PDMR-328373~195-R~G48GJ3-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF.
Splice_Site
SNP
0.436
2--
AAGAB-
-
-
-
3Gain-
AAK1-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AANATp.X152_splice
Splice_Site
SNP
0.392
3Gain-
AATKp.E1294K
p.S1074L
Missense
Missense
SNP
SNP
0.149
0.416
3Gain-
ABCA10p.P948F
p.P238L
Missense
Missense
MNP
SNP
0.517
0.521
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13p.P675S
Missense
SNP
0.391
1Loss-
ABCA4p.S1709F
Missense
SNP
0.506
3Gain-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB11-
-
-
-
1Loss-
ABCB5-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCC11p.G202E
Missense
SNP
0.510
2--
ABCC4-
-
-
-
1Loss-
ABCC6p.G240E
Missense
SNP
0.478
2--
ABCC8-
-
-
-
1Loss-
ABCC9-
-
-
-
1Loss-
ABCD2p.R393Q
Missense
SNP
0.413
2--
ABCD3-
-
-
-
3Gain-
ABCF3p.L214W
Missense
SNP
0.426
2--
ABCG1-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16B-
-
-
-
3Gain-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8p.S286N
Missense
SNP
0.653
2--
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC003002.1-
-
-
-
3Gain-
AC003002.2-
-
-
-
3Gain-
AC003002.3-
-
-
-
3Gain-
AC003005.1-
-
-
-
3Gain-
AC003006.1-
-
-
-
3Gain-
AC004076.1-
-
-
-
3Gain-
AC004080.3-
-
-
-
1Loss-
AC004593.3-
-
-
-
1Loss-
AC004691.2-
-
-
-
1Loss-
AC004805.1-
-
-
-
3Gain-
AC005041.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
21Amp-
AC005702.1-
-
-
-
3Gain-
AC005837.2-
-
-
-
3Gain-
AC006030.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006978.2-
-
-
-
21Amp-
AC007040.2-
-
-
-
1Loss-
AC007240.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008073.3-
-
-
-
1Loss-
AC008403.1-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008687.4-
-
-
-
3Gain-
AC008687.8-
-
-
-
3Gain-
AC008695.1-
-
-
-
1Loss-
AC008750.8-
-
-
-
3Gain-
AC009336.2-
-
-
-
1Loss-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
1Loss-
AC010197.2-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC010327.1-
-
-
-
3Gain-
AC010487.3-
-
-
-
3Gain-
AC010522.1-
-
-
-
3Gain-
AC010619.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC011452.1-
-
-
-
3Gain-
AC011473.4-
-
-
-
3Gain-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
3Gain-
AC013489.1-
-
-
-
3Gain-
AC013717.1-
-
-
-
1Loss-
AC017083.3-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018755.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
1Loss-
AC020909.1-
-
-
-
3Gain-
AC020922.1-
-
-
-
3Gain-
AC022335.1-
-
-
-
1Loss-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC046185.1-
-
-
-
3Gain-
AC068547.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068831.7-
-
-
-
3Gain-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC079447.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087289.3-
-
-
-
3Gain-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
1Loss-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC092647.5-
-
-
-
20Amp-
AC093423.3-
-
-
-
3Gain-
AC093827.5-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC107871.1-
-
-
-
3Gain-
AC107959.5-
-
-
-
1Loss-
AC108488.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC112229.3-
-
-
-
3Gain-
AC113348.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC118553.2-
-
-
-
3Gain-
AC126283.2-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC131097.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC139491.7-
-
-
-
3Gain-
AC139530.2-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACBp.P850L
Missense
SNP
0.465
2--
ACADL-
-
-
-
1Loss-
ACAN-
-
-
-
3Gain-
ACBD5p.P95L
Missense
SNP
0.082
12Amp-
ACBD7-
-
-
-
1Loss-
ACCSLp.I171M
Missense
SNP
0.578
2--
ACE-
-
-
-
3Gain-
ACHEp.W148*
Nonsense
SNP
0.306
2--
ACIN1p.E413K
p.G28E
Missense
Missense
SNP
SNP
0.524
0.197
2--
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACLY-
-
-
-
1Loss-
ACMSD-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOX1-
-
-
-
3Gain-
ACOX2p.F122L
Missense
SNP
1.000
1Loss-
ACOXL-
-
-
-
3Gain-
ACP1-
-
-
-
1Loss-
ACP4-
-
-
-
3Gain-
ACSBG1-
-
-
-
3Gain-
ACSL3-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4p.S285F
Missense
SNP
1.000
2--
ACTB-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTG1-
-
-
-
3Gain-
ACTG2-
-
-
-
1Loss-
ACTN1p.S894F
Missense
SNP
0.717
2--
ACTN2p.D612N
Missense
SNP
0.340
2--
ACTN4p.S62F
Missense
SNP
0.497
2--
ACTR1B-
-
-
-
3Gain-
ACTR2-
-
-
-
1Loss-
ACTR3-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
3Gain-
ADAM17-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM21p.E402K
Missense
SNP
0.433
2--
ADAM23-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM30-
-
-
-
3Gain-
ADAM32p.G543R
Missense
SNP
0.574
2--
ADAM7-
-
-
-
1Loss-
ADAM8-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS10p.E173K
p.L12F
Missense
Missense
SNP
SNP
0.505
0.814
2--
ADAMTS12p.P1414S
Missense
SNP
0.318
2--
ADAMTS17-
-
-
-
3Gain-
ADAMTS18p.T1109I
Missense
SNP
0.608
2--
ADAMTS19-
-
-
-
1Loss-
ADAMTS2p.G483E
Missense
SNP
0.449
3Gain-
ADAMTS20p.E1005K
Missense
SNP
0.466
2--
ADAMTS4p.P56A
Missense
SNP
0.312
2--
ADAMTS5-
-
-
-
1Loss-
ADAMTS6p.G1116E
p.G713E
p.V647I
Missense
Missense
Missense
SNP
SNP
SNP
0.429
0.298
0.316
1Loss-
ADAMTS7-
-
-
-
3Gain-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
3Gain-
ADAP1-
-
-
-
1Loss-
ADARB1-
-
-
-
1Loss-
ADARB2p.S463L
Missense
SNP
0.686
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY1p.R774M
Missense
SNP
0.595
1Loss-
ADCY2p.M416I
Missense
SNP
0.641
2--
ADCY3-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCY8-
-
-
-
3Gain-
ADCY9-
-
-
-
1Loss-
ADCYAP1-
-
-
-
1Loss-
ADCYAP1R1p.F419L
Missense
SNP
0.597
1Loss-
ADD2-
-
-
-
1Loss-
ADGBp.S464F
Missense
SNP
0.238
2--
ADGRA1p.P195S
Missense
SNP
0.306
3Gain-
ADGRA2-
-
-
-
1Loss-
ADGRB1p.P350L
Missense
SNP
0.298
3Gain-
ADGRF3-
-
-
-
1Loss-
ADGRF5p.S1060F
Missense
SNP
0.516
2--
ADGRG3p.G165S
Missense
SNP
0.542
2--
ADGRG4p.L1992F
Missense
SNP
0.996
NDND-
ADGRL4p.N127I
Missense
SNP
0.238
2--
ADGRV1p.F654L
p.S3432F
p.G4979E
Missense
Missense
Missense
SNP
SNP
SNP
0.174
0.529
0.422
1Loss-
ADH1Ap.G45E
Missense
SNP
1.000
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADI1-
-
-
-
1Loss-
ADIPOQp.G217E
Missense
SNP
0.364
2--
ADM-
-
-
-
1Loss-
ADM5-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA3-
-
-
-
3Gain-
ADPGK-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
3Gain-
ADRA2Ap.G356E
Missense
SNP
0.691
2--
ADRA2B-
-
-
-
3Gain-
ADRB2-
-
-
-
1Loss-
ADSLp.S140C
Missense
SNP
0.418
2--
AEBP1-
-
-
-
1Loss-
AEBP2-
-
-
-
0Del-
AEN-
-
-
-
3Gain-
AFAP1L1-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF3p.R1102*
Nonsense
SNP
0.403
3Gain-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AFMp.R169K
Missense
SNP
0.462
2--
AFMID-
-
-
-
3Gain-
AFTPH-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGBL1-
-
-
-
3Gain-
AGBL4p.S395F
Missense
SNP
0.513
2--
AGBL5-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGL-
-
-
-
3Gain-
AGMO-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPAT1p.R253K
Missense
SNP
0.238
2--
AGPAT3-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGPS-
-
-
-
1Loss-
AGR2-
-
-
-
1Loss-
AGR3-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AHCYL1-
-
-
-
3Gain-
AHDC1p.E272K
Missense
SNP
0.548
2--
AHR-
-
-
-
1Loss-
AHSA1p.T330I
Missense
SNP
0.391
2--
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
1Loss-
AIREp.P497S
Missense
SNP
0.350
1Loss-
AJUBAp.G34S
Missense
SNP
0.444
2--
AK6-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP13-
-
-
-
3Gain-
AKAP3p.P506S
Missense
SNP
1.000
2--
AKAP6-
-
-
-
3Gain-
AKIP1-
-
-
-
1Loss-
AKNAp.P772S
Missense
SNP
0.824
2--
AKNAD1-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2p.S295I
Missense
SNP
0.333
1Loss-
AKT1S1-
-
-
-
3Gain-
AL035078.4-
-
-
-
1Loss-
AL049557.1-
-
-
-
3Gain-
AL078584.1p.R11K
Missense
SNP
0.221
NDND-
AL117339.5-
-
-
-
1Loss-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL157392.5-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL360181.3-
-
-
-
3Gain-
AL449266.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
3Gain-
AL845331.2-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALDH16A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH7A1-
-
-
-
1Loss-
ALDH9A1p.F448C
Missense
SNP
0.504
2--
ALG11-
-
-
-
1Loss-
ALG14-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALK-
-
-
-
1Loss-
ALKAL2-
-
-
-
1Loss-
ALLCp.G223E
Missense
SNP
0.712
1Loss-
ALMS1-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALOXE3p.E83K
Missense
SNP
0.468
2--
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2p.W1230*
Nonsense
MNP
0.670
1Loss-
ALPK3-
-
-
-
3Gain-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX3-
-
-
-
3Gain-
ALYREF-
-
-
-
3Gain-
AMER2p.P242L
Missense
SNP
0.177
2--
AMER3p.L40I
Missense
SNP
0.521
2--
AMIGO1-
-
-
-
3Gain-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
3Gain-
AMOTL1p.S39F
Missense
SNP
0.431
2--
AMOTL2p.S224F
Missense
SNP
0.295
2--
AMPD1p.F378I
Missense
SNP
0.339
3Gain-
AMPD2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
AMY1A-
-
-
-
3Gain-
AMY1B-
-
-
-
3Gain-
AMY1C-
-
-
-
3Gain-
AMY2A-
-
-
-
3Gain-
AMY2B-
-
-
-
3Gain-
AMZ1-
-
-
-
1Loss-
AMZ2-
-
-
-
3Gain-
ANAPC1-
-
-
-
3Gain-
ANAPC11-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANK2-
-
-
-
1Loss-
ANKAR-
-
-
-
1Loss-
ANKDD1A-
-
-
-
3Gain-
ANKDD1B-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKK1p.R736Q
Missense
SNP
0.391
2--
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD11p.G149R
Missense
SNP
0.565
2--
ANKRD12-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD23-
-
-
-
3Gain-
ANKRD26-
-
-
-
1Loss-
ANKRD28p.S1048F
Missense
SNP
1.000
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD30Bp.S277F
Missense
SNP
1.000
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33Bp.R427*
Nonsense
SNP
0.500
2--
ANKRD34B-
-
-
-
1Loss-
ANKRD34Cp.S395F
Missense
SNP
0.484
3Gain-
ANKRD35p.P525L
Missense
SNP
0.629
2--
ANKRD36-
-
-
-
3Gain-
ANKRD36B-
-
-
-
3Gain-
ANKRD36C-
-
-
-
3Gain-
ANKRD39-
-
-
-
3Gain-
ANKRD44-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD53-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD61-
-
-
-
1Loss-
ANKRD62-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
3Gain-
ANPEP-
-
-
-
3Gain-
ANTXR1-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANXA2-
-
-
-
3Gain-
ANXA4-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
AOAH-
-
-
-
1Loss-
AOC3p.W335*
Nonsense
SNP
0.532
2--
AOX1-
-
-
-
1Loss-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2A1-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP2M1p.R278C
Missense
SNP
0.479
2--
AP3B1-
-
-
-
1Loss-
AP3B2p.R444C
Missense
SNP
0.445
3Gain-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
3Gain-
AP4B1-
-
-
-
3Gain-
AP4E1-
-
-
-
1Loss-
AP5Z1-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB1IPp.E153K
Missense
SNP
0.329
1Loss-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APCDD1p.P180L
Missense
SNP
0.968
1Loss-
APEH-
-
-
-
1Loss-
APH1B-
-
-
-
3Gain-
APLF-
-
-
-
1Loss-
APOB-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOC2p.S95C
Missense
SNP
0.532
2--
APOH-
-
-
-
3Gain-
APOLD1-
-
-
-
1Loss-
APP-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
APPL1-
-
-
-
1Loss-
AQP1-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP9-
-
-
-
3Gain-
ARAP2p.Q1536L
Missense
SNP
0.338
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARFGEF3p.G297R
p.P542S
Missense
Missense
SNP
SNP
0.567
0.388
2--
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP23p.E805K
Missense
SNP
0.438
2--
ARHGAP24-
-
-
-
1Loss-
ARHGAP25-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP29-
-
-
-
3Gain-
ARHGAP32p.P2080S
Missense
SNP
0.429
2--
ARHGAP39p.S637F
p.P174L
Missense
Missense
SNP
SNP
0.314
0.301
3Gain-
ARHGAP40p.S151F
Missense
SNP
0.534
2--
ARHGAP5p.E481*
p.E489K
Nonsense
Missense
SNP
SNP
0.110
0.241
2--
ARHGDIA-
-
-
-
3Gain-
ARHGDIB-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF33-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1Ap.P1903S
Missense
SNP
0.709
2--
ARID3B-
-
-
-
3Gain-
ARID4Bp.S1174F
Missense
SNP
0.561
2--
ARID5A-
-
-
-
3Gain-
ARIH1-
-
-
-
3Gain-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL10-
-
-
-
3Gain-
ARL11-
-
-
-
1Loss-
ARL14EP-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL16-
-
-
-
3Gain-
ARL4A-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL5A-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
3Gain-
ARMC7-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARNT2-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
3Gain-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSI-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASAP2-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB3-
-
-
-
1Loss-
ASB7-
-
-
-
3Gain-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASNSD1-
-
-
-
1Loss-
ASPDH-
-
-
-
3Gain-
ASPMp.I3211M
Missense
SNP
0.554
3Gain-
ASPRV1-
-
-
-
1Loss-
ASPSCR1-
-
-
-
3Gain-
ASTL-
-
-
-
3Gain-
ASXL1p.G66R
Missense
SNP
0.494
2--
ASXL2p.T939I
Missense
SNP
0.358
1Loss-
ASXL3p.S744F
Missense
SNP
0.638
1Loss-
ATAD2p.R847C
Missense
SNP
0.512
2--
ATAD2B-
-
-
-
1Loss-
ATAD3Cp.X248_splice
Splice_Site
SNP
0.727
2--
ATF2-
-
-
-
1Loss-
ATF5-
-
-
-
3Gain-
ATF7IP-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG4B-
-
-
-
1Loss-
ATG4Cp.R376*
Nonsense
SNP
0.336
2--
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATHL1p.G190E
Missense
SNP
0.976
NDND-
ATIC-
-
-
-
1Loss-
ATL2-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATOH8p.E321K
Missense
SNP
0.654
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
3Gain-
ATP10D-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP13A3p.R394C
Missense
SNP
0.358
2--
ATP1A1-
-
-
-
3Gain-
ATP2A2p.I752T
Missense
SNP
0.619
2--
ATP2B2-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5MC3-
-
-
-
1Loss-
ATP5PB-
-
-
-
3Gain-
ATP5PD-
-
-
-
3Gain-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
1Loss-
ATP6V0A2p.E116K
Missense
SNP
0.505
2--
ATP6V0E1-
-
-
-
3Gain-
ATP6V1B1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C2-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A1p.K150T
Missense
SNP
0.280
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2p.G25E
Missense
SNP
0.449
2--
ATP8B4-
-
-
-
1Loss-
ATP9Ap.Q434*
Nonsense
SNP
0.368
2--
ATP9B-
-
-
-
1Loss-
ATRAID-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L2-
-
-
-
3Gain-
AUP1-
-
-
-
1Loss-
AURKC-
-
-
-
3Gain-
AUTS2p.G867E
Missense
SNP
0.584
2--
AVL9-
-
-
-
1Loss-
AXIN2-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALT1-
-
-
-
1Loss-
B3GALT2-
-
-
-
3Gain-
B3GALT5-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT2-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B3GNTL1-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
B4GALT7-
-
-
-
3Gain-
BABAM2-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAHCC1-
-
-
-
3Gain-
BAHD1-
-
-
-
1Loss-
BAIAP2-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARHL2-
-
-
-
3Gain-
BAX-
-
-
-
3Gain-
BAZ2Ap.P1837S
Missense
SNP
0.597
2--
BAZ2B-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS10p.K84N
Missense
SNP
0.483
2--
BBS12p.S110F
Missense
SNP
1.000
1Loss-
BBS4-
-
-
-
3Gain-
BBS5-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
1Loss-
BCANp.P363S
Missense
SNP
0.577
2--
BCAR3-
-
-
-
3Gain-
BCAS2p.N98K
Missense
SNP
0.345
3Gain-
BCAS3-
-
-
-
3Gain-
BCAT2-
-
-
-
3Gain-
BCL11A-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
3Gain-
BCL2L10-
-
-
-
1Loss-
BCL2L11-
-
-
-
3Gain-
BCL2L12-
-
-
-
3Gain-
BCL2L14-
-
-
-
1Loss-
BCL2L15-
-
-
-
3Gain-
BCS1L-
-
-
-
1Loss-
BDH2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BDP1p.F1433L
Missense
SNP
0.394
1Loss-
BEND4-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BHLHE40-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIN3-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BIRC6p.P563S
Missense
SNP
0.224
1Loss-
BIRC8-
-
-
-
3Gain-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLMp.G950E
p.E1272K
Missense
Missense
SNP
SNP
0.541
0.492
3Gain-
BLNKp.P244S
Missense
SNP
0.418
2--
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP10-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5p.E54K
Missense
SNP
0.641
2--
BMP7p.W389*
Nonsense
SNP
0.586
2--
BMPER-
-
-
-
1Loss-
BMPR1B-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BMXp.S252T
Missense
SNP
1.000
NDND-
BNC1-
-
-
-
3Gain-
BNIP1-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
3Gain-
BNIP3L-
-
-
-
1Loss-
BOD1-
-
-
-
3Gain-
BOD1L1p.P1848S
Missense
SNP
0.690
2--
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA3-
-
-
-
1Loss-
BOLL-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS8-MEF2Bp.P301S
Missense
SNP
0.400
2--
BPIFCp.P154S
Missense
SNP
0.446
2--
BPTF-
-
-
-
3Gain-
BRAT1-
-
-
-
1Loss-
BRCA2-
-
-
-
1Loss-
BRD1p.R585K
Missense
SNP
0.559
2--
BRD7-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRDT-
-
-
-
3Gain-
BRF2-
-
-
-
1Loss-
BRINP2p.D349E
Missense
SNP
0.434
2--
BRINP3p.X143_splice
Splice_Site
SNP
0.636
3Gain-
BRIP1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRMS1Lp.R116C
Missense
SNP
0.434
2--
BRPF1-
-
-
-
1Loss-
BRPF3p.H676Y
Missense
SNP
0.570
2--
BRSK1-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BRWD3p.G1671R
Missense
SNP
0.988
NDND-
BSNp.S1328F
p.P2342L
Missense
Missense
SNP
SNP
0.986
1.000
1Loss-
BSPH1-
-
-
-
3Gain-
BTBD1-
-
-
-
3Gain-
BTBD10-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD8-
-
-
-
3Gain-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTLAp.E238D
Missense
SNP
0.471
2--
BTNL10.
Splice_Site
SNP
0.627
NDND-
BTNL3-
-
-
-
3Gain-
BTNL8-
-
-
-
3Gain-
BTNL9-
-
-
-
3Gain-
BUB1-
-
-
-
3Gain-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
BZW2-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf90p.P367L
Missense
SNP
0.538
2--
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C12orf42p.L15*
Nonsense
SNP
0.553
2--
C12orf56p.S175L
Missense
SNP
0.539
2--
C12orf60-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39p.P419L
Missense
SNP
0.436
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf59p.R178Q
Missense
SNP
0.548
NDND-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
3Gain-
C16orf46p.P202L
Missense
SNP
0.457
2--
C17orf53p.R507W
Missense
SNP
0.472
2--
C17orf58-
-
-
-
3Gain-
C17orf62p.S135F
Missense
SNP
0.363
NDND-
C17orf64-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf18-
-
-
-
3Gain-
C19orf48-
-
-
-
3Gain-
C19orf73-
-
-
-
3Gain-
C19orf81-
-
-
-
3Gain-
C19orf84-
-
-
-
3Gain-
C1D-
-
-
-
1Loss-
C1GALT1-
-
-
-
1Loss-
C1GALT1C1L-
-
-
-
1Loss-
C1orf105p.R69S
Missense
SNP
0.596
2--
C1orf146-
-
-
-
3Gain-
C1orf162-
-
-
-
3Gain-
C1orf167p.P678S
p.W923*
Missense
Nonsense
SNP
SNP
0.250
0.636
2--
C1orf168p.E401K
Missense
SNP
0.727
NDND-
C1orf185p.A2T
Missense
SNP
0.606
2--
C1orf194-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1QL2-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QTNF1-
-
-
-
3Gain-
C1QTNF2-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD2Lp.D45N
Missense
SNP
0.780
2--
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD5-
-
-
-
1Loss-
C2CD6-
-
-
-
1Loss-
C2orf15-
-
-
-
3Gain-
C2orf16-
-
-
-
1Loss-
C2orf40-
-
-
-
3Gain-
C2orf42p.P118S
Missense
SNP
0.508
1Loss-
C2orf49-
-
-
-
3Gain-
C2orf50-
-
-
-
1Loss-
C2orf66-
-
-
-
1Loss-
C2orf68-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf70-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf73-
-
-
-
1Loss-
C2orf74-
-
-
-
1Loss-
C2orf76-
-
-
-
3Gain-
C2orf78-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf81-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C2orf88-
-
-
-
1Loss-
C2orf91-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84p.K180E
Missense
SNP
1.000
1Loss-
C4Ap.L1070F
Missense
SNP
0.133
2--
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf42p.P99T
Missense
SNP
0.435
NDND-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
3Gain-
C5orf52-
-
-
-
3Gain-
C5orf58-
-
-
-
3Gain-
C5orf60-
-
-
-
3Gain-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C7orf25-
-
-
-
1Loss-
C7orf26-
-
-
-
1Loss-
C7orf31-
-
-
-
1Loss-
C7orf50-
-
-
-
1Loss-
C7orf57-
-
-
-
1Loss-
C8orf33-
-
-
-
3Gain-
C8orf34p.S250L
Missense
SNP
0.586
2--
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf82-
-
-
-
3Gain-
C9orf64p.P332L
Missense
SNP
1.000
2--
CA11-
-
-
-
3Gain-
CA12-
-
-
-
3Gain-
CA13p.S106F
Missense
SNP
0.432
2--
CA4-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABIN1p.S1030F
Missense
SNP
0.508
2--
CABP5-
-
-
-
3Gain-
CABS1p.E73K
Missense
SNP
0.422
2--
CACNA1Bp.V77I
Missense
SNP
0.853
2--
CACNA1D-
-
-
-
1Loss-
CACNA1Fp.G731E
Missense
SNP
0.986
NDND-
CACNA1Gp.E1863K
Missense
SNP
0.547
2--
CACNA1Ip.G1637K
Missense
MNP
0.349
2--
CACNA1Sp.G1347R
p.P1268L
Missense
Missense
SNP
SNP
0.562
0.373
2--
CACNA2D1p.Y1056C
p.E103K
Missense
Missense
SNP
SNP
0.371
0.455
2--
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB1p.R56C
Missense
SNP
0.471
2--
CACNB2-
-
-
-
1Loss-
CACNB4-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACNG6-
-
-
-
3Gain-
CACNG7-
-
-
-
3Gain-
CACNG8-
-
-
-
3Gain-
CACTINp.P200L
Missense
SNP
0.468
2--
CAD-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCRL-
-
-
-
1Loss-
CALM2-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
1Loss-
CALY-
-
-
-
3Gain-
CAMK1-
-
-
-
1Loss-
CAMK1Dp.W245*;p.D246N
Nonsense
MNP
0.449
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
1Loss-
CAMK2D-
-
-
-
1Loss-
CAMK4p.E211K
Missense
SNP
0.700
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAND2-
-
-
-
1Loss-
CANT1-
-
-
-
3Gain-
CANX-
-
-
-
3Gain-
CAPG-
-
-
-
3Gain-
CAPN10-
-
-
-
1Loss-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPN3-
-
-
-
1Loss-
CAPN5p.R72Q
Missense
SNP
0.412
2--
CAPN7-
-
-
-
1Loss-
CAPSLp.E152K
Missense
SNP
0.443
2--
CAPZA1-
-
-
-
3Gain-
CARD10p.Q173K
Missense
SNP
0.593
2--
CARD11p.R650W
Missense
SNP
0.130
1Loss-
CARD14-
-
-
-
3Gain-
CARD8-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARMIL2p.Q188*
Nonsense
SNP
0.458
2--
CARMIL3p.F191L
Missense
SNP
0.462
2--
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASKIN2-
-
-
-
3Gain-
CASP10-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASQ2-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN1-
-
-
-
1Loss-
CAVIN2-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CBLL1p.R283C
Missense
SNP
0.409
2--
CBLN2-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD2-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX3-
-
-
-
1Loss-
CBX4-
-
-
-
3Gain-
CBX8-
-
-
-
3Gain-
CBY3-
-
-
-
3Gain-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC106-
-
-
-
3Gain-
CCDC112-
-
-
-
1Loss-
CCDC114-
-
-
-
3Gain-
CCDC12-
-
-
-
1Loss-
CCDC121-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
1Loss-
CCDC129p.Q463*
Nonsense
SNP
0.500
NDND-
CCDC13-
-
-
-
1Loss-
CCDC137p.P240L
Missense
SNP
0.175
3Gain-
CCDC138-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC141-
-
-
-
1Loss-
CCDC142-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC150-
-
-
-
1Loss-
CCDC155-
-
-
-
3Gain-
CCDC158p.S998F
Missense
SNP
0.462
2--
CCDC159p.G103R
Missense
SNP
0.578
2--
CCDC166-
-
-
-
3Gain-
CCDC168p.P6008S
p.P5923S
p.M698K
Missense
Missense
Missense
SNP
SNP
SNP
1.000
0.241
1.000
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC173p.M407I
Missense
SNP
1.000
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC18-
-
-
-
3Gain-
CCDC180p.N853Y
Missense
SNP
1.000
2--
CCDC25-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33p.D408N
Missense
SNP
0.491
3Gain-
CCDC34-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC40-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC57-
-
-
-
3Gain-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC85Ap.E235K
Missense
SNP
0.402
1Loss-
CCDC88A-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC93-
-
-
-
3Gain-
CCDC9B-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCM2-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNA2-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNB2-
-
-
-
3Gain-
CCNDBP1-
-
-
-
1Loss-
CCNFp.Q216*
Nonsense
SNP
0.304
2--
CCNG1-
-
-
-
3Gain-
CCNH-
-
-
-
1Loss-
CCNIp.P285S
Missense
SNP
0.371
2--
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
3Gain-
CCNO-
-
-
-
1Loss-
CCNT2-
-
-
-
1Loss-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCPG1-
-
-
-
3Gain-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCT4-
-
-
-
1Loss-
CCT6A-
-
-
-
20Amp-
CCT7-
-
-
-
1Loss-
CCT8-
-
-
-
1Loss-
CCT8L2p.M417I
Missense
SNP
0.409
2--
CCZ1-
-
-
-
1Loss-
CCZ1B-
-
-
-
1Loss-
CD101-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD163L1p.Q158P
Missense
SNP
1.000
2--
CD180-
-
-
-
1Loss-
CD1Bp.P215L
Missense
SNP
0.327
2--
CD2-
-
-
-
3Gain-
CD207-
-
-
-
1Loss-
CD22p.R139M
p.P419S
Missense
Missense
SNP
SNP
0.418
0.516
2--
CD226-
-
-
-
1Loss-
CD276-
-
-
-
3Gain-
CD28p.L8H
Missense
SNP
1.000
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LGp.P216L
Missense
SNP
0.485
2--
CD302-
-
-
-
1Loss-
CD33-
-
-
-
3Gain-
CD37-
-
-
-
3Gain-
CD44p.I308V
p.L658M
Missense
Missense
SNP
SNP
0.450
0.520
2--
CD5p.K404Q
Missense
SNP
0.473
2--
CD53-
-
-
-
3Gain-
CD58-
-
-
-
3Gain-
CD7-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD8A-
-
-
-
1Loss-
CD8B-
-
-
-
1Loss-
CD8B2-
-
-
-
3Gain-
CD93p.D387N
Missense
SNP
0.479
2--
CDADC1-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC14A-
-
-
-
3Gain-
CDC14C-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC20Bp.G285E
Missense
SNP
0.640
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC42BPAp.P257L
Missense
SNP
0.320
2--
CDC42EP2p.P33L
Missense
SNP
0.452
2--
CDC42EP3-
-
-
-
1Loss-
CDC42EP4-
-
-
-
3Gain-
CDC42EP5-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC5Lp.G207R
Missense
SNP
0.400
2--
CDC7-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA7-
-
-
-
1Loss-
CDCA7L-
-
-
-
1Loss-
CDCP1p.S225F
Missense
SNP
1.000
1Loss-
CDH17p.S485F
Missense
SNP
0.594
2--
CDH18p.V729I
Missense
SNP
0.366
2--
CDH19p.G731R
Missense
SNP
0.293
1Loss-
CDH2p.G279R
Missense
SNP
0.405
2--
CDH20-
-
-
-
1Loss-
CDH22p.P28Q
Missense
SNP
0.554
2--
CDH23p.G369D
Missense
SNP
0.353
2--
CDH26p.G328S
Missense
SNP
0.451
2--
CDH6p.P266L
Missense
SNP
0.463
2--
CDH7-
-
-
-
1Loss-
CDH9p.L126F
Missense
SNP
0.519
2--
CDHR2-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK13p.P343Q
Missense
SNP
0.657
1Loss-
CDK15p.S377F
Missense
SNP
0.968
1Loss-
CDK18p.Y362H
Missense
SNP
0.452
2--
CDK3-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDK7-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDS1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2p.E218K
Missense
SNP
0.250
2--
CEACAM18-
-
-
-
3Gain-
CEACAM4p.E224K
Missense
SNP
0.489
2--
CEBPEp.P268S
Missense
SNP
0.469
2--
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CECR6p.I429F
Missense
SNP
0.401
NDND-
CELF2-
-
-
-
1Loss-
CELF3p.K104Q
Missense
SNP
0.542
2--
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
3Gain-
CELSR1p.P1952L
Missense
MNP
0.324
2--
CELSR2-
-
-
-
3Gain-
CELSR3-
-
-
-
1Loss-
CEMIPp.K1309*
Nonsense
SNP
0.463
3Gain-
CEND1-
-
-
-
1Loss-
CENPA-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPFp.P2901F
Missense
MNP
0.591
2--
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPO-
-
-
-
1Loss-
CENPTp.R439K
Missense
SNP
0.537
2--
CENPX-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP120-
-
-
-
1Loss-
CEP126p.S455L
p.P932L
Missense
Missense
SNP
SNP
0.522
0.379
2--
CEP131-
-
-
-
3Gain-
CEP152-
-
-
-
1Loss-
CEP19p.Y84*
Nonsense
SNP
0.462
2--
CEP192p.S1549F
Missense
SNP
1.000
1Loss-
CEP295NL-
-
-
-
3Gain-
CEP68-
-
-
-
1Loss-
CEP76-
-
-
-
1Loss-
CEP95-
-
-
-
3Gain-
CEPT1-
-
-
-
3Gain-
CERKL-
-
-
-
1Loss-
CERS3-
-
-
-
3Gain-
CERS6-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP161-
-
-
-
3Gain-
CFAP221-
-
-
-
3Gain-
CFAP298-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP36-
-
-
-
1Loss-
CFAP410-
-
-
-
1Loss-
CFAP43p.P354L
Missense
SNP
0.526
2--
CFAP46-
-
-
-
3Gain-
CFAP47p.P1737S
Missense
SNP
0.982
NDND-
CFAP53-
-
-
-
1Loss-
CFAP58p.G419E
Missense
SNP
0.410
2--
CFAP61p.S607F
Missense
SNP
0.348
2--
CFAP65-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2p.H246Y
Missense
SNP
0.522
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4p.P44L
Missense
SNP
0.587
3Gain-
CFHR5p.P90S
Missense
SNP
0.400
3Gain-
CFI-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CGB3-
-
-
-
3Gain-
CGB5-
-
-
-
3Gain-
CGB7-
-
-
-
3Gain-
CGB8-
-
-
-
3Gain-
CGGBP1-
-
-
-
1Loss-
CGNL1-
-
-
-
3Gain-
CGREF1-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAC2-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD2-
-
-
-
20Amp-
CHCHD4-
-
-
-
1Loss-
CHCHD5-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD2-
-
-
-
3Gain-
CHD4p.P412L
Missense
SNP
1.000
2--
CHD7p.P2677F
Missense
MNP
0.523
2--
CHDH-
-
-
-
1Loss-
CHGAp.G261D
Missense
SNP
0.504
2--
CHGBp.E151K
Missense
SNP
0.415
2--
CHI3L2-
-
-
-
3Gain-
CHIA-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP2A-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHMP3-
-
-
-
1Loss-
CHMP6-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHN1-
-
-
-
1Loss-
CHN2-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRNA1-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA3-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA7p.S318L
Missense
SNP
0.436
2--
CHRNA9-
-
-
-
1Loss-
CHRNB4-
-
-
-
3Gain-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST10-
-
-
-
3Gain-
CHST12-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHSY1-
-
-
-
3Gain-
CHSY3-
-
-
-
1Loss-
CIAO1-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CIB4-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CILP-
-
-
-
3Gain-
CILP2p.N308I
p.S644F
Missense
Missense
SNP
SNP
0.461
0.571
2--
CIR1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP2L-
-
-
-
3Gain-
CKAP4p.T245I
Missense
SNP
0.417
2--
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLASP1-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLCA2p.V921A
Missense
SNP
0.389
2--
CLCC1-
-
-
-
3Gain-
CLCNKBp.W96*
Nonsense
SNP
0.795
2--
CLDN10-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN25p.E42K
Missense
SNP
0.400
2--
CLDN8-
-
-
-
1Loss-
CLDND2-
-
-
-
3Gain-
CLEC11A-
-
-
-
3Gain-
CLEC12Bp.S93F
p.X137_splice
Missense
Splice_Site
SNP
SNP
0.983
0.576
2--
CLEC18Cp.W127*
Nonsense
SNP
0.222
2--
CLEC3B-
-
-
-
1Loss-
CLEC4F-
-
-
-
1Loss-
CLEC4Gp.L44F
Missense
SNP
0.488
2--
CLGNp.G517E
Missense
SNP
0.556
2--
CLHC1-
-
-
-
1Loss-
CLIC5p.E318K
p.G104S
Missense
Missense
SNP
SNP
0.358
0.667
2--
CLIC6-
-
-
-
1Loss-
CLINT1-
-
-
-
3Gain-
CLIP1p.G938R
Missense
SNP
0.457
2--
CLIP4-
-
-
-
1Loss-
CLK1-
-
-
-
1Loss-
CLK3-
-
-
-
3Gain-
CLK4-
-
-
-
3Gain-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
3Gain-
CLN8-
-
-
-
1Loss-
CLPX-
-
-
-
3Gain-
CLRN1p.D55N
Missense
SNP
0.388
2--
CLRN2p.S20F
Missense
SNP
0.786
2--
CLRN3-
-
-
-
3Gain-
CLSTN1p.H423Y
Missense
SNP
0.533
2--
CLTB-
-
-
-
3Gain-
CLTC-
-
-
-
2-CLTC--VMP1
CLU-
-
-
-
1Loss-
CLUHp.E607K
Missense
SNP
0.459
2--
CLUL1-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMIPp.A544V
Missense
SNP
0.458
2--
CMPK2-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5p.G740E
Missense
SNP
0.689
1Loss-
CNBD2p.R198K
Missense
SNP
0.706
2--
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA1p.D609N
Missense
SNP
0.648
1Loss-
CNGA3-
-
-
-
3Gain-
CNGA4-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN3-
-
-
-
3Gain-
CNNM1p.G437R
Missense
SNP
0.644
2--
CNNM3-
-
-
-
3Gain-
CNNM4-
-
-
-
3Gain-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
3Gain-
CNOT3-
-
-
-
3Gain-
CNOT6-
-
-
-
3Gain-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNP-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNRIP1-
-
-
-
1Loss-
CNTD1p.X97_splice
Splice_Site
SNP
0.491
2--
CNTN3p.S632F
Missense
SNP
1.000
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP2p.S1042F
Missense
SNP
0.445
2--
CNTNAP3C-
-
-
-
3Gain-
CNTNAP5p.E1281V
Missense
SNP
0.609
3Gain-
COA1-
-
-
-
1Loss-
COA5-
-
-
-
3Gain-
COBL-
-
-
-
1Loss-
COBLL1-
-
-
-
1Loss-
COCHp.P505T
Missense
SNP
0.446
2--
COG1p.R38W
Missense
SNP
0.403
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COL10A1p.K333R
Missense
SNP
0.314
2--
COL11A1p.G1237E
Missense
SNP
0.341
3Gain-
COL14A1p.G1518R
p.G1581E
Missense
Missense
SNP
SNP
0.469
0.569
2--
COL16A1p.P1595S
Missense
SNP
0.609
2--
COL18A1-
-
-
-
1Loss-
COL1A1p.P1140F
Missense
MNP
0.639
2--
COL1A2p.T339I
p.G457E
Missense
Missense
SNP
SNP
0.583
0.559
2--
COL21A1p.G701E
Missense
SNP
0.491
2--
COL22A1p.P1593S
Missense
SNP
0.267
3Gain-
COL23A1-
-
-
-
3Gain-
COL25A1-
-
-
-
1Loss-
COL28A1p.P625S
p.P330S
p.P169S
Missense
Missense
Missense
SNP
SNP
SNP
0.619
0.731
0.800
1Loss-
COL3A1p.G735E
Missense
SNP
0.977
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2p.G1058E
p.E1524K
p.R1651C
Missense
Missense
Missense
SNP
SNP
SNP
0.568
0.500
0.543
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A1p.P968F
Missense
MNP
1.000
2--
COL5A2p.P1177S
Missense
SNP
1.000
1Loss-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL6A3-
-
-
-
1Loss-
COL6A5p.E1974K
p.E2262K
Missense
Missense
SNP
SNP
0.492
0.414
2--
COL6A6p.A960T
Missense
SNP
0.457
2--
COL7A1-
-
-
-
1Loss-
COL8A1p.G501E
Missense
SNP
0.447
2--
COL9A3p.P339L
Missense
SNP
0.430
2--
COLEC11-
-
-
-
1Loss-
COLEC12-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD1p.E7K
Missense
SNP
0.214
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
3Gain-
COMMD5p.D139N
Missense
SNP
0.604
3Gain-
COMMD6-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPG1p.K432N
Missense
SNP
0.608
2--
COPS2-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COQ10B-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
CORINp.P128S
Missense
SNP
0.308
1Loss-
CORO2B-
-
-
-
3Gain-
COX19-
-
-
-
1Loss-
COX5A-
-
-
-
3Gain-
COX5B-
-
-
-
3Gain-
COX6B2-
-
-
-
3Gain-
COX7A2L-
-
-
-
1Loss-
COX7B2-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPEB1-
-
-
-
3Gain-
CPEB4-
-
-
-
3Gain-
CPLX2-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPLX4-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPS1-
-
-
-
1Loss-
CPSF1p.A729V
Missense
SNP
0.579
3Gain-
CPSF3-
-
-
-
1Loss-
CPSF4L-
-
-
-
3Gain-
CPSF6p.D580_R583del
p.P325S
In_Frame_Del
Missense
DEL
SNP
0.252
0.591
2--
CPT1Cp.R340Q
Missense
SNP
0.245
3Gain-
CPVL-
-
-
-
1Loss-
CR1p.P1515L
p.X1904_splice;p.R1904Q
Missense
Splice_Site
SNP
MNP
0.655
0.349
2--
CRABP1-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRB2p.S807F
Missense
SNP
0.988
2--
CRBN-
-
-
-
1Loss-
CREB1-
-
-
-
1Loss-
CREB3L1p.S107N
Missense
SNP
0.406
2--
CREB5-
-
-
-
1Loss-
CREBBP-
-
-
-
1Loss-
CREBL2-
-
-
-
1Loss-
CREBRF-
-
-
-
3Gain-
CREBZF-
-
-
-
1Loss-
CREG2-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CREM-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
21Amp-
CRIM1-
-
-
-
1Loss-
CRIPT-
-
-
-
1Loss-
CRNKL1p.X677_splice
Splice_Site
SNP
0.296
2--
CROCC2-
-
-
-
1Loss-
CRTAC1p.G455R
Missense
SNP
0.508
2--
CRTAP-
-
-
-
1Loss-
CRTC1p.P273L
Missense
SNP
0.355
2--
CRTC3-
-
-
-
3Gain-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSDE1-
-
-
-
3Gain-
CSF1-
-
-
-
3Gain-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSK-
-
-
-
3Gain-
CSMD1-
-
-
-
1Loss-
CSMD3p.D2621N
p.D2516A
p.F1798L
p.E610K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.463
0.458
0.418
0.528
2--
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1D-
-
-
-
3Gain-
CSNK1G1-
-
-
-
3Gain-
CSNK1G3-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSPG4p.G894S
Missense
SNP
0.464
3Gain-
CSPG5-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CSRNP3-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CSTB-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CT62-
-
-
-
3Gain-
CTAGE1p.R142K
Missense
SNP
0.299
2--
CTB-50L17.10p.S234F
Missense
SNP
0.500
NDND-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA2-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSH-
-
-
-
3Gain-
CTTNBP2NLp.P405L
Missense
SNP
0.342
3Gain-
CTU1-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUEDC1p.P59L
Missense
SNP
0.459
2--
CUL1p.L268R
Missense
SNP
0.338
2--
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUL9p.S235F
p.P1231L
Missense
Missense
SNP
MNP
0.500
0.459
2--
CUX2p.P523S
Missense
SNP
0.593
2--
CWC22-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCR1p.I125M
Missense
SNP
1.000
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561-
-
-
-
3Gain-
CYB561D1-
-
-
-
3Gain-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYBC1-
-
-
-
3Gain-
CYBRD1-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP11A1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP1B1-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2E1-
-
-
-
3Gain-
CYP2R1-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
1Loss-
CYP4B1p.D148N
Missense
SNP
0.516
2--
CYP4F2p.S399F
Missense
SNP
0.498
2--
CYP4F22p.E328K
Missense
SNP
0.473
2--
CYP7B1p.F12L
Missense
SNP
0.410
2--
CYP8B1-
-
-
-
1Loss-
CYS1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTH1-
-
-
-
3Gain-
CYTH2-
-
-
-
3Gain-
CYTH3-
-
-
-
1Loss-
CYTH4p.S20F
Missense
SNP
0.446
2--
CYTIP-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT2p.P550S
Missense
SNP
0.457
2--
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAPK2-
-
-
-
3Gain-
DAPK3p.I209F
Missense
SNP
0.644
2--
DAPL1-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAZAP1p.P121L
Missense
SNP
0.333
2--
DAZL-
-
-
-
1Loss-
DBI-
-
-
-
3Gain-
DBN1-
-
-
-
3Gain-
DBNL-
-
-
-
1Loss-
DBP-
-
-
-
3Gain-
DBT-
-
-
-
3Gain-
DBX1-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF11p.S149F
Missense
SNP
0.509
2--
DCAF12L2p.D392N
Missense
SNP
1.000
NDND-
DCAF17-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF6p.P246L
Missense
SNP
0.352
2--
DCAF7-
-
-
-
3Gain-
DCANP1p.S224F
Missense
SNP
0.320
1Loss-
DCBLD2-
-
-
-
2-DCBLD2--POLA1
DCCp.F32L
p.Q203*
Missense
Nonsense
SNP
SNP
0.615
0.674
1Loss-
DCDC1-
-
-
-
1Loss-
DCDC2p.E380K
p.M369I
Missense
Missense
SNP
SNP
0.312
0.291
2--
DCDC2C-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCHS2p.T2396K
p.N68S
Missense
Missense
SNP
SNP
0.594
0.594
2--
DCLK1-
-
-
-
1Loss-
DCLK2p.M471T
Missense
SNP
0.570
2--
DCLK3-
-
-
-
1Loss-
DCLRE1B-
-
-
-
3Gain-
DCLRE1C-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCT-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN4p.P59L
Missense
SNP
0.765
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D2-
-
-
-
1Loss-
DCXR-
-
-
-
3Gain-
DDB1p.S781F
p.Q432*
Missense
Nonsense
SNP
SNP
0.457
0.453
2--
DDC-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDX1-
-
-
-
1Loss-
DDX18-
-
-
-
3Gain-
DDX20-
-
-
-
3Gain-
DDX27p.H494Y
Missense
SNP
0.465
2--
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
3Gain-
DDX42-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX5-
-
-
-
3Gain-
DDX56p.P391S
Missense
SNP
0.610
1Loss-
DDX59-
-
-
-
3Gain-
DDX60p.R737W
Missense
SNP
0.535
2--
DEAF1-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND1B-
-
-
-
3Gain-
DENND2C-
-
-
-
3Gain-
DENND2D-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4Bp.P135A
Missense
SNP
0.531
2--
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC1Bp.P321L
Missense
SNP
0.360
1Loss-
DEPDC7-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DET1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKBp.G49E
Missense
SNP
0.412
1Loss-
DGKD-
-
-
-
1Loss-
DGKH-
-
-
-
1Loss-
DGUOK-
-
-
-
1Loss-
DHDH-
-
-
-
3Gain-
DHFR-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30p.G933S
Missense
SNP
0.971
1Loss-
DHX57-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIP2A-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRC1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3Lp.L420R
Missense
SNP
0.468
3Gain-
DIS3L2-
-
-
-
1Loss-
DISP2-
-
-
-
1Loss-
DISP3p.G997E
Missense
SNP
0.379
2--
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKK4p.T45K
Missense
SNP
0.554
2--
DKKL1-
-
-
-
3Gain-
DLC1p.P727L
Missense
SNP
0.960
1Loss-
DLEC1p.D1643N
Missense
SNP
1.000
1Loss-
DLEU7-
-
-
-
1Loss-
DLGAP1p.Q742E
Missense
SNP
1.000
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP4p.S145L
Missense
SNP
0.421
2--
DLL4-
-
-
-
1Loss-
DLX1-
-
-
-
1Loss-
DLX2-
-
-
-
1Loss-
DMBT1p.S2117N
Missense
SNP
0.596
2--
DMGDH-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMRTC2p.P107S
Missense
SNP
0.468
2--
DMTN-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF3-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH10p.D824N
Missense
SNP
0.483
2--
DNAH11p.R260K
p.C369G
Missense
Missense
SNP
SNP
0.294
0.697
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH14p.S86F
p.K373*
Missense
Nonsense
SNP
SNP
0.433
0.351
2--
DNAH17-
-
-
-
3Gain-
DNAH5p.R2392K
Missense
SNP
0.492
2--
DNAH6-
-
-
-
1Loss-
DNAH7p.M2982L
Missense
SNP
1.000
1Loss-
DNAH8p.W789*
Nonsense
SNP
0.421
2--
DNAH9p.L526*
Nonsense
SNP
0.471
2--
DNAI1p.M290I;p.E291K
Missense
MNP
1.000
2--
DNAI2-
-
-
-
3Gain-
DNAJA4-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJC1-
-
-
-
1Loss-
DNAJC10-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC28-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC5G-
-
-
-
1Loss-
DNAJC7-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNMT3Ap.P709L
Missense
SNP
0.667
1Loss-
DNMT3L-
-
-
-
1Loss-
DNPEP-
-
-
-
1Loss-
DNTTIP2-
-
-
-
3Gain-
DOCK1-
-
-
-
3Gain-
DOCK10-
-
-
-
1Loss-
DOCK2p.R512*
p.N1053H
Nonsense
Missense
SNP
SNP
0.433
0.219
3Gain-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK6p.E418K
Missense
SNP
0.737
2--
DOCK9p.Q1440_K1441del
In_Frame_Del
DEL
0.925
1Loss-
DOK1-
-
-
-
1Loss-
DOK2p.A353V
Missense
SNP
1.000
1Loss-
DOK3-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPH3p.P71S
Missense
SNP
0.958
1Loss-
DPH5-
-
-
-
3Gain-
DPP10-
-
-
-
3Gain-
DPP4-
