PDMR-791794~340-R~K7TB57-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AAAS-
-
-
-
3Gain-
AAGAB-
-
-
-
4Gain-
AAMP-
-
-
-
1Loss-
AARS2-
-
-
-
3Gain-
AASS-
-
-
-
1Loss-
ABCA12-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB1-
-
-
-
1Loss-
ABCB11-
-
-
-
1Loss-
ABCB4-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCB8-
-
-
-
1Loss-
ABCC1-
-
-
-
3Gain-
ABCC10-
-
-
-
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC6p.X648_splice
Splice_Site
SNP
0.339
3Gain-
ABCC8-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF2-
-
-
-
1Loss-
ABCF3p.E242Q
Missense
SNP
0.385
2--
ABCG1-
-
-
-
3Gain-
ABHD10-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD17C-
-
-
-
3Gain-
ABHD18p.R36K
Missense
SNP
1.000
1Loss-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3BPp.D355H
Missense
SNP
0.411
3Gain-
ABLIM2-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC000120.2-
-
-
-
1Loss-
AC000120.3-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC004922.1-
-
-
-
1Loss-
AC005020.2-
-
-
-
1Loss-
AC005779.2-
-
-
-
3Gain-
AC005943.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC008537.1-
-
-
-
1Loss-
AC009690.1-
-
-
-
4Gain-
AC009690.3-
-
-
-
4Gain-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC011005.1-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011530.1-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC018523.2-
-
-
-
1Loss-
AC021097.2-
-
-
-
1Loss-
AC021097.3-
-
-
-
1Loss-
AC021660.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC067968.1-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC068831.7-
-
-
-
3Gain-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
1Loss-
AC073111.5-
-
-
-
1Loss-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
3Gain-
AC090517.4-
-
-
-
3Gain-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC092442.1-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093668.1-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC097104.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC099489.1-
-
-
-
3Gain-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC107871.1-
-
-
-
4Gain-
AC112128.1-
-
-
-
3Gain-
AC113348.2-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
1Loss-
AC119674.2-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC138811.2-
-
-
-
3Gain-
AC139491.7-
-
-
-
3Gain-
AC140504.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243967.1-
-
-
-
1Loss-
AC245033.1-
-
-
-
3Gain-
AC245748.1-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD6p.E262K
Missense
SNP
0.461
2--
ACBD7-
-
-
-
1Loss-
ACER2-
-
-
-
3Gain-
ACHE-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT11-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACSBG1-
-
-
-
3Gain-
ACSL3-
-
-
-
1Loss-
ACSM1-
-
-
-
3Gain-
ACSM2A-
-
-
-
3Gain-
ACSM2B-
-
-
-
3Gain-
ACSM3-
-
-
-
3Gain-
ACSM5-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTB-
-
-
-
2-FBXL18--ACTB
ACTL6B-
-
-
-
1Loss-
ACTR3B-
-
-
-
1Loss-
ACTR3C-
-
-
-
1Loss-
ACVR1B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
ADAM10-
-
-
-
3Gain-
ADAM12-
-
-
-
1Loss-
ADAM22-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAMTS19p.K721E
Missense
SNP
0.532
2--
ADAMTS2p.C517Y
Missense
SNP
0.284
3Gain-
ADAMTS7-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL3-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADARB1-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK2-
-
-
-
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY1p.D953N
Missense
SNP
0.453
2--
ADCY5-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRD1-
-
-
-
3Gain-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5-
-
-
-
3Gain-
ADGRG7-
-
-
-
3Gain-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADPGK-
-
-
-
4Gain-
ADPRH-
-
-
-
3Gain-
ADRA2C-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGAP2-
-
-
-
3Gain-
AGAP3-
-
-
-
1Loss-
AGBL3-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGFG2-
-
-
-
1Loss-
AGK-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPAT3-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AHCYL2-
-
-
-
1Loss-
AIRE-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP13p.E817K
Missense
SNP
0.489
2--
AKAP9-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKR1B1-
-
-
-
1Loss-
AKR1B10-
-
-
-
1Loss-
AKR1B15-
-
-
-
1Loss-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL353588.1-
-
-
-
3Gain-
AL355312.5-
-
-
-
1Loss-
AL357673.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445685.3-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
3Gain-
ALG13p.Q832E
Missense
SNP
0.204
NDND-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG6-
-
-
-
1Loss-
ALKAL1-
-
-
-
1Loss-
ALKBH4-
-
-
-
1Loss-
ALMS1p.E2925*
p.M2942I
Nonsense
Missense
SNP
SNP
0.480
0.461
2--
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX1-
-
-
-
3Gain-
AMER1p.L454F
Missense
SNP
0.528
NDND-
AMHR2-
-
-
-
3Gain-
AMN1p.D75H
Missense
SNP
0.428
2--
AMOTL2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANAPC4-
-
-
-
1Loss-
ANGPTL3-
-
-
-
1Loss-
ANHX-
-
-
-
3Gain-
ANK3p.E1040Q
Missense
SNP
0.462
2--
ANKDD1A-
-
-
-
3Gain-
ANKHD1-EIF4EBP3p.S29W
Missense
SNP
0.514
2--
ANKIB1-
-
-
-
1Loss-
ANKLE2-
-
-
-
3Gain-
ANKMY1-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD33-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34C-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD50-
-
-
-
1Loss-
ANKRD52-
-
-
-
3Gain-
ANKRD66-
-
-
-
3Gain-
ANKRD7-
-
-
-
1Loss-
ANKS4B-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
4Gain-
ANP32E-
-
-
-
3Gain-
ANXA2-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AOC1-
-
-
-
1Loss-
AOX1-
-
-
-
1Loss-
AP1S1-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2S1-
-
-
-
3Gain-
AP3B2-
-
-
-
3Gain-
AP4E1-
-
-
-
3Gain-
AP4M1-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APMAPp.E352K
Missense
SNP
0.575
2--
APOC1-
-
-
-
3Gain-
APOC2-
-
-
-
3Gain-
APOC4-APOC2-
-
-
-
3Gain-
APOE-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APTX-
-
-
-
3Gain-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP8-
-
-
-
3Gain-
AQP9-
-
-
-
3Gain-
ARAP1p.Q950H
Missense
SNP
0.451
2--
ARAP2-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARF5-
-
-
-
1Loss-
ARFGAP1p.H95Y
Missense
SNP
0.365
2--
ARFIP2-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP17-
-
-
-
3Gain-
ARHGAP21-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP35-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP44p.S160F
Missense
SNP
0.545
2--
ARHGAP45-
-
-
-
1Loss-
ARHGAP8-
-
-
-
3Gain-
ARHGAP9-
-
-
-
3Gain-
ARHGEF1-
-
-
-
1Loss-
ARHGEF17p.L2006P
Missense
DNP
0.465
2--
ARHGEF25-
-
-
-
3Gain-
ARHGEF40-
-
-
-
1Loss-
ARHGEF5-
-
-
-
1Loss-
ARID1B-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
3Gain-
ARID4Ap.K558N
Missense
SNP
0.463
2--
ARIH1-
-
-
-
4Gain-
ARIH2OSp.S56L
Missense
SNP
0.457
2--
ARL10-
-
-
-
3Gain-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL4C-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP1-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
3Gain-
ARMC10-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC9-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC1A-
-
-
-
1Loss-
ARPC1B-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB10p.S282L
Missense
SNP
1.000
1Loss-
ASB13-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB4-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASIC3-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASNS-
-
-
-
1Loss-
ASPH-
-
-
-
1Loss-
ASPNp.D108H
Missense
SNP
0.482
2--
ASTE1-
-
-
-
3Gain-
ASZ1-
-
-
-
1Loss-
ATF1-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP2-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG4B-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG7-
-
-
-
3Gain-
ATG9A-
-
-
-
1Loss-
ATG9B-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATP10Ap.Q1461K
Missense
SNP
0.451
2--
ATP10D-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
ATP23-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2B2-
-
-
-
3Gain-
ATP2C1p.Q626R
Missense
SNP
0.345
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MC2-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP5MF-
-
-
-
1Loss-
ATP5MF-PTCD1-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
1Loss-
ATP6V1A-
-
-
-
3Gain-
ATP6V1D-
-
-
-
3Gain-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1H-
-
-
-
1Loss-
ATP7Ap.L841H
p.Q1021P
Missense
Missense
SNP
SNP
0.556
0.333
NDND-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8B2p.L75V
Missense
SNP
0.443
2--
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
3Gain-
ATXN10-
-
-
-
3Gain-
ATXN7L1-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AXL-
-
-
-
1Loss-
AZGP1-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B3GALT1-
-
-
-
1Loss-
B3GALT5-
-
-
-
3Gain-
B3GNT7-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B4GALNT1-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT7-
-
-
-
3Gain-
B9D2-
-
-
-
1Loss-
BAATp.L278I
Missense
SNP
0.532
2--
BACE2-
-
-
-
3Gain-
BACH2p.E204K
Missense
SNP
0.445
2--
BAIAP2L1-
-
-
-
1Loss-
BAMBI-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BAZ2A-
-
-
-
3Gain-
BBC3-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS4-
-
-
-
4Gain-
BBS5-
-
-
-
1Loss-
BBX-
-
-
-
3Gain-
BCAM-
-
-
-
3Gain-
BCAP29-
-
-
-
1Loss-
BCAS3p.S171L
Missense
SNP
1.000
2--
BCCIP-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL2p.F151I
Missense
SNP
0.442
2--
BCL2A1-
-
-
-
3Gain-
BCL2L10-
-
-
-
3Gain-
BCL3-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCS1L-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST3-
-
-
-
3Gain-
BET1-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BFAR-
-
-
-
3Gain-
BFSP2-
-
-
-
3Gain-
BHLHA15-
-
-
-
1Loss-
BHLHE22-
-
-
-
1Loss-
BHLHE40-
-
-
-
3Gain-
BHMG1-
-
-
-
3Gain-
BICRA-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLM-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S3-
-
-
-
3Gain-
BLOC1S4-
-
-
-
1Loss-
BLVRB-
-
-
-
1Loss-
BLZF1p.S168F
Missense
SNP
0.500
2--
BMI1-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC1-
-
-
-
3Gain-
BNC2-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOD1-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BORA-
-
-
-
1Loss-
BPGM-
-
-
-
1Loss-
BPIp.I116M
Missense
SNP
0.510
2--
BRAF-
-
-
-
1Loss-
BRCA1p.S864*
Nonsense
SNP
1.000
2--
BRD1-
-
-
-
3Gain-
BRD7p.D415H
Missense
SNP
0.559
2--
BRI3-
-
-
-
1Loss-
BRK1-
-
-
-
3Gain-
BRPF1-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BSPH1-
-
-
-
3Gain-
BST1-
-
-
-
1Loss-
BTBD1-
-
-
-
3Gain-
BTBD10-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG1-
-
-
-
3Gain-
BTLA-
-
-
-
3Gain-
BTNL3-
-
-
-
3Gain-
BTNL8-
-
-
-
3Gain-
BTNL9-
-
-
-
3Gain-
BUD31-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74p.S44L
Missense
SNP
0.493
2--
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf61-
-
-
-
4Gain-
C15orf65-
-
-
-
3Gain-
C16orf45-
-
-
-
3Gain-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C1orf123-
-
-
-
1Loss-
C1orf141-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf87-
-
-
-
1Loss-
C1QL3-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C21orf58-
-
-
-
3Gain-
C2CD2-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4orf19-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C5AR1-
