PDMR-625472~104-R~H69-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCA13-
-
-
-
3Gain-
ABCA8p.V667M
Missense
SNP
0.475
2--
ABCB1-
-
-
-
3Gain-
ABCB10-
-
-
-
5Amp-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCC4-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD13-
-
-
-
3Gain-
ABHD3-
-
-
-
3Gain-
ABL2-
-
-
-
4Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC001226.2-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3GainAC004922.1--AC007952.4
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007952.4-
-
-
-
NDNDAC004922.1--AC007952.4
AC007998.2-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
AC092017.3-
-
-
-
5Amp-
AC092647.5-
-
-
-
3Gain-
AC093668.1-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC118470.1-
-
-
-
5Amp-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
5Amp-
ACAA2-
-
-
-
3Gain-
ACBD3-
-
-
-
5Amp-
ACBD6-
-
-
-
5Amp-
ACCSp.V202M
Missense
SNP
0.462
2--
ACHEp.R250W
Missense
SNP
0.322
3Gain-
ACKR1-
-
-
-
4Gain-
ACOD1-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACTA1-
-
-
-
5Amp-
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTL9p.G314S
Missense
SNP
0.583
2--
ACTN2-
-
-
-
5Amp-
ADAM12p.G610*
Nonsense
SNP
0.542
2--
ADAM15-
-
-
-
4Gain-
ADAM18p.F70V
Missense
SNP
0.491
2--
ADAM22-
-
-
-
3Gain-
ADAMTS4-
-
-
-
4Gain-
ADAMTS5p.R170C
Missense
SNP
0.553
2--
ADAMTSL4-
-
-
-
5Amp-
ADAP1-
-
-
-
3Gain-
ADARp.A198V
Missense
SNP
0.248
4Gain-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
4Gain-
ADCY2p.A87V
Missense
SNP
0.543
2--
ADCYAP1-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADIPOR1-
-
-
-
5Amp-
ADNP2-
-
-
-
3Gain-
ADORA1-
-
-
-
5Amp-
ADPRHL1-
-
-
-
3Gain-
ADSS-
-
-
-
5Amp-
AEBP1-
-
-
-
3Gain-
AFG3L2-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGT-
-
-
-
5Amp-
AGXTp.S205L
Missense
SNP
0.451
2--
AHCTF1-
-
-
-
5Amp-
AHR-
-
-
-
3Gain-
AIDA-
-
-
-
5Amp-
AIM2-
-
-
-
4Gain-
AIMP2-
-
-
-
3Gain-
AKAIN1-
-
-
-
3Gain-
AKAP11-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
AKT3-
-
-
-
5Amp-
AL117348.2-
-
-
-
5Amp-
AL139011.2-
-
-
-
4Gain-
AL139142.2-
-
-
-
4Gain-
AL162377.3-
-
-
-
3Gain-
AL358472.6-
-
-
-
4Gain-
AL358472.7-
-
-
-
4Gain-
AL359736.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
3Gain-
AL512785.2-
-
-
-
4Gain-
AL590132.1-
-
-
-
5Amp-
AL591806.3-
-
-
-
4Gain-
AL592490.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
4Gain-
AL713999.1-
-
-
-
4Gain-
ALDH9A1-
-
-
-
4Gain-
ALG11-
-
-
-
3Gain-
ALG5-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
ALOX5AP-
-
-
-
3Gain-
ALPK2-
-
-
-
3Gain-
AMER2-
-
-
-
3Gain-
AMIGO1p.E79K
Missense
SNP
0.114
2--
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANGEL2-
-
-
-
5Amp-
ANGPTL1-
-
-
-
4Gain-
ANK3p.T814N
Missense
SNP
0.597
2--
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD12-
-
-
-
3Gain-
ANKRD28p.R175C
Missense
SNP
0.489
2--
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
5Amp-
ANKRD35-
-
-
-
5Amp-
ANKRD39p.D61N
Missense
SNP
0.472
2--
ANKRD45-
-
-
-
4Gain-
ANKRD52p.S817L
Missense
SNP
0.497
2--
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANP32E-
-
-
-
5Amp-
ANXA10p.X66_splice
Splice_Site
SNP
0.537
2--
ANXA13p.R341C
Missense
SNP
0.516
2--
ANXA9-
-
-
-
5Amp-
AOAH-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APCDD1-
-
-
-
3Gain-
APCS-
-
-
-
4Gain-
APH1A-
-
-
-
5Amp-
APOA2-
-
-
-
4Gain-
APOBEC4-
-
-
-
5Amp-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
4Gain-
AQP4-
-
-
-
3Gain-
ARF1-
-
-
-
5Amp-
ARGLU1-
-
-
-
3Gain-
ARHGAP28-
-
-
-
3Gain-
ARHGAP30-
-
-
-
4Gain-
ARHGEF11-
-
-
-
4Gain-
ARHGEF15p.L709I
Missense
SNP
0.542
2--
ARHGEF2-
-
-
-
4Gain-
ARHGEF5-
-
-
-
1Loss-
ARHGEF7-
-
-
-
3Gain-
ARID4B-
-
-
-
5Amp-
ARIH1p.R429H
Missense
SNP
0.500
2--
ARL11-
-
-
-
3Gain-
ARL4A-
-
-
-
3Gain-
ARL8A-
-
-
-
5Amp-
ARMC10-
-
-
-
3Gain-
ARNT-
-
-
-
5Amp-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC5-
-
-
-
5Amp-
ARV1-
-
-
-
5Amp-
ASB4-
-
-
-
3Gain-
ASH1L-
-
-
-
4Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPM-
-
-
-
5Amp-
ASTN1-
-
-
-
4Gain-
ASXL1p.R1068Q
Missense
SNP
0.508
2--
ASXL3-
-
-
-
3Gain-
ATF3-
-
-
-
5Amp-
ATF6p.C380Y
Missense
SNP
0.265
4Gain-
ATP11A-
-
-
-
3Gain-
ATP12A-
-
-
-
3Gain-
ATP1A2-
-
-
-
4Gain-
ATP1A4-
-
-
-
4Gain-
ATP1B1-
-
-
-
4Gain-
ATP2B4-
-
-
-
5Amp-
ATP4B-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
5Amp-
ATP7B-
-
-
-
3Gain-
ATP8A2-
-
-
-
3Gain-
ATP8B1-
-
-
-
3Gain-
ATP8B2-
-
-
-
4Gain-
ATP9B-
-
-
-
3Gain-
ATRNL1p.R814H
Missense
SNP
0.463
2--
ATXN7L1-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1B-
-
-
-
5Amp-
AXDND1-
-
-
-
4Gain-
AZGP1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
5Amp-
B3GALT2-
-
-
-
5Amp-
B3GLCT-
-
-
-
3Gain-
B4GALT3-
-
-
-
4Gain-
B4GALT6-
-
-
-
3Gain-
BAIAP2p.G301S
Missense
SNP
0.464
2--
BAIAP2L1-
-
-
-
3Gain-
BATF3-
-
-
-
5Amp-
BAZ1B-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAN-
-
-
-
4Gain-
BCAP29-
-
-
-
3Gain-
BCL2-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCORp.R1514*
Nonsense
SNP
1.000
NDND-
BCORL1p.Q798*
Nonsense
SNP
0.993
NDND-
BET1-
-
-
-
3Gain-
BGLAP-
-
-
-
4Gain-
BHLHA15-
-
-
-
3Gain-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLOC1S5p.R74*
Nonsense
SNP
0.425
2--
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
4Gain-
BMPER-
-
-
-
3Gain-
BNIPL-
-
-
-
5Amp-
BOD1L2-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BORA-
-
-
-
3Gain-
BPNT1-
-
-
-
5Amp-
BRAFp.V600E
Missense
SNP
1.000
2--
BRAT1-
-
-
-
3Gain-
BRCA2-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRINP2-
-
-
-
4Gain-
BRINP3-
-
-
-
6Amp-
BROX-
-
-
-
5Amp-
BTG2-
-
-
-
5Amp-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
5Amp-
C1orf105-
-
-
-
4Gain-
C1orf112-
-
-
-
4Gain-
C1orf115-
-
-
-
5Amp-
C1orf116-
-
-
-
5Amp-
C1orf131-
-
-
-
5Amp-
C1orf189-
-
-
-
4Gain-
C1orf198-
-
-
-
5Amp-
C1orf21-
-
-
-
5Amp-
C1orf226-
-
-
-
4Gain-
C1orf35-
-
-
-
5Amp-
C1orf43-
-
-
-
4Gain-
C1orf53-
-
-
-
5Amp-
C1orf54-
-
-
-
5Amp-
C1orf56-
-
-
-
5Amp-
C1orf61-
-
-
-
4Gain-
C1orf68-
-
-
-
4Gain-
C1orf74-
-
-
-
5Amp-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C2CD4D-
-
-
-
5Amp-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
5Amp-
C4BPB-
-
-
-
5Amp-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
CA14-
-
-
-
5Amp-
CAB39L-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNA1Bp.R195H
Missense
SNP
0.155
2--
CACNA1Cp.Y1234C
Missense
SNP
0.451
2--
CACNA1E-
-
-
-
5Amp-
CACNA1S-
-
-
-
5Amp-
CACNA2D1-
-
-
-
3Gain-
CACNG2p.P264S
Missense
SNP
0.437
2--
CACNG5p.G229C
Missense
SNP
0.549
