PDMR-997537~175-T~HP1G72-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3GainND
A2ML1-
-
-
-
3GainND
AAAS-
-
-
-
3GainND
AACS-
-
-
-
3GainND
AARD-
-
-
-
5AmpND
ABCB9-
-
-
-
3GainND
ABCC12p.R615H
Missense
SNP
0.481
2-ND
ABCC9-
-
-
-
3GainND
ABCD2-
-
-
-
3GainND
ABRA-
-
-
-
5AmpND
ABTB1p.R190H
Missense
SNP
0.484
2-ND
ABTB2p.S762L
Missense
SNP
0.511
2-ND
AC002996.1-
-
-
-
3GainND
AC005832.4-
-
-
-
3GainND
AC005833.1-
-
-
-
3GainND
AC006064.6-
-
-
-
3GainND
AC006518.7-
-
-
-
3GainND
AC008012.1-
-
-
-
3GainND
AC009879.2-
-
-
-
5AmpND
AC009879.3-
-
-
-
5AmpND
AC010197.2-
-
-
-
3GainND
AC011604.2-
-
-
-
3GainND
AC012213.5-
-
-
-
5AmpND
AC012531.2-
-
-
-
3GainND
AC022335.1-
-
-
-
3GainND
AC022826.2-
-
-
-
5AmpND
AC023055.1-
-
-
-
3GainND
AC023509.3-
-
-
-
3GainND
AC025165.3-
-
-
-
3GainND
AC025263.2-
-
-
-
3GainND
AC034102.2-
-
-
-
3GainND
AC036214.3-
-
-
-
5AmpND
AC048338.1-
-
-
-
3GainND
AC068775.1-
-
-
-
3GainND
AC069503.2-
-
-
-
3GainND
AC073610.2-
-
-
-
3GainND
AC073610.3-
-
-
-
3GainND
AC073612.1-
-
-
-
3GainND
AC073896.1-
-
-
-
3GainND
AC078927.1-
-
-
-
3GainND
AC092111.3-
-
-
-
3GainND
AC097104.1-
-
-
-
3GainND
AC100868.1-
-
-
-
4GainND
AC115220.1-
-
-
-
1LossND
AC117378.1-
-
-
-
3GainND
AC134980.3-
-
-
-
1LossND
AC135068.1-
-
-
-
1LossND
AC135068.3-
-
-
-
1LossND
AC137834.1-
-
-
-
3GainND
AC138647.1-
-
-
-
4GainND
AC138696.1-
-
-
-
4GainND
ACACB-
-
-
-
3GainND
ACAD10-
-
-
-
3GainND
ACADS-
-
-
-
3GainND
ACOT7p.R364W
Missense
SNP
0.552
2-ND
ACRBP-
-
-
-
3GainND
ACSM4-
-
-
-
3GainND
ACSS3-
-
-
-
3GainND
ACTL9p.T198M
Missense
SNP
0.557
2-ND
ACTR1Ap.E212*
Nonsense
SNP
0.435
2-ND
ACTR6-
-
-
-
3GainND
ACVR1B-
-
-
-
3GainND
ACVRL1-
-
-
-
3GainND
ADAMTS12p.A1366T
Missense
SNP
0.495
2-ND
ADAMTS20-
-
-
-
3GainND
ADCK5-
-
-
-
4GainND
ADCY6-
-
-
-
3GainND
ADCY8-
-
-
-
4GainND
ADGRB1-
-
-
-
4GainND
ADGRD1-
-
-
-
3GainND
ADGRE2p.R239H
Missense
SNP
0.249
2-ND
ADGRL3p.P393H
Missense
SNP
0.483
2-ND
ADHFE1-
-
-
-
5AmpND
ADIPOR2-
-
-
-
3GainND
ADPRHL1p.G186R
Missense
SNP
0.477
2-ND
AEBP2-
-
-
-
3GainND
AFAP1L2p.R769H
Missense
SNP
0.519
2-ND
AGAP2-
-
-
-
3GainND
AGO2-
-
-
-
4GainND
AICDA-
-
-
-
3GainND
AKAP11p.D1295E
Missense
SNP
0.486
2-ND
AKAP3-
-
-
-
3GainND
AL021546.1-
-
-
-
3GainND
AL445238.1-
-
-
-
3GainND
AL445989.1-
-
-
-
3GainND
ALDH1L2-
-
-
-
3GainND
ALDH2-
-
-
-
3GainND
ALG10-
-
-
-
3GainND
ALG10B-
-
-
-
3GainND
ALKAL1-
-
-
-
5AmpND
ALKBH2-
-
-
-
3GainND
ALX1-
-
-
-
3GainND
AMDHD1-
-
-
-
3GainND
AMHR2-
-
-
-
3GainND
AMIGO2-
-
-
-
3GainND
AMN1-
-
-
-
3GainND
AMY1Cp.A322T
Missense
SNP
0.214
NDNDND
ANAPC5-
-
-
-
3GainND
ANAPC7-
-
-
-
3GainND
ANGPT1-
-
-
-
5AmpND
ANKEF1p.E734D
Missense
SNP
0.471
2-ND
ANKLE2-
-
-
-
3GainND
ANKRD13A-
-
-
-
3GainND
ANKRD33-
-
-
-
3GainND
ANKRD46-
-
-
-
5AmpND
ANKRD52-
-
-
-
3GainND
ANKS1B-
-
-
-
3GainND
ANKS3p.R270Q
Missense
SNP
0.623
2-ND
ANO2-
-
-
-
3GainND
ANO4-
-
-
-
3GainND
ANO6-
-
-
-
3GainND
ANP32D-
-
-
-
3GainND
ANXA11-
-
-
-
1LossND
ANXA13-
-
-
-
4GainND
AP2A2p.R608W
Missense
SNP
0.479
2-ND
AP3B2p.R597H
Missense
SNP
0.490
2-ND
APAF1-
-
-
-
3GainND
APOBEC1-
-
-
-
3GainND
APOF-
-
-
-
3GainND
APOLD1-
-
-
-
3GainND
APPL2-
-
-
-
3GainND
AQP2-
-
-
-
3GainND
AQP5-
-
-
-
3GainND
AQP6-
-
-
-
3GainND
ARC-
-
-
-
4GainND
ARF3-
-
-
-
3GainND
ARFGEF1-
-
-
-
5AmpND
ARHGAP22p.R431Q
Missense
SNP
0.551
2-ND
ARHGAP39-
-
-
-
4GainND
ARHGAP9-
-
-
-
3GainND
ARHGDIB-
-
-
-
3GainND
ARHGEF17p.A927T
Missense
SNP
0.486
2-ND
ARHGEF25-
-
-
-
3GainND
ARHGEF5-
-
-
-
1LossND
ARID2-
-
-
-
3GainND
ARL1-
-
-
-
3GainND
ARL6IP4-
-
-
-
3GainND
ARMC1-
-
-
-
5AmpND
ARMC5p.A607T
Missense
SNP
0.504
2-ND
ARNT2p.P582L
Missense
SNP
0.469
2-ND
ARNTL2-
-
-
-
3GainND
ARPC3-
-
-
-
3GainND
ART4-
-
-
-
3GainND
ASAP1-
-
-
-
4GainND
ASB8-
-
-
-
3GainND
ASCL1-
-
-
-
3GainND
ASCL4-
-
-
-
3GainND
ASIC1-
-
-
-
3GainND
ASPH-
-
-
-
5AmpND
ATAD2-
-
-
-
4GainND
ATF1-
-
-
-
3GainND
ATF7-
-
-
-
3GainND
ATF7IP-
-
-
-
3GainND
ATG101-
-
-
-
3GainND
ATL1p.R5H
Missense
SNP
0.430
2-ND
ATN1-
-
-
-
3GainND
ATP10Ap.T1281M
Missense
SNP
0.357
2-ND
ATP23-
-
-
-
3GainND
ATP2A2-
-
-
-
3GainND
ATP2B1-
-
-
-
3GainND
ATP2C2p.V260A
Missense
SNP
0.456
2-ND
ATP5F1B-
-
-
-
3GainND
ATP5MC2-
-
-
-
3GainND
ATP6V0A2-
-
-
-
3GainND
ATP6V0D2-
-
-
-
5AmpND
ATP6V1C1-
-
-
-
5AmpND
ATP6V1H-
-
-
-
5AmpND
ATXN2-
-
-
-
3GainND
ATXN7L3B-
-
-
-
3GainND
AVIL-
-
-
-
3GainND
AVPR1A-
-
-
-
3GainND
AZIN1-
-
-
-
5AmpND
B3GNT4-
-
-
-
3GainND
B4GALNT1-
-
-
-
3GainND
B4GALNT3-
-
-
-
3GainND
BAALC-
-
-
-
5AmpND
BARHL2p.T57A
Missense
SNP
0.509
2-ND
BAZ2A-
-
-
-
3GainND
BBS10-
-
-
-
3GainND
BCAT1-
-
-
-
3GainND
BCDIN3D-
-
-
-
3GainND
BCL2L14-
-
-
-
3GainND
BCL7A-
-
-
-
3GainND
BEST3-
-
-
-
3GainND
BHLHE22-
-
-
-
5AmpND
BHLHE41-
-
-
-
3GainND
BICD1-
-
-
-
3GainND
BICDL1-
-
-
-
3GainND
BIN2-
-
-
-
3GainND
BIRC6p.R3284H
Missense
SNP
0.539
2-ND
BLOC1S1-
-
-
-
3GainND
BLOC1S1-RDH5-
-
-
-
3GainND
BLOC1S5-
-
-
-
1LossND
BLOC1S5-TXNDC5-
-
-
-
1LossND
BMP6-
-
-
-
1LossND
BOLA1-
-
-
-
1LossND
BOP1-
-
-
-
4GainND
BORCS5-
-
-
-
3GainND
BRAFp.V600E
Missense
SNP
0.472
2-ND
BRAP-
-
-
-
3GainND
BRCA2p.A392V
Missense
SNP
0.492
2-ND
BRI3BP-
-
-
-
3GainND
BRINP3p.R530H
Missense
SNP
0.479
2-ND
BSXp.P11L
Missense
SNP
0.333
2-ND
BTBD11-
-
-
-
3GainND
BTG1-
-
-
-
3GainND
C12orf10-
-
-
-
3GainND
C12orf29-
-
-
-
3GainND
C12orf4-
-
-
-
3GainND
C12orf40-
-
-
-
3GainND
C12orf42p.R293Q
Missense
SNP
0.659
3GainND
C12orf43-
-
-
-
3GainND
C12orf45-
-
-
-
3GainND
C12orf50-
-
-
-
3GainND
C12orf54-
-
-
-
3GainND
C12orf56-
-
-
-
3GainND
C12orf57-
-
-
-
3GainND
C12orf60-
-
-
-
3GainND
C12orf65-
-
-
-
3GainND
C12orf66-
-
-
-
3GainND
C12orf71-
-
-
-
3GainND
C12orf73-
-
-
-
3GainND
C12orf75-
-
-
-
3GainND
C12orf76-
-
-
-
3GainND
C1QL4-
-
-
-
3GainND
C1R-
-
-
-
3GainND
C1RL-
-
-
-
3GainND
C1S-
-
-
-
3GainND
C2CD5-
-
-
-
3GainND
C3AR1-
-
-
-
3GainND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C6orf118p.R214M
Missense
SNP
0.483
2-ND
C8orf33-
-
-
-
4GainND
C8orf34-
-
-
-
5AmpND
C8orf37-
-
-
-
5AmpND
C8orf44-
-
-
-
5AmpND
C8orf59-
-
-
-
5AmpND
C8orf76-
-
-
-
4GainND
C8orf82-
-
-
-
4GainND
C8orf88-
-
-
-
5AmpND
C8orf89-
-
-
-
5AmpND
CA1-
-
-
-
5AmpND
CA13-
-
-
-
5AmpND
CA2-
-
-
-
5AmpND
CA3-
-
-
-
5AmpND
CA8-
-
-
-
5AmpND
CABP1-
-
-
-
3GainND
CACNA1C-
-
-
-
3GainND
CACNA2D4-
-
-
-
3GainND
CACNB3-
-
-
-
3GainND
CADPS2p.T712P
Missense
SNP
0.560
2-ND
CAGE1-
-
-
-
1LossND
CALB1-
-
-
-
5AmpND
CALCOCO1-
-
-
-
3GainND
CAMKK2-
-
-
-
3GainND
CAND1-
-
-
-
3GainND
CAPN5p.A185T
Missense
SNP
0.383
2-ND
CAPRIN2-
-
-
-
3GainND
CAPS2-
-
-
-
3GainND
CAPZA3-
-
-
-
3GainND
CASC1-
-
-
-
3GainND
CASZ1p.A1052T
Missense
SNP
0.388
2-ND
CBARPp.T12A
Missense
SNP
0.333
2-ND
CBLBp.R644C
Missense
SNP
0.525
2-ND
CBX5-
-
-
-
3GainND
CC2D1Ap.R886C
Missense
SNP
0.404
2-ND
CCDC166-
-
-
-
4GainND
CCDC184-
-
-
-
3GainND
CCDC38-
-
-
-
3GainND
CCDC59-
-
-
-
3GainND
CCDC60-
-
-
-
3GainND
CCDC62-
-
-
-
3GainND
CCDC63-
-
-
-
3GainND
CCDC65-
-
-
-
3GainND
CCDC77-
-
-
-
3GainND
CCDC91-
-
-
-
3GainND
CCDC92-
-
-
-
3GainND
CCER1-
-
-
-
3GainND
CCND2-
-
-
-
3GainND
CCNE2-
-
-
-
5AmpND
CCNT1-
-
-
-
3GainND
CCT2-
-
-
-
3GainND
CCT8L2p.V522M
Missense
SNP
0.501
2-ND
CD163-
-
-
-
3GainND
CD163L1-
-
-
-
3GainND
CD27-
-
-
-
3GainND
CD274p.Q156H
Missense
SNP
0.444
2-ND
CD4-
-
-
-
3GainND
CD63-
-
-
-
3GainND
CD69-
-
-
-
3GainND
CD9-
-
-
-
3GainND
CDCA3-
-
-
-
3GainND
CDH17-
-
-
-
5AmpND
CDK17-
-
-
-
3GainND
CDK18p.R156H
Missense
SNP
0.541
2-ND
CDK2-
-
-
-
3GainND
CDK2AP1-
-
-
-
3GainND
CDK4-
-
-
-
3GainND
CDKN1B-
-
-
-
3GainND
CEBPD-
-
-
-
5AmpND
CELA1-
-
-
-
3GainND
CEP290-
-
-
-
3GainND
CEP83-
-
-
-
3GainND
CERS5-
-
-
-
3GainND
CFAP54-
-
-
-
3GainND
CFAP73-
-
-
-
3GainND
CHCHD7-
-
-
-
5AmpND
CHD4-
-
-
-
3GainND
CHD7-
-
-
-
5AmpND
CHFR-
-
-
-
3GainND
CHMP4C-
-
-
-
5AmpND
CHPT1-
-
-
-
3GainND
CHRAC1-
-
-
-
4GainND
CHST11-
-
-
-
3GainND
CIT-
-
-
-
3GainND
CKAP4-
-
-
-
3GainND
CLEC12A-
-
-
-
3GainND
CLEC12B-
-
-
-
3GainND
CLEC1A-
-
-
-
3GainND
CLEC1B-
-
-
-
3GainND
CLEC2A-
-
-
-
3GainND
CLEC2B-
-
-
-
3GainND
CLEC2D-
-
-
-
3GainND
CLEC4A-
-
-
-
3GainND
CLEC4C-
-
-
-
3GainND
CLEC4D-
-
-
-
3GainND
CLEC4E-
-
-
-
3GainND
CLEC6A-
-
-
-
3GainND
CLEC7A-
-
-
-
3GainND
CLEC9A-
-
-
-
3GainND
CLECL1-
-
-
-
3GainND
CLIP1-
-
-
-
3GainND
CLLU1OS-
-
-
-
3GainND
CLSTN3-
-
-
-
3GainND
CLVS1-
-
-
-
5AmpND
CMAS-
-
-
-
3GainND
CMKLR1-
-
-
-
3GainND
CNBD1-
-
-
-
5AmpND
CNGB3-
-
-
-
5AmpND
CNNM1p.R458C
Missense
SNP
0.493
2-ND
CNOT2-
-
-
-
3GainND
CNPY2-
-
-
-
3GainND
CNTN1-
-
-
-
3GainND
CNTNAP2-
-
-
-
3GainND
COL12A1p.X2114_splice
Splice_Site
SNP
0.444
2-ND
COL14A1-
-
-
-
5AmpND
COL22A1-
-
-
-
4GainND
COL2A1p.Q36*
Nonsense
SNP
0.325
3GainND
COL4A3p.K939N
Missense
SNP
0.392
2-ND
COLEC10-
-
-
-
5AmpND
COLEC12p.G512D
Missense
SNP
0.473
2-ND
COMMD5-
-
-
-
4GainND
COPS5-
-
-
-
5AmpND
COPS7A-
-
-
-
3GainND
COPZ1-
-
-
-
3GainND
COQ10A-
-
-
-
3GainND
COQ5-
-
-
-
3GainND
CORO1C-
-
-
-
3GainND
COX14-
-
-
-
3GainND
COX6A1-
-
-
-
3GainND
COX6C-
-
-
-
5AmpND
CPA6-
-
-
-
5AmpND
CPM-
-
-
-
3GainND
CPNE3-
-
-
-
5AmpND
CPNE8-
-
-
-
3GainND
CPQ-
-
-
-
5AmpND
CPSF1-
-
-
-
4GainND
CPSF6-
-
-
-
3GainND
CPXM2p.S554Y
p.P73L
Missense
Missense
SNP
SNP
0.454
0.564
2-ND
CRACR2A-
-
-
-
3GainND
CRADD-
-
-
-
3GainND
CREBL2-
-
-
-
3GainND
CRH-
-
-
-
5AmpND
CRISPLD1-
-
-
-
5AmpND
CRY1-
-
-
-
3GainND
CS-
-
-
-
3GainND
CSAD-
-
-
-
3GainND
CSMD3p.G549D
Missense
SNP
0.211
5AmpND
CSPP1-
-
-
-
5AmpND
CSRNP2-
-
-
-
3GainND
CSRP2-
-
-
-
3GainND
CTAGE8-
-
-
-
1LossND
CTDSP2-
-
-
-
3GainND
CTHRC1-
-
-
-
5AmpND
CTNNB1p.S646C
Missense
SNP
0.530
2-ND
CTNND1p.R236H
Missense
SNP
0.433
2-ND
CUX2-
-
-
-
3GainND
CYC1-
-
-
-
4GainND
CYHR1-
-
-
-
4GainND
CYP11B1-
-
-
-
4GainND
CYP11B2-
-
-
-
4GainND
CYP27B1-
-
-
-
3GainND
CYP7A1-
-
-
-
5AmpND
CYP7B1-
-
-
-
5AmpND
DACH1-
-
-
-
3GainND
DAO-
-
-
-
3GainND
DAZAP2-
-
-
-
3GainND
DBX2-
-
-
-
3GainND
DCAF13-
-
-
-
5AmpND
DCAF4L2-
-
-
-
5AmpND
DCD-
-
-
-
3GainND
DCN-
-
-
-
3GainND
DCP1B-
-
-
-
3GainND
DCST2p.G690D
Missense
SNP
0.344
2-ND
DCSTAMP-
-
-
-
5AmpND
DCTN2-
-
-
-
3GainND
DDIT3-
-
-
-
3GainND
DDN-
-
-
-
3GainND
DDX11-
-
-
-
3GainND
DDX23-
-
-
-
3GainND
DDX47-
-
-
-
3GainND
DDX51-
-
-
-
3GainND
DDX54-
-
-
-
3GainND
DDX55-
-
-
-
3GainND
DECR1-
-
-
-
5AmpND
DEFA4-
-
-
-
1LossND
DEFA5-
-
-
-
1LossND
DEFA6-
-
-
-
1LossND
DEFB1-
-
-
-
1LossND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DENND3-
-
-
-
4GainND
DENND5B-
-
-
-
3GainND
DENR-
-
-
-
3GainND
DEPDC4-
-
-
-
3GainND
DEPTOR-
-
-
-
5AmpND
DERA-
-
-
-
3GainND
DERL1-
-
-
-
5AmpND
DET1p.R527H
Missense
SNP
0.600
2-ND
DGAT1-
-
-
-
4GainND
DGKA-
-
-
-
3GainND
DGKHp.A981T
Missense
SNP
0.391
2-ND
DHH-
-
-
-
3GainND
DHX37-
-
-
-
3GainND
DIABLO-
-
-
-
3GainND
DIAPH3-
-
-
-
3GainND
DIDO1p.S2007L
Missense
SNP
0.461
2-ND
DIP2B-
-
-
-
3GainND
DMRTA1p.A209T
Missense
SNP
0.541
2-ND
DNAH10-
-
-
-
3GainND
DNAH3p.R308W
Missense
SNP
0.476
2-ND
DNAJB7p.Q11*
Nonsense
SNP
0.490
2-ND
DNAJC14-
-
-
-
3GainND
DNAJC22-
-
-
-
3GainND
DNAJC5B-
-
-
-
5AmpND
DNER-
-
-
-
1LossND
DNHD1p.V1072M
Missense
SNP
0.430
2-ND
DNM1L-
-
-
-
3GainND
DOCK7p.G1314D
Missense
SNP
0.468
2-ND
DOT1Lp.A894T
Missense
SNP
0.581
2-ND
DPEP2p.N176S
Missense
SNP
0.446
2-ND
DPP7p.T278A
Missense
SNP
0.461
2-ND
DPPA3-
-
-
-
3GainND
DPY19L2-
-
-
-
3GainND
DPY19L4-
-
-
-
5AmpND
DPYS-
-
-
-
5AmpND
DRAM1-
-
-
-
3GainND
DRC1p.R117H
Missense
SNP
0.458
2-ND
DSCC1-
-
-
-
5AmpND
DSP-
-
-
-
1LossND
DTX1-
-
-
-
3GainND
DTX3-
-
-
-
3GainND
DUPD1p.V94M
Missense
SNP
0.541
2-ND
DUSP16-
-
-
-
3GainND
DUSP6-
-
-
-
3GainND
DYDC1-
-
-
-
1LossND
DYDC2-
-
-
-
1LossND
DYNLL1-
-
-
-
3GainND
DYRK2-
-
-
-
3GainND
DYRK4-
-
-
-
3GainND
E2F5-
-
-
-
5AmpND
E2F7-
-
-
-
3GainND
EBAG9-
-
-
-
5AmpND
EEA1-
-
-
-
3GainND
EEF1AKMT3-
-
-
-
3GainND
EEF1D-
-
-
-
4GainND
EEF1E1-
-
-
-
1LossND
EEF1E1-BLOC1S5-
-
-
-
1LossND
EFCAB1-
-
-
-
5AmpND
EFR3A-
-
-
-
4GainND
EFTUD2p.R578*
Nonsense
SNP
0.509
2-ND
EID3-
-
-
-
3GainND
EIF2B1-
-
-
-
3GainND
EIF2S3B-
-
-
-
3GainND
EIF3E-
-
-
-
5AmpND
EIF3H-
-
-
-
5AmpND
EIF4B-
-
-
-
3GainND
EIF5AL1-
-
-
-
1LossND
ELK3-
-
-
-
3GainND
ELOC-
-
-
-
5AmpND
EMC2-
-
-
-
5AmpND
EMG1-
-
-
-
3GainND
EML6p.R1767Q
Missense
SNP
0.482
2-ND
EMP1-
-
-
-
3GainND
ENDOU-
-
-
-
3GainND
ENO2-
-
-
-
3GainND
ENPP2-
-
-
-
5AmpND
ENY2-
-
-
-
5AmpND
EP400-
-
-
-
3GainND
EPAS1p.R247H
Missense
SNP
0.511
2-ND
EPG5p.R1454H
Missense
SNP
0.509
2-ND
EPHA10p.A118T
Missense
SNP
0.533
2-ND
EPPK1p.H1914R
Missense
SNP
0.753
4GainND
EPS8-
-
-
-
3GainND
EPYC-
-
-
-
3GainND
ERBB3-
-
-
-
3GainND
ERC1-
-
-
-
3GainND
ERGIC2-
-
-
-
3GainND
ERICH5-
-
-
-
5AmpND
ERP27-
-
-
-
3GainND
ERP29-
-
-
-
3GainND
ESPL1-
-
-
-
3GainND
ESPNLp.G362V
Missense
SNP
0.557
2-ND
ESRP1-
-
-
-
5AmpND
ESYT1-
-
-
-
3GainND
ETFBKMT-
-
-
-
3GainND
ETFRF1-
-
-
-
3GainND
ETNK1-
-
-
-
3GainND
ETV6-
-
-
-
3GainND
EVC2p.A814T
Missense
SNP
0.525
2-ND
EXOSC4-
-
-
-
4GainND
EXPH5p.V1110I
Missense
SNP
0.483
2-ND
EXT1-
-
-
-
5AmpND
EYA1-
-
-
-
5AmpND
FABP12-
-
-
-
5AmpND
FABP4-
-
-
-
5AmpND
FABP5-
-
-
-
5AmpND
FABP9-
-
-
-
5AmpND
FAIM2-
-
-
-
3GainND
FAM110Bp.D57E
Missense
SNP
0.201
5AmpND
FAM120Bp.V867I
Missense
SNP
0.529
2-ND
FAM135B-
-
-
-
4GainND
FAM172Ap.R87W
Missense
SNP
0.507
2-ND
FAM184Bp.A138V
Missense
SNP
0.576
2-ND
FAM186A-
-
-
-
3GainND
FAM186B-
-
-
-
3GainND
FAM19A2-
-
-
-
3GainND
FAM216A-
-
-
-
3GainND
FAM222A-
-
-
-
3GainND
FAM234B-
-
-
-
3GainND
FAM49B-
-
-
-
4GainND
FAM71C-
-
-
-
3GainND
FAM83A-
-
-
-
5AmpND
FAM83H-
-
-
-
4GainND
FAM84B-
-
-
-
4GainND
FAM91A1-
-
-
-
4GainND
FAM92A-
-
-
-
5AmpND
FAR2-
-
-
-
3GainND
FAT4p.G3345D
Missense
SNP
0.565
2-ND
FBN1p.V764I
Missense
SNP
0.520
2-ND
FBRSL1-
-
-
-
3GainND
FBXL14-
-
-
-
3GainND
FBXL6-
-
-
-
4GainND
FBXO21-
-
-
-
3GainND
FBXO32-
-
-
-
4GainND
FBXO36-
-
-
-
1LossND
FBXO43-
-
-
-
5AmpND
FBXW8-
-
-
-
3GainND
FCGR1A-
-
-
-
1LossND
FER1L6-
-
-
-
4GainND
FERD3Lp.R113W
Missense
SNP
0.473
2-ND
FGD4-
-
-
-
3GainND
FGD5p.A130V
Missense
SNP
0.521
2-ND
FGD6-
-
-
-
3GainND
FGF23-
-
-
-
3GainND
FGF6-
-
-
-
3GainND
FGFR1OP2-
-
-
-
3GainND
FICD-
-
-
-
3GainND
FIGNL2-
-
-
-
3GainND
FKBP11-
-
-
-
3GainND
FKBP4-
-
-
-
3GainND
FLRT2-
-
-
-
3GainND
FMNL3-
-
-
-
3GainND
FOXH1-
-
-
-
4GainND
FOXJ2-
-
-
-
3GainND
FOXM1-
-
-
-
3GainND
FOXN4-
-
-
-
3GainND
FREM2p.A202T
Missense
SNP
0.412
2-ND
FRS2-
-
-
-
3GainND
FRYp.Q2102L
Missense
SNP
0.491
2-ND
FSBP-
-
-
-
5AmpND
FZD10-
-
-
-
3GainND
FZD6-
-
-
-
5AmpND
FZR1p.E105K
Missense
SNP
0.573
2-ND
GABARAPL1-
-
-
-
3GainND
GABRA6p.V232A
Missense
SNP
0.539
2-ND
GALNT11-
-
-
-
1LossND
GALNT6-
-
-
-
3GainND
GALNT8-
-
-
-
3GainND
GALNT9-
-
-
-
3GainND
GALNTL5-
-
-
-
1LossND
GANp.T154I
Missense
SNP
0.544
2-ND
GAPDH-
-
-
-
3GainND
GAS2L3-
-
-
-
3GainND
GATC-
-
-
-
3GainND
GCN1-
-
-
-
3GainND
GDAP1-
-
-
-
5AmpND
GDF11-
-
-
-
3GainND
GDF3-
-
-
-
3GainND
GDF6-
-
-
-
5AmpND
GEM-
-
-
-
5AmpND
GGH-
-
-
-
5AmpND
GIMAP1p.R52W
Missense
SNP
0.503
2-ND
GIT2-
-
-
-
3GainND
GJA8p.R101C
Missense
SNP
0.486
2-ND
GLI1-
-
-
-
3GainND
GLI4-
-
-
-
4GainND
GLIPR1-
-
-
-
3GainND
GLIPR1L1-
-
-
-
3GainND
GLIPR1L2-
-
-
-
3GainND
GLIPR2p.V26I
Missense
SNP
0.533
2-ND
GLS2-
-
-
-
3GainND
GLT1D1-
-
-
-
3GainND
GLT8D1-
-
-
-
3GainND
GLT8D2-
-
-
-
3GainND
GLTP-
-
-
-
3GainND
GML-
-
-
-
4GainND
GNALp.T11M
Missense
SNP
0.446
2-ND
GNB3-
-
-
-
3GainND
GNL3-
-
-
-
3GainND
GNPTAB-
-
-
-
3GainND
GNS-
-
-
-
3GainND
GOLGA3-
-
-
-
3GainND
GOLT1B-
-
-
-
3GainND
GPAA1-
-
-
-
4GainND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GPD1-
-
-
-
3GainND
GPIHBP1-
-
-
-
4GainND
GPN3-
-
-
-
3GainND
GPR162-
-
-
-
3GainND
GPR182-
-
-
-
3GainND
GPR19-
-
-
-
3GainND
GPR20-
-
-
-
4GainND
GPR84-
-
-
-
3GainND
GPR88p.A82T
Missense
SNP
0.479
2-ND
GPRC5A-
-
-
-
3GainND
GPRC5D-
-
-
-
3GainND
GPT-
-
-
-
4GainND
GRASP-
-
-
-
3GainND
GRHL2-
-
-
-
5AmpND
GRIK1p.Q9P
Missense
SNP
0.500
2-ND
GRIN2Bp.P1194L
Missense
SNP
0.690
3GainND
GRINA-
-
-
-
4GainND
GRIP1-
-
-
-
3GainND
GRM7p.A648V
Missense
SNP
0.519
2-ND
GSDMC-
-
-
-
4GainND
GSDMD-
-
-
-
4GainND
GSG1-
-
-
-
3GainND
GTF2H3-
-
-
-
3GainND
GTSF1-
-
-
-
3GainND
GUCY2C-
-
-
-
3GainND
GXYLT1-
-
-
-
3GainND
GYS2-
-
-
-
3GainND
H1FNT-
-
-
-
3GainND
H2AFJ-
-
-
-
3GainND
H3F3C-
-
-
-
3GainND
HAL-
-
-
-
3GainND
HAS2-
-
-
-
5AmpND
HCAR1-
-
-
-
3GainND
HCAR2-
-
-
-
3GainND
HCAR3-
-
-
-
3GainND
HCFC2-
-
-
-
3GainND
HDAC7-
-
-
-
3GainND
HEBP1-
-
-
-
3GainND
HECTD4-
-
-
-
3GainND
HELB-
-
-
-
3GainND
HEY1-
-
-
-
5AmpND
HGH1-
-
-
-
4GainND
HHLA1-
-
-
-
4GainND
HIGD1C-
-
-
-
3GainND
HIP1R-
-
-
-
3GainND
HIPK1p.A744T
Missense
SNP
0.389
2-ND
HIST2H2AA3-
-
-
-
1LossND
HIST2H2AA4-
-
-
-
1LossND
HIST2H2AB-
-
-
-
1LossND
HIST2H2AC-
-
-
-
1LossND
HIST2H2BE-
-
-
-
1LossND
HIST2H2BF-
-
-
-
1LossND
HIST2H3A-
-
-
-
1LossND
HIST2H3C-
-
-
-
1LossND
HIST2H3D-
-
-
-
1LossND
HIST2H4A-
-
-
-
1LossND
HIST2H4B-
-
-
-
1LossND
HIST4H4-
-
-
-
3GainND
HMGA2-
-
-
-
3GainND
HNF1Ap.A209T
Missense
SNP
0.606
3GainND
HNF4G-
-
-
-
5AmpND
HNRNPA1-
-
-
-
3GainND
HNRNPCL1-
-
-
-
1LossND
HNRNPCL2-
-
-
-
1LossND
HNRNPCL3-
-
-
-
1LossND
HNRNPCL4-
-
-
-
1LossND
HOXC10-
-
-
-
3GainND
HOXC11-
-
-
-
3GainND
HOXC12-
-
-
-
3GainND
HOXC13-
-
-
-
3GainND
HOXC4-
-
-
-
3GainND
HOXC5-
-
-
-
3GainND
HOXC6-
-
-
-
3GainND
HOXC8-
-
-
-
3GainND
HOXC9-
-
-
-
3GainND
HPD-
-
-
-
3GainND
HRK-
-
-
-
3GainND
HSD17B6-
-
-
-
3GainND
HSF1-
-
-
-
4GainND
HSP90B1-
-
-
-
3GainND
HSPA1A-
-
-
-
1LossND
HSPA1B-
-
-
-
1LossND
HSPB6p.R27C
Missense
SNP
0.531
2-ND
HSPB8-
-
-
-
3GainND
HTTp.A2818T
Missense
SNP
0.451
2-ND
HUNKp.A236T
Missense
SNP
0.505
2-ND
HVCN1-
-
-
-
3GainND
IAPP-
-
-
-
3GainND
IFFO1-
-
-
-
3GainND
IFNG-
-
-
-
3GainND
IFT140p.T929M
Missense
SNP
0.472
2-ND
IFT81-
-
-
-
3GainND
IGF1-
-
-
-
3GainND
IGFBP6-
-
-
-
3GainND
IKBIP-
-
-
-
3GainND
IKZF4-
-
-
-
3GainND
IL16p.C318R
Missense
SNP
0.503
2-ND
IL1RAPp.P508Q
Missense
SNP
0.544
2-ND
IL21Rp.S364N
Missense
SNP
0.500
2-ND
IL22-
-
-
-
3GainND
IL23A-
-
-
-
3GainND
IL26-
-
-
-
3GainND
IL31-
-
-
-
3GainND
IL36RNp.P117L
Missense
SNP
0.579
2-ND
IL7-
-
-
-
5AmpND
IMPA1-
-
-
-
5AmpND
IMPAD1-
-
-
-
5AmpND
ING4-
-
-
-
3GainND
ING5p.V167I
Missense
SNP
0.437
2-ND
INHBC-
-
-
-
3GainND
INHBE-
-
-
-
3GainND
INTS13-
-
-
-
3GainND
INTS5p.V355I
Missense
SNP
0.495
2-ND
INTS8-
-
-
-
5AmpND
IPO8-
-
-
-
3GainND
IQANK1-
-
-
-
4GainND
IQCD-
-
-
-
3GainND
IQGAP3p.X1019_splice
Splice_Site
SNP
0.493
2-ND
IQSEC3-
-
-
-
3GainND
IRAK3-
-
-
-
3GainND
IRAK4-
-
-
-
3GainND
IRGQp.A494V
Missense
SNP
0.559
2-ND
IRX5p.S227L
Missense
SNP
0.582
2-ND
ISCU-
-
-
-
3GainND
ISLRp.S300F
Missense
SNP
0.564
2-ND
ISOC2p.V189I
Missense
SNP
0.448
2-ND
IST1p.R122Q
Missense
SNP
0.363
2-ND
ISYNA1p.G255S
Missense
SNP
0.462
2-ND
ITFG2-
-
-
-
3GainND
ITGA5-
-
-
-
3GainND
ITGA7-
-
-
-
3GainND
ITGAEp.Q74K
Missense
SNP
0.435
2-ND
ITGB7-
-
-
-
3GainND
ITPR2-
-
-
-
3GainND
JAKMIP3p.R703Q
Missense
SNP
0.466
2-ND
JMJD1C-
-
-
-
1LossND
JPH1-
-
-
-
5AmpND
JRK-
-
-
-
4GainND
KANSL2-
-
-
-
3GainND
KCNA1-
-
-
-
3GainND
KCNA5-
-
-
-
3GainND
KCNA6-
-
-
-
3GainND
KCNB2-
-
-
-
5AmpND
KCNC2-
-
-
-
3GainND
KCNH3-
-
-
-
3GainND
KCNIP3p.P211S
Missense
SNP
0.450
2-ND
KCNJ8-
-
-
-
3GainND
KCNK10p.P42L
Missense
SNP
0.525
2-ND
KCNK15p.A143V
Missense
SNP
0.512
2-ND
KCNK9-
-
-
-
4GainND
KCNMB4-
-
-
-
3GainND
KCNQ3-
-
-
-
4GainND
KCNS2-
-
-
-
5AmpND
KCNT1p.R365C
Missense
SNP
0.552
2-ND
KCNV1-
-
-
-
5AmpND
KCTD10-
-
-
-
3GainND
KDM2B-
-
-
-
3GainND
KDM5A-
-
-
-
3GainND
KERA-
-
-
-
3GainND
KHDRBS3-
-
-
-
4GainND
KIAA0319p.D556N
Missense
SNP
0.428
2-ND
KIAA1161p.R298C
Missense
SNP
0.487
NDNDND
KIAA1328p.G472W
Missense
SNP
0.474
2-ND
KIAA1551-
-
-
-
3GainND
KIF21A-
-
-
-
3GainND
KIF23p.W729L
Missense
SNP
0.480
2-ND
KIF5A-
-
-
-
3GainND
KIFC2-
-
-
-
4GainND
KIR3DX1p.L319V
Missense
SNP
0.530
NDNDND
KITp.R956W
Missense
SNP
0.472
2-ND
KITLG-
-
-
-
3GainND
KLF10-
-
-
-
5AmpND
KLHL1-
-
-
-
3GainND
KLHL38-
-
-
-
4GainND
KLHL42-
-
-
-
3GainND
KLRB1-
-
-
-
3GainND
KLRC1-
-
-
-
3GainND
KLRC2-
-
-
-
3GainND
KLRC3-
-
-
-
3GainND
KLRC4-
-
-
-
3GainND
KLRC4-KLRK1-
-
-
-
3GainND
KLRD1-
-
-
-
3GainND
KLRF1-
-
-
-
3GainND
KLRF2-
-
-
-
3GainND
KLRG1-
-
-
-
3GainND
KLRK1-
-
-
-
3GainND
KMT2Cp.R3853W
Missense
SNP
1.000
1LossND
KMT2D-
-
-
-
3GainND
KMT5A-
-
-
-
3GainND
KNTC1-
-
-
-
3GainND
KRAS-
-
-
-
3GainND
KRR1-
-
-
-
3GainND
KRT1-
-
-
-
3GainND
KRT18-
-
-
-
3GainND
KRT2-
-
-
-
3GainND
KRT27p.T324M
Missense
SNP
0.562
2-ND
KRT3-
-
-
-
3GainND
KRT4-
-
-
-
3GainND
KRT5-
-
-
-
3GainND
KRT6A-
-
-
-
3GainND
KRT6B-
-
-
-
3GainND
KRT6C-
-
-
-
3GainND
KRT7-
-
-
-
3GainND
KRT71-
-
-
-
3GainND
KRT72-
-
-
-
3GainND
KRT73-
-
-
-
3GainND
KRT74-
-
-
-
3GainND
KRT75-
-
-
-
3GainND
KRT76-
-
-
-
3GainND
KRT77-
-
-
-
3GainND
KRT78-
-
-
-
3GainND
KRT79-
-
-
-
3GainND
KRT8-
-
-
-
3GainND
KRT80-
-
-
-
3GainND
KRT81-
-
-
-
3GainND
KRT82-
-
-
-
3GainND
KRT83-
-
-
-
3GainND
KRT84-
-
-
-
3GainND
KRT85-
-
-
-
3GainND
KRT86-
-
-
-
3GainND
KSR2-
-
-
-
3GainND
KYAT3p.R429C
Missense
SNP
0.559
2-ND
L3MBTL1p.N520S
Missense
SNP
0.525
2-ND
L3MBTL4p.R420C
Missense
SNP
0.500
2-ND
LACRT-
-
-
-
3GainND
LACTB2-
-
-
-
5AmpND
LAG3-
-
-
-
3GainND
LALBA-
-
-
-
3GainND
LAMA1p.A85V
Missense
SNP
0.483
2-ND
LAPTM4B-
-
-
-
5AmpND
LARP4-
-
-
-
3GainND
LAX1p.A47T
Missense
SNP
0.546
2-ND
LDHB-
-
-
-
3GainND
LEMD3-
-
-
-
3GainND
LETMD1-
-
-
-
3GainND
LGR5-
-
-
-
3GainND
LHX5-
-
-
-
3GainND
LILRA2p.R94W
Missense
SNP
0.448
2-ND
LIMA1-
-
-
-
3GainND
LIMCH1p.A423V
Missense
SNP
0.548
2-ND
LIN7A-
-
-
-
3GainND
LINC02203-
-
-
-
1LossND
LLPH-
-
-
-
3GainND
LMBR1L-
-
-
-
3GainND
LMNTD1-
-
-
-
3GainND
LMO3-
-
-
-
3GainND
LMOD2p.D253N
Missense
SNP
0.506
2-ND
LPAR5-
-
-
-
3GainND
LPCAT3-
-
-
-
3GainND
LRCOL1-
-
-
-
3GainND
LRIG3-
-
-
-
3GainND
LRMP-
-
-
-
3GainND
LRP1-
-
-
-
3GainND
LRP12-
-
-
-
5AmpND
LRP6-
-
-
-
3GainND
LRRC10-
-
-
-
3GainND
LRRC14-
-
-
-
4GainND
LRRC23-
-
-
-
3GainND
LRRC24-
-
-
-
4GainND
LRRC37A3p.N972D
Missense
SNP
0.382
2-ND
LRRC38-
-
-
-
1LossND
LRRC43-
-
-
-
3GainND
LRRC6-
-
-
-
4GainND
LRRC69-
-
-
-
5AmpND
LRRCC1p.A574V
Missense
SNP
0.724
5AmpND
LRRIQ1-
-
-
-
3GainND
LRRK2-
-
-
-
3GainND
LRTM2-
-
-
-
3GainND
LTA4H-
-
-
-
3GainND
LTBR-
-
-
-
3GainND
LUM-
-
-
-
3GainND
LY6D-
-
-
-
4GainND
LY6E-
-
-
-
4GainND
LY6H-
-
-
-
4GainND
LY6K-
-
-
-
4GainND
LY6L-
-
-
-
4GainND
LY96-
-
-
-
5AmpND
LYN-
-
-
-
5AmpND
LYNX1-
-
-
-
4GainND
LYNX1-SLURP2-
-
-
-
4GainND
LYPD2-
-
-
-
4GainND
LYPLA1-
-
-
-
5AmpND
LYZ-
-
-
-
3GainND
M6PR-
-
-
-
3GainND
MAF1-
-
-
-
4GainND
MAFA-
-
-
-
4GainND
MAFBp.A107T
Missense
SNP
0.498
2-ND
MAGOHB-
-
-
-
3GainND
MAL2-
-
-
-
5AmpND
MAN2A2p.R728H
Missense
SNP
0.465
2-ND
MANSC1-
-
-
-
3GainND
MANSC4-
-
-
-
3GainND
MAP3K12-
-
-
-
3GainND
MAPK15-
-
-
-
4GainND
MAPKAPK3p.D187N
Missense
SNP
0.361
2-ND
MAPKAPK5-
-
-
-
3GainND
MARCH9-
-
-
-
3GainND
MARS-
-
-
-
3GainND
MAT1A-
-
-
-
1LossND
MATN2-
-
-
-
5AmpND
MBD6-
-
-
-
3GainND
MBTPS2p.R67Q
Missense
SNP
1.000
NDNDND
MCM4-
-
-
-
5AmpND
MCMDC2-
-
-
-
5AmpND
MCRS1-
-
-
-
3GainND
MDM1-
-
-
-
3GainND
MDM2-
-
-
-
3GainND
MED21-
-
-
-
3GainND
MED30-
-
-
-
5AmpND
METAP2-
-
-
-
3GainND
METTL1-
-
-
-
3GainND
METTL25-
-
-
-
3GainND
METTL7A-
-
-
-
3GainND
METTL7B-
-
-
-
3GainND
MFAP5-
-
-
-
3GainND
MFSD3-
-
-
-
4GainND
MFSD5-
-
-
-
3GainND
MGAT4C-
-
-
-
3GainND
MGP-
-
-
-
3GainND
MGST1-
-
-
-
3GainND
MIP-
-
-
-
3GainND
MLEC-
-
-
-
3GainND
MLF2-
-
-
-
3GainND
MLXIP-
-
-
-
3GainND
MMAB-
-
-
-
3GainND
MMP16-
-
-
-
5AmpND
MMP17-
-
-
-
3GainND
MMP19-
-
-
-
3GainND
MON2-
-
-
-
3GainND
MORN3-
-
-
-
3GainND
MOS-
-
-
-
5AmpND
MPHOSPH9-
-
-
-
3GainND
MROH1-
-
-
-
4GainND
MROH5-
-
-
-
4GainND
MROH6-
-
-
-
4GainND
MRPL13-
-
-
-
5AmpND
MRPL15-
-
-
-
5AmpND
MRPL42-
-
-
-
3GainND
MRPL51-
-
-
-
3GainND
MRPS28-
-
-
-
5AmpND
MRPS35-
-
-
-
3GainND
MSC-
-
-
-
5AmpND
MSI1-
-
-
-
3GainND
MSRB3-
-
-
-
3GainND
MTBP-
-
-
-
5AmpND
MTCL1p.L33M
Missense
SNP
0.537
2-ND
MTDH-
-
-
-
5AmpND
MTERF2-
-
-
-
3GainND
MTERF3-
-
-
-
5AmpND
MTFR1-
-
-
-
5AmpND
MTMR11-
-
-
-
1LossND
MTMR8p.R17H
Missense
SNP
1.000
NDNDND
MTSS1-
-
-
-
4GainND
MUC17p.R3865C
Missense
SNP
0.510
2-ND
MUC19-
-
-
-
3GainND
MUCL1-
-
-
-
3GainND
MVK-
-
-
-
3GainND
MYBL1-
-
-
-
5AmpND
MYBPC1-
-
-
-
3GainND
MYC-
-
-
-
4GainND
MYF5-
-
-
-
3GainND
MYF6-
-
-
-
3GainND
MYL2-
-
-
-
3GainND
MYL6-
-
-
-
3GainND
MYL6B-
-
-
-
3GainND
MYLKp.S1147F
Missense
SNP
0.479
2-ND
MYO1A-
-
-
-
3GainND
MYO1H-
-
-
-
3GainND
MYRFL-
-
-
-
3GainND
MYT1p.R231H
Missense
SNP
0.528
2-ND
MYT1Lp.Y823C
p.R558H
Missense
Missense
SNP
SNP
0.515
0.503
2-ND
NAA25-
-
-
-
3GainND
NAB2-
-
-
-
3GainND
NABP2-
-
-
-
3GainND
NACA-
-
-
-
3GainND
NANOG-
-
-
-
3GainND
NANOGNB-
-
-
-
3GainND
NAP1L1-
-
-
-
3GainND
NAPRT-
-
-
-
4GainND
NAV3-
-
-
-
3GainND
NBN-
-
-
-
5AmpND
NBPF19-
-
-
-
1LossND
NBPF9-
-
-
-
1LossND
NCALD-
-
-
-
5AmpND
NCAPD2-
-
-
-
3GainND
NCKAP1L-
-
-
-
3GainND
NCKAP5L-
-
-
-
3GainND
NCOA2-
-
-
-
5AmpND
NCOR2-
-
-
-
3GainND
NDRG1-
-
-
-
4GainND
NDUFA12-
-
-
-
3GainND
NDUFA4L2-
-
-
-
3GainND
NDUFA9-
-
-
-
3GainND
NDUFAF6-
-
-
-
5AmpND
NDUFB9-
-
-
-
4GainND
NECAB1-
-
-
-
5AmpND
NECAP1-
-
-
-
3GainND
NEDD1-
-
-
-
3GainND
NEK4-
-
-
-
3GainND
NELL2-
-
-
-
3GainND
NEMP1-
-
-
-
3GainND
NEUROD4-
-
-
-
3GainND
NFE2-
-
-
-
3GainND
NFYB-
-
-
-
3GainND
NINJ2-
-
-
-
3GainND
NIPA1-
-
-
-
1LossND
NIPAL2-
-
-
-
5AmpND
NKAIN3-
-
-
-
5AmpND
NLRP7p.A354T
Missense
SNP
0.448
2-ND
NOC4L-
-
-
-
3GainND
NOP2-
-
-
-
3GainND
NOS1-
-
-
-
3GainND
NOS3p.V76M
Missense
SNP
0.560
2-ND
NOV-
-
-
-
5AmpND
NPBWR1-
-
-
-
5AmpND
NPFF-
-
-
-
3GainND
NPR2p.R116H
Missense
SNP
0.513
2-ND
NR1H4-
-
-
-
3GainND
NR2C1-
-
-
-
3GainND
NR4A1-
-
-
-
3GainND
NRBF2-
-
-
-
1LossND
NRBP2-
-
-
-
4GainND
NRIP2-
-
-
-
3GainND
NSMAF-
-
-
-
5AmpND
NSMCE2-
-
-
-
4GainND
NT5DC3-
-
-
-
3GainND
NTF3-
-
-
-
3GainND
NTN4-
-
-
-
3GainND
NTS-
-
-
-
3GainND
NUAK1-
-
-
-
3GainND
NUCB1p.R189H
Missense
SNP
0.494
2-ND
NUDCD1-
-
-
-
5AmpND
NUDT4-
-
-
-
3GainND
NUP107-
-
-
-
3GainND
NUP37-
-
-
-
3GainND
NXPH4-
-
-
-
3GainND
OAS1-
-
-
-
3GainND
OAS2-
-
-
-
3GainND
OAS3-
-
-
-
3GainND
OASL-
-
-
-
3GainND
OC90-
-
-
-
4GainND
OCA2p.A433T
Missense
SNP
0.497
2-ND
ODF1-
-
-
-
5AmpND
OGFOD2-
-
-
-
3GainND
OLFM4-
-
-
-
3GainND
OLR1-
-
-
-
3GainND
OPLAH-
-
-
-
4GainND
OPRK1-
-
-
-
5AmpND
OR10A7-
-
-
-
3GainND
OR10AD1-
-
-
-
3GainND
OR10J3p.I136T
Missense
SNP
0.488
2-ND
OR10P1-
-
-
-
3GainND
OR2A1-
-
-
-
1LossND
OR2A7-
-
-
-
1LossND
OR2AP1-
-
-
-
3GainND
OR4M2-
-
-
-
1LossND
OR4N4-
-
-
-
1LossND
OR5BS1P-
-
-
-
3GainND
OR6B3p.R227H
Missense
SNP
0.589
2-ND
OR6C1-
-
-
-
3GainND
OR6C2-
-
-
-
3GainND
OR6C3-
-
-
-
3GainND
OR6C4-
-
-
-
3GainND
OR6C6-
-
-
-
3GainND
OR6C65-
-
-
-
3GainND
OR6C68-
-
-
-
3GainND
OR6C70-
-
-
-
3GainND
OR6C74-
-
-
-
3GainND
OR6C75-
-
-
-
3GainND
OR6C76-
-
-
-
3GainND
OR7E47P-
-
-
-
3GainND
OR8S1-
-
-
-
3GainND
OR9K2-
-
-
-
3GainND
ORAI1-
-
-
-
3GainND
ORMDL2-
-
-
-
3GainND
OS9-
-
-
-
3GainND
OSBPL8-
-
-
-
3GainND
OSGIN2-
-
-
-
5AmpND
OSR2-
-
-
-
5AmpND
OTOGL-
-
-
-
3GainND
OTUD6B-
-
-
-
5AmpND
OVCH1-
-
-
-
3GainND
OXR1-
-
-
-
5AmpND
P2RX2-
-
-
-
3GainND
P2RX4-
-
-
-
3GainND
P2RX7-
-
-
-
3GainND
P3H3-
-
-
-
3GainND
PA2G4-
-
-
-
3GainND
PABPC1-
-
-
-
5AmpND
PAG1-
-
-
-
5AmpND
PAH-
-
-
-
3GainND
PAN2-
-
-
-
3GainND
PARP10-
-
-
-
4GainND
PARP11-
-
-
-
3GainND
PARPBP-
-
-
-
3GainND
PATE3p.R54M
Missense
SNP
0.369
2-ND
PAWR-
-
-
-
3GainND
PAX3p.V148M
Missense
SNP
0.550
2-ND
PCBP2-
-
-
-
3GainND
PCDH10p.L333M
Missense
SNP
0.491
2-ND
PCDH17-
-
-
-
3GainND
PCDH8-
-
-
-
3GainND
PCDH9-
-
-
-
3GainND
PCDHA7p.T390M
Missense
SNP
0.478
2-ND
PCED1B-
-
-
-
3GainND
PCLO-
-
-
-
1LossND
PCMTD1-
-
-
-
5AmpND
PDCLp.E51K
Missense
SNP
0.450
2-ND
PDE1B-
-
-
-
3GainND
PDE3A-
-
-
-
3GainND
PDE6H-
-
-
-
3GainND
PDE7A-
-
-
-
5AmpND
PDP1-
-
-
-
5AmpND
PDYNp.K169N
Missense
SNP
0.502
2-ND
PDZRN4-
-
-
-
3GainND
PEBP1-
-
-
-
3GainND
PENK-
-
-
-
5AmpND
PEX2-
-
-
-
5AmpND
PEX5-
-
-
-
3GainND
PFDN5-
-
-
-
3GainND
PFKM-
-
-
-
3GainND
PFKPp.G708*
Nonsense
SNP
0.554
2-ND
PGAM5-
-
-
-
3GainND
PHB2-
-
-
-
3GainND
PHC1-
-
-
-
3GainND
PHETA1-
-
-
-
3GainND
PHF20L1-
-
-
-
4GainND
PHIPp.A516T
Missense
SNP
0.482
2-ND
PHKA1p.V54A
Missense
SNP
1.000
NDNDND
PHKG1p.N97S
Missense
SNP
0.442
2-ND
PHLDA1-
-
-
-
3GainND
PI15p.R78W
Missense
SNP
0.296
5AmpND
PIANP-
-
-
-
3GainND
PIK3C2G-
-
-
-
3GainND
PIK3R1p.R461*
Nonsense
SNP
0.667
2-ND
PIP4K2C-
-
-
-
3GainND
PIP4P2-
-
-
-
5AmpND
PIP5K1Ap.A201V
Missense
SNP
0.443
2-ND
PITPNM2-
-
-
-
3GainND
PIWIL1-
-
-
-
3GainND
PKHD1L1-
-
-
-
5AmpND
PKIA-
-
-
-
5AmpND
PKP2-
-
-
-
3GainND
PLA2G1B-
-
-
-
3GainND
PLA2G4Ep.R423C
Missense
SNP
0.518
2-ND
PLAC9-
-
-
-
1LossND
PLAG1-
-
-
-
5AmpND
PLBD1-
-
-
-
3GainND
PLBD2-
-
-
-
3GainND
PLCB3p.E502K
Missense
SNP
0.574
2-ND
PLCZ1-
-
-
-
3GainND
PLEC-
-
-
-
4GainND
PLEKHA5-
-
-
-
3GainND
PLEKHF2-
-
-
-
5AmpND
PLEKHG6-
-
-
-
3GainND
PLEKHG7-
-
-
-
3GainND
PLGp.M186I
Missense
SNP
0.493
2-ND
PLXNA2p.R1397C
Missense
SNP
0.491
2-ND
PLXNC1-
-
-
-
3GainND
PMCH-
-
-
-
3GainND
PMEL-
-
-
-
3GainND
PMLp.A263V
Missense
SNP
0.503
2-ND
PMP2-
-
-
-
5AmpND
PNLIPp.R128Q
Missense
SNP
0.527
2-ND
PNPLA5p.A91T
Missense
SNP
0.593
2-ND
POC1B-
-
-
-
3GainND
POC1B-GALNT4-
-
-
-
3GainND
POLE-
-
-
-
3GainND
POLR2K-
-
-
-
5AmpND
POLR3B-
-
-
-
3GainND
POP1-
-
-
-
5AmpND
POP5-
-
-
-
3GainND
PORp.R406H
Missense
SNP
0.481
2-ND
POTEB-
-
-
-
1LossND
POTEB2-
-
-
-
1LossND
POU5F1B-
-
-
-
4GainND
POU6F1p.R286L
Missense
SNP
0.392
3GainND
PPDPFL-
-
-
-
5AmpND
PPFIA2-
-
-
-
3GainND
PPFIBP1-
-
-
-
3GainND
PPHLN1-
-
-
-
3GainND
PPM1H-
-
-
-
3GainND
PPP1CC-
-
-
-
3GainND
PPP1R12A-
-
-
-
3GainND
PPP1R16A-
-
-
-
4GainND
PPP1R1A-
-
-
-
3GainND
PPP1R42-
-
-
-
5AmpND
PPP2R1Bp.A198T
Missense
SNP
0.447
2-ND
PPTC7-
-
-
-
3GainND
PRAG1-
-
-
-
1LossND
PRAMEF1-
-
-
-
1LossND
PRAMEF18-
-
-
-
1LossND
PRAMEF19-
-
-
-
1LossND
PRAMEF2-
-
-
-
1LossND
PRAMEF20-
-
-
-
1LossND
PRB1-
-
-
-
3GainND
PRB2-
-
-
-
3GainND
PRB3-
-
-
-
3GainND
PRB4-
-
-
-
3GainND
PRDM14-
-
-
-
5AmpND
PRDM4-
-
-
-
3GainND
PRDM9p.R758S
Missense
SNP
0.209
2-ND
PREX2-
-
-
-
5AmpND
PRH1-
-
-
-
3GainND
PRH1-PRR4-
-
-
-
3GainND
PRH2-
-
-
-
3GainND
PRICKLE1-
-
-
-
3GainND
PRIM1-
-
-
-
3GainND
PRKAB1-
-
-
-
3GainND
PRKAG1-
-
-
-
3GainND
PRKDC-
-
-
-
5AmpND
PRMT8-
-
-
-
3GainND
PRPF40B-
-
-
-
3GainND
PRPH-
-
-
-
3GainND
PRR13-
-
-
-
3GainND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PRR4-
-
-
-
3GainND
PRRX1p.A162T
Missense
SNP
0.471
2-ND
PRXL2A-
-
-
-
1LossND
PSCA-
-
-
-
4GainND
PSEN2p.G383R
Missense
SNP
0.440
2-ND
PSG3p.R12C
Missense
SNP
0.485
2-ND
PSKH2-
-
-
-
5AmpND
PSMD9-
-
-
-
3GainND
PSPNp.V31M
Missense
SNP
0.511
2-ND
PTCH2p.V468M
Missense
SNP
0.373
2-ND
PTDSS1-
-
-
-
5AmpND
PTGES3-
-
-
-
3GainND
PTGFRNp.R214H
Missense
SNP
0.473
2-ND
PTHLH-
-
-
-
3GainND
PTK2-
-
-
-
4GainND
PTMS-
-
-
-
3GainND
PTP4A3-
-
-
-
4GainND
PTPN1p.A423T
Missense
SNP
0.503
2-ND
PTPN11-
-
-
-
3GainND
PTPN6-
-
-
-
3GainND
PTPRB-
-
-
-
3GainND
PTPRO-
-
-
-
3GainND
PTPRQ-
-
-
-
3GainND
PTPRR-
-
-
-
3GainND
PTPRTp.R854C
Missense
SNP
0.509
2-ND
PUF60-
-
-
-
4GainND
PUS1-
-
-
-
3GainND
PUS7L-
-
-
-
3GainND
PWP1-
-
-
-
3GainND
PXDNL-
-
-
-
5AmpND
PXMP2-
-
-
-
3GainND
PXN-
-
-
-
3GainND
PYCR3-
-
-
-
4GainND
PYM1-
-
-
-
3GainND
PYROXD1-
-
-
-
3GainND
PZP-
-
-
-
3GainND
QSOX1p.A726V
Missense
SNP
0.467
2-ND
R3HDM2-
-
-
-
3GainND
R3HDM4p.A113T
Missense
SNP
0.414
2-ND
RAB21-
-
-
-
3GainND
RAB2A-
-
-
-
5AmpND
RAB35-
-
-
-
3GainND
RAB3IP-
-
-
-
3GainND
RAB5B-
-
-
-
3GainND
RABL6p.P166S
Missense
SNP
0.458
2-ND
RACGAP1-
-
-
-
3GainND
RAD21-
-
-
-
5AmpND
RAD51AP1-
-
-
-
3GainND
RAD51Cp.A87T
Missense
SNP
0.455
2-ND
RAD52-
-
-
-
3GainND
RAD54B-
-
-
-
5AmpND
RAD9B-
-
-
-
3GainND
RALYL-
-
-
-
5AmpND
RAN-
-
-
-
3GainND
RANBP17p.R1074C
Missense
SNP
0.539
2-ND
RAP1B-
-
-
-
3GainND
RAPGEF3-
-
-
-
3GainND
RARG-
-
-
-
3GainND
RASAL1-
-
-
-
3GainND
RASSF3-
-
-
-
3GainND
RASSF8-
-
-
-
3GainND
RASSF9-
-
-
-
3GainND
RB1CC1-
-
-
-
5AmpND
RBFAp.D240V
Missense
SNP
0.507
2-ND
RBM12B-
-
-
-
5AmpND
RBM19-
-
-
-
3GainND
RBM27p.P321H
Missense
SNP
0.509
2-ND
RBMS2-
-
-
-
3GainND
RBP5-
-
-
-
3GainND
RCBTB2p.R343Q
Missense
SNP
0.532
2-ND
RDH10-
-
-
-
5AmpND
RDH16-
-
-
-
3GainND
RDH5-
-
-
-
3GainND
RECQL-
-
-
-
3GainND
RECQL4-
-
-
-
4GainND
REEP3-
-
-
-
1LossND
RENBPp.G46V
Missense
SNP
1.000
NDNDND
REP15-
-
-
-
3GainND
RERG-
-
-
-
3GainND
RERGL-
-
-
-
3GainND
RFC5-
-
-
-
3GainND
RFLNA-
-
-
-
3GainND
RFX4-
-
-
-
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS20-
-
-
-
5AmpND
RGS22-
-
-
-
5AmpND
RHEBL1-
-
-
-
3GainND
RHNO1-
-
-
-
3GainND
RHOBTB2p.H242N
Missense
SNP
0.490
2-ND
RHOF-
-
-
-
3GainND
RHPN1-
-
-
-
4GainND
RIC8B-
-
-
-
3GainND
RIDA-
-
-
-
5AmpND
RILPL1-
-
-
-
3GainND
RILPL2-
-
-
-
3GainND
RIMBP2-
-
-
-
3GainND
RIMKLB-
-
-
-
3GainND
RIMS2p.P886S
Missense
SNP
0.232
5AmpND
RIOK1-
-
-
-
1LossND
RIPK2-
-
-
-
5AmpND
RITA1-
-
-
-
3GainND
RMDN1-
-
-
-
5AmpND
RND1-
-
-
-
3GainND
RNF10-
-
-
-
3GainND
RNF139-
-
-
-
4GainND
RNF19A-
-
-
-
5AmpND
RNF207p.V467I
Missense
SNP
0.447
2-ND
RNF34-
-
-
-
3GainND
RNF41-
-
-
-
3GainND
RNFT2-
-
-
-
3GainND
ROBO2p.R852H
Missense
SNP
0.441
2-ND
RP1-
-
-
-
5AmpND
RPAP3-
-
-
-
3GainND
RPH3A-
-
-
-
3GainND
RPL30-
-
-
-
5AmpND
RPL41-
-
-
-
3GainND
RPL6-
-
-
-
3GainND
RPL7-
-
-
-
5AmpND
RPL8-
-
-
-
4GainND
RPLP0-
-
-
-
3GainND
RPS20-
-
-
-
5AmpND
RPS26-
-
-
-
3GainND
RRBP1p.A781T
Missense
SNP
0.484
2-ND
RREB1-
-
-
-
1LossND
RRM2B-
-
-
-
5AmpND
RRS1-
-
-
-
5AmpND
RSPH3p.R199*
Nonsense
SNP
0.539
2-ND
RSPO2-
-
-
-
5AmpND
RSRC2-
-
-
-
3GainND
RUNX1T1-
-
-
-
5AmpND
RXRGp.R188C
Missense
SNP
0.503
2-ND
RXYLT1-
-
-
-
3GainND
SAMD12-
-
-
-
5AmpND
SARNP-
-
-
-
3GainND
SART3-
-
-
-
3GainND
SBNO1-
-
-
-
3GainND
SBSPON-
-
-
-
5AmpND
SCAF11-
-
-
-
3GainND
SCARB1-
-
-
-
3GainND
SCMH1p.R281W
Missense
SNP
0.540
2-ND
SCML2p.R75C
Missense
SNP
1.000
NDNDND
SCN1Ap.G884S
Missense
SNP
0.456
2-ND
SCN8A-
-
-
-
3GainND
SCNN1A-
-
-
-
3GainND
SCRIB-
-
-
-
4GainND
SCRT1-
-
-
-
4GainND
SCX-
-
-
-
4GainND
SCYL2-
-
-
-
3GainND
SDC2-
-
-
-
5AmpND
SDCBP-
-
-
-
5AmpND
SDK1p.A1744P
Missense
SNP
0.490
2-ND
SDR16C5-
-
-
-
5AmpND
SDR9C7-
-
-
-
3GainND
SDS-
-
-
-
3GainND
SDSL-
-
-
-
3GainND
SEL1L3p.W293*
Nonsense
SNP
0.452
2-ND
SELPLG-
-
-
-
3GainND
SEMA3A-
-
-
-
1LossND
SEMA3D-
-
-
-
1LossND
SEMA3E-
-
-
-
1LossND
SENP1-
-
-
-
3GainND
SEPT8p.A126V
Missense
SNP
0.441
2-ND
SESN1p.Y268C
Missense
SNP
0.507
2-ND
SESTD1p.S203L
Missense
SNP
0.364
2-ND
SETD1B-
-
-
-
3GainND
SEZ6Lp.G378S
Missense
SNP
0.488
2-ND
SF3B4-
-
-
-
1LossND
SFSWAP-
-
-
-
3GainND
SFTPA1-
-
-
-
1LossND
SFTPA2-
-
-
-
1LossND
SFTPD-
-
-
-
1LossND
SGK3-
-
-
-
5AmpND
SH2B3-
-
-
-
3GainND
SH2D4B-
-
-
-
1LossND
SHARPIN-
-
-
-
4GainND
SHEp.R420*
Nonsense
SNP
0.422
2-ND
SHMT2-
-
-
-
3GainND
SINHCAF-
-
-
-
3GainND
SIRT4-
-
-
-
3GainND
SLA-
-
-
-
4GainND
SLC10A5-
-
-
-
5AmpND
SLC11A2-
-
-
-
3GainND
SLC15A4-
-
-
-
3GainND
SLC15A5-
-
-
-
3GainND
SLC16A14-
-
-
-
1LossND
SLC16A7-
-
-
-
3GainND
SLC17A8-
-
-
-
3GainND
SLC22A3p.G445V
Missense
SNP
0.454
2-ND
SLC25A3-
-
-
-
3GainND
SLC25A32-
-
-
-
5AmpND
SLC26A10-
-
-
-
3GainND
SLC26A7-
-
-
-
5AmpND
SLC2A13-
-
-
-
3GainND
SLC2A14-
-
-
-
3GainND
SLC2A3-
-
-
-
3GainND
SLC30A8-
-
-
-
5AmpND
SLC35B3-
-
-
-
1LossND
SLC35E3-
-
-
-
3GainND
SLC38A1-
-
-
-
3GainND
SLC38A2-
-
-
-
3GainND
SLC38A4-
-
-
-
3GainND
SLC39A4-
-
-
-
4GainND
SLC39A5-
-
-
-
3GainND
SLC41A2-
-
-
-
3GainND
SLC45A4-
-
-
-
4GainND
SLC48A1-
-
-
-
3GainND
SLC4A2p.R285Q
Missense
SNP
0.466
2-ND
SLC4A8-
-
-
-
3GainND
SLC52A2-
-
-
-
4GainND
SLC5A8-
-
-
-
3GainND
SLC6A12-
-
-
-
3GainND
SLC6A13-
-
-
-
3GainND
SLC6A15-
-
-
-
3GainND
SLC7A13-
-
-
-
5AmpND
SLC8B1-
-
-
-
3GainND
SLCO1A2-
-
-
-
3GainND
SLCO1B1-
-
-
-
3GainND
SLCO1B3-
-
-
-
3GainND
SLCO1B7-
-
-
-
3GainND
SLCO1C1-
-
-
-
3GainND
SLCO5A1-
-
-
-
5AmpND
SLFNL1p.Y246C
Missense
SNP
0.498
2-ND
SLITRK1-
-
-
-
3GainND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SLURP1-
-
-
-
4GainND
SLURP2-
-
-
-
4GainND
SLX4p.A748T
Missense
SNP
0.412
2-ND
SMAGP-
-
-
-
3GainND
SMARCC2-
-
-
-
3GainND
SMARCD1-
-
-
-
3GainND
SMCO2-
-
-
-
3GainND
SMCO3-
-
-
-
3GainND
SMIM8p.R35C
Missense
SNP
0.478
2-ND
SMUG1-
-
-
-
3GainND
SNAI2-
-
-
-
5AmpND
SNRNP35-
-
-
-
3GainND
SNRNP48-
-
-
-
1LossND
SNRPF-
-
-
-
3GainND
SNTB1-
-
-
-
5AmpND
SNTG1-
-
-
-
5AmpND
SNX16-
-
-
-
5AmpND
SNX31-
-
-
-
5AmpND
SOAT2-
-
-
-
3GainND
SOCS2-
-
-
-
3GainND
SOX11p.R51W
Missense
SNP
0.484
2-ND
SOX17p.F155S
Missense
SNP
0.249
5AmpND
SOX5-
-
-
-
3GainND
SP1-
-
-
-
3GainND
SP100-
-
-
-
1LossND
SP110-
-
-
-
1LossND
SP140-
-
-
-
1LossND
SP140L-
-
-
-
1LossND
SP7-
-
-
-
3GainND
SPAG1-
-
-
-
5AmpND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPATC1-
-
-
-
4GainND
SPATS2-
-
-
-
3GainND
SPCS1-
-
-
-
3GainND
SPIC-
-
-
-
3GainND
SPIDR-
-
-
-
5AmpND
SPPL3-
-
-
-
3GainND
SPRYD3-
-
-
-
3GainND
SPRYD4-
-
-
-
3GainND
SPSB2-
-
-
-
3GainND
SPTA1p.W702C
Missense
SNP
0.429
2-ND
SPX-
-
-
-
3GainND
SQLE-
-
-
-
4GainND
SRGAP1-
-
-
-
3GainND
SRRM4-
-
-
-
3GainND
SRSF9-
-
-
-
3GainND
SSH1-
-
-
-
3GainND
SSPN-
-
-
-
3GainND
SSR1-
-
-
-
1LossND
ST18-
-
-
-
5AmpND
ST3GAL1-
-
-
-
4GainND
ST8SIA1-
-
-
-
3GainND
STAB2-
-
-
-
3GainND
STAC3-
-
-
-
3GainND
STAT2-
-
-
-
3GainND
STAT6-
-
-
-
3GainND
STAU2-
-
-
-
5AmpND
STC2p.S75P
Missense
SNP
0.482
2-ND
STK3-
-
-
-
5AmpND
STK38L-
-
-
-
3GainND
STMN2-
-
-
-
5AmpND
STRAP-
-
-
-
3GainND
STX2-
-
-
-
3GainND
STYK1-
-
-
-
3GainND
SUDS3-
-
-
-
3GainND
SULF1-
-
-
-
5AmpND
SUOX-
-
-
-
3GainND
SUPT3Hp.R303H
Missense
SNP
0.512
2-ND
SV2A-
-
-
-
1LossND
SVOP-
-
-
-
3GainND
SYBU-
-
-
-
5AmpND
SYCP3-
-
-
-
3GainND
SYT1-
-
-
-
3GainND
SYT10-
-
-
-
3GainND
TAC3-
-
-
-
3GainND
TAF2-
-
-
-
5AmpND
TAOK3p.R693*
Nonsense
SNP
0.626
3GainND
TAPBPL-
-
-
-
3GainND
TARBP2-
-
-
-
3GainND
TAS1R1p.V225M
Missense
SNP
0.517
2-ND
TAS2R10-
-
-
-
3GainND
TAS2R13-
-
-
-
3GainND
TAS2R14-
-
-
-
3GainND
TAS2R19-
-
-
-
3GainND
TAS2R20-
-
-
-
3GainND
TAS2R30-
-
-
-
3GainND
TAS2R31-
-
-
-
3GainND
TAS2R42-
-
-
-
3GainND
TAS2R46-
-
-
-
3GainND
TAS2R50-
-
-
-
3GainND
TAS2R7-
-
-
-
3GainND
TAS2R8-
-
-
-
3GainND
TAS2R9-
-
-
-
3GainND
TATDN1-
-
-
-
4GainND
TBC1D15-
-
-
-
3GainND
TBC1D30-
-
-
-
3GainND
TBC1D31-
-
-
-
5AmpND
TBK1-
-
-
-
3GainND
TBX5p.G363V
Missense
SNP
0.696
2-ND
TCEA1-
-
-
-
5AmpND
TCF24-
-
-
-
5AmpND
TCHP-
-
-
-
3GainND
TCP11L2-
-
-
-
3GainND
TCTN1-
-
-
-
3GainND
TCTN2-
-
-
-
3GainND
TDG-
-
-
-
3GainND
TEAD4-
-
-
-
3GainND
TERF1-
-
-
-
5AmpND
TESC-
-
-
-
3GainND
TESPA1-
-
-
-
3GainND
TEX49-
-
-
-
3GainND
TEX52-
-
-
-
3GainND
TFCP2-
-
-
-
3GainND
TGp.F1417L
Missense
SNP
0.262
4GainND
TGFBR2p.L375P
Missense
SNP
0.431
2-ND
TGM3p.D396N
Missense
SNP
0.507
2-ND
TGS1-
-
-
-
5AmpND
THAP2-
-
-
-
3GainND
THBS4p.R289W
Missense
SNP
0.516
2-ND
THEM6-
-
-
-
4GainND
TIGAR-
-
-
-
3GainND
TIGD5-
-
-
-
4GainND
TIMELESS-
-
-
-
3GainND
TKFCp.D403N
Missense
SNP
0.497
2-ND
TM7SF3-
-
-
-
3GainND
TMBIM4-
-
-
-
3GainND
TMBIM6-
-
-
-
3GainND
TMCC3-
-
-
-
3GainND
TMED2-
-
-
-
3GainND
TMEM106C-
-
-
-
3GainND
TMEM116-
-
-
-
3GainND
TMEM117-
-
-
-
3GainND
TMEM119-
-
-
-
3GainND
TMEM120B-
-
-
-
3GainND
TMEM132B-
-
-
-
3GainND
TMEM132C-
-
-
-
3GainND
TMEM132D-
-
-
-
3GainND
TMEM19-
-
-
-
3GainND
TMEM233-
-
-
-
3GainND
TMEM249-
-
-
-
4GainND
TMEM254-
-
-
-
1LossND
TMEM263-
-
-
-
3GainND
TMEM52B-
-
-
-
3GainND
TMEM64-
-
-
-
5AmpND
TMEM65-
-
-
-
4GainND
TMEM67-
-
-
-
5AmpND
TMEM68-
-
-
-
5AmpND
TMEM70-
-
-
-
5AmpND
TMEM71-
-
-
-
4GainND
TMEM74-
-
-
-
5AmpND
TMPO-
-
-
-
3GainND
TMPRSS12-
-
-
-
3GainND
TMTC1p.A160V
Missense
SNP
0.348
3GainND
TMTC2-
-
-
-
3GainND
TMTC3-
-
-
-
3GainND
TNFRSF11B-
-
-
-
5AmpND
TNFRSF1A-
-
-
-
3GainND
TNS2-
-
-
-
3GainND
TONSL-
-
-
-
4GainND
TOP1MT-
-
-
-
4GainND
TOX-
-
-
-
5AmpND
TP53p.R273C
Missense
SNP
0.600
2-ND
TP53INP1-
-
-
-
5AmpND
TPCN1-
-
-
-
3GainND
TPD52-
-
-
-
5AmpND
TPH2-
-
-
-
3GainND
TPI1-
-
-
-
3GainND
TRAFD1-
-
-
-
3GainND
TRAM1-
-
-
-
5AmpND
TRAPPC9-
-
-
-
4GainND
TRHDE-
-
-
-
3GainND
TRHR-
-
-
-
5AmpND
TRIAP1-
-
-
-
3GainND
TRIB1-
-
-
-
4GainND
TRIM11p.P396A
Missense
SNP
0.459
2-ND
TRIM55-
-
-
-
5AmpND
TRIM62p.A460T
Missense
SNP
0.513
2-ND
TRIP12-
-
-
-
1LossND
TRIQK-
-
-
-
5AmpND
TRMT12-
-
-
-
4GainND
TROAP-
-
-
-
3GainND
TRPA1-
-
-
-
5AmpND
TRPS1-
-
-
-
5AmpND
TRPV4-
-
-
-
3GainND
TSFM-
-
-
-
3GainND
TSNARE1-
-
-
-
4GainND
TSPAN11-
-
-
-
3GainND
TSPAN14-
-
-
-
1LossND
TSPAN19-
-
-
-
3GainND
TSPAN31-
-
-
-
3GainND
TSPAN8-
-
-
-
3GainND
TSPAN9-
-
-
-
3GainND
TSPOAP1p.R1705L
Missense
SNP
0.478
2-ND
TSPYL5-
-
-
-
5AmpND
TSTA3-
-
-
-
4GainND
TTPA-
-
-
-
5AmpND
TUBA1A-
-
-
-
3GainND
TUBA1B-
-
-
-
3GainND
TUBA1C-
-
-
-
3GainND
TULP3-
-
-
-
3GainND
TWF1-
-
-
-
3GainND
TXNDC5-
-
-
-
1LossND
TXNRD1-
-
-
-
3GainND
UBC-
-
-
-
3GainND
UBE2E1p.S37N
Missense
SNP
0.534
2-ND
UBE2N-
-
-
-
3GainND
UBE2V2-
-
-
-
5AmpND
UBE2W-
-
-
-
5AmpND
UBE3B-
-
-
-
3GainND
UBR5-
-
-
-
5AmpND
UBXN2B-
-
-
-
5AmpND
UHRF1BP1L-
-
-
-
3GainND
ULK1-
-
-
-
3GainND
UMODp.T427M
Missense
SNP
0.554
2-ND
UNC119B-
-
-
-
3GainND
UNG-
-
-
-
3GainND
UQCRB-
-
-
-
5AmpND
USP15-
-
-
-
3GainND
USP17L1-
-
-
-
1LossND
USP17L3-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP17L8-
-
-
-
1LossND
USP30-
-
-
-
3GainND
USP44-
-
-
-
3GainND
USP5-
-
-
-
3GainND
UTP20-
-
-
-
3GainND
UTP23-
-
-
-
5AmpND
VAMP1-
-
-
-
3GainND
VCANp.R3188H
Missense
SNP
0.432
2-ND
VCPIP1-
-
-
-
5AmpND
VDR-
-
-
-
3GainND
VEZT-
-
-
-
3GainND
VIPp.G159R
Missense
SNP
0.460
2-ND
VIRMA-
-
-
-
5AmpND
VITp.D565N
Missense
SNP
0.525
2-ND
VPS13B-
-
-
-
5AmpND
VPS28-
-
-
-
4GainND
VPS29-
-
-
-
3GainND
VPS33A-
-
-
-
3GainND
VPS37B-
-
-
-
3GainND
VSIG10-
-
-
-
3GainND
VWFp.P2776L
Missense
SNP
0.246
3GainND
VXN-
-
-
-
5AmpND
WARS2p.V272M
Missense
SNP
0.510
2-ND
WASHC3-
-
-
-
3GainND
WASHC4-
-
-
-
3GainND
WASHC5-
-
-
-
4GainND
WBP11-
-
-
-
3GainND
WDR66-
-
-
-
3GainND
WDR87p.P1321H
Missense
SNP
0.498
2-ND
WDR90p.A989T
Missense
SNP
0.514
2-ND
WDR97-
-
-
-
4GainND
WDYHV1-
-
-
-
4GainND
WIF1-
-
-
-
3GainND
WISP1-
-
-
-
4GainND
WNK1-
-
-
-
3GainND
WNT1-
-
-
-
3GainND
WNT10B-
-
-
-
3GainND
WNT5B-
-
-
-
3GainND
WSB2-
-
-
-
3GainND
WSCD2-
-
-
-
3GainND
WWP1-
-
-
-
5AmpND
XKR4-
-
-
-
5AmpND
XKR9-
-
-
-
5AmpND
XPOT-
-
-
-
3GainND
YAF2-
-
-
-
3GainND
YARS2-
-
-
-
3GainND
YBX3-
-
-
-
3GainND
YEATS4-
-
-
-
3GainND
YTHDF3-
-
-
-
5AmpND
YWHAZ-
-
-
-
5AmpND
ZBTB10-
-
-
-
5AmpND
ZBTB20p.V240M
p.R191C
Missense
Missense
SNP
SNP
0.498
0.449
2-ND
ZBTB39-
-
-
-
3GainND
ZC2HC1A-
-
-
-
5AmpND
ZC3H10-
-
-
-
3GainND
ZC3H13p.R531*
Nonsense
SNP
0.473
2-ND
ZC3H3-
-
-
-
4GainND
ZCCHC8-
-
-
-
3GainND
ZCRB1-
-
-
-
3GainND
ZDHHC17-
-
-
-
3GainND
ZFAND1-
-
-
-
5AmpND
ZFAT-
-
-
-
4GainND
ZFC3H1-
-
-
-
3GainND
ZFHX4-
-
-
-
5AmpND
ZFP14p.A26V
Missense
SNP
0.424
2-ND
ZFP41-
-
-
-
4GainND
ZFP64p.T576M
Missense
SNP
0.538
2-ND
ZFPM2-
-
-
-
5AmpND
ZHX1-
-
-
-
4GainND
ZHX1-C8orf76-
-
-
-
4GainND
ZHX2-
-
-
-
5AmpND
ZKSCAN3p.R46H
Missense
SNP
0.509
2-ND
ZNF107-
-
-
-
1LossND
ZNF117-
-
-
-
1LossND
ZNF138-
-
-
-
1LossND
ZNF16-
-
-
-
4GainND
ZNF208p.D22N
Missense
SNP
0.132
NDNDND
ZNF250-
-
-
-
4GainND
ZNF251p.K431N
Missense
SNP
0.690
4GainND
ZNF273-
-
-
-
1LossND
ZNF280Dp.R476C
Missense
SNP
0.387
2-ND
ZNF319p.A567T
Missense
SNP
0.525
2-ND
ZNF34-
-
-
-
4GainND
ZNF384-
-
-
-
3GainND
ZNF385A-
-
-
-
3GainND
ZNF517-
-
-
-
4GainND
ZNF572-
-
-
-
4GainND
ZNF605-
-
-
-
3GainND
ZNF623-
-
-
-
4GainND
ZNF641-
-
-
-
3GainND
ZNF664-
-
-
-
3GainND
ZNF668p.V152M
Missense
SNP
0.475
2-ND
ZNF679-
-
-
-
1LossND
ZNF680-
-
-
-
1LossND
ZNF696-
-
-
-
4GainND
ZNF7-
-
-
-
4GainND
ZNF704-
-
-
-
5AmpND
ZNF705A-
-
-
-
3GainND
ZNF706-
-
-
-
5AmpND
ZNF707-
-
-
-
4GainND
ZNF727-
-
-
-
1LossND
ZNF735-
-
-
-
1LossND
ZNF736-
-
-
-
1LossND
ZNF740-
-
-
-
3GainND
ZNF746p.R565Q
Missense
SNP
0.587
2-ND
ZNF76p.R247H
Missense
SNP
0.420
2-ND
ZNF775p.G315S
Missense
SNP
0.448
2-ND