PDMR-415371~026-R~YQ9XP1WT3-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A2ML1p.G385E
Missense
SNP
0.500
2--
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AADAT-
-
-
-
1Loss-
AARD-
-
-
-
5Amp-
AASDHp.G435R
Missense
SNP
0.353
2--
AASS-
-
-
-
3Gain-
ABCA1p.P582L
Missense
SNP
0.295
3Gain-
ABCA13p.R4214Q
p.Q4732*
p.K4959N
Missense
Nonsense
Missense
SNP
SNP
SNP
0.405
0.516
0.427
3Gain-
ABCA2-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCA8p.F1234Y
Missense
SNP
0.163
2--
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5p.V249I
Missense
SNP
0.454
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC11p.E358V
Missense
SNP
0.545
2--
ABCC5-
-
-
-
3Gain-
ABCC6p.E1075K
Missense
SNP
0.615
2--
ABCC9p.S740F
Missense
SNP
0.426
2--
ABCF2-
-
-
-
3Gain-
ABCF3-
-
-
-
3Gain-
ABCG2p.G80K
Missense
MNP
0.326
2--
ABCG4p.P322L
Missense
SNP
0.502
2--
ABHD10-
-
-
-
3Gain-
ABHD11p.L152R
Missense
SNP
0.453
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD15p.P227S
Missense
SNP
0.691
2--
ABHD17A-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI3p.S308L
Missense
SNP
0.281
2--
ABI3BP-
-
-
-
3Gain-
ABL1-
-
-
-
3Gain-
ABLIM1p.S756F
Missense
SNP
0.497
2--
ABLIM3-
-
-
-
1Loss-
ABO-
-
-
-
3Gain-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
5Amp-
ABTB1-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002985.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005041.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005779.2-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC009879.2-
-
-
-
5Amp-
AC009879.3-
-
-
-
5Amp-
AC010132.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011448.1-
-
-
-
1Loss-
AC011452.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012213.5-
-
-
-
5Amp-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
5Amp-
AC024592.3-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
5Amp-
AC055811.2-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
5Amp-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104304.4p.R76L
Missense
SNP
0.659
NDND-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC109583.3-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC113348.2-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC138647.1p.W43*;p.E44K
Nonsense
MNP
0.298
6Amp-
AC138696.1-
-
-
-
6Amp-
AC139491.7-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACACBp.E1058K
Missense
SNP
0.532
2--
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADVL-
-
-
-
1Loss-
ACANp.P1859S
p.A2191V
Missense
Missense
SNP
SNP
0.555
0.453
2--
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACDp.L511F
Missense
SNP
0.363
2--
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACMSDp.X34_splice
Splice_Site
SNP
0.559
2--
ACO1-
-
-
-
1Loss-
ACOT7p.G97E
Missense
SNP
0.600
2--
ACOX2p.V53A
Missense
SNP
0.608
1Loss-
ACP4-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACSBG2-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM2Ap.R5L
p.R108C
Missense
Missense
SNP
SNP
0.563
0.052
2--
ACSM2Bp.R108C
Missense
SNP
0.451
2--
ACTB-
-
-
-
3GainRNA5-8SN2--ACTB
ACTG2-
-
-
-
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTN4p.G377S
Missense
SNP
0.439
2--
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACTRT2p.P274L
Missense
SNP
0.602
2--
ACTRT3-
-
-
-
3Gain-
ACVR2Bp.G271D
Missense
SNP
0.670
1Loss-
ACVRL1p.G158R
Missense
SNP
0.597
2--
ACY1-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM28p.E162K
Missense
SNP
0.364
2--
ADAM29-
-
-
-
1Loss-
ADAM30p.E721K
Missense
SNP
0.452
2--
ADAM32p.Q18K
p.S330L
Missense
Missense
SNP
SNP
0.595
0.631
2--
ADAMTS13p.F751L
Missense
SNP
1.000
3Gain-
ADAMTS15p.P884L
Missense
SNP
0.507
2--
ADAMTS18p.G353E
Missense
SNP
0.378
2--
ADAMTS19p.K512R
Missense
SNP
0.589
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS6p.G481S
Missense
SNP
0.558
2--
ADAMTS7p.G328R
Missense
SNP
0.528
2--
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADARB1p.T732I
Missense
SNP
0.500
2--
ADAT3-
-
-
-
1Loss-
ADCK1p.X194_splice
Splice_Site
SNP
0.354
2--
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
6Amp-
ADCY1-
-
-
-
3Gain-
ADCY5-
-
-
-
3Gain-
ADCY8p.G1219E
Missense
SNP
0.158
5Amp-
ADCYAP1R1-
-
-
-
3Gain-
ADGBp.Y902S
Missense
SNP
0.566
2--
ADGRA2p.A228V
p.E863K
Missense
Missense
SNP
SNP
0.493
0.606
2--
ADGRB1-
-
-
-
6Amp-
ADGRD2-
-
-
-
3Gain-
ADGRE1-
-
-
-
1Loss-
ADGRE2p.A330V
Missense
SNP
0.484
2--
ADGRE3p.L498H
Missense
SNP
0.610
2--
ADGRE5p.S578W
Missense
SNP
0.500
2--
ADGRG7-
-
-
-
3Gain-
ADGRL4p.A287T
Missense
SNP
0.458
2--
ADGRV1p.P1346S
Missense
SNP
0.390
2--
ADHFE1-
-
-
-
5Amp-
ADIPOQ-
-
-
-
3Gain-
ADM5-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
AEBP1p.T178I
Missense
SNP
0.457
3Gain-
AES-
-
-
-
1Loss-
AFAP1p.Y184N
Missense
SNP
0.605
2--
AFAP1L1-
-
-
-
1Loss-
AFF1p.S691L
Missense
SNP
0.306
2--
AFF3p.S704F
Missense
SNP
0.569
2--
AFF4-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP14Pp.Y314*
Nonsense
SNP
0.258
NDND-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
5Amp-
AGPAT2-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRNp.Q431*
Nonsense
SNP
0.473
2--
AGTPBP1-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK2p.P4021Wfs*10
p.S4517F
p.S338L
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.351
0.418
0.548
2--
AHR-
-
-
-
3Gain-
AHRRp.G103E
Missense
SNP
0.511
2--
AHSG-
-
-
-
3Gain-
AIF1L-
-
-
-
3Gain-
AIG1p.F187L
Missense
SNP
0.132
2--
AIM1Lp.M1046I
Missense
SNP
0.588
NDND-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AJM1-
-
-
-
3Gain-
AJUBAp.G198E
Missense
SNP
0.434
2--
AK1-
-
-
-
3Gain-
AK3-
-
-
-
1Loss-
AK8-
-
-
-
3Gain-
AKAP10-
-
-
-
1Loss-
AKAP2-
-
-
-
3Gain-
AKAP8p.G302S
Missense
SNP
0.524
2--
AKAP9-
-
-
-
3Gain-
AKNA-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15p.P109S
Missense
SNP
0.468
3Gain-
AKR1D1p.E152K
Missense
SNP
1.000
3Gain-
AKT1S1-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AL133410.3-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162417.1-
-
-
-
3Gain-
AL355987.1-
-
-
-
3Gain-
AL355987.3-
-
-
-
3Gain-
AL358113.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL672142.1-
-
-
-
3Gain-
AL807752.6-
-
-
-
3Gain-
AL807752.7-
-
-
-
3Gain-
AL929554.1-
-
-
-
3Gain-
ALAD-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH16A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1B1-
-
-
-
1Loss-
ALDH1L1-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH5A1p.P288S
Missense
SNP
1.000
2--
ALDH7A1-
-
-
-
1Loss-
ALDOB-
-
-
-
3Gain-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALKAL1-
-
-
-
5Amp-
ALKBH4-
-
-
-
3Gain-
ALKBH5-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALMS1p.E1909K
Missense
SNP
0.481
2--
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3p.D212N
Missense
SNP
0.250
1Loss-
ALPK3p.G711E
Missense
SNP
0.307
2--
ALS2CL-
-
-
-
1Loss-
AMBP-
-
-
-
3Gain-
AMBRA1p.P1195S
Missense
SNP
0.449
2--
AMER3p.P657F
p.K684T
Missense
Missense
MNP
SNP
0.375
0.542
2--
AMH-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMOTp.S563F
Missense
SNP
1.000
NDND-
AMOTL1p.Q337*
Nonsense
SNP
0.452
2--
AMOTL2-
-
-
-
3Gain-
AMPD2p.P148L
Missense
SNP
0.530
2--
AMPHp.E558K
p.M267I
p.G239R
Missense
Missense
Missense
SNP
SNP
SNP
0.545
0.482
0.538
3Gain-
AMT-
-
-
-
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1p.W340*
Nonsense
SNP
0.459
3Gain-
ANAPC13-
-
-
-
3Gain-
ANAPC2-
-
-
-
3Gain-
ANGPT1-
-
-
-
5Amp-
ANGPTL2-
-
-
-
3Gain-
ANK1p.D1858N
Missense
SNP
0.315
2--
ANK3p.P4196L
p.P2631L
Missense
Missense
SNP
SNP
0.444
0.546
2--
ANKFN1p.E1053A
Missense
SNP
0.210
2--
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKMY2p.P409F
Missense
MNP
0.488
3Gain-
ANKRA2p.G226S
Missense
SNP
0.436
2--
ANKRD11p.S1967F
Missense
SNP
0.314
2--
ANKRD12p.P349F
Missense
MNP
0.186
2--
ANKRD18Ap.G318E
Missense
SNP
1.000
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD26p.E1376K
Missense
SNP
0.236
2--
ANKRD28-
-
-
-
1Loss-
ANKRD30Ap.E1332K
Missense
SNP
0.537
2--
ANKRD34Cp.S289F
Missense
SNP
0.487
2--
ANKRD35p.V874M
Missense
SNP
0.373
2--
ANKRD36B-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD46-
-
-
-
5Amp-
ANKRD6-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD65p.G280R
Missense
SNP
0.468
2--
ANKRD7-
-
-
-
3Gain-
ANKS1Bp.P1202L
Missense
SNP
0.570
2--
ANKS6-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANLNp.P963L
Missense
SNP
0.484
3Gain-
ANO10-
-
-
-
1Loss-
ANO2p.S180F
Missense
SNP
0.538
2--
ANO3p.G814E
Missense
SNP
0.418
2--
ANO7p.D31N
Missense
SNP
0.413
2--
ANP32B-
-
-
-
3Gain-
ANXA1-
-
-
-
3Gain-
ANXA13p.G102D
Missense
SNP
0.247
5Amp-
ANXA6-
-
-
-
1Loss-
ANXA7p.P121S
Missense
SNP
0.590
2--
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP000349.2p.W115*
Nonsense
SNP
0.513
NDND-
AP1S1-
-
-
-
3Gain-
AP1S2p.T79I
Missense
SNP
1.000
NDND-
AP2A1-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP2S1-
-
-
-
1Loss-
AP3B2p.P905L
p.S662F
Missense
Missense
SNP
SNP
0.450
0.507
2--
AP3D1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBA1-
-
-
-
3Gain-
APBA3-
-
-
-
1Loss-
APBB1p.S631F
Missense
SNP
0.562
2--
APBB3-
-
-
-
1Loss-
APC2p.G1807E
Missense
SNP
0.436
1Loss-
APEH-
-
-
-
1Loss-
APOA1p.G15R
Missense
SNP
0.465
2--
APOBp.S4244F
Missense
SNP
0.423
2--
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOE-
-
-
-
1Loss-
APOL2p.P86L
Missense
SNP
0.458
2--
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP3-
-
-
-
1Loss-
AQP4p.L160F
Missense
SNP
0.495
2--
AQP7-
-
-
-
1Loss-
ARAP3p.A777T
Missense
SNP
0.357
1Loss-
ARC-
-
-
-
6Amp-
ARF4-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARFGAP1p.F111S
Missense
SNP
0.378
2--
ARFGEF1p.G1078R
p.E145K
Missense
Missense
SNP
SNP
0.681
0.223
5Amp-
ARGFX-
-
-
-
3Gain-
ARHGAP18p.P652L
p.L551S
Missense
Missense
SNP
SNP
0.541
0.667
2--
ARHGAP26p.R120Q
Missense
SNP
0.333
1Loss-
ARHGAP27p.G379N
Missense
MNP
0.330
2--
ARHGAP31p.G568E
Missense
SNP
0.676
3Gain-
ARHGAP35-
-
-
-
1Loss-
ARHGAP39-
-
-
-
6Amp-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGEF1p.S374F
Missense
SNP
0.535
2--
ARHGEF10p.P550L
Missense
SNP
0.389
2--
ARHGEF10Lp.P1262S
Missense
SNP
0.494
2--
ARHGEF15-
-
-
-
1Loss-
ARHGEF16p.A79T
Missense
SNP
0.510
2--
ARHGEF18-
-
-
-
1Loss-
ARHGEF19p.S340F
Missense
SNP
0.561
2--
ARHGEF26-
-
-
-
3Gain-
ARHGEF28p.S179F
Missense
SNP
0.542
2--
ARHGEF3-
-
-
-
1Loss-
ARHGEF33p.E711K
Missense
SNP
0.573
2--
ARHGEF37-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID1Ap.G324S
p.P1147S
Missense
Missense
SNP
SNP
0.531
0.494
2--
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARID5Bp.P557S
Missense
SNP
0.450
2--
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL6-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
5Amp-
ARMC10-
-
-
-
3Gain-
ARMC6-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMC9p.P737L
Missense
SNP
0.486
2--
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5L-
-
-
-
3Gain-
ARPP21-
-
-
-
1Loss-
ARRB1p.X161_splice
Splice_Site
SNP
0.545
2--
ARRB2-
-
-
-
1Loss-
ARRDC1-
-
-
-
3Gain-
ARRDC5-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARVCFp.R638Q
Missense
SNP
0.500
2--
ASAH1p.*412Lext*11
Nonstop
SNP
0.500
2--
ASAP1-
-
-
-
5Amp-
ASAP2p.P849L
Missense
SNP
0.525
2--
ASB10-
-
-
-
3Gain-
ASB14-
-
-
-
1Loss-
ASB15-
-
-
-
3Gain-
ASB2p.P622S
p.E137K
Missense
Missense
SNP
SNP
0.488
0.473
2--