2--
CACYBP-
-
-
-
4Gain-
CADM3-
-
-
-
4Gain-
CALCR-
-
-
-
3Gain-
CALML3p.M73V
Missense
SNP
0.538
2--
CALN1-
-
-
-
3Gain-
CAMK1G-
-
-
-
5Amp-
CAMK2B-
-
-
-
3Gain-
CAMSAP2-
-
-
-
5Amp-
CAPN2-
-
-
-
5Amp-
CAPN8-
-
-
-
5Amp-
CAPN9-
-
-
-
5Amp-
CARD11-
-
-
-
3Gain-
CARS2-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASQ1-
-
-
-
4Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPERE-
-
-
-
5Amp-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CCBE1-
-
-
-
3Gain-
CCDC102B-
-
-
-
3Gain-
CCDC122-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC168-
-
-
-
3Gain-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC178-
-
-
-
3Gain-
CCDC181-
-
-
-
4Gain-
CCDC185-
-
-
-
5Amp-
CCDC190-
-
-
-
4Gain-
CCDC68-
-
-
-
3Gain-
CCDC70-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC88Bp.G1153D
Missense
SNP
0.494
2--
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNA1-
-
-
-
3Gain-
CCND3p.P284L
Missense
SNP
1.000
2--
CCSAP-
-
-
-
5Amp-
CCT3-
-
-
-
4Gain-
CCT6A-
-
-
-
3Gain-
CCT8L2p.V392I
Missense
SNP
0.503
2--
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD160-
-
-
-
5Amp-
CD1A-
-
-
-
4Gain-
CD1B-
-
-
-
4Gain-
CD1C-
-
-
-
4Gain-
CD1D-
-
-
-
4Gain-
CD1E-
-
-
-
4Gain-
CD226-
-
-
-
3Gain-
CD244-
-
-
-
4Gain-
CD247-
-
-
-
4Gain-
CD34-
-
-
-
5Amp-
CD36-
-
-
-
3Gain-
CD46-
-
-
-
5Amp-
CD48-
-
-
-
4Gain-
CD55-
-
-
-
5Amp-
CD5L-
-
-
-
4Gain-
CD84-
-
-
-
4Gain-
CDADC1-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC42BPA-
-
-
-
5Amp-
CDC42BPBp.E1315K
Missense
SNP
0.451
2--
CDC42SE1-
-
-
-
5Amp-
CDC73-
-
-
-
5Amp-
CDCA7L-
-
-
-
3Gain-
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH7-
-
-
-
3Gain-
CDHR3-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK18-
-
-
-
5Amp-
CDK6-
-
-
-
3Gain-
CDK8-
-
-
-
3Gain-
CDKN2Ap.D84N
Missense
SNP
0.431
2--
CDR2Lp.R215W
Missense
SNP
0.476
2--
CDX2-
-
-
-
3Gain-
CELF3-
-
-
-
5Amp-
CELF4-
-
-
-
3Gain-
CELSR1p.G1927S
Missense
SNP
0.517
2--
CENPF-
-
-
-
5Amp-
CENPJ-
-
-
-
3Gain-
CENPL-
-
-
-
4Gain-
CENPTp.L226M
Missense
SNP
0.532
2--
CEP170-
-
-
-
5Amp-
CEP192-
-
-
-
3Gain-
CEP350-
-
-
-
4Gain-
CEP76-
-
-
-
3Gain-
CERS2-
-
-
-
5Amp-
CETN1-
-
-
-
3Gain-
CFAP126-
-
-
-
4Gain-
CFAP45-
-
-
-
4Gain-
CFAP53-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFH-
-
-
-
5Amp-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
5Amp-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
5Amp-
CFHR5-
-
-
-
5Amp-
CGAp.T135M
Missense
SNP
0.529
2--
CGN-
-
-
-
5Amp-
CHAMP1-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHI3L1-
-
-
-
5Amp-
CHIT1-
-
-
-
5Amp-
CHML-
-
-
-
5Amp-
CHMP1B-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHRM3-
-
-
-
5Amp-
CHRNB2-
-
-
-
4Gain-
CHST12-
-
-
-
3Gain-
CHST9-
-
-
-
3Gain-
CHTOP-
-
-
-
4Gain-
CIART-
-
-
-
5Amp-
CIDEA-
-
-
-
3Gain-
CISHp.P259S
Missense
SNP
0.561
2--
CKAP2-
-
-
-
3Gain-
CKS1B-
-
-
-
4Gain-
CLDN10-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK2-
-
-
-
4Gain-
CLN5-
-
-
-
3Gain-
CLUL1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNIH3-
-
-
-
5Amp-
CNIH4-
-
-
-
5Amp-
CNMD-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNST-
-
-
-
5Amp-
CNTN2-
-
-
-
5Amp-
CNTNAP4p.X445_splice
Splice_Site
SNP
0.385
2--
COA1-
-
-
-
3Gain-
COA6-
-
-
-
5Amp-
COBL-
-
-
-
3Gain-
COG2-
-
-
-
5Amp-
COG3-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COL1A2-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL5A1p.P1436L
Missense
SNP
0.508
2--
COL6A6p.E172*
Nonsense
SNP
0.515
2--
COLEC12-
-
-
-
3Gain-
COLGALT2-
-
-
-
5Amp-
COMMD6-
-
-
-
3Gain-
COP1-
-
-
-
4Gain-
COPA-
-
-
-
4Gain-
COPG1p.R204H
Missense
SNP
0.533
2--
COPS6-
-
-
-
3Gain-
COQ8A-
-
-
-
5Amp-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
5Amp-
CPB2-
-
-
-
3Gain-
CPLX4-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPT1Cp.S705*
Nonsense
SNP
0.455
2--
CPVL-
-
-
-
3Gain-
CR1-
-
-
-
5Amp-
CR1L-
-
-
-
5Amp-
CR2-
-
-
-
5Amp-
CRABP2-
-
-
-
4Gain-
CRB1-
-
-
-
5Amp-
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
4Gain-
CREB3L4-
-
-
-
4Gain-
CREB5-
-
-
-
3Gain-
CREG1-
-
-
-
4Gain-
CRHR2-
-
-
-
3Gain-
CRNN-
-
-
-
6Amp-
CROT-
-
-
-
3Gain-
CRP-
-
-
-
4Gain-
CRTC1p.A298T
Missense
SNP
0.495
2--
CRTC2-
-
-
-
4Gain-
CRYL1-
-
-
-
3Gain-
CSNK1A1L-
-
-
-
3Gain-
CSRP1-
-
-
-
5Amp-
CTAGE1-
-
-
-
3Gain-
CTAGE8-
-
-
-
1Loss-
CTDP1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTSE-
-
-
-
5Amp-
CTSK-
-
-
-
5Amp-
CTSS-
-
-
-
5Amp-
CUL4A-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CXXC1-
-
-
-
3Gain-
CYB5A-
-
-
-
3Gain-
CYB5R1-
-
-
-
5Amp-
CYCS-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYSLTR2-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DACH1-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DAP3-
-
-
-
4Gain-
DARS2-
-
-
-
4Gain-
DBF4-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DCAF6-
-
-
-
4Gain-
DCAF8-
-
-
-
4Gain-
DCC-
-
-
-
3Gain-
DCLK1-
-
-
-
3Gain-
DCST1-
-
-
-
4Gain-
DCST2-
-
-
-
4Gain-
DCT-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDR2-
-
-
-
4Gain-
DDX56-
-
-
-
3Gain-
DDX59-
-
-
-
5Amp-
DEDD-
-
-
-
4Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
5Amp-
DENND1B-
-
-
-
5Amp-
DENND4B-
-
-
-
4Gain-
DESI2-
-
-
-
5Amp-
DGKB-
-
-
-
3Gain-
DGKH-
-
-
-
3Gain-
DHRS12-
-
-
-
3Gain-
DHX9-
-
-
-
5Amp-
DIAPH3-
-
-
-
3Gain-
DIO3p.A135V
Missense
SNP
0.466
2--
DIRAS2p.R73W
Missense
SNP
0.522
2--
DIS3-
-
-
-
3Gain-
DISC1-
-
-
-
5Amp-
DISP1-
-
-
-
5Amp-
DKK2p.H209N
Missense
SNP
0.475
2--
DLD-
-
-
-
3Gain-
DLEU7-
-
-
-
3Gain-
DLGAP1-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH14-
-
-
-
5Amp-
DNAH17p.L751V
Missense
SNP
0.497
2--
DNAJB9-
-
-
-
3Gain-
DNAJC13p.P1869S
Missense
SNP
0.431
2--
DNAJC15-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC3-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNM3-
-
-
-
4Gain-
DNMT3Ap.R143Q
Missense
SNP
0.571
2--
DOCK2p.R488C
Missense
SNP
0.433
2--
DOCK9-
-
-
-
3Gain-
DOK6-
-
-
-
3Gain-
DPM3-
-
-
-
4Gain-
DPT-
-
-
-
4Gain-
DPY19L1-
-
-
-
3Gain-
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSTYK-
-
-
-
5Amp-
DTL-
-
-
-
5Amp-
DTNA-
-
-
-
3Gain-
DTWD2p.G128D
Missense
SNP
0.483
2--
DTX2-
-
-
-
3Gain-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
5Amp-
DUSP12-
-
-
-
4Gain-
DUSP23-
-
-
-
4Gain-
DUSP27-
-
-
-
4Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1I1-
-
-
-
3Gain-
DYRK3-
-
-
-
5Amp-
DZIP1-
-
-
-
3Gain-
EBPL-
-
-
-
3Gain-
ECM1-
-
-
-
5Amp-
EDARADD-
-
-
-
5Amp-
EDEM3-
-
-
-
5Amp-
EDNRB-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB2-
-
-
-
5Amp-
EFCC1p.A147T