-
-
-
3Gain-
C5AR2-
-
-
-
3Gain-
C5orf47-
-
-
-
3Gain-
C5orf60-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf141-
-
-
-
3Gain-
C6orf223-
-
-
-
3Gain-
C7orf33-
-
-
-
1Loss-
C7orf43-
-
-
-
1Loss-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
1Loss-
C7orf61-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8orf82-
-
-
-
3Gain-
C9orf50p.N238S
Missense
SNP
0.444
2--
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA12-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA8-
-
-
-
1Loss-
CAAP1-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABP5-
-
-
-
3Gain-
CACHD1-
-
-
-
1Loss-
CACNA2D1-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNG3-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM4-
-
-
-
3Gain-
CADPS2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
3Gain-
CALCR-
-
-
-
1Loss-
CALD1-
-
-
-
1Loss-
CALM3-
-
-
-
3Gain-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
4Gain-
CALML5-
-
-
-
1Loss-
CALU-
-
-
-
1Loss-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
3Gain-
CAMK1D-
-
-
-
1Loss-
CAMSAP2-
-
-
-
1Loss-
CAND1-
-
-
-
3Gain-
CANX-
-
-
-
3Gain-
CAPN10-
-
-
-
1Loss-
CAPN11-
-
-
-
3Gain-
CAPS2p.S376F
Missense
SNP
0.672
3Gain-
CAPZA2-
-
-
-
1Loss-
CARF-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASD1-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP2-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CASTOR3-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAV3-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLC-
-
-
-
3Gain-
CBLL1-
-
-
-
1Loss-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBSL-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CBY3-
-
-
-
3Gain-
CC2D1B-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CCDC136-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC168-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC171p.K540*
Nonsense
SNP
0.233
3Gain-
CCDC173-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC33-
-
-
-
4Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC61-
-
-
-
3Gain-
CCDC68p.L271F
Missense
SNP
0.652
2--
CCDC70-
-
-
-
1Loss-
CCDC71L-
-
-
-
1Loss-
CCDC8-
-
-
-
3Gain-
CCDC80-
-
-
-
3Gain-
CCDC9-
-
-
-
3Gain-
CCDC96-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCER1-
-
-
-
3Gain-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCNB2-
-
-
-
3Gain-
CCNYL1-
-
-
-
1Loss-
CCP110-
-
-
-
3Gain-
CCPG1-
-
-
-
3Gain-
CCR3p.R87Q
Missense
SNP
1.000
2--
CCR6-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD177-
-
-
-
0Del-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD274-
-
-
-
3Gain-
CD276-
-
-
-
4Gain-
CD28-
-
-
-
1Loss-
CD2AP-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD3EAP-
-
-
-
3Gain-
CD47-
-
-
-
3Gain-
CD55p.Q352*
Nonsense
SNP
0.454
2--
CD63-
-
-
-
3Gain-
CD79A-
-
-
-
1Loss-
CD80-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD86-
-
-
-
3Gain-
CD93p.S523C
Missense
SNP
0.410
2--
CD96-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC23p.S578F
Missense
SNP
0.500
2--
CDC25Cp.E422Q
Missense
SNP
0.538
2--
CDC34-
-
-
-
1Loss-
CDC37L1-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42BPBp.G473D
Missense
SNP
0.441
2--
CDC42SE1-
-
-
-
3Gain-
CDC5L-
-
-
-
3Gain-
CDCP2-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDHR2-
-
-
-
3Gain-
CDHR3-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK14-
-
-
-
1Loss-
CDK15-
-
-
-
1Loss-
CDK2-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK6-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2B-
-
-
-
3Gain-
CDNF-
-
-
-
1Loss-
CDPF1-
-
-
-
3Gain-
CDR2-
-
-
-
3Gain-
CDV3-
-
-
-
3Gain-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
3Gain-
CEACAM19-
-
-
-
3Gain-
CEACAM20-
-
-
-
3Gain-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5p.Q172E
Missense
SNP
1.000
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPBp.K315N
Missense
SNP
0.391
2--
CELA1-
-
-
-
3Gain-
CELF2-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF6-
-
-
-
4Gain-
CELSR1-
-
-
-
3Gain-
CEMIP-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPCp.Q374*
Nonsense
SNP
0.618
2--
CENPP-
-
-
-
3Gain-
CENPQ-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP41-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CER1-
-
-
-
3Gain-
CERK-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS6-
-
-
-
1Loss-
CES1p.F356C
Missense
SNP
0.500
2--
CFAP100-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP410-
-
-
-
3Gain-
CFAP44-
-
-
-
3Gain-
CFAP46p.A1328T
Missense
SNP
1.000
1Loss-
CFAP65-
-
-
-
1Loss-
CFAP69-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFLARp.D14H
Missense
SNP
1.000
1Loss-
CFTR-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CHAF1B-
-
-
-
3Gain-
CHCHD3-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHCHD7-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD7-
-
-
-
1Loss-
CHFR-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHL1-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHP2-
-
-
-
3Gain-
CHPF-
-
-
-
1Loss-
CHPF2-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRM2-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA3-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHRNB4-
-
-
-
3Gain-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST13-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CICp.E1368Q
Missense
SNP
1.000
1Loss-
CIDEC-
-
-
-
3Gain-
CIITA-
-
-
-
3Gain-
CILP-
-
-
-
3Gain-
CIP2A-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKM-
-
-
-
3Gain-
CLASRP-
-
-
-
3Gain-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCN1-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLDN12-
-
-
-
1Loss-
CLDN14-
-
-
-
3Gain-
CLDN15-
-
-
-
1Loss-
CLDN18-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC16A-
-
-
-
3Gain-
CLEC19A-
-
-
-
3Gain-
CLEC2L-
-
-
-
1Loss-
CLEC5A-
-
-
-
1Loss-
CLECL1p.P62A
Missense
SNP
0.422
2--
CLGN-
-
-
-
1Loss-
CLIC5-
-
-
-
3Gain-
CLK1-
-
-
-
1Loss-
CLK3-
-
-
-
3Gain-
CLK4-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
4Gain-
CLNK-
-
-
-
1Loss-
CLPTM1-
-
-
-
3Gain-
CLPX-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLTB-
-
-
-
3Gain-
CLVS1-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMSS1-
-
-
-
3Gain-
CNBD1p.D286N
Missense
SNP
1.000
2--
CNBP-
-
-
-
3Gain-
CNFN-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT2-
-
-
-
3Gain-
CNOT4-
-
-
-
1Loss-
CNOT6-
-
-
-
3Gain-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY1-
-
-
-
1Loss-
CNPY2-
-
-
-
3Gain-
CNPY4-
-
-
-
1Loss-
CNTLN-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
3Gain-
CNTN6-
-
-
-
3Gain-
CNTNAP2-
-
-
-
1Loss-
COA7-
-
-
-
1Loss-
COG3-
-
-
-
2-COG3--MYO16
COG5-
-
-
-
1Loss-
COG7-
-
-
-
3Gain-
COILp.P567A
Missense
SNP
1.000
2--
COL18A1-
-
-
-
3Gain-
COL1A2-
-
-
-
1Loss-
COL23A1-
-
-
-
3Gain-
COL24A1-
-
-
-
1Loss-
COL26A1-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A1p.Q1002*
Nonsense
SNP
0.481
2--
COL6A1-
-
-
-
3Gain-
COL6A2-
-
-
-
3Gain-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL8A1-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
3Gain-
COMMD6-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPG1-
-
-
-
3Gain-
COPG2-
-
-
-
1Loss-
COPS6-
-
-
-
1Loss-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ10B-
-
-
-
1Loss-
COQ7-
-
-
-
3Gain-
COQ8B-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO2B-
-
-
-
4Gain-
COX11-
-
-
-
3Gain-
COX17-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX5A-
-
-
-
3Gain-
COX7B2-
-
-
-
1Loss-
CPA1-
-
-
-
1Loss-
CPA2-
-
-
-
1Loss-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPEB1-
-
-
-
3Gain-
CPEB2-
-
-
-
1Loss-
CPEB4-
-
-
-
3Gain-
CPED1-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX2-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPM-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE9-
-
-
-
3Gain-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPPED1-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPSF1-
-
-
-
3Gain-
CPSF4-
-
-
-
1Loss-
CPSF6-
-
-
-
3Gain-
CPT2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRABP1-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
3Gain-
CRBN-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB3L2-
-
-
-
1Loss-
CRELD1-
-
-
-
3Gain-
CRIP3-
-
-
-
3Gain-
CRISP1-
-
-
-
3Gain-
CRISP2-
-
-
-
3Gain-
CRISP3-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CROT-
-
-
-
1Loss-
CRTC3-
-
-
-
3Gain-
CRX-
-
-
-
3Gain-
CRYAA-
-
-
-
3Gain-
CRYAA2-
-
-
-
3Gain-
CRYBA2-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGN-
-
-
-
1Loss-
CRYM-
-
-
-
3Gain-
CRYZ-
-
-
-
1Loss-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSK-
-
-
-
3Gain-
CSNK1A1Lp.E255K
Missense
SNP
0.477
2--
CSNK1G1-
-
-
-
3Gain-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSPG4-
-
-
-
3Gain-
CSRNP2-
-
-
-
3Gain-
CSRNP3-
-
-
-
1Loss-
CSRP2-
-
-
-
3Gain-
CSTA-
-
-
-
3Gain-
CSTB-
-
-
-
3Gain-
CT62-
-
-
-
4Gain-
CTAGE4-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTH-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSH-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CTU2p.Q198E
Missense
SNP
0.466
2--
CUBN-
-
-
-
1Loss-
CUL1-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUL9p.A1124T
Missense
SNP
0.513
2--
CUX1-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXorf21p.S3L
Missense
SNP
0.532
NDND-
CYB5R2-
-
-
-
1Loss-
CYB5RL-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11A1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP20A1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27B1-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2J2-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP39A1-
-
-
-
3Gain-
CYP3A4-
-
-
-
1Loss-
CYP3A43-
-
-
-
1Loss-
CYP3A5-
-
-
-
1Loss-
CYP3A7-
-
-
-
1Loss-
CYP3A7-CYP3A51P-
-
-
-
1Loss-
CYP51A1-
-
-
-
1Loss-
CYP7A1-
-
-
-
1Loss-
CYP7B1-
-
-
-
1Loss-
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAB1-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DACT3-
-
-
-
3Gain-
DAPK1p.H166Y
Missense
SNP
0.577
2--
DAPK2-
-
-
-
3Gain-
DAW1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
3Gain-
DBF4-
-
-
-
1Loss-
DBN1-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCBLD2-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCHS1-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCN-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTN2-
-
-
-
3Gain-
DCTN5-
-
-
-
3Gain-
DCUN1D3-
-
-
-
3Gain-
DDAH1-
-
-
-
1Loss-
DDIT3-
-
-
-
3Gain-
DDX41-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX58-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEDD2-
-
-
-
1Loss-
DEFB110-
-
-
-
3Gain-
DEFB112-
-
-
-
3Gain-
DEFB113-
-
-
-
3Gain-
DEFB114-
-
-
-
3Gain-
DEFB133-
-
-
-
3Gain-
DENND2A-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DEPDC1-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DGKI-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DHCR24-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX34-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIO1-
-
-
-
1Loss-
DIP2A-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DIP2C-
-
-
-
1Loss-
DIRAS3-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DIS3L2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLD-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLK2-
-
-
-
3Gain-
DLL1-
-
-
-
1Loss-
DLX5-
-
-
-
1Loss-
DLX6-
-
-
-
1Loss-
DMAC1-
-
-
-
3Gain-
DMAC2-
-
-
-
1Loss-
DMPK-
-
-
-
3Gain-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMRTB1-
-
-
-
1Loss-
DMRTC2-
-
-
-
1Loss-
DMTF1-
-
-
-
1Loss-
DMWD-
-
-
-
3Gain-
DMXL2-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH10p.E2333Q
Missense
SNP
0.473
2--
DNAH2p.K1060R
Missense
SNP
0.518
2--
DNAH3p.E992G
Missense
SNP
0.651
3Gain-
DNAH7p.P230S
Missense
SNP
0.439
2--
DNAJA1-
-
-
-
3Gain-
DNAJA4-
-
-
-
3Gain-
DNAJB2-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB6p.R287W
Missense
SNP
1.000
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJB9-
-
-
-
1Loss-
DNAJC1-
-
-
-
1Loss-
DNAJC13-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC2-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC6-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNHD1p.R4333G
Missense
SNP
1.000
1Loss-
DNMT3L-
-
-
-
3Gain-
DNPEP-
-
-
-
1Loss-
DNPH1-
-
-
-
5Amp-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOK3-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DOP1B-
-
-
-
3Gain-
DPH6p.R75T
Missense
SNP
0.452
2--
DPP6-
-
-
-
1Loss-
DPP8-
-
-
-
3Gain-
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPYSL4-
-
-
-
1Loss-
DRC3p.L94V
Missense
SNP
0.497
2--
DRD1-
-
-
-
3Gain-
DRD3-
-
-
-
3Gain-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC3p.L18V
Missense
SNP
0.500
2--
DSCAM-
-
-
-
3Gain-
DTHD1-
-
-
-
1Loss-
DTWD1-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DTX3L-
-
-
-
3Gain-
DTYMK-
-
-
-
1Loss-
DUS4L-
-
-
-
1Loss-
DUSP28-
-
-
-
1Loss-
DUSP6-
-
-
-
3Gain-
DUSP8-
-
-
-
1Loss-
DYNC1I1-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK1A-
-
-
-
3Gain-
DYRK1Bp.E191Q
Missense
SNP
0.511
2--
DYRK2-
-
-
-
3Gain-
DYTN-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
DZIP3-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
EAF2-
-
-
-
3Gain-
EARS2-
-
-
-
3Gain-
EBF3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECEL1-
-
-
-
1Loss-
ECHDC2-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDEM1-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
3Gain-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEF2K-
-
-
-
3Gain-
EEFSEC-
-
-
-
3Gain-
EFCAB10-
-
-
-
1Loss-
EFCAB12-
-
-
-
3Gain-
EFCAB5p.E1456*
Nonsense
SNP
0.482
2--
EFCAB6-
-
-
-
3Gain-
EFCAB7-
-
-
-
1Loss-
EFCC1-
-
-
-
3Gain-
EFHD1-
-
-
-
1Loss-
EFL1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EGLN2-
-
-
-
1Loss-
EHD2-
-
-
-
3Gain-
EIF1p.Q37H
Missense
SNP
0.541
2--
EIF2S1-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF4B-
-
-
-
3Gain-
EIF4E1B-
-
-
-
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL2-
-
-
-
3Gain-
ELF2-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELMOD2-
-
-
-
1Loss-
ELSPBP1-
-
-
-
3Gain-
EMC3-
-
-
-
3Gain-
EMILIN3p.V222I
Missense
SNP
0.503
2--
EML2-
-
-
-
3Gain-
EMP2-
-
-
-
3Gain-
EN2-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENPP4-
-
-
-
3Gain-
ENPP5-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTPD1p.L495V
Missense
SNP
0.444
2--
EOGT-
-
-
-
1Loss-
EP400-
-
-
-
3Gain-
EPDR1p.R40H
Missense
SNP
0.571
2--
EPHA1-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB4-
-
-
-
1Loss-
EPHB6-
-
-
-
1Loss-
EPO-
-
-
-
1Loss-
EPPIN-WFDC6p.E156K
Missense
SNP
0.477
2--
EPPK1-
-
-
-
3Gain-
EPS15-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERBB3p.E745Q
Missense
SNP
0.366
3Gain-
ERBB4-
-
-
-
1Loss-
ERCC1-
-
-
-
3Gain-
ERCC2-
-
-
-
3Gain-
ERCC4-
-
-
-
3Gain-
ERCC5-
-
-
-
1Loss-
ERCC6L2p.E271K
Missense
SNP
0.491
2--
ERF-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
3Gain-
ERI2-
-
-
-
3Gain-
ERICH2-
-
-
-
1Loss-
ERICH3-
-
-
-
1Loss-
ERICH4-
-
-
-
1Loss-
ERICH6B-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
3Gain-
ERN2-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESPL1p.Q295*
Nonsense
SNP
0.289
3Gain-
ESPNL-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESYT1p.E715K
Missense
SNP
0.427
3Gain-
ESYT2-
-
-
-
1Loss-
ETFA-
-
-
-
3Gain-
ETHE1-
-
-
-
3Gain-
ETS2-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EXOC3L2-
-
-
-
3Gain-
EXOC4-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC5-
-
-
-
1Loss-
EZH2-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F12-
-
-
-
3Gain-
FADS1p.L198R
Missense
DNP
0.477
2--
FAF2-
-
-
-
3Gain-
FAH-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM110B-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM117B-
-
-
-
1Loss-
FAM118A-
-
-
-
3Gain-
FAM120B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM131B-
-
-
-
1Loss-
FAM133B-
-
-
-
1Loss-
FAM151A-
-
-
-
1Loss-
FAM153A-
-
-
-
3Gain-
FAM153B-
-
-
-
3Gain-
FAM153C-
-
-
-
3Gain-
FAM155A-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM171A1-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM180A-
-
-
-
1Loss-
FAM184Bp.Q908*
Nonsense
SNP
1.000
1Loss-
FAM185A-
-
-
-
1Loss-
FAM186A-
-
-
-
3Gain-
FAM189A2-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM193B-
-
-
-
3Gain-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
3Gain-
FAM200A-
-
-
-
1Loss-
FAM200B-
-
-
-
1Loss-
FAM207A-
-
-
-
3Gain-
FAM208B-
-
-
-
1Loss-
FAM20C-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM219B-
-
-
-
3Gain-
FAM21Cp.Q916H
Missense
SNP
0.473
NDND-
FAM234Ap.S525C
Missense
SNP
0.530
2--
FAM237A-
-
-
-
1Loss-
FAM3B-
-
-
-
3Gain-
FAM3C-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM71D-
-
-
-
3Gain-
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM81A-
-
-
-
3Gain-
FAM83Ep.L354V
Missense
SNP
0.465
2--
FAM83H-
-
-
-
3Gain-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FANK1-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASTK-
-
-
-
1Loss-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FAT1p.Q725*
Nonsense
SNP
1.000
2--
FAT4-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLN1-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL13-
-
-
-
1Loss-
FBXL18-
-
-
-
2-FBXL18--ACTB
FBXL22-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO22-
-
-
-
3Gain-
FBXO24-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO46-
-
-
-
3Gain-
FBXO5-
-
-
-
1Loss-
FCGR1A-
-
-
-
3Gain-
FEM1B-
-
-
-
4Gain-
FES-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZF1-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFR4-
-
-
-
3Gain-
FGFRL1-
-
-
-
1Loss-
FGGY-
-
-
-
1Loss-
FIGNL2-
-
-
-
3Gain-
FILIP1L-
-
-
-
3Gain-
FIS1-
-
-
-
1Loss-
FKRP-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLIIp.R431Q
Missense
DNP
0.477
2--
FLNC-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FLT4-
-
-
-
3Gain-
FMC1-
-
-
-
1Loss-
FMO5-
-
-
-
3Gain-
FN1-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FOCAD-
-
-
-
3Gain-
FOPNL-
-
-
-
3Gain-
FOSB-
-
-
-
3Gain-
FOXA3-
-
-
-
3Gain-
FOXB1-
-
-
-
3Gain-
FOXD3-
-
-
-
1Loss-
FOXG1-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXI2-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FP565260.1-
-
-
-
3Gain-
FP565260.2-
-
-
-
3Gain-
FP565260.3-
-
-
-
3Gain-
FP565260.4-
-
-
-
3Gain-
FP565260.6-
-
-
-
3Gain-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FREM1-
-
-
-
3Gain-
FREM3-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMPD2p.E80Q
Missense
SNP
0.432
2--
FRS2-
-
-
-
3Gain-
FRYL-
-
-
-
1Loss-
FSCN3-
-
-
-
1Loss-
FSD2-
-
-
-
3Gain-
FSTL1-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
3Gain-
FTCDNL1-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FYB2-
-
-
-
1Loss-
FYNp.D99H
Missense
SNP
0.311
2--
FZD1-
-
-
-
1Loss-
FZD10-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
G6PC2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GABARAPp.E19D
Missense
SNP
0.442
2--
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GAD1-
-
-
-
1Loss-
GAD2-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GAL3ST4-
-
-
-
1Loss-
GALNT11-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT6-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GALNTL5-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GATA2-
-
-
-
3Gain-
GATA3-
-
-
-
1Loss-
GATAD1-
-
-
-
1Loss-
GATB-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
3Gain-
GATD3B-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBX1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCC1-
-
-
-
1Loss-
GCNT3-
-
-
-
3Gain-
GCOM1-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GDE1-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDI2-
-
-
-
1Loss-
GDPGP1-
-
-
-
3Gain-
GEMIN4p.Q580H
Missense
SNP
0.577
2--
GEMIN7-
-
-
-
3Gain-
GEN1p.S269L
Missense
SNP
0.502
2--
GET4p.S31C
Missense
SNP
0.310
3Gain-
GFPT2-
-
-
-
3Gain-
GGA2-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGH-
-
-
-
1Loss-
GHRL-
-
-
-
3Gain-
GIGYF1-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMAP1-
-
-
-
1Loss-
GIMAP1-GIMAP5-
-
-
-
1Loss-
GIMAP2-
-
-
-
1Loss-
GIMAP4-
-
-
-
1Loss-
GIMAP5-
-
-
-
1Loss-
GIMAP6-
-
-
-
1Loss-
GIMAP7-
-
-
-
1Loss-
GIMAP8-
-
-
-
1Loss-
GINM1-
-
-
-
1Loss-
GIPC2-
-
-
-
1Loss-
GIPR-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC3-
-
-
-
1Loss-
GJE1p.Y116C
Missense
SNP
0.479
2--
GLB1L-
-
-
-
1Loss-
GLCE-
-
-
-
4Gain-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
3Gain-
GLRX3-
-
-
-
1Loss-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLYATL3-
-
-
-
3Gain-
GMCL2-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GNB2-
-
-
-
1Loss-
GNB5-
-
-
-
3Gain-
GNG11-
-
-
-
1Loss-
GNG12-
-
-
-
1Loss-
GNG5-
-
-
-
1Loss-
GNG8-
-
-
-
3Gain-
GNGT1-
-
-
-
1Loss-
GNL2p.E509K
Missense
SNP
0.493
2--
GNPDA2-
-
-
-
1Loss-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4p.R258Q
p.L442F
Missense
Missense
SNP
SNP
1.000
1.000
3Gain-
GOLGA6B-
-
-
-
4Gain-
GOLGB1p.R1192H
Missense
SNP
0.346
3Gain-
GOLPH3L-
-
-
-
3Gain-
GP2-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC2-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPR1-
-
-
-
1Loss-
GPR139-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
3Gain-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR22-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR31-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR37-
-
-
-
1Loss-
GPR4-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR84-
-
-
-
3Gain-
GPR85-
-
-
-
1Loss-
GPR89A-
-
-
-
1Loss-
GPR89B-
-
-
-
3Gain-
GPRC5B-
-
-
-
3Gain-
GPRIN1-
-
-
-
3Gain-
GPTp.S311C
Missense
SNP
0.280
3Gain-
GPX1p.D172H
p.D159H
Missense
Missense
SNP
SNP
1.000
1.000
2--
GPX4-
-
-
-
1Loss-
GPX7-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
4Gain-
GRAMD4-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRHL3p.R447W
Missense
SNP
0.491
2--
GRIK5-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRK6-
-
-
-
3Gain-
GRM3-
-
-
-
1Loss-
GRM6-
-
-
-
3Gain-
GRM7-
-
-
-
3Gain-
GRM8-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GSDMD-
-
-
-
3Gain-
GSK3A-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSPT1-
-
-
-
3Gain-
GSTK1-
-
-
-
1Loss-
GSTO1p.M206I
Missense
SNP
0.514
2--
GTF2A2-
-
-
-
3Gain-
GTF2E1-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTPBP10-
-
-
-
1Loss-
GTPBP2-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GTSE1-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUF1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2BFS-
-
-
-
3Gain-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
3Gain-
HAP1p.Q337E
Missense
SNP
0.393
2--
HAPLN4p.D316N
Missense
SNP
0.409
2--
HAUS3-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN4-
-
-
-
4Gain-
HDAC3p.L261V
Missense
SNP
0.371
2--
HDAC4-
-
-
-
1Loss-
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HECTD1p.E1878K
p.K1768N
Missense
Missense
SNP
SNP
0.581
0.548
2--
HEG1-
-
-
-
3Gain-
HELB-
-
-
-
3Gain-
HELZp.Q1726*
Nonsense
SNP
0.579
2--
HEPACAM2-
-
-
-
1Loss-
HERC1-
-
-
-
3Gain-
HERC2p.S4062C
Missense
SNP
0.557
2--
HERC4p.Q138H
Missense
SNP
0.456
2--
HES6-
-
-
-
1Loss-
HEXA-
-
-
-
4Gain-
HGD-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HHIP-
-
-
-
1Loss-
HHLA2-
-
-
-
3Gain-
HHLA3-
-
-
-
1Loss-
HIF3A-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIGD2A-
-
-
-
3Gain-
HIGD2B-
-
-
-
4Gain-
HILPDA-
-
-
-
1Loss-
HIPK2-
-
-
-
1Loss-
HIPK4-
-
-
-
1Loss-
HIST1H2AMp.E122K
Missense
SNP
0.467
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HJURP-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
3Gain-
HLCS-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMG20A-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HMGN1-
-
-
-
3Gain-
HMX1-
-
-
-
1Loss-
HNF4Gp.S157*
Nonsense
SNP
0.420
2--
HNRNPA1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
3Gain-
HNRNPC-
-
-
-
1Loss-
HNRNPH1-
-
-
-
3Gain-
HNRNPMp.L142V
Missense
SNP
0.375
2--
HNRNPUL1-
-
-
-
1Loss-
HNRNPUL2p.P635L
Missense
SNP
0.550
2--
HOMER2p.R81K
Missense
SNP
0.381
3Gain-
HOOK1-
-
-
-
1Loss-
HORMAD1p.S376F
Missense
SNP
0.253
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRH1-
-
-
-
3Gain-
HRH2-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HS3ST2-
-
-
-
3Gain-
HS3ST4-
-
-
-
3Gain-
HS6ST3-
-
-
-
1Loss-
HSD17B6-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSF2BP-
-
-
-
3Gain-
HSP90AB1-
-
-
-
3Gain-
HSPA14-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPB11-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HSPG2p.E2539*
Nonsense
SNP
0.479
2--
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR5A-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HYAL4-
-
-
-
1Loss-
HYKK-
-
-
-
3Gain-
ICA1L-
-
-
-
1Loss-
ICE2-
-
-
-
3Gain-
ICOS-
-
-
-
1Loss-
ICOSLG-
-
-
-
3Gain-
IDH1-
-
-
-
1Loss-
IDH3A-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IFI35p.E225K
Missense
SNP
0.418
2--
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNK-
-
-
-
3Gain-
IFNW1-
-
-
-
3Gain-
IFRD1-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT22-
-
-
-
1Loss-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2R-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFBP6-
-
-
-
3Gain-
IGFL1-
-
-
-
3Gain-
IGFL2-
-
-
-
3Gain-
IGFL3-
-
-
-
3Gain-
IGFL4-
-
-
-
3Gain-
IGFN1p.V3645I
Missense
SNP
0.479
2--
IGSF11-
-
-
-
3Gain-
IGSF23-
-
-
-
3Gain-
IGSF5-
-
-
-
3Gain-
IGSF6-
-
-
-
3Gain-
IHH-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IKZF4-
-
-
-
3Gain-
IL12RB2-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL16-
-
-
-
3Gain-
IL17RC-
-
-
-
3Gain-
IL17RE-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL23R-
-
-
-
1Loss-
IL26-
-
-
-
3Gain-
IL2RA-
-
-
-
1Loss-
IL33-
-
-
-
3Gain-
IL5RA-
-
-
-
3Gain-
ILDR1-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMMP2L-
-
-
-
1Loss-
IMP3-
-
-
-
3Gain-
IMPAD1-
-
-
-
1Loss-
IMPDH1-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
INAFM1-
-
-
-
3Gain-
ING3-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INO80D-
-
-
-
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5A-
-
-
-
1Loss-
INPP5Dp.Q857E
Missense
SNP
1.000
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG1-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
3Gain-
INSYN1-
-
-
-
4Gain-
INSYN2-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS14-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCH-
-
-
-
4Gain-
IQCK-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQUB-
-
-
-
1Loss-
IRAK2-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IREB2-
-
-
-
3Gain-
IRF2BP1-
-
-
-
3Gain-
IRF5-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRGC-
-
-
-
3Gain-
IRGQ-
-
-
-
3Gain-
IRS1-
-
-
-
1Loss-
IRX5p.L106R
Missense
SNP
0.481
2--
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
4Gain-
ISLR2-
-
-
-
4Gain-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
4Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA8-
-
-
-
1Loss-
ITGA9-
-
-
-
3Gain-
ITGB2-
-
-
-
3Gain-
ITGB3BP-
-
-
-
1Loss-
ITGB5-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH4p.E143K
Missense
SNP
1.000
2--
ITIH5-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPKC-
-
-
-
1Loss-
ITPR1-
-
-
-
3Gain-
ITPRIPL2-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
IZUMO3-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAGN1p.P93S
Missense
SNP
0.633
3Gain-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAKMIP1-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JCAD-
-
-
-
6Amp-
JRK-
-
-
-
3Gain-
JUN-
-
-
-
1Loss-
KALRN-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANK4-
-
-
-
1Loss-
KANSL1L-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD13-
-
-
-
3Gain-
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
3Gain-
KCND2-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNH2-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ6-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNN4-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNV2-
-
-
-
3Gain-
KCP-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDM4C-
-
-
-
3Gain-
KDM7A-
-
-
-
1Loss-
KDM8-
-
-
-
3Gain-
KEL-
-
-
-
1Loss-
KERA-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0408p.G629E
Missense
SNP
0.465
2--
KIAA0930-
-
-
-
3Gain-
KIAA1024-
-
-
-
3Gain-
KIAA1107p.Q969*
Nonsense
SNP
0.420
NDND-
KIAA1147-
-
-
-
1Loss-
KIAA1191-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1324L-
-
-
-
1Loss-
KIAA1549-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF1Ap.R1259L
Missense
SNP
1.000
1Loss-
KIF23-
-
-
-
4Gain-
KIF25-
-
-
-
1Loss-
KIF2B-
-
-
-
3Gain-
KIF5A-
-
-
-
3Gain-
KIF7p.E1023K
Missense
SNP
0.684
2--
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KITLG-
-
-
-
3Gain-
KLB-
-
-
-
1Loss-
KLC3-
-
-
-
3Gain-
KLF12-
-
-
-
1Loss-
KLF14-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC10-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL23-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL41-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL9-
-
-
-
3Gain-
KLRG2-
-
-
-
1Loss-
KMT2C-
-
-
-
1Loss-
KMT2Dp.S3713*
p.Q3471H
Nonsense
Missense
SNP
SNP
0.469
0.438
2--
KMT2Ep.Q1764E
Missense
SNP
1.000
1Loss-
KNDC1-
-
-
-
1Loss-
KNOP1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA7-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KPTN-
-
-
-
3Gain-
KRBA1-
-
-
-
1Loss-
KRIT1-
-
-
-
1Loss-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6Ap.D411N
Missense
SNP
0.305
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84p.E264Q
Missense
SNP
0.273
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5-
-
-
-
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KTI12-
-
-
-
1Loss-
KY-
-
-
-
3Gain-
L1TD1-
-
-
-
1Loss-
L34079.1-
-
-
-
3Gain-
L3MBTL2p.S391L
Missense
SNP
0.457
2--
LACRT-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LAMB1-
-
-
-
1Loss-
LAMB4-
-
-
-
1Loss-
LAMTOR4-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LAP3-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4-
-
-
-
3Gain-
LARP4B-
-
-
-
1Loss-
LARP6-
-
-
-
4Gain-
LATS1-
-
-
-
1Loss-
LCA5L-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT1-
-
-
-
3Gain-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCTL-
-
-
-
3Gain-
LDB2-
-
-
-
1Loss-
LDHAL6B-
-
-
-
3Gain-
LDLRAD1-
-
-
-
1Loss-
LEMD3-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LEP-
-
-
-
1Loss-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LETMD1-
-
-
-
3Gain-
LEXM-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGR5-
-
-
-
3Gain-
LHFPL3-
-
-
-
1Loss-
LHFPL4-
-
-
-
3Gain-
LHPP-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIG1-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LIMA1-
-
-
-
3Gain-
LIMCH1-
-
-
-
1Loss-
LIN7A-
-
-
-
3Gain-
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPE-
-
-
-
1Loss-
LITAF-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LLCFC1-
-
-
-
1Loss-
LLPH-
-
-
-
3Gain-
LMAN1L-
-
-
-
3Gain-
LMAN2-
-
-
-
3Gain-
LMBR1-
-
-
-
1Loss-
LMCD1-
-
-
-
3Gain-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMTK2-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LOXL1-
-
-
-
4Gain-
LPA-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRCH4-
-
-
-
1Loss-
LRCOL1-
-
-
-
3Gain-
LRGUK-
-
-
-
1Loss-
LRIG3-
-
-
-
3Gain-
LRMPp.S313F
Missense
SNP
0.442
2--
LRP1-
-
-
-
3Gain-
LRP11-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP8-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRRC10-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC17-
-
-
-
1Loss-
LRRC19-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC27-
-
-
-
1Loss-
LRRC3-
-
-
-
3Gain-
LRRC4-
-
-
-
1Loss-
LRRC40-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC49-
-
-
-
4Gain-
LRRC53-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC61-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC73-
-
-
-
3Gain-
LRRD1-
-
-
-
1Loss-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
3Gain-
LRRIQ1-
-
-
-
3Gain-
LRRIQ3-
-
-
-
1Loss-
LRRN1-
-
-
-
3Gain-
LRRN3p.Q667H
Missense
SNP
1.000
1Loss-
LRWD1-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
3Gain-
LTBP4-
-
-
-
1Loss-
LTC4S-
-
-
-
3Gain-
LTFp.I228M
Missense
SNP
1.000
2--
LUC7L2-
-
-
-
1Loss-
LUM-
-
-
-
3Gain-
LURAP1L-
-
-
-
3Gain-
LUZP6-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYN-
-
-
-
1Loss-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD3-
-
-
-
3Gain-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYRM1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LYZ-
-
-
-
3Gain-
LYZL1-
-
-
-
6Amp-
LYZL2-
-
-
-
3Gain-
MAATS1-
-
-
-
3Gain-
MAB21L2-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MAD2L1BP-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGED2p.Q193E
Missense
SNP
0.480
NDND-
MAGOH-
-
-
-
1Loss-
MAIP1-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MAML1-
-
-
-
3Gain-
MAML3-
-
-
-
1Loss-
MAN2A2-
-
-
-
3Gain-
MAN2B2-
-
-
-
1Loss-
MAN2C1-
-
-
-
3Gain-
MAP1Ap.E1062Q
Missense
SNP
0.465
2--
MAP2-
-
-
-
1Loss-
MAP2K1-
-
-
-
3Gain-
MAP2K5-
-
-
-
4Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K8-
-
-
-
3Gain-
MAP7D3p.R711S
Missense
SNP
0.249
NDND-
MAPK1p.R135K
Missense
SNP
0.455
2--
MAPK15-
-
-
-
3Gain-
MAPK6-
-
-
-
3Gain-
MAPK9-
-
-
-
3Gain-
MARCH4-
-
-
-
1Loss-
MARCH9-
-
-
-
3Gain-
MARF1-
-
-
-
3Gain-
MARK4-
-
-
-
3Gain-
MARS-
-
-
-
3Gain-
MARS2-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MASTL-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBD5p.E454Q
p.D1407N
Missense
Missense
SNP
SNP
0.508
0.514
2--
MBD6-
-
-
-
3Gain-
MBLAC1-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM3AP-
-
-
-
3Gain-
MCM7-
-
-
-
1Loss-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCTP2-
-
-
-
3Gain-
MDFIC-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MED12p.P1818S
Missense
SNP
0.366
NDND-
MED16-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MEGF11-
-
-
-
3Gain-
MEGF8-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MEIS3-
-
-
-
3Gain-
MEP1A-
-
-
-
3Gain-
MEP1Bp.R553K
Missense
SNP
0.492
2--
MEPCE-
-
-
-
1Loss-
MESD-
-
-
-
3Gain-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METTL1-
-
-
-
3Gain-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL25-
-
-
-
3Gain-
METTL2B-
-
-
-
1Loss-
METTL5-
-
-
-
1Loss-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL9-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MFSD5-
-
-
-
3Gain-
MFSD8-
-
-
-
1Loss-
MGAM-
-
-
-
1Loss-
MGAM2-
-
-
-
1Loss-
MGARP-
-
-
-
1Loss-
MGAT1-
-
-
-
3Gain-
MGAT4B-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGAT4D-
-
-
-
1Loss-
MGLL-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER2p.E48K
Missense
SNP
1.000
1Loss-
MIGA1-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MIP-
-
-
-
3Gain-
MISP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKL2p.Q629*
Nonsense
SNP
0.272
NDND-
MKLN1-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLANA-
-
-
-
3Gain-
MLH1-
-
-
-
3Gain-
MLKLp.E435*
Nonsense
SNP
0.497
2--
MLLT10-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP21-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP9p.D226H
Missense
SNP
0.453
2--
MNAT1p.I253M
Missense
SNP
0.481
2--
MNS1-
-
-
-
3Gain-
MNX1-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOB4-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MOGAT3-
-
-
-
1Loss-
MON2-
-
-
-
3Gain-
MORC1-
-
-
-
3Gain-
MORC3-
-
-
-
3Gain-
MORF4L1-
-
-
-
3Gain-
MOS-
-
-
-
1Loss-
MOSMO-
-
-
-
3Gain-
MOSPD3-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPI-
-
-
-
3Gain-
MPP4-
-
-
-
1Loss-
MPP5-
-
-
-
3Gain-
MPP7-
-
-
-
1Loss-
MPPED1-
-
-
-
3Gain-
MPV17L-
-
-
-
3Gain-
MRC1-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRNIP-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MRPL14-
-
-
-
3Gain-
MRPL15-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL37-
-
-
-
1Loss-
MRPL42-
-
-
-
3Gain-
MRPL44-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS18A-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS33-
-
-
-
1Loss-
MRTFB-
-
-
-
3Gain-
MRVI1-
-
-
-
1Loss-
MS4A1p.R222T
Missense
SNP
0.462
2--
MSANTD1-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSH5p.E49K
Missense
SNP
0.388
2--
MSL2-
-
-
-
3Gain-
MSRB2-
-
-
-
1Loss-
MSRB3-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MSX2-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTERF1-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTFMT-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTHFS-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR14-
-
-
-
3Gain-
MTPAP-
-
-
-
6Amp-
MTPN-
-
-
-
1Loss-
MTRF1L-
-
-
-
1Loss-
MUC12-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16p.S9245L
Missense
SNP
0.534
2--
MUC17-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC3A-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUCL1-
-
-
-
3Gain-
MUM1-
-
-
-
1Loss-
MUT-
-
-
-
3Gain-
MX1-
-
-
-
3Gain-
MX2-
-
-
-
3Gain-
MXD3-
-
-
-
3Gain-
MXD4-
-
-
-
1Loss-
MYCBP2-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH1p.P714T
Missense
SNP
0.556
2--
MYH11-
-
-
-
3Gain-
MYH13p.N937S
Missense
SNP
0.516
2--
MYH15-
-
-
-
3Gain-
MYL1-
-
-
-
1Loss-
MYL10-
-
-
-
1Loss-
MYL5-
-
-
-
1Loss-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYMX-
-
-
-
3Gain-
MYO16-
-
-
-
1LossCOG3--MYO16
MYO1A-
-
-
-
3Gain-
MYO1E-
-
-
-
3Gain-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
1Loss-
MYO5A-
-
-
-
3Gain-
MYO5Cp.K167N
Missense
SNP
0.296
3Gain-
MYO9A-
-
-
-
4Gain-
MYOD1p.E77K
Missense
SNP
1.000
1Loss-
MYPOP-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MYSM1-
-
-
-
1Loss-
MYZAP-
-
-
-
3Gain-
MZT1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP3-
-
-
-
3Gain-
NAA15-
-
-
-
1Loss-
NAA35-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NALCN-
-
-
-
1Loss-
NAMPT-
-
-
-
1Loss-
NANOS2-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L4-
-
-
-
1Loss-
NAPA-
-
-
-
3Gain-
NAPEPLD-
-
-
-
1Loss-
NAPRT-
-
-
-
3Gain-
NAT16-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NAV3-
-
-
-
3Gain-
NBEAL1-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
1Loss-
NBPF9-
-
-
-
3Gain-
NCAPG-
-
-
-
1Loss-
NCAPG2-
-
-
-
1Loss-
NCK1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5p.D244H
Missense
SNP
0.525
2--
NCL-
-
-
-
1Loss-
NCOA6p.Q892H
Missense
SNP
0.483
2--
NCR3LG1-
-
-
-
1Loss-
NDC1-
-
-
-
1Loss-
NDE1-
-
-
-
3Gain-
NDFIP2-
-
-
-
1Loss-
NDRG1p.E240Q
Missense
SNP
0.477
2--
NDUFA10-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA5-
-
-
-
1Loss-
NDUFAB1-
-
-
-
3Gain-
NDUFB2-
-
-
-
1Loss-
NDUFB4-
-
-
-
3Gain-
NDUFB6-
-
-
-
3Gain-
NDUFC1-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECTIN2-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEGR1-
-
-
-
1Loss-
NEIL1-
-
-
-
3Gain-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NEMP1-
-
-
-
3Gain-
NEO1-
-
-
-
4Gain-
NEPRO-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEUROD4-
-
-
-
3Gain-
NEXN-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFE4-
-
-
-
1Loss-
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
3Gain-
NFKBIE-
-
-
-
3Gain-
NFKBIZ-
-
-
-
3Gain-
NFXL1-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHEJ1-
-
-
-
1Loss-
NHP2-
-
-
-
3Gain-
NIF3L1-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN3-
-
-
-
1Loss-
NKD2p.E76K
Missense
SNP
0.469
2--
NKPD1-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NME7p.S70F
Missense
SNP
0.442
2--
NMT2-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NOBOX-
-
-
-
1Loss-
NOC4L-
-
-
-
3Gain-
NOCT-
-
-
-
1Loss-
NOL8-
-
-
-
3Gain-
NOM1-
-
-
-
1Loss-
NOMO1-
-
-
-
3Gain-
NOMO2-
-
-
-
3Gain-
NOMO3-
-
-
-
3Gain-
NOP14-
-
-
-
1Loss-
NOP16-
-
-
-
3Gain-
NOP53-
-
-
-
3Gain-
NOP58-
-
-
-
1Loss-
NOS3-
-
-
-
1Loss-
NOSTRIN-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
3Gain-
NOVA1-
-
-
-
3Gain-
NOVA2-
-
-
-
3Gain-
NOX3-
-
-
-
1Loss-
NOX5-
-
-
-
4Gain-
NPAS1-
-
-
-
3Gain-
NPBWR1-
-
-
-
1Loss-
NPFF-
-
-
-
3Gain-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPIPB2-
-
-
-
3Gain-
NPIPB3-
-
-
-
3Gain-
NPIPB4-
-
-
-
3Gain-
NPIPB5-
-
-
-
3Gain-
NPPC-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPTN-
-
-
-
4Gain-
NPTX2-
-
-
-
1Loss-
NR1D1p.S85F
Missense
SNP
0.554
2--
NR1I2-
-
-
-
3Gain-
NR2E3-
-
-
-
4Gain-
NR2F2-
-
-
-
3Gain-
NR3C2-
-
-
-
1Loss-
NR4A1-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
1Loss-
NRDC-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRG4-
-
-
-
3Gain-
NRIP3-
-
-
-
1Loss-
NRKp.H1408Y
Missense
SNP
0.593
NDND-
NRP2-
-
-
-
1Loss-
NSD1-
-
-
-
3Gain-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSG2-
-
-
-
3Gain-
NSMAF-
-
-
-
1Loss-
NSMCE1-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NSUN7-
-
-
-
1Loss-
NTAN1-
-
-
-
3Gain-
NTRK1p.A24G
Missense
SNP
0.519
2--
NTS-
-
-
-
3Gain-
NUB1-
-
-
-
1Loss-
NUBP1-
-
-
-
3Gain-
NUCB2-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP107-
-
-
-
3Gain-
NUP160p.Q507*
Nonsense
SNP
0.397
2--
NUP205-
-
-
-
1Loss-
NUP214p.D103N
Missense
SNP
0.564
2--
NUP43-
-
-
-
1Loss-
NUP50-
-
-
-
3Gain-
NUP98p.K1178R
Missense
SNP
1.000
1Loss-
NWD2-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NYAP1-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCNp.R2726W
Missense
SNP
0.476
2--
OBSL1-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCM2-
-
-
-
1Loss-
ODF2L-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3L1-
-
-
-
3Gain-
ODF3L2-
-
-
-
1Loss-
OGG1-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OMA1-
-
-
-
1Loss-
ONECUT1-
-
-
-
3Gain-
ONECUT3-
-
-
-
1Loss-
OPA3-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
1Loss-
OPN5-
-
-
-
3Gain-
OPRK1-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10A7-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR10Q1p.G154V
Missense
SNP
0.437
2--
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AE1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AP1-
-
-
-
3Gain-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
OR2V1-
-
-
-
3Gain-
OR2V2-
-
-
-
3Gain-
OR2Y1-
-
-
-
3Gain-
OR4F17-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5AC2-
-
-
-
3Gain-
OR5AU1-
-
-
-
1Loss-
OR5D14p.T20A
Missense
SNP
0.516
2--
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1p.M81I
Missense
SNP
0.338
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6B1-
-
-
-
1Loss-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR6V1-
-
-
-
1Loss-
OR7A17p.I78M
Missense
SNP
0.386
2--
OR7E47P-
-
-
-
3Gain-
OR9A2-
-
-
-
1Loss-
OR9A4-
-
-
-
1Loss-
OR9K2-
-
-
-
3Gain-
ORAI2-
-
-
-
1Loss-
ORC1-
-
-
-
1Loss-
ORC2-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL11-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
1Loss-
OSCAR-
-
-
-
1Loss-
OTOA-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2p.R210H
Missense
SNP
1.000
2--
OTOS-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXTR-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PACRG-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACSIN2-
-
-
-
3Gain-
PADI3p.S53C
Missense
SNP
0.416
2--
PAFAH1B3-
-
-
-
1Loss-
PALB2-
-
-
-
3Gain-
PALM-
-
-
-
1Loss-
PAN2-
-
-
-
3Gain-
PAOX-
-
-
-
1Loss-
PAPD5p.A107T
Missense
SNP
0.500
NDND-
PAPPA2p.V1713E
Missense
SNP
0.533
2--
PAQR5-
-
-
-
4Gain-
PARD3B-
-
-
-
1Loss-
PARN-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP12-
-
-
-
1Loss-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP16-
-
-
-
3Gain-
PARP6-
-
-
-
4Gain-
PARP9-
-
-
-
3Gain-
PARS2-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PASK-
-
-
-
1Loss-
PATJ-
-
-
-
1Loss-
PAWR-
-
-
-
3Gain-
PAX3-
-
-
-
1Loss-
PAX4-
-
-
-
1Loss-
PAXIP1-
-
-
-
1Loss-
PCBP2-
-
-
-
3Gain-
PCBP3-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHB1p.S259P
Missense
SNP
0.532
2--
PCDHGA5p.D40N
Missense
SNP
0.360
2--
PCF11p.E388*
Nonsense
SNP
0.465
2--
PCGF3-
-
-
-
1Loss-
PCLAF-
-
-
-
3Gain-
PCLO-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCNP-
-
-
-
3Gain-
PCNT-
-
-
-
3Gain-
PCOLCE-
-
-
-
1Loss-
PCP4-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCSK9-
-
-
-
1Loss-
PDAP1-
-
-
-
1Loss-
PDCD1-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
3Gain-
PDCD2-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDE10A-
-
-
-
1Loss-
PDE1B-
-
-
-
3Gain-
PDE3B-
-
-
-
1Loss-
PDE4B-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6B-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE9A-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDIA4-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDILT-
-
-
-
3Gain-
PDK4-
-
-
-
1Loss-
PDLIM7-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDXDC1-
-
-
-
3Gain-
PDXK-
-
-
-
3Gain-
PDZD2p.R928W
Missense
SNP
0.568
2--
PDZD9-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEAK1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PEG10-
-
-
-
1Loss-
PENK-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PEX1-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKL-
-
-
-
3Gain-
PFKP-
-
-
-
1Loss-
PFN3-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGK2-
-
-
-
3Gain-
PGLYRP1-
-
-
-
3Gain-
PGM1-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHETA1-
-
-
-
3Gain-
PHF10-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF2p.E862Q
Missense
SNP
0.494
2--
PHF21B-
-
-
-
3Gain-
PHLDA1-
-
-
-
3Gain-
PHLDA2-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLDB3-
-
-
-
3Gain-
PHOSPHO2-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PHYKPL-
-
-
-
3Gain-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS1-
-
-
-
4Gain-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGP-
-
-
-
3Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3CG-
-
-
-
1Loss-
PIK3R4-
-
-
-
3Gain-
PIKFYVEp.R1518K
Missense
SNP
1.000
1Loss-
PILRA-
-
-
-
1Loss-
PILRB-
-
-
-
1Loss-
PINLYP-
-
-
-
3Gain-
PIP-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP4K2C-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PITRM1-
-
-
-
1Loss-
PIWIL1-
-
-
-
3Gain-
PKDREJ-
-
-
-
3Gain-
PKMp.S402*
Nonsense
SNP
0.309
4Gain-
PKNOX1-
-
-
-
3Gain-
PKP3-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G10-
-
-
-
3Gain-
PLA2G4Ap.E734K
Missense
SNP
0.413
2--
PLA2G4C-
-
-
-
3Gain-
PLA2G7-
-
-
-
3Gain-
PLAA-
-
-
-
3Gain-
PLAG1-
-
-
-
1Loss-
PLAUR-
-
-
-
3Gain-
PLCB3p.E779G
Missense
SNP
0.411
2--
PLCD3p.E158Q
Missense
SNP
0.453
2--
PLCD4-
-
-
-
1Loss-
PLCL1-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLD3-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEK2-
-
-
-
3Gain-
PLEKHA7-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG7-
-
-
-
3Gain-
PLEKHH1-
-
-
-
3Gain-
PLEKHH2p.I479R
Missense
SNP
0.469
2--
PLEKHM3-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
3Gain-
PLIN1p.G149W
Missense
SNP
0.467
2--
PLIN2-
-
-
-
3Gain-
PLK1-
-
-
-
3Gain-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLOD3-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP3-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLRG1p.E67Q
Missense
SNP
1.000
2--
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNA4-
-
-
-
1Loss-
PLXNC1-
-
-
-
3Gain-
PLXND1-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMLp.P581S
Missense
SNP
0.756
4Gain-
PMPCB-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNMA8A-
-
-
-
3Gain-
PNMA8B-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNPLA8-
-
-
-
1Loss-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODN-
-
-
-
1Loss-
PODXL-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POFUT2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLH-
-
-
-
3Gain-
POLN-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1C-
-
-
-
3Gain-
POLR2E-
-
-
-
1Loss-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
3Gain-
POLR3Cp.E76K
Missense
SNP
0.309
3Gain-
POLR3E-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
PON1-
-
-
-
1Loss-
PON2-
-
-
-
1Loss-
PON3-
-
-
-
1Loss-
POP7p.G9S
Missense
SNP
1.000
1Loss-
POPDC2-
-
-
-
3Gain-
POT1-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU2F2-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU4F2-
-
-
-
1Loss-
POU6F1-
-
-
-
3Gain-
PPARA-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPCDC-
-
-
-
3Gain-
PPFIA2-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIB-
-
-
-
3Gain-
PPIG-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPM1H-
-
-
-
3Gain-
PPM1Lp.D219N
Missense
SNP
0.526
2--
PPM1N-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R13L-
-
-
-
3Gain-
PPP1R14C-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R35-
-
-
-
1Loss-
PPP1R37-
-
-
-
3Gain-
PPP1R3A-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP1R9A-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP2R5Bp.Q53*
Nonsense
SNP
0.409
2--
PPP4R2-
-
-
-
1Loss-
PPP5C-
-
-
-
3Gain-
PPP5D1-
-
-
-
3Gain-
PQLC2p.F162I
Missense
SNP
0.493
2--
PRAP1-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCCp.E406K
Missense
SNP
0.470
2--
PRDM15-
-
-
-
3Gain-
PRDM9-
-
-
-
1Loss-
PRELID1-
-
-
-
3Gain-
PREX2p.L267V
Missense
SNP
1.000
2--
PRIM1-
-
-
-
3Gain-
PRKAA2-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKAG2-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
1Loss-
PRKCB-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKD1p.I123M
p.I123F
Missense
Missense
SNP
SNP
0.498
0.488
2--
PRKD2-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRKRIP1-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRM1-
-
-
-
3Gain-
PRM2-
-
-
-
3Gain-
PRM3-
-
-
-
3Gain-
PRMT2-
-
-
-
3Gain-
PRMT9-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROP1-
-
-
-
3Gain-
PROS1-
-
-
-
3Gain-
PROSER1p.D919H
Missense
SNP
0.571
2--
PROSER2-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
1Loss-
PRR12p.P653T
Missense
SNP
0.534
2--
PRR13-
-
-
-
3Gain-
PRR18-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR7-
-
-
-
3Gain-
PRRT3-
-
-
-
3Gain-
PRRT4-
-
-
-
1Loss-
PRSS1-
-
-
-
1Loss-
PRSS2-
-
-
-
1Loss-
PRSS37-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRSS58-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRX-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSG1-
-
-
-
0Del-
PSG11-
-
-
-
0Del-
PSG2-
-
-
-
0Del-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
0Del-
PSG5-
-
-
-
0Del-
PSG6-
-
-
-
0Del-
PSG7-
-
-
-
0Del-
PSG8-
-
-
-
0Del-
PSG9-
-
-
-
0Del-
PSIP1-
-
-
-
3Gain-
PSMA1-
-
-
-
1Loss-
PSMA3p.E249K
Missense
SNP
0.341
2--
PSMA4-
-
-
-
3Gain-
PSMB1-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMC1p.K16N
Missense
SNP
0.474
2--
PSMC2-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMG1-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTCD1-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTCHD4-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGER3-
-
-
-
1Loss-
PTGES3-
-
-
-
3Gain-
PTGFR-
-
-
-
1Loss-
PTGIR-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTN-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN21p.L931F
Missense
SNP
0.490
2--
PTPN9-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRD-
-
-
-
3Gain-
PTPRE-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRN2-
-
-
-
1Loss-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRZ1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
3Gain-
PTTG2-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PUM3-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS7-
-
-
-
1Loss-
PVR-
-
-
-
3Gain-
PVRIG-
-
-
-
1Loss-
PWP2-
-
-
-
3Gain-
PWWP2B-
-
-
-
1Loss-
PXDNL-
-
-
-
1Loss-
PXMP2-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
QDPR-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QPCTL-
-
-
-
3Gain-
QTRT2-
-
-
-
3Gain-
R3HDM2p.G909E
Missense
SNP
0.301
3Gain-
R3HDM4-
-
-
-
1Loss-
RAB11A-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB19-
-
-
-
1Loss-
RAB21-
-
-
-
3Gain-
RAB24-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB28-
-
-
-
1Loss-
RAB2A-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB3B-
-
-
-
1Loss-
RAB3IP-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB5B-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABAC1-
-
-
-
1Loss-
RABGGTB-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RACK1-
-
-
-
3Gain-
RAD18-
-
-
-
3Gain-
RADILp.R595C
Missense
SNP
0.455
2--
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAMAC-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RAN-
-
-
-
3Gain-
RANBP6-
-
-
-
3Gain-
RAP1B-
-
-
-
3Gain-
RAP2A-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARG-
-
-
-
3Gain-
RARRES2-
-
-
-
1Loss-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASGEF1C-
-
-
-
3Gain-
RASGRF1-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF10-
-
-
-
1Loss-
RASSF3-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RASSF9-
-
-
-
3Gain-
RAVER1p.S510L
Missense
SNP
0.462
2--
RAVER2-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBBP6-
-
-
-
3Gain-
RBM17-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM28-
-
-
-
1Loss-
RBM33-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM48-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS2-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPMS2-
-
-
-
3Gain-
RCAN2-
-
-
-
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCCD1-
-
-
-
3Gain-
RCL1-
-
-
-
3Gain-
RCN2-
-
-
-
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
REC114-
-
-
-
4Gain-
RECQL4-
-
-
-
3Gain-
RECQL5p.S874L
Missense
SNP
0.560
2--
REELD1-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
3Gain-
RELL1-
-
-
-
1Loss-
RELN-
-
-
-
1Loss-
REPIN1-
-
-
-
1Loss-
REPS1p.S166L
Missense
SNP
0.587
2--
RESP18-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO5-
-
-
-
3Gain-
RFC1-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFX3-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS12-
-
-
-
1Loss-
RGS14-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS20-
-
-
-
1Loss-
RGS22p.D819N
Missense
SNP
1.000
2--
RHAG-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHEB-
-
-
-
1Loss-
RHO-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIN1p.G638C
Missense
SNP
0.478
2--
RINT1-
-
-
-
1Loss-
RIOX2-
-
-
-
3Gain-
RIPK4-
-
-
-
3Gain-
RIPPLY3-
-
-
-
3Gain-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMI2-
-
-
-
3Gain-
RMND1-
-
-
-
1Loss-
RMND5B-
-
-
-
3Gain-
RNASEH2B-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RNF111-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF126-
-
-
-
1Loss-
RNF130-
-
-
-
3Gain-
RNF133-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF150-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF32-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF41-
-
-
-
3Gain-
RNF44-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
RNPS1p.R31C
Missense
SNP
0.566
2--
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR1-
-
-
-
1Loss-
RORA-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
1Loss-
RP11-766F14.2p.P1392R
Missense
SNP
0.549
NDND-
RPE-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPL24-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL37A-
-
-
-
1Loss-
RPL4-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPL9-
-
-
-
1Loss-
RPLP1-
-
-
-
4Gain-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
3Gain-
RPP25-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS15A-
-
-
-
3Gain-
RPS17-
-
-
-
3Gain-
RPS19-
-
-
-
1Loss-
RPS20-
-
-
-
1Loss-
RPS26-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
3Gain-
RPS6KA2-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD3-
-
-
-
3Gain-
RRAGA-
-
-
-
3Gain-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRN3-
-
-
-
3Gain-
RRP1-
-
-
-
3Gain-
RRP1B-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RSL1D1-
-
-
-
3Gain-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
3Gain-
RSPH14p.H107Q
Missense
SNP
0.399
2--
RSPH3-
-
-
-
1Loss-
RSPH6A-
-
-
-
3Gain-
RSPH9-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTL6-
-
-
-
3Gain-
RTN2-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
3Gain-
RUFY4-
-
-
-
1Loss-
RUNDC3B-
-
-
-
1Loss-
RUNX2-
-
-
-
3Gain-
RUVBL1-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR1p.E4228D
Missense
SNP
0.590
2--
RYR2p.E3809Q
Missense
SNP
0.496
2--
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAE1-
-
-
-
3Gain-
SAG-
-
-
-
1Loss-
SAMD13-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD9-
-
-
-
1Loss-
SAMD9L-
-
-
-
1Loss-
SAMM50-
-
-
-
3Gain-
SAP25-
-
-
-
1Loss-
SARNP-
-
-
-
3Gain-
SASH1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAXO1-
-
-
-
3Gain-
SAXO2-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP2-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
3Gain-
SCAPp.S838L
Missense
SNP
1.000
2--
SCAPER-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
3Gain-
SCGB1C1-
-
-
-
1Loss-
SCGB3A1-
-
-
-
3Gain-
SCLT1-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCN1A-
-
-
-
1Loss-
SCN5Ap.D297N
Missense
SNP
0.475
2--
SCN7A-
-
-
-
1Loss-
SCN8A-
-
-
-
3Gain-
SCN9A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1B-
-
-
-
3Gain-
SCNN1G-
-
-
-
3Gain-
SCOC-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCUBE1-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SDCBP-
-
-
-
1Loss-
SDHAF3-
-
-
-
1Loss-
SDK1p.G1064A
Missense
SNP
0.545
2--
SDR16C5-
-
-
-
1Loss-
SDR42E2-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SEC13-
-
-
-
3Gain-
SEC22A-
-
-
-
3Gain-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEL1L3-
-
-
-
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1LossSELENOF--TTC39A
SELENOW-
-
-
-
3Gain-
SEM1-
-
-
-
1Loss-
SEMA3A-
-
-
-
1Loss-
SEMA3D-
-
-
-
1Loss-
SEMA3E-
-
-
-
1Loss-
SEMA4B-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SEMA7A-
-
-
-
3Gain-
SENP6p.S81C
Missense
SNP
0.471
2--
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
4Gain-
SEPHS1-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT2-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERPINE1-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SETD4-
-
-
-
3Gain-
SETD5-
-
-
-
3Gain-
SETD7-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
3Gain-
SF3B1-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFMBT2-
-
-
-
1Loss-
SFSWAPp.X897_splice
Splice_Site
SNP
0.360
3Gain-
SFT2D1-
-
-
-
1Loss-
SFXN1-
-
-
-
3Gain-
SGCE-
-
-
-
1Loss-
SGIP1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SH2B2-
-
-
-
1Loss-
SH2B3-
-
-
-
3Gain-
SH2D3Cp.V168E
Missense
SNP
0.528
2--
SH2D7-
-
-
-
3Gain-
SH3BGR-
-
-
-
3Gain-
SH3BP2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3D19p.S467C
Missense
SNP
1.000
1Loss-
SH3GL2-
-
-
-
3Gain-
SH3GL3-
-
-
-
3Gain-
SH3GLB1-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHH-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA9-
-
-
-
3Gain-
SHISAL1-
-
-
-
3Gain-
SHISAL2A-
-
-
-
1Loss-
SHKBP1-
-
-
-
1Loss-
SHMT2-
-
-
-
3Gain-
SHQ1-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIGIRR-
-
-
-
1Loss-
SIGLEC15p.G57D
Missense
SNP
0.550
2--
SIK1-
-
-
-
3Gain-
SIK1B-
-
-
-
3Gain-
SIM2-
-
-
-
3Gain-
SIMC1-
-
-
-
3Gain-
SIN3A-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIX5-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKOR1-
-
-
-
4Gain-
SLAIN1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC11A2-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC12A9-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A3p.F391L
Missense
SNP
0.443
2--
SLC13A4-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC16A14-
-
-
-
1Loss-
SLC16A7-
-
-
-
3Gain-
SLC19A1-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
3Gain-
SLC1A5-
-
-
-
3Gain-
SLC1A7-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A7-
-
-
-
3Gain-
SLC23A3-
-
-
-
1Loss-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC25A13-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A27-
-
-
-
3Gain-
SLC25A31-
-
-
-
1Loss-
SLC25A40-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A10-
-
-
-
3Gain-
SLC26A3-
-
-
-
1Loss-
SLC26A4-
-
-
-
1Loss-
SLC26A5-
-
-
-
1Loss-
SLC27A2-
-
-
-
3Gain-
SLC29A1-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC34A1-
-
-
-
3Gain-
SLC34A2-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35B2-
-
-
-
3Gain-
SLC35B4-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35E3-
-
-
-
3Gain-
SLC35F4p.F173L
Missense
SNP
0.468
2--
SLC35G2-
-
-
-
3Gain-
SLC37A1-
-
-
-
3Gain-
SLC37A3-
-
-
-
1Loss-
SLC39A12-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC41A3-
-
-
-
3Gain-
SLC44A5-
-
-
-
1Loss-
SLC45A4-
-
-
-
3Gain-
SLC49A3-
-
-
-
1Loss-
SLC4A2-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A8-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC5A11-
-
-
-
3Gain-
SLC5A9p.Q660*
Nonsense
SNP
0.585
2--
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A3p.S351C
Missense
SNP
0.430
2--
SLC6A4p.W541*
p.A468G
Nonsense
Missense
SNP
SNP
0.539
0.441
2--
SLC8A2-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLCO3A1-
-
-
-
3Gain-
SLF1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK2p.P610S
Missense
SNP
0.300
NDND-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLTM-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMAD3-
-
-
-
4Gain-
SMAD6-
-
-
-
3Gain-
SMAGP-
-
-
-
3Gain-
SMARCA2-
-
-
-
3Gain-
SMARCA5-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCC2-
-
-
-
3Gain-
SMARCD3-
-
-
-
1Loss-
SMC1B-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMG1-
-
-
-
3Gain-
SMG5p.F575L
Missense
SNP
0.491
2--
SMG9-
-
-
-
3Gain-
SMIM14-
-
-
-
1Loss-
SMIM20p.X62_splice
Splice_Site
SNP
1.000
1Loss-
SMIM27-
-
-
-
3Gain-
SMIM30-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SMURF1-
-
-
-
1Loss-
SNAPC3-
-
-
-
3Gain-
SNAPC5-
-
-
-
3Gain-
SNCB-
-
-
-
3Gain-
SND1-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNN-
-
-
-
3Gain-
SNORC-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPD2-
-
-
-
3Gain-
SNUPN-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX20p.A150S
Missense
SNP
0.498
2--
SNX22-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
3Gain-
SNX33-
-
-
-
3Gain-
SNX4-
-
-
-
3Gain-
SNX9-
-
-
-
1Loss-
SOAT2-
-
-
-
3Gain-
SOCS1-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOCS5p.R263E
Missense
DNP
0.431
2--
SOD2-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SORBS1p.Q1237*
Nonsense
SNP
0.500
2--
SORCS2-
-
-
-
1Loss-
SOX14-
-
-
-
3Gain-
SOX17-
-
-
-
1Loss-
SOX18p.E238G
Missense
SNP
0.667
2--
SOX21-
-
-
-
1Loss-
SOX5p.E133*
Nonsense
SNP
0.445
2--
SOX6-
-
-
-
1Loss-
SOX9p.R264T
Missense
SNP
0.502
2--
SP1-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP5-
-
-
-
1Loss-
SP7-
-
-
-
3Gain-
SPAG16-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPAM1-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA6L-
-
-
-
3Gain-
SPATA8-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPATC1L-
-
-
-
3Gain-
SPATS1-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPC25-
-
-
-
1Loss-
SPDYE3-
-
-
-
1Loss-
SPEG-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPESP1-
-
-
-
4Gain-
SPG21-
-
-
-
3Gain-
SPHKAP-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPON1-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRR4-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD3p.W111*
Nonsense
SNP
0.307
3Gain-
SPRYD4-
-
-
-
3Gain-
SPRYD7-
-
-
-
1Loss-
SPTBN4-
-
-
-
1Loss-
SQSTM1-
-
-
-
3Gain-
SRBD1p.S957*
Nonsense
SNP
0.392
2--
SRGAP1-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP3-
-
-
-
3Gain-
SRI-
-
-
-
1Loss-
SRPK2-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRRM1p.D822H
Missense
SNP
0.517
2--
SRRM5-
-
-
-
3Gain-
SRRT-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF2p.E35Q
Missense
SNP
1.000
2--
SSB-
-
-
-
1Loss-
SSBP1-
-
-
-
1Loss-
SSBP3-
-
-
-
1Loss-
SSC4D-
-
-
-
5Amp-
SSFA2p.P836A
Missense
SNP
0.510
NDND-
SSMEM1-
-
-
-
1Loss-
SSPO-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSU72P8-
-
-
-
1Loss-
SSUH2-
-
-
-
3Gain-
SSX2IP-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL6-
-
-
-
3Gain-
ST5-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7-
-
-
-
1Loss-
ST8SIA2-
-
-
-
3Gain-
ST8SIA6-
-
-
-
1Loss-
STAC3-
-
-
-
3Gain-
STAG1-
-
-
-
3Gain-
STAG3-
-
-
-
1Loss-
STAM-
-
-
-
1Loss-
STARD5-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STEAP1-
-
-
-
1Loss-
STEAP2-
-
-
-
1Loss-
STEAP4-
-
-
-
1Loss-
STILp.E365Q
Missense
SNP
0.719
2--
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STK39-
-
-
-
1Loss-
STMP1-
-
-
-
1Loss-
STOML1-
-
-
-
4Gain-
STRA6p.V316I
Missense
SNP
0.682
4Gain-
STRA8-
-
-
-
1Loss-
STRADB-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STRN4-
-
-
-
3Gain-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STXBP4-
-
-
-
3Gain-
STXBP5-
-
-
-
1Loss-
STXBP5L-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULT2A1-
-
-
-
3Gain-
SULT4A1-
-
-
-
3Gain-
SUMF1-
-
-
-
3Gain-
SUMO1-
-
-
-
1Loss-
SUMO3-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT3H-
-
-
-
3Gain-
SUV39H2-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SVIL-
-
-
-
6Amp-
SVOPL-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SYCE1-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYMPK-
-
-
-
3Gain-
SYN3p.S311C
Missense
SNP
0.401
2--
SYNE1p.L960R
Missense
SNP
1.000
1Loss-
SYNJ2-
-
-
-
1Loss-
SYPL1-
-
-
-
1Loss-
SYT1-
-
-
-
3Gain-
SYT17-
-
-
-
3Gain-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TAC1-
-
-
-
1Loss-
TAC3-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF1L-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAF6-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
3Gain-
TAPT1-
-
-
-
1Loss-
TARBP2-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R16-
-
-
-
1Loss-
TAS2R3-
-
-
-
1Loss-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
1Loss-
TAS2R4-
-
-
-
1Loss-
TAS2R40-
-
-
-
1Loss-
TAS2R41-
-
-
-
1Loss-
TAS2R5-
-
-
-
1Loss-
TAS2R60-
-
-
-
1Loss-
TATDN2-
-
-
-
3Gain-
TBC1D1-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D15-
-
-
-
3Gain-
TBC1D19-
-
-
-
1Loss-
TBC1D21-
-
-
-
4Gain-
TBC1D22A-
-
-
-
3Gain-
TBC1D23-
-
-
-
3Gain-
TBC1D2B-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D4-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBC1D9B-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBL1Xp.E199K
Missense
SNP
0.390
NDND-
TBP-
-
-
-
1Loss-
TBXA2Rp.M112I
Missense
SNP
0.508
2--
TBXAS1-
-
-
-
1Loss-
TBXT-
-
-
-
1Loss-
TCAF1-
-
-
-
1Loss-
TCAF2-
-
-
-
1Loss-
TCEA1-
-
-
-
1Loss-
TCEANC2-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
3Gain-
TCF3-
-
-
-
1Loss-
TCF7L2p.V470I
Missense
SNP
0.416
2--
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCOF1p.K892N
Missense
SNP
0.518
2--
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCTE1-
-
-
-
3Gain-
TCTE3-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TDP2p.P75H
Missense
SNP
0.582
2--
TDRD3-
-
-
-
1Loss-
TDRD5p.D369N
Missense
SNP
0.468
2--
TDRD6-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECPR1-
-
-
-
1Loss-
TEK-
-
-
-
3Gain-
TEKT5-
-
-
-
3Gain-
TES-
-
-
-
1Loss-
TESPA1-
-
-
-
3Gain-
TEX101-
-
-
-
0Del-
TEX30-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX47-
-
-
-
1Loss-
TEX9-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAP2D-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFCP2-
-
-
-
3Gain-
TFEC-
-
-
-
1Loss-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TFPI2-
-
-
-
1Loss-
TFPT-
-
-
-
1Loss-
TFR2-
-
-
-
1Loss-
TGDS-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGS1-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP10-
-
-
-
4Gain-
THAP2-
-
-
-
3Gain-
THAP4-
-
-
-
1Loss-
THAP5-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THOC3-
-
-
-
3Gain-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
4Gain-
THUMPD1-
-
-
-
3Gain-
THUMPD3-
-
-
-
3Gain-
TIAM2-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGIT-
-
-
-
3Gain-
TIMELESS-
-
-
-
3Gain-
TIMM10B-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TJAP1-
-
-
-
3Gain-
TJP2-
-
-
-
1Loss-
TLE3p.S382F
Missense
SNP
0.332
4Gain-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM4SF20-
-
-
-
1Loss-
TM6SF1-
-
-
-
3Gain-
TM9SF2-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMBIM4-
-
-
-
3Gain-
TMC3-
-
-
-
3Gain-
TMC5-
-
-
-
3Gain-
TMC7-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED9-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM130-
-
-
-
1Loss-
TMEM132D-
-
-
-
3Gain-
TMEM139-
-
-
-
1Loss-
TMEM140-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM151B-
-
-
-
3Gain-
TMEM156-
-
-
-
1Loss-
TMEM159-
-
-
-
3Gain-
TMEM160-
-
-
-
3Gain-
TMEM168-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM176A-
-
-
-
1Loss-
TMEM176B-
-
-
-
1Loss-
TMEM178B-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM184C-
-
-
-
1Loss-
TMEM19-
-
-
-
3Gain-
TMEM198-
-
-
-
1Loss-
TMEM202-
-
-
-
4Gain-
TMEM209-
-
-
-
1Loss-
TMEM213-
-
-
-
1Loss-
TMEM215-
-
-
-
3Gain-
TMEM225B-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM229B-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM243-
-
-
-
1Loss-
TMEM249-
-
-
-
3Gain-
TMEM253-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM266-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM41B-
-
-
-
1Loss-
TMEM45A-
-
-
-
3Gain-
TMEM59-
-
-
-
1Loss-
TMEM61-
-
-
-
1Loss-
TMEM63B-
-
-
-
3Gain-
TMEM68-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM91-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIGD1p.N58H
Missense
SNP
0.495
2--
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS7-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4-
-
-
-
1Loss-
TMUB1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF17-
-
-
-
3Gain-
TNFRSF21-
-
-
-
3Gain-
TNFSF13B-
-
-
-
1Loss-
TNIP2p.L304V
Missense
SNP
1.000
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNP2-
-
-
-
3Gain-
TNPO3-
-
-
-
1Loss-
TNRC6A-
-
-
-
3Gain-
TNS1-
-
-
-
1Loss-
TNS2-
-
-
-
3Gain-
TNS4p.E461K
Missense
SNP
1.000
2--
TOLLIP-
-
-
-
1Loss-
TOM1L1-
-
-
-
3Gain-
TOMM40-
-
-
-
3Gain-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
3Gain-
TOX-
-
-
-
1Loss-
TPD52L3-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
3Gain-
TPK1-
-
-
-
1Loss-
TPM1-
-
-
-
3Gain-
TPOp.G85A
Missense
SNP
0.391
2--
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
3Gain-
TPRX1-
-
-
-
3Gain-
TPST2p.D203H
Missense
SNP
0.498
2--
TRAF3IP1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAPPC10-
-
-
-
3Gain-
TRAPPC6A-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TRAV30p.L101I
Missense
SNP
0.518
NDND-
TRBV20-1p.E101K
Missense
SNP
1.000
NDND-
TRDMT1-
-
-
-
1Loss-
TRERF1p.Q1140H
Missense
SNP
0.608
2--
TRH-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM24-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM35p.R195C
Missense
SNP
0.520
2--
TRIM36p.I268M
Missense
SNP
0.522
2--
TRIM4-
-
-
-
1Loss-
TRIM41-
-
-
-
3Gain-
TRIM5-
-
-
-
1Loss-
TRIM52-
-
-
-
3Gain-
TRIM56-
-
-
-
1Loss-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM7-
-
-
-
3Gain-
TRIP12-
-
-
-
1Loss-
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMU-
-
-
-
3Gain-
TRNT1-
-
-
-
3Gain-
TRPM2-
-
-
-
3Gain-
TRPM3p.R498K
Missense
SNP
0.509
2--
TRPM5-
-
-
-
1Loss-
TRPM7-
-
-
-
3Gain-
TRPM8-
-
-
-
1Loss-
TRPV5-
-
-
-
1Loss-
TRPV6-
-
-
-
1Loss-
TRRAP-
-
-
-
1Loss-
TSC22D4-
-
-
-
1Loss-
TSFM-
-
-
-
3Gain-
TSGA13-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN12-
-
-
-
1Loss-
TSPAN17-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN3-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN8-
-
-
-
3Gain-
TSPEAR-
-
-
-
3Gain-
TSPO-
-
-
-
3Gain-
TSSC4-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTBK1-
-
-
-
3Gain-
TTC21B-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC26-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC3-
-
-
-
3Gain-
TTC38-
-
-
-
3Gain-
TTC39A-
-
-
-
2-SELENOF--TTC39A
TTC39B-
-
-
-
3Gain-
TTC4-
-
-
-
1Loss-
TTLL1-
-
-
-
3Gain-
TTLL12-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL2-
-
-
-
1Loss-
TTLL3-
-
-
-
3Gain-
TTLL4-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTNp.R8216K
Missense
SNP
0.461
2--
TTPA-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
3Gain-
TUT4-
-
-
-
1Loss-
TVP23A-
-
-
-
3Gain-
TWIST2-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXNDC11-
-
-
-
3Gain-
TXNDC12-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYRP1-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2AF1-
-
-
-
3Gain-
U2AF1L5-
-
-
-
3Gain-
U2SURPp.S14*
Nonsense
SNP
0.472
2--
UACAp.Q176E
Missense
SNP
0.221
4Gain-
UBA3p.D119H
Missense
SNP
1.000
1Loss-
UBA5-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBAP1L-
-
-
-
3Gain-
UBASH3A-
-
-
-
3Gain-
UBE2Cp.E21K
Missense
SNP
0.509
2--
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2H-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2N-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2U-
-
-
-
1Loss-
UBE3C-
-
-
-
1Loss-
UBFD1-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBN2-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR2p.L884V
Missense
SNP
0.518
2--
UBR3-
-
-
-
1Loss-
UBXN2B-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UFSP1-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A3p.R202T
Missense
SNP
0.537
2--
UHRF2-
-
-
-
3Gain-
UIMC1-
-
-
-
3Gain-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK1-
-
-
-
3Gain-
ULK3-
-
-
-
3Gain-
UMOD-
-
-
-
3Gain-
UMODL1-
-
-
-
3Gain-
UMPS-
-
-
-
3Gain-
UNC13C-
-
-
-
3Gain-
UNC45A-
-
-
-
3Gain-
UNC5A-
-
-
-
3Gain-
UNC80-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UPF2-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK3A-
-
-
-
3Gain-
UPK3BL1-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC2-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH1C-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP15-
-
-
-
3Gain-
USP17L13-
-
-
-
1Loss-
USP24-
-
-
-
1Loss-
USP28p.E693Q
Missense
SNP
0.543
2--
USP3-
-
-
-
3Gain-
USP31-
-
-
-
3Gain-
USP32p.E267K
Missense
SNP
0.450
2--
USP33-
-
-
-
1Loss-
USP37-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP50-
-
-
-
3Gain-
USP6NL-
-
-
-
1Loss-
USP8-
-
-
-
3Gain-
UST-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VASP-
-
-
-
3Gain-
VAV3p.E150K
Missense
SNP
0.472
2--
VEGFA-
-
-
-
3Gain-
VENTX-
-
-
-
1Loss-
VGF-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VIL1-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VIPR2-
-
-
-
1Loss-
VLDLR-
-
-
-
3Gain-
VPS13C-
-
-
-
3Gain-
VPS26C-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS33B-
-
-
-
3Gain-
VPS35L-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS50-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VWA3A-
-
-
-
3Gain-
VWC2L-
-
-
-
1Loss-
WAC-
-
-
-
1Loss-
WASL-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR27-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR4-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR60-
-
-
-
1Loss-
WDR61-
-
-
-
3Gain-
WDR63-
-
-
-
1Loss-
WDR72-
-
-
-
3Gain-
WDR77p.S251*
Nonsense
SNP
0.529
2--
WDR78-
-
-
-
1Loss-
WDR86-
-
-
-
1Loss-
WDR91-
-
-
-
1Loss-
WDR97-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WEE2-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WLS-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7B-
-
-
-
3Gain-
WRB-
-
-
-
3Gain-
WRB-SH3BGR-
-
-
-
3Gain-
WTAP-
-
-
-
1Loss-
XIRP2-
-
-
-
1Loss-
XKR4-
-
-
-
1Loss-
XPO5-
-
-
-
3Gain-
XPOT-
-
-
-
3Gain-
XRCC1-
-
-
-
3Gain-
XRCC2-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XYLT1-
-
-
-
3Gain-
YBEY-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIPF1-
-
-
-
1Loss-
YIPF3-
-
-
-
3Gain-
YIPF7-
-
-
-
1Loss-
YME1L1-
-
-
-
1Loss-
YTHDF3-
-
-
-
1Loss-
ZAN-
-
-
-
1Loss-
ZAR1-
-
-
-
1Loss-
ZBED2-
-
-
-
3Gain-
ZBED4-
-
-
-
3Gain-
ZBED5-
-
-
-
1Loss-
ZBED6CL-
-
-
-
1Loss-
ZBTB11-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB20-
-
-
-
3Gain-
ZBTB21-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB49-
-
-
-
1Loss-
ZC3H10-
-
-
-
3Gain-
ZC3H12D-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H4-
-
-
-
3Gain-
ZC3H7A-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
1Loss-
ZC3HAV1L-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZCWPW1-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC23-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND2B-
-
-
-
1Loss-
ZFAND6-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFP2-
-
-
-
3Gain-
ZFP28p.E621K
Missense
SNP
0.994
2--
ZFP41-
-
-
-
3Gain-
ZFP62-
-
-
-
3Gain-
ZFP82p.E507K
Missense
SNP
0.592
2--
ZFYVE28-
-
-
-
1Loss-
ZFYVE9-
-
-
-
1Loss-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZKSCAN1-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZNF10-
-
-
-
3Gain-
ZNF112-
-
-
-
3Gain-
ZNF140-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF155-
-
-
-
3Gain-
ZNF180-
-
-
-
3Gain-
ZNF195-
-
-
-
1Loss-
ZNF212-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF221-
-
-
-
3Gain-
ZNF222-
-
-
-
3Gain-
ZNF223-
-
-
-
3Gain-
ZNF224-
-
-
-
3Gain-
ZNF225-
-
-
-
3Gain-
ZNF226-
-
-
-
3Gain-
ZNF227-
-
-
-
3Gain-
ZNF229-
-
-
-
3Gain-
ZNF230-
-
-
-
3Gain-
ZNF233-
-
-
-
3Gain-
ZNF234-
-
-
-
3Gain-
ZNF235-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF277-
-
-
-
1Loss-
ZNF280Ap.L239V
Missense
SNP
0.477
2--
ZNF280D-
-
-
-
3Gain-
ZNF282-
-
-
-
1Loss-
ZNF283-
-
-
-
3Gain-
ZNF284-
-
-
-
3Gain-
ZNF285-
-
-
-
3Gain-
ZNF296-
-
-
-
3Gain-
ZNF3-
-
-
-
1Loss-
ZNF318p.D1832H
Missense
SNP
0.310
3Gain-
ZNF330-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF346-
-
-
-
3Gain-
ZNF354A-
-
-
-
3Gain-
ZNF354B-
-
-
-
3Gain-
ZNF354C-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF394-
-
-
-
1Loss-
ZNF395p.N192S
Missense
SNP
0.465
2--
ZNF398-
-
-
-
1Loss-
ZNF404-
-
-
-
3Gain-
ZNF425-
-
-
-
1Loss-
ZNF428-
-
-
-
3Gain-
ZNF45-
-
-
-
3Gain-
ZNF454-
-
-
-
3Gain-
ZNF467-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF518B-
-
-
-
1Loss-
ZNF526-
-
-
-
1Loss-
ZNF541-
-
-
-
3Gain-
ZNF574-
-
-
-
1Loss-
ZNF575-
-
-
-
3Gain-
ZNF576-
-
-
-
3Gain-
ZNF579p.E190K
Missense
SNP
0.581
2--
ZNF595-
-
-
-
1Loss-
ZNF605-
-
-
-
3Gain-
ZNF609-
-
-
-
3Gain-
ZNF611p.D120H
Missense
SNP
0.480
2--
ZNF623-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF655-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF708p.A82G
Missense
DNP
0.412
2--
ZNF709p.Q58*
Nonsense
SNP
0.465
2--
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF740-
-
-
-
3Gain-
ZNF746-
-
-
-
1Loss-
ZNF765p.H145Y
Missense
SNP
0.493
2--
ZNF774-
-
-
-
3Gain-
ZNF775-
-
-
-
1Loss-
ZNF777-
-
-
-
1Loss-
ZNF783-
-
-
-
1Loss-
ZNF786-
-
-
-
1Loss-
ZNF789-
-
-
-
1Loss-
ZNF80-
-
-
-
3Gain-
ZNF800-
-
-
-
1Loss-
ZNF804B-
-
-
-
1Loss-
ZNF827-
-
-
-
1Loss-
ZNF84-
-
-
-
3Gain-
ZNF853p.G85A
Missense
SNP
0.511
2--
ZNF862-
-
-
-
1Loss-
ZNF879-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-
ZNHIT1-
-
-
-
1Loss-
ZNHIT6-
-
-
-
1Loss-
ZP2-
-
-
-
3Gain-
ZP3-
-
-
-
5Amp-
ZPLD1-
-
-
-
3Gain-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZSCAN21-
-
-
-
1Loss-
ZSCAN25-
-
-
-
1Loss-
ZWILCH-
-
-
-
3Gain-
ZXDCp.R379T
Missense
SNP
0.707
3Gain-
ZYG11A-
-
-
-
1Loss-
ZYG11B-
-
-
-
1Loss-
ZYX-
-
-
-
1Loss-