
MEIG1-
-
-
-
1LossND
MELTF-
-
-
-
3GainND
MFN1-
-
-
-
3GainND
MFSD1-
-
-
-
3GainND
MGAp.V2045I
p.R2173T
Missense
Missense
SNP
SNP
0.450
0.463
2-ND
MGAT3p.S78L
Missense
SNP
0.550
2-ND
MGLL-
-
-
-
3GainND
MINDY3-
-
-
-
1LossND
MINDY4B-
-
-
-
3GainND
MKX-
-
-
-
1LossND
MLF1-
-
-
-
3GainND
MLLT10-
-
-
-
1LossND
MLYCD-
-
-
-
3GainND
MME-
-
-
-
3GainND
MMRN1p.Q143E
Missense
SNP
0.492
2-ND
MPP7-
-
-
-
1LossND
MRAS-
-
-
-
3GainND
MRC1-
-
-
-
1LossND
MROH2Bp.S82C
Missense
SNP
0.388
2-ND
MRPL3-
-
-
-
3GainND
MRPL47-
-
-
-
3GainND
MRPS22-
-
-
-
3GainND
MSL2-
-
-
-
3GainND
MSRB2-
-
-
-
1LossND
MTPAP-
-
-
-
1LossND
MTX3p.R110K
Missense
SNP
0.483
2-ND
MUC13-
-
-
-
3GainND
MUC20p.S577Wfs*49
Frame_Shift_Del
DEL
0.509
3GainND
MUC4p.A3785V
Missense
SNP
0.500
3GainND
MYBPC1p.K376N
Missense
SNP
0.490
2-ND
MYCBP2p.G4092A
Missense
SNP
0.543
2-ND
MYH9p.E495K
Missense
SNP
0.464
2-ND
MYLK-
-
-
-
3GainND
MYNN-
-
-
-
3GainND
MYO3A-
-
-
-
1LossND
N4BP2L2p.S698L
Missense
SNP
0.469
2-ND
NAALADL2-
-
-
-
3GainND
NANOS1p.E178K
Missense
SNP
0.569
2-ND
NAXD-
-
-
-
3GainND
NCBP2-
-
-
-
3GainND
NCBP2-AS2-
-
-
-
3GainND
NCEH1-
-
-
-
3GainND
NCK1-
-
-
-
3GainND
NCKAP5-
-
-
-
1LossND
NCOA6p.S520L
Missense
SNP
0.509
2-ND
NDUFB4p.R57Q
Missense
SNP
0.284
3GainND
NDUFB5-
-
-
-
3GainND
NEBL-
-
-
-
1LossND
NEFHp.K947N
Missense
SNP
0.512
2-ND
NEK11-
-
-
-
3GainND
NET1-
-
-
-
1LossND
NFASCp.D1217H
Missense
SNP
0.458
2-ND
NFATC3p.H70Y
Missense
SNP
0.480
2-ND
NINp.L1906F
Missense
SNP
0.463
2-ND
NKD2-
-
-
-
3GainND
NLGN1-
-
-
-
3GainND
NLRC4p.R918K
Missense
SNP
0.479
2-ND
NLRP4p.S7C
Missense
SNP
0.674
2-ND
NMD3-
-
-
-
3GainND
NME9-
-
-
-
3GainND
NMNAT3-
-
-
-
3GainND
NMT2-
-
-
-
1LossND
NOL4Lp.S310F
Missense
SNP
0.356
2-ND
NPHP3-
-
-
-
3GainND
NPHP3-ACAD11-
-
-
-
3GainND
NR1I2-
-
-
-
3GainND
NRP1p.Q382*
Nonsense
SNP
0.942
1LossND
NRROS-
-
-
-
3GainND
NSUN6-
-
-
-
1LossND
NUDT16-
-
-
-
3GainND
NUDT5-
-
-
-
1LossND