ASB3p.T270I
Missense
SNP
0.466
2--
ASB4-
-
-
-
3Gain-
ASB5-
-
-
-
1Loss-
ASB6-
-
-
-
3Gain-
ASCC2p.S144F
Missense
SNP
0.429
2--
ASCC3p.P1656S
Missense
SNP
0.485
2--
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2Lp.P624L
Missense
SNP
0.644
2--
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNSp.V360G
Missense
SNP
0.609
3Gain-
ASPA-
-
-
-
1Loss-
ASPDH-
-
-
-
1Loss-
ASPHp.P756S
p.S626R
Missense
Missense
SNP
SNP
0.686
0.293
5Amp-
ASPMp.R2118K
Missense
SNP
0.567
2--
ASPNp.G219R
Missense
SNP
0.632
3Gain-
ASS1p.Q125*
Nonsense
SNP
0.988
3Gain-
ASTE1-
-
-
-
3Gain-
ASTN2p.R602C
Missense
SNP
0.673
3Gain-
ASXL2p.P900Lfs*34
p.K124Rfs*43
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.542
0.460
2--
ASXL3p.S756F
Missense
SNP
0.470
2--
ASZ1-
-
-
-
3Gain-
ATAD2p.S969L
p.R847C
Missense
Missense
SNP
SNP
0.257
0.261
5Amp-
ATCAY-
-
-
-
1Loss-
ATE1p.R212W
Missense
SNP
0.434
2--
ATF5-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG7-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATMINp.P128L
Missense
MNP
0.513
2--
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A1-
-
-
-
1Loss-
ATP13A3p.P298S
Missense
SNP
0.288
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A2p.E317K
Missense
SNP
0.348
2--
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
3Gain-
ATP2A1p.S261F
Missense
SNP
0.396
2--
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
5Amp-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
5Amp-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1H-
-
-
-
5Amp-
ATP8B3-
-
-
-
1Loss-
ATP8B4p.R444K
Missense
SNP
0.551
2--
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
ATRIP-
-
-
-
1Loss-
ATRNL1p.R978L
Missense
SNP
0.426
2--
ATXN3Lp.G103D
Missense
SNP
0.995
NDND-
ATXN7-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
AUH-
-
-
-
3Gain-
AUP1-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AUTS2p.P890F
Missense
MNP
0.479
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1Ap.R288H
Missense
SNP
0.602
2--
AVPR1Bp.R265W
Missense
SNP
0.385
2--
AXDND1p.E634K
Missense
SNP
0.471
2--
AZGP1-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
5Amp-
AZU1-
-
-
-
1Loss-
B3GALNT1-
-
-
-
3Gain-
B3GAT3p.P119S
Missense
SNP
0.484
2--
B3GNT5-
-
-
-
3Gain-
B4GALT1-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT6p.E343K
Missense
SNP
0.541
2--
B4GALT7-
-
-
-
1Loss-
B9D1p.E154K
Missense
SNP
0.348
1Loss-
BAALCp.G59R
Missense
SNP
0.230
5Amp-
BAAT-
-
-
-
3Gain-
BACH2-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAHCC1p.P484S
p.P820S
Missense
Missense
SNP
SNP
0.233
0.746
2--
BAHD1p.P397L
Missense
SNP
0.530
2--
BAIAP2L1-
-
-
-
3Gain-
BAP1-
-
-
-
1Loss-
BARHL1-
-
-
-
3Gain-
BARHL2p.G214E
Missense
SNP
0.478
2--
BARX1-
-
-
-
3Gain-
BAX-
-
-
-
1Loss-
BAZ1Ap.G277R
Missense
SNP
0.629
2--
BAZ1B-
-
-
-
3Gain-
BBC3-
-
-
-
1Loss-
BBS4p.P30S
Missense
SNP
0.434
2--
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
3Gain-
BCAM-
-
-
-
1Loss-
BCANp.S302I
Missense
SNP
0.444
2--
BCAP29-
-
-
-
3Gain-
BCAT2p.S205F
Missense
SNP
0.547
1Loss-
BCHE-
-
-
-
3Gain-
BCL2L12-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCO2p.D188E
Missense
SNP
0.480
2--
BDH1-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BFSP2-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
5Amp-
BHLHE40-
-
-
-
1Loss-
BHMG1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BICRA-
-
-
-
1Loss-
BIRC6p.G3167S;p.X3167_splice
Splice_Site
MNP
0.476
2--
BIRC8-
-
-
-
1Loss-
BLMp.G950V
Missense
SNP
0.470
2--
BLMHp.E214*
Nonsense
SNP
0.256
2--
BLOC1S3-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BMP3p.G261E
Missense
SNP
0.261
2--
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP1p.S199R
Missense
SNP
0.329
1Loss-
BOC-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOLA3-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIFCp.S276F
Missense
SNP
0.465
2--
BRAF-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD3-
-
-
-
3Gain-
BRD8-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRINP1p.R705C
Missense
SNP
0.365
3Gain-
BRINP3p.S320*
Nonsense
SNP
0.512
2--
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPH1p.W128*
Nonsense
SNP
0.539
1Loss-
BSPRY-
-
-
-
3Gain-
BTBD2-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTN3A2p.Q318*
Nonsense
SNP
1.000
2--
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUD13p.A611V
Missense
SNP
0.552
2--
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C10orf11p.K124R
Missense
SNP
0.404
NDND-
C10orf2p.T58I
Missense
SNP
0.489
NDND-
C10orf54p.P255L
Missense
SNP
0.472
NDND-
C10orf67p.H452Y
Missense
SNP
0.438
2--
C11orf40p.E37D
Missense
SNP
0.623
2--
C12orf42p.P206S
Missense
SNP
0.203
2--
C12orf74p.D94N
Missense
SNP
0.192
NDND-
C14orf177p.R110*
Nonsense
SNP
0.472
2--
C14orf93p.N318K
Missense
SNP
0.498
2--
C16orf46p.G201C
Missense
SNP
0.402
2--
C17orf100-
-
-
-
1Loss-
C17orf105p.W98*
Nonsense
SNP
0.251
NDND-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C19orf18p.E172K
Missense
SNP
0.660
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf44p.L40F
Missense
SNP
0.505
2--
C19orf48-
-
-
-
1Loss-
C19orf54p.T269M
Missense
SNP
0.599
2--
C19orf66p.P104S
Missense
SNP
0.557
2--
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1GALT1C1p.G211E
Missense
SNP
1.000
NDND-
C1orf100-
-
-
-
3Gain-
C1orf127p.P463F
Missense
MNP
0.477
2--
C1orf185p.Q45K
Missense
SNP
0.171
2--
C1orf216p.P139H
Missense
SNP
0.576
2--
C1QBP-
-
-
-
1Loss-
C1QTNF1p.Q31*
Nonsense
SNP
0.262
2--
C1QTNF9Bp.G80E
Missense
SNP
0.341
2--
C20orf194p.E984Q
Missense
SNP
0.150
2--
C21orf2p.H250R
Missense
SNP
0.485
NDND-
C2CD4C-
-
-
-
1Loss-
C2orf16p.E1157K
Missense
SNP
0.538
2--
C2orf50p.E74K
Missense
SNP
0.486
2--
C2orf71p.P1206L
p.W1001*
p.V581I
Missense
Nonsense
Missense
SNP
SNP
SNP
0.456
0.469
0.541
NDND-
C2orf78-
-
-
-
1Loss-
C2orf81-
-
-
-
1Loss-
C3p.R1320Q
Missense
SNP
0.750
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf36p.A45P
Missense
SNP
0.295
NDND-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
3Gain-
C4orf17p.P258Y
Missense
MNP
0.700
2--
C4orf47-
-
-
-
1Loss-
C5-
-
-
-
3Gain-
C5AR1p.I111L
Missense
SNP
0.563
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf42p.P2571L
Missense
SNP
0.560
NDND-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf51p.L37I
Missense
SNP
0.606
2--
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C6orf118p.G88K
Missense
MNP
0.586
2--
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8G-
-
-
-
3Gain-
C8orf33-
-
-
-
6Amp-
C8orf34p.E256K
Missense
SNP
0.270
5Amp-
C8orf37-
-
-
-
5Amp-
C8orf44-
-
-
-
5Amp-
C8orf59-
-
-
-
5Amp-
C8orf76-
-
-
-
5Amp-
C8orf82-
-
-
-
6Amp-
C8orf88-
-
-
-
5Amp-
C8orf89-
-
-
-
5Amp-
C9orf116-
-
-
-
3Gain-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
1Loss-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
1Loss-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
5Amp-
CA11-
-
-
-
1Loss-
CA13-
-
-
-
5Amp-
CA2-
-
-
-
5Amp-
CA3-
-
-
-
5Amp-
CA5Ap.P214S
Missense
SNP
0.273
2--
CA8-
-
-
-
5Amp-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABP5-
-
-
-
1Loss-
CACFD1-
-
-
-
3Gain-
CACHD1p.D412N
Missense
SNP
0.551
2--
CACNA1Ap.W1757*
p.M1251I
Nonsense
Missense
SNP
SNP
0.488
0.477
2--
CACNA1B-
-
-
-
3Gain-
CACNA1D-
-
-
-
1Loss-
CACNA1Gp.P668L
Missense
SNP
0.251
2--
CACNA1Hp.G1173S
Missense
SNP
0.537
2--
CACNA1Sp.S891F
Missense
SNP
0.386
2--
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3p.E325K
Missense
SNP
0.298
1Loss-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CADp.R191*
Nonsense
SNP
0.497
2--
CADM2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CALB1-
-
-
-
5Amp-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1p.A51T
Missense
SNP
0.500
2--
CALM3-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK1-
-
-
-
1Loss-
CAMK1Gp.N394I
Missense
SNP
0.455
2--
CAMK2A-
-
-
-
1Loss-
CAMK2Bp.L478P
p.G23R
Missense
Missense
SNP
SNP
0.452
0.400
3Gain-
CAMK2N2-
-
-
-
3Gain-
CAMKK1p.S74F
Missense
SNP
0.721
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP1-
-
-
-
3Gain-
CAMSAP2p.L799F
Missense
SNP
0.552
2--
CAMSAP3-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2p.H201_S207delinsR
p.P554S
In_Frame_Del
Missense
DEL
SNP
0.586
0.641
1Loss-
CANX-
-
-
-
1Loss-
CAPN3p.T417M
Missense
SNP
0.197
2--
CAPN7-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD19-
-
-
-
3Gain-
CARD8-
-
-
-
1Loss-
CARD9-
-
-
-
3Gain-
CARM1p.H274Y
Missense
SNP
0.562
2--
CARMIL3p.R337*
Nonsense
SNP
0.485
2--
CARNMT1-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASKp.L328*
Nonsense
SNP
1.000
NDND-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
1Loss-
CASP8p.F124C
Missense
SNP
0.604
2--
CASP8AP2-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERGp.P477L
Missense
SNP
0.506
2--
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3p.D40N
Missense
SNP
0.268
1Loss-
CAVIN4-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLC-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CC2D2Ap.E1075K
Missense
SNP
0.561
2--
CCDC102Bp.K202E
Missense
SNP
0.479
2--
CCDC107-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC114-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC14-
-
-
-
3Gain-
CCDC141p.X694_splice
Splice_Site
SNP
0.515
2--
CCDC142-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC155-
-
-
-
1Loss-
CCDC166p.D186N
Missense
SNP
0.159
6Amp-
CCDC168p.P2781L
Missense
SNP
0.535
2--
CCDC171-
-
-
-
1Loss-
CCDC173p.P51S
Missense
SNP
0.429
2--
CCDC174-
-
-
-
1Loss-
CCDC180p.R1186K
Missense
SNP
0.366
3Gain-
CCDC183-
-
-
-
3Gain-
CCDC191p.R203C
Missense
SNP
0.716
3Gain-
CCDC27p.D238N
Missense
SNP
0.370
2--
CCDC28Ap.X143_splice
Splice_Site
SNP
0.654
2--
CCDC36-
-
-
-
1Loss-
CCDC39p.E791K
Missense
SNP
0.643
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
3Gain-
CCDC57p.E248K
Missense
SNP
0.734
2--
CCDC58-
-
-
-
3Gain-
CCDC61-
-
-
-
1Loss-
CCDC63p.K329R
p.P479L
p.P501L
Missense
Missense
Missense
SNP
SNP
SNP
0.571
0.640
0.379
2--
CCDC66-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC71p.A283V
Missense
SNP
0.404
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC8-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC88Ap.E846K
Missense
SNP
0.471
2--
CCDC88Bp.E275K
p.P1306F
Missense
Missense
SNP
MNP
0.365
0.460
2--
CCDC9-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCL26-
-
-
-
3Gain-
CCL27-
-
-
-
1Loss-
CCM2-
-
-
-
3Gain-
CCNB3p.S502F
Missense
SNP
1.000
NDND-
CCND2p.I287N
Missense
SNP
0.580
2--
CCNE2-
-
-
-
5Amp-
CCNG1-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCPG1p.V417A
Missense
SNP
0.436
2--
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT5p.E10*
p.R27C
Nonsense
Missense
SNP
SNP
0.449
0.500
2--
CCT6A-
-
-
-
3Gain-
CCT8L2p.G427E
Missense
SNP
0.455
2--
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD14p.H340Y
Missense
SNP
0.368
1Loss-
CD163p.S366Lfs*8
Frame_Shift_Del
DEL
0.358
2--
CD163L1p.W249*
Nonsense
SNP
0.460
2--
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD209-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD28p.G70E
Missense
SNP
0.431
2--
CD2APp.E140K
Missense
SNP
0.317
2--
CD300LGp.W274*
Nonsense
SNP
0.765
2--
CD33-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD3EAP-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD48p.W121*
Nonsense
SNP
0.394
2--
CD53.
