PDMR-361931~004-R~JT2J24-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
ABCA13p.A4850T
Missense
SNP
0.490
2--
ABCB9-
-
-
-
3Gain-
ABCC12p.A616T
Missense
SNP
0.525
2--
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCE1p.L313Wfs*10
Frame_Shift_Del
DEL
0.106
2--
ABCG1p.R533H
Missense
SNP
0.498
2--
ABI3p.A82T
Missense
SNP
0.472
2--
AC002996.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC007000.3-
-
-
-
NDNDAC007000.3--CCDC146
AC008012.1-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC097104.1-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC137834.1-
-
-
-
3Gain-
ACAA1p.R102Q
Missense
SNP
0.478
2--
ACACBp.V1006I
Missense
SNP
0.374
3Gain-
ACAD10-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACRBPp.H321N
Missense
SNP
0.329
3Gain-
ACSM4-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTL8p.V157M
Missense
SNP
0.454
2--
ACTL9p.D136N
Missense
SNP
0.500
2--
ACTR6p.E186K
Missense
SNP
0.653
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.914
2--
ACVRL1-
-
-
-
3Gain-
ADAD2p.R204H
Missense
SNP
0.484
2--
ADAMTS16p.T746M
Missense
SNP
0.506
2--
ADAMTS20-
-
-
-
3Gain-
ADAMTS5p.R257W
p.R170C
Missense
Missense
SNP
SNP
0.070
0.513
2--
ADCK3p.R187H
Missense
SNP
0.565
NDND-
ADCY6-
-
-
-
3Gain-
ADD3p.K701Rfs*8
Frame_Shift_Del
DEL
0.417
2--
ADGBp.T73Qfs*23
Frame_Shift_Del
DEL
0.506
2--
ADGRD1-
-
-
-
3Gain-
ADIPOR2-
-
-
-
3Gain-
AEBP2-
-
-
-
3Gain-
AGAP2-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AKAP3-
-
-
-
3Gain-
AKAP9p.K39Rfs*17
Frame_Shift_Del
DEL
0.407
2--
AL021546.1-
-
-
-
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALKBH2-
-
-
-
3Gain-
ALOX12Bp.A504V
Missense
SNP
0.564
2--
ALX1-
-
-
-
3Gain-
AMDHD1-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
AMPD2p.A400T
Missense
SNP
0.542
2--
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANK1p.A461V
Missense
SNP
0.561
2--
ANKLE2-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD33-
-
-
-
3Gain-
ANKRD52-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
3Gain-
ANO6-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
AP5S1p.R140W
Missense
SNP
0.175
2--
APAF1-
-
-
-
3Gain-
APCp.I638Yfs*8
p.T1556Nfs*3
p.A928T
Frame_Shift_Del
Frame_Shift_Ins
Missense
DEL
INS
SNP
0.213
0.268
0.471
2--
APOBEC1-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
ARp.Q60L
Missense
SNP
0.129
NDND-
ARF3-
-
-
-
3Gain-
ARHGAP36p.R439C
Missense
SNP
0.475
NDND-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF15p.R456Vfs*21
Frame_Shift_Del
DEL
0.450
2--
ARHGEF25-
-
-
-
3Gain-
ARID1Ap.D1850Gfs*4
Frame_Shift_Ins
INS
0.249
2--
ARID2-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL14EPp.N89Ifs*4
Frame_Shift_Del
DEL
0.509
2--
ARL6IP4-
-
-
-
3Gain-
ARNTL2-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ART4-
-
-
-
3Gain-
ASB8-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASPGp.R182W
Missense
SNP
0.525
2--
ASXL3p.R989Q
Missense
SNP
0.469
2--
ATF1-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG9Ap.W158L
Missense
SNP
0.065
2--
ATN1-
-
-
-
3Gain-
ATP10Ap.V802M
Missense
SNP
0.479
2--
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2B2p.A543T
p.A318V
Missense
Missense
SNP
SNP
0.475
0.437
2--
ATP5F1B-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATXN2-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AXIN2p.T437M
Missense
SNP
0.472
2--
B3GALNT1p.K105Sfs*14
Frame_Shift_Del
DEL
0.465
2--
B3GLCTp.S80Afs*3
Frame_Shift_Del
DEL
0.442
2--
B3GNT4-
-
-
-
3Gain-
B3GNT9p.A282T
Missense
SNP
0.476
2--
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
BAHCC1p.H835Tfs*139
Frame_Shift_Del
DEL
0.094
2--
BARHL2p.P120Q
Missense
SNP
0.628
2--
BAZ2A-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BCL9Lp.P1198Lfs*5
Frame_Shift_Del
DEL
0.397
2--
BCORp.G400Afs*42
Frame_Shift_Del
DEL
0.499
NDND-
BEST3-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BMPR2p.N583Tfs*44
Frame_Shift_Del
DEL
0.426
2--
BORCS5-
-
-
-
3Gain-
BRAFp.V600E
Missense
SNP
0.568
2--
BRAP-
-
-
-
3Gain-
BRD1p.R880H
Missense
SNP
0.488
2--
BRI3BP-
-
-
-
3Gain-
BTBD11-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
C10orf71p.R157C
Missense
SNP
0.488
2--
C11orf88p.L23Ifs*16
Frame_Shift_Ins
INS
0.335
2--
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C15orf59p.N293Tfs*29
Frame_Shift_Del
DEL
0.500
NDND-
C16orf54p.P195L
Missense
SNP
0.434
2--
C16orf87p.A12T
Missense
SNP
0.447
2--
C1orf141p.P122Tfs*2
Frame_Shift_Ins
INS
0.329
2--
C1QL4-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C5orf45p.Q197R
Missense
SNP
0.500
NDND-
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.273
2--
CABP1-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CADPS2p.N468Ifs*7
Frame_Shift_Del
DEL
0.411
2--
CALCOCO1-
-
-
-
3Gain-
CAMKK2-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CANXp.F435Lfs*12
Frame_Shift_Del
DEL
0.466
2--
CAPRIN2p.T342Hfs*15
Frame_Shift_Del
DEL
0.729
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CBLBp.P668H
Missense
SNP
0.459
2--
CBX5-
-
-
-
3Gain-
CCDC146-
-
-
-
2-AC007000.3--CCDC146
CCDC184-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCND2-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCT2-
-
-
-
3Gain-
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD27-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD5Lp.A19V
Missense
SNP
0.549
2--
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CDC7p.N31Tfs*51
Frame_Shift_Del
DEL
0.364
2--
CDCA3-
-
-
-
3Gain-
CDH2p.A30T
Missense
SNP
0.469
2--
CDK17-
-
-
-
3Gain-
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK8p.G348S
Missense
SNP
0.610
2--
CDKN1B-
-
-
-
3Gain-
CELA1-
-
-
-
3Gain-
CEP152p.A387T
Missense
SNP
0.514
2--
CEP290-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEPT1p.A396V
Missense
SNP
0.563
2--
CERS5-
-
-
-
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHD5p.V213A
Missense
SNP
0.455
2--
CHD6p.R895C
Missense
SNP
0.550
2--
CHFR-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHST11-
-
-
-
3Gain-
CIT-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLOCKp.L123*
Frame_Shift_Del
DEL
0.476
2--
CLSTN3-
-
-
-
3Gain-
CMAS-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTN2p.G93Afs*6
Frame_Shift_Del
DEL
0.450
2--
CNTNAP1p.R1058H
Missense
SNP
0.574
2--
COILp.K196Rfs*13
Frame_Shift_Del
DEL
0.453
2--
COL11A2p.P345Lfs*79
Frame_Shift_Del
DEL
0.385
2--
COL12A1p.S661Ffs*13
Frame_Shift_Ins
INS
0.315
2--
COL2A1-
-
-
-
3Gain-
COL4A3p.P1466S
Missense
SNP
0.440
2--
COL5A2-
-
-
-
1Loss-
COLEC12p.K656Nfs*4
Frame_Shift_Del
DEL
0.422
2--
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
CPM-
-
-
-
3Gain-
CPNE8-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CR1p.A2252T
Missense
SNP
0.533
2--
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CREBBPp.I1084Nfs*3
Frame_Shift_Ins
INS
0.320
2--
CREBL2-
-
-
-
3Gain-
CRTC1p.E443Rfs*24
Frame_Shift_Ins
INS
0.066
2--
CRY1-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CSTF2Tp.R373H
Missense
SNP
0.080
2--
CTDSP2-
-
-
-
3Gain-
CUX1p.P442Sfs*16
Frame_Shift_Ins
INS
0.274
2--
CUX2-
-
-
-
3Gain-
CYB5R4p.E248Rfs*12
Frame_Shift_Del
DEL
0.591
2--
CYP27B1-
-
-
-
3Gain-
CYSLTR1p.A140Sfs*28
Frame_Shift_Ins
INS
0.327
NDND-
DAO-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DAZLp.S47I
Missense
SNP
0.084
2--
DBX1p.R175C
Missense
SNP
0.462
2--
DBX2-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCP1Ap.S296Afs*8
Frame_Shift_Del
DEL
0.470
2--
DCP1B-
-
-
-
3Gain-
DCTN2-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDN-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX17p.K121Sfs*4
Frame_Shift_Del
DEL
0.473
2--
DDX23-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX60p.L1133Yfs*4
Frame_Shift_Del
DEL
0.963
2--
DENND5B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DHH-
-
-
-
3Gain-
DHX37-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DLDp.V212Ffs*12
Frame_Shift_Del
DEL
0.516
2--
DLG5p.A1007V
Missense
SNP
0.505
2--
DMDp.L996I
Missense
SNP
0.423
NDND-
DNAH10-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNM1L-
-
-
-
3Gain-
DOCK8p.F1113Lfs*2
Frame_Shift_Del
DEL
0.405
2--
DPPA3-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DRAM1-
-
-
-
3Gain-
DSELp.S472R
Missense
SNP
0.545
2--
DSTp.K3804Nfs*2
Frame_Shift_Del
DEL
0.532
2--
DTX1-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.396
2--
DUSP16-
-
-
-
3Gain-
DUSP6-
-
-
-
3Gain-
DYNC2H1p.I399*
Frame_Shift_Del
DEL
0.417
2--
DYNLL1-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
ECEL1p.R332W
Missense
SNP
0.521
2--
EDA2Rp.G156W
Missense
SNP
0.509
NDND-
EDC4p.R67Q
Missense
SNP
0.492
2--
EEA1-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
3Gain-
EID3-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
ELK3-
-
-
-
3Gain-
EMB-
-
-
-
1Loss-
EMG1-
-
-
-
3Gain-
EML6p.R255*
Nonsense
SNP
0.556
2--
EMP1-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
EP400-
-
-
-
3Gain-
EPHA2p.P460Rfs*33
Frame_Shift_Del
DEL
0.413
2--
EPS8-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERGIC2-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EXO1p.D731Tfs*4
Frame_Shift_Del
DEL
0.434
2--
F13A1p.P290Hfs*72
Frame_Shift_Del
DEL
0.458
2--
FAHD2Bp.P281Qfs*26
Frame_Shift_Del
DEL
0.072
2--
FAIM2-
-
-
-
3Gain-
FAM110Bp.R204H
Missense
SNP
0.516
2--
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM19A2-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM71C-
-
-
-
3Gain-
FAM83Hp.E474K
Missense
SNP
0.401
2--
FAR2-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL18p.P578H
Missense
SNP
0.087
2--
FBXO21-
-
-
-
3Gain-
FBXW7p.R465C
Missense
SNP
0.503
2--
FBXW8-
-
-
-
3Gain-
FEM1Ap.R371C
Missense
SNP
0.055
2--
FERMT2p.D344N
Missense
SNP
0.484
2--
FGD4-
-
-
-
3Gain-
FGD6-
-
-
-
3Gain-
FGF13p.P23Lfs*19
Frame_Shift_Del
DEL
0.535
NDND-
FGF22p.P149A
Missense
SNP
0.081
2--
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FHOD3p.S336Vfs*171
Frame_Shift_Del
DEL
0.071
2--
FICD-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP3p.F145Lfs*18
Frame_Shift_Del
DEL
0.474
2--
FKBP4-
-
-
-
3Gain-
FLNCp.A337V
Missense
SNP
0.504
2--
FLT4p.Q423Rfs*70
Frame_Shift_Del
DEL
0.581
2--
FMN2p.Q212del
In_Frame_Del
DEL
0.360
2--
FMNL3-
-
-
-
3Gain-
FNDC1p.A653T
Missense
SNP
0.503
2--
FOSBp.V94I
Missense
SNP
0.495
2--
FOXG1p.T380M
Missense
SNP
0.491
2--
FOXJ2-
-
-
-
3Gain-
FOXM1p.E709Nfs*12
Frame_Shift_Del
DEL
0.605
3Gain-
FOXN4-
-
-
-
3Gain-
FRS2-
-
-
-
3Gain-
FSD2p.Q413H
Missense
SNP
0.487
2--
FUNDC2p.Y127H
Missense
SNP
0.430
NDND-
FZD10-
-
-
-
3Gain-
FZD4p.A13Rfs*48
Frame_Shift_Del
DEL
0.442
2--
G3BP2p.R132C
Missense
SNP
0.440
2--
GABARAPL1-
-
-
-
3Gain-
GABBR1p.P15Rfs*32
Frame_Shift_Del
DEL
0.513
2--
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GAPDH-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GBP5p.Q551P
Missense
SNP
0.159
2--
GCLMp.A239V
Missense
SNP
0.076
2--
GCN1-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GIT2-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNPTAB-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLPH3Lp.R10H
Missense
SNP
0.407
2--
GOLT1B-
-
-
-
3Gain-
GPBAR1p.R43C
Missense
SNP
0.527
2--
GPC5p.R347H
Missense
SNP
0.485
2--
GPD1-
-
-
-
3Gain-
GPLD1p.V399M
Missense
SNP
0.093
2--
GPN3-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR19p.N370Tfs*59
Frame_Shift_Del
DEL
0.357
3Gain-
GPR84-
-
-
-
3Gain-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRB14p.K297Nfs*23
Frame_Shift_Del
DEL
0.495
2--
GRIN2B-
-
-
-
3Gain-
GRIN3Ap.R137H
Missense
SNP
0.557
2--
GRIP1-
-
-
-
3Gain-
GRM7p.W590Gfs*3
Frame_Shift_Del
DEL
0.420
2--
GSG1-
-
-
-
3Gain-
GSG2p.S366L
Missense
SNP
0.627
NDND-
GTF2H3-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GUCY2C-
-
-
-
3Gain-
GUK1p.E96K
Missense
SNP
0.087
2--
GXYLT1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC1R1p.M84*
Frame_Shift_Del
DEL
0.506
2--
HCFC2-
-
-
-
3Gain-
HDAC6p.G751Afs*16
Frame_Shift_Del
DEL
0.437
NDND-
HDAC7-
-
-
-
3Gain-
HEBP1-
-
-
-
3Gain-
HECAp.G335Dfs*27
Frame_Shift_Del
DEL
0.096
2--
HECTD1p.R1323H
Missense
SNP
0.471
2--
HECTD4-
-
-
-
3Gain-
HECW2p.D49N
Missense
SNP
0.479
2--
HELB-
-
-
-
3Gain-
HEMK1p.G169R
Missense
SNP
0.533
2--
HERC5p.A879V
Missense
SNP
0.464
2--
HIGD1C-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIST1H2BKp.P9T
Missense
SNP
0.096
2--
HIST4H4-
-
-
-
3Gain-
HIVEP2p.P2241L
Missense
SNP
0.529
2--
HLA-Bp.G124D
Missense
SNP
0.537
2--
HMGA2-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNRNPA1-
-
-
-
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HOXD13p.P103Qfs*163
Frame_Shift_Del
DEL
0.086
2--
HPD-
-
-
-
3Gain-
HS3ST3A1p.V38I
Missense
SNP
0.527
2--
HSD17B6-
-
-
-
3Gain-
HSP90B1-
-
-
-
3Gain-
HSPB8-
-
-
-
3Gain-
HTR5Ap.R262L
Missense
SNP
0.462
2--
HUWE1p.R3971W
p.A3801V
Missense
Missense
SNP
SNP
0.567
0.530
NDND-
HVCN1-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFIH1p.A589Lfs*16
Frame_Shift_Del
DEL
0.341
2--
IFNG-
-
-
-
3Gain-
IFRD1p.Y306Mfs*7
Frame_Shift_Del
DEL
0.140
2--
IFT81-
-
-
-
3Gain-
IGDCC4p.S553Afs*2
Frame_Shift_Del
DEL
0.364
2--
IGF1-
-
-
-
3Gain-
IGFBP6-
-
-
-
3Gain-
IKBIP-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INO80Dp.R553C
Missense
SNP
0.437
2--
INPP5Kp.G316D
Missense
SNP
0.134
2--
INTS1p.A1379T
Missense
SNP
0.486
2--
INTS13-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRX4p.A93V
Missense
SNP
0.504
2--
ISCU-
-
-
-
3Gain-
ITFG2-
-
-
-
3Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
ITSN1p.K1075Nfs*26
Frame_Shift_Del
DEL
0.475
2--
JAKMIP1p.T512M
Missense
SNP
0.377
2--
JMJD4p.P259Qfs*18
Frame_Shift_Del
DEL
0.087
2--
KANSL2-
-
-
-
3Gain-
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNB2p.E146Nfs*3
Frame_Shift_Del
DEL
0.526
2--
KCNC2-
-
-
-
3Gain-
KCNC3p.G627Efs*27
p.P581Rfs*27
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.071
0.294
2--
KCNH3-
-
-
-
3Gain-
KCNJ12p.K366T
Missense
SNP
0.162
2--
KCNJ8-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCTD10-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KIAA1462p.A266T
Missense
SNP
0.484
NDND-
KIAA1551-
-
-
-
3Gain-
KIF21A-
-
-
-
3Gain-
KIF5A-
-
-
-
3Gain-
KIF6p.L204*
Frame_Shift_Del
DEL
0.400
2--
KITLG-
-
-
-
3Gain-
KLC1p.K156Nfs*65
Frame_Shift_Del
DEL
0.455
2--
KLHL34p.R288Afs*7
Frame_Shift_Del
DEL
0.502
NDND-
KLHL42-
-
-
-
3Gain-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2Dp.L4921Wfs*74
Frame_Shift_Del
DEL
0.223
3Gain-
KMT5A-
-
-
-
3Gain-
KNDC1p.A173V
Missense
SNP
0.476
2--
KNTC1-
-
-
-
3Gain-
KPNA7p.A321T
Missense
SNP
0.472
2--
KRAS-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KSR2-
-
-
-
3Gain-
LACRT-
-
-
-
3Gain-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LARP4-
-
-
-
3Gain-
LBX1p.P239Qfs*56
Frame_Shift_Del
DEL
0.510
2--
LDHB-
-
-
-
3Gain-
LEMD3-
-
-
-
3Gain-
LETMD1-
-
-
-
3Gain-
LGR5-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LIMA1-
-
-
-
3Gain-
LIN7A-
-
-
-
3Gain-
LINGO1p.R338C
Missense
SNP
0.404
2--
LLPH-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LRCOL1-
-
-
-
3Gain-
LRFN5p.T584M
Missense
SNP
0.463
2--
LRIG3-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP2p.S450Ffs*3
Frame_Shift_Ins
INS