OLAH-
-
-
-
1LossND
OLFM4p.L109V
Missense
SNP
0.493
2-ND
OPA1-
-
-
-
3GainND
OPTN-
-
-
-
1LossND
OR2L2p.S229C
Missense
SNP
0.437
2-ND
OR6M1p.E20D
Missense
SNP
0.411
2-ND
OSBPL11-
-
-
-
3GainND
OSTN-
-
-
-
3GainND
OTOL1-
-
-
-
3GainND
OTUD1-
-
-
-
1LossND
P2RY1-
-
-
-
3GainND
P2RY12-
-
-
-
3GainND
P2RY13-
-
-
-
3GainND
P2RY14-
-
-
-
3GainND
P3H2-
-
-
-
3GainND
PAK2-
-
-
-
3GainND
PAQR9-
-
-
-
3GainND
PARD3-
-
-
-
1LossND
PARL-
-
-
-
3GainND
PARP14-
-
-
-
3GainND
PARP15-
-
-
-
3GainND
PARP9-
-
-
-
3GainND
PCCB-
-
-
-
3GainND
PCID2-
-
-
-
3GainND
PCOLCE2-
-
-
-
3GainND
PCYT1A-
-
-
-
3GainND
PDCD10-
-
-
-
3GainND
PDE4Cp.Q98*
Nonsense
SNP
0.541
2-ND
PDIA5-
-
-
-
3GainND
PDSS1-
-
-
-
1LossND
PEAK1p.E34K
Missense
SNP
0.505
2-ND
PEX5L-
-
-
-
3GainND
PFKFB3-
-
-
-
1LossND
PFKP-
-
-
-
1LossND
PFN2-
-
-
-
3GainND
PHC3-
-
-
-
3GainND
PHYH-
-
-
-
1LossND
PIGX-
-
-
-
3GainND
PIGZ-
-
-
-
3GainND
PIK3CAp.E545K
Missense
SNP
0.631
3GainND
PIK3CB-
-
-
-
3GainND
PIK3R4-
-
-
-
3GainND
PIP4K2A-
-
-
-
1LossND
PITRM1-
-
-
-
1LossND
PLA1A-
-
-
-
3GainND
PLCH1-
-
-
-
3GainND
PLD1-
-
-
-
3GainND
PLEKHG4B-
-
-
-
3GainND
PLIN1p.E242K
Missense
SNP
0.587
2-ND
PLOD2-
-
-
-
3GainND
PLS1-
-
-
-
3GainND
PLSCR1-
-
-
-
3GainND
PLSCR2-
-
-
-
3GainND
PLSCR4-
-
-
-
3GainND
PLSCR5-
-
-
-
3GainND
PLXDC2-
-
-
-
1LossND
PLXNA1-
-
-
-
3GainND
PLXND1-
-
-
-
3GainND
PODXL2-
-
-
-
3GainND
POGLUT1-
-
-
-
3GainND
POLQ-
-
-
-
3GainND
POLR2H-
-
-
-
3GainND
POPDC2-
-
-
-
3GainND
PPM1L-
-
-
-
3GainND
PPP1R2-
-
-
-
3GainND
PPP2R3A-
-
-
-
3GainND
PPP4R2p.E379K
Missense
SNP
0.407
2-ND
PQLC2L-
-
-
-
3GainND
PRKCI-
-
-
-
3GainND
PRKCQ-
-
-
-
1LossND
PROSER2-
-
-
-
1LossND
PROZ-
-
-
-
3GainND
PRPF18-
-
-
-
1LossND
PRR23A-
-
-
-
3GainND
PRR23B-
-
-
-
3GainND
PRR23C-
-
-
-
3GainND
PRR26-
-
-
-
1LossND
PRTFDC1-
-
-
-
1LossND
PSMD2-
-
-
-
3GainND
PTCHD3-
-
-
-
1LossND
PTENp.M134I
p.S227F
Missense
Missense
SNP
SNP
0.438
0.349
2-ND
PTER-
-
-
-
1LossND
PTF1A-
-
-
-
1LossND
PTX3-
-
-
-
3GainND
PXYLP1-
-
-
-
3GainND
PYDC2-
-
-
-
3GainND
RAB12p.R214S
Missense
SNP
0.487
2-ND
RAB18-
-
-
-
1LossND
RAB20-
-
-
-
3GainND
RAB43-
-
-
-
3GainND
RAB6B-
-
-
-
3GainND
RAB7A-
-
-
-
3GainND
RABL3-
-
-
-
3GainND
RAP2B-
-
-
-
3GainND
RARRES1-
-
-
-
3GainND
RASA2-
-
-
-
3GainND
RASA3-
-
-
-
3GainND
RASL12p.E148K
Missense
SNP
0.469
2-ND
RBM17-
-
-
-
1LossND
RBP1-
-
-
-
3GainND
RBP2-
-
-
-
3GainND
RFC4-
-
-
-
3GainND
RHO-
-
-
-
3GainND
RHOBTB1p.R205*
Nonsense
SNP
0.395
2-ND
RNF13-
-
-
-
3GainND
RNF168-
-
-
-
3GainND
RNF7-
-
-
-
3GainND
ROPN1-
-
-
-
3GainND
ROPN1B-
-
-
-
3GainND
RP11-310K10.1p.E565K
Missense
SNP
0.530
NDNDND
RPA3p.D3N
Missense
SNP
0.527
2-ND
RPL22L1-
-
-
-
3GainND
RPL35A-
-
-
-
3GainND
RPL39L-
-
-
-
3GainND
RPN1-
-
-
-
3GainND
RPP38-
-
-
-
1LossND
RPS6KC1p.S188F
Missense
SNP
0.457
2-ND
RSRC1-
-
-
-
3GainND
RSU1-
-
-
-
1LossND
RTP1-
-
-
-
3GainND
RTP2-
-
-
-
3GainND
RTP4-
-
-
-
3GainND
RUBCN-
-
-
-
3GainND
RUNX1p.E456K
Missense
SNP
0.464
2-ND
RUVBL1-
-
-
-
3GainND
RYK-
-
-
-
3GainND
RYR2p.R1598K
p.E1815K
Missense
Missense
SNP
SNP
0.393
0.455
2-ND
SAMD7-
-
-
-
3GainND
SCHIP1-
-
-
-
3GainND
SCNN1Bp.E539Q
Missense
SNP
0.409
2-ND
SCX-
-
-
-
1LossND
SDHA-
-
-
-
3GainND
SEC22A-
-
-
-
3GainND
SEC61A1-
-
-
-
3GainND
SEC61A2-
-
-
-
1LossND
SEC62-
-
-
-
3GainND
SELENOT-
-
-
-
3GainND
SEMA5B-
-
-
-
3GainND
SENP2-
-
-
-
3GainND
SENP5-
-
-
-
3GainND
SEPHS1-
-
-
-
1LossND
SERP1-
-
-
-
3GainND
SERPINI1-
-
-
-
3GainND
SERPINI2-
-
-
-
3GainND
SFMBT2-
-
-
-
1LossND
SHOX2-
-
-
-
3GainND
SI-
-
-
-
3GainND
SIAH2-
-
-
-
3GainND
SKIDA1-
-
-
-
1LossND
SKIL-
-
-
-
3GainND
SLC12A7-
-
-
-
3GainND
SLC12A8-
-
-
-
3GainND
SLC15A2-
-
-
-
3GainND
SLC25A36-
-
-
-
3GainND
SLC26A11p.S467F
Missense
SNP
0.577
2-ND
SLC2A2-
-
-
-
3GainND
SLC33A1-
-
-
-
3GainND
SLC35B1p.S216L
Missense
SNP
0.500
2-ND
SLC35G2-
-
-
-
3GainND
SLC39A12-