Splice_Site
SNP
0.469
2--
CD68-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD80-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25Cp.S198F
Missense
SNP
0.346
1Loss-
CDC26-
-
-
-
3Gain-
CDC27p.P360S
Missense
SNP
0.213
2--
CDC34-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42BPBp.A614V
Missense
SNP
0.510
2--
CDC42EP5p.G126E
Missense
SNP
0.394
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDH11p.P684L
p.P410S
p.V402A
Missense
Missense
Missense
SNP
SNP
SNP
0.642
0.487
0.524
2--
CDH17-
-
-
-
5Amp-
CDH19p.G73E
Missense
SNP
0.415
2--
CDH6p.T308K
Missense
SNP
0.538
2--
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDHR5p.T437M
Missense
SNP
0.502
2--
CDK11Bp.X614_splice
Splice_Site
SNP
0.440
2--
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK20-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5RAP2p.V1676L
Missense
SNP
0.612
3Gain-
CDK6-
-
-
-
3Gain-
CDK9-
-
-
-
3Gain-
CDKL2p.Q298*
Nonsense
SNP
0.147
2--
CDKL3-
-
-
-
1Loss-
CDKL5p.G713D
Missense
SNP
1.000
NDND-
CDKN2Ap.R58*
Nonsense
SNP
1.000
1Loss-
CDKN2AIPp.H158Y
Missense
SNP
0.544
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDSNp.V377Sfs*89
Frame_Shift_Del
DEL
0.938
2--
CDV3-
-
-
-
3Gain-
CDX1-
-
-
-
1Loss-
CDX4p.P105L
Missense
SNP
1.000
NDND-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20p.R130Q
Missense
SNP
0.495
2--
CEACAM21p.P283S
Missense
SNP
0.461
2--
CEACAM4p.P193L
Missense
SNP
0.519
2--
CEBPD-
-
-
-
5Amp-
CECR6p.S167F
Missense
SNP
0.494
NDND-
CEL-
-
-
-
3Gain-
CELF5p.P268F
Missense
MNP
0.313
1Loss-
CELSR3p.P1901L
p.E444K
Missense
Missense
SNP
SNP
0.231
0.251
1Loss-
CEMIP2-
-
-
-
3Gain-
CENPFp.R234K
Missense
SNP
0.432
2--
CENPP-
-
-
-
3Gain-
CENPTp.R40K
Missense
SNP
0.626
2--
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP112p.E583K
Missense
SNP
0.125
2--
CEP120-
-
-
-
1Loss-
CEP131p.R155W
Missense
SNP
0.801
2--
CEP170p.A938T
Missense
SNP
0.601
3Gain-
CEP170Bp.G197R
p.Q453*
Missense
Nonsense
SNP
SNP
0.418
0.455
2--
CEP19-
-
-
-
3Gain-
CEP250p.S1310F
Missense
SNP
0.540
2--
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP78-
-
-
-
3Gain-
CEP89p.E342K
Missense
SNP
0.446
2--
CEP97-
-
-
-
3Gain-
CER1-
-
-
-
1Loss-
CERCAM-
-
-
-
3Gain-
CERS1-
-
-
-
1Loss-
CES1p.V136M
Missense
SNP
0.281
2--
CES4Ap.G77E
Missense
SNP
0.703
2--
CES5Ap.E386K
Missense
SNP
0.601
2--
CETPp.A336T
Missense
SNP
0.528
2--
CFAP100-
-
-
-
3Gain-
CFAP157-
-
-
-
3Gain-
CFAP44-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP54p.R360K
p.R901K
Missense
Missense
SNP
SNP
0.560
0.181
2--
CFAP58p.M759I
Missense
SNP
0.496
2--
CFAP69-
-
-
-
3Gain-
CFAP77-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFHR1p.R314Q
Missense
SNP
0.608
2--
CFHR4p.D424N
Missense
SNP
0.402
2--
CFTRp.L889F
Missense
SNP
0.514
3Gain-
CGB3-
-
-
-
1Loss-
CGB5-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHAF1Ap.H476L
Missense
SNP
0.621
1Loss-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHCHD7-
-
-
-
5Amp-
CHD1p.D1657Y
Missense
SNP
0.493
2--
CHD3-
-
-
-
1Loss-
CHD7-
-
-
-
5Amp-
CHDH-
-
-
-
1Loss-
CHEK2p.D6N
Missense
SNP
0.576
2--
CHKAp.P201S
Missense
SNP
0.571
2--
CHL1-
-
-
-
1Loss-
CHML-
-
-
-
3Gain-
CHMP2A-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP4C-
-
-
-
5Amp-
CHMP5-
-
-
-
1Loss-
CHMP6p.A133V
Missense
SNP
0.667
2--
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
5Amp-
CHRD-
-
-
-
3Gain-
CHRM2p.W422*
Nonsense
SNP
0.997
3Gain-
CHRM3p.G219R
p.G272E
Missense
Missense
SNP
SNP
0.344
0.615
3Gain-
CHRM5p.A102S
p.S414L
Missense
Missense
SNP
SNP
0.488
0.479
2--
CHRNA4p.E31K
Missense
SNP
0.615
2--
CHRNB1-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHST8p.N48S
Missense
SNP
0.573
2--
CHSY3p.P483L
Missense
SNP
0.323
1Loss-
CHTF18p.G39R
Missense
SNP
0.324
2--
CIDEC-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIP2A-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CITp.P1346L
Missense
SNP
0.636
2--
CITED2p.P214R
Missense
SNP
0.385
2--
CIZ1-
-
-
-
3Gain-
CKAP4p.S275F
Missense
SNP
0.571
2--
CKM-
-
-
-
1Loss-
CKS2-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLCA1p.P752L
Missense
MNP
0.615
2--
CLCN1-
-
-
-
3Gain-
CLCN2p.A479V
Missense
SNP
0.328
3Gain-
CLCN3p.G37R
Missense
SNP
0.270
2--
CLCN6p.R735W
Missense
SNP
0.538
2--
CLCNKBp.E225K
Missense
SNP
0.438
2--
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18p.G198C
Missense
SNP
0.311
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLDND2-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3B-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLIC3-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP2-
-
-
-
3Gain-
CLIP4p.E410K
Missense
SNP
0.506
2--
CLK4-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLSTN1p.G19E
Missense
SNP
0.423
2--
CLSTN2-
-
-
-
3Gain-
CLTAp.P186F
Missense
MNP
1.000
1Loss-
CLTB-
-
-
-
1Loss-
CLUHp.X831_splice
Splice_Site
SNP
0.676
1Loss-
CLVS1-
-
-
-
5Amp-
CMC1-
-
-
-
1Loss-
CMSS1-
-
-
-
3Gain-
CMTM1p.S132F
Missense
SNP
0.428
2--
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5p.E100D
p.E1984K
p.S2145F
p.P3846L
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.540
0.449
0.513
0.588
2--
CNBD1p.P412L
Missense
SNP
0.210
5Amp-
CNBP-
-
-
-
3Gain-
CNGA2p.G339R
Missense
SNP
1.000
NDND-
CNGB3-
-
-
-
5Amp-
CNN2-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT3-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4p.G367R
p.N893I
Missense
Missense
SNP
SNP
0.571
0.725
1Loss-
CNTN5p.P740L
Missense
SNP
0.500
2--
CNTN6p.R172Q
Missense
SNP
0.312
1Loss-
CNTNAP2p.M442I
Missense
SNP
1.000
3Gain-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
1Loss-
CNTRLp.E1681*
Nonsense
SNP
0.287
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COBLp.G897N
Missense
MNP
0.496
3Gain-
COG3p.E182K
Missense
SNP
0.565
2--
COG5-
-
-
-
3Gain-
COL11A1p.P474Qfs*20
p.P1536T
p.E917K
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.095
0.357
0.328
2--
COL14A1-
-
-
-
5Amp-
COL15A1-
-
-
-
3Gain-
COL19A1p.P423L
p.G424R
p.G992R
Missense
Missense
Missense
MNP
SNP
SNP
0.565
0.429
0.422
2--
COL1A2p.X1000_splice
p.P1212S
Splice_Site
Missense
SNP
SNP
0.568
0.429
3Gain-
COL20A1p.G579D
Missense
SNP
0.518
2--
COL22A1p.G1216E
p.G1150R
p.E959K
Missense
Missense
Missense
SNP
SNP
SNP
0.241
0.729
0.237
5Amp-
COL23A1-
-
-
-
1Loss-
COL24A1p.G206E
Missense
SNP
0.459
2--
COL26A1-
-
-
-
3Gain-
COL27A1p.P85S
Missense
SNP
0.340
3Gain-
COL28A1-
-
-
-
3Gain-
COL3A1p.A950G
p.P1040S
Missense
Missense
SNP
SNP
0.340
0.590
2--
COL4A2p.P75Q
p.P473L
p.P1424S
Missense
Missense
Missense
SNP
SNP
SNP
0.356
0.556
0.642
2--
COL4A3p.L1605Q
Missense
SNP
0.568
2--
COL4A4p.G1334R
p.Q1022*
p.P419L
Missense
Nonsense
Missense
SNP
SNP
SNP
0.419
0.453
0.562
2--
COL5A1-
-
-
-
3Gain-
COL5A3p.P1014L
p.G692E
Missense
Missense
SNP
SNP
0.512
0.500
2--
COL6A3p.C14R
Missense
SNP
0.513
2--
COL6A5p.G375E
p.G1428R
Missense
Missense
SNP
SNP
0.725
0.240
3Gain-
COL6A6p.R804Q
Missense
SNP
0.277
3Gain-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
3Gain-
COL9A1p.P895S
p.G736S
Missense
Missense
SNP
SNP
0.322
0.636
2--
COL9A2p.D443Y
Missense
SNP
0.322
2--
COLEC10-
-
-
-
5Amp-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD5-
-
-
-
6Amp-
COMP-
-
-
-
1Loss-
COPAp.R726C
Missense
SNP
0.565
2--
COPB2-
-
-
-
3Gain-
COPE-
-
-
-
1Loss-
COPG1-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS5-
-
-
-
5Amp-
COPS6-
-
-
-
3Gain-
COQ4-
-
-
-
3Gain-
CORO2A-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX6C-
-
-
-
5Amp-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
5Amp-
CPB1-
-
-
-
3Gain-
CPEB2p.P895L
Missense
SNP
0.569
2--
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE1p.G478E
Missense
SNP
0.513
2--
CPNE3-
-
-
-
5Amp-
CPNE4-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPQ-
-
-
-
5Amp-
CPSF1-
-
-
-
6Amp-
CPSF4-
-
-
-
3Gain-
CPT1Cp.S396F
Missense
SNP
0.563
1Loss-
CPVL-
-
-
-
3Gain-
CR1p.W2283*
Nonsense
MNP
0.502
2--
CRAT-
-
-
-
3Gain-
CRB2-
-
-
-
3Gain-
CRB3-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CREB3-
-
-
-
1Loss-
CREB3L2-
-
-
-
3Gain-
CREB3L3p.P341L
Missense
SNP
0.679
1Loss-
CREB5-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRH-
-
-
-
5Amp-
CRHR2-
-
-
-
3Gain-
CRIP2p.G52E
Missense
SNP
0.618
2--
CRISPLD1p.W99L
Missense
SNP
0.724
5Amp-
CRK-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRLF3p.D160N
Missense
SNP
0.737
2--
CRMP1p.P637L
Missense
SNP
0.382
2--
CROT-
-
-
-
3Gain-
CRPp.D34N
Missense
SNP
0.607
2--
CRTAMp.E340K
Missense
SNP
0.506
2--
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRXp.D130N
Missense
SNP
0.355
1Loss-
CRY2p.X11_splice
Splice_Site
SNP
0.459
2--
CRYBG3p.G2584E
Missense
SNP
0.294
3Gain-
CRYGN-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CSF1R-
-
-
-
1Loss-
CSF2p.F120C
Missense
SNP
0.650
1Loss-
CSF2RBp.P313L
Missense
SNP
0.370
2--
CSMD1p.P491S
p.E241G
Missense
Missense
SNP
SNP
0.425
0.362
2--
CSMD2p.P232L
Missense
SNP
0.389
2--
CSMD3p.E2491K
p.W2486*
Missense
Nonsense
SNP
SNP
0.165
0.174
5Amp-
CSNK1A1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A2p.L250V
Missense
SNP
0.364
2--
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
5Amp-
CSRNP1-
-
-
-
1Loss-
CST1p.C94S
Missense
SNP
0.380
2--
CSTA-
-
-
-
3Gain-
CSTF3p.E468K
p.L105F
Missense
Missense
SNP
SNP
0.492
0.505
2--
CT47B1p.E238K
Missense
SNP
1.000
NDND-
CTAGE15-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTC-260F20.3p.A136V
Missense
SNP
0.609
NDND-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1p.P763L
Missense
SNP
0.564
2--
CTDSPLp.P93L
Missense
SNP
0.373
1Loss-
CTHRC1-
-
-
-
5Amp-
CTNNA1-
-
-
-
1Loss-
CTNNA2p.G100C
p.R760C
Missense
Missense
SNP
SNP
0.464
0.485
2--
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTSAp.P132L
p.L391F
Missense
Missense
SNP
SNP
0.677
0.514
2--
CTSL-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL9p.S1733N
Missense
SNP
0.340
2--
CUX1p.P936L
Missense
SNP
0.511
3Gain-
CUX2p.P385S
Missense
SNP
0.561
2--
CWH43-
-
-
-
3Gain-
CX3CR1-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR1p.R313C
Missense
SNP
0.522
2--
CXCR2p.R322C
Missense
SNP
0.513
2--
CXCR6-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1p.Q217*
Nonsense
SNP
0.582
2--
CYC1-
-
-
-
6Amp-
CYCS-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYHR1-
-
-
-
6Amp-
CYLC2-
-
-
-
3Gain-
CYP11B1-
-
-
-
6Amp-
CYP11B2-
-
-
-
6Amp-
CYP1A1p.E369K;p.M368I
Missense
MNP
0.520
2--
CYP24A1p.R386K
Missense
SNP
0.579
2--
CYP2A6p.G74E
Missense
SNP
0.527
2--
CYP2B6p.A279T
Missense
SNP
0.278
2--
CYP2J2p.R371K
Missense
SNP