0.241
2--
LRP6-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC8Dp.A121T
Missense
SNP
0.492
2--
LRRIQ1p.R359M
Missense
SNP
0.548
3Gain-
LRRK2p.T2141M
Missense
SNP
0.299
3Gain-
LRRTM4p.G562S
Missense
SNP
0.494
2--
LRTM2-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTBP2p.R15W
Missense
SNP
0.470
2--
LTBR-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LYSTp.L1289F
Missense
SNP
0.462
2--
LYZ-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAB21L1p.A235V
Missense
SNP
0.070
2--
MAGEC2p.A165V
Missense
SNP
0.094
NDND-
MAGOHB-
-
-
-
3Gain-
MAMDC4p.R369Gfs*174
Frame_Shift_Del
DEL
0.324
2--
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
3Gain-
MAP2K5p.I155Yfs*2
Frame_Shift_Del
DEL
0.098
2--
MAP3K12-
-
-
-
3Gain-
MAP3K6p.V171I
Missense
SNP
0.490
2--
MAPKAPK5-
-
-
-
3Gain-
MARCH9-
-
-
-
3Gain-
MARS-
-
-
-
3Gain-
MBD3p.E275K
Missense
SNP
0.538
2--
MBD6-
-
-
-
3Gain-
MCM6p.A502T
Missense
SNP
0.535
2--
MCRS1-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED23p.R872C
Missense
SNP
0.147
2--
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFSD5-
-
-
-
3Gain-
MGAT4Cp.R303H
Missense
SNP
0.671
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MICAL3p.R1499Gfs*106
Frame_Shift_Del
DEL
0.450
2--
MIP-
-
-
-
3Gain-
MIS18BP1p.N380Ifs*3
Frame_Shift_Del
DEL
0.471
2--
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
3Gain-
MROH2Bp.R453M
Missense
SNP
0.429
2--
MRPL42-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTPAPp.A219D
Missense
SNP
0.303
2--
MTSS1Lp.G560Afs*34
Frame_Shift_Del
DEL
0.464
2--
MUC16p.S7713Lfs*5
Frame_Shift_Del
DEL
0.460
2--
MUC19-
-
-
-
3Gain-
MUC4p.P2768S
Missense
SNP
0.128
2--
MUCL1-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MYBPC1-
-
-
-
3Gain-
MYCBPAPp.R725W
Missense
SNP
0.514
2--
MYCT1p.F29Sfs*28
Frame_Shift_Del
DEL
0.509
2--
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYO1A-
-
-
-
3Gain-
MYO1H-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAV3-
-
-
-
3Gain-
NCAPD2-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCOA3p.R218C
Missense
SNP
0.472
2--
NCOR2-
-
-
-
3Gain-
NDNp.A209T
Missense
SNP
0.085
2--
NDST1p.R875Q
Missense
SNP
0.460
2--
NDUFA12-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NECAP1-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NELL2-
-
-
-
3Gain-
NEMP1-
-
-
-
3Gain-
NEUROD4-
-
-
-
3Gain-
NFATC4p.P88Rfs*69
Frame_Shift_Del
DEL
0.457
2--
NFE2-
-
-
-
3Gain-
NFX1p.S95L
Missense
SNP
0.067
2--
NFYB-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NIPBLp.K603Sfs*11
Frame_Shift_Del
DEL
0.385
2--
NLRP11p.R122C
Missense
SNP
0.461
2--
NOC4L-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOS1p.G676Afs*64
p.P272T
Frame_Shift_Del
Missense
DEL
SNP
0.331
0.559
3Gain-
NPFF-
-
-
-
3Gain-
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2F2p.A304V
Missense
SNP
0.501
2--
NR4A1-
-
-
-
3Gain-
NRAPp.Y1041H
Missense
SNP
0.463
2--
NRIP2-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTRK3p.T283M
Missense
SNP
0.444
2--
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP37-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OBSCNp.R8923C
Missense
SNP
0.421
2--
OGFOD2-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR1C1p.A47V
Missense
SNP
0.503
2--
OR2AP1-
-
-
-
3Gain-
OR4D5p.R233H
Missense
SNP
0.550
2--
OR51E1p.A156Lfs*3
Frame_Shift_Del
DEL
0.054
2--
OR52K1p.R153Q
Missense
SNP
0.480
2--
OR5BS1P-
-
-
-
3Gain-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75p.L200*
Frame_Shift_Del
DEL
0.549
3Gain-
OR6C76-
-
-
-
3Gain-
OR8S1-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OTOGL-
-
-
-
3Gain-
OVCH1-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAN2-
-
-
-
3Gain-
PAQR5p.R29H
Missense
SNP
0.519
2--
PARP11-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PARPBP-
-
-
-
3Gain-
PAWR-
-
-
-
3Gain-
PAX6p.P389Hfs*7
Frame_Shift_Del
DEL
0.416
2--
PCBP2-
-
-
-
3Gain-
PCDHA7p.A562T
Missense
SNP
0.491
2--
PCDHB3p.A719V
Missense
SNP
0.667
2--
PCDHGA1p.A696V
Missense
SNP
0.544
2--
PCED1B-
-
-
-
3Gain-
PCMTD1p.R162Q
Missense
SNP
0.442
2--
PDE1B-
-
-
-
3Gain-
PDE3A-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDPRp.R427H
Missense
SNP
0.192
2--
PDZRN4-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PEX5-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFN3p.G68Afs*43
Frame_Shift_Del
DEL
0.453
2--
PGAM5-
-
-
-
3Gain-
PHACTR4p.K61E
Missense
SNP
0.682
2--
PHAXp.M185Nfs*32
Frame_Shift_Ins
INS
0.313
2--
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHLDA1-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIEZO2p.Q1534Afs*8
Frame_Shift_Ins
INS
0.083
2--
PIK3C2G-
-
-
-
3Gain-
PIK3CAp.H1047R
Missense
SNP
0.477
2--
PIK3R3p.M295*
Frame_Shift_Del
DEL
0.483
2--
PIP4K2C-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PIWIL1-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLEKHN1p.R269H
Missense
SNP
0.556
2--
PLXNB1p.G179Vfs*41
Frame_Shift_Del
DEL
0.494
2--
PLXNC1-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
POC1B-
-
-
-
3GainPOC1B--UBC
POC1B-GALNT4-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLR2Ap.Q529Rfs*32
Frame_Shift_Del
DEL
0.476
2--
POLR3B-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POU2F2p.P148H
Missense
SNP
0.434
2--
POU3F2p.S429Vfs*60
Frame_Shift_Del
DEL
0.467
2--
POU6F1-
-
-
-
3Gain-
PPFIA2p.A915V
Missense
SNP
0.310
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R3Fp.R562C
Missense
SNP
0.528
NDND-
PPP2R1Ap.R459C
Missense
SNP
0.401
2--
PPRC1p.P1461Hfs*79
Frame_Shift_Del
DEL
0.443
2--
PPTC7-
-
-
-
3Gain-
PRAMEF12p.A223T
Missense
SNP
0.539
2--
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM16p.S466Afs*3
Frame_Shift_Del
DEL
0.100
2--
PRDM4-
-
-
-
3Gain-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRICKLE2p.M590T
Missense
SNP
0.448
2--
PRIM1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRLHp.R69*
Nonsense
SNP
0.548
2--
PRMT8-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPH-
-
-
-
3Gain-
PRR13-
-
-
-
3Gain-
PRR32p.S14L
Missense
SNP
0.509
NDND-
PRR4-
-
-
-
3Gain-
PRSS45p.T31I
Missense
SNP
0.491
2--
PSMD9-
-
-
-
3Gain-
PTGES3-
-
-
-
3Gain-
PTHLH-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTX4p.V397M
Missense
SNP
0.055
2--
PUS1-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PWWP2Ap.K334Rfs*25
Frame_Shift_Del
DEL
0.100
2--
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
R3HDM2-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RABL6p.A307T
Missense
SNP
0.599
2--
RACGAP1-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RAP1B-
-
-
-
3Gain-
RAPGEF3-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.477
2--
RBMS2-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
REEP1p.A171T
Missense
SNP
0.461
2--
REP15-
-
-
-
3Gain-
REREp.G92S
Missense
SNP
0.432
2--
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFX4-
-
-
-
3Gain-
RGS12p.K1178Nfs*32
Frame_Shift_Del
DEL
0.506
2--
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOBTB3p.M230Nfs*7
Frame_Shift_Ins
INS
0.304
2--
RHOF-
-
-
-
3Gain-
RIC8B-
-
-
-
3Gain-
RIDAp.K117N
Missense
SNP
0.633
2--
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RITA1-
-
-
-
3Gain-
RMDN3p.T386Lfs*22
Frame_Shift_Del
DEL
0.430
2--
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF151p.R131W
Missense
SNP
0.478
2--
RNF19Ap.R63Efs*5
Frame_Shift_Del
DEL
0.271
2--
RNF213p.A3115T
Missense
SNP
0.491
2--
RNF34-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNPC3-
-
-
-
1Loss-
ROCK1p.K1307Nfs*3
Frame_Shift_Del
DEL
0.817
2--
RP1p.P1282Lfs*12
Frame_Shift_Del
DEL
0.433
2--
RP11-849H4.2p.T124M
Missense
SNP
0.207
NDND-
RPAP3-
-
-
-
3Gain-
RPGRp.E1051Kfs*38
Frame_Shift_Del
DEL
0.376
NDND-
RPH3A-
-
-
-
3Gain-
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.509
2--
RPL24p.R157H
Missense
SNP
0.621
2--
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RWDD4p.F68Lfs*9
Frame_Shift_Del
DEL
0.606
2--
RXYLT1-
-
-
-
3Gain-
RYR2p.G4401E
Missense
SNP
0.561
2--
SARNP-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SCAF11-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCN2Ap.T90M
Missense
SNP
0.438
2--
SCN8A-
-
-
-
3Gain-
SCN9Ap.E433Sfs*36
Frame_Shift_Del
DEL
0.432
2--
SCNN1A-
-
-
-
3Gain-
SCUBE2p.A197T
Missense
SNP
0.521
2--
SCYL2-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC16Ap.G1417Afs*47
Frame_Shift_Del
DEL
0.500
2--
SEC31Ap.I462Lfs*16
Frame_Shift_Del
DEL
0.457
2--
SECISBP2p.T153Rfs*20
Frame_Shift_Del
DEL
0.491
2--
SELPLG-
-
-
-
3Gain-
SENP1-
-
-
-
3Gain-
SETD1B-
-
-
-
3Gain-
SETD5p.R618Q
Missense
SNP
0.494
2--
SFSWAP-
-
-
-
3Gain-
SGK2p.A119V
Missense
SNP
0.541
2--
SH2B3-
-
-
-
3Gain-
SHANK3p.A1226Pfs*57
Frame_Shift_Del
DEL
0.301
2--
SHMT2-
-
-
-
3Gain-
SINHCAF-
-
-
-
3Gain-
SIPA1L3p.L1294Wfs*199
Frame_Shift_Del
DEL
0.445
2--
SIRT4-
-
-
-
3Gain-
SLC11A2-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A7-
-
-
-
3Gain-
SLC17A8-
-
-
-
3Gain-
SLC19A3p.A288T
Missense
SNP
0.077
2--
SLC1A7p.Q188K
Missense
SNP
0.507
2--
SLC25A22p.G155Vfs*19
Frame_Shift_Del
DEL
0.432
2--
SLC25A3-
-
-
-
3Gain-
SLC26A10-
-
-
-
3Gain-
SLC26A7p.K333Nfs*20
Frame_Shift_Del
DEL
0.335
2--
SLC2A13p.G592D
Missense
SNP
0.091
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A2p.R365L
Missense
SNP
0.424
2--
SLC2A3-
-
-
-
3Gain-
SLC32A1p.A29T
Missense
SNP
0.188
2--
SLC35E3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC41A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A8-
-
-
-
3Gain-
SLC5A8-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A7p.Q278Sfs*82
Frame_Shift_Del
DEL
0.428
2--
SLC7A13p.S126Afs*20
Frame_Shift_Del
DEL
0.401
2--
SLC8B1-
-
-
-
3Gain-
SLC9A8p.F182C
Missense
SNP
0.515
2--
SLC9C2p.R203W
Missense
SNP
0.571
2--
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SMAD2p.R114C
Missense
SNP
0.577
2--
SMAGP-
-
-
-
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SP8p.R445C
Missense
SNP
0.398
2--
SPATS2-
-
-
-
3Gain-
SPERTp.V98M
Missense
SNP
0.491
2--
SPIC-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTBN1p.R523Q
Missense
SNP
0.478
2--
SPX-
-
-
-
3Gain-
SRCAPp.P1878Hfs*89
Frame_Shift_Del
DEL
0.387
2--
SRGAP1-
-
-
-
3Gain-
SRGAP2p.A1019T
Missense
SNP
0.519
2--
SRRM4-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
ST18p.N621Ifs*10
Frame_Shift_Del
DEL
0.461
2--
ST8SIA1-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STK38L-
-
-
-
3Gain-
STRAP-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SVOP-
-
-
-
3Gain-
SYCE2p.W172*
Nonsense
SNP
0.541
2--
SYCP3-
-
-
-
3Gain-
SYNE1p.A5404V
Missense
SNP
0.593
2--
SYNMp.D843N
Missense
SNP
0.522
2--
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TACR1p.A115T
Missense
SNP
0.500
2--
TAF1Cp.Q534Sfs*28
Frame_Shift_Del
DEL
0.123
2--
TAOK3-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R30p.A23V
Missense
SNP
0.449
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R43-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TBATAp.A194T
Missense
SNP
0.467
2--
TBC1D15-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBL1XR1p.W177R
Missense
SNP
0.347
2--
TBX3-
-
-
-
3Gain-
TBX5-
-
-
-
3Gain-
TCHHL1p.N56K
Missense
SNP
0.528
2--
TCHP-
-
-
-
3Gain-
TCP10Lp.G214Vfs*26
Frame_Shift_Del
DEL
0.523
2--
TCP11L2-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TEAD4-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TEX9p.R298H
Missense
SNP
0.535
2--
TFCP2-
-
-
-
3Gain-
TGFB1I1p.T62M
Missense
SNP
0.447
2--
TGFBR2p.E239*
Nonsense
SNP
0.509
2--
TGM3p.A468T
Missense
SNP
0.112
2--
THAP1p.D192G
Missense
SNP
0.472
2--
THAP2-
-
-
-
3Gain-
TIGAR-
-
-
-
3Gain-
TIMD4p.A320T
Missense
SNP
0.669
2--
TIMELESS-
-
-
-
3Gain-
TIMM50p.R217Q
Missense
SNP
0.426
2--
TLR9p.A164T
Missense
SNP
0.517
2--
TM7SF3-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMC1p.V537I
Missense
SNP
0.458
2--
TMCC3-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM161Bp.R354*
Nonsense
SNP
0.468
2--
TMEM19-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM25p.A219V
Missense
SNP
0.574
2--
TMEM263-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMOD1p.N309Tfs*24
Frame_Shift_Del
DEL
0.475
2--
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
3Gain-
TNIP2p.D4Tfs*60
Frame_Shift_Del
DEL
0.412
2--
TNK2p.P839Rfs*72
Frame_Shift_Del
DEL
0.355
2--
TNS2-
-
-
-
3Gain-
TP53BP2p.V206L
Missense
SNP
0.535
2--
TPCN1-
-
-
-
3Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TRAF7p.R316C
Missense
SNP
0.516
2--
TRAFD1-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIM56p.Q373E
Missense
SNP
0.411
2--
TROAP-
-
-
-
3Gain-
TRPM2p.A177Pfs*6
Frame_Shift_Del
DEL
0.473
2--
TRPM5p.Q762Rfs*35
Frame_Shift_Del
DEL
0.467
2--
TRPM8p.R223W
Missense
SNP
0.505
2--
TRPV4-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSPAN11-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TTBK1p.R1163H
Missense
SNP
0.102
2--
TTC39Cp.H227Tfs*31
Frame_Shift_Del
DEL
0.459
2--
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TWIST1p.R74C
Missense
SNP
0.500
2--
TXNRD1-
-
-
-
3Gain-
UBC-
-
-
-
3GainPOC1B--UBC
UBE2N-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UFL1p.R660Gfs*17
Frame_Shift_Del
DEL
0.511
2--
UHRF1BP1L-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
URGCPp.V672I
Missense
SNP
0.535
2--
USF2p.A50V
Missense
SNP
0.437
2--
USP15-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
USP9Xp.L28Sfs*51
Frame_Shift_Del
DEL
0.487
NDND-
UTP20-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VANGL2p.V477I
Missense
SNP
0.534
2--
VDR-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VSIG10-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WDR66p.E1009K
Missense
SNP
0.270
3Gain-
WDR74p.A4D
Missense
SNP
0.491
2--
WDR91p.Q401H
Missense
SNP
0.429
2--
WHSC1L1p.T419Pfs*8
Frame_Shift_Del
DEL
0.497
NDND-
WIF1-
-
-
-
3Gain-
WNK1-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT5B-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
WWC2p.M206Nfs*9
Frame_Shift_Ins
INS
0.309
2--
XPOT-
-
-
-
3Gain-
XXYLT1p.Q213E
Missense
SNP
0.456
2--
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
ZBTB18p.R482C
Missense
SNP
0.570
2--
ZBTB39-
-
-
-
3Gain-
ZC3H10-
-
-
-
3Gain-
ZC3H13p.R1007Tfs*2
Frame_Shift_Ins
INS
0.294
2--
ZC3H3p.A786Gfs*146
Frame_Shift_Ins
INS
0.298
2--
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZDHHC17-
-
-
-
3Gain-
ZDHHC8p.T459Rfs*177
Frame_Shift_Del
DEL
0.085
2--
ZFC3H1-
-
-
-
3Gain-
ZFP36L1p.S294Afs*13
Frame_Shift_Del
DEL
0.500
2--
ZFR2p.P188Rfs*239
Frame_Shift_Del
DEL
0.446
2--
ZNF10-
-
-
-
3Gain-
ZNF124p.T339Lfs*31
Frame_Shift_Del
DEL
0.400
2--
ZNF140-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF276p.G450D
Missense
SNP
0.419
2--
ZNF292p.F1168Lfs*29
Frame_Shift_Del
DEL
0.482
2--
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF514p.T399Pfs*21
Frame_Shift_Del
DEL
0.509
2--
ZNF605-
-
-
-
3Gain-
ZNF609p.K734Rfs*12
Frame_Shift_Del
DEL
0.388
2--
ZNF641-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF726p.N439T
Missense
SNP
0.567
2--
ZNF74p.R631Efs*84
Frame_Shift_Del
DEL
0.474
2--
ZNF740-
-
-
-
3Gain-
ZNF835p.P109Q
Missense
SNP
0.496
2--
ZNF84-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-