-
-
-
1LossND
SLC41A3-
-
-
-
3GainND
SLC51A-
-
-
-
3GainND
SLC6A18-
-
-
-
3GainND
SLC6A19-
-
-
-
3GainND
SLC6A3-
-
-
-
3GainND
SLC7A14-
-
-
-
3GainND
SLC9A9-
-
-
-
3GainND
SLC9C2p.S307L
Missense
SNP
0.587
2-ND
SLCO2A1-
-
-
-
3GainND
SLITRK3-
-
-
-
3GainND
SMAD3p.S422F
Missense
SNP
0.389
2-ND
SMARCA5-
-
-
-
3GainND
SMC4-
-
-
-
3GainND
SMCO1-
-
-
-
3GainND
SMYD4p.G86E
Missense
SNP
0.533
2-ND
SNX4-
-
-
-
3GainND
SOGA1p.S1322L
Missense
SNP
0.549
2-ND
SOX1-
-
-
-
3GainND
SOX14-
-
-
-
3GainND
SOX2-
-
-
-
3GainND
SP100p.R182Q
Missense
SNP
0.457
2-ND
SPACA7-
-
-
-
3GainND
SPAG6-
-
-
-
1LossND
SPATA16-
-
-
-
3GainND
SPSB4-
-
-
-
3GainND
SPTBN2p.R2211G
Missense
SNP
0.506
2-ND
SPTSSB-
-
-
-
3GainND
SRPRB-
-
-
-
3GainND
SSR3-
-
-
-
3GainND
SST-
-
-
-
3GainND
ST6GAL1-
-
-
-
3GainND
ST8SIA6-
-
-
-
1LossND
STAG1-
-
-
-
3GainND
STAG2p.E583*
Nonsense
SNP
1.000
NDNDND
STAM-
-
-
-
1LossND
STXBP5L-
-
-
-
3GainND
SUCNR1-
-
-
-
3GainND
SUV39H2-
-
-
-
1LossND
SVEP1p.E3214Q
Missense
SNP
0.491
2-ND
SVIL-
-
-
-
1LossND
TAF3-
-
-
-
1LossND
TBC1D10Ap.E511K
Missense
SNP
0.461
2-ND
TBCCD1-
-
-
-
3GainND
TBL1XR1-
-
-
-
3GainND
TCEB3Bp.E461Q
Missense
SNP
0.420
NDNDND
TCTEX1D2-
-
-
-
3GainND
TECRLp.M329I
Missense
SNP
0.429
2-ND
TERT-
-
-
-
3GainND
TEX29-
-
-
-
3GainND
TF-
-
-
-
3GainND
TFDP1-
-
-
-
3GainND
TFDP2-
-
-
-
3GainND
TFRC-
-
-
-
3GainND
THNSL1-
-
-
-
1LossND
THPO-
-
-
-
3GainND
TIMMDC1-
-
-
-
3GainND
TIPARP-
-
-
-
3GainND
TLL1p.E496Q
Missense
SNP
0.421
2-ND
TM4SF1-
-
-
-
3GainND
TM4SF18-
-
-
-
3GainND
TM4SF19-
-
-
-
3GainND
TM4SF19-TCTEX1D2-
-
-
-
3GainND
TM4SF4-
-
-
-
3GainND
TMCC1-
-
-
-
3GainND
TMCO3-
-
-
-
3GainND
TMEM108-
-
-
-
3GainND
TMEM132Ap.Q877E
Missense
SNP
0.417
2-ND
TMEM132Ep.R548Q
Missense
SNP
0.351
2-ND
TMEM207-
-
-
-
3GainND
TMEM212-
-
-
-
3GainND
TMEM236-
-
-
-
1LossND
TMEM255B-
-
-
-
3GainND
TMEM39A-
-
-
-
3GainND
TMEM41A-
-
-
-
3GainND
TMEM44-
-
-
-
3GainND
TNFSF10-
-
-
-
3GainND
TNIK-
-
-
-
3GainND
TNK2-
-
-
-
3GainND
TOPBP1-
-
-
-
3GainND
TP63-
-
-
-
3GainND
TPPP-
-
-
-
3GainND
TPRA1p.S293F
Missense
SNP
0.214
3GainND
TPRG1-
-
-
-
3GainND
TRA2B-
-
-
-
3GainND
TRAF3IP1p.R182Q
Missense
SNP
0.495
2-ND
TRAPPC4p.E27K
Missense
SNP
0.429
2-ND
TRDMT1-
-
-
-
1LossND
TRH-
-
-
-
3GainND
TRIM42-
-
-
-
3GainND
TRIM59-
-
-
-
3GainND
TRIP13-
-
-
-
3GainND
TRPC1-
-
-
-
3GainND
TSC22D2-
-
-
-
3GainND
TTC14-
-
-
-
3GainND
TUBA1Bp.E433Q
Missense
SNP
0.467
2-ND
TUBAL3-
-
-
-
1LossND
TUBB8-
-
-
-
1LossND
TUBGCP3-
-
-
-
3GainND
TXNRD3-
-
-
-
3GainND
U2SURP-
-
-
-
3GainND
UBA5-
-
-
-
3GainND
UBXN7-
-
-
-
3GainND
UCMA-
-
-
-
1LossND
UCN3-
-
-
-
1LossND
UGT2A3p.R257Q
Missense
SNP
0.484
2-ND
UGT2B10p.W336*
Nonsense
SNP
0.613
2-ND
UMPS-
-
-
-
3GainND
UNC79p.E1282K
Missense
SNP
0.429
2-ND
UPF2-
-
-
-
1LossND
UPF3A-
-
-
-
3GainND
UPK1B-
-
-
-
3GainND
UROC1-
-
-
-
3GainND
USP13-
-
-
-
3GainND
USP15p.R710P
Missense
SNP
0.506
2-ND
USP6NL-
-
-
-
1LossND
UTS2B-
-
-
-
3GainND
VEPH1-
-
-
-
3GainND
VIM-
-
-
-
1LossND
VPS8-
-
-
-
3GainND
VWA5B2-
-
-
-
3GainND
WAC-
-
-
-
1LossND
WDR37-
-
-
-
1LossND
WDR49-
-
-
-
3GainND
WDR53-
-
-
-
3GainND
WDR5B-
-
-
-
3GainND
WWTR1-
-
-
-
3GainND
XRN1-
-
-
-
3GainND
XXYLT1-
-
-
-
3GainND
YEATS2-
-
-
-
3GainND
YME1L1-
-
-
-
1LossND
ZBBX-
-
-
-
3GainND
ZBTB25p.S126L
Missense
SNP
0.457
2-ND
ZBTB38-
-
-
-
3GainND
ZC3H4p.P1154T
Missense
SNP
0.466
2-ND
ZDHHC11-
-
-
-
3GainND
ZDHHC11B-
-
-
-
3GainND
ZDHHC19-
-
-
-
3GainND
ZEB1-
-
-
-
1LossND
ZFHX3p.S6L
Missense
SNP
0.522
2-ND
ZIC1-
-
-
-
3GainND
ZIC4-
-
-
-
3GainND
ZMAT3-
-
-
-
3GainND
ZMYND11-
-
-
-
1LossND
ZNF148-
-
-
-
3GainND
ZNF248-
-
-
-
1LossND
ZNF25-
-
-
-
1LossND
ZNF292p.H1927Y
Missense
SNP
0.474
2-ND
ZNF33A-
-
-
-
1LossND
ZNF37A-
-
-
-
1LossND
ZNF438-
-
-
-
1LossND
ZNF560p.R532C
p.Q304*
Missense
Nonsense
SNP
SNP
0.443
0.534
2-ND
ZNF639-
-
-
-
3GainND
ZXDC-
-
-
-
3GainND