-
-
-
1Loss-
DPP8-
-
-
-
3Gain-
DPRX-
-
-
-
3Gain-
DPY19L1-
-
-
-
1Loss-
DPY30-
-
-
-
1Loss-
DPYD-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DPYSL4p.G62D
Missense
SNP
0.421
3Gain-
DPYSL5-
-
-
-
1Loss-
DQX1p.R347*
Nonsense
SNP
0.233
1Loss-
DR1-
-
-
-
3Gain-
DRAM2-
-
-
-
3Gain-
DRC1-
-
-
-
1Loss-
DRD1-
-
-
-
3Gain-
DRD4-
-
-
-
1Loss-
DRGXp.G17S
Missense
SNP
0.310
2--
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSCAML1p.T1930I
Missense
SNP
0.517
2--
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSN1p.E150G
Missense
SNP
0.473
2--
DSPP-
-
-
-
1Loss-
DSTp.S5489Y
p.D5204E
Missense
Missense
SNP
SNP
0.355
0.516
2--
DTHD1-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX3Lp.A352G
Missense
SNP
0.435
2--
DTYMK-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS1L-
-
-
-
3Gain-
DUSP1-
-
-
-
3Gain-
DUSP11-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
3Gain-
DUSP22p.S93F
Missense
SNP
0.191
2--
DUSP26-
-
-
-
1Loss-
DUSP27p.E502K
Missense
SNP
0.483
2--
DUSP28-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXA-
-
-
-
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYRK1Bp.P587S
Missense
SNP
0.429
2--
DYSFp.R386K
Missense
SNP
0.682
1Loss-
DYTN-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
E2F6-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EARS2p.L488F
Missense
SNP
0.579
2--
EBF1-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
EBF3-
-
-
-
3Gain-
EBLN1p.G204E
Missense
SNP
0.392
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECE2p.E637K
Missense
SNP
0.508
2--
ECEL1-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2Lp.W108*
Nonsense
SNP
0.449
2--
EDAR-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDEM1-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDIL3p.S320F
Missense
SNP
0.587
1Loss-
EDNRAp.R41C
Missense
SNP
0.426
2--
EDNRB-
-
-
-
1Loss-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEPD1-
-
-
-
1Loss-
EFCAB3-
-
-
-
3Gain-
EFCAB8p.E1013K
Missense
SNP
0.682
2--
EFCAB9-
-
-
-
3Gain-
EFEMP1-
-
-
-
1Loss-
EFHB-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFL1-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFR3B-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFR-
-
-
-
21Amp-
EGR1-
-
-
-
1Loss-
EGR2p.E43K
Missense
SNP
0.570
2--
EGR3p.M203I
Missense
SNP
0.972
1Loss-
EGR4-
-
-
-
1Loss-
EHBP1p.E325*
Nonsense
SNP
0.343
1Loss-
EHD3-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2AK1p.Q424*
Nonsense
SNP
0.330
1Loss-
EIF2AK2-
-
-
-
1Loss-
EIF2AK3-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B4-
-
-
-
1Loss-
EIF3B-
-
-
-
1Loss-
EIF3F-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A3-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4E1Bp.G185R
Missense
SNP
0.288
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF5p.S172F
Missense
SNP
0.425
2--
EIF5B-
-
-
-
3Gain-
EIPR1-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELFN1p.E125K
Missense
SNP
0.684
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
1Loss-
ELMO2p.S95F
Missense
SNP
0.559
2--
ELMOD3-
-
-
-
3Gain-
ELOA2-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOVL1p.P189S
Missense
SNP
0.493
2--
ELOVL4p.L57F
Missense
SNP
0.426
2--
ELOVL6-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
ELSPBP1p.G122R
Missense
SNP
0.275
3Gain-
EMB-
-
-
-
4Gain-
EMC10-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML6-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMP3-
-
-
-
3Gain-
EMX1-
-
-
-
1Loss-
EN1-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOV-
-
-
-
3Gain-
ENGASE-
-
-
-
3Gain-
ENKUR-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPEP-
-
-
-
1Loss-
ENPP2p.P331L
Missense
SNP
0.474
2--
ENPP7p.P316S
Missense
SNP
0.389
3Gain-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300p.X685_splice
Splice_Site
SNP
0.596
2--
EP400p.P2706S
Missense
SNP
0.463
2--
EPAS1-
-
-
-
1Loss-
EPB41L1p.E185A
Missense
SNP
0.459
2--
EPB41L3-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L5-
-
-
-
3Gain-
EPB42-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPCAM-
-
-
-
1Loss-
EPDR1-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA7p.D678N
Missense
SNP
0.689
2--
EPHB3p.S721F
Missense
SNP
0.489
2--
EPHX2-
-
-
-
1Loss-
EPHX4-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN1-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPS8L1-
-
-
-
3Gain-
EPS8L2-
-
-
-
1Loss-
EPS8L3p.R564K
Missense
SNP
0.415
3Gain-
EPSTI1-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2p.X192_splice
Splice_Site
SNP
0.636
1Loss-
ERBB3p.A245V
Missense
SNP
0.504
2--
ERBB4-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC3-
-
-
-
3Gain-
ERCC5-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERGIC1-
-
-
-
3Gain-
ERI1-
-
-
-
1Loss-
ERI2p.T508I
Missense
SNP
0.533
2--
ERICH1-
-
-
-
1Loss-
ERICH2-
-
-
-
1Loss-
ERICH3p.W705*
p.E415K;p.K414N
Nonsense
Missense
SNP
MNP
0.364
0.599
2--
ERICH6Bp.R226C
Missense
SNP
0.304
1Loss-
ERLEC1-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMN-
-
-
-
1Loss-
ERN1p.A707T
Missense
SNP
0.505
3Gain-
ERP27-
-
-
-
1Loss-
ERVV-1-
-
-
-
3Gain-
ERVV-2p.S405F
Missense
SNP
0.744
3Gain-
ESCO2-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESRP1p.R539*
Nonsense
SNP
0.436
2--
ETAA1-
-
-
-
1Loss-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
3Gain-
ETFB-
-
-
-
3Gain-
ETNK1-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETS2-
-
-
-
1Loss-
ETV1-
-
-
-
1Loss-
EVA1A-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVI5-
-
-
-
3Gain-
EVPL-
-
-
-
3Gain-
EVX1p.G108E
Missense
SNP
0.327
1Loss-
EVX2-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXOC6B-
-
-
-
1Loss-
EXOC7-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXPH5p.N1575K
p.L804F
Missense
Missense
SNP
SNP
0.451
0.529
2--
EXTL2-
-
-
-
3Gain-
EXTL3-
-
-
-
1Loss-
EYA4p.G49D
p.M418I
Missense
Missense
SNP
SNP
0.317
0.396
2--
F10-
-
-
-
1Loss-
F12-
-
-
-
3Gain-
F13Bp.T74S
Missense
SNP
0.492
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F3-
-
-
-
3Gain-
F5p.P1377S
Missense
SNP
0.325
2--
F7-
-
-
-
1Loss-
FAAP100p.P114S
Missense
SNP
0.432
3Gain-
FABP1p.E62K
Missense
SNP
0.565
1Loss-
FABP2-
-
-
-
1Loss-
FABP6-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAF2p.E6*
Nonsense
SNP
0.333
3Gain-
FAH-
-
-
-
3Gain-
FAHD2A-
-
-
-
3Gain-
FAHD2B-
-
-
-
3Gain-
FAM102B-
-
-
-
3Gain-
FAM104A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM107Bp.E279K
Missense
SNP
0.194
1Loss-
FAM110Ap.S169L
p.P265S
Missense
Missense
SNP
SNP
0.500
0.298
2--
FAM110Bp.E289K
Missense
SNP
0.604
2--
FAM110C-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117B-
-
-
-
1Loss-
FAM120AOSp.S234F
Missense
SNP
0.184
2--
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126A-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM129Ap.S146F
Missense
SNP
0.609
3Gain-
FAM135B-
-
-
-
3Gain-
FAM136Ap.S88W
Missense
SNP
0.398
1Loss-
FAM13A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM13Cp.T126A
Missense
SNP
0.655
2--
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
3Gain-
FAM153B-
-
-
-
3Gain-
FAM153C-
-
-
-
3Gain-
FAM155A-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161A-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM169Ap.E112K
Missense
SNP
0.270
1Loss-
FAM169B-
-
-
-
3Gain-
FAM170Ap.W44*
Nonsense
SNP
0.634
1Loss-
FAM171A1p.G755E
p.K754N
p.P290L
Missense
Missense
Missense
SNP
SNP
SNP
0.302
0.673
0.438
1Loss-
FAM171B-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM175Bp.D23Y
Missense
SNP
0.595
NDND-
FAM178B-
-
-
-
3Gain-
FAM186Ap.G1276E
Missense
SNP
0.470
2--
FAM187Bp.P147L
Missense
SNP
0.491
2--
FAM188Bp.P220L
p.P564L
Missense
Missense
SNP
SNP
0.357
0.333
NDND-
FAM189Bp.S574F
Missense
SNP
0.500
2--
FAM193B-
-
-
-
3Gain-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A3-
-
-
-
3Gain-
FAM19A4-
-
-
-
1Loss-
FAM207A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM20A-
-
-
-
3Gain-
FAM20Cp.R64W
Missense
SNP
0.302
1Loss-
FAM210A-
-
-
-
1Loss-
FAM214A-
-
-
-
1Loss-
FAM216B-
-
-
-
1Loss-
FAM219B-
-
-
-
3Gain-
FAM220A-
-
-
-
1Loss-
FAM221A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM234B-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM26Ep.L302F
Missense
SNP
0.588
NDND-
FAM3B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM49A-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM65Bp.S42F
Missense
SNP
0.265
NDND-
FAM69A-
-
-
-
3Gain-
FAM69C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71E1-
-
-
-
3Gain-
FAM71E2p.P831L
p.P504L
p.E383K
Missense
Missense
Missense
SNP
SNP
SNP
0.318
0.371
0.697
3Gain-
FAM81A-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83E-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84A-
-
-
-
1Loss-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
1Loss-
FAM98A-
-
-
-
1Loss-
FAM98B-
-
-
-
1Loss-
FANCAp.L946F
Missense
SNP
0.453
2--
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCI-
-
-
-
3Gain-
FANCL-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASN-
-
-
-
3Gain-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FAT1p.R937*
Nonsense
SNP
0.446
2--
FAT2-
-
-
-
1Loss-
FAT3p.R2430G
Missense
SNP
0.551
2--
FAT4-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBF1-
-
-
-
3Gain-
FBH1-
-
-
-
1Loss-
FBLL1-
-
-
-
3Gain-
FBLN2p.P544S
Missense
SNP
0.964
1Loss-
FBLN7-
-
-
-
3Gain-
FBN1-
-
-
-
1Loss-
FBN2p.G1804E
Missense
SNP
0.381
1Loss-
FBN3p.C1933Y
Missense
SNP
0.567
2--
FBXL13p.R229C
Missense
SNP
0.467
2--
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL22-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL4p.S212F
Missense
SNP
0.490
2--
FBXL6-
-
-
-
3Gain-
FBXO11-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO18p.S592F
Missense
SNP
0.609
NDND-
FBXO21p.G558D
Missense
SNP
0.524
2--
FBXO22-
-
-
-
3Gain-
FBXO25-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO41-
-
-
-
1Loss-
FBXO48-
-
-
-
1Loss-
FBXW11-
-
-
-
3Gain-
FBXW12-
-
-
-
1Loss-
FCAR-
-
-
-
3Gain-
FCGR1B-
-
-
-
3Gain-
FCGRT-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCMRp.R247K
p.P128S
Missense
Missense
SNP
SNP
0.514
0.345
2--
FCRL1p.W77*
Nonsense
SNP
0.323
2--
FCRL5p.Y83*
Nonsense
SNP
0.554
2--
FDFT1-
-
-
-
1Loss-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
3Gain-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L5-
-
-
-
3Gain-
FERD3Lp.E110K
Missense
SNP
0.627
1Loss-
FES-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZ2-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGAp.S852F
Missense
SNP
0.444
2--
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF18-
-
-
-
3Gain-
FGF2-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF21-
-
-
-
3Gain-
FGF5-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFR4-
-
-
-
3Gain-
FGL1-
-
-
-
1Loss-
FGRp.N235S
Missense
SNP
0.660
2--
FHIT-
-
-
-
1Loss-
FHL2-
-
-
-
3Gain-
FHL5p.R107K
Missense
SNP
0.293
2--
FHOD3p.P335S
p.P485L
p.P738Q
Missense
Missense
Missense
SNP
SNP
SNP
0.633
0.500
0.194
1Loss-
FIBIN-
-
-
-
1Loss-
FIGLA-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FIGNL1-
-
-
-
1Loss-
FIZ1-
-
-
-
3Gain-
FKBP10-
-
-
-
1Loss-
FKBP14-
-
-
-
21Amp-
FKBP1B-
-
-
-
1Loss-
FKBP7-
-
-
-
1Loss-
FKBP9-
-
-
-
1Loss-
FLGp.G3795K
Missense
MNP
0.477
3Gain-
FLG2-
-
-
-
3Gain-
FLNB-
-
-
-
1Loss-
FLT3p.P253L
Missense
SNP
0.169
2--
FLT3LG-
-
-
-
3Gain-
FLT4-
-
-
-
3Gain-
FMN2p.G1231R
p.E1553K
Missense
Missense
SNP
SNP
0.421
0.581
2--
FMNL2p.H329Y
Missense
SNP
1.000
1Loss-
FMODp.N288I
Missense
SNP
0.568
2--
FN1-
-
-
-
1Loss-
FN3K-
-
-
-
3Gain-
FN3KRP-
-
-
-
3Gain-
FNBP1L-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
1Loss-
FNDC4-
-
-
-
1Loss-
FNDC7p.P375L
Missense
SNP
0.569
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXB1-
-
-
-
3Gain-
FOXD1-
-
-
-
1Loss-
FOXG1p.H52P
Missense
SNP
0.294
2--
FOXH1-
-
-
-
3Gain-
FOXI1-
-
-
-
3Gain-
FOXI2-
-
-
-
3Gain-
FOXI3-
-
-
-
1Loss-
FOXJ1-
-
-
-
1Loss-
FOXK1-
-
-
-
1Loss-
FOXK2-
-
-
-
1Loss-
FOXN2-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXP4p.G43S
Missense
SNP
0.500
2--
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPR1-
-
-
-
3Gain-
FPR2-
-
-
-
3Gain-
FPR3-
-
-
-
3Gain-
FREM2p.R1305K
p.S1430F
Missense
Missense
SNP
SNP
0.364
0.444
1Loss-
FRG2B-
-
-
-
3Gain-
FRG2C-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRRS1-
-
-
-
3Gain-
FRS3p.S145F
Missense
SNP
0.417
2--
FRY-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FRZB-
-
-
-
1Loss-
FSCBp.S590F
p.P196S
Missense
Missense
SNP
SNP
0.511
0.371
2--
FSCN1-
-
-
-
1Loss-
FSCN2-
-
-
-
3Gain-
FSD2-
-
-
-
3Gain-
FSHB-
-
-
-
1Loss-
FSHR-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSIP2p.G1128R
Missense
SNP
0.981
1Loss-
FST-
-
-
-
1Loss-
FSTL4p.G31S
Missense
SNP
0.607
1Loss-
FTCD-
-
-
-
1Loss-
FTCDNL1-
-
-
-
1Loss-
FTH1p.Y111H
Missense
SNP
0.524
2--
FTL-
-
-
-
3Gain-
FTMT-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUOM-
-
-
-
3Gain-
FURIN-
-
-
-
3Gain-
FUT1-
-
-
-
3Gain-
FUT10-
-
-
-
1Loss-
FUT2-
-
-
-
3Gain-
FUT9p.W131*
Nonsense
SNP
0.582
2--
FUZ-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FZD1p.G265C
Missense
SNP
0.592
2--
FZD3-
-
-
-
1Loss-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G3BP2p.E147K
Missense
SNP
0.556
2--
G6PCp.X77_splice
Splice_Site
SNP
0.440
2--
G6PC2-
-
-
-
1Loss-
GAAp.R794C
Missense
SNP
0.446
3Gain-
GAB4p.S256C
Missense
SNP
0.527
2--
GABBR1p.S289L
Missense
SNP
0.500
2--
GABPA-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABRA1p.N130K
p.S271F
Missense
Missense
SNP
SNP
0.336
0.244
3Gain-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRA6-
-
-
-
3Gain-
GABRB1p.M162I
Missense
SNP
0.712
1Loss-
GABRB2-
-
-
-
3Gain-
GABRB3p.M311T
Missense
SNP
0.390
2--
GABRG1-
-
-
-
1Loss-
GABRG2-
-
-
-
3Gain-
GABRP-
-
-
-
3Gain-
GAD1-
-
-
-
1Loss-
GAD2p.G103R
Missense
SNP
0.678
1Loss-
GADL1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALK1p.E43K
Missense
SNP
0.331
3Gain-
GALK2-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT13-
-
-
-
1Loss-
GALNT14-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT2p.S29P
Missense
SNP
0.564
2--
GALNT3-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALNTL6p.W60*
Nonsense
SNP
0.338
2--
GALP-
-
-
-
3Gain-
GALR1-
-
-
-
1Loss-
GALR2-
-
-
-
1Loss-
GANCp.P418S
Missense
SNP
0.966
1Loss-
GAPT-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAREM2-
-
-
-
1Loss-
GARS-
-
-
-
21Amp-
GART-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCA-
-
-
-
1Loss-
GCC2-
-
-
-
3Gain-
GCFC2-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCGR-
-
-
-
3Gain-
GCHFR-
-
-
-
1Loss-
GCK-
-
-
-
1Loss-
GCKR-
-
-
-
1Loss-
GCLM-
-
-
-
3Gain-
GCN1p.P1500S
Missense
SNP
0.597
2--
GCNT3-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCOM1-
-
-
-
3Gain-
GCSAMLp.G22E
Missense
SNP
0.569
2--
GDAP2-
-
-
-
3Gain-
GDF10p.R36M
Missense
SNP
0.368
2--
GDF7-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDPD4p.F53C
Missense
SNP
0.440
2--
GDPGP1-
-
-
-
3Gain-
GEMIN5-
-
-
-
1Loss-
GEMIN6-
-
-
-
1Loss-
GEN1-
-
-
-
1Loss-
GET4-
-
-
-
1Loss-
GFAPp.E64K
Missense
SNP
0.404
2--
GFI1-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GFPT1-
-
-
-
1Loss-
GFPT2-
-
-
-
3Gain-
GFRA2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFYp.E228K
Missense
SNP
0.310
3Gain-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCT-
-
-
-
21Amp-
GGCX-
-
-
-
3Gain-
GGNp.A477T
Missense
SNP
0.486
2--
GGNBP2p.P37S
p.G176R
Missense
Missense
SNP
SNP
0.491
0.548
2--
GGT7p.P503L
Missense
SNP
0.516
2--
GH1-
-
-
-
3Gain-
GH2p.L179Y
Missense
MNP
0.461
3Gain-
GHRHR-
-
-
-
1Loss-
GHRL-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMAP1p.V212L
p.G304E
Missense
Missense
SNP
SNP
0.652
0.212
2--
GIMD1-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GIPC3p.P260L
Missense
SNP
0.694
2--
GJA5p.*359Gext*26
Nonstop
SNP
0.552
2--
GJD4-
-
-
-
1Loss-
GK2p.P452S
Missense
SNP
0.547
2--
GKN1-
-
-
-
1Loss-
GKN2-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLCCI1-
-
-
-
1Loss-
GLCE-
-
-
-
3Gain-
GLDN-
-
-
-
1Loss-
GLI2-
-
-
-
3Gain-
GLI3p.S1013F
p.S718F
Missense
Missense
SNP
SNP
0.707
0.651
1Loss-
GLI4-
-
-
-
3Gain-
GLIPR1L2p.E299K
Missense
SNP
0.471
2--
GLMN-
-
-
-
3Gain-
GLP1Rp.D430N
Missense
SNP
0.448
2--
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLRX3-
-
-
-
3Gain-
GLS-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTSCR1p.G576E
Missense
SNP
0.529
NDND-
GLTSCR1Lp.Q431*
Nonsense
SNP
0.585
NDND-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL1-
-
-
-
1Loss-
GMCL2-
-
-
-
3Gain-
GMEB1p.M91I
Missense
SNP
0.364
2--
GMEB2p.E161D
Missense
SNP
0.616
3Gain-
GMIPp.V210E
Missense
SNP
0.600
2--
GML-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GNA12-
-
-
-
1Loss-
GNA13-
-
-
-
3Gain-
GNA15p.D280Tfs*170
Frame_Shift_Del
DEL
0.490
2--
GNAI2-
-
-
-
1Loss-
GNAI3-
-
-
-
3Gain-
GNAL-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNAT2-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNLY-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA6A-
-
-
-
3Gain-
GOLGA6B-
-
-
-
3Gain-
GOLGA6C-
-
-
-
3Gain-
GOLGA6D-
-
-
-
3Gain-
GOLGA6L2p.G692E
Missense
SNP
0.295
2--
GOLGB1p.E1957K
Missense
SNP
0.431
2--
GOLT1B-
-
-
-
1Loss-
GON4Lp.P477L
Missense
SNP
0.440
2--
GORASP1-
-
-
-
1Loss-
GORASP2-
-
-
-
1Loss-
GP6-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAMp.C70S
Missense
SNP
0.376
2--
GPAT2-
-
-
-
3Gain-
GPAT3-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPBAR1-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPD2-
-
-
-
1Loss-
GPER1-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPIHBP1-
-
-
-
3Gain-
GPN1-
-
-
-
1Loss-
GPNMB-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR141p.S217F
Missense
SNP
0.568
1Loss-
GPR142-
-
-
-
3Gain-
GPR143p.Q302*
Nonsense
SNP
1.000
NDND-
GPR146-
-
-
-
1Loss-
GPR15p.L52F
Missense
SNP
0.386
2--
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR155-
-
-
-
1Loss-
GPR158-
-
-
-
1Loss-
GPR17-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR25p.I246F
Missense
SNP
0.426
3Gain-
GPR27-
-
-
-
1Loss-
GPR32-
-
-
-
3Gain-
GPR35-
-
-
-
1Loss-
GPR4p.W180*
Nonsense
SNP
0.477
2--
GPR45-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR61-
-
-
-
3Gain-
GPR62-
-
-
-
1Loss-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR88-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRC5D-
-
-
-
1Loss-
GPRC6Ap.G325E
Missense
SNP
0.552
2--
GPRIN1-
-
-
-
3Gain-
GPRIN3-
-
-
-
1Loss-
GPS1-
-
-
-
3Gain-
GPSM2-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX6p.C32*
Nonsense
SNP
0.179
2--
GPX8-
-
-
-
1Loss-
GRAMD2A-
-
-
-
3Gain-
GRAMD2B-
-
-
-
1Loss-
GRB10-
-
-
-
1Loss-
GRB14-
-
-
-
1Loss-
GRB2-
-
-
-
3Gain-
GREB1p.P580S
Missense
SNP
0.476
1Loss-
GRHL1-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA3p.G757E
Missense
SNP
0.968
NDND-
GRIA4p.G473R
p.M525I
Missense
Missense
SNP
SNP
0.580
0.509
2--
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
1Loss-
GRIFIN-
-
-
-
1Loss-
GRIK1-
-
-
-
1Loss-
GRIK3p.S347F
Missense
SNP
0.631
2--
GRIN2B-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRIN2D-
-
-
-
3Gain-
GRINA-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK6-
-
-
-
3Gain-
GRM2-
-
-
-
1Loss-
GRM4p.P18L
Missense
SNP
0.417
2--
GRM5p.R78K
Missense
SNP
0.438
2--
GRM6-
-
-
-
3Gain-
GRM7-
-
-
-
1Loss-
GRM8p.E620K
p.P533F
Missense
Missense
SNP
MNP
0.521
0.474
2--
GRP-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GRWD1-
-
-
-
3Gain-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSDME-
-
-
-
1Loss-
GSE1p.P182S
Missense
SNP
0.379
2--
GSG1-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTA1p.G144K
Missense
MNP
0.511
2--
GSTCD-
-
-
-
1Loss-
GSTM2-
-
-
-
3Gain-
GSTM3-
-
-
-
3Gain-
GSTM4-
-
-
-
3Gain-
GSTM5-
-
-
-
3Gain-
GTDC1-
-
-
-
1Loss-
GTF2A1L-
-
-
-
1Loss-
GTF2A2-
-
-
-
3Gain-
GTF2E2-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2IRD1p.P622L
Missense
SNP
0.282
2--
GTF3C2-
-
-
-
1Loss-
GTF3C3-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GTSF1p.R38S
Missense
SNP
0.514
2--
GUCY1A2p.S336N
Missense
SNP
0.475
2--
GUCY1A3p.F335S
Missense
SNP
0.604
NDND-
GUCY2C-
-
-
-
1Loss-
GUCY2Fp.G255R
p.G122E
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
GUF1-
-
-
-
1Loss-
GULP1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYPC-
-
-
-
3Gain-
GYS1-
-
-
-
3Gain-
GYS2-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFV-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
HAAO-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD3-
-
-
-
3Gain-
HACE1p.E746V
Missense
SNP
0.616
2--
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO2-
-
-
-
3Gain-
HAPLN1-
-
-
-
1Loss-
HAPLN3-
-
-
-
3Gain-
HARSp.D364N
Missense
SNP
0.605
1Loss-
HARS2-
-
-
-
1Loss-
HAS1-
-
-
-
3Gain-
HAS3p.E544K
Missense
SNP
0.443
2--
HAT1-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBS1Lp.P414S
Missense
SNP
0.365
2--
HCN3p.E121K
Missense
SNP
0.606
2--
HCN4-
-
-
-
3Gain-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC9-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDDC3-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HDHD2-
-
-
-
1Loss-
HDLBP-
-
-
-
1Loss-
HEATR5B-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HEBP1-
-
-
-
1Loss-
HECTD4p.R4132W
Missense
SNP
0.448
2--
HECW1-
-
-
-
1Loss-
HECW2-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELZp.L507F
Missense
SNP
0.488
3Gain-
HELZ2-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HENMT1-
-
-
-
3Gain-
HERC1-
-
-
-
3Gain-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD2-
-
-
-
1Loss-
HES6-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXA-
-
-
-
3Gain-
HEXB-
-
-
-
1Loss-
HEXDC-
-
-
-
3Gain-
HFM1p.E1409K
p.L11S
Missense
Missense
SNP
SNP
0.318
0.558
3Gain-
HGH1-
-
-
-
3Gain-
HGS-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIPL2p.S375F
Missense
SNP
0.629
2--
HHLA1-
-
-
-
3Gain-
HHLA2p.E186K
Missense
SNP
0.481
2--
HIBADH-
-
-
-
1Loss-
HIBCH-
-
-
-
1Loss-
HID1p.V437M
Missense
SNP
0.529
3Gain-
HIF1Ap.P619S
Missense
SNP
0.556
2--
HIGD2A-
-
-
-
3Gain-
HIGD2B-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HIPK1-
-
-
-
3Gain-
HIPK2p.P444S
Missense
SNP
0.277
2--
HIPK3-
-
-
-
1Loss-
HIRAp.P965S
Missense
SNP
0.398
2--
HIST1H3Gp.E60K
Missense
SNP
0.715
2--
HIST4H4-
-
-
-
1Loss-
HIVEP2p.P1422S
Missense
SNP
0.413
2--
HJURP-
-
-
-
1Loss-
HK2-
-
-
-
1Loss-
HK3-
-
-
-
3Gain-
HKDC1p.D521N
Missense
SNP
0.618
2--
HLCS-
-
-
-
1Loss-
HLTFp.T900S
p.G299S
Missense
Missense
SNP
SNP
0.384
0.667
2--
HMBOX1-
-
-
-
1Loss-
HMCN1p.L364F
Missense
SNP
0.516
3Gain-
HMCN2p.P1386S
Missense
SNP
1.000
2--
HMG20A-
-
-
-
3Gain-
HMGB1-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS2-
-
-
-
3Gain-
HMGN1-
-
-
-
1Loss-
HMGXB3p.P346S
Missense
SNP
0.587
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HNMT-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
2-RNA5-8SN2--HNRNPA1
HNRNPA2B1-
-
-
-
1Loss-
HNRNPA3-
-
-
-
1Loss-
HNRNPAB-
-
-
-
3Gain-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPH1-
-
-
-
3Gain-
HNRNPLL-
-
-
-
1Loss-
HNRNPRp.R232C
Missense
SNP
0.526
2--
HNRNPUL1p.S244L
p.P370S
Missense
Missense
SNP
SNP
0.548
0.412
2--
HNRNPUL2p.P99S
Missense
SNP
0.639
2--
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
3Gain-
HOPXp.P89L
Missense
SNP
0.481
2--
HOXA1-
-
-
-
1Loss-
HOXA10-
-
-
-
1Loss-
HOXA11-
-
-
-
1Loss-
HOXA13-
-
-
-
1Loss-
HOXA2-
-
-
-
1Loss-
HOXA3-
-
-
-
1Loss-
HOXA4-
-
-
-
1Loss-
HOXA5-
-
-
-
1Loss-
HOXA6-
-
-
-
1Loss-
HOXA7-
-
-
-
1Loss-
HOXA9-
-
-
-
1Loss-
HOXB9p.P29F
Missense
MNP
0.485
2--
HOXD1-
-
-
-
1Loss-
HOXD10-
-
-
-
1Loss-
HOXD11-
-
-
-
1Loss-
HOXD12-
-
-
-
1Loss-
HOXD13-
-
-
-
1Loss-
HOXD3-
-
-
-
1Loss-
HOXD4-
-
-
-
1Loss-
HOXD8-
-
-
-
1Loss-
HOXD9-
-
-
-
1Loss-
HPCAL1-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRC-
-
-
-
3Gain-
HRGp.D146N
Missense
SNP
0.558
2--
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
3Gain-
HRH4p.F169L
p.S351F
Missense
Missense
SNP
SNP
0.440
0.261
2--
HRNRp.G2277S
Missense
SNP
0.107
3Gain-
HS1BP3-
-
-
-
1Loss-
HS3ST4p.P290L
p.G366E
Missense
Missense
SNP
SNP
0.490
0.468
2--
HS6ST1-
-
-
-
3Gain-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B14-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD3B1-
-
-
-
3Gain-
HSD3B2-
-
-
-
3Gain-
HSD3BP3.
Splice_Site
SNP
0.493
NDND-
HSF1-
-
-
-
3Gain-
HSF2BP-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPB8p.S57F
Missense
SNP
0.404
2--
HSPBP1-
-
-
-
3Gain-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HSPG2p.Q3379*
Nonsense
SNP
0.324
2--
HSPH1-
-
-
-
1Loss-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTRA2-
-
-
-
1Loss-
HTTp.P2603L
Missense
SNP
0.339
2--
HUNK-
-
-
-
1Loss-
HUS1-
-
-
-
1Loss-
HUWE1p.R4334C
Missense
SNP
1.000
NDND-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYDINp.E4113K
p.V1416A
Missense
Missense
SNP
SNP
0.485
0.533
2--
HYKK-
-
-
-
3Gain-
HYOU1p.E403K
Missense
SNP
0.513
2--
HYPK-
-
-
-
1Loss-
IAH1-
-
-
-
1Loss-
IAPP-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICA1p.X301_splice
Splice_Site
SNP
0.371
1Loss-
ICA1L-
-
-
-
1Loss-
ICAM2-
-
-
-
3Gain-
ICE2-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
ICOSLG-
-
-
-
1Loss-
ID2-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFIH1-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT172-
-
-
-
1Loss-
IFT81p.S77L
Missense
SNP
0.439
2--
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1R-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2BP2p.G598E
Missense
SNP
0.511
2--
IGF2BP3-
-
-
-
1Loss-
IGFBP1-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFN1p.K1959E
p.P3227S
Missense
Missense
SNP
SNP
0.078
0.591
2--
IGHV1-46p.S40F
Missense
SNP
0.365
NDND-
IGHV3-23p.D109N
Missense
SNP
0.272
NDND-
IGIP-
-
-
-
1Loss-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLON5-
-
-
-
3Gain-
IGLV3-32p.D67N
Missense
SNP
0.384
NDND-
IGLV6-57p.K35Q
Missense
SNP
0.438
NDND-
IGSF10p.P1082S
Missense
SNP
0.479
2--
IGSF11p.R394K
Missense
SNP
0.496
2--
IGSF22-
-
-
-
1Loss-
IGSF23.
Splice_Site
SNP
0.500
2--
IGSF3-
-
-
-
3Gain-
IGSF5-
-
-
-
1Loss-
IGSF9Bp.N329S
Missense
SNP
0.667
2--
IHH-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKZF1-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL10RB-
-
-
-
1Loss-
IL11-
-
-
-
3Gain-
IL12B-
-
-
-
3Gain-
IL13-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL16p.E263K
Missense
SNP
0.600
3Gain-
IL17B-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL1A-
-
-
-
3Gain-
IL1B-
-
-
-
3Gain-
IL1F10-
-
-
-
3Gain-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RAPL1p.S146F
Missense
SNP
0.989
NDND-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL1RN-
-
-
-
3Gain-
IL2-
-
-
-
1Loss-
IL21-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL36A-
-
-
-
3Gain-
IL36B-
-
-
-
3Gain-
IL36G-
-
-
-
3Gain-
IL36RN-
-
-
-
3Gain-
IL37-
-
-
-
3Gain-
IL4-
-
-
-
1Loss-
IL4I1-
-
-
-
3Gain-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILDR1p.E445K
Missense
SNP
0.545
2--
ILDR2p.R101*
Nonsense
SNP
0.384
2--
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMMT-
-
-
-
1Loss-
IMP3-
-
-
-
3Gain-
IMPA2-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBAp.D414N
Missense
SNP
0.389
1Loss-
INHBB-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INKA2-
-
-
-
3Gain-
INMT-
-
-
-
21Amp-
INMT-MINDY4-
-
-
-
21Amp-
INO80-
-
-
-
1Loss-
INO80B-
-
-
-
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
1Loss-
INPP1-
-
-
-
1Loss-
INPP4A-
-
-
-
3Gain-
INPP4B-
-
-
-
1Loss-
INPP5Ap.X216_splice
Splice_Site
SNP
0.297
3Gain-
INPP5D-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSCp.E103K
Missense
SNP
1.000
1Loss-
INSIG2-
-
-
-
3Gain-
INSYN1-
-
-
-
3Gain-
INSYN2-
-
-
-
3Gain-
INSYN2B-
-
-
-
3Gain-
INTS1-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS9-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO4p.H156Y
Missense
SNP
0.516
2--
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPO9p.T102A
Missense
SNP
0.481
2--
IPPp.L192P
Missense
SNP
0.632
2--
IQANK1-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCE-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2p.R4*
Nonsense
SNP
1.000
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCH-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP2p.S621C
Missense
SNP
0.306
1Loss-
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IREB2-
-
-
-
3Gain-
IRF1-
-
-
-
1Loss-
IRF3-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRX2p.P347S
Missense
SNP
0.512
2--
ISG20-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISOC2-
-
-
-
3Gain-
ISPD-
-
-
-
1Loss-
ITCHp.P250L
Missense
SNP
0.526
2--
ITGA1-
-
-
-
1Loss-
ITGA11-
-
-
-
3Gain-
ITGA2-
-
-
-
1Loss-
ITGA4-
-
-
-
1Loss-
ITGA6-
-
-
-
1Loss-
ITGA8-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGALp.Q564*
Nonsense
SNP
0.534
2--
ITGAV-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGB4-
-
-
-
3Gain-
ITGB6-
-
-
-
1Loss-
ITGB8-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH3p.G873R
Missense
SNP
0.982
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITIH6p.T632I
Missense
SNP
1.000
NDND-
ITK-
-
-
-
1Loss-
ITLN1p.P111S
Missense
SNP
0.500
2--
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKCp.G562E
Missense
SNP
0.286
2--
ITPR1-
-
-
-
1Loss-
ITPR3p.P1707L
Missense
SNP
0.577
2--
ITPRID1-
-
-
-
1Loss-
ITPRID2-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
3Gain-
ITSN1-
-
-
-
1Loss-
ITSN2-
-
-
-
1Loss-
IVD-
-
-
-
1Loss-
IVLp.Q348K
Missense
SNP
0.571
2--
IVNS1ABP-
-
-
-
3Gain-
IWS1-
-
-
-
3Gain-
IZUMO1-
-
-
-
3Gain-
IZUMO1Rp.S193F
Missense
SNP
0.452
2--
IZUMO2-
-
-
-
3Gain-
JADE2-
-
-
-
1Loss-
JAG2p.X476_splice
Splice_Site
SNP
0.435
2--
JAGN1-
-
-
-
1Loss-
JAKMIP2p.X644_splice
Splice_Site
SNP
0.333
1Loss-
JAKMIP3p.E331Q
Missense
SNP
0.217
3Gain-
JAM2-
-
-
-
1Loss-
JAZF1-
-
-
-
1Loss-
JCAD-
-
-
-
1Loss-
JMJD6p.P330L
Missense
SNP
0.522
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JOSD2-
-
-
-
3Gain-
JPT1-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
JUNBp.P165S
Missense
SNP
0.554
2--
KANSL1L-
-
-
-
1Loss-
KANSL3p.P793S
Missense
SNP
0.482
3Gain-
KAT2B-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KAZNp.E55K
Missense
SNP
0.671
2--
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCMF1-
-
-
-
1Loss-
KCNA10-
-
-
-
3Gain-
KCNA2-
-
-
-
3Gain-
KCNA3p.E183K
Missense
SNP
0.541
3Gain-
KCNA4-
-
-
-
1Loss-
KCNA7-
-
-
-
3Gain-
KCNB2p.K563*
Nonsense
SNP
0.403
2--
KCNC1-
-
-
-
1Loss-
KCNC3-
-
-
-
3Gain-
KCNC4-
-
-
-
3Gain-
KCND2p.D151N
p.E323K
Missense
Missense
SNP
SNP
0.548
0.703
2--
KCND3p.S162L
Missense
SNP
0.508
3Gain-
KCNE1-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNF1-
-
-
-
1Loss-
KCNG1p.E158K
Missense
SNP
0.596
2--
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNH3p.G708R
Missense
SNP
0.506
2--
KCNH6-
-
-
-
3Gain-
KCNH7p.E810K
Missense
SNP
1.000
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
3Gain-
KCNIP3-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ12p.R428K
Missense
SNP
0.217
2--
KCNJ13-
-
-
-
1Loss-
KCNJ14-
-
-
-
3Gain-
KCNJ15-
-
-
-
1Loss-
KCNJ16-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ3-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNJ8-
-
-
-
1Loss-
KCNK12-
-
-
-
1Loss-
KCNK3-
-
-
-
1Loss-
KCNK9p.P281L
Missense
SNP
0.316
3Gain-
KCNMB1-
-
-
-
3Gain-
KCNN2-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ3p.S664F
Missense
SNP
0.590
3Gain-
KCNRG-
-
-
-
1Loss-
KCNS2p.G234S
Missense
SNP
0.502
2--
KCNS3-
-
-
-
1Loss-
KCNT2p.R1117Q
p.G915R
Missense
Missense
SNP
SNP
0.578
0.491
3Gain-
KCNU1-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELR1-
-
-
-
3Gain-
KDELR2p.V65L
Missense
SNP
0.364
1Loss-
KDF1-
-
-
-
1Loss-
KDM3A-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM4Ep.E226K
Missense
SNP
0.507
2--
KDM5B-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KHDRBS3-
-
-
-
3Gain-
KHK-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
1Loss-
KIAA1024-
-
-
-
3Gain-
KIAA1024L-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1191-
-
-
-
3Gain-
KIAA1210p.R523W
Missense
SNP
1.000
NDND-
KIAA1211p.E209K
Missense
SNP
0.463
2--
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1324p.G346E
Missense
SNP
0.375
3Gain-
KIAA1324Lp.G431E
Missense
SNP
0.352
2--
KIAA1328p.S451L
Missense
SNP
0.602
1Loss-
KIAA1468p.G121C
Missense
SNP
0.605
NDND-
KIAA1549p.P1475S
Missense
SNP
0.500
2--
KIAA1549L-
-
-
-
1Loss-
KIAA1841-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIDINS220-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF19p.P755S
Missense
SNP
0.399
3Gain-
KIF1A-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20Bp.I944V
Missense
SNP
0.596
2--
KIF21Ap.L759F
Missense
SNP
0.379
2--
KIF21Bp.S516F
Missense
SNP
0.366
2--
KIF22p.S452F
Missense
SNP
0.485
2--
KIF23-
-
-
-
3Gain-
KIF24p.P754Q
Missense
SNP
0.995
2--
KIF2Ap.S107L
Missense
SNP
0.667
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3C-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5Ap.G44E
Missense
SNP
0.490
2--
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
1Loss-
KIF7p.D1267N
Missense
SNP
0.507
3Gain-
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KIR2DL1-
-
-
-
3Gain-
KIR2DL3p.G193E
Missense
SNP
0.291
3Gain-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1-
-
-
-
3Gain-
KIR3DL2-
-
-
-
3Gain-
KIR3DL3-
-
-
-
3Gain-
KIR3DX1p.H174Y
Missense
SNP
0.326
NDND-
KITp.W246*
Nonsense
SNP
0.400
2--
KL-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLF11-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL10-
-
-
-
1Loss-
KLHL11-
-
-
-
1Loss-
KLHL13p.H484Y
Missense
SNP
1.000
NDND-
KLHL14p.E540K
Missense
SNP
0.692
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL23-
-
-
-
1Loss-
KLHL25-
-
-
-
3Gain-
KLHL29-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL35p.S369Y
Missense
SNP
0.471
2--
KLHL40-
-
-
-
1Loss-
KLHL41-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL7-
-
-
-
1Loss-
KLHL8-
-
-
-
1Loss-
KLK1-
-
-
-
3Gain-
KLK10-
-
-
-
3Gain-
KLK11-
-
-
-
3Gain-
KLK12-
-
-
-
3Gain-
KLK13-
-
-
-
3Gain-
KLK14-
-
-
-
3Gain-
KLK15p.V214I
Missense
SNP
0.351
3Gain-
KLK2-
-
-
-
3Gain-
KLK3-
-
-
-
3Gain-
KLK4-
-
-
-
3Gain-
KLK5-
-
-
-
3Gain-
KLK6-
-
-
-
3Gain-
KLK7-
-
-
-
3Gain-
KLK8-
-
-
-
3Gain-
KLK9-
-
-
-
3Gain-
KMT2Ap.P327L
p.S2294F
Missense
Missense
SNP
SNP
0.413
0.460
2--
KMT2Dp.E3083*
p.P2499L
p.P984L
Nonsense
Missense
Missense
SNP
SNP
SNP
0.438
0.489
0.476
2--
KMT5C-
-
-
-
3Gain-
KNDC1p.E276K
Missense
SNP
0.337
3Gain-
KNG1p.K97N
Missense
SNP
0.459
2--
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA2p.P57L
Missense
SNP
0.505
3Gain-
KPNA3-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KRT13p.R27H
Missense
SNP
0.460
2--
KRT25p.T209I
Missense
SNP
0.390
2--
KRT39p.P54L
Missense
SNP
0.367
2--
KRT76p.P152I
Missense
MNP
0.514
2--
KRT84p.S348N
p.S178C
Missense
Missense
SNP
SNP
0.424
0.407
2--
KRT85p.E337D
Missense
SNP
0.466
2--
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP12-1-
-
-
-
1Loss-
KRTAP12-2-
-
-
-
1Loss-
KRTAP12-3-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5p.G16K
Missense
MNP
1.000
1Loss-
KRTAP19-6-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP20-4-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP21-3-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP6-3-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTAP9-9p.G87R
Missense
SNP
0.516
2--
KRTCAP3-
-
-
-
1Loss-
KYNU-
-
-
-
1Loss-
L3MBTL1p.P691S
Missense
SNP
0.304
2--
L3MBTL4-
-
-
-
1Loss-
LACC1p.P286S
Missense
SNP
0.407
1Loss-
LACTB-
-
-
-
3Gain-
LAIR1-
-
-
-
3Gain-
LAIR2-
-
-
-
3Gain-
LAMA1-
-
-
-
1Loss-
LAMA2p.E1303K
Missense
SNP
0.444
2--
LAMB2-
-
-
-
1Loss-
LAMC1-
-
-
-
3Gain-
LAMC2p.P299S
p.R780M
Missense
Missense
SNP
SNP
0.500
0.591
3Gain-
LAMP1-
-
-
-
1Loss-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
3Gain-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
21Amp-
LAPTM4A-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARP6-
-
-
-
3Gain-
LARP7-
-
-
-
1Loss-
LARSp.S163F
Missense
SNP
0.270
1Loss-
LARS2-
-
-
-
1Loss-
LATS2p.P991L
Missense
SNP
0.254
2--
LBH-
-
-
-
1Loss-
LBX2-
-
-
-
1Loss-
LCA5L-
-
-
-
1Loss-
LCE1Ap.S106L
Missense
MNP
0.743
2--
LCLAT1-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
3Gain-
LCTp.P383S
Missense
SNP
1.000
1Loss-
LCTL-
-
-
-
3Gain-
LDAH-
-
-
-
1Loss-
LDB2p.A63V
Missense
SNP
0.656
2--
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6Bp.P203L
Missense
SNP
0.508
3Gain-
LDHB-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LENG1-
-
-
-
3Gain-
LENG8-
-
-
-
3Gain-
LENG9-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETMD1p.S346F
Missense
SNP
0.439
2--
LEXMp.S335F
Missense
SNP
0.522
2--
LFNG-
-
-
-
1Loss-
LGALS3BP-
-
-
-
3Gain-
LGALSL-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LHB-
-
-
-
3Gain-
LHCGR-
-
-
-
1Loss-
LHFPp.G174R
Missense
SNP
0.483
NDND-
LHFPL2-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHX9-
-
-
-
3Gain-
LIAS-
-
-
-
1Loss-
LIG1-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LILRA1-
-
-
-
3Gain-
LILRA2-
-
-
-
3Gain-
LILRA4-
-
-
-
3Gain-
LILRA5-
-
-
-
3Gain-
LILRA6-
-
-
-
3Gain-
LILRB1-
-
-
-
3Gain-
LILRB2-
-
-
-
3Gain-
LILRB3-
-
-
-
3Gain-
LILRB4-
-
-
-
3Gain-
LILRB5-
-
-
-
3Gain-
LIM2-
-
-
-
3Gain-
LIMCH1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMD2-
-
-
-
3Gain-
LIME1-
-
-
-
3Gain-
LIMS1-
-
-
-
3Gain-
LIMS2-
-
-
-
3Gain-
LIMS3-
-
-
-
3Gain-
LIMS3-LOC440895-
-
-
-
3Gain-
LIMS4-
-
-
-
3Gain-
LIN54-
-
-
-
1Loss-
LIN7B-
-
-
-
3Gain-
LIN7C-
-
-
-
1Loss-
LINGO1-
-
-
-
3Gain-
LINS1-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LIPNp.G342R
Missense
SNP
0.641
2--
LIPT1-
-
-
-
3Gain-
LIX1-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
3Gain-
LMAN2-
-
-
-
3Gain-
LMAN2L-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMNAp.P22F
Missense
MNP
0.456
2--
LMNB1-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMTK3-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LNPK-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LONRF2-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXHD1p.E586K
Missense
SNP
0.725
1Loss-
LOXL1-
-
-
-
3Gain-
LOXL2p.Y33*
Nonsense
SNP
1.000
1Loss-
LOXL3-
-
-
-
1Loss-
LPAp.Q1386H
Missense
SNP
0.300
2--
LPAR6-
-
-
-
1Loss-
LPCAT4p.D382N;p.X382_splice
Splice_Site
MNP
0.371
2--
LPIN1-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPIN3p.S175F
Missense
SNP
0.345
2--
LPL-
-
-
-
1Loss-
LPPp.C593R
Missense
SNP
0.568
2--
LRCH1p.L747F
Missense
SNP
0.526
1Loss-
LRFN3p.A104V
Missense
SNP
0.492
2--
LRIF1-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
3Gain-
LRIT2p.W286*
Nonsense
SNP
0.529
2--
LRIT3-
-
-
-
1Loss-
LRP1Bp.Y2686Ifs*11
p.Q1125*
Frame_Shift_Del
Nonsense
DEL
SNP
0.932
0.943
1Loss-
LRP2p.R2095Q
Missense
SNP
1.000
1Loss-
LRP6-
-
-
-
1Loss-
LRP8p.S470F
Missense
SNP
0.608
2--
LRPPRC-
-
-
-
1Loss-
LRRC14-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC27-
-
-
-
3Gain-
LRRC28-
-
-
-
3Gain-
LRRC3-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC37A3p.P1250L
Missense
SNP
0.431
3Gain-
LRRC39-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC43p.D228N
Missense
SNP
0.443
2--
LRRC45-
-
-
-
3Gain-
LRRC49-
-
-
-
3Gain-
LRRC4Bp.G523S
p.G49E
Missense
Missense
SNP
SNP
0.259
0.316
3Gain-
LRRC55p.S33F
Missense
SNP
0.459
2--
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC7p.L375F
p.E450K
Missense
Missense
SNP
SNP
0.408
0.617
2--
LRRC70-
-
-
-
1Loss-
LRRC72-
-
-
-
1Loss-
LRRC8Cp.P769S
Missense
SNP
0.390
3Gain-
LRRC8Dp.L4F
Missense
SNP
0.645
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRK1-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRRTM1-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRRTM4p.G331E
p.D103N
Missense
Missense
SNP
SNP
0.367
0.641
1Loss-
LRTM1-
-
-
-
1Loss-
LSM11-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LTBP1p.P670S
Missense
SNP
0.630
1Loss-
LTBP3p.S256F
Missense
SNP
0.452
2--
LTC4S-
-
-
-
3Gain-
LTF-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LUZP4p.P96L
Missense
SNP
1.000
NDND-
LVRN-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY75-
-
-
-
1Loss-
LY75-CD302-
-
-
-
1Loss-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD3p.S84L
Missense
SNP
0.461
2--
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
LZTS2p.E108K
Missense
SNP
0.429
2--
M1APp.S298P
Missense
SNP
0.567
1Loss-
MAB21L1-
-
-
-
1Loss-
MAB21L3p.P340L
Missense
SNP
0.361
3Gain-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
1Loss-
MACF1p.R5203C
Missense
SNP
0.352
2--
MAD1L1-
-
-
-
1Loss-
MAD2L1-
-
-
-
1Loss-
MADCAM1p.G160R
Missense
SNP
0.655
2--
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFG-
-
-
-
3Gain-
MAFK-
-
-
-
1Loss-
MAGEB6p.D256N
Missense
SNP
1.000
NDND-
MAGEC1p.G402S
Missense
SNP
0.996
NDND-
MAGI1-
-
-
-
1Loss-
MAGI2p.P273S
Missense
SNP
0.409
2--
MAGI3-
-
-
-
3Gain-
MAIP1-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAL-
-
-
-
3Gain-
MALL-
-
-
-
3Gain-
MALRD1p.H115Y
p.D308N
Missense
Missense
SNP
SNP
0.676
0.316
1Loss-
MALSU1-
-
-
-
1Loss-
MALT1p.G421R
Missense
SNP
0.718
1Loss-
MAML1-
-
-
-
3Gain-
MAMLD1p.D42N
Missense
SNP
1.000
NDND-
MAMSTR-
-
-
-
3Gain-
MAN1A2-
-
-
-
3Gain-
MAN2A1-
-
-
-
1Loss-
MAN2A2p.S495F
Missense
SNP
0.475
3Gain-
MAN2C1p.P688S
Missense
SNP
0.437
3Gain-
MANBA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1Sp.S478F
Missense
SNP
0.573
2--
MAP2p.P465S
Missense
SNP
0.963
1Loss-
MAP2K1-
-
-
-
3Gain-
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP3K1-
-
-
-
1Loss-
MAP3K10p.S596C
Missense
SNP
0.411
2--
MAP3K19-
-
-
-
1Loss-
MAP3K2p.P166T
Missense
SNP
0.360
3Gain-
MAP3K20-
-
-
-
1Loss-
MAP3K3-
-
-
-
3Gain-
MAP3K5p.S1221L
Missense
SNP
0.450
2--
MAP3K6p.L1180M
Missense
SNP
0.420
2--
MAP3K7p.S565F
Missense
SNP
0.305
2--
MAP3K7CL-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP3K9p.P912L
Missense
SNP
0.519
2--
MAP4-
-
-
-
1Loss-
MAP4K3p.V182A
Missense
SNP
0.298
1Loss-
MAP4K4-
-
-
-
3Gain-
MAPK10-
-
-
-
1Loss-
MAPK12p.L170R
Missense
SNP
0.377
2--
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK9-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MAPRE3-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH7-
-
-
-
1Loss-
MARCOp.G349E
Missense
SNP
0.373
3Gain-
MARK1p.S20F
Missense
SNP
0.403
2--
MARS2-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP1p.P501S
p.G471R
Missense
Missense
SNP
SNP
0.551
0.568
2--
MASP2p.P299L
Missense
SNP
0.810
2--
MAST4-
-
-
-
1Loss-
MASTL-
-
-
-
12Amp-
MAT1Ap.I266N
Missense
SNP
0.476
2--
MAT2A-
-
-
-
3Gain-
MAT2B-
-
-
-
3Gain-
MATN3-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MB21D2p.H170Y
Missense
SNP
0.511
2--
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD5p.P284S
Missense
SNP
1.000
1Loss-
MBL2p.K75*
Nonsense
SNP
0.593
2--
MBLAC2-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBOAT2-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBOAT7-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MC2Rp.G116D
Missense
SNP
1.000
1Loss-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCCp.X295_splice
Splice_Site
SNP
0.250
1Loss-
MCCC2-
-
-
-
1Loss-
MCEE-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCFD2-
-
-
-
1Loss-
MCHR1p.S312F
Missense
SNP
0.652
2--
MCHR2p.Y148D
Missense
SNP
0.563
2--
MCIDAS-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM3AP-
-
-
-
1Loss-
MCM6-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCRIP1-
-
-
-
3Gain-
MCTP1-
-
-
-
1Loss-
MCTP2p.Q676P
Missense
SNP
0.496
3Gain-
MCUB-
-
-
-
1Loss-
MDGA1p.G497E
Missense
SNP
0.619
2--
MDH1-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MECOMp.G676K
Missense
MNP
0.409
2--
MED1p.L783F
Missense
SNP
0.471
2--
MED13-
-
-
-
3Gain-
MED25-
-
-
-
3Gain-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEF2A-
-
-
-
3Gain-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
3Gain-
MEGF8p.P2199F
Missense
MNP
0.519
2--
MEIG1-
-
-
-
1Loss-
MEIS1-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MEMO1-
-
-
-
1Loss-
MEOX2-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MERTKp.P976S
Missense
SNP
0.314
3Gain-
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
METAP1-
-
-
-
1Loss-
METAP1D-
-
-
-
1Loss-
METRNL-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL21Cp.G17R
Missense
SNP
0.323
1Loss-
METTL23-
-
-
-
3Gain-
METTL2Ap.S178F
Missense
SNP
0.413
3Gain-
METTL2Bp.S178F
Missense
SNP
0.215
2--
METTL4-
-
-
-
1Loss-
METTL5-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
METTL8-
-
-
-
1Loss-
MEX3B-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFGE8-
-
-
-
3Gain-
MFHAS1-
-
-
-
1Loss-
MFSD10p.S417L
Missense
SNP
0.268
2--
MFSD11-
-
-
-
3Gain-
MFSD14A-
-
-
-
3Gain-
MFSD2B-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MFSD4Ap.P19L
Missense
SNP
0.374
2--
MFSD6-
-
-
-
1Loss-
MFSD9p.G75E
Missense
SNP
0.374
3Gain-
MGA-
-
-
-
1Loss-
MGAM2p.G1702S
Missense
SNP
0.556
2--
MGAT1-
-
-
-
3Gain-
MGAT4Ap.P210S
Missense
SNP
0.563
3Gain-
MGAT4B-
-
-
-
3Gain-
MGAT5-
-
-
-
1Loss-
MGAT5B-
-
-
-
3Gain-
MGMT-
-
-
-
3Gain-
MGP-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MICAL2p.P96S
Missense
SNP
1.000
1Loss-
MICALL2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIDNp.S220F
Missense
SNP
0.333
2--
MIER3-
-
-
-
1Loss-
MIF4GD-
-
-
-
3Gain-
MILR1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
1Loss-
MIOS-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISPp.E304K
Missense
SNP
0.259
2--
MITD1-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MKI67p.G3139V
Missense
SNP
0.708
3Gain-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKX-
-
-
-
7Amp-
MLH1-
-
-
-
1Loss-
MLIPp.P914S
Missense
SNP
0.276
2--
MLLT10-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MLXIPLp.P417F
Missense
MNP
0.629
2--
MMADHC-
-
-
-
1Loss-
MMD2p.W91*
Nonsense
SNP
0.400
1Loss-
MMP13p.M116I
Missense
SNP
0.511
2--
MMP26-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNS1-
-
-
-
3Gain-
MOB1A-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB4-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS1p.E34K
Missense
SNP
0.475
2--
MOCS2-
-
-
-
1Loss-
MOGp.P293S
Missense
SNP
0.228
2--
MOGAT1-
-
-
-
1Loss-
MOGS-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON2p.L1163V
Missense
SNP
0.420
2--
MORC1p.E155K
Missense
SNP
0.500
2--
MORC3-
-
-
-
1Loss-
MORF4L1-
-
-
-
3Gain-
MORN2-
-
-
-
1Loss-
MOV10-
-
-
-
3Gain-
MPHOSPH10-
-
-
-
1Loss-
MPI-
-
-
-
3Gain-
MPLKIP-
-
-
-
1Loss-
MPP4-
-
-
-
1Loss-
MPP6-
-
-
-
1Loss-
MPP7-
-
-
-
1Loss-
MPPE1-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPRIPp.H1407Y
Missense
SNP
0.400
2--
MPV17-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRC1p.R558K
Missense
SNP
0.704
1Loss-
MRC2-
-
-
-
3Gain-
MREG-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM2-
-
-
-
1Loss-
MRNIP-
-
-
-
3Gain-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2Ap.L1425F
Missense
SNP
1.000
1Loss-
MROH2Bp.L377F
p.Y165N
Missense
Missense
SNP
SNP
0.451
0.520
2--
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH7p.G119R
Missense
SNP
0.528
2--
MROH8p.D179N
Missense
SNP
0.592
1Loss-
MRPL12-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL19-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL30-
-
-
-
3Gain-
MRPL32-
-
-
-
1Loss-
MRPL33-
-
-
-
1Loss-
MRPL35-
-
-
-
1Loss-
MRPL38-
-
-
-
3Gain-
MRPL39-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL45p.P267L
Missense
SNP
0.488
2--
MRPL46-
-
-
-
3Gain-
MRPL53-
-
-
-
1Loss-
MRPL58-
-
-
-
3Gain-
MRPS11-
-
-
-
3Gain-
MRPS17-
-
-
-
20Amp-
MRPS18C-
-
-
-
1Loss-
MRPS24-
-
-
-
1Loss-
MRPS25-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS31p.D193N
Missense
SNP
0.974
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS5-
-
-
-
3Gain-
MRPS6-
-
-
-
1Loss-
MRPS7-
-
-
-
3Gain-
MRPS9-
-
-
-
3Gain-
MRVI1-
-
-
-
1Loss-
MS4A14p.S118F
Missense
SNP
0.488
2--
MSGN1-
-
-
-
1Loss-
MSH2-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH6-
-
-
-
1Loss-
MSR1p.P301S
Missense
SNP
1.000
1Loss-
MSRA-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MSRB3p.G177R
Missense
SNP
0.429
2--
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTN-
-
-
-
1Loss-
MSX2-
-
-
-
3Gain-
MTA3-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTF2-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTG1-
-
-
-
3Gain-
MTHFD2p.G291R
Missense
SNP
0.643
1Loss-
MTHFS-
-
-
-
3Gain-
MTIF2-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
21Amp-
MTUS1-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MTX2-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC15-
-
-
-
1Loss-
MUC16p.L12464F
p.S11789L
p.R10696K
p.H8640Y
p.S6804F
p.T6757I
p.G6182E
p.G5317D
p.G1407E
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.629
0.295
0.394
0.368
0.500
0.654
0.427
0.575
0.550
2--
MUC2-
-
-
-
1Loss-
MUC22p.G294S
p.R915K
Missense
Missense
SNP
SNP
0.280
0.710
2--
MUC3Ap.P3000L
Missense
SNP
0.318
2--
MUC5ACp.S4643F
Missense
SNP
1.000
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUCL1p.A10E
Missense
SNP
0.208
2--
MUSTN1-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MXD1-
-
-
-
1Loss-
MXD3-
-
-
-
3Gain-
MXRA7-
-
-
-
3Gain-
MYADM-
-
-
-
3Gain-
MYADML2-
-
-
-
3Gain-
MYBPC2-
-
-
-
3Gain-
MYBPC3p.E843K
Missense
SNP
0.515
2--
MYBPHL-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCBPAPp.S343F
Missense
SNP
0.439
2--
MYCN-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH1p.E681K
Missense
SNP
0.487
2--
MYH11p.E1053K
Missense
SNP
0.427
2--
MYH13p.G1811S
Missense
SNP
0.455
2--
MYH14-
-
-
-
3Gain-
MYH3p.E876K
Missense
SNP
0.310
2--
MYH8p.P544L
Missense
SNP
0.477
2--
MYL1-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL7-
-
-
-
1Loss-
MYLKp.E1001K
Missense
SNP
0.484
2--
MYO15Ap.S48F
Missense
SNP
0.553
2--
MYO15B-
-
-
-
3Gain-
MYO16p.D426N
p.P889S
Missense
Missense
SNP
SNP
0.321
0.370
1Loss-
MYO18Bp.S705C
p.G1514R
Missense
Missense
SNP
SNP
0.469
0.553
2--
MYO1B-
-
-
-
1Loss-
MYO1E-
-
-
-
3Gain-
MYO1G-
-
-
-
1Loss-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO7Ap.P1887S
Missense
SNP
0.411
2--
MYO7Bp.E380K
p.G613E
Missense
Missense
SNP
SNP
0.353
0.377
3Gain-
MYO9A-
-
-
-
3Gain-
MYO9Bp.S1442F
Missense
SNP
0.448
2--
MYOD1-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPNp.P568S
Missense
SNP
0.688
2--
MYRIP-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MYT1L-
-
-
-
1Loss-
MYZAP-
-
-
-
3Gain-
MZB1-
-
-
-
1Loss-
MZF1-
-
-
-
3Gain-
MZT1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N4BP3-
-
-
-
3Gain-
N6AMT1-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAAAp.I80F
Missense
SNP
0.488
2--
NAB1-
-
-
-
1Loss-
NABP1-
-
-
-
1Loss-
NACA2-
-
-
-
3Gain-
NACADp.E1260K
Missense
SNP
0.260
1Loss-
NADSYN1p.S423F
Missense
SNP
0.526
2--
NAGK-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPGp.P224S
Missense
SNP
0.954
1Loss-
NAPRT-
-
-
-
3Gain-
NAPSA-
-
-
-
3Gain-
NARF-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT14p.V74L
Missense
SNP
0.280
3Gain-
NAT2-
-
-
-
1Loss-
NAT6p.P15S
Missense
SNP
1.000
NDND-
NAT8-
-
-
-
1Loss-
NAT9-
-
-
-
3Gain-
NAV2-
-
-
-
1Loss-
NAV3p.S592F
Missense
SNP
0.194
2--
NAXD-
-
-
-
1Loss-
NBAS-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBPF26-
-
-
-
3Gain-
NBPF4-
-
-
-
3Gain-
NBPF6-
-
-
-
3Gain-
NCANp.X1084_splice
Splice_Site
SNP
0.286
2--
NCAPH-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCF4p.S315F
Missense
SNP
0.537
2--
NCK2-
-
-
-
3Gain-
NCKAP1-
-
-
-
1Loss-
NCKAP5p.S1256F
p.R1243K
p.P1238S
p.F1000L
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.681
0.314
0.643
0.721
2--
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCOA1-
-
-
-
1Loss-
NCOA6p.P1923L
Missense
SNP
0.518
2--
NCOR2p.P2169L
p.P2149L
Missense
Missense
SNP
SNP
0.619
0.407
2--
NCR1-
-
-
-
3Gain-
NCR2p.G105E
Missense
SNP
0.367
2--
NCR3p.R173K
Missense
SNP
0.237
2--
NCR3LG1-
-
-
-
1Loss-
NDC80-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDNp.P95S
Missense
SNP
0.642
2--
NDNF-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDST1-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4p.E218K
Missense
SNP
0.963
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
3Gain-
NDUFA4-
-
-
-
1Loss-
NDUFA5p.L90V
Missense
SNP
0.389
2--
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF7-
-
-
-
1Loss-
NDUFAF8-
-
-
-
3Gain-
NDUFS1-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFV2-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NEB-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECTIN1p.P430L
Missense
SNP
0.493
2--
NEDD4-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD9p.D175N
Missense
SNP
0.239
2--
NEFHp.P839T
Missense
SNP
0.415
2--
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL1-
-
-
-
3Gain-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK2p.X371_splice
Splice_Site
SNP
0.600
2--
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NELFEp.P99S
Missense
SNP
0.172
2--
NELL1-
-
-
-
1Loss-
NELL2p.Q129*
Nonsense
SNP
0.276
2--
NEMP2-
-
-
-
1Loss-
NEO1-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU2p.P89L
Missense
SNP
1.000
1Loss-
NEU4-
-
-
-
1Loss-
NEURL1B-
-
-
-
3Gain-
NEURL3p.L122V
p.P106S
Missense
Missense
SNP
SNP
0.369
0.327
3Gain-
NEUROD1-
-
-
-
1Loss-
NEUROD6-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NEUROG2p.M248I
Missense
SNP
1.000
1Loss-
NFATC1-
-
-
-
1Loss-
NFE2L2-
-
-
-
1Loss-
NFE2L3-
-
-
-
1Loss-
NFKB1-
-
-
-
1Loss-
NFU1-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGF-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHEJ1-
-
-
-
1Loss-
NHLH2-
-
-
-
3Gain-
NHLRC3-
-
-
-
1Loss-
NHP2-
-
-
-
3Gain-
NHSL2p.S777F
p.E802K
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
NICN1-
-
-
-
1Loss-
NID2p.G1056R
Missense
SNP
0.432
2--
NIF3L1-
-
-
-
1Loss-
NIFK-
-
-
-
3Gain-
NIPAL1-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
20Amp-
NISCH-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKG7-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-5-
-
-
-
3Gain-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
3Gain-
NLE1p.G340C
Missense
SNP
0.511
2--
NLN-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP11p.E537D
Missense
SNP
0.316
3Gain-
NLRP12-
-
-
-
3Gain-
NLRP13p.H952Y
p.G620R
p.P56L
Missense
Missense
Missense
SNP
SNP
SNP
0.739
0.318
0.645
3Gain-
NLRP14-
-
-
-
1Loss-
NLRP2-
-
-
-
3Gain-
NLRP4p.V992I
Missense
SNP
0.358
3Gain-
NLRP5p.P745Q
Missense
SNP
0.397
3Gain-
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
3Gain-
NLRP8-
-
-
-
3Gain-
NLRP9p.G492E
Missense
SNP
0.362
3Gain-
NMB-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
1Loss-
NMI-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMS-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNMTp.P215S
Missense
SNP
0.449
2--
NOD1-
-
-
-
21Amp-
NOD2-
-
-
-
1Loss-
NOL10-
-
-
-
1Loss-
NOL11-
-
-
-
3Gain-
NOL4-
-
-
-
1Loss-
NOP16-
-
-
-
3Gain-
NOP58-
-
-
-
1Loss-
NOS1p.N639D
Missense
SNP
0.444
2--
NOS2p.A723T
Missense
SNP
0.438
2--
NOSIP-
-
-
-
3Gain-
NOSTRIN-
-
-
-
1Loss-
NOTCH1p.X481_splice
Splice_Site
SNP
1.000
2--
NOTCH2-
-
-
-
3Gain-
NOTCH3p.P2293L
Missense
SNP
0.510
2--
NOTCH4p.S1452F
Missense
SNP
0.310
2--
NOTO-
-
-
-
1Loss-
NOTUM-
-
-
-
3Gain-
NOX5-
-
-
-
3Gain-
NPAP1p.G299E
Missense
SNP
0.576
2--
NPAS2-
-
-
-
3Gain-
NPAS3p.K394*
Nonsense
SNP
0.512
3Gain-
NPAS4p.S249L
Missense
SNP
0.504
2--
NPB-
-
-
-
3Gain-
NPBWR2-
-
-
-
3Gain-
NPC1L1-
-
-
-
1Loss-
NPFFR2p.N300D
p.T302I
Missense
Missense
SNP
SNP
0.500
0.492
2--
NPHP1-
-
-
-
3Gain-
NPHP4p.A983V
Missense
SNP
0.303
2--
NPLOC4-
-
-
-
3Gain-
NPM1-
-
-
-
3Gain-
NPM2-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR1p.P450S
Missense
SNP
0.621
2--
NPRL2-
-
-
-
1Loss-
NPS-
-
-
-
3Gain-
NPSR1-
-
-
-
1Loss-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
3Gain-
NPVF-
-
-
-
1Loss-
NPY-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2E3-
-
-
-
3Gain-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
3Gain-
NR3C1-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRAPp.D292N
Missense
SNP
0.310
2--
NRAS-
-
-
-
3Gain-
NRBP1-
-
-
-
1Loss-
NRBP2p.L284F
Missense
SNP
0.274
3Gain-
NRCAMp.P948L
Missense
MNP
0.304
2--
NREP-
-
-
-
1Loss-
NRG1-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRG4-
-
-
-
3Gain-
NRIP1p.P672S
Missense
SNP
0.446
2--
NRIP3-
-
-
-
1Loss-
NRKp.M666I
Missense
SNP
0.992
NDND-
NRMp.L60F
Missense
SNP
0.314
2--
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRXN1-
-
-
-
1Loss-
NRXN3p.M704I
Missense
SNP
0.405
2--
NSA2-
-
-
-
1Loss-
NSD1p.G2271R
Missense
SNP
0.391
3Gain-
NSG2-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5C1B-
-
-
-
1Loss-
NT5C1B-RDH14-
-
-
-
1Loss-
NT5C3A-
-
-
-
1Loss-
NT5C3B-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5DC4-
-
-
-
3Gain-
NTF4-
-
-
-
3Gain-
NTN5-
-
-
-
3Gain-
NTNG1p.T533P
Missense
SNP
0.379
3Gain-
NTRK3p.G520K
Missense
MNP
0.484
3Gain-
NTSR2-
-
-
-
1Loss-
NUCB1p.R381C
Missense
SNP
0.298
3Gain-
NUCB2-
-
-
-
1Loss-
NUDCD2-
-
-
-
3Gain-
NUDCD3-
-
-
-
1Loss-
NUDT1-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP35-
-
-
-
1Loss-
NUP58p.G539V
Missense
SNP
0.416
2--
NUP62-
-
-
-
3Gain-
NUP85-
-
-
-
3Gain-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
1Loss-
NUPR2-
-
-
-
20Amp-
NUSAP1-
-
-
-
1Loss-
NWD2-
-
-
-
1Loss-
NXF3p.D50N
Missense
SNP
1.000
NDND-
NXPE1p.E280K
Missense
SNP
0.574
2--
NXPH1-
-
-
-
1Loss-
NXPH2-
-
-
-
1Loss-
NYAP2p.E512K
Missense
SNP
1.000
1Loss-
OAZ2-
-
-
-
3Gain-
OBSL1-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCA2p.S92P
Missense
SNP
0.625
2--
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
1Loss-
ODAMp.E174K
Missense
SNP
0.537
2--
ODC1-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3L1-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
1Loss-
OGFOD3-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OLA1-
-
-
-
1Loss-
OLAH-
-
-
-
1Loss-
OLFM3-
-
-
-
3Gain-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2Bp.D688N
Missense
SNP
0.361
2--
OLFML3-
-
-
-
3Gain-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OPLAH-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OPTN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6p.C189I
Missense
MNP
1.000
1Loss-
OR10W1p.S79L
Missense
SNP
0.517
2--
OR10X1p.L189I
Missense
SNP
0.468
2--
OR11G2p.P197L
Missense
SNP
0.528
2--
OR13C3p.G200E
Missense
SNP
0.992
2--
OR13H1p.K264R
Missense
SNP
1.000
NDND-
OR1A2p.S93F
Missense
SNP
0.413
2--
OR2A14p.R121C
Missense
SNP
0.617
2--
OR2AG1p.S93F
Missense
SNP
0.962
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AK2p.S134F
Missense
SNP
0.412
2--
OR2AP1p.S215F
Missense
SNP
0.496
2--
OR2B3p.G152D
p.H56Y
Missense
Missense
SNP
SNP
0.670
0.232
2--
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2J1p.F274L
Missense
SNP
0.676
2--
OR2T1p.Q276*
Nonsense
SNP
0.387
2--
OR2T3p.M123K
Missense
SNP
0.343
2--
OR2T4p.E348K
Missense
SNP
0.638
2--
OR2V1-
-
-
-
3Gain-
OR2V2-
-
-
-
3Gain-
OR2W3p.S267T
Missense
SNP
0.677
2--
OR2Y1-
-
-
-
3Gain-
OR4D5p.P182S
p.S217L
Missense
Missense
SNP
SNP
0.053
0.533
2--
OR4F15-
-
-
-
3Gain-
OR4F4-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4N2p.T242I
Missense
SNP
0.237
2--
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1p.L233F
Missense
SNP
0.961
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-
OR52E2p.F170V
Missense
SNP
0.983
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-
OR5AP2p.G31E
Missense
SNP
0.422
2--
OR5M11p.S92Y
Missense
SNP
0.497
2--
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5V1p.G305R
Missense
SNP
0.620
2--
OR6A2-
-
-
-
1Loss-
OR6B1p.S156F
Missense
SNP
0.393
2--
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6C75p.S240F
Missense
SNP
0.473
2--
OR6K3p.S164F
Missense
SNP
0.469
2--
OR8B2p.M151I
Missense
SNP
0.529
2--
OR8D1p.G233S
Missense
SNP
0.233
2--
OR8H1p.S88F
Missense
SNP
0.440
2--
OR8J1p.L71F
Missense
SNP
0.460
2--
OR8J3p.G41E
Missense
SNP
0.521
2--
OR8K1p.R128C
Missense
SNP
0.490
2--
OR9A2p.K309R
Missense
SNP
0.570
2--
OR9I1p.S167F
Missense
SNP
0.578
2--
ORAI3p.P186F
Missense
MNP
0.487
2--
ORC2-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORMDL1-
-
-
-
1Loss-
OSBP2p.E836K
Missense
SNP
0.450
2--
OSBPL10-
-
-
-
1Loss-
OSBPL3-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSBPL6-
-
-
-
1Loss-
OSCAR-
-
-
-
3Gain-
OSGEPL1-
-
-
-
1Loss-
OSR1-
-
-
-
1Loss-
OST4-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OTOAp.Q589*
Nonsense
SNP
0.467
2--
OTOF-
-
-
-
1Loss-
OTOG-
-
-
-
1Loss-
OTOGLp.F1664L
p.L2316F
Missense
Missense
SNP
SNP
0.485
0.580
2--
OTOL1p.P301S
Missense
SNP
0.435
2--
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTOS-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTX1-
-
-
-
1Loss-
OVCH1p.G1044E
Missense
SNP
0.236
2--
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
3Gain-
OXER1-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXLD1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P3H4-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HA3p.L133F
Missense
SNP
0.352
2--
P4HB-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PABPC3p.P316L
Missense
SNP
0.314
2--
PACSIN3p.A87T
Missense
SNP
0.479
2--
PADI4p.W233*
Nonsense
SNP
0.519
2--
PAIP2-
-
-
-
1Loss-
PAIP2B-
-
-
-
1Loss-
PAK6-
-
-
-
1Loss-
PALMp.P117L
p.E353K
Missense
Missense
SNP
SNP
0.269
0.536
2--
PALMD-
-
-
-
3Gain-
PAM-
-
-
-
1Loss-
PAMR1p.S20L
Missense
SNP
0.185
2--
PANK3-
-
-
-
3Gain-
PAOX-
-
-
-
3Gain-
PAPOLB-
-
-
-
1Loss-
PAPOLG-
-
-
-
1Loss-
PAPPA2p.K1766T
Missense
SNP
0.525
2--
PAPSS1-
-
-
-
1Loss-
PAQR5-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARP10-
-
-
-
3Gain-
PARP14p.S1411F
Missense
SNP
0.383
2--
PARP16-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP6-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PARVAp.P105L
Missense
SNP
1.000
1Loss-
PASD1p.E517K
Missense
SNP
1.000
NDND-
PASK-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAX3-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAX7p.P384L
Missense
SNP
0.648
2--
PAX8-
-
-
-
3Gain-
PAXBP1-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBRM1p.Q1434E
Missense
SNP
0.966
1Loss-
PBXIP1p.P127S
Missense
SNP
0.544
2--
PCARE-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP1-
-
-
-
1Loss-
PCBP3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10p.N118Y
Missense
SNP
0.407
2--
PCDH11Xp.E177K
Missense
SNP
1.000
NDND-
PCDH12-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH18p.F246C
Missense
SNP
0.442
2--
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10p.R4K
Missense
SNP
0.227
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2p.E558K
Missense
SNP
0.283
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6p.P568L
Missense
SNP
0.709
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9p.K870I
Missense
SNP
0.604
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2p.D360N
Missense
SNP
0.362
1Loss-
PCDHB1p.P147S
Missense
SNP
0.540
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11p.P492L
p.R530C
Missense
Missense
SNP
SNP
0.571
0.400
1Loss-
PCDHB12p.E88K
p.V737E
Missense
Missense
SNP
SNP
0.675
0.667
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14p.P252L
Missense
SNP
0.237
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4p.S758F
Missense
SNP
0.451
1Loss-
PCDHB5p.S44F
Missense
SNP
0.533
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8p.E321K
Missense
SNP
0.237
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2p.G63R
Missense
SNP
0.692
1Loss-
PCDHGA3p.S186F
Missense
SNP
0.216
1Loss-
PCDHGA4p.S636F
Missense
SNP
0.700
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5p.P685S
Missense
SNP
0.655
1Loss-
PCGF1-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCK1p.G132K
Missense
MNP
0.566
2--
PCLAF-
-
-
-
3Gain-
PCLOp.R4717K
p.P4562S
p.K1435*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.614
0.448
0.377
2--
PCM1-
-
-
-
1Loss-
PCMTD2-
-
-
-
3Gain-
PCNT-
-
-
-
1Loss-
PCNX3p.P516S
Missense
SNP
0.533
2--
PCP4-
-
-
-
1Loss-
PCSK1-
-
-
-
1Loss-
PCSK6-
-
-
-
3Gain-
PCYOX1-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PCYT1B-
-
-
-
NDNDPHF8--PCYT1B
PCYT2-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD6IPp.L334V
Missense
SNP
1.000
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL3-
-
-
-
3Gain-
PDE10Ap.Q650K
Missense
SNP
0.571
2--
PDE11A-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE1Ap.E531K
Missense
SNP
0.955
1Loss-
PDE1Cp.Q407*
Nonsense
SNP
0.299
1Loss-
PDE3A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE5A-
-
-
-
1Loss-
PDE6Ap.E808*
Nonsense
SNP
0.615
1Loss-
PDE6D-
-
-
-
1Loss-
PDE6G-
-
-
-
3Gain-
PDE6H-
-
-
-
1Loss-
PDE8A-
-
-
-
3Gain-
PDE8B-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFA-
-
-
-
1Loss-
PDGFDp.D361N
Missense
SNP
0.511
2--
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA6-
-
-
-
1Loss-
PDK1-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDLIM7p.P447L
Missense
SNP
0.431
3Gain-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDXK-
-
-
-
1Loss-
PDZD2p.E1294K
Missense
SNP
0.574
2--
PDZD4p.P526L
p.E368K
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
PDZRN3-
-
-
-
1Loss-
PEAK1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PEG3-
-
-
-
3Gain-
PELI1-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PEX11A-
-
-
-
3Gain-
PEX13-
-
-
-
1Loss-
PF4V1p.A30T
Missense
SNP
0.489
2--
PFDN1-
-
-
-
1Loss-
PFDN4p.I67L
Missense
SNP
0.415
2--
PFKFB3-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN3-
-
-
-
3Gain-
PFN4-
-
-
-
1Loss-
PGAM2-
-
-
-
1Loss-
PGAP1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGPEP1L-
-
-
-
3Gain-
PGRp.V611A
Missense
SNP
0.422
2--
PGS1-
-
-
-
3Gain-
PHAX-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF14-
-
-
-
1Loss-
PHF20L1-
-
-
-
3Gain-
PHF23p.G191E
Missense
SNP
0.451
2--
PHF7-
-
-
-
1Loss-
PHF8-
-
-
-
NDNDPHF8--PCYT1B
PHGDH-
-
-
-
3Gain-
PHGR1-
-
-
-
1Loss-
PHKG1-
-
-
-
20Amp-
PHLDA2-
-
-
-
1Loss-
PHLDB1p.E728K
p.L1315R
Missense
Missense
SNP
SNP
0.385
0.557
2--
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF1-
-
-
-
3Gain-
PHTF2-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PHYKPL-
-
-
-
3Gain-
PI4KAp.P273S
Missense
SNP
0.377
2--
PIAS1-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PICALM-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO2p.W936*
Nonsense
SNP
1.000
1Loss-
PIF1-
-
-
-
3Gain-
PIFO-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGF-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIGY-
-
-
-
1Loss-
PIH1D1-
-
-
-
3Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CGp.H909Y
Missense
SNP
0.610
2--
PIK3IP1p.W49L
Missense
SNP
0.454
2--
PIK3R1-
-
-
-
1Loss-
PIK3R4p.L261F
p.D260Y
Missense
Missense
SNP
SNP
0.377
0.390
2--
PIKFYVE-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PITPNC1p.S267F
Missense
SNP
0.500
3Gain-
PITPNM3p.S492F
Missense
SNP
0.469
2--
PITRM1-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL1p.R641Q
Missense
SNP
0.435
2--
PIWIL2-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PJVK-
-
-
-
1Loss-
PKD1L1p.P2526S
Missense
SNP
0.583
1Loss-
PKD1L2p.P189L
Missense
SNP
0.547
2--
PKD2-
-
-
-
1Loss-
PKD2L1p.E667*
Nonsense
SNP
0.379
2--
PKD2L2-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1p.E3665K
p.R1997Q
p.Q716*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.643
0.731
0.638
2--
PKHD1L1p.Q745*
Nonsense
SNP
0.561
2--
PKM-
-
-
-
3Gain-
PKNOX1-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
1Loss-
PLA2G4C-
-
-
-
3Gain-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2R1-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLB1p.A997V
Missense
SNP
0.253
1Loss-
PLBD1-
-
-
-
1Loss-
PLCB1p.E224D
Missense
SNP
0.585
2--
PLCB2-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCD4-
-
-
-
1Loss-
PLCH1p.E1598K
Missense
SNP
0.539
2--
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLD2p.Q900*
Nonsense
SNP
0.476
2--
PLD5p.R379*
Nonsense
SNP
0.557
2--
PLECp.P2764L
p.E2700K
p.I1043F
Missense
Missense
Missense
SNP
SNP
SNP
0.340
0.290
0.556
3Gain-
PLEK-
-
-
-
1Loss-
PLEKHA1p.T360I
Missense
SNP
0.393
2--
PLEKHA3-
-
-
-
1Loss-
PLEKHA4-
-
-
-
3Gain-
PLEKHA5-
-
-
-
0Del-
PLEKHA6p.P575S
Missense
SNP
0.583
2--
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
21Amp-
PLEKHG4Bp.G159E
Missense
SNP
0.542
2--
PLEKHH2-
-
-
-
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLEKHO2-
-
-
-
3Gain-
PLIN1-
-
-
-
3Gain-
PLK2-
-
-
-
1Loss-
PLOD2p.R420C
Missense
SNP
0.465
2--
PLPBP-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPPR4-
-
-
-
3Gain-
PLPPR5-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA4p.G342S
Missense
SNP
0.603
2--
PLXNB1-
-
-
-
1Loss-
PLXNB3p.Q732*
Nonsense
SNP
1.000
NDND-
PMAIP1-
-
-
-
1Loss-
PMEPA1p.P207L
Missense
SNP
0.648
2--
PML-
-
-
-
3Gain-
PMS1-
-
-
-
1Loss-
PMS2-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNKP-
-
-
-
3Gain-
PNLIPp.T440K
Missense
SNP
0.550
2--
PNMA2-
-
-
-
1Loss-
PNO1-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPT1-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
POFUT2-
-
-
-
1Loss-
POLA1-
-
-
-
NDNDDCBLD2--POLA1
POLD1-
-
-
-
3Gain-
POLD2-
-
-
-
1Loss-
POLE2p.H214L
Missense
SNP
0.597
2--
POLE4-
-
-
-
1Loss-
POLG-
-
-
-
3Gain-
POLG2-
-
-
-
3Gain-
POLIp.P479S
Missense
SNP
0.583
1Loss-
POLK-
-
-
-
1Loss-
POLM-
-
-
-
1Loss-
POLR1Ap.H1452Y
Missense
SNP
0.679
1Loss-
POLR1B-
-
-
-
3Gain-
POLR2D-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POM121L12p.G122R
Missense
SNP
0.678
1Loss-
POMC-
-
-
-
1Loss-
POMGNT1p.G641R
Missense
SNP
0.600
2--
POMGNT2-
-
-
-
1Loss-
POMP-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POTEC-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU3F3-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPCDC-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPFIA2p.S833L
Missense
SNP
0.470
2--
PPFIA3-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIA-
-
-
-
1Loss-
PPIAL4A-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPIG-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1B-
-
-
-
1Loss-
PPM1D-
-
-
-
3Gain-
PPM1Ep.W620*
Nonsense
SNP
0.500
2--
PPM1G-
-
-
-
1Loss-
PPM1J-
-
-
-
3Gain-
PPM1K-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPP1CB-
-
-
-
1Loss-
PPP1CCp.D92Y
Missense
SNP
0.523
2--
PPP1R12C-
-
-
-
3Gain-
PPP1R14D-
-
-
-
1Loss-
PPP1R15A-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP1R17-
-
-
-
1Loss-
PPP1R1C-
-
-
-
1Loss-
PPP1R21-
-
-
-
1Loss-
PPP1R27-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R3Ap.E820K
Missense
SNP
0.354
2--
PPP1R3B-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP1R9Bp.E412*
Nonsense
SNP
0.411
2--
PPP2CA-
-
-
-
1Loss-
PPP2CBp.R135Q
Missense
SNP
1.000
1Loss-
PPP2R1A-
-
-
-
3Gain-
PPP2R2A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R2D-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R1-
-
-
-
1Loss-
PPP4R1-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP4R3B-
-
-
-
1Loss-
PPP4R3CPp.R708K
Missense
SNP
0.990
NDND-
PPP6R1-
-
-
-
3Gain-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC3-
-
-
-
1Loss-
PRADC1-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAMEF14p.G253R
Missense
SNP
0.573
2--
PRAP1-
-
-
-
3Gain-
PRB1p.G109E
Missense
SNP
0.958
2--
PRC1-
-
-
-
3Gain-
PRCD-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PRDM2p.T1542I
Missense
SNP
0.629
2--
PRDM5-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9p.Q7*
Nonsense
SNP
0.450
2--
PREB-
-
-
-
1Loss-
PRELID1-
-
-
-
3Gain-
PRELID2-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PREPL-
-
-
-
1Loss-
PREX2p.G1091E
Missense
SNP
0.574
2--
PRF1p.D498N
p.P60L
Missense
Missense
SNP
SNP
0.472
0.448
2--
PRG4p.S184F
Missense
SNP
0.582
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRKACGp.E92K
Missense
SNP
0.996
2--
PRKAG3-
-
-
-
1Loss-
PRKAR1A-
-
-
-
3Gain-
PRKAR1B-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCA-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCE-
-
-
-
1Loss-
PRKCG-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKD1p.P405L
Missense
MNP
0.548
2--
PRKD3-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRA-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRLHRp.P25S
Missense
SNP
0.598
2--
PRMT1p.S49F
Missense
SNP
0.305
3Gain-
PRMT2-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT6-
-
-
-
3Gain-
PROB1p.S124F
Missense
SNP
0.349
1Loss-
PROC-
-
-
-
3Gain-
PROK1-
-
-
-
3Gain-
PROK2-
-
-
-
1Loss-
PROKR1-
-
-
-
1Loss-
PROM2p.L490F
Missense
SNP
0.576
3Gain-
PROP1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF31-
-
-
-
3Gain-
PRPF38B-
-
-
-
3Gain-
PRPF40A-
-
-
-
1Loss-
PRPF6-
-
-
-
3Gain-
PRPS1L1-
-
-
-
1Loss-
PRPSAP1-
-
-
-
1Loss-
PRR12-
-
-
-
3Gain-
PRR14Lp.F413C
Missense
SNP
0.569
2--
PRR15-
-
-
-
13AmpYME1L1--PRR15
PRR16-
-
-
-
1Loss-
PRR23Ap.P12S
Missense
SNP
0.542
2--
PRR23Cp.E249K
p.P45L
Missense
Missense
SNP
SNP
0.407
0.529
2--
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR29p.P220L
Missense
SNP
0.495
3Gain-
PRR30-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR7-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRG2-
-
-
-
3Gain-
PRRG4-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS33p.P272L
Missense
SNP
0.419
2--
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS56p.Q80H;p.D81N
Missense
MNP
1.000
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PSAPL1p.D455N
Missense
SNP
0.705
2--
PSCA-
-
-
-
3Gain-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSD4-
-
-
-
3Gain-
PSEN1p.P88S
Missense
SNP
0.394
2--
PSEN2p.D431N
Missense
SNP
0.463
2--
PSG7p.S286F
Missense
SNP
0.548
2--
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
1Loss-
PSMA4-
-
-
-
3Gain-
PSMA5-
-
-
-
3Gain-
PSMB8p.P20S
Missense
SNP
0.270
2--
PSMC5-
-
-
-
3Gain-
PSMD1-
-
-
-
1Loss-
PSMD12-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD14p.S35F
Missense
SNP
1.000
1Loss-
PSMD6-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSMG1-
-
-
-
1Loss-
PSMG2-
-
-
-
1Loss-
PSMG3-
-
-
-
1Loss-
PSPH-
-
-
-
20Amp-
PSRC1-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PSTPIP2-
-
-
-
1Loss-
PTBP2-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCD3-
-
-
-
1Loss-
PTCHD3p.P730S
Missense
SNP
0.852
12Amp-
PTDSS2-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGFRN-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTH2-
-
-
-
3Gain-
PTH2R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTK7p.R972S
Missense
SNP
0.460
2--
PTMA-
-
-
-
1Loss-
PTOV1p.X312_splice
Splice_Site
SNP
0.300
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN22-
-
-
-
3Gain-
PTPN23-
-
-
-
1Loss-
PTPN4p.P397L
Missense
SNP
0.335
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN7p.G184R
Missense
SNP
0.298
2--
PTPN9-
-
-
-
3Gain-
PTPRCp.S418L
Missense
SNP
0.609
3Gain-
PTPRE-
-
-
-
3Gain-
PTPRFp.P39A
p.S607F
Missense
Missense
SNP
SNP
0.347
0.636
2--
PTPRG-
-
-
-
1Loss-
PTPRH-
-
-
-
3Gain-
PTPRM-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRO-
-
-
-
1Loss-
PTPRQp.P881Q
Missense
SNP
0.451
2--
PTPRSp.D1058N
Missense
SNP
0.443
2--
PTRHD1-
-
-
-
1Loss-
PTTG1-
-
-
-
3Gain-
PTTG1IP-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PUM2-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS10-
-
-
-
1Loss-
PVALEF-
-
-
-
3Gain-
PVRp.X27_splice
Splice_Site
SNP
0.234
2--
PWP2-
-
-
-
1Loss-
PWWP2A-
-
-
-
3Gain-
PWWP2B-
-
-
-
3Gain-
PXDC1p.P178L
Missense
SNP
0.311
2--
PXDN-
-
-
-
1Loss-
PXDNLp.D275N
Missense
SNP
0.475
2--
PXK-
-
-
-
1Loss-
PYCR1-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYROXD1-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QPCTp.P255S
Missense
SNP
0.247
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QRICH2-
-
-
-
1Loss-
QSER1p.V636D
Missense
SNP
1.000
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDM1-
-
-
-
1Loss-
RAB10-
-
-
-
1Loss-
RAB11A-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP2p.P324L
Missense
SNP
0.269
2--
RAB11FIP5-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
7Amp-
RAB1A-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB24-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB27B-
-
-
-
1Loss-
RAB31-
-
-
-
1Loss-
RAB33Ap.T53N
Missense
SNP
0.995
NDND-
RAB37-
-
-
-
3Gain-
RAB3Cp.S132F
Missense
SNP
0.655
1Loss-
RAB3GAP1-
-
-
-
1Loss-
RAB40B-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB6C-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABL2A-
-
-
-
3Gain-
RAC1-
-
-
-
1Loss-
RAC2p.R68W
Missense
SNP
0.415
2--
RAC3-
-
-
-
3Gain-
RACK1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21p.L248F
Missense
SNP
0.380
2--
RAD50p.L1060*
Nonsense
SNP
0.211
1Loss-
RAD51-
-
-
-
1Loss-
RAD51AP2-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RADIL-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAG1p.S353F
Missense
SNP
0.431
2--
RALA-
-
-
-
1Loss-
RALBp.F83Y
Missense
SNP
0.293
3Gain-
RALBP1-
-
-
-
1Loss-
RALGAPA2p.P878S
Missense
SNP
0.662
2--
RALYLp.E257K
Missense
SNP
0.344
2--
RAMAC-
-
-
-
3Gain-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
1Loss-
RANBP10p.P496S
Missense
SNP
0.456
2--
RANBP17-
-
-
-
3Gain-
RANBP2-
-
-
-
3Gain-
RANBP3Lp.Q257H
Missense
SNP
0.710
2--
RAP1A-
-
-
-
3Gain-
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPGEF4-
-
-
-
1Loss-
RAPGEF5-
-
-
-
1Loss-
RAPGEF6-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARAp.G97D
p.P439S
Missense
Missense
SNP
SNP
0.461
0.467
2--
RARB-
-
-
-
1Loss-
RARSp.Q556*
Nonsense
SNP
0.359
3Gain-
RASA1-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGEF1C-
-
-
-
3Gain-
RASGRF1-
-
-
-
3Gain-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP3-
-
-
-
1Loss-
RASIP1-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RASSF9p.G304R
Missense
SNP
0.490
2--
RAX-
-
-
-
1Loss-
RB1p.Q702*
Nonsense
SNP
1.000
1Loss-
RBAK-
-
-
-
1Loss-
RBAK-RBAKDN-
-
-
-
1Loss-
RBBP8NLp.D511N
Missense
SNP
0.683
2--
RBFA-
-
-
-
1Loss-
RBFOX3-
-
-
-
3Gain-
RBKS-
-
-
-
1Loss-
RBL1-
-
-
-
1Loss-
RBM10p.P545S
Missense
SNP
0.992
NDND-
RBM11-
-
-
-
1Loss-
RBM15-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28p.Q612R
Missense
SNP
0.270
2--
RBM42p.P277S
Missense
SNP
0.532
2--
RBM43-
-
-
-
1Loss-
RBM44p.G448R
Missense
SNP
0.988
1Loss-
RBM45-
-
-
-
1Loss-
RBM46p.R127*
Nonsense
SNP
0.486
2--
RBM47p.R137C
Missense
SNP
0.331
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS1-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL2p.G303R
Missense
SNP
1.000
1Loss-
RBMXL3p.P245S
Missense
SNP
1.000
NDND-
RBPMS-
-
-
-
1Loss-
RBPMS2-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RCAN1-
-
-
-
1Loss-
RCAN2p.P163S
Missense
SNP
0.300
2--
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCCD1-
-
-
-
3Gain-
RCN1-
-
-
-
1Loss-
RCN2-
-
-
-
3Gain-
RCN3-
-
-
-
3Gain-
RDH13-
-
-
-
3Gain-
RDH14-
-
-
-
1Loss-
REC114-
-
-
-
3Gain-
RECQL-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
RECQL5-
-
-
-
3Gain-
REEP1-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REG1A-
-
-
-
1Loss-
REG1Bp.X107_splice
Splice_Site
SNP
0.576
1Loss-
REG3A-
-
-
-
1Loss-
REG3G-
-
-
-
1Loss-
REG4-
-
-
-
3Gain-
REL-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELNp.G2315E
p.W1368*
p.E331K
Missense
Nonsense
Missense
SNP
SNP
SNP
0.487
0.377
0.549
2--
REPS2p.P197S
Missense
SNP
0.992
NDND-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
RETp.W1099*
Nonsense
SNP
0.542
2--
RETREG2-
-
-
-
1Loss-
RETSAT-
-
-
-
3Gain-
REV1-
-
-
-
3Gain-
REV3Lp.S2680L
p.Y796*
Missense
Nonsense
SNP
SNP
0.422
0.425
2--
RFC1-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFNG-
-
-
-
3Gain-
RFPL1p.R148Q
Missense
SNP
0.559
2--
RFPL4A-
-
-
-
3Gain-
RFPL4AL1-
-
-
-
3Gain-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFX6p.G137R
Missense
SNP
0.265
2--
RFX7-
-
-
-
3Gain-
RFX8-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGAG4p.R566Q
Missense
SNP
1.000
NDND-
RGCC-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL2p.P223L
Missense
SNP
0.652
2--
RGMA-
-
-
-
3Gain-
RGMB-
-
-
-
1Loss-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS9-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHBDF2-
-
-
-
3Gain-
RHBDL3p.L227V
Missense
SNP
0.514
2--
RHCG-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOB-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOC-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOQ-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIF1-
-
-
-
1Loss-
RIMKLAp.P320L
Missense
SNP
0.507
2--
RIMS1p.G4E
Missense
SNP
0.439
2--
RIOK2-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
3Gain-
RMDN2-
-
-
-
1Loss-
RMDN3-
-
-
-
1Loss-
RMND5A-
-
-
-
1Loss-
RMND5B-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--HNRNPA1
RNASEH1-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF103-
-
-
-
1Loss-
RNF103-CHMP3-
-
-
-
1Loss-
RNF111-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF130-
-
-
-
3Gain-
RNF138-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF144A-
-
-
-
1Loss-
RNF145-
-
-
-
3Gain-
RNF149-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF157-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF180p.C90F
Missense
SNP
0.593
1Loss-
RNF181-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF213p.P2511L
Missense
SNP
0.498
3Gain-
RNF216-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF40p.F187L
Missense
SNP
0.444
2--
RNF44-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
RNPC3-
-
-
-
3Gain-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK2-
-
-
-
1Loss-
RORA-
-
-
-
1Loss-
ROS1p.T1553N
Missense
SNP
0.429
2--
RP1p.P1795Q
p.S797N
Missense
Missense
SNP
SNP
0.434
0.298
2--
RP11-240B13.2p.G682E
p.X349_splice
p.P270S
Missense
Splice_Site
Missense
SNP
SNP
SNP
0.238
0.395
0.280
NDND-
RP11-457D20.2p.L51F
Missense
SNP
0.549
NDND-
RP1L1p.P1672S
Missense
SNP
1.000
1Loss-
RP5-994D16.11p.G117E
Missense
SNP
0.321
NDND-
RP9-
-
-
-
1Loss-
RPA3-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPAP2-
-
-
-
3Gain-
RPE-
-
-
-
1Loss-
RPGRIP1Lp.S886L
Missense
SNP
0.386
2--
RPIA-
-
-
-
1Loss-
RPL13A-
-
-
-
3Gain-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18-
-
-
-
3Gain-
RPL26L1-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
3Gain-
RPL29-
-
-
-
1Loss-
RPL31-
-
-
-
3Gain-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL37A-
-
-
-
1Loss-
RPL38-
-
-
-
3Gain-
RPL4-
-
-
-
3Gain-
RPL5-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPL9-
-
-
-
1Loss-
RPLP1-
-
-
-
3Gain-
RPLP2-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP25-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPP40p.M142I
Missense
SNP
0.759
2--
RPRD1A-
-
-
-
1Loss-
RPRM-
-
-
-
1Loss-
RPS11-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS17-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS27L-
-
-
-
3Gain-
RPS6KA4p.P289L
Missense
SNP
0.520
2--
RPS6KB1-
-
-
-
3Gain-
RPS7-
-
-
-
1Loss-
RPS9-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPTORp.T269I
Missense
SNP
0.454
3Gain-
RPUSD2-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRAS-
-
-
-
3Gain-
RRAS2-
-
-
-
1Loss-
RREB1p.P1003L
Missense
SNP
0.654
2--
RRH-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRM2-
-
-
-
1Loss-
RRP1-
-
-
-
1Loss-
RRP1B-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RSAD2-
-
-
-
1Loss-
RSBN1-
-
-
-
3Gain-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
1Loss-
RSPH10Bp.E785K
Missense
SNP
0.291
1Loss-
RSPH10B2-
-
-
-
1Loss-
RSPRY1p.F494C
Missense
SNP
0.483
2--
RSU1-
-
-
-
1Loss-
RTCA-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
1Loss-
RTKN-
-
-
-
1Loss-
RTL1p.A543V
Missense
SNP
0.420
2--
RTN3p.L72F
Missense
SNP
0.536
2--
RTN4p.P982S
Missense
SNP
0.566
1Loss-
RTN4Rp.P123S
Missense
SNP
0.293
2--
RTP3-
-
-
-
1Loss-
RTP4p.P135S
Missense
SNP
0.537
2--
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNp.P903F
p.R140W
Missense
Missense
MNP
SNP
0.500
0.528
2--
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
3Gain-
RUFY4-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUNX2p.T198I
p.P466L
Missense
Missense
SNP
SNP
0.675
0.430
2--
RUVBL2-
-
-
-
3Gain-
RWDD2B-
-
-
-
1Loss-
RWDD3-
-
-
-
3Gain-
RXFP2-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYR1p.S257F
Missense
SNP
0.500
2--
RYR2p.E1648K
p.R3495Q
p.T4027M
Missense
Missense
Missense
SNP
SNP
SNP
0.451
0.356
0.543
2--
RYR3p.R723Q
p.P1599S
p.E2533K
Missense
Missense
Missense
SNP
SNP
SNP
0.630
0.430
0.167
2--
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100B-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR1-
-
-
-
3Gain-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACSp.P536L
Missense
MNP
0.411
2--
SAG-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL2p.E760K
Missense
SNP
0.525
2--
SALL3p.E927K
Missense
SNP
0.581
1Loss-
SAMD10-
-
-
-
3Gain-
SAMD9Lp.S923F
Missense
SNP
0.442
2--
SAP130p.P780S
Missense
SNP
0.306
3Gain-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARS-
-
-
-
3Gain-
SASS6-
-
-
-
3Gain-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAXO2-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBK1p.G398M
Missense
MNP
0.507
2--
SBK2-
-
-
-
3Gain-
SBK3-
-
-
-
3Gain-
SBSNp.G323E
Missense
SNP
0.540
2--
SC5Dp.R74C
Missense
SNP
0.175
2--
SCAF1p.S239F
Missense
SNP
0.370
3Gain-
SCAF4-
-
-
-
1Loss-
SCAIp.S276L
Missense
SNP
0.198
2--
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
3Gain-
SCAMP5-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCAPER-
-
-
-
3Gain-
SCARA3p.S168F
Missense
SNP
0.991
1Loss-
SCARA5-
-
-
-
1Loss-
SCART1-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB3A1-
-
-
-
3Gain-
SCGB3A2-
-
-
-
1Loss-
SCGNp.E101K
Missense
SNP
0.760
2--
SCIN-
-
-
-
1Loss-
SCLT1p.E260Q
Missense
SNP
0.542
2--
SCLY-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1A-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN4Ap.P936L
Missense
SNP
0.462
3Gain-
SCN5A-
-
-
-
1Loss-
SCN7Ap.V720I
Missense
SNP
1.000
1Loss-
SCN8Ap.A1809Qfs*29
Frame_Shift_Del
DEL
0.399
2--
SCN9A-
-
-
-
1Loss-
SCRIB-
-
-
-
3Gain-
SCRN1-
-
-
-
13Amp-
SCRN3-
-
-
-
1Loss-
SCRT1-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCTR-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SDC1-
-
-
-
1Loss-
SDK1-
-
-
-
1Loss-
SDK2-
-
-
-
3Gain-
SDSp.R51K
Missense
SNP
0.222
2--
SEC11A-
-
-
-
3Gain-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC22B-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31Bp.P1028S
p.P380S
Missense
Missense
SNP
SNP
0.429
0.644
2--
SEC61A2p.S305F
Missense
SNP
0.713
1Loss-
SEC61G-
-
-
-
1Loss-
SECISBP2L-
-
-
-
1Loss-
SECTM1-
-
-
-
3Gain-
SEH1L-
-
-
-
1Loss-
SEL1Lp.R319C
Missense
SNP
0.478
2--
SELENOI-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOS-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3Ep.X486_splice
p.P52S
Splice_Site
Missense
SNP
SNP
0.625
0.486
2--
SEMA3F-
-
-
-
1Loss-
SEMA3Gp.G362E
Missense
SNP
0.983
1Loss-
SEMA4B-
-
-
-
3Gain-
SEMA4C-
-
-
-
3Gain-
SEMA4F-
-
-
-
1Loss-
SEMA4Gp.X215_splice
Splice_Site
SNP
0.308
2--
SEMA5Bp.R872K
Missense
SNP
0.565
2--
SEMA6A-
-
-
-
1Loss-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
3Gain-
SENP8-
-
-
-
3Gain-
SEPHS1-
-
-
-
1Loss-
SEPT1p.E242K
Missense
SNP
0.469
2--
SEPT10-
-
-
-
3Gain-
SEPT14-
-
-
-
13Amp-
SEPT2-
-
-
-
1Loss-
SEPT3p.P31L
Missense
SNP
0.543
2--
SEPT7-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SEPT9-
-
-
-
3Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3p.G331E
Missense
SNP
0.463
1Loss-
SERPING1p.P114S
Missense
SNP
0.441
2--
SERPINI1p.R362K
Missense
SNP
0.270
2--
SERTAD2-
-
-
-
1Loss-
SERTM1-
-
-
-
1Loss-
SESTD1-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD1Bp.S534F
Missense
SNP
0.441
2--
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6Lp.T274I
Missense
SNP
0.453
2--
SEZ6L2p.R335Q
Missense
SNP
0.516
2--
SF3B1-
-
-
-
1Loss-
SF3B6-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFMBT2p.R756Q
Missense
SNP
0.262
1Loss-
SFRP4-
-
-
-
1Loss-
SFTPB-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SFXN1-
-
-
-
3Gain-
SFXN5-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSH-
-
-
-
3Gain-
SGTB-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH2D6-
-
-
-
3Gain-
SH2D7-
-
-
-
3Gain-
SH3BGR-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3GL3-
-
-
-
3Gain-
SH3KBP1p.G80E
Missense
SNP
1.000
NDND-
SH3PXD2B-
-
-
-
3Gain-
SH3RF2-
-
-
-
1Loss-
SH3RF3-
-
-
-
3Gain-
SH3TC2-
-
-
-
1Loss-
SH3YL1-
-
-
-
1Loss-
SHANK1p.G1955E
p.E1841K
p.P932S
Missense
Missense
Missense
SNP
SNP
SNP
0.224
0.291
0.300
3Gain-
SHARPIN-
-
-
-
3Gain-
SHBGp.S251F
Missense
SNP
0.551
2--
SHC4p.X495_splice
Splice_Site
SNP
1.000
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA7-
-
-
-
3Gain-
SHISA9p.S92L
Missense
SNP
0.459
2--
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC1p.D797N
Missense
SNP
0.720
2--
SIGLEC10-
-
-
-
3Gain-
SIGLEC11-
-
-
-
3Gain-
SIGLEC12-
-
-
-
3Gain-
SIGLEC14-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIGLEC5-
-
-
-
3Gain-
SIGLEC6p.G154E
Missense
SNP
0.357
3Gain-
SIGLEC7-
-
-
-
3Gain-
SIGLEC8p.A371T
p.G184E
Missense
Missense
SNP
SNP
0.243
0.296
3Gain-
SIGLEC9-
-
-
-
3Gain-
SIGLECL1-
-
-
-
3Gain-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIKE1-
-
-
-
3Gain-
SIL1-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIMC1-
-
-
-
3Gain-
SIN3A-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIRT7-
-
-
-
3Gain-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKAP2-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKOR1-
-
-
-
3Gain-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SLA-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLAMF8p.G91E
Missense
SNP
0.589
2--
SLC10A2-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A3p.R145C
Missense
SNP
0.395
2--
SLC12A5p.D897N
Missense
SNP
0.442
2--
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1p.X473_splice
Splice_Site
SNP
1.000
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A1-
-
-
-
3Gain-
SLC16A14-
-
-
-
1Loss-
SLC16A3-
-
-
-
3Gain-
SLC16A4-
-
-
-
3Gain-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A7p.L241F
Missense
SNP
0.406
2--
SLC16A9p.S19F
Missense
SNP
0.489
2--
SLC17A6-
-
-
-
1Loss-
SLC17A7-
-
-
-
3Gain-
SLC18A1-
-
-
-
1Loss-
SLC19A1-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC1A4-
-
-
-
1Loss-
SLC20A1-
-
-
-
3Gain-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15-
-
-
-
3Gain-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A3p.L395F
Missense
SNP
0.679
2--
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A6p.G301K
Missense
MNP
0.429
2--
SLC23A1-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC24A1-
-
-
-
3Gain-
SLC24A5-
-
-
-
1Loss-
SLC25A10-
-
-
-
3Gain-
SLC25A12-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A16p.L225F
Missense
SNP
0.459
2--
SLC25A19-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A24-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A52p.T299A
Missense
SNP
0.330
1Loss-
SLC26A10p.L15V
Missense
SNP
0.533
2--
SLC26A11-
-
-
-
3Gain-
SLC26A2-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC27A2-
-
-
-
1Loss-
SLC27A4p.L229F
Missense
SNP
1.000
2--
SLC27A5-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
3Gain-
SLC28A2-
-
-
-
1Loss-
SLC29A4-
-
-
-
1Loss-
SLC2A10p.L79F
Missense
SNP
0.419
2--
SLC2A2p.E209K
Missense
SNP
0.473
2--
SLC2A4RG-
-
-
-
3Gain-
SLC2A7p.S34*
Nonsense
SNP
0.330
2--
SLC30A3-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A6-
-
-
-
1Loss-
SLC30A7-
-
-
-
3Gain-
SLC30A8p.R331W
Missense
SNP
0.438
2--
SLC30A9-
-
-
-
1Loss-
SLC32A1p.E524K
Missense
SNP
0.565
2--
SLC34A1-
-
-
-
3Gain-
SLC35A3-
-
-
-
3Gain-
SLC35A4-
-
-
-
1Loss-
SLC35F5-
-
-
-
3Gain-
SLC35F6-
-
-
-
1Loss-
SLC35G4-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A1p.T370P
Missense
SNP
0.432
1Loss-
SLC38A10p.G81N
Missense
MNP
0.413
3Gain-
SLC38A11-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A4p.L519F
Missense
SNP
0.521
2--
SLC38A7p.R344L
Missense
SNP
0.548
2--
SLC38A9-
-
-
-
1Loss-
SLC39A10-
-
-
-
1Loss-
SLC39A11-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC39A9p.S128F
Missense
SNP
0.475
2--
SLC3A1-
-
-
-
1Loss-
SLC40A1-
-
-
-
1Loss-
SLC44A1p.X224_splice
Splice_Site
SNP
0.960
2--
SLC44A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC4A10-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A5-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC51B-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC5A12-
-
-
-
1Loss-
SLC5A2p.W172*
Nonsense
SNP
0.462
2--
SLC5A3-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC5A7p.S568F
Missense
SNP
0.667
3Gain-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A15p.T616A
Missense
SNP
0.488
2--
SLC6A16-
-
-
-
3Gain-
SLC6A17-
-
-
-
3Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A6p.S253F
Missense
SNP
0.974
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC6A9p.P34S
Missense
SNP
0.309
2--
SLC7A1-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A4p.P453S
Missense
SNP
0.554
2--
SLC7A9p.Q27*
Nonsense
SNP
0.548
2--
SLC8A1-
-
-
-
1Loss-
SLC8A3p.E496K
Missense
SNP
0.557
2--
SLC9A1-
-
-
-
1Loss-
SLC9A2-
-
-
-
3Gain-
SLC9A3R1-
-
-
-
3Gain-
SLC9A3R2p.D286N
Missense
SNP
0.449
2--
SLC9A4-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLCO3A1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLIT1p.S527F
p.P325L
Missense
Missense
SNP
SNP
0.620
0.592
2--
SLIT2-
-
-
-
0Del-
SLIT3-
-
-
-
3Gain-
SLITRK1-
-
-
-
1Loss-
SLITRK5p.G272E
Missense
SNP
0.455
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLTM-
-
-
-
3Gain-
SLU7-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
3Gain-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
3Gain-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMARCD2-
-
-
-
3Gain-
SMC6p.R725G
Missense
SNP
0.467
1Loss-
SMCHD1-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMG1p.P1833S
Missense
SNP
0.250
2--
SMG6p.E164*
p.D111N
p.P69S
Nonsense
Missense
Missense
SNP
SNP
SNP
0.472
0.372
0.423
2--
SMG7-
-
-
-
3Gain-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM17-
-
-
-
3Gain-
SMIM18-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM21p.D72N
Missense
SNP
0.436
1Loss-
SMIM23-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM5-
-
-
-
3Gain-
SMIM6p.G23R
Missense
SNP
0.412
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMOC1p.X176_splice
Splice_Site
SNP
0.605
2--
SMOXp.P88S
p.M436I
Missense
Missense
SNP
SNP
0.577
0.526
2--
SMPD1-
-
-
-
1Loss-
SMPDL3Bp.G312K
Missense
MNP
0.341
2--
SMTNL2p.G209E
Missense
SNP
0.565
2--
SMURF2-
-
-
-
3Gain-
SMYD1-
-
-
-
1Loss-
SMYD4p.F751Y
Missense
SNP
0.581
2--
SMYD5-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAPC5-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNCAIPp.E600K
Missense
SNP
0.643
1Loss-
SNCB-
-
-
-
3Gain-
SNED1-
-
-
-
1Loss-
SNORC-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP200-
-
-
-
3Gain-
SNRNP27-
-
-
-
1Loss-
SNRNP70-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPG-
-
-
-
1Loss-
SNRPNp.G107S
Missense
SNP
0.438
2--
SNTG2-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNUPN-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
1Loss-
SNX13p.S111F
Missense
SNP
0.278
1Loss-
SNX17-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX22-
-
-
-
3Gain-
SNX24-
-
-
-
1Loss-
SNX33p.S146F
Missense
SNP
0.487
3Gain-
SNX7-
-
-
-
3Gain-
SNX8-
-
-
-
1Loss-
SOAT1p.S369F
Missense
SNP
0.580
2--
SOCS3p.S183C
Missense
SNP
0.176
3Gain-
SOCS5-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SOGA3p.K548R
Missense
SNP
0.309
2--
SOHLH2-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS2p.S874F
p.R531C
Missense
Missense
SNP
SNP
0.571
0.599
2--
SORBS3-
-
-
-
1Loss-
SORCS3p.R418*
Nonsense
SNP
0.705
2--
SORD-
-
-
-
1Loss-
SORT1-
-
-
-
3Gain-
SOS1-
-
-
-
1Loss-
SOSTDC1-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOWAHBp.P438S
Missense
SNP
0.497
2--
SOWAHC-
-
-
-
3Gain-
SOX1-
-
-
-
1Loss-
SOX11-
-
-
-
1Loss-
SOX17p.S225F
Missense
SNP
0.508
2--
SOX18-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
3Gain-
SOX5-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SOX9-
-
-
-
3Gain-
SP1p.G569E
Missense
SNP
0.394
2--
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP3-
-
-
-
1Loss-
SP4-
-
-
-
1Loss-
SP5-
-
-
-
1Loss-
SP8-
-
-
-
1Loss-
SP9-
-
-
-
1Loss-
SPACA4-
-
-
-
3Gain-
SPACA6-
-
-
-
3Gain-
SPACA7-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG17-
-
-
-
3Gain-
SPAG6p.P55S
Missense
SNP
0.264
1Loss-
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPAST-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13p.C1044G
Missense
SNP
0.538
2--
SPATA2p.P374S
Missense
SNP
0.429
2--
SPATA24-
-
-
-
1Loss-
SPATA3p.N90Y
Missense
SNP
1.000
1Loss-
SPATA31A3-
-
-
-
3Gain-
SPATA31A7-
-
-
-
3Gain-
SPATA48-
-
-
-
1Loss-
SPATA5-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA8-
-
-
-
3Gain-
SPATA9-
-
-
-
1Loss-
SPATC1p.P319S
Missense
SNP
0.444
3Gain-
SPATC1L-
-
-
-
1Loss-
SPATS2L-
-
-
-
1Loss-
SPC25-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDL1-
-
-
-
3Gain-
SPDYA-
-
-
-
1Loss-
SPDYCp.G45S
p.G208S
Missense
Missense
SNP
SNP
0.422
0.481
2--
SPEF2p.P584L
Missense
SNP
0.500
2--
SPEG-
-
-
-
1Loss-
SPENp.P1063L
Missense
SNP
0.723
2--
SPERT-
-
-
-
1Loss-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
3Gain-
SPHK1-
-
-
-
1Loss-
SPHK2-
-
-
-
3Gain-
SPHKAPp.Q539*
Nonsense
SNP
1.000
1Loss-
SPIB-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13p.E80G
Missense
SNP
0.111
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5p.P1091S
Missense
SNP
0.219
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPIRE1-
-
-
-
1Loss-
SPNS1p.S301F
Missense
SNP
0.452
2--
SPOCD1p.E726K
Missense
SNP
0.442
2--
SPOCK1-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPOPL-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPR-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRED2-
-
-
-
1Loss-
SPRN-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPTA1p.S333F
Missense
SNP
0.380
2--
SPTBp.S1477C
Missense
SNP
0.400
2--
SPTBN1-
-
-
-
1Loss-
SPTBN4p.H150Y
Missense
SNP
0.437
2--
SPTBN5-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SPX-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SQRDLp.P423L
Missense
SNP
1.000
NDND-
SQSTM1-
-
-
-
3Gain-
SRA1-
-
-
-
1Loss-
SRBD1-
-
-
-
1Loss-
SRD5A2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP2p.P988L
Missense
SNP
0.645
2--
SRGAP2C-
-
-
-
3Gain-
SRGAP3-
-
-
-
1Loss-
SRL-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP68-
-
-
-
3GainUBE2O--SRP68
SRRM2p.P1733S
Missense
SNP
0.418
2--
SRSF2-
-
-
-
3Gain-
SRSF7-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSB-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSC5Dp.P134L
Missense
SNP
0.400
3Gain-
SSMEM1p.E230K
Missense
SNP
0.320
2--
SSTR2-
-
-
-
3Gain-
SSTR3p.G314D
Missense
SNP
0.636
2--
SSU72P2-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
ST18p.E280K
Missense
SNP
0.461
2--
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL5-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GAL2-
-
-
-
3Gain-
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC5p.N228I
Missense
SNP
0.630
2--
ST7p.H280Y
Missense
SNP
0.587
2--
ST7L-
-
-
-
3Gain-
ST8SIA1-
-
-
-
1Loss-
ST8SIA2-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAB1p.L1057P
Missense
SNP
1.000
1Loss-
STAB2p.G1256R
Missense
SNP
0.438
2--
STAC-
-
-
-
1Loss-
STAG3p.P431L
Missense
SNP
0.303
2--
STAM-
-
-
-
1Loss-
STAM2p.P103S
Missense
SNP
1.000
1Loss-
STAMBP-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD3NL-
-
-
-
1Loss-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
3Gain-
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
3Gain-
STARD9-
-
-
-
1Loss-
STAT1p.P553L
Missense
SNP
1.000
1Loss-
STAT3-
-
-
-
1Loss-
STAT4-
-
-
-
1Loss-
STAT5A-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STC2-
-
-
-
3Gain-
STEAP1B-
-
-
-
1Loss-
STEAP3-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK10-
-
-
-
3Gain-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
1Loss-
STK17B-
-
-
-
1Loss-
STK19p.V81E
Missense
SNP
0.252
2--
STK24-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK31-
-
-
-
1Loss-
STK32A-
-
-
-
1Loss-
STK32Bp.X369_splice
Splice_Site
SNP
0.711
2--
STK32C-
-
-
-
3Gain-
STK33-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STK39-
-
-
-
1Loss-
STKLD1p.E60K
Missense
SNP
1.000
2--
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STOML1-
-
-
-
3Gain-
STOML3-
-
-
-
1Loss-
STON1p.P73L
Missense
SNP
0.697
NDND-
STON1-GTF2A1L-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STPG4-
-
-
-
1Loss-
STRA6p.P234S
Missense
SNP
0.656
3Gain-
STRADA-
-
-
-
3Gain-
STRADB-
-
-
-
1Loss-
STRAP-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRIP1-
-
-
-
3Gain-
STRN-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX3p.X181_splice
Splice_Site
DEL
0.300
2--
STXBP3-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUCLG1-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUGCT-
-
-
-
1Loss-
SUGP2p.G1049R
Missense
SNP
0.345
2--
SUGT1-
-
-
-
1Loss-
SULF1p.R38Q
Missense
SNP
0.431
2--
SULT1A1p.P38L
Missense
SNP
0.270
2--
SULT1C2-
-
-
-
3Gain-
SULT1C3-
-
-
-
3Gain-
SULT1C4-
-
-
-
3Gain-
SULT2B1p.W309*
Nonsense
SNP
0.728
3Gain-
SULT6B1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
20Amp-
SUMO1-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUMO3-
-
-
-
1Loss-
SUN1-
-
-
-
1Loss-
SUN3-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT7L-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SV2B-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVEP1p.C3267R
p.K2928*
Missense
Nonsense
SNP
SNP
1.000
0.985
2--
SVIL-
-
-
-
1Loss-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYBUp.G168E
Missense
SNP
0.630
2--
SYCE1-
-
-
-
3Gain-
SYCP1p.T286P
Missense
SNP
0.629
3Gain-
SYN2-
-
-
-
1Loss-
SYNE1p.R4792K
p.S4403L
p.Q3898*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.569
0.443
0.653
2--
SYNE2p.K2369M
p.S5655F
Missense
Missense
SNP
SNP
0.526
0.546
2--
SYNGR2-
-
-
-
3Gain-
SYNGR4-
-
-
-
3Gain-
SYNJ1p.P1149L
p.K3N
Missense
Missense
SNP
SNP
0.390
0.577
1Loss-
SYNMp.G303D
Missense
SNP
0.446
3Gain-
SYNPOp.P526L
Missense
SNP
0.707
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL2-
-
-
-
3Gain-
SYT10p.R417K
Missense
SNP
0.424
2--
SYT14p.K362*
Nonsense
SNP
0.302
2--
SYT3-
-
-
-
3Gain-
SYT4p.N330S
Missense
SNP
0.565
1Loss-
SYT5-
-
-
-
3Gain-
SYT6-
-
-
-
3Gain-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SZT2p.P1976S
Missense
SNP
0.329
2--
TACO1-
-
-
-
3Gain-
TACR1-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF13-
-
-
-
3Gain-
TAF1B-
-
-
-
1Loss-
TAF3-
-
-
-
1Loss-
TAF5Lp.S545N
Missense
SNP
0.552
2--
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANC2-
-
-
-
3Gain-
TANK-
-
-
-
1Loss-
TAPBPp.F417Sfs*63
Frame_Shift_Del
DEL
0.674
2--
TARM1-
-
-
-
3Gain-
TARSL2-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10Cp.E27K
Missense
SNP
0.455
2--
TBC1D16-
-
-
-
3Gain-
TBC1D17-
-
-
-
3Gain-
TBC1D21-
-
-
-
3Gain-
TBC1D23p.E78*
Nonsense
SNP
0.392
2--
TBC1D2B-
-
-
-
3Gain-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D8-
-
-
-
3Gain-
TBC1D9B-
-
-
-
3Gain-
TBCA-
-
-
-
1Loss-
TBCD-
-
-
-
3Gain-
TBCK-
-
-
-
1Loss-
TBR1-
-
-
-
1Loss-
TBRG4-
-
-
-
1Loss-
TBX15-
-
-
-
3Gain-
TBX18p.P288S
Missense
SNP
0.427
2--
TBX2-
-
-
-
3Gain-
TBX20-
-
-
-
1Loss-
TBX3p.G552S
p.S79F
Missense
Missense
SNP
SNP
0.439
0.484
2--
TBX4-
-
-
-
3Gain-
TCAIM-
-
-
-
1Loss-
TCEA2-
-
-
-
3Gain-
TCEB3p.E305*
Nonsense
SNP
0.635
NDND-
TCERG1-
-
-
-
1Loss-
TCERG1L-
-
-
-
3Gain-
TCF12-
-
-
-
3Gain-
TCF23-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCF7L1-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEAD2-
-
-
-
3Gain-
TEC-
-
-
-
1Loss-
TECPR1p.P478S
Missense
SNP
0.321
2--
TEKT4-
-
-
-
3Gain-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENM2-
-
-
-
3Gain-
TENT2-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
3Gain-
TEPSIN-
-
-
-
3Gain-
TERB2-
-
-
-
1Loss-
TERTp.P250L
Missense
SNP
0.491
2--
TET2-
-
-
-
1Loss-
TET3-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX19-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX261-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX51-
-
-
-
3Gain-
TEX9-
-
-
-
3Gain-
TFAP2Ap.S264C
Missense
SNP
0.771
2--
TFCP2L1-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFPI-
-
-
-
1Loss-
TFPT-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFA-
-
-
-
1Loss-
TGFB2p.E38K
Missense
SNP
0.372
2--
TGFB3p.I105N
p.E104K
Missense
Missense
SNP
SNP
0.447
0.458
2--
TGFBI-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
3Gain-
TGFBRAP1-
-
-
-
3Gain-
TGIF1-
-
-
-
1Loss-
TGM1p.P16L
Missense
SNP
0.367
2--
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TGOLN2-
-
-
-
3Gain-
TH-
-
-
-
1Loss-
THADA-
-
-
-
1Loss-
THAP10-
-
-
-
3Gain-
THAP4p.S205F
Missense
SNP
1.000
1Loss-
THAP9-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THG1L-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THNSL2-
-
-
-
1Loss-
THOC1-
-
-
-
1Loss-
THOC3-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THSD1p.P706S
Missense
SNP
0.507
1Loss-
THSD4-
-
-
-
3Gain-
THSD7Ap.M1308I
Missense
SNP
0.256
1Loss-
THSD7B-
-
-
-
1Loss-
THUMPD2-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIA1-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TICRRp.P1406F
Missense
MNP
0.445
3Gain-
TIE1p.A753P
p.E842K
Missense
Missense
SNP
SNP
0.326
0.400
2--
TIFA-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGD6-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMP2-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TIPIN-
-
-
-
3Gain-
TK1-
-
-
-
3Gain-
TKT-
-
-
-
1Loss-
TLE3-
-
-
-
3Gain-
TLK1-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLN1p.L2439F
Missense
SNP
1.000
2--
TLN2p.S208W
Missense
SNP
0.314
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR1p.F355Y
Missense
SNP
0.733
1Loss-
TLR10-
-
-
-
1Loss-
TLR5p.P67L
Missense
SNP
0.294
2--
TLR6p.S484F
Missense
SNP
0.675
1Loss-
TLR7p.P278L
Missense
SNP
1.000
NDND-
TLR9-
-
-
-
1Loss-
TLX2-
-
-
-
1Loss-
TLX3-
-
-
-
3Gain-
TM2D3-
-
-
-
3Gain-
TM4SF20-
-
-
-
1Loss-
TM6SF1-
-
-
-
3Gain-
TM9SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMC3-
-
-
-
3Gain-
TMC4-
-
-
-
3Gain-
TMC5p.S347L
Missense
SNP
0.385
2--
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
1Loss-
TMED5-
-
-
-
3Gain-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED9-
-
-
-
3Gain-
TMEFF2-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
3Gain-
TMEM106B-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM127-
-
-
-
3Gain-
TMEM131-
-
-
-
3Gain-
TMEM132Dp.G118R
Missense
SNP
0.483
2--
TMEM143-
-
-
-
3Gain-
TMEM150A-
-
-
-
1Loss-
TMEM150Bp.A98V
Missense
SNP
0.279
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM163-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
3Gain-
TMEM169-
-
-
-
1Loss-
TMEM17-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM177-
-
-
-
3Gain-
TMEM178A-
-
-
-
1Loss-
TMEM18-
-
-
-
1Loss-
TMEM182-
-
-
-
3Gain-
TMEM184A-
-
-
-
1Loss-
TMEM185B-
-
-
-
3Gain-
TMEM190-
-
-
-
3Gain-
TMEM196-
-
-
-
1Loss-
TMEM198-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM202-
-
-
-
3Gain-
TMEM214-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM234p.L140Y
Missense
MNP
0.367
2--
TMEM235-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM238-
-
-
-
3Gain-
TMEM247-
-
-
-
1Loss-
TMEM249-
-
-
-
3Gain-
TMEM255B-
-
-
-
1Loss-
TMEM266p.S27F
Missense
SNP
0.489
3Gain-
TMEM267p.L24F
Missense
SNP
0.512
2--
TMEM272-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM37-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM56-
-
-
-
3Gain-
TMEM56-RWDD3-
-
-
-
3Gain-
TMEM60-
-
-
-
1Loss-
TMEM62-
-
-
-
1Loss-
TMEM71-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM86B-
-
-
-
3Gain-
TMEM87A-
-
-
-
1Loss-
TMEM87B-
-
-
-
3Gain-
TMEM89-
-
-
-
1Loss-
TMEM94p.S196L
Missense
SNP
0.188
3Gain-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD3-
-
-
-
3Gain-
TMOD2p.V300L
Missense
SNP
1.000
1Loss-
TMOD3-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS15p.X391_splice
p.G34E
Splice_Site
Missense
SNP
SNP
0.217
0.396
2--
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMSB10-
-
-
-
1Loss-
TMTC1p.Q716*
Nonsense
SNP
0.421
2--
TMTC3p.P768S
Missense
SNP
0.492
2--
TMTC4-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP6-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13Bp.G138K
Missense
MNP
0.375
2--
TNFRSF19p.S321F
Missense
SNP
0.265
2--
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8p.S187F
Missense
SNP
0.311
2--
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3-
-
-
-
3Gain-
TNNT1-
-
-
-
3Gain-
TNNT3-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNPO1p.P593R
Missense
SNP
0.739
1Loss-
TNRp.S441F
Missense
SNP
0.642
2--
TNRC18-
-
-
-
1Loss-
TNRC6Ap.S210F
Missense
SNP
0.392
2--
TNRC6C-
-
-
-
3Gain-
TNS1p.P1370S
Missense
SNP
1.000
1Loss-
TNS3p.S155F
Missense
SNP
0.366
1Loss-
TNS4p.L649F
Missense
SNP
0.411
2--
TNXBp.E44K
Missense
SNP
0.385
2--
TOGARAM2-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOMM7-
-
-
-
1Loss-
TONSL-
-
-
-
3Gain-
TOP1MTp.E140K
Missense
SNP
0.391
3Gain-
TOP2B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOR1AIP2p.P164S
Missense
SNP
0.372
2--
TOXp.D274N
Missense
SNP
0.558
2--
TOX3-
-
-
-
1Loss-
TP53p.R342*
Nonsense
SNP
1.000
2--
TP53BP1-
-
-
-
1Loss-
TP53I3-
-
-
-
1Loss-
TP63p.P542L
Missense
SNP
0.321
2--
TPD52L2-
-
-
-
3Gain-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPM1-
-
-
-
3Gain-
TPO-
-
-
-
1Loss-
TPP1p.P202L
Missense
SNP
1.000
1Loss-
TPP2-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRKB-
-
-
-
1Loss-
TPRNp.T404I
Missense
SNP
1.000
2--
TPT1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TRA2A-
-
-
-
1Loss-
TRABD2A-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC12-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
3Gain-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRAV30p.N86I
Missense
SNP
0.523
NDND-
TRAV4p.V72A
Missense
SNP
0.593
NDND-
TRDMT1-
-
-
-
1Loss-
TRDNp.G723E
Missense
SNP
0.581
2--
TREX1-
-
-
-
1Loss-
TRHDEp.R362K
Missense
SNP
0.344
2--
TRIB2-
-
-
-
1Loss-
TRIL-
-
-
-
1Loss-
TRIM13-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM28-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM33-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM39-RPP21p.P491S
Missense
SNP
0.635
2--
TRIM40p.X115_splice
Splice_Site
SNP
0.368
2--
TRIM41-
-
-
-
3Gain-
TRIM43-
-
-
-
3Gain-
TRIM43B-
-
-
-
3Gain-
TRIM45-
-
-
-
3Gain-
TRIM47-
-
-
-
3Gain-
TRIM5-
-
-
-
1Loss-
TRIM52-
-
-
-
3Gain-
TRIM54-
-
-
-
1Loss-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM65-
-
-
-
3Gain-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIM77p.R33K
Missense
SNP
0.357
2--
TRIM9p.F487L
Missense
SNP
0.510
2--
TRIML2p.F400L
Missense
SNP
0.369
2--
TRIOBPp.A332T
Missense
SNP
0.562
2--
TRIP12-
-
-
-
1Loss-
TRIP4-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT13-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMT6p.S386F
Missense
SNP
0.479
2--
TRMT61B-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPC4-
-
-
-
1Loss-
TRPC4APp.P281L
Missense
SNP
0.400
2--
TRPC5p.L52F
Missense
SNP
1.000
NDND-
TRPC5OSp.S72*
Nonsense
SNP
1.000
NDND-
TRPC7-
-
-
-
1Loss-
TRPM1p.D1502N
Missense
SNP
0.429
2--
TRPM2-
-
-
-
1Loss-
TRPM3p.P123S
Missense
SNP
1.000
2--
TRPM4-
-
-
-
3Gain-
TRPM5-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPM8p.P958L
Missense
SNP
1.000
1Loss-
TSC22D1-
-
-
-
1Loss-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSEN34-
-
-
-
3Gain-
TSEN54-
-
-
-
3Gain-
TSG101-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSGA10IPp.R203K
Missense
SNP
0.402
2--
TSHB-
-
-
-
3Gain-
TSHZ1-
-
-
-
1Loss-
TSHZ3p.F1001C
Missense
SNP
0.540
2--
TSKS-
-
-
-
3Gain-
TSKUp.L138F
Missense
SNP
0.472
2--
TSLP-
-
-
-
1Loss-
TSNp.S213F
Missense
SNP
0.566
3Gain-
TSNARE1-
-
-
-
3Gain-
TSPAN10-
-
-
-
3Gain-
TSPAN13-
-
-
-
1Loss-
TSPAN17-
-
-
-
3Gain-
TSPAN2-
-
-
-
3Gain-
TSPAN3-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSPOAP1p.P854L
Missense
SNP
0.441
2--
TSPYL6-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC1p.P34F
Missense
MNP
0.714
3Gain-
TTC21A-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC23-
-
-
-
3Gain-
TTC25-
-
-
-
1Loss-
TTC27-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC30A-
-
-
-
1Loss-
TTC30B-
-
-
-
1Loss-
TTC31-
-
-
-
1Loss-
TTC32-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTF2p.R876K
Missense
SNP
0.336
3Gain-
TTI2-
-
-
-
1Loss-
TTL-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTLL8p.S444N
Missense
SNP
0.586
2--
TTNp.R27543K
Missense
SNP
1.000
1Loss-
TTR-
-
-
-
1Loss-
TTYH1-
-
-
-
3Gain-
TTYH2-
-
-
-
3Gain-
TTYH3-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB6-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBD1-
-
-
-
3Gain-
TUBGCP2-
-
-
-
3Gain-
TUBGCP3-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5p.G183*
Nonsense
SNP
0.292
2--
TULP2-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
1Loss-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC9-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TYK2p.A349V
Missense
SNP
0.477
2--
TYMPp.P37S
Missense
SNP
0.519
2--
TYMS-
-
-
-
1Loss-
TYRp.P70S
Missense
SNP
0.577
2--
TYRO3-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2AF1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2AF2-
-
-
-
3Gain-
UACA-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBALD2-
-
-
-
1Loss-
UBAP1L-
-
-
-
3Gain-
UBAP2Lp.S664F
Missense
SNP
0.631
2--
UBASH3Ap.P377S
Missense
SNP
0.486
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2Ip.P28S
Missense
SNP
0.415
2--
UBE2K-
-
-
-
1Loss-
UBE2M-
-
-
-
3Gain-
UBE2O-
-
-
-
1LossUBE2O--SRP68
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2S-
-
-
-
3Gain-
UBL3-
-
-
-
1Loss-
UBL4B-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBLCP1-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR3-
-
-
-
1Loss-
UBTD2-
-
-
-
3Gain-
UBXN2A-
-
-
-
1Loss-
UBXN4-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCHL5p.S95N
Missense
SNP
0.400
3Gain-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT1-
-
-
-
3Gain-
UGGT2-
-
-
-
1Loss-
UGP2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1p.M458I
Missense
SNP
0.427
2--
UGT2B15p.E239K
Missense
SNP
0.479
2--
UGT8-
-
-
-
1Loss-
UHMK1p.H86D
p.P367S
Missense
Missense
SNP
SNP
0.612
0.182
2--
UHRF1BP1p.L1428F
Missense
SNP
0.667
2--
UIMC1-
-
-
-
3Gain-
ULK3-
-
-
-
3Gain-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
1Loss-
UMODL1-
-
-
-
1Loss-
UNC13C-
-
-
-
3Gain-
UNC13D-
-
-
-
3Gain-
UNC45A-
-
-
-
3Gain-
UNC50-
-
-
-
3Gain-
UNC5A-
-
-
-
3Gain-
UNC5C-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC80-
-
-
-
1Loss-
UNC93Ap.T116S
Missense
SNP
0.579
2--
UNCX-
-
-
-
1Loss-
UNK-
-
-
-
3Gain-
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK3Ap.N153H
Missense
SNP
0.382
2--
UPP1-
-
-
-
1Loss-
UPP2-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URGCP-
-
-
-
1Loss-
URGCP-MRPS24-
-
-
-
1Loss-
UROC1p.M498I
Missense
SNP
0.603
2--
USH1C-
-
-
-
1Loss-
USH1G-
-
-
-
3Gain-
USH2Ap.R3429S
Missense
SNP
0.608
2--
USP1p.R14K
Missense
SNP
0.261
2--
USP14-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP29p.P660L
Missense
SNP
0.246
3Gain-
USP3-
-
-
-
3Gain-
USP32-
-
-
-
3Gain-
USP34-
-
-
-
1Loss-
USP36-
-
-
-
3Gain-
USP37-
-
-
-
1Loss-
USP39-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP42-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
USP8p.P578L
Missense
SNP
1.000
1Loss-
USPL1-
-
-
-
1Loss-
UTF1-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTRNp.D142V
Missense
SNP
0.500
2--
UTS2R-
-
-
-
3Gain-
UXS1-
-
-
-
3Gain-
VAMP5-
-
-
-
3Gain-
VAMP8-
-
-
-
3Gain-
VANGL1-
-
-
-
3Gain-
VAPA-
-
-
-
1Loss-
VASH1p.E120*
Nonsense
SNP
0.470
2--
VAV3p.X535_splice
Splice_Site
SNP
0.525
3Gain-
VAX2-
-
-
-
1Loss-
VCAM1-
-
-
-
3Gain-
VCANp.G149E
Missense
SNP
0.688
1Loss-
VCXp.P194L
Missense
SNP
0.167
NDND-
VDAC1-
-
-
-
1Loss-
VENTX-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIT-
-
-
-
1Loss-
VKORC1p.E56K
Missense
SNP
0.456
2--
VMO1p.P43L
Missense
SNP
0.433
2--
VMP1p.E361K
Missense
SNP
0.146
2-CLTC--VMP1
VN1R1-
-
-
-
3Gain-
VN1R2p.E146K
Missense
SNP
0.255
3Gain-
VN1R4p.R112K
Missense
SNP
0.221
3Gain-
VOPP1-
-
-
-
21Amp-
VPS13C-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS26C-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS33B-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
1Loss-
VPS45p.M27K
Missense
SNP
0.398
2--
VPS4B-
-
-
-
1Loss-
VPS54-
-
-
-
1Loss-
VPS72p.P361S
Missense
SNP
0.534
2--
VPS9D1p.L383V
Missense
SNP
0.370
2--
VRK2-
-
-
-
1Loss-
VRK3p.P260S
Missense
SNP
0.331
3Gain-
VSIG10Lp.S761L
p.R570P
Missense
Missense
SNP
SNP
0.321
0.369
3Gain-
VSNL1-
-
-
-
1Loss-
VSTM1-
-
-
-
3Gain-
VSTM2A-
-
-
-
1Loss-
VTCN1-
-
-
-
3Gain-
VWA3B-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWC2-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWDEp.E573K
Missense
SNP
0.629
1Loss-
VWFp.P2506L
Missense
SNP
1.000
2--
WAC-
-
-
-
1Loss-
WARS2-
-
-
-
3Gain-
WBP1-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP4-
-
-
-
1Loss-
WDCP-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDPCP-
-
-
-
1Loss-
WDR11p.S1146C
Missense
SNP
0.400
2--
WDR12-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR3-
-
-
-
3Gain-
WDR33-
-
-
-
3Gain-
WDR35-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR4-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR43-
-
-
-
1Loss-
WDR45B-
-
-
-
3Gain-
WDR47p.V7M
Missense
SNP
0.648
3Gain-
WDR48-
-
-
-
1Loss-
WDR54-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR61p.L90F
Missense
SNP
0.473
3Gain-
WDR7-
-
-
-
1Loss-
WDR72p.P827S
Missense
SNP
0.589
3Gain-
WDR73-
-
-
-
3Gain-
WDR75-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR77-
-
-
-
3Gain-
WDR82-
-
-
-
1Loss-
WDR92-
-
-
-
1Loss-
WDR93-
-
-
-
3Gain-
WDR97p.D710N
Missense
SNP
0.345
3Gain-
WDSUB1-
-
-
-
1Loss-
WDTC1-
-
-
-
1Loss-
WEE1-
-
-
-
1Loss-
WHAMM-
-
-
-
3Gain-
WHSC1L1p.P1072S
Missense
SNP
0.440
NDND-
WIPF1-
-
-
-
1Loss-
WIPF3-
-
-
-
13Amp-
WIPI1-
-
-
-
3Gain-
WIPI2-
-
-
-
1Loss-
WISP1-
-
-
-
3Gain-
WNK3p.S1057F
Missense
SNP
1.000
NDND-
WNT10A-
-
-
-
1Loss-
WNT2B-
-
-
-
3Gain-
WNT5A-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7Ap.G291S
Missense
SNP
1.000
1Loss-
WNT8A-
-
-
-
1Loss-
WNT9Ap.V360I
Missense
SNP
0.340
2--
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
WWC1-
-
-
-
3Gain-
WWP2p.Y318F
Missense
SNP
0.473
2--
XCL1p.K87T
Missense
SNP
0.386
2--
XCR1-
-
-
-
1Loss-
XDH-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XIRP2p.K1446E
Missense
SNP
1.000
1Loss-
XKR3p.P34S
Missense
SNP
0.561
2--
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9p.W62*
Nonsense
SNP
0.414
2--
XPC-
-
-
-
1Loss-
XPO1p.A507T
Missense
SNP
0.322
1Loss-
XPO7-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YES1-
-
-
-
1Loss-
YIPF4-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YJEFN3p.G289R
Missense
SNP
0.609
2--
YKT6-
-
-
-
1Loss-
YLPM1p.S974L
Missense
SNP
0.453
2--
YME1L1-
-
-
-
1LossYME1L1--PRR15
YPEL5-
-
-
-
1Loss-
YTHDC1p.P612L
p.E405D
Missense
Missense
SNP
SNP
0.604
0.375
2--
YTHDC2-
-
-
-
1Loss-
YWHAQ-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZACN-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZAP70-
-
-
-
3Gain-
ZAR1-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBED8-
-
-
-
3Gain-
ZBED9p.S592Kfs*4
p.E266K
Frame_Shift_Ins
Missense
INS
SNP
0.144
0.256
2--
ZBTB10p.V806I
Missense
SNP
0.485
2--
ZBTB14-
-
-
-
1Loss-
ZBTB21-
-
-
-
1Loss-
ZBTB4p.S88C
Missense
SNP
0.631
2--
ZBTB41-
-
-
-
3Gain-
ZBTB45-
-
-
-
3Gain-
ZBTB46-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB7Ap.P524L
p.H400Q
Missense
Missense
SNP
SNP
0.364
0.545
2--
ZBTB7C-
-
-
-
1Loss-
ZC3H11Bp.P730L
Missense
SNP
0.124
NDND-
ZC3H13-
-
-
-
1Loss-
ZC3H15-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H6-
-
-
-
3Gain-
ZC3H8-
-
-
-
3Gain-
ZC4H2p.S131F
Missense
SNP
1.000
NDND-
ZCCHC10-
-
-
-
1Loss-
ZCCHC2p.L704V
Missense
SNP
0.688
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC14p.P8L
Missense
SNP
0.327
2--
ZDHHC19p.P292S
Missense
SNP
0.556
2--
ZDHHC2-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
1Loss-
ZDHHC8p.L195H
Missense
SNP
0.467
2--
ZEB1p.Q978Hfs*9
Frame_Shift_Del
DEL
0.479
1Loss-
ZEB2-
-
-
-
1Loss-
ZFAND2A-
-
-
-
1Loss-
ZFAND2B-
-
-
-
1Loss-
ZFAND6-
-
-
-
3Gain-
ZFATp.E1167K
Missense
SNP
0.291
3Gain-
ZFC3H1p.E470K
Missense
SNP
0.488
2--
ZFP1p.Q363*
Nonsense
SNP
0.561
2--
ZFP2-
-
-
-
3Gain-
ZFP28-
-
-
-
3Gain-
ZFP36L2-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP62-
-
-
-
3Gain-
ZFP64p.S252F
Missense
SNP
0.431
2--
ZFPL1p.L280F
Missense
SNP
0.444
2--
ZFRp.K830R
Missense
SNP
0.529
2--
ZFR2p.V554L
Missense
SNP
0.562
2--
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
3Gain-
ZIM2-
-
-
-
3Gain-
ZIM3p.E66K
Missense
SNP
0.339
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT4p.G96D
Missense
SNP
0.234
2--
ZMIZ2-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZNF101p.S152F
Missense
SNP
0.638
2--
ZNF106-
-
-
-
1Loss-
ZNF114-
-
-
-
3Gain-
ZNF12-
-
-
-
1Loss-
ZNF132p.R521K
Missense
SNP
0.538
2--
ZNF134-
-
-
-
3Gain-
ZNF135-
-
-
-
3Gain-
ZNF142-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF154p.G129E
Missense
SNP
0.341
3Gain-
ZNF16-
-
-
-
3Gain-
ZNF160-
-
-
-
3Gain-
ZNF17-
-
-
-
3Gain-
ZNF175p.S8F
Missense
SNP
0.273
3Gain-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF2-
-
-
-
3Gain-
ZNF211-
-
-
-
3Gain-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF222p.F398Y
Missense
SNP
0.483
2--
ZNF226p.S795F
Missense
SNP
0.300
2--
ZNF23p.S349F
Missense
SNP
0.455
2--
ZNF235p.P175L
p.E170K
Missense
Missense
SNP
SNP
0.494
0.472
2--
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF254p.P88S
Missense
SNP
0.463
2--
ZNF256-
-
-
-
3Gain-
ZNF263p.P307L
Missense
SNP
0.495
2--
ZNF264-
-
-
-
3Gain-
ZNF274-
-
-
-
3Gain-
ZNF28-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF302p.S127L
Missense
SNP
0.478
2--
ZNF304-
-
-
-
3Gain-
ZNF316-
-
-
-
1Loss-
ZNF318p.P1587S
Missense
SNP
0.602
2--
ZNF320p.E345*
p.R320C
Nonsense
Missense
SNP
SNP
0.321
0.314
3Gain-
ZNF324-
-
-
-
3Gain-
ZNF324B-
-
-
-
3Gain-
ZNF326-
-
-
-
3Gain-
ZNF329-
-
-
-
3Gain-
ZNF331-
-
-
-
3Gain-
ZNF33A-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF343p.S222F
p.S200F
Missense
Missense
SNP
SNP
0.439
0.547
2--
ZNF346-
-
-
-
3Gain-
ZNF347-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF350-
-
-
-
3Gain-
ZNF354A-
-
-
-
3Gain-
ZNF354B-
-
-
-
3Gain-
ZNF354C-
-
-
-
3Gain-
ZNF366-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF385B-
-
-
-
1Loss-
ZNF385C-
-
-
-
1Loss-
ZNF385Dp.P372S
Missense
SNP
1.000
1Loss-
ZNF394p.Q377*
Nonsense
SNP
0.341
2--
ZNF395-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF404p.K358M
Missense
SNP
0.351
2--
ZNF407p.C1633*
Nonsense
SNP
0.348
1Loss-
ZNF415-
-
-
-
3Gain-
ZNF416-
-
-
-
3Gain-
ZNF417-
-
-
-
3Gain-
ZNF418p.H548Y
p.R498C
Missense
Missense
SNP
SNP
0.340
0.327
3Gain-
ZNF419-
-
-
-
3Gain-
ZNF423p.P221S
Missense
SNP
0.418
2--
ZNF426p.E365D
Missense
SNP
0.608
2--
ZNF432-
-
-
-
3Gain-
ZNF438-
-
-
-
1Loss-
ZNF444-
-
-
-
3Gain-
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
3Gain-
ZNF454-
-
-
-
3Gain-
ZNF460-
-
-
-
3Gain-
ZNF468-
-
-
-
3Gain-
ZNF469p.E2996K
Missense
SNP
0.392
2--
ZNF470-
-
-
-
3Gain-
ZNF471-
-
-
-
3Gain-
ZNF473-
-
-
-
3Gain-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF480-
-
-
-
3Gain-
ZNF488p.S296F
Missense
SNP
0.445
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF512-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF513p.R264Q
Missense
SNP
0.369
1Loss-
ZNF514-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF519-
-
-
-
1Loss-
ZNF521p.A386V
Missense
SNP
0.474
2--
ZNF524-
-
-
-
3Gain-
ZNF525-
-
-
-
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF530-
-
-
-
3Gain-
ZNF532-
-
-
-
1Loss-
ZNF534-
-
-
-
3Gain-
ZNF536p.A82S
Missense
SNP
0.517
2--
ZNF543-
-
-
-
3Gain-
ZNF547-
-
-
-
3Gain-
ZNF548-
-
-
-
3Gain-
ZNF549-
-
-
-
3Gain-
ZNF550-
-
-
-
3Gain-
ZNF551-
-
-
-
3Gain-
ZNF552-
-
-
-
3Gain-
ZNF555p.E359K
Missense
SNP
0.600
2--
ZNF560p.E47K
Missense
SNP
0.417
2--
ZNF577-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF579-
-
-
-
3Gain-
ZNF580-
-
-
-
3Gain-
ZNF581-
-
-
-
3Gain-
ZNF582-
-
-
-
3Gain-
ZNF583p.V412L
Missense
SNP
0.287
3Gain-
ZNF586-
-
-
-
3Gain-
ZNF587-
-
-
-
3Gain-
ZNF587B-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF592p.H278Y
Missense
SNP
0.590
3Gain-
ZNF596-
-
-
-
1Loss-
ZNF598p.L648R
Missense
SNP
0.489
2--
ZNF600-
-
-
-
3Gain-
ZNF605p.F462C
Missense
SNP
0.559
2--
ZNF606-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
3Gain-
ZNF610p.D182N
Missense
SNP
0.268
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF613p.R99K
Missense
SNP
0.298
3Gain-
ZNF614-
-
-
-
3Gain-
ZNF615-
-
-
-
3Gain-
ZNF616-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF628-
-
-
-
3Gain-
ZNF638-
-
-
-
1Loss-
ZNF644-
-
-
-
3Gain-
ZNF649p.C383G
Missense
SNP
0.354
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF665-
-
-
-
3Gain-
ZNF667-
-
-
-
3Gain-
ZNF669p.H152Y
Missense
SNP
0.689
2--
ZNF671-
-
-
-
3Gain-
ZNF677-
-
-
-
3Gain-
ZNF680p.S169L
Missense
SNP
0.409
2--
ZNF69p.E37K
p.R526K
Missense
Missense
SNP
SNP
0.477
0.508
2--
ZNF696-
-
-
-
3Gain-
ZNF697-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF701p.Q166*
p.N486I
Nonsense
Missense
SNP
SNP
0.346
0.304
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF707-
-
-
-
3Gain-
ZNF71-
-
-
-
3Gain-
ZNF710-
-
-
-
3Gain-
ZNF713-
-
-
-
20Amp-
ZNF716p.R261K
Missense
SNP
0.515
3Gain-
ZNF717p.E489K
Missense
SNP
0.236
1Loss-
ZNF726p.Q296L
Missense
SNP
0.506
2--
ZNF728p.H586I
Missense
MNP
0.568
2--
ZNF730p.S169L
p.E315K
p.K347T
Missense
Missense
Missense
SNP
SNP
SNP
0.441
0.563
0.537
2--
ZNF746p.P258L
Missense
SNP
0.712
2--
ZNF749-
-
-
-
3Gain-
ZNF750-
-
-
-
3Gain-
ZNF761p.G406R
Missense
SNP
0.675
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF766-
-
-
-
3Gain-
ZNF772-
-
-
-
3Gain-
ZNF773-
-
-
-
3Gain-
ZNF774-
-
-
-
3Gain-
ZNF776-
-
-
-
3Gain-
ZNF784-
-
-
-
3Gain-
ZNF787p.P65F
Missense
MNP
0.370
3Gain-
ZNF792p.P309S
Missense
SNP
0.419
2--
ZNF804Ap.H936D
Missense
SNP
1.000
1Loss-
ZNF804Bp.H287Y
p.G884E
Missense
Missense
SNP
SNP
0.618
0.458
2--
ZNF805-
-
-
-
3Gain-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF814-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF835p.A335T
Missense
SNP
0.281
3Gain-
ZNF836-
-
-
-
3Gain-
ZNF841-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF85p.H448Y
Missense
SNP
0.486
2--
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF865-
-
-
-
3Gain-
ZNF879-
-
-
-
3Gain-
ZNF880-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF92p.P536S
Missense
SNP
0.196
2--
ZNRF2-
-
-
-
21Amp-
ZP2p.T633I
Missense
SNP
0.357
2--
ZPBP-
-
-
-
1Loss-
ZRANB1p.Q231*
Nonsense
SNP
0.642
2--
ZRANB3-
-
-
-
1Loss-
ZSCAN1-
-
-
-
3Gain-
ZSCAN10p.P206R
Missense
SNP
0.466
2--
ZSCAN18p.E363K
Missense
SNP
0.362
3Gain-
ZSCAN2-
-
-
-
3Gain-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSCAN4-
-
-
-
3Gain-
ZSCAN5A-
-
-
-
3Gain-
ZSCAN5B-
-
-
-
3Gain-
ZSCAN5C-
-
-
-
3Gain-
ZSWIM2-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZSWIM9-
-
-
-
3Gain-
ZWILCH-
-
-
-
3Gain-