Missense
SNP
0.535
2--
EFNA1-
-
-
-
4Gain-
EFNA3-
-
-
-
4Gain-
EFNA4-
-
-
-
4Gain-
EFNB1p.R71W
Missense
SNP
1.000
NDND-
EFNB2-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
5Amp-
EHBP1L1p.A1012E
Missense
SNP
0.638
2--
EIF2AK1-
-
-
-
3Gain-
EIF2D-
-
-
-
5Amp-
EIF3B-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
ELAC1-
-
-
-
3Gain-
ELF1-
-
-
-
3Gain-
ELF3-
-
-
-
5Amp-
ELFN1-
-
-
-
3Gain-
ELK4-
-
-
-
5Amp-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOA2-
-
-
-
3Gain-
ELP2-
-
-
-
3Gain-
EMILIN2-
-
-
-
3Gain-
ENAH-
-
-
-
5Amp-
ENOSF1-
-
-
-
3Gain-
ENOX1-
-
-
-
3Gain-
ENSA-
-
-
-
5Amp-
EPB41L3-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHX1-
-
-
-
5Amp-
EPO-
-
-
-
3Gain-
EPRS-
-
-
-
5Amp-
EPSTI1-
-
-
-
3Gain-
ERCC5-
-
-
-
3Gain-
ERGp.R374H
Missense
SNP
0.567
2--
ERICH6B-
-
-
-
3Gain-
ERMP1p.C566Y
Missense
SNP
0.473
2--
ERO1B-
-
-
-
5Amp-
ERV3-1-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESD-
-
-
-
3Gain-
ESPL1p.R2017W
Missense
SNP
0.453
2--
ESRRG-
-
-
-
5Amp-
ESYT2-
-
-
-
3Gain-
ETNK2-
-
-
-
5Amp-
ETV1p.H232Y
Missense
SNP
0.688
3Gain-
ETV3-
-
-
-
4Gain-
ETV3L-
-
-
-
4Gain-
EVX1-
-
-
-
3Gain-
EXO1-
-
-
-
5Amp-
EXOC1p.V42L
Missense
SNP
0.282
2--
EXOC8-
-
-
-
5Amp-
EXOSC8-
-
-
-
3Gain-
F10-
-
-
-
3Gain-
F11R-
-
-
-
4Gain-
F13B-
-
-
-
5Amp-
F5-
-
-
-
4Gain-
F7-
-
-
-
3Gain-
FAM124A-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
5Amp-
FAM133B-
-
-
-
3Gain-
FAM155A-
-
-
-
3Gain-
FAM163A-
-
-
-
4Gain-
FAM177B-
-
-
-
5Amp-
FAM185A-
-
-
-
1Loss-
FAM189B-
-
-
-
4Gain-
FAM200A-
-
-
-
3Gain-
FAM20B-
-
-
-
4Gain-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM216B-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM47Bp.P189L
Missense
SNP
1.000
NDND-
FAM69C-
-
-
-
3Gain-
FAM71A-
-
-
-
5Amp-
FAM78B-
-
-
-
4Gain-
FAM89A-
-
-
-
5Amp-
FARP1-
-
-
-
3Gain-
FASLG-
-
-
-
4Gain-
FAT3p.R1116H
Missense
SNP
0.512
2--
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL3-
-
-
-
3Gain-
FBXO15-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO28-
-
-
-
5Amp-
FCAMR-
-
-
-
5Amp-
FCER1A-
-
-
-
4Gain-
FCER1G-
-
-
-
4Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
4Gain-
FCGR2B-
-
-
-
4Gain-
FCGR2C-
-
-
-
4Gain-
FCGR3A-
-
-
-
4Gain-
FCGR3B-
-
-
-
4Gain-
FCMR-
-
-
-
5Amp-
FCRL1-
-
-
-
4Gain-
FCRL2-
-
-
-
4Gain-
FCRL3-
-
-
-
4Gain-
FCRL4-
-
-
-
4Gain-
FCRL5-
-
-
-
4Gain-
FCRL6-
-
-
-
4Gain-
FCRLA-
-
-
-
4Gain-
FCRLB-
-
-
-
4Gain-
FDPS-
-
-
-
4Gain-
FECH-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FEZF1p.P458Q
Missense
SNP
1.000
2--
FGF12p.V111M
Missense
SNP
0.493
2--
FGF14-
-
-
-
3Gain-
FGF9-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FH-
-
-
-
5Amp-
FHOD3-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLAD1-
-
-
-
4Gain-
FLG-
-
-
-
5Amp-
FLG2-
-
-
-
6Amp-
FLRT2p.R571H
Missense
SNP
0.434
2--
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FLVCR1-
-
-
-
5Amp-
FMN2-
-
-
-
5Amp-
FMO1-
-
-
-
4Gain-
FMO2-
-
-
-
4Gain-
FMO3-
-
-
-
4Gain-
FMO4-
-
-
-
4Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
5Amp-
FNDC3A-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXO1-
-
-
-
3Gain-
FOXP1p.Q194H
Missense
SNP
0.543
2--
FREM2-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
G0S2-
-
-
-
5Amp-
GABPB2-
-
-
-
5Amp-
GAKp.A363V
Missense
SNP
0.544
2--
GAL3ST4-
-
-
-
3Gain-
GALNT1-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT2-
-
-
-
5Amp-
GALR1-
-
-
-
3Gain-
GAREM1-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATAD2B-
-
-
-
4Gain-
GBA-
-
-
-
4Gain-
GCK-
-
-
-
3Gain-
GCSAML-
-
-
-
5Amp-
GCSAML-AS1-
-
-
-
5Amp-
GET4-
-
-
-
3Gain-
GFOD2p.R315C
Missense
SNP
0.554
2--
GGACT-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGPS1-
-
-
-
5Amp-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GINS3p.R186C
Missense
SNP
0.500
2--
GJA3-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC2-
-
-
-
5Amp-
GJC3-
-
-
-
3Gain-
GLB1L3p.R605H
Missense
SNP
0.559
2--
GLCCI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLMP-
-
-
-
4Gain-
GLRX2-
-
-
-
5Amp-
GLUL-
-
-
-
5Amp-
GMIPp.R466Q
Missense
SNP
0.497
2--
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAL-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG4-
-
-
-
5Amp-
GNGT1-
-
-
-
3Gain-
GNPAT-
-
-
-
5Amp-
GOLPH3L-
-
-
-
5Amp-
GOLT1A-
-
-
-
5Amp-
GON4L-
-
-
-
4Gain-
GORAB-
-
-
-
4Gain-
GPA33-
-
-
-
4Gain-
GPALPP1-
-
-
-
3Gain-
GPATCH2-
-
-
-
5Amp-
GPATCH4-
-
-
-
4Gain-
GPC1p.A138V
Missense
SNP
0.444
2--
GPC2-
-
-
-
3Gain-
GPC5p.T184A
Missense
SNP
0.370
3Gain-
GPC6-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPLD1p.A549V
Missense
SNP
0.610
2--
GPNMB-
-
-
-
3Gain-
GPR12-
-
-
-
3Gain-
GPR135p.E403K
Missense
SNP
0.423
2--
GPR137B-
-
-
-
5Amp-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR161-
-
-
-
4Gain-
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
5Amp-
GPR37L1-
-
-
-
5Amp-
GPR4p.R49C
Missense
SNP
0.444
2--
GPR52p.M340V
Missense
SNP
0.747
4Gain-
GPR89A-
-
-
-
5Amp-
GPR89B-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GREB1L-
-
-
-
3Gain-
GREM2-
-
-
-
5Amp-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIN2Dp.A350T
Missense
SNP
0.522
2--
GRK1-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM6p.V775M
Missense
SNP
0.523
2--
GRP-
-
-
-
3Gain-
GRTP1-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSX1-
-
-
-
3Gain-
GTF2F2-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3A-
-
-
-
3Gain-
GTF3C1p.A2005V
Missense
SNP
0.431
2--
GTPBP10-
-
-
-
3Gain-
GUK1-
-
-
-
5Amp-
GUSBp.A171T
Missense
SNP
0.586
3Gain-
H2AFV-
-
-
-
3Gain-
H3F3A-
-
-
-
5Amp-
H3F3Cp.A75T
Missense
SNP
0.525
2--
HAPLN2-
-
-
-
4Gain-
HAUS1-
-
-
-
3Gain-
HAX1-
-
-
-
4Gain-
HBP1-
-
-
-
3Gain-
HCN3-
-
-
-
4Gain-
HDAC1p.S78F
Missense
SNP
0.468
2--
HDAC9-
-
-
-
3Gain-
HDGF-
-
-
-
4Gain-
HDHD2-
-
-
-
3Gain-
HEATR1-
-
-
-
5Amp-
HECTD3p.R843H
Missense
SNP
0.480
2--
HECTD4p.R2753*
Nonsense
SNP
0.532
2--
HECW1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERC1p.P98T
Missense
SNP
0.500
2--
HERPUD2-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HHAT-
-
-
-
5Amp-
HHIPL1p.E98K
Missense
SNP
0.500
2--
HHIPL2-
-
-
-
5Amp-
HIBADH-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIST1H4Fp.R93C
Missense
SNP
0.497
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
5Amp-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
5Amp-
HIST3H2BB-
-
-
-
5Amp-
HIST3H3-
-
-
-
5Amp-
HJV-
-
-
-
5Amp-
HLX-
-
-
-
5Amp-
HMCN1-
-
-
-
5Amp-
HMGB1-
-
-
-
3Gain-
HMSDp.R103C
Missense
SNP
0.686
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPU-
-
-
-
5Amp-
HORMAD1-
-
-
-
5Amp-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
5Amp-
HS6ST3-
-
-
-
3Gain-
HSBP1L1-
-
-
-
3Gain-
HSD11B1-
-
-
-
5Amp-
HSD17B7-
-
-
-
4Gain-
HSPA6-
-
-
-
4Gain-
HSPB1-
-
-
-
3Gain-
HSPH1-
-
-
-
3Gain-
HTR2A-
-
-
-
3Gain-
HUS1-
-
-
-
3Gain-
IARS2-
-
-
-
5Amp-
IBA57p.A183T
Missense
SNP
0.268
5Amp-
ICA1-
-
-
-
3Gain-
IER3IP1-
-
-
-
3Gain-
IER5-
-
-
-
5Amp-
IFI16-
-
-
-
4Gain-
IFNGR1p.D160N
Missense
SNP
0.535
2--
IFT22-
-
-
-
3Gain-
IFT88-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGF2Rp.R1973C
Missense
SNP
0.469
2--
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFN1-
-
-
-
5Amp-
IGSF8-
-
-
-
4Gain-
IGSF9-
-
-
-
4Gain-
IKBKE-
-
-
-
5Amp-
IKZF1-
-
-
-
3Gain-
IL10-
-
-
-
5Amp-
IL17D-
-
-
-
3Gain-
IL19-
-
-
-
5Amp-
IL20-
-
-
-
5Amp-
IL24-
-
-
-
5Amp-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
4Gain-
ILDR2-
-
-
-
4Gain-
ILF2-
-
-
-
4Gain-
IMMP2L-
-
-
-
3Gain-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
INAp.A128E
Missense
SNP
0.477
2--
INAVA-
-
-
-
5Amp-
ING1-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INPP5Ap.R343Q
Missense
SNP
0.495
2--
INSRR-
-
-
-
4Gain-
INTS1-
-
-
-
3Gain-
INTS3-
-
-
-
4Gain-
INTS6-
-
-
-
3Gain-
INTS7-
-
-
-
5Amp-
IPO5p.A585D
Missense
SNP
0.281
3Gain-
IPO9-
-
-
-
5Amp-
IQCEp.T169M
Missense
SNP
0.674
3Gain-
IQGAP3-
-
-
-
4Gain-
IRF2BP2-
-
-
-
5Amp-
IRF6-
-
-
-
5Amp-
IRF9p.G72E
Missense
SNP
0.484
2--
IRS2-
-
-
-
3Gain-
ISG20L2-
-
-
-
4Gain-
ISPD-
-
-
-
3Gain-
ITGA10-
-
-
-
5Amp-
ITGA2p.V1150I
Missense
SNP
0.495
2--
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
3Gain-
ITIH4p.R47Q
Missense
SNP
0.517
2--
ITLN1-
-
-
-
4Gain-
ITLN2-
-
-
-
4Gain-
ITM2B-
-
-
-
3Gain-
ITPKBp.R698H
Missense
SNP
0.250
5Amp-
ITPRID1-
-
-
-
3Gain-
IVL-
-
-
-
4Gain-
IVNS1ABP-
-
-
-
5Amp-
JAZF1-
-
-
-
3Gain-
JMJD4-
-
-
-
5Amp-
JTB-
-
-
-
4Gain-
KATNAL1-
-
-
-
3Gain-
KATNAL2-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KCND2p.S330L
Missense
SNP
0.563
2--
KCNG2-
-
-
-
3Gain-
KCNH1-
-
-
-
5Amp-
KCNJ10-
-
-
-
4Gain-
KCNJ4p.R56C
Missense
SNP
0.477
2--
KCNJ9-
-
-
-
4Gain-
KCNK1-
-
-
-
5Amp-
KCNK2-
-
-
-
5Amp-
KCNN3-
-
-
-
4Gain-
KCNQ4p.R216C
Missense
SNP
0.451
2--
KCNRG-
-
-
-
3Gain-
KCNT2-
-
-
-
5Amp-
KCTD1-
-
-
-
3Gain-
KCTD12-
-
-
-
3Gain-
KCTD3-
-
-
-
5Amp-
KCTD4-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELC1-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM5B-
-
-
-
5Amp-
KDSR-
-
-
-
3Gain-
KHDC4-
-
-
-
4Gain-
KIAA0040-
-
-
-
4Gain-
KIAA0430p.K428E
Missense
SNP
0.508
NDND-
KIAA0895-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
3Gain-
KIAA1614-
-
-
-
5Amp-
KIF14-
-
-
-
5Amp-
KIF21B-
-
-
-
5Amp-
KIF26B-
-
-
-
5Amp-
KIF9p.R293W
Missense
SNP
0.492
2--
KIFAP3-
-
-
-
4Gain-
KIRRELp.V561I
Missense
SNP
0.221
NDND-
KIRREL1-
-
-
-
4Gain-
KISS1-
-
-
-
5Amp-
KL-
-
-
-
3Gain-
KLF12-
-
-
-
3Gain-
KLF5-
-
-
-
3Gain-
KLHDC8A-
-
-
-
5Amp-
KLHDC9-
-
-
-
4Gain-
KLHL1-
-
-
-
3Gain-
KLHL12-
-
-
-
5Amp-
KLHL14-
-
-
-
3Gain-
KLHL20-
-
-
-
4Gain-
KLHL7-
-
-
-
3Gain-
KMO-
-
-
-
5Amp-
KMT2Dp.R5340*
Nonsense
SNP
0.458
2--
KMT2E-
-
-
-
3Gain-
KPNA3-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPRPp.R409H
Missense
SNP
0.213
4Gain-
KRIT1-
-
-
-
3Gain-
KRTCAP2-
-
-
-
4Gain-
L3MBTL4-
-
-
-
3Gain-
LACC1-
-
-
-
3Gain-
LAD1-
-
-
-
5Amp-
LAMA1-
-
-
-
3Gain-
LAMA3-
-
-
-
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
5Amp-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
5Amp-
LAMC2-
-
-
-
5Amp-
LAMP1-
-
-
-
3Gain-
LAMTOR2-
-
-
-
4Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS2-
-
-
-
3Gain-
LAX1-
-
-
-
5Amp-
LBR-
-
-
-
5Amp-
LCE1A-
-
-
-
4Gain-
LCE1B-
-
-
-
4Gain-
LCE1C-
-
-
-
4Gain-
LCE1E-
-
-
-
4Gain-
LCE1F-
-
-
-
4Gain-
LCE2A-
-
-
-
4Gain-
LCE2B-
-
-
-
4Gain-
LCE2C-
-
-
-
4Gain-
LCE2D-
-
-
-
4Gain-
LCE3A-
-
-
-
4Gain-
LCE3B-
-
-
-
4Gain-
LCE3C-
-
-
-
4Gain-
LCE3D-
-
-
-
4Gain-
LCE3E-
-
-
-
4Gain-
LCE4A-
-
-
-
4Gain-
LCE5A-
-
-
-
4Gain-
LCE6A-
-
-
-
4Gain-
LCN10p.R147C
Missense
SNP
0.519
2--
LCP1-
-
-
-
3Gain-
LDLRAD4-
-
-
-
3Gain-
LEFTY1-
-
-
-
5Amp-
LEFTY2-
-
-
-
5Amp-
LELP1-
-
-
-
4Gain-
LEMD1-
-
-
-
5Amp-
LENEP-
-
-
-
4Gain-
LFNG-
-
-
-
3Gain-
LGALS8-
-
-
-
5Amp-
LGR6-
-
-
-
5Amp-
LHFPL3-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LHX4-
-
-
-
5Amp-
LHX9-
-
-
-
5Amp-
LIG4-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIN9-
-
-
-
5Amp-
LINGO2p.R47*
Nonsense
SNP
0.484
2--
LINGO4-
-
-
-
5Amp-
LIPG-
-
-
-
3Gain-
LIX1L-
-
-
-
5Amp-
LMAN1-
-
-
-
3Gain-
LMNA-
-
-
-
4Gain-
LMO7p.A22V
Missense
SNP
0.660
3Gain-
LMOD1-
-
-
-
5Amp-
LMTK2-
-
-
-
3Gain-
LMX1A-
-
-
-
4Gain-
LNX2-
-
-
-
3Gain-
LOR-
-
-
-
4Gain-
LOXHD1-
-
-
-
3Gain-
LPAR6-
-
-
-
3Gain-
LPGAT1-
-
-
-
5Amp-
LPIN2-
-
-
-
3Gain-
LRCH1-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC52-
-
-
-
4Gain-
LRRC63-
-
-
-
3Gain-
LRRC71-
-
-
-
4Gain-
LRRC72-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRN2-
-
-
-
5Amp-
LRWD1-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LY9-
-
-
-
4Gain-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
5Amp-
LYSMD1-
-
-
-
5Amp-
LYST-
-
-
-
5Amp-
MAB21L1-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MADCAM1p.R344H
Missense
SNP
0.549
2--
MAEL-
-
-
-
4Gain-
MAFK-
-
-
-
3Gain-
MAGI2-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MALT1-
-
-
-
3Gain-
MAP10-
-
-
-
5Amp-
MAP1LC3C-
-
-
-
5Amp-
MAP3K21-
-
-
-
5Amp-
MAPK4-
-
-
-
3Gain-
MAPK7p.R524W
Missense
SNP
0.468
2--
MAPK8p.V260I
Missense
SNP
0.528
2--
MAPKAPK2-
-
-
-
5Amp-
MAPRE2-
-
-
-
3Gain-
MARC1-
-
-
-
5Amp-
MARC2-
-
-
-
5Amp-
MARK1-
-
-
-
5Amp-
MARVELD3p.A311T
Missense
SNP
0.492
2--
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBNL2-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCCC1p.E425K
Missense
SNP
0.460
2--
MCF2L-
-
-
-
3Gain-
MCL1-
-
-
-
5Amp-
MCM7-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
5Amp-
ME2-
-
-
-
3Gain-
MED24p.R894W
Missense
SNP
0.458
2--
MED4-
-
-
-
3Gain-
MEDAG-
-
-
-
3Gain-
MEF2D-
-
-
-
4Gain-
MELKp.G327V
Missense
SNP
0.502
2--
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
METTL11B-
-
-
-
4Gain-
METTL13-
-
-
-
4Gain-
METTL18-
-
-
-
4Gain-
METTL21C-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL4-
-
-
-
3Gain-
MEX3A-
-
-
-
4Gain-
MEX3C-
-
-
-
3Gain-
MFSD4A-
-
-
-
5Amp-
MFSD6p.V309I
Missense
SNP
0.487
2--
MGAT5Bp.T503A
Missense
SNP
0.388
2--
MGST3-
-
-
-
4Gain-
MIA2-
-
-
-
2-WDYHV1--MIA2
MIA3-
-
-
-
5Amp-
MIB1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MICU2-
-
-
-
3Gain-
MINDY1-
-
-
-
5Amp-
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIPEP-
-
-
-
3Gain-
MIXL1-
-
-
-
5Amp-
MLLT11-
-
-
-
5Amp-
MLNR-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MNDA-
-
-
-
4Gain-
MOCOS-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MPC2-
-
-
-
4Gain-
MPHOSPH8-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPPE1-
-
-
-
3Gain-
MPZ-
-
-
-
4Gain-
MPZL1-
-
-
-
4Gain-
MR1-
-
-
-
5Amp-
MRE11Ap.R351H
Missense
SNP
0.371
NDND-
MRM2-
-
-
-
3Gain-
MRO-
-
-
-
3Gain-
MROH9-
-
-
-
4Gain-
MRPL24-
-
-
-
4Gain-
MRPL32p.R85H
Missense
SNP
0.299
3Gain-
MRPL55-
-
-
-
5Amp-
MRPL57-
-
-
-
3Gain-
MRPL9-
-
-
-
5Amp-
MRPS14-
-
-
-
4Gain-
MRPS17-
-
-
-
3Gain-
MRPS21-
-
-
-
5Amp-
MRPS24-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MSTO1-
-
-
-
4Gain-
MT1HL1-
-
-
-
5Amp-
MTCL1-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTHFRp.R377H
Missense
SNP
1.000
2--
MTIF3-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR6-
-
-
-
3Gain-
MTR-
-
-
-
5Amp-
MTRF1-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS2-
-
-
-
3Gain-
MTX1-
-
-
-
4Gain-
MUC1-
-
-
-
4Gain-
MUC12-
-
-
-
3Gain-
MUC17-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MYBPH-
-
-
-
5Amp-
MYCBP2-
-
-
-
3Gain-
MYH7Bp.P192L
Missense
SNP
0.443
2--
MYH8p.R1139H
Missense
SNP
0.476
2--
MYL10-
-
-
-
3Gain-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYO16-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO5B-
-
-
-
3Gain-
MYOC-
-
-
-
4Gain-
MYOCOS-
-
-
-
4Gain-
MYOG-
-
-
-
5Amp-
MYOM1-
-
-
-
3Gain-
MZT1-
-
-
-
3Gain-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA16-
-
-
-
3Gain-
NACADp.T371M
Missense
SNP
0.782
3Gain-
NALCN-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPG-
-
-
-
3Gain-
NARS-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAV1-
-
-
-
5Amp-
NAXD-
-
-
-
3Gain-
NAXE-
-
-
-
4Gain-
NBEA-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
5Amp-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
5Amp-
NBPF9-
-
-
-
3Gain-
NCBP1p.R464C
Missense
SNP
0.471
2--
NCCRP1p.R98W
Missense
SNP
0.439
2--
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
5Amp-
NCK2p.E211K
Missense
SNP
0.453
2--
NCKAP5p.R411*
Nonsense
SNP
0.424
2--
NCSTN-
-
-
-
4Gain-
NDC80-
-
-
-
3Gain-
NDFIP2-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFS2-
-
-
-
4Gain-
NDUFV2-
-
-
-
3Gain-
NECTIN4-
-
-
-
4Gain-
NEDD4L-
-
-
-
3Gain-
NEK2-
-
-
-
5Amp-
NEK3-
-
-
-
3Gain-
NEK5-
-
-
-
3Gain-
NEK7-
-
-
-
5Amp-
NENF-
-
-
-
5Amp-
NES-
-
-
-
4Gain-
NETO1-
-
-
-
3Gain-
NEUROD6p.S242Y
Missense
SNP
0.284
3Gain-
NFASC-
-
-
-
5Amp-
NFATC1-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIXp.R422*
Nonsense
SNP
0.505
2--
NFXL1p.V899I
Missense
SNP
0.423
2--
NHLH1-
-
-
-
4Gain-
NHLRC3-
-
-
-
3Gain-
NID1-
-
-
-
5Amp-
NID2p.L844S
Missense
SNP
0.559
2--
NIPSNAP2-
-
-
-
3Gain-
NIT1-
-
-
-
4Gain-
NLRP3-
-
-
-
5Amp-
NME7-
-
-
-
4Gain-
NME8-
-
-
-
3Gain-
NMNAT2-
-
-
-
5Amp-
NOD1-
-
-
-
3Gain-
NOL4-
-
-
-
3Gain-
NOS1AP-
-
-
-
4Gain-
NOTCH2NLA-
-
-
-
3Gain-
NPAP1p.M1015I
Missense
SNP
0.481
2--
NPC1-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPHS2-
-
-
-
4Gain-
NPL-
-
-
-
5Amp-
NPR1-
-
-
-
4Gain-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR1I3-
-
-
-
4Gain-
NR5A2-
-
-
-
5Amp-
NRCAM-
-
-
-
3Gain-
NSL1-
-
-
-
5Amp-
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NTPCR-
-
-
-
5Amp-
NTRK1-
-
-
-
4Gain-
NUAK2-
-
-
-
5Amp-
NUBP2p.G186*
Nonsense
SNP
0.412
2--
NUCKS1-
-
-
-
5Amp-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT15-
-
-
-
3Gain-
NUDT17-
-
-
-
5Amp-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
4Gain-
NUFIP1-
-
-
-
3Gain-
NUP133-
-
-
-
5Amp-
NUP210L-
-
-
-
4Gain-
NUP58-
-
-
-
3Gain-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NVL-
-
-
-
5Amp-
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OAZ3-
-
-
-
5Amp-
OBSCN-
-
-
-
5Amp-
OCLM-
-
-
-
5Amp-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODR4-
-
-
-
5Amp-
OGDH-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OLFML2B-
-
-
-
4Gain-
ONECUT2-
-
-
-
3Gain-
OPN3-
-
-
-
5Amp-
OPTC-
-
-
-
5Amp-
OR10J1-
-
-
-
4Gain-
OR10J3-
-
-
-
4Gain-
OR10J5-
-
-
-
4Gain-
OR10K1-
-
-
-
4Gain-
OR10K2-
-
-
-
4Gain-
OR10R2-
-
-
-
4Gain-
OR10T2-
-
-
-
4Gain-
OR10X1-
-
-
-
4Gain-
OR10Z1-
-
-
-
4Gain-
OR11L1-
-
-
-
5Amp-
OR13G1-
-
-
-
5Amp-
OR14A16-
-
-
-
5Amp-
OR14A2-
-
-
-
5Amp-
OR14C36-
-
-
-
5Amp-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
5Amp-
OR1C1-
-
-
-
5Amp-
OR2A1-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AE1-
-
-
-
3Gain-
OR2AJ1-
-
-
-
5Amp-
OR2AK2-
-
-
-
5Amp-
OR2B11-
-
-
-
5Amp-
OR2C3-
-
-
-
5Amp-
OR2G2-
-
-
-
5Amp-
OR2G3-
-
-
-
5Amp-
OR2G6-
-
-
-
5Amp-
OR2L13-
-
-
-
5Amp-
OR2L2-
-
-
-
5Amp-
OR2L3-
-
-
-
5Amp-
OR2L5-
-
-
-
5Amp-
OR2L8-
-
-
-
5Amp-
OR2M2-
-
-
-
5Amp-
OR2M3-
-
-
-
5Amp-
OR2M4-
-
-
-
5Amp-
OR2M5-
-
-
-
5Amp-
OR2M7-
-
-
-
5Amp-
OR2T1-
-
-
-
5Amp-
OR2T12-
-
-
-
5Amp-
OR2T2-
-
-
-
5Amp-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
5Amp-
OR2T3-
-
-
-
5Amp-
OR2T33-
-
-
-
5Amp-
OR2T34-
-
-
-
5Amp-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
5Amp-
OR2T5-
-
-
-
5Amp-
OR2T6-
-
-
-
5Amp-
OR2T8-
-
-
-
5Amp-
OR2W3-
-
-
-
5Amp-
OR4C12p.K87T
Missense
SNP
0.452
2--
OR4K1-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4M1-
-
-
-
3Gain-
OR4N2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR52D1p.A31V
Missense
SNP
0.464
2--
OR6F1-
-
-
-
5Amp-
OR6K2-
-
-
-
4Gain-
OR6K3-
-
-
-
4Gain-
OR6K6-
-
-
-
4Gain-
OR6N1-
-
-
-
4Gain-
OR6N2-
-
-
-
4Gain-
OR6P1-
-
-
-
4Gain-
OR6Y1-
-
-
-
4Gain-
OR8B12p.A157T
Missense
SNP
0.419
2--
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL2p.V242I
Missense
SNP
0.497
2--
OSBPL3-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OXGR1-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PACSIN1p.R288C
Missense
SNP
0.510
2--
PAN3-
-
-
-
3Gain-
PAPOLB-
-
-
-
3Gain-
PAPPA2-
-
-
-
4Gain-
PAQR4p.L57M
Missense
SNP
0.436
2--
PAQR6-
-
-
-
4Gain-
PARD6G-
-
-
-
3Gain-
PARK2p.D346N
Missense
SNP
0.470
NDND-
PARP1-
-
-
-
5Amp-
PARP2p.T184M
Missense
SNP
0.373
2--
PARP4-
-
-
-
3Gain-
PBX1-
-
-
-
4Gain-
PBXIP1-
-
-
-
4Gain-
PCCAp.R230H
Missense
SNP
0.669
3Gain-
PCDH17p.L1072V
Missense
SNP
0.321
3Gain-
PCDH20-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA8p.T461M
p.G673V
Missense
Missense
SNP
SNP
0.546
0.484
2--
PCDHB7p.V439M
Missense
SNP
0.629
2--
PCDHGA1p.R627C
Missense
SNP
0.214
2--
PCDHGA11p.R25W
Missense
SNP
0.448
2--
PCDHGB2p.A266T
p.A469T
Missense
Missense
SNP
SNP
0.469
0.478
2--
PCID2-
-
-
-
3Gain-
PCLOp.A4915V
p.A2934T
Missense
Missense
SNP
SNP
0.644
0.370
3Gain-
PCNX2-
-
-
-
5Amp-
PCOLCE-
-
-
-
3Gain-
PCP4L1-
-
-
-
4Gain-
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
5Amp-
PDCD10p.R95*
Nonsense
SNP
0.442
2--
PDCD4p.G451D
Missense
SNP
0.312
2--
PDE1C-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDZK1-
-
-
-
5Amp-
PEA15-
-
-
-
4Gain-
PEAR1-
-
-
-
4Gain-
PEG10-
-
-
-
3Gain-
PERM1p.P153H
Missense
SNP
1.000
2--
PEX1-
-
-
-
3Gain-
PEX11B-
-
-
-
5Amp-
PEX19-
-
-
-
4Gain-
PFDN2-
-
-
-
4Gain-
PFKFB2-
-
-
-
5Amp-
PGAM2-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
5Amp-
PGLSp.R214C
Missense
SNP
0.513
2--
PGLYRP3-
-
-
-
4Gain-
PGLYRP4-
-
-
-
4Gain-
PHF11-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
5Amp-
PHLPP1-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PI4KB-
-
-
-
5Amp-
PIAS2-
-
-
-
3Gain-
PIAS3-
-
-
-
5Amp-
PIBF1-
-
-
-
3Gain-
PIEZO2-
-
-
-
3Gain-
PIGC-
-
-
-
4Gain-
PIGM-
-
-
-
4Gain-
PIGN-
-
-
-
3Gain-
PIGR-
-
-
-
5Amp-
PIK3C2B-
-
-
-
5Amp-
PIK3C3-
-
-
-
3Gain-
PIK3CAp.C420R
Missense
SNP
0.558
2--
PIK3CG-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIP5K1A-
-
-
-
5Amp-
PKD1L1-
-
-
-
3Gain-
PKDREJp.K700N
p.A160V
Missense
Missense
SNP
SNP
0.548
0.478
2--
PKLR-
-
-
-
4Gain-
PKP1-
-
-
-
5Amp-
PLA2G4A-
-
-
-
6Amp-
PLCL1p.P228H
Missense
SNP
0.517
2--
PLD5-
-
-
-
5Amp-
PLECp.A2480V
Missense
SNP
0.547
2--
PLEKHA6-
-
-
-
5Amp-
PLEKHA8-
-
-
-
3Gain-
PLEKHO1-
-
-
-
5Amp-
PLOD3-
-
-
-
3Gain-
PLXNA2-
-
-
-
5Amp-
PM20D1-
-
-
-
5Amp-
PMAIP1-
-
-
-
3Gain-
PMF1-
-
-
-
4Gain-
PMF1-BGLAP-
-
-
-
4Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
4Gain-
PNPLA8-
-
-
-
3Gain-
POGK-
-
-
-
4Gain-
POGZp.R1074C
Missense
SNP
0.227
5Amp-
POLD2-
-
-
-
3Gain-
POLI-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLR1D-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR3C-
-
-
-
5Amp-
POLR3GL-
-
-
-
5Amp-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMP-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POSTN-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POU2F1-
-
-
-
4Gain-
POU4F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPFIA4-
-
-
-
5Amp-
PPIA-
-
-
-
3Gain-
PPOX-
-
-
-
4Gain-
PPP1R12B-
-
-
-
5Amp-
PPP1R15B-
-
-
-
5Amp-
PPP1R17-
-
-
-
3Gain-
PPP1R1Ap.S67F
Missense
SNP
0.459
2--
PPP1R35-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2R5A-
-
-
-
5Amp-
PPP4R1-
-
-
-
3Gain-
PPRC1p.P446H
Missense
SNP
0.520
2--
PQLC1-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRCC-
-
-
-
4Gain-
PRDX6-
-
-
-
4Gain-
PRELID3A-
-
-
-
3Gain-
PRELP-
-
-
-
5Amp-
PRG4-
-
-
-
5Amp-
PRKAB2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCAp.G525D
Missense
SNP
0.485
2--
PRKRIP1-
-
-
-
3Gain-
PROSER1-
-
-
-
3Gain-
PROX1-
-
-
-
5Amp-
PROZ-
-
-
-
3Gain-
PRPF3-
-
-
-
5Amp-
PRPS1L1-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR5p.G15R
Missense
SNP
0.522
2--
PRR9-
-
-
-
4Gain-
PRRC2C-
-
-
-
4Gain-
PRRX1-
-
-
-
4Gain-
PRSS38-
-
-
-
5Amp-
PRUNE1-
-
-
-
5Amp-
PSEN2-
-
-
-
5Amp-
PSMA2-
-
-
-
3Gain-
PSMA8-
-
-
-
3Gain-
PSMB4-
-
-
-
5Amp-
PSMC2-
-
-
-
3Gain-
PSMD4-
-
-
-
5Amp-
PSMG2-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSTPIP2-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTGS2-
-
-
-
5Amp-
PTPN12-
-
-
-
3Gain-
PTPN14-
-
-
-
5Amp-
PTPN2-
-
-
-
3Gain-
PTPN7-
-
-
-
5Amp-
PTPRC-
-
-
-
5Amp-
PTPRKp.K923*
Nonsense
SNP
0.500
2--
PTPRM-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PYCR2-
-
-
-
5Amp-
PYGO2-
-
-
-
4Gain-
PYHIN1-
-
-
-
4Gain-
QRFPRp.L93P
Missense
SNP
0.487
2--
QSOX1-
-
-
-
5Amp-
RAB12-
-
-
-
3Gain-
RAB13-
-
-
-
4Gain-
RAB20-
-
-
-
3Gain-
RAB25-
-
-
-
4Gain-
RAB27B-
-
-
-
3Gain-
RAB29-
-
-
-
5Amp-
RAB31-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
5Amp-
RAB4A-
-
-
-
5Amp-
RABGAP1L-
-
-
-
4Gain-
RABGEF1-
-
-
-
3Gain-
RABIF-
-
-
-
5Amp-
RAC1-
-
-
-
3Gain-
RAD51Dp.A316T
Missense
SNP
0.545
2--
RADIL-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RALGPS2-
-
-
-
4Gain-
RAMP3-
-
-
-
3Gain-
RAP2A-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RASA3-
-
-
-
3Gain-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL2-
-
-
-
4Gain-
RASGRP1p.S314L
Missense
SNP
0.449
2--
RASL11A-
-
-
-
3Gain-
RASSF5-
-
-
-
5Amp-
RAX-
-
-
-
3Gain-
RB1p.R320*
Nonsense
SNP
0.646
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP5-
-
-
-
5Amp-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBL2p.R493H
Missense
SNP
0.477
2--
RBM26p.E997D
Missense
SNP
0.374
3Gain-
RBM34-
-
-
-
5Amp-
RBM48-
-
-
-
3Gain-
RBM8A-
-
-
-
5Amp-
RBP7p.L78M
Missense
SNP
1.000
2--
RC3H1-
-
-
-
4Gain-
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCOR1p.S235Y
Missense
SNP
0.550
2--
RCOR3-
-
-
-
5Amp-
RCSD1-
-
-
-
4Gain-
RD3-
-
-
-
5Amp-
RELCH-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
REN-
-
-
-
5Amp-
RFC2p.A225T
Missense
SNP
0.680
3Gain-
RFC3-
-
-
-
3Gain-
RFX1p.V452M
Missense
SNP
0.445
2--
RFX5-
-
-
-
5Amp-
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGL1-
-
-
-
5Amp-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
6Amp-
RGS13-
-
-
-
6Amp-
RGS16-
-
-
-
5Amp-
RGS18-
-
-
-
6Amp-
RGS2-
-
-
-
6Amp-
RGS21-
-
-
-
6Amp-
RGS4-
-
-
-
4Gain-
RGS5-
-
-
-
4Gain-
RGS7-
-
-
-
5Amp-
RGS8-
-
-
-
5Amp-
RGSL1-
-
-
-
5Amp-
RHBDD2-
-
-
-
3Gain-
RHBG-
-
-
-
4Gain-
RHEX-
-
-
-
5Amp-
RHOU-
-
-
-
5Amp-
RIIAD1-
-
-
-
5Amp-
RINT1-
-
-
-
3Gain-
RIOK3-
-
-
-
3Gain-
RIPK1p.R638K
Missense
SNP
0.477
2--
RIT1p.A74D
Missense
SNP
0.237
4Gain-
RIT2-
-
-
-
3Gain-
RMC1-
-
-
-
3Gain-
RNASEH2B-
-
-
-
3Gain-
RNASEL-
-
-
-
5Amp-
RNF113B-
-
-
-
3Gain-
RNF115-
-
-
-
5Amp-
RNF125-
-
-
-
3Gain-
RNF138-
-
-
-
3Gain-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF17-
-
-
-
3Gain-
RNF187-
-
-
-
5Amp-
RNF2-
-
-
-
5Amp-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
3Gain-
RNF6-
-
-
-
3Gain-
RNMT-
-
-
-
3Gain-
RNPEP-
-
-
-
5Amp-
ROCK1-
-
-
-
3Gain-
RORBp.I388N
Missense
SNP
0.534
2--
RORC-
-
-
-
5Amp-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL21-
-
-
-
3Gain-
RPRD1A-
-
-
-
3Gain-
RPRD2-
-
-
-
5Amp-
RPS27-
-
-
-
4Gain-
RPS6KC1-
-
-
-
5Amp-
RPS9p.E191D
Missense
SNP
0.750
2--
RPTN-
-
-
-
5Amp-
RRNAD1-
-
-
-
4Gain-
RRP15-
-
-
-
5Amp-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPO1p.R2Q
Missense
SNP
0.600
2--
RTTN-
-
-
-
3Gain-
RUBCNp.R385H
Missense
SNP
0.520
2--
RUBCNL-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUSC1-
-
-
-
4Gain-
RXFP2-
-
-
-
3Gain-
RXFP4-
-
-
-
4Gain-
RXRG-
-
-
-
4Gain-
RYR2-
-
-
-
5Amp-
S100A1-
-
-
-
4Gain-
S100A10-
-
-
-
5Amp-
S100A11-
-
-
-
5Amp-
S100A12-
-
-
-
4Gain-
S100A13-
-
-
-
4Gain-
S100A14-
-
-
-
4Gain-
S100A16-
-
-
-
4Gain-
S100A2-
-
-
-
4Gain-
S100A3-
-
-
-
4Gain-
S100A4-
-
-
-
4Gain-
S100A5-
-
-
-
4Gain-
S100A6-
-
-
-
4Gain-
S100A7-
-
-
-
4Gain-
S100A7A-
-
-
-
4Gain-
S100A7L2-
-
-
-
4Gain-
S100A8-
-
-
-
4Gain-
S100A9-
-
-
-
4Gain-
SACS-
-
-
-
3Gain-
SALL3-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP18-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SCAMP3-
-
-
-
4Gain-
SCCPDH-
-
-
-
5Amp-
SCEL-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCNM1-
-
-
-
5Amp-
SCRN1-
-
-
-
3Gain-
SCYL3-
-
-
-
4Gain-
SDCCAG8-
-
-
-
5Amp-
SDE2-
-
-
-
5Amp-
SDHAF3-
-
-
-
3Gain-
SDHC-
-
-
-
4Gain-
SDK1-
-
-
-
3Gain-
SDK2p.T540M
Missense
SNP
0.512
2--
SEC11C-
-
-
-
3Gain-
SEC16B-
-
-
-
4Gain-
SEC31Bp.T103I
Missense
SNP
0.541
2--
SEC61G-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SELE-
-
-
-
4Gain-
SELENBP1-
-
-
-
5Amp-
SELL-
-
-
-
4Gain-
SELP-
-
-
-
4Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4A-
-
-
-
4Gain-
SEMA6C-
-
-
-
5Amp-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERP2-
-
-
-
3Gain-
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPINC1-
-
-
-
4Gain-
SERPINE1-
-
-
-
3Gain-
SERPINE3-
-
-
-
3Gain-
SERTAD4-
-
-
-
5Amp-
SERTM1-
-
-
-
3Gain-
SETBP1-
-
-
-
3Gain-
SETDB1-
-
-
-
5Amp-
SETDB2-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFT2D2-
-
-
-
4Gain-
SGCE-
-
-
-
3Gain-
SGCG-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2D1B-
-
-
-
4Gain-
SH2D2A-
-
-
-
4Gain-
SH3BP5L-
-
-
-
3Gain-
SHC1-
-
-
-
4Gain-
SHCBP1L-
-
-
-
5Amp-
SHE-
-
-
-
4Gain-
SHISA2-
-
-
-
3Gain-
SHISA4-
-
-
-
5Amp-
SIAH3-
-
-
-
3Gain-
SIGLEC15-
-
-
-
3Gain-
SIPA1L2-
-
-
-
5Amp-
SKA1-
-
-
-
3Gain-
SKA3-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKOR2-
-
-
-
3Gain-
SLAIN1-
-
-
-
3Gain-
SLAMF1-
-
-
-
4Gain-
SLAMF6-
-
-
-
4Gain-
SLAMF7-
-
-
-
4Gain-
SLAMF8-
-
-
-
4Gain-
SLAMF9-
-
-
-
4Gain-
SLC10A2-
-
-
-
3Gain-
SLC12A7p.V324I
Missense
SNP
0.429
2--
SLC12A9-
-
-
-
3Gain-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC15A1-
-
-
-
3Gain-
SLC19A2-
-
-
-
4Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A15-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A44-
-
-
-
4Gain-
SLC25A52-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A9-
-
-
-
5Amp-
SLC27A3-
-
-
-
4Gain-
SLC29A4-
-
-
-
3Gain-
SLC30A1-
-
-
-
5Amp-
SLC30A10-
-
-
-
5Amp-
SLC35F3-
-
-
-
5Amp-
SLC35G4-
-
-
-
3Gain-
SLC38A8p.R243H
Missense
SNP
0.390
2--
SLC39A1-
-
-
-
4Gain-
SLC39A6-
-
-
-
3Gain-
SLC41A1-
-
-
-
5Amp-
SLC44A5p.R539H
Missense
SNP
0.466
2--
SLC45A3-
-
-
-
5Amp-
SLC46A3-
-
-
-
3Gain-
SLC50A1-
-
-
-
4Gain-
SLC6A19p.A387T
Missense
SNP
0.479
2--
SLC7A1-
-
-
-
3Gain-
SLC9C2-
-
-
-
4Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7-
-
-
-
3Gain-
SMAD9-
-
-
-
3Gain-
SMARCA4p.G603D
Missense
SNP
0.534
2--
SMCHD1-
-
-
-
3Gain-
SMCP-
-
-
-
4Gain-
SMG5-
-
-
-
4Gain-
SMG7-
-
-
-
5Amp-
SMIM2-
-
-
-
3Gain-
SMIM21-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SMYD2-
-
-
-
5Amp-
SMYD3-
-
-
-
5Amp-
SNAP47-
-
-
-
5Amp-
SNAPIN-
-
-
-
4Gain-
SNHG28-
-
-
-
4Gain-
SNRPD1-
-
-
-
3Gain-
SNRPE-
-
-
-
5Amp-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX27-
-
-
-
5Amp-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
4Gain-
SOCS6-
-
-
-
3Gain-
SOHLH2-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOX1-
-
-
-
3Gain-
SOX13-
-
-
-
5Amp-
SOX14p.A127T
Missense
SNP
0.516
2--
SOX21-
-
-
-
3Gain-
SOX8p.V282I
Missense
SNP
0.556
2--
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPACA7-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPART-
-
-
-
3Gain-
SPATA13-
-
-
-
3Gain-
SPATA17-
-
-
-
5Amp-
SPATA45-
-
-
-
5Amp-
SPATA46-
-
-
-
4Gain-
SPATA48-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPERT-
-
-
-
3Gain-
SPHAR-
-
-
-
5Amp-
SPIRE1-
-
-
-
3Gain-
SPRR1A-
-
-
-
4Gain-
SPRR1B-
-
-
-
4Gain-
SPRR3-
-
-
-
4Gain-
SPRR4-
-
-
-
4Gain-
SPRTN-
-
-
-
5Amp-
SPRY2-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SPTA1-
-
-
-
4Gain-
SPTBN1p.D1922N
Missense
SNP
0.471
2--
SRGAP2-
-
-
-
5Amp-
SRGAP2B-
-
-
-
5Amp-
SRI-
-
-
-
3Gain-
SRP9-
-
-
-
5Amp-
SRPK2-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SS18-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSH1p.E190K
Missense
SNP
0.444
2--
SSR2-
-
-
-
4Gain-
SSTR1p.R218H
Missense
SNP
0.478
2--
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STARD13-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD6-
-
-
-
3Gain-
STAU2p.A111V
Missense
SNP
0.465
2--
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK24-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STUM-
-
-
-
5Amp-
STX1A-
-
-
-
3Gain-
STX6-
-
-
-
5Amp-
STXBP1p.R551C
Missense
SNP
0.459
2--
STYXL1-
-
-
-
3Gain-
SUCLA2-
-
-
-
3Gain-
SUCO-
-
-
-
4Gain-
SUGCT-
-
-
-
3Gain-
SUGT1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT20H-
-
-
-
3Gain-
SUSD4-
-
-
-
5Amp-
SV2A-
-
-
-
3Gain-
SVILp.A1004V
p.R895H
Missense
Missense
SNP
SNP
0.533
0.557
2--
SWT1-
-
-
-
5Amp-
SYPL1-
-
-
-
3Gain-
SYT11-
-
-
-
4Gain-
SYT14-
-
-
-
5Amp-
SYT2-
-
-
-
5Amp-
SYT4-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TADA1-
-
-
-
4Gain-
TAF1A-
-
-
-
5Amp-
TAF4B-
-
-
-
3Gain-
TAF5L-
-
-
-
5Amp-
TAF6-
-
-
-
3Gain-
TAGLN2-
-
-
-
4Gain-
TARBP1-
-
-
-
5Amp-
TARS2-
-
-
-
5Amp-
TATDN3-
-
-
-
5Amp-
TAX1BP1-
-
-
-
3Gain-
TBC1D4-
-
-
-
3Gain-
TBCE-
-
-
-
5Amp-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX10p.X183_splice
Splice_Site
SNP
0.515
2--
TBX19-
-
-
-
4Gain-
TBX20-
-
-
-
3Gain-
TCF20p.A334T
Missense
SNP
0.506
2--
TCF23p.R88W
Missense
SNP
0.443
2--
TCF4-
-
-
-
3Gain-
TCHH-
-
-
-
5Amp-
TCHHL1-
-
-
-
5Amp-
TCL1Bp.R43C
Missense
SNP
0.380
2--
TDRD10-
-
-
-
4Gain-
TDRD3-
-
-
-
3Gain-
TDRD5-
-
-
-
4Gain-
TDRKH-
-
-
-
5Amp-
TECPR1-
-
-
-
3Gain-
TEDDM1-
-
-
-
5Amp-
TENM4p.R177W
Missense
SNP
0.452
2--
TET1p.I1191V
Missense
SNP
0.500
2--
TEX15p.A1262V
Missense
SNP
0.425
2--
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX35-
-
-
-
4Gain-
TEX47-
-
-
-
3Gain-
TEX50-
-
-
-
4Gain-
TFB2M-
-
-
-
5Amp-
TFDP1-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TGDS-
-
-
-
3Gain-
TGFB2-
-
-
-
5Amp-
TGIF1-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THBS3-
-
-
-
4Gain-
THEM4-
-
-
-
5Amp-
THEM5-
-
-
-
5Amp-
THOC1-
-
-
-
3Gain-
THSD1-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
TIMM17A-
-
-
-
5Amp-
TIMM21-
-
-
-
3Gain-
TIPRL-
-
-
-
4Gain-
TLR5-
-
-
-
5Amp-
TM7SF3p.S59L
Missense
SNP
0.468
2--
TM9SF2-
-
-
-
3Gain-
TMCC2-
-
-
-
5Amp-
TMCO1-
-
-
-
4Gain-
TMCO3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM132Cp.R182W
Missense
SNP
0.443
2--
TMEM132Dp.D303N
Missense
SNP
0.463
2--
TMEM151Ap.A285T
Missense
SNP
0.545
2--
TMEM183A-
-
-
-
5Amp-
TMEM184A-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM200C-
-
-
-
3Gain-
TMEM206p.A259T
Missense
SNP
0.748
5Amp-
TMEM225B-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM255B-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM272-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM63A-
-
-
-
5Amp-
TMEM79-
-
-
-
4Gain-
TMEM81-
-
-
-
5Amp-
TMEM86Ap.A194T
Missense
SNP
0.496
2--
TMEM9-
-
-
-
5Amp-
TMOD4-
-
-
-
5Amp-
TMTC4p.V128M
Missense
SNP
0.623
3Gain-
TMX3-
-
-
-
3Gain-
TNFAIP8L2-
-
-
-
5Amp-
TNFRSF11A-
-
-
-
3Gain-
TNFRSF19-
-
-
-
3Gain-
TNFSF11-
-
-
-
3Gain-
TNFSF13B-
-
-
-
3Gain-
TNFSF18-
-
-
-
4Gain-
TNFSF4-
-
-
-
4Gain-
TNN-
-
-
-
4Gain-
TNNI1-
-
-
-
5Amp-
TNNT2-
-
-
-
5Amp-
TNR-
-
-
-
4Gain-
TNRC18-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXB-
-
-
-
1Loss-
TOMM20-
-
-
-
5Amp-
TOMM40L-
-
-
-
4Gain-
TOMM7-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
4Gain-
TOR1AIP2-
-
-
-
4Gain-
TOR3A-
-
-
-
4Gain-
TP53BP2-
-
-
-
5Amp-
TPGS2-
-
-
-
3Gain-
TPM3-
-
-
-
4Gain-
TPP1p.R259H
Missense
SNP
0.547
2--
TPP2-
-
-
-
3Gain-
TPRp.D1971E
Missense
SNP
0.277
5Amp-
TPST1-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTE2-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
5Amp-
TRAF5-
-
-
-
5Amp-
TRAF7p.A89T
Missense
SNP
0.447
2--
TRANK1p.R2658Q
Missense
SNP
0.446
2--
TRAPPC13p.G155E
Missense
SNP
0.405
2--
TRAPPC8-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
5Amp-
TRIM13-
-
-
-
3Gain-
TRIM17-
-
-
-
5Amp-
TRIM4-
-
-
-
3Gain-
TRIM42p.R468W
Missense
SNP
0.506
2--
TRIM46-
-
-
-
4Gain-
TRIM50-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM58-
-
-
-
5Amp-
TRIM67-
-
-
-
5Amp-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM9p.R488Q
Missense
SNP
0.485
2--
TRIOBPp.R885H
Missense
SNP
0.497
2--
TRIP6p.A114V
Missense
SNP
0.707
3Gain-
TRMT1L-
-
-
-
5Amp-
TROVE2-
-
-
-
5Amp-
TRPC4-
-
-
-
3Gain-
TRPM8p.A875V
Missense
SNP
0.534
2--
TRRAP-
-
-
-
3Gain-
TSACC-
-
-
-
4Gain-
TSC22D1-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN15-
-
-
-
5Amp-
TSHZ1-
-
-
-
3Gain-
TSNAX-
-
-
-
5Amp-
TSNAX-DISC1-
-
-
-
5Amp-
TSPAN13-
-
-
-
3Gain-
TSTD1-
-
-
-
4Gain-
TTC13-
-
-
-
5Amp-
TTC24-
-
-
-
4Gain-
TTC39C-
-
-
-
3Gain-
TTNp.L17783H
Missense
SNP
0.537
2--
TTR-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA3C-
-
-
-
3Gain-
TUBB6-
-
-
-
3Gain-
TUBGCP3-
-
-
-
3Gain-
TUFT1-
-
-
-
5Amp-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNIP-
-
-
-
5Amp-
TXNL1-
-
-
-
3Gain-
TXNL4A-
-
-
-
3Gain-
TXNRD1p.A10V
Missense
SNP
0.633
2--
TYMS-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
UAP1-
-
-
-
4Gain-
UBAC2-
-
-
-
3Gain-
UBAP2L-
-
-
-
4Gain-
UBE2D4-
-
-
-
3Gain-
UBE2L5-
-
-
-
3Gain-
UBE2Q1-
-
-
-
4Gain-
UBE2T-
-
-
-
5Amp-
UBL3-
-
-
-
3Gain-
UBQLN4-
-
-
-
4Gain-
UCHL3-
-
-
-
3Gain-
UCHL5-
-
-
-
5Amp-
UCK2-
-
-
-
4Gain-
UFC1-
-
-
-
4Gain-
UFM1-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGGT2-
-
-
-
3Gain-
UHMK1-
-
-
-
4Gain-
UMAD1-
-
-
-
3Gain-
UNC80p.G14S
Missense
SNP
0.528
2--
UNCX-
-
-
-
3Gain-
UPF2p.E1033D
Missense
SNP
0.471
2--
UPF3A-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
3Gain-
URAD-
-
-
-
3Gain-
URB2-
-
-
-
5Amp-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USF1-
-
-
-
4Gain-
USH2A-
-
-
-
5Amp-
USP12-
-
-
-
3Gain-
USP14-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP21-
-
-
-
4Gain-
USP42-
-
-
-
3Gain-
USP7p.A571T
Missense
SNP
0.497
2--
USPL1-
-
-
-
3Gain-
UTP14C-
-
-
-
3Gain-
UTP25-
-
-
-
5Amp-
VAMP4-
-
-
-
4Gain-
VANGL2-
-
-
-
4Gain-
VAPA-
-
-
-
3Gain-
VASH2-
-
-
-
5Amp-
VCLp.A1023T
Missense
SNP
0.529
2--
VEPH1p.D803N
Missense
SNP
0.487
2--
VGF-
-
-
-
3Gain-
VHLL-
-
-
-
4Gain-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS36-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
5Amp-
VPS4B-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VPS72-
-
-
-
5Amp-
VSIG8-
-
-
-
4Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2Bp.R147C
Missense
SNP
0.445
2--
VWA8-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
WASF3-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY2-
-
-
-
3Gain-
WDR26-
-
-
-
5Amp-
WDR60-
-
-
-
3Gain-
WDR64p.R967C
Missense
SNP
0.216
5Amp-
WDR7-
-
-
-
3Gain-
WDYHV1-
-
-
-
2-WDYHV1--MIA2
WEE2p.E35D
Missense
SNP
1.000
2--
WHSC1p.R501H
Missense
SNP
0.469
NDND-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WNT3A-
-
-
-
5Amp-
WNT9A-
-
-
-
5Amp-
WWOXp.A211T
Missense
SNP
0.392
2--
XCL1-
-
-
-
4Gain-
XCL2-
-
-
-
4Gain-
XPO4-
-
-
-
3Gain-
XPR1-
-
-
-
5Amp-
YAE1-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YOD1-
-
-
-
5Amp-
YWHAG-
-
-
-
3Gain-
YY1AP1-
-
-
-
4Gain-
ZADH2-
-
-
-
3Gain-
ZAN-
-
-
-
3Gain-
ZAR1L-
-
-
-
3Gain-
ZBED6-
-
-
-
5Amp-
ZBTB14-
-
-
-
3Gain-
ZBTB18p.R48Q
Missense
SNP
0.207
5Amp-
ZBTB34p.R392Q
Missense
SNP
0.433
2--
ZBTB37-
-
-
-
4Gain-
ZBTB41-
-
-
-
5Amp-
ZBTB45p.A201V
Missense
SNP
0.522
2--
ZBTB7B-
-
-
-
4Gain-
ZBTB7C-
-
-
-
3Gain-
ZC3H11A-
-
-
-
5Amp-
ZC3H13-
-
-
-
3Gain-
ZCCHC2-
-
-
-
3Gain-
ZCWPW1-
-
-
-
3Gain-
ZDHHC20-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFP64p.R195W
Missense
SNP
0.421
2--
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMYM2p.T29M
Missense
SNP
0.644
3Gain-
ZMYM5-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
5Amp-
ZNF138-
-
-
-
3Gain-
ZNF236p.R146H
Missense
SNP
0.378
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF281-
-
-
-
5Amp-
ZNF3-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF319p.R326W
Missense
SNP
0.492
2--
ZNF394-
-
-
-
3Gain-
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF407p.T1662M
Missense
SNP
0.420
3Gain-
ZNF479-
-
-
-
3Gain-
ZNF496-
-
-
-
5Amp-
ZNF516-
-
-
-
3Gain-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF532p.A889T
Missense
SNP
0.344
3Gain-
ZNF560p.R487C
Missense
SNP
0.471
2--
ZNF648-
-
-
-
5Amp-
ZNF655-
-
-
-
3Gain-
ZNF669-
-
-
-
5Amp-
ZNF670-
-
-
-
5Amp-
ZNF670-ZNF695-
-
-
-
5Amp-
ZNF672-
-
-
-
3Gain-
ZNF678-
-
-
-
5Amp-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF687-
-
-
-
5Amp-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
5Amp-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF831p.C1079Y
Missense
SNP
0.479
2--
ZNF853-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP1p.A460T
Missense
SNP
0.491
2--
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
5Amp-
ZPBP-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN30-
-
-
-
3Gain-