0.518
2--
CYP2W1p.P39R
Missense
SNP
0.382
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5p.T310N
Missense
SNP
0.451
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP4A11p.D517N
p.D293H
Missense
Missense
SNP
SNP
0.423
0.259
2--
CYP4A22p.G439S
p.G501R
Missense
Missense
SNP
SNP
0.542
0.450
2--
CYP4F2p.P279S
Missense
SNP
0.517
2--
CYP4F22p.D455N
Missense
SNP
0.538
2--
CYP4V2-
-
-
-
1Loss-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
5Amp-
CYP7B1-
-
-
-
5Amp-
CYP8B1-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYSLTR2p.S7F
Missense
SNP
0.432
2--
CYSRT1-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH2-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
DAB2IP-
-
-
-
3Gain-
DACT1p.G369E
p.G631E
Missense
Missense
SNP
SNP
0.519
0.522
2--
DACT3p.D66N
Missense
SNP
0.489
1Loss-
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAPK1p.G772E
Missense
SNP
0.326
3Gain-
DAPK3-
-
-
-
1Loss-
DAZAP1p.E93K
Missense
SNP
0.667
1Loss-
DAZL-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBH-
-
-
-
3Gain-
DBN1-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DBP-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DBTp.K222*
p.E148K
Nonsense
Missense
SNP
SNP
0.527
0.555
2--
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF13p.G81E
p.W346*
Missense
Nonsense
SNP
SNP
0.259
0.197
5Amp-
DCAF4L2-
-
-
-
5Amp-
DCANP1p.G71E
Missense
SNP
0.631
1Loss-
DCBLD2-
-
-
-
3Gain-
DCCp.E278K
Missense
SNP
0.503
2--
DCHS2p.D2626N
p.H2144Y
Missense
Missense
SNP
SNP
0.331
0.761
2--
DCLK1p.E454K
Missense
SNP
0.510
2--
DCLK3p.R291*
Nonsense
SNP
0.323
1Loss-
DCP1A-
-
-
-
1Loss-
DCSTAMP-
-
-
-
5Amp-
DCTD-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN3-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDHD2p.G87V
Missense
SNP
0.406
2--
DDI1p.E383K
Missense
SNP
0.370
2--
DDIASp.P347L
Missense
SNP
0.437
2--
DDX31p.R72K
Missense
SNP
0.589
3Gain-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
1Loss-
DDX60Lp.L1576F
Missense
SNP
0.258
2--
DEC1-
-
-
-
3Gain-
DECR1-
-
-
-
5Amp-
DELE1-
-
-
-
1Loss-
DENND1A-
-
-
-
3Gain-
DENND1C-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
6Amp-
DENND4Bp.S1106F
Missense
SNP
0.436
2--
DENND4C-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC4p.G187R
p.G137E
Missense
Missense
SNP
SNP
0.469
0.377
2--
DEPTOR-
-
-
-
5Amp-
DERL1-
-
-
-
5Amp-
DERL2-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DGAT1-
-
-
-
6Amp-
DGKB-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKHp.A537V
Missense
SNP
0.391
2--
DGKI-
-
-
-
3Gain-
DGUOK-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHRS7C-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX34p.P617S
p.P1036L
Missense
Missense
SNP
SNP
0.518
0.602
1Loss-
DHX36-
-
-
-
3Gain-
DHX37p.P1055S
Missense
SNP
0.483
2--
DIAPH1-
-
-
-
1Loss-
DIDO1p.P1848S
Missense
SNP
0.372
2--
DIP2Bp.P690L
Missense
SNP
0.620
2--
DIRAS1-
-
-
-
1Loss-
DIRAS2p.D179N
p.G120E
Missense
Missense
SNP
SNP
0.663
0.359
3Gain-
DIRC2-
-
-
-
3Gain-
DISC1p.S100F
Missense
SNP
0.558
2--
DISP2p.E479K
p.G1154E
Missense
Missense
SNP
SNP
0.472
0.583
2--
DKKL1-
-
-
-
1Loss-
DLC1p.A767V
p.G34E
Missense
Missense
SNP
SNP
0.327
0.407
2--
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG4p.G462E
Missense
SNP
0.694
1Loss-
DLX5p.Q148*
Nonsense
SNP
0.512
3Gain-
DLX6-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMP1p.E464K
Missense
SNP
0.690
2--
DMPK-
-
-
-
1Loss-
DMRT1p.M233I
Missense
SNP
1.000
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMWDp.P483L
Missense
MNP
0.603
1Loss-
DMXL1p.R2769*
Nonsense
SNP
0.672
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH10OSp.G119K
Missense
MNP
0.528
NDND-
DNAH11p.S2370L
p.R3064K
p.P3283L
Missense
Missense
Missense
SNP
SNP
SNP
0.524
0.432
0.492
3Gain-
DNAH12p.D1492N
p.G130E
Missense
Missense
SNP
SNP
0.297
0.254
1Loss-
DNAH14p.G2611E
Missense
SNP
0.431
2--
DNAH17p.P3994L
Missense
SNP
0.168
2--
DNAH2p.R2523*
p.S2560F
Nonsense
Missense
SNP
SNP
0.350
0.294
1Loss-
DNAH5p.G3206E
p.R665K
Missense
Missense
SNP
SNP
0.456
0.451
2--
DNAH7p.R2099Q
Missense
SNP
0.579
2--
DNAH8p.S4320L
Missense
SNP
0.590
2--
DNAH9p.P968S
Missense
SNP
0.714
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB5-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB8-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC13-
-
-
-
3Gain-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5B-
-
-
-
5Amp-
DNAJC7p.M205I
Missense
SNP
0.212
2--
DNALI1p.E89K
Missense
SNP
0.459
2--
DNASE1L3-
-
-
-
1Loss-
DNASE2p.P305S
Missense
SNP
0.500
2--
DND1-
-
-
-
1Loss-
DNERp.L468P
Missense
SNP
0.448
2--
DNLZ-
-
-
-
3Gain-
DNM1-
-
-
-
3Gain-
DNMT3Ap.P709L
Missense
SNP
0.447
2--
DOC2B-
-
-
-
1Loss-
DOCK11p.D1389N
Missense
SNP
1.000
NDND-
DOCK2p.E1614Q
Missense
SNP
0.060
1Loss-
DOCK3p.R285K
Missense
SNP
0.318
1Loss-
DOCK4p.L1237F
p.G1045D
Missense
Missense
SNP
SNP
0.560
0.514
3Gain-
DOCK8-
-
-
-
1Loss-
DOCK9p.G1788R
Missense
SNP
0.497
2--
DOHH-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DOPEY1p.P536F
Missense
MNP
0.492
NDND-
DOPEY2p.Q624H
Missense
SNP
0.263
NDND-
DOT1L-
-
-
-
1Loss-
DPEP3p.G207S
Missense
SNP
0.371
2--
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH7-
-
-
-
3Gain-
DPM2-
-
-
-
3Gain-
DPP10p.G397E
Missense
SNP
0.429
2--
DPP6-
-
-
-
3Gain-
DPP7-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPRX-
-
-
-
1Loss-
DPTp.M100I
Missense
SNP
0.529
2--
DPY19L1p.S654F
Missense
SNP
0.482
3Gain-
DPY19L2p.G237E
Missense
SNP
0.467
2--
DPY19L4-
-
-
-
5Amp-
DPYS-
-
-
-
5Amp-
DPYSL3-
-
-
-
1Loss-
DQX1p.S275F
Missense
SNP
0.273
1Loss-
DRC1p.F362L
Missense
SNP
0.392
2--
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRG2-
-
-
-
1Loss-
DSC2p.Q465*
Nonsense
SNP
0.463
2--
DSCAML1p.E267K
Missense
SNP
0.508
2--
DSCC1-
-
-
-
5Amp-
DSELp.P777L
p.V510L
Missense
Missense
SNP
SNP
0.559
0.445
2--
DSG2p.S363L
p.L1023F
Missense
Missense
SNP
SNP
0.235
0.466
2--
DTHD1p.D672N
Missense
SNP
0.510
2--
DTNAp.R166Q
Missense
SNP
0.500
2--
DTNBp.S86F
Missense
SNP
0.533
2--
DTWD1p.P142S
Missense
SNP
0.413
2--
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTX3L-
-
-
-
3Gain-
DUOX2p.R1110L
Missense
SNP
0.524
2--
DUS3L-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
1Loss-
DUSP22p.T105I
Missense
SNP
0.332
2--
DUSP7-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYNC1H1p.S2681F
Missense
SNP
0.498
2--
DYNC1I1-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DZIP1Lp.P642L
Missense
SNP
0.204
3Gain-
DZIP3-
-
-
-
3Gain-
E2F5-
-
-
-
5Amp-
E2F7p.E392K
Missense
SNP
0.291
2--
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EBAG9-
-
-
-
5Amp-
EBF1-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
EDEM1-
-
-
-
1Loss-
EDF1-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1D-
-
-
-
6Amp-
EEF2p.P810F
Missense
MNP
0.230
1Loss-
EEFSEC-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
5Amp-
EFCAB10-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB5p.P832L
Missense
SNP
0.784
2--
EFCAB8p.G281K
Missense
MNP
0.582
2--
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
3Gain-
EFHBp.K206*
Nonsense
SNP
0.272
1Loss-
EFHC2p.Q224*
Nonsense
SNP
1.000
NDND-
EFNA2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
5Amp-
EGFp.G344E
Missense
SNP
0.370
2--
EGFL7p.S226L
Missense
SNP
0.472
3Gain-
EGFL8p.E205K
Missense
SNP
0.993
2--
EGFR-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EGR2p.G275D
Missense
SNP
0.511
2--
EHBP1p.A1203V
Missense
SNP
0.494
2--
EHD2-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EHMT1-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3E-
-
-
-
5Amp-
EIF3H-
-
-
-
5Amp-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4G1p.Q217*
Nonsense
SNP
0.274
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
EIF5Bp.L838F
Missense
SNP
0.515
2--
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL3p.G19D
Missense
SNP
0.476
2--
ELFN1-
-
-
-
3Gain-
ELL-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOC-
-
-
-
5Amp-
ELOVL7p.X131_splice
Splice_Site
SNP
0.340
2--
ELP1-
-
-
-
3Gain-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
ELSPBP1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC2-
-
-
-
5Amp-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMILIN3p.A416T
Missense
SNP
0.373
2--
EML2-
-
-
-
1Loss-
EML4p.G377S
Missense
SNP
0.349
2--
EML5p.G225E
Missense
SNP
0.595
2--
EMP3-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENDOG-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENGASEp.P149S
Missense
SNP
0.741
2--
ENHO-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOX1p.R297W
Missense
SNP
0.439
2--
ENPP2-
-
-
-
5Amp-
ENPP6-
-
-
-
1Loss-
ENTPD2-
-
-
-
3Gain-
ENTPD3-
-
-
-
1Loss-
ENTPD8-
-
-
-
3Gain-
ENTR1-
-
-
-
3Gain-
ENY2-
-
-
-
5Amp-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP400p.L1133F
Missense
SNP
0.466
2--
EPB41L3p.E447K
Missense
SNP
0.512
2--
EPB41L4B-
-
-
-
3Gain-
EPC2p.D395N
Missense
SNP
0.513
2--
EPDR1p.G141R
Missense
SNP
0.583
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA3-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHA7-
-
-
-
1Loss-
EPHA8p.L197F
Missense
SNP
0.459
2--
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
3Gain-
EPPK1-
-
-
-
6Amp-
EPRSp.G1475R
Missense
SNP
0.579
2--
EPS8L1p.M720I;p.E721K
Missense
MNP
0.396
2--
EPS8L3p.P236S
Missense
SNP
0.428
2--
EQTN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC1p.A214V
Missense
SNP
0.604
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC3p.K171N
Missense
SNP
0.531
2--
ERCC5p.E1135K
Missense
SNP
0.385
2--
ERCC6p.P221L
Missense
SNP
0.431
2--
ERCC6L2-
-
-
-
3Gain-
ERGIC1-
-
-
-
1Loss-
ERI3p.G44R
Missense
SNP
0.444
2--
ERICH3p.E474K
Missense
SNP
0.554
2--
ERICH5-
-
-
-
5Amp-
ERICH6p.E251K
Missense
SNP
0.714
3Gain-
ERLIN1p.L196F
Missense
SNP
0.384
2--
ERLIN2p.S12Y
Missense
SNP
0.535
2--
ERMP1-
-
-
-
1Loss-
ERP44-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESR1p.G20E
Missense
SNP
0.366
2--
ESRP1-
-
-
-
5Amp-
ESYT2-
-
-
-
3Gain-
ESYT3-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFB-
-
-
-
1Loss-
ETNPPLp.P225L
Missense
SNP
0.228
2--
ETV1-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
EVI5L-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXD3-
-
-
-
3Gain-
EXO1-
-
-
-
3Gain-
EXOC3L2-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
6Amp-
EXOSC7-
-
-
-
1Loss-
EXT1-
-
-
-
5Amp-
EYA1-
-
-
-
5Amp-
EYSp.P1631S
p.Q844H
Missense
Missense
SNP
SNP
0.555
0.411
2--
EZH2-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F12-
-
-
-
1Loss-
F13Bp.E394K
Missense
SNP
0.526
2--
FABP12-
-
-
-
5Amp-
FABP4-
-
-
-
5Amp-
FABP5-
-
-
-
5Amp-
FABP9-
-
-
-
5Amp-
FAF2-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM102A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM110B-
-
-
-
5Amp-
FAM114A2-
-
-
-
1Loss-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129B-
-
-
-
3Gain-
FAM131A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM134Cp.A266V
Missense
SNP
0.167
NDND-
FAM135Bp.E577K
p.S11L
Missense
Missense
SNP
SNP
0.177
0.281
5Amp-
FAM13B-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155Ap.S403L
Missense
SNP
0.318
2--
FAM160A2p.P729S
p.P728L
Missense
Missense
SNP
SNP
0.466
0.472
2--
FAM161Ap.R679K
Missense
SNP
0.568
2--
FAM162A-
-
-
-
3Gain-
FAM163B-
-
-
-
3Gain-
FAM166A-
-
-
-
3Gain-
FAM166B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM189A2-
-
-
-
3Gain-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM205A-
-
-
-
1Loss-
FAM205C-
-
-
-
1Loss-
FAM206A-
-
-
-
3Gain-
FAM208A-
-
-
-
1Loss-
FAM20C-
-
-
-
3Gain-
FAM214Bp.D164N
Missense
SNP
1.000
1Loss-
FAM217Bp.P221L
Missense
SNP
0.598
2--
FAM219A-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM3Dp.X108_splice
Splice_Site
SNP
0.696
1Loss-
FAM43A-
-
-
-
3Gain-
FAM49B-
-
-
-
5Amp-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM65Ap.E1068Q
Missense
SNP
0.413
NDND-
FAM69B-
-
-
-
3Gain-
FAM71Bp.G322E
p.P82S
Missense
Missense
SNP
SNP
0.270
0.683
1Loss-
FAM71E1-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM78A-
-
-
-
3Gain-
FAM81Ap.R188K
Missense
SNP
0.463
2--
FAM83A-
-
-
-
5Amp-
FAM83E-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83Hp.P627L
Missense
SNP
0.712
6Amp-
FAM84B-
-
-
-
5Amp-
FAM91A1p.V587G
Missense
SNP
0.200
5Amp-
FAM92A-
-
-
-
5Amp-
FAM92A1p.N171K
Missense
SNP
0.761
NDND-
FAM95C-
-
-
-
1Loss-
FAM9Bp.P31S
Missense
SNP
1.000
NDND-
FANCC-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCEp.S180F
Missense
SNP
0.610
2--
FANCG-
-
-
-
1Loss-
FAPp.G218R
Missense
SNP
0.505
2--
FASTK-
-
-
-
3Gain-
FAT1p.G3953N
p.D3414A
p.E3391K
Missense
Missense
Missense
MNP
SNP
SNP
0.398
0.597
0.400
1Loss-
FAT2-
-
-
-
1Loss-
FAT3p.D934N
p.Q1735E
Missense
Missense
SNP
SNP
0.449
0.274
2--
FAT4p.G3420E
p.G3932E
p.R4234Q
p.S4602L
p.P4693L
p.G4901E
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.315
0.580
0.328
0.630
0.338
0.295
2--
FAXDC2-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBN2p.G289R
Missense
SNP
0.271
1Loss-
FBN3p.G277R
Missense
SNP
0.494
2--
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBRSp.P119L
Missense
SNP
0.416
2--
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL5p.D398N
Missense
SNP
0.397
2--
FBXL6-
-
-
-
6Amp-
FBXO10p.S616N
Missense
SNP
1.000
1Loss-
FBXO2p.W282*
Nonsense
SNP
0.507
2--
FBXO24-
-
-
-
3Gain-
FBXO32-
-
-
-
5Amp-
FBXO33p.E74K
Missense
SNP
0.283
2--
FBXO38p.D546N
Missense
SNP
0.304
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
5Amp-
FBXO45-
-
-
-
3Gain-
FBXO46-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
3Gain-
FBXW5-
-
-
-
3Gain-
FCER2-
-
-
-
1Loss-
FCGBPp.E2242K
p.H479Y
Missense
Missense
SNP
SNP
0.329
0.505
2--
FCGR2Cp.S80F
Missense
SNP
0.385
2--
FCGR3Bp.X229_splice
Splice_Site
SNP
0.359
2--
FCGRT-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCN1-
-
-
-
3Gain-
FCN2p.P53S
Missense
SNP
1.000
3Gain-
FCRL2p.P201S
Missense
SNP
0.553
2--
FCRL3p.H512Y
Missense
SNP
0.383
2--
FCRL5p.P573S
p.S479F
Missense
Missense
SNP
SNP
0.635
0.500
2--
FCRL6p.M70I
Missense
SNP
0.576
2--
FEM1A-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER1L6p.R193K
Missense
SNP
0.239
5Amp-
FERD3Lp.G40R
Missense
SNP
0.581
3Gain-
FETUB-
-
-
-
3Gain-
FEZ2p.L225V
Missense
SNP
0.421
2--
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
1Loss-
FGAp.G358R
Missense
SNP
0.332
2--
FGD3-
-
-
-
3Gain-
FGD5-
-
-
-
1Loss-
FGD6p.N919I
Missense
SNP
0.560
2--
FGF1-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF18-
-
-
-
1Loss-
FGF21p.G112E
Missense
SNP
0.547
1Loss-
FGF22-
-
-
-
1Loss-
FGF3p.R44W
Missense
SNP
0.451
2--
FGFR4-
-
-
-
1Loss-
FGGp.*454Lext*5
Nonstop
SNP
0.829
2--
FGL2-
-
-
-
3Gain-
FH-
-
-
-
3Gain-
FHDC1p.R164*
Nonsense
SNP
0.600
2--
FHIT-
-
-
-
1Loss-
FHL5p.S230C
Missense
SNP
0.369
2--
FHOD3p.S129F
Missense
SNP
0.562
2--
FIBCD1-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FILIP1p.E517K;p.M516I
Missense
MNP
0.667
2--
FILIP1L-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP7p.P115S
Missense
SNP
0.526
2--
FKBP8-
-
-
-
1Loss-
FKBP9p.L562F
Missense
SNP
0.391
3Gain-
FKRP-
-
-
-
1Loss-
FKTN-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLGp.S1764F
p.R1110W
p.S742C
p.S702*
Missense
Missense
Missense
Nonsense
SNP
SNP
SNP
SNP
0.448
0.595
0.180
0.167
3Gain-
FLG2p.G2145R
Missense
SNP
0.440
3Gain-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLNCp.A32S
p.G1069S
p.E2452K
Missense
Missense
Missense
SNP
SNP
SNP
0.482
0.554
0.528
3Gain-
FLT3LG-
-
-
-
1Loss-
FLT4-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FMN2p.P897L
p.R1544Q
Missense
Missense
SNP
SNP
0.571
0.344
3Gain-
FMNL3p.K349T
Missense
SNP
0.357
2--
FN1p.E985K
Missense
SNP
0.467
2--
FNBP1-
-
-
-
3Gain-
FNDC1p.E595K
Missense
SNP
0.304
2--
FNDC3B-
-
-
-
3Gain-
FNDC5p.E118K
Missense
SNP
0.496
2--
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNIP2p.L1059P
Missense
SNP
0.699
2--
FOCAD-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOLR2p.D33N
Missense
SNP
0.558
2--
FOSB-
-
-
-
1Loss-
FOXA3-
-
-
-
1Loss-
FOXB2-
-
-
-
3Gain-
FOXD1p.P187S
Missense
SNP
0.433
2--
FOXD4L4-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXH1-
-
-
-
6Amp-
FOXI1-
-
-
-
1Loss-
FOXJ1p.H352Y
Missense
SNP
0.219
2--
FOXK1-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXN3p.P95S
Missense
SNP
0.513
2--
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXQ1p.S386*
Nonsense
SNP
1.000
2--
FOXR2p.G69E
Missense
SNP
1.000
NDND-
FPGS-
-
-
-
3Gain-
FPGT-TNNI3Kp.P284L
Missense
SNP
0.405
2--
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FRAS1p.P209L
Missense
SNP
0.656
2--
FRAT1p.E20K
Missense
SNP
0.344
2--
FREM1-
-
-
-
1Loss-
FREM3p.N1381K
Missense
SNP
0.649
2--
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2Cp.R173Q
Missense
SNP
0.407
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRMPD3p.G1137E
Missense
SNP
1.000
NDND-
FRRS1L-
-
-
-
3Gain-
FRYp.G989E
Missense
SNP
0.458
2--
FSBP-
-
-
-
5Amp-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSD1L-
-
-
-
3Gain-
FSHRp.R634C
Missense
SNP
0.503
2--
FSIP2p.S5693F
Missense
SNP
0.523
2--
FSTL1-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTOp.P427L
Missense
SNP
0.606
2--
FUBP3-
-
-
-
3Gain-
FUT1-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT7-
-
-
-
3Gain-
FUZ-
-
-
-
1Loss-
FXN-
-
-
-
3Gain-
FXR1-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FYBp.P594S
Missense
SNP
0.453
NDND-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD6-
-
-
-
5Amp-
FZD7p.E497K
Missense
SNP
0.580
2--
FZD9-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
G0S2p.D88Y
Missense
SNP
0.500
2--
G3BP1-
-
-
-
1Loss-
GAB3p.N41S
Missense
SNP
1.000
NDND-
GABARAP-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA2p.R112L
Missense
SNP
0.537
2--
GABRA5p.E358K
Missense
SNP
0.477
2--
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRPp.E345K
Missense
SNP
0.404
1Loss-
GABRQp.R316P
Missense
SNP
1.000
NDND-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GAD2p.G490E
Missense
SNP
0.521
2--
GADD45B-
-
-
-
1Loss-
GADD45G-
-
-
-
3Gain-
GADL1-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALK1p.S140F
Missense
SNP
0.753
2--
GALNT1p.E30K
Missense
SNP
0.476
2--
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT12-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNT7-
-
-
-
1Loss-
GALNTL5-
-
-
-
3Gain-
GALNTL6-
-
-
-
1Loss-
GALR2p.G374S
Missense
SNP
0.720
2--
GALT-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAPVD1p.P459S
p.P845S
Missense
Missense
SNP
SNP
0.333
1.000
3Gain-
GARNL3p.E925K
Missense
SNP
0.353
3Gain-
GARS-
-
-
-
3Gain-
GAS1-
-
-
-
3Gain-
GAS2p.G135S
Missense
SNP
0.548
2--
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATAD2A-
-
-
-
1Loss-
GATD3A-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBGT1-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCKRp.P311L
Missense
SNP
0.513
2--
GCN1p.S2142F
Missense
SNP
0.431
2--
GCNT1-
-
-
-
3Gain-
GCNT3p.L332F
Missense
SNP
0.435
2--
GCSAM-
-
-
-
3Gain-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDAp.E52K
Missense
SNP
0.192
3Gain-
GDAP1-
-
-
-
5Amp-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF6-
-
-
-
5Amp-
GDF9-
-
-
-
1Loss-
GEM-
-
-
-
5Amp-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFERp.D98N
Missense
SNP
0.480
2--
GFI1B-
-
-
-
3Gain-
GFM1p.P598T
Missense
SNP
0.691
3Gain-
GFPT2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFY-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGHp.M48I
Missense
SNP
0.095
5Amp-
GGT6-
-
-
-
1Loss-
GH1p.M196I
Missense
SNP
0.293
2--
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIGYF1p.E701K
Missense
SNP
0.495
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINS4p.P41S
Missense
SNP
0.563
2--
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA4p.P319L
Missense
SNP
0.327
2--
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GK5-
-
-
-
3Gain-
GKAP1-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L3p.X501_splice
p.E629K
Splice_Site
Missense
SNP
SNP
0.500
0.457
2--
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLE1-
-
-
-
3Gain-
GLI1p.P1063L
Missense
SNP
0.474
2--
GLI3p.S1551F
Missense
SNP
0.472
3Gain-
GLI4-
-
-
-
6Amp-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLOD4p.X278_splice
Splice_Site
SNP
0.200
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLT6D1-
-
-
-
3Gain-
GLT8D1p.R363K
Missense
SNP
0.615
1Loss-
GLTPD2-
-
-
-
1Loss-
GLTSCR1p.P1013S
Missense
SNP
0.300
NDND-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMEB2p.P368S
Missense
SNP
0.467
2--
GMIP-
-
-
-
1Loss-
GML-
-
-
-
6Amp-
GMNC-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GMPRp.X219_splice
Splice_Site
SNP
0.994
2--
GMPS-
-
-
-
3Gain-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAQ-
-
-
-
3Gain-
GNASp.E24K
Missense
SNP
0.339
2--
GNAT1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNB1Lp.G255E
Missense
SNP
0.419
2--
GNB2-
-
-
-
3Gain-
GNB4-
-
-
-
3Gain-
GNE-
-
-
-
1Loss-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA4-
-
-
-
1Loss-
GOLGB1p.L2319P
Missense
SNP
0.659
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLM1-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP2p.H221L
Missense
SNP
0.413
2--
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
6Amp-
GPC2-
-
-
-
3Gain-
GPC6p.E82K
Missense
SNP
0.394
2--
GPCPD1p.S431F
Missense
SNP
0.674
2--
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHNp.P196S
Missense
SNP
0.391
2--
GPIHBP1-
-
-
-
6Amp-
GPM6A-
-
-
-
1Loss-
GPNMB-
-
-
-
3Gain-
GPR107-
-
-
-
3Gain-
GPR108-
-
-
-
1Loss-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR149p.G294E
Missense
SNP
0.291
3Gain-
GPR15-
-
-
-
3Gain-
GPR151-
-
-
-
1Loss-
GPR156-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR176p.S432F
Missense
SNP
0.477
2--
GPR179p.P2229Q
Missense
SNP
0.179
2--
GPR20-
-
-
-
6Amp-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR32-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPRASP1p.D1250E
Missense
SNP
1.000
NDND-
GPRC5Bp.E390K
Missense
SNP
0.599
2--
GPRC5Dp.E307K
Missense
SNP
0.394
2--
GPRIN1-
-
-
-
1Loss-
GPRIN2p.R380G
Missense
SNP
0.139
2--
GPS2-
-
-
-
1Loss-
GPSM1p.P449L
Missense
SNP
1.000
3Gain-
GPT-
-
-
-
6Amp-
GPX1-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD1Ap.P200L
Missense
SNP
0.522
2--
GRAMD1C-
-
-
-
3Gain-
GRAMD2B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GREB1p.Q669H
Missense
SNP
0.542
2--
GREM2p.E51K
Missense
SNP
0.311
3Gain-
GRHL1p.S259L
Missense
SNP
0.545
2--
GRHL2-
-
-
-
5Amp-
GRHPRp.R99*
Nonsense
SNP
0.994
1Loss-
GRIA1-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1p.W135*
Nonsense
SNP
0.556
2--
GRIK2p.G486E
p.S885L
Missense
Missense
SNP
SNP
0.360
0.515
2--
GRIN1-
-
-
-
3Gain-
GRIN2Bp.T1358P
Missense
SNP
0.493
2--
GRIN2D-
-
-
-
1Loss-
GRIN3A-
-
-
-
3Gain-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
6Amp-
GRIP2-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM4p.R425C
Missense
SNP
1.000
2--
GRM6-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRM8p.R343Q
Missense
SNP
0.407
3Gain-
GRPEL2-
-
-
-
1Loss-
GRWD1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSDMC-
-
-
-
5Amp-
GSDMD-
-
-
-
6Amp-
GSDME-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSN-
-
-
-
3Gain-
GSTK1p.P275L
Missense
SNP
1.000
3Gain-
GTF2E1-
-
-
-
3Gain-
GTF2F1-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C4-
-
-
-
3Gain-
GTF3C5-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP8-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCY1A2p.D470N
Missense
SNP
0.466
2--
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GXYLT2p.D147Y
Missense
SNP
0.648
1Loss-
GYG1-
-
-
-
3Gain-
GYS1-
-
-
-
1Loss-
GYS2p.E36K
Missense
SNP
0.256
2--
GZMM-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FXp.P161S
Missense
SNP
0.720
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD2-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAPLN3p.S91N
Missense
SNP
0.523
2--
HAPLN4-
-
-
-
1Loss-
HARBI1p.H347Y
Missense
SNP
0.355
2--
HARSp.G298S
Missense
SNP
0.536
1Loss-
HARS2-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAS2-
-
-
-
5Amp-
HASPIN-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCLS1-
-
-
-
3Gain-
HCN1p.S599L
p.S56F
Missense
Missense
SNP
SNP
0.358
0.446
2--
HCN2-
-
-
-
1Loss-
HDAC1p.G219D
Missense
SNP
0.478
2--
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC4p.A245T
Missense
SNP
0.534
2--
HDAC5p.P228L
Missense
SNP
0.629
2--
HDAC9-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDHD3-
-
-
-
3Gain-
HEATR4p.E679K
Missense
SNP
0.494
2--
HEATR9p.D251N
Missense
SNP
0.713
2--
HECTD1p.P2216T
Missense
SNP
0.537
2--
HECW1-
-
-
-
3Gain-
HEG1-
-
-
-
3Gain-
HELT-
-
-
-
1Loss-
HELZp.R295C
Missense
SNP
0.729
2--
HEMGN-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HEPHp.G97R
Missense
SNP
1.000
NDND-
HEPHL1p.W866*
Nonsense
SNP
0.457
2--
HERPUD2-
-
-
-
3Gain-
HES1-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEY1-
-
-
-
5Amp-
HFM1p.P839T
Missense
SNP
0.579
2--
HGD-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
6Amp-
HHATL-
-
-
-
1Loss-
HHLA1-
-
-
-
5Amp-
HHLA2p.G203R
Missense
SNP
0.718
3Gain-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIST2H2ABp.P81L
Missense
SNP
0.418
2--
HIVEP3p.P17L
Missense
SNP
0.509
2--
HK3-
-
-
-
1Loss-
HLTF-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMCN2-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HNF4G-
-
-
-
5Amp-
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPCp.P116L
Missense
SNP
0.534
2--
HNRNPH1-
-
-
-
1Loss-
HNRNPKp.P354L
Missense
SNP
0.667
3Gain-
HNRNPU-
-
-
-
3Gain-
HOMER2p.S216F
Missense
SNP
0.481
2--
HOMER3-
-
-
-
1Loss-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB2p.V294D
Missense
SNP
0.192
2--
HOXD8p.P262S
Missense
SNP
0.588
2--
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HRASLS-
-
-
-
3Gain-
HRC-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST5p.E167*
Nonsense
SNP
0.575
2--
HSD11B1L-
-
-
-
1Loss-
HSD17B13p.P180S
Missense
SNP
0.309
2--
HSD17B14-
-
-
-
1Loss-
HSD17B3-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD3B2p.E142K
Missense
SNP
0.517
2--
HSDL2-
-
-
-
3Gain-
HSF1-
-
-
-
6Amp-
HSF5p.P15S
Missense
SNP
0.715
2--
HSPA4-
-
-
-
1Loss-
HSPA5-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPBAP1-
-
-
-
3Gain-
HSPG2p.T3290I
p.S2544F
p.G1905D
Missense
Missense
Missense
SNP
SNP
SNP
0.478
0.397
0.329
2--
HTD2-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTRA2-
-
-
-
1Loss-
HTTp.P2531L
Missense
SNP
0.582
2--
HUS1-
-
-
-
3Gain-
HUWE1p.D2630N
Missense
SNP
1.000
NDND-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
3Gain-
HYDINp.E4112K
p.E2544K
Missense
Missense
SNP
SNP
0.369
0.484
2--
HYOU1p.A225V
Missense
SNP
0.557
2--
IARS-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBTKp.S422*
p.T154I
Nonsense
Missense
SNP
SNP
0.647
0.643
2--
ICA1-
-
-
-
3Gain-
ICAM5p.P756S
Missense
SNP
0.548
2--
IDNK-
-
-
-
3Gain-
IER5L-
-
-
-
3Gain-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT140p.S986F
Missense
SNP
0.364
2--
IFT22-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IFT80-
-
-
-
3Gain-
IFT81p.R87C
Missense
SNP
0.601
2--
IGDCC3p.G700E
Missense
SNP
0.389
2--
IGF2BP2-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGF2Rp.S304F
p.P2198L
Missense
Missense
SNP
SNP
0.386
0.318
2--
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBPL1-
-
-
-
1Loss-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGHV3-20p.W72*
Nonsense
SNP
1.000
NDND-
IGHV3-49p.E2K
Missense
SNP
0.558
NDND-
IGHV3-66p.R57C
Missense
SNP
0.103
NDND-
IGIP-
-
-
-
1Loss-
IGLON5-
-
-
-
1Loss-
IGLV3-27p.P33S
Missense
SNP
0.458
NDND-
IGSF1p.P1248S
p.D941N
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF6-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKZF1-
-
-
-
3Gain-
IKZF3p.S378F
Missense
SNP
0.722
2--
IL11RAp.P247S
Missense
SNP
1.000
1Loss-
IL12A-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17REp.P572L
Missense
SNP
0.623
1Loss-
IL1RAP-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL2RAp.Q118*
Nonsense
SNP
0.537
2--
IL2RGp.G339E
Missense
SNP
1.000
NDND-
IL3-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL36Bp.S28F
Missense
SNP
0.531
2--
IL4-
-
-
-
1Loss-
IL4I1-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
5Amp-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
5Amp-
IMPAD1-
-
-
-
5Amp-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
INAFM1-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
INHBAp.S389L
Missense
SNP
0.444
3Gain-
INIP-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80B-
-
-
-
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INPP5Ep.H126Y
Missense
SNP
0.331
3Gain-
INPP5K-
-
-
-
1Loss-
INPPL1p.S1229N
Missense
SNP
0.437
2--
INSIG1-
-
-
-
3Gain-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2p.G63R
Missense
SNP
0.483
2--
INSR-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS8-
-
-
-
5Amp-
INVS-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO13p.S462F
Missense
SNP
0.389
2--
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
6Amp-
IQCB1-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IQUBp.P781L
p.S614F
Missense
Missense
SNP
SNP
0.566
0.252
3Gain-
IRAK2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRGM-
-
-
-
1Loss-
IRGQp.P548L
Missense
SNP
0.469
2--
IRS1p.G298E
Missense
SNP
0.447
2--
ISCA1-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ISYNA1p.E232K
Missense
SNP
0.433
1Loss-
ITFG1p.P144A
Missense
SNP
0.216
2--
ITGA10p.Q540*
p.P412S
Nonsense
Missense
SNP
SNP
0.582
0.467
2--
ITGA2Bp.S789F
p.G277E
Missense
Missense
SNP
SNP
0.228
0.750
2--
ITGA4p.W148*
Nonsense
SNP
0.443
2--
ITGA9-
-
-
-
1Loss-
ITGADp.D310N
Missense
SNP
0.396
2--
ITGAE-
-
-
-
1Loss-
ITGALp.X241_splice
Splice_Site
SNP
0.388
2--
ITGB3p.E78D
Missense
SNP
0.196
2--
ITGB5p.F190L
Missense
SNP
0.117
3Gain-
ITGB8-
-
-
-
3Gain-
ITIH1p.S363F
Missense
SNP
0.288
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5p.G216R
Missense
SNP
0.509
2--
ITIH6p.R421K
Missense
SNP
1.000
NDND-
ITK-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR2p.P338L
Missense
SNP
0.468
2--
ITPRID1-
-
-
-
3Gain-
ITPRIPp.P130S
Missense
SNP
0.526
2--
ITPRIPL1p.G111E
Missense
SNP
0.454
2--
ITSN2p.R1659*
p.P1108S
Nonsense
Missense
SNP
SNP
0.644
0.405
2--
IZUMO1-
-
-
-
1Loss-
IZUMO2-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK1p.D1039N
Missense
SNP
0.493
2--
JAK2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAMLp.G210R
Missense
SNP
0.481
2--
JAZF1-
-
-
-
3Gain-
JMJD8p.E222D
Missense
SNP
0.209
2--
JOSD2-
-
-
-
1Loss-
JPH1p.D389N
Missense
SNP
0.204
5Amp-
JPH3p.R216W
Missense
SNP
0.591
2--
JRK-
-
-
-
6Amp-
JSRP1-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KALRNp.P713L
Missense
SNP
0.208
3Gain-
KANK1-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNA4p.A341T
Missense
SNP
0.533
2--
KCNA5p.A566T
Missense
SNP
0.435
2--
KCNA6p.F28L
p.E129*
Missense
Nonsense
SNP
SNP
0.490
0.264
2--
KCNA7-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB2-
-
-
-
5Amp-
KCNC3-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNG4p.S408F
Missense
SNP
0.427
2--
KCNH2p.R541C
Missense
SNP
0.517
3Gain-
KCNH6p.T465K
Missense
SNP
0.232
2--
KCNH8p.E780K
Missense
SNP
0.706
1Loss-
KCNIP1p.G38E
Missense
SNP
0.725
1Loss-
KCNIP3p.F88L
Missense
SNP
0.504
2--
KCNJ14-
-
-
-
1Loss-
KCNJ8p.G417E
Missense
SNP
0.541
2--
KCNK15p.P265S
Missense
SNP
0.596
2--
KCNK18p.E305K
Missense
SNP
0.519
2--
KCNK9-
-
-
-
5Amp-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNMB4p.D139N
Missense
SNP
0.610
2--
KCNN2-
-
-
-
1Loss-
KCNQ1p.R583C
Missense
SNP
0.480
2--
KCNQ3p.E414K
Missense
SNP
0.252
5Amp-
KCNS2.
Splice_Site
SNP
0.246
5Amp-
KCNT1-
-
-
-
3Gain-
KCNT2p.D757N
p.G731R
p.G89E
Missense
Missense
Missense
SNP
SNP
SNP
0.556
0.449
0.524
2--
KCNV1-
-
-
-
5Amp-
KCNV2-
-
-
-
1Loss-
KCPp.P589L
Missense
SNP
0.418
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD4p.D56N
Missense
SNP
0.508
2--
KCTD6-
-
-
-
1Loss-
KCTD7-
-
-
-
3Gain-
KDELR1-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDF1p.E238K
Missense
SNP
0.556
2--
KDM3B-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM5Bp.P905L
Missense
SNP
0.546
2--
KDM5Cp.P701S
Missense
SNP
1.000
NDND-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDRp.P149L
Missense
SNP
0.361
2--
KEAP1p.R354Q
Missense
SNP
0.190
2--
KEL-
-
-
-
3Gain-
KHDRBS3-
-
-
-
5Amp-
KHSRP-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0895p.D420N
Missense
SNP
0.442
3Gain-
KIAA1024p.P377L
Missense
SNP
0.569
2--
KIAA1024L-
-
-
-
1Loss-
KIAA1109p.P1848S
Missense
SNP
0.270
2--
KIAA1143-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
1Loss-
KIAA1217p.R88Q
p.T815I
Missense
Missense
SNP
SNP
0.464
0.517
2--
KIAA1257-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1429p.P1667S
Missense
SNP
0.180
NDND-
KIAA1549p.F1114S
Missense
SNP
1.000
3Gain-
KIAA1614p.W327*
Nonsense
SNP
0.579
2--
KIAA1683p.A521T
Missense
SNP
0.296
NDND-
KIAA1958-
-
-
-
3Gain-
KIAA2026-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF21Bp.A904V
Missense
SNP
0.549
2--
KIF24-
-
-
-
1Loss-
KIF26Ap.P1177L
Missense
SNP
0.453
2--
KIF26B-
-
-
-
3Gain-
KIF27-
-
-
-
3Gain-
KIF2Bp.S104L
Missense
SNP
0.210
2--
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
6Amp-
KIR2DL1p.D78N
Missense
SNP
0.250
1Loss-
KIR2DL3-
-
-
-
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL2p.D387N
Missense
SNP
0.370
2--
KIR3DL3-
-
-
-
1Loss-
KIRREL2p.D68N
Missense
SNP
0.554
2--
KISS1R-
-
-
-
1Loss-
KLC3-
-
-
-
1Loss-
KLF10-
-
-
-
5Amp-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF4-
-
-
-
3Gain-
KLF7p.K299E
p.E46K
Missense
Missense
SNP
SNP
0.576
0.384
2--
KLF9-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC7Ap.W612*
Nonsense
SNP
0.408
2--
KLHDC8Ap.M312I
p.P45S
Missense
Missense
SNP
SNP
0.308
0.461
2--
KLHDC8Bp.E310K
Missense
SNP
0.342
1Loss-
KLHL11p.W534*
Nonsense
SNP
0.236
2--
KLHL18p.S285F
Missense
SNP
0.318
1Loss-
KLHL2p.D555N
Missense
SNP
0.307
2--
KLHL24-
-
-
-
3Gain-
KLHL25p.L22F
Missense
SNP
0.396
2--
KLHL26-
-
-
-
1Loss-
KLHL29p.K802Rfs*19
Frame_Shift_Ins
INS
0.283
2--
KLHL3-
-
-
-
1Loss-
KLHL38-
-
-
-
5Amp-
KLHL40-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLK1-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK15-
-
-
-
1Loss-
KLK2-
-
-
-
1Loss-
KLK3-
-
-
-
1Loss-
KLK4p.W8*
Nonsense
SNP
0.582
1Loss-
KLK5-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2Dp.P4082F
p.P3139L
p.Q429*
Missense
Missense
Nonsense
MNP
SNP
SNP
0.442
0.343
0.628
2--
KMT2E-
-
-
-
3Gain-
KNG1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRT1p.S338F
Missense
SNP
0.516
2--
KRT25p.G55R
Missense
SNP
0.179
2--
KRT3p.A449T
Missense
SNP
0.485
2--
KRT36p.E308K
Missense
SNP
0.844
2--
KRTAP10-12p.S241Y
Missense
SNP
0.460
2--
KRTAP13-3p.G16E
Missense
SNP
0.505
2--
KRTAP16-1p.T21A
Missense
SNP
0.770
2--
KRTAP19-7p.G20S
Missense
SNP
0.433
2--
KRTAP26-1p.L98F
Missense
SNP
0.435
2--
KRTAP4-5p.R32K
Missense
SNP
0.700
2--
KRTAP4-6p.R76K
Missense
SNP
0.731
2--
KXD1-
-
-
-
1Loss-
KY-
-
-
-
3Gain-
KYAT1-
-
-
-
3Gain-
L3MBTL1p.G111E
Missense
SNP
0.408
2--
LACTB2-
-
-
-
5Amp-
LAIR1p.Q17K
Missense
SNP
0.380
1Loss-
LAIR2-
-
-
-
1Loss-
LAMA1p.G1589R
Missense
SNP
0.500
2--
LAMA4p.S989F
p.E873K
Missense
Missense
SNP
SNP
0.526
0.400
2--
LAMA5p.A2729T
p.E1773D
p.P1458S
Missense
Missense
Missense
SNP
SNP
SNP
0.313
0.516
0.496
2--
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMB4-
-
-
-
3Gain-
LAMC3p.P181L
p.P676L
p.A964T
Missense
Missense
Missense
SNP
SNP
SNP
0.294
0.311
1.000
3Gain-
LAMP3-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
5Amp-
LARP1-
-
-
-
1Loss-
LARP1Bp.R739C
Missense
SNP
0.600
2--
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LBPp.M362I
Missense
SNP
0.395
2--
LBX2-
-
-
-
1Loss-
LCE1Fp.G50N
Missense
MNP
0.580
2--
LCE6Ap.R55K
Missense
SNP
0.587
2--
LCN1-
-
-
-
3Gain-
LCN10-
-
-
-
3Gain-
LCN12-
-
-
-
3Gain-
LCN15-
-
-
-
3Gain-
LCN2-
-
-
-
3Gain-
LCN6-
-
-
-
3Gain-
LCN8-
-
-
-
3Gain-
LCN9-
-
-
-
3Gain-
LCNL1-
-
-
-
3Gain-
LCP2-
-
-
-
1Loss-
LDB3p.G14S
Missense
SNP
0.569
2--
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS9C-
-
-
-
1Loss-
LHB-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
1Loss-
LHX2-
-
-
-
3Gain-
LHX3-
-
-
-
3Gain-
LHX6-
-
-
-
3Gain-
LIG1-
-
-
-
1Loss-
LILRA1-
-
-
-
1Loss-
LILRA2p.K78N
Missense
SNP
0.572
1Loss-
LILRA4-
-
-
-
1Loss-
LILRA5-
-
-
-
1Loss-
LILRA6-
-
-
-
1Loss-
LILRB1-
-
-
-
1Loss-
LILRB2-
-
-
-
1Loss-
LILRB3-
-
-
-
1Loss-
LILRB4-
-
-
-
1Loss-
LILRB5-
-
-
-
1Loss-
LIM2-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMK1-
-
-
-
3Gain-
LIMK2p.S510F
Missense
SNP
0.217
2--
LIN7B-
-
-
-
1Loss-
LINGO1p.A282V
Missense
SNP
0.507
2--
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LINGO4p.G78R
Missense
SNP
0.469
2--
LIPH-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLGL2p.E360K
Missense
SNP
0.759
2--
LMAN2-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
1Loss-
LMTK2-
-
-
-
3Gain-
LMTK3p.G1331S
Missense
SNP
0.354
1Loss-
LMX1B-
-
-
-
3Gain-
LNP1-
-
-
-
3Gain-
LONP1p.G446N
Missense
MNP
0.314
1Loss-
LOX-
-
-
-
1Loss-
LOXL3-
-
-
-
1Loss-
LPAR1-
-
-
-
3Gain-
LPAR2-
-
-
-
1Loss-
LPIN1p.S552F
Missense
SNP
0.533
2--
LPP-
-
-
-
3Gain-
LRCH3-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRFN2p.S758F
Missense
SNP
0.371
2--
LRFN4p.E241K
Missense
SNP
0.483
2--
LRFN5p.S665F
Missense
SNP
0.424
2--
LRG1p.R312C
Missense
SNP
0.717
1Loss-
LRGUK-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRP1p.D2270N
Missense
SNP
0.429
2--
LRP12-
-
-
-
5Amp-
LRP1Bp.G2473R
Missense
SNP
0.433
2--
LRP2p.R2095Q
Missense
SNP
0.441
2--
LRP2BP-
-
-
-
1Loss-
LRP5p.S1487F
Missense
SNP
0.479
2--
LRR1p.S378F
Missense
SNP
0.440
2--
LRRC10p.E168K
Missense
SNP
0.393
2--
LRRC14-
-
-
-
6Amp-
LRRC15-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC19-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
6Amp-
LRRC25-
-
-
-
1Loss-
LRRC26p.S5Y
Missense
SNP
0.295
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC36p.L529F
p.A567T
Missense
Missense
SNP
SNP
0.298
0.660
2--
LRRC3B-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC4B-
-
-
-
1Loss-
LRRC4Cp.S631Y
Missense
SNP
0.551
2--
LRRC53p.G688E
Missense
SNP
0.523
2--
LRRC58-
-
-
-
3Gain-
LRRC6-
-
-
-
5Amp-
LRRC61-
-
-
-
3Gain-
LRRC69p.G293R
Missense
SNP
0.262
5Amp-
LRRC7p.K115N
p.G1469E
Missense
Missense
SNP
SNP
0.487
0.534
2--
LRRC72-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRC8A-
-
-
-
3Gain-
LRRC8E-
-
-
-
1Loss-
LRRCC1-
-
-
-
5Amp-
LRRD1-
-
-
-
3Gain-
LRRFIP2-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRK2p.S2325F
Missense
SNP
0.469
2--
LRRN1-
-
-
-
1Loss-
LRRN3-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRSAM1-
-
-
-
3Gain-
LRTM1-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LTA4Hp.P456S
Missense
SNP
0.441
2--
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LY6D-
-
-
-
6Amp-
LY6E-
-
-
-
6Amp-
LY6H-
-
-
-
6Amp-
LY6K-
-
-
-
6Amp-
LY6L-
-
-
-
6Amp-
LY96-
-
-
-
5Amp-
LYN-
-
-
-
5Amp-
LYNX1-
-
-
-
6Amp-
LYNX1-SLURP2-
-
-
-
6Amp-
LYPD2-
-
-
-
6Amp-
LYPD6p.F50I
Missense
SNP
0.537
2--
LYPD8-
-
-
-
3Gain-
LYPLA1-
-
-
-
5Amp-
LYRM2-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSTp.R2957*
p.P215L
Nonsense
Missense
SNP
SNP
0.556
0.418
2--
LYZL4p.D37N
Missense
SNP
0.279
1Loss-
LZTFL1-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MACF1p.E4394K
p.S5268Y
Missense
Missense
SNP
SNP
0.500
0.473
2--
MAD1L1-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MAF1-
-
-
-
6Amp-
MAFA-
-
-
-
6Amp-
MAFK-
-
-
-
3Gain-
MAGEB18p.M156L
p.P215S
Missense
Missense
SNP
SNP
0.983
1.000
NDND-
MAGEB6P1p.S43F
Missense
SNP
1.000
NDND-
MAGEC2p.S51F
Missense
SNP
1.000
NDND-
MAGEF1-
-
-
-
3Gain-
MAGEL2p.G374*
Nonsense
SNP
0.407
2--
MAGI1-
-
-
-
1Loss-
MAGI2-
-
-
-
3Gain-
MAL2-
-
-
-
5Amp-
MALRD1p.S1609F
Missense
SNP
0.511
2--
MALSU1-
-
-
-
3Gain-
MAMDC2-
-
-
-
3Gain-
MAMDC4-
-
-
-
3Gain-
MAML1p.E256K
Missense
SNP
0.406
1Loss-
MAMSTR-
-
-
-
1Loss-
MAN1B1-
-
-
-
3Gain-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1Ap.E25K
Missense
SNP
0.396
2--
MAP1Bp.G1273D
p.M1484I
Missense
Missense
SNP
SNP
0.477
0.474
2--
MAP1LC3C-
-
-
-
3Gain-
MAP2K2-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K10p.P723S
Missense
SNP
0.533
2--
MAP3K13-
-
-
-
3Gain-
MAP3K7-
-
-
-
1Loss-
MAP3K9p.W95*
Nonsense
SNP
0.517
2--
MAP4-
-
-
-
1Loss-
MAP4K1p.P311L
Missense
SNP
0.472
2--
MAP6D1-
-
-
-
3Gain-
MAPK15p.X66_splice
Splice_Site
SNP
0.254
6Amp-
MAPK6p.R138L
Missense
SNP
0.523
2--
MAPK7-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCOp.G349E
p.Q395*
Missense
Nonsense
SNP
SNP
0.374
0.465
2--
MARK4-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MAT2B-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN2-
-
-
-
5Amp-
MATR3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MAZp.H474Y
Missense
SNP
0.375
2--
MB21D2-
-
-
-
3Gain-
MBD3-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBNL1-
-
-
-
3Gain-
MBOAT7-
-
-
-
1Loss-
MBTD1p.L107F
Missense
SNP
0.275
2--
MCCC1-
-
-
-
3Gain-
MCEMP1-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCHR2p.Q271K
Missense
SNP
0.602
2--
MCM2-
-
-
-
3Gain-
MCM4-
-
-
-
5Amp-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
5Amp-
MCOLN1-
-
-
-
1Loss-
MCTP1p.G876Dfs*3
Frame_Shift_Del
DEL
0.400
2--
MDFIC-
-
-
-
3Gain-
MDGA2p.E483K
p.P365S
p.D87N
Missense
Missense
Missense
SNP
SNP
SNP
0.480
0.502
0.469
2--
MDH2p.X23_splice
Splice_Site
SNP
0.494
3Gain-
MDN1-
-
-
-
1Loss-
ME3p.D543N
Missense
SNP
0.411
2--
MECOMp.D73N
Missense
SNP
0.273
3Gain-
MED1p.P568S
Missense
SNP
0.627
2--
MED11-
-
-
-
1Loss-
MED12Lp.V361A
p.E1172K
Missense
Missense
SNP
SNP
0.680
0.318
3Gain-
MED16-
-
-
-
1Loss-
MED22-
-
-
-
3Gain-
MED25-
-
-
-
1Loss-
MED27-
-
-
-
3Gain-
MED30-
-
-
-
5Amp-
MED31-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2Ap.P166L
Missense
SNP
0.560
2--
MEF2B-
-
-
-
1Loss-
MEF2Cp.R269C
Missense
SNP
0.492
2--
MEGF10-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEIS3p.G223E
Missense
SNP
0.333
1Loss-
MELK-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEN1p.P325S
Missense
SNP
0.509
2--
MEOX2-
-
-
-
3Gain-
MEP1AP4.
Splice_Site
SNP
0.630
NDND-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METTL16-
-
-
-
1Loss-
METTL25p.G406E
Missense
SNP
0.399
2--
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
MEX3Ap.P70F
Missense
MNP
0.581
2--
MEX3D-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFN2p.R294*
Nonsense
SNP
0.451
2--
MFSD1-
-
-
-
3Gain-
MFSD12-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD3-
-
-
-
6Amp-
MFSD6L-
-
-
-
1Loss-
MFSD8p.E336D
Missense
SNP
0.224
2--
MGAp.P2999S
Missense
SNP
0.512
2--
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT1-
-
-
-
1Loss-
MGAT4Bp.Q301H
Missense
SNP
0.430
1Loss-
MGAT4Dp.D271N
Missense
SNP
0.383
2--
MGLL-
-
-
-
3Gain-
MGME1p.P124S
Missense
SNP
0.595
2--
MIA3p.S576F
Missense
SNP
0.536
2--
MICAL2p.P96L
Missense
SNP
0.524
2--
MICALL2-
-
-
-
3Gain-
MICU1p.P60L
Missense
SNP
0.544
2--
MIDN-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIGA2-
-
-
-
3Gain-
MIIPp.S72F
Missense
SNP
0.443
2--
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIPOL1p.E35K
Missense
SNP
0.533
2--
MIS12-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3p.R254C
Missense
SNP
0.512
2--
MLANA-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLXIPp.P265L
Missense
SNP
0.364
2--
MLXIPL-
-
-
-
3Gain-
MMD2p.V199I
Missense
SNP
0.416
3Gain-
MME-
-
-
-
3Gain-
MMP12p.G424R
p.M156I
Missense
Missense
SNP
SNP
0.486
0.415
2--
MMP16p.N348Y
p.P336S
Missense
Missense
SNP
SNP
0.174
0.714
5Amp-
MMP3p.E278K
Missense
SNP
0.580
2--
MN1p.P1085S
Missense
SNP
0.493
2--
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOB1A-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOB3Cp.R147G
Missense
SNP
0.478
2--
MOBP-
-
-
-
1Loss-
MOGAT3-
-
-
-
3Gain-
MOGS-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORN5p.M110I
Missense
SNP
0.330
3Gain-
MOS-
-
-
-
5Amp-
MOSPD3p.R97C
Missense
SNP
0.511
3Gain-
MOV10p.P475S
Missense
SNP
0.579
2--
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPND-
-
-
-
1Loss-
MPP3p.D172N
Missense
SNP
0.193
2--
MPP6-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRC1p.E619K
Missense
SNP
0.507
2--
MRGPRX1p.D9N
Missense
SNP
0.140
2--
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MROH1-
-
-
-
6Amp-
MROH2Bp.L545S
p.E424K
Missense
Missense
SNP
SNP
0.545
0.532
2--
MROH5-
-
-
-
6Amp-
MROH6-
-
-
-
6Amp-
MRPL13-
-
-
-
5Amp-
MRPL15-
-
-
-
5Amp-
MRPL22-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL41-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPL49p.P33L
Missense
SNP
0.491
2--
MRPL50p.P48S
Missense
SNP
0.384
3Gain-
MRPL53-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS2-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS28-
-
-
-
5Amp-
MRPS33-
-
-
-
3Gain-
MRRF-
-
-
-
3Gain-
MS4A7p.M153I
Missense
SNP
0.542
2--
MSANTD1p.D145N
Missense
SNP
0.380
2--
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSC-
-
-
-
5Amp-
MSH4p.M515I
Missense
SNP
0.397
2--
MSL2-
-
-
-
3Gain-
MSMP-
-
-
-
1Loss-
MSR1p.G341E
Missense
SNP
0.480
2--
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSX2-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
5Amp-
MTCL1p.E939K
p.S1489F
Missense
Missense
SNP
SNP
0.504
0.537
2--
MTDH-
-
-
-
5Amp-
MTERF1-
-
-
-
3Gain-
MTERF3-
-
-
-
5Amp-
MTF1p.D727N
Missense
SNP
0.476
2--
MTFR1-
-
-
-
5Amp-
MTG2p.R131_G140del
In_Frame_Del
DEL
0.160
2--
MTHFD2-
-
-
-
1Loss-
MTHFSDp.P297S
Missense
SNP
0.567
2--
MTMR14-
-
-
-
1Loss-
MTMR6p.E218K
Missense
SNP
0.502
2--
MTNR1Ap.P227H
Missense
SNP
0.589
1Loss-
MTPN-
-
-
-
3Gain-
MTRp.X825_splice
p.P1173S
Splice_Site
Missense
SNP
SNP
0.390
0.455
2--
MTSS1-
-
-
-
5Amp-
MTURN-
-
-
-
3Gain-
MTUS2p.R771W
Missense
SNP
0.521
2--
MUC12p.S680L
p.P3177S
Missense
Missense
SNP
SNP
0.170
0.082
3Gain-
MUC13-
-
-
-
3Gain-
MUC16p.D13229N
p.W4118*
p.T1006I
p.S870L
Missense
Nonsense
Missense
Missense
SNP
SNP
SNP
SNP
0.564
0.496
0.495
0.429
2--
MUC17p.L2064F
p.P2421L
Missense
Missense
SNP
SNP
0.499
0.507
3Gain-
MUC20-
-
-
-
3Gain-
MUC3Ap.D3016Y
Missense
SNP
0.230
3Gain-
MUC4p.R1696C
Missense
SNP
0.518
3Gain-
MUC5ACp.L570Y
p.G572E
p.P2240S
Missense
Missense
Missense
MNP
SNP
SNP
0.433
0.442
0.524
2--
MUC5Bp.A1479T
Missense
SNP
0.340
2--
MUM1-
-
-
-
1Loss-
MUSK-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MVB12B-
-
-
-
3Gain-
MXD3-
-
-
-
1Loss-
MYADM-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL1p.K678*
Nonsense
SNP
0.158
5Amp-
MYBPC2-
-
-
-
1Loss-
MYC-
-
-
-
5Amp-
MYCBP2p.G2019N
Missense
MNP
0.435
2--
MYCBPAPp.P636S
Missense
SNP
0.758
2--
MYCT1p.G124E
Missense
SNP
0.649
2--
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2p.D367N
Missense
SNP
0.358
2--
MYH1p.G1247E
p.E1222K
Missense
Missense
SNP
SNP
0.524
0.642
1Loss-
MYH10-
-
-
-
1Loss-
MYH13p.A1910V
Missense
SNP
0.646
1Loss-
MYH14p.Q97*
Nonsense
SNP
0.527
1Loss-
MYH15p.W15*
Nonsense
SNP
0.648
3Gain-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4p.E1124K
Missense
SNP
0.359
1Loss-
MYH6p.E1628K
Missense
SNP
0.596
2--
MYH8-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL3-
-
-
-
1Loss-
MYL7-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYMK-
-
-
-
3Gain-
MYNN-
-
-
-
3Gain-
MYO15Ap.S655F
p.R950P
Missense
Missense
SNP
SNP
0.697
0.673
1Loss-
MYO16p.E662K
Missense
SNP
0.541
2--
MYO1Ap.L543F
Missense
SNP
0.379
2--
MYO1Cp.P89L
Missense
SNP
0.725
1Loss-
MYO1G-
-
-
-
3Gain-
MYO5Bp.R749*
Nonsense
SNP
0.456
2--
MYO9Ap.S891N
Missense
SNP
0.477
2--
MYOCDp.S664F
Missense
SNP
0.242
1Loss-
MYOM2p.P1017F
Missense
MNP
0.549
2--
MYORG-
-
-
-
1Loss-
MYOTp.P349T
Missense
SNP
0.618
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPOPp.S259F
Missense
SNP
0.649
1Loss-
MYRIP-
-
-
-
1Loss-
MYT1p.G376R
Missense
SNP
0.438
2--
MZB1-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
N4BP2p.R1198K
Missense
SNP
0.657
2--
N4BP3p.S211F
Missense
SNP
0.565
1Loss-
NAA16p.P572S
Missense
SNP
0.516
2--
NAA25p.L55*
Nonsense
SNP
0.531
2--
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA80-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NACAp.S316F
Missense
SNP
0.404
2--
NACAD-
-
-
-
3Gain-
NACC2-
-
-
-
3Gain-
NAIF1-
-
-
-
3Gain-
NALCNp.G1499K
p.D1277N
Missense
Missense
MNP
SNP
0.640
0.436
2--
NAMPT-
-
-
-
3Gain-
NANOS2-
-
-
-
1Loss-
NANS-
-
-
-
3Gain-
NAPA-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
6Amp-
NAPSA-
-
-
-
1Loss-
NARFp.E217K
Missense
SNP
0.670
2--
NAT16p.E62K
Missense
SNP
0.458
3Gain-
NAV3p.R1575W
Missense
SNP
0.417
2--
NBASp.M499I
Missense
SNP
0.578
2--
NBEAp.D1134N
Missense
SNP
0.295
2--
NBEAL1p.P735S
Missense
SNP
0.525
2--
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
5Amp-
NBPF11p.E206K
Missense
SNP
0.583
2--
NBPF26p.H151Y
Missense
SNP
0.494
2--
NCALD-
-
-
-
5Amp-
NCAN-
-
-
-
1Loss-
NCAPD3p.S231F
Missense
SNP
0.466
2--
NCAPG2-
-
-
-
3Gain-
NCBP1-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCKAP1Lp.E107K
p.P569L
Missense
Missense
SNP
SNP
0.425
0.529
2--
NCKAP5p.P1066L
p.G624E
Missense
Missense
SNP
SNP
0.425
0.543
2--
NCKAP5Lp.E1096K
Missense
SNP
0.387
2--
NCKIPSD-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOA2-
-
-
-
5Amp-
NCOA4p.E302K
Missense
SNP
0.276
2--
NCOR1-
-
-
-
1Loss-
NCOR2p.S2109N
p.G804E
Missense
Missense
SNP
SNP
0.682
0.533
2--
NCS1-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDOR1-
-
-
-
3Gain-
NDRG1-
-
-
-
5Amp-
NDRG2p.R347L
Missense
SNP
0.424
2--
NDST1-
-
-
-
1Loss-
NDST2p.L88I
Missense
SNP
0.412
2--
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA8-
-
-
-
3Gain-
NDUFAF3-
-
-
-
1Loss-
NDUFAF6-
-
-
-
5Amp-
NDUFB2-
-
-
-
3Gain-
NDUFB3p.D94N
Missense
SNP
0.435
NDND-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
5Amp-
NDUFS7-
-
-
-
1Loss-
NEBLp.E24K
Missense
SNP
0.543
2--
NECAB1-
-
-
-
5Amp-
NECTIN2-
-
-
-
1Loss-
NECTIN3-
-
-
-
3Gain-
NEFMp.G542R
Missense
SNP
0.603
2--
NEIL3-
-
-
-
1Loss-
NEK1p.R608C
p.L106S
Missense
Missense
SNP
SNP
0.641
0.313
2--
NEK10p.G1017E
Missense
SNP
0.263
1Loss-
NEK11-
-
-
-
3Gain-
NEK4-
-
-
-
1Loss-
NEK6-
-
-
-
3Gain-
NELFB-
-
-
-
3Gain-
NELL2p.R389Q
Missense
SNP
0.484
2--
NEO1p.P370L
Missense
SNP
0.593
2--
NEPRO-
-
-
-
3Gain-
NEURL1B-
-
-
-
1Loss-
NEURL4p.R1177W
p.E953K
p.P310L
Missense
Missense
Missense
SNP
SNP
SNP
0.318
0.243
0.322
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NF1p.S2117F
Missense
SNP
0.694
2--
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFICp.P102L
Missense
SNP
0.622
1Loss-
NFIL3-
-
-
-
3Gain-
NFIXp.P352S
Missense
SNP
0.645
2--
NFKB1p.P6S
Missense
SNP
0.260
2--
NFKBIZ-
-
-
-
3Gain-
NFX1-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NID2p.E1024K
Missense
SNP
0.571
2--
NINJ1-
-
-
-
3Gain-
NIPAL2-
-
-
-
5Amp-
NIPAL4p.P48S
Missense
SNP
0.415
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NISCHp.E63A
Missense
SNP
0.305
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN3p.G39E
Missense
SNP
0.288
5Amp-
NKAPLp.D276N
Missense
SNP
0.571
2--
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-5p.P3S
Missense
SNP
0.544
1Loss-
NKX3-1p.E202K
Missense
SNP
0.557
2--
NLGN1-
-
-
-
3Gain-
NLGN2-
-
-
-
1Loss-
NLRP1p.P97L
Missense
SNP
0.667
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13p.H420Y
Missense
SNP
0.430
2--
NLRP3-
-
-
-
3Gain-
NLRP9p.P329S
Missense
SNP
0.478
2--
NMD3p.P47L
Missense
SNP
0.716
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRK1-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMT1p.S312F
Missense
SNP
0.705
2--
NMUR2-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOD2p.T1012I
Missense
SNP
0.357
2--
NOL6p.G843E
Missense
SNP
1.000
1Loss-
NOL8-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP16-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOS3-
-
-
-
3Gain-
NOSIP-
-
-
-
1Loss-
NOTCH1p.S1723N;p.X1723_splice
Splice_Site
MNP
1.000
3Gain-
NOTCH2p.A1340Qfs*10
p.P2375L
Frame_Shift_Del
Missense
DEL
SNP
0.495
0.523
2--
NOTCH3p.Q1486*
p.W1028*
Nonsense
Nonsense
SNP
SNP
0.438
0.471
2--
NOV-
-
-
-
5Amp-
NOVA2-
-
-
-
1Loss-
NOX5p.S598Y
Missense
SNP
0.474
2--
NOXA1-
-
-
-
3Gain-
NPAP1p.D880N
Missense
SNP
0.438
2--
NPAS1-
-
-
-
1Loss-
NPATp.L740V
p.S709*
Missense
Nonsense
SNP
SNP
0.225
0.209
2--
NPBWR1-
-
-
-
5Amp-
NPC1L1-
-
-
-
3Gain-
NPDC1-
-
-
-
3Gain-
NPEPL1p.W393*
Nonsense
MNP
0.319
2--
NPHP1p.P395Sfs*20
Frame_Shift_Ins
INS
0.325
2--
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHP4p.E1190K
Missense
SNP
0.561
2--
NPM1-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR0B2p.G13K
Missense
MNP
0.551
2--
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2E3p.T6K
Missense
SNP
0.422
2--
NR3C1-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR6A1-
-
-
-
3Gain-
NRAPp.P1669S
p.T660I
Missense
Missense
SNP
SNP
0.416
0.571
2--
NRARP-
-
-
-
3Gain-
NRBP2-
-
-
-
6Amp-
NRCAMp.P1241S
p.W147C
Missense
Missense
SNP
SNP
0.451
0.483
3Gain-
NRF1-
-
-
-
3Gain-
NRG2-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRTN-
-
-
-
1Loss-
NRXN1p.G1009E
p.G156E
p.F96C
Missense
Missense
Missense
SNP
SNP
SNP
0.576
0.473
0.571
2--
NRXN3p.S355F
Missense
SNP
0.571
2--
NSD1p.R1731C
Missense
SNP
0.417
1Loss-
NSG2-
-
-
-
1Loss-
NSMAF-
-
-
-
5Amp-
NSMCE2-
-
-
-
5Amp-
NSMCE4Ap.A75T
Missense
SNP
0.431
2--
NSMF-
-
-
-
3Gain-
NSUN3p.S226F
p.Q227*
Missense
Nonsense
SNP
SNP
0.263
0.258
3Gain-
NSUN5-
-
-
-
3Gain-
NT5C1Ap.P46L
Missense
SNP
0.576
2--
NT5C1Bp.R287K
Missense
SNP
0.419
2--
NT5C3A-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5DC4p.E398K
Missense
SNP
0.424
2--
NT5M-
-
-
-
1Loss-
NTF4-
-
-
-
1Loss-
NTMT1-
-
-
-
3Gain-
NTN1p.R72L
Missense
SNP
0.286
1Loss-
NTN5-
-
-
-
1Loss-
NTNG2-
-
-
-
3Gain-
NTRK1p.E413K
Missense
SNP
0.438
2--
NTRK2-
-
-
-
3Gain-
NTRK3p.R153W
Missense
SNP
0.404
2--
NUB1-
-
-
-
3Gain-
NUCB1-
-
-
-
1Loss-
NUDCD1-
-
-
-
5Amp-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT16-
-
-
-
3Gain-
NUDT2-
-
-
-
1Loss-
NUDT4p.S178F
Missense
SNP
0.714
2--
NUMBLp.P572L
Missense
SNP
0.485
2--
NUP188-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP210Lp.D126N
Missense
SNP
0.573
2--
NUP214p.P1314S
Missense
SNP
0.347
3Gain-
NUP62-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUPL2p.H212Y
Missense
SNP
0.503
3Gain-
NUPR2-
-
-
-
3Gain-
NUTM1p.S266F
Missense
SNP
0.481
2--
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NWD2p.G127E
Missense
SNP
0.538
2--
NXN-
-
-
-
1Loss-
NXNL2-
-
-
-
3Gain-
NXPE1p.G129E
Missense
SNP
0.421
2--
NXPE3-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NYAP1p.P98L
p.S175F
p.V202I
p.G204W
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.490
0.409
0.411
0.580
3Gain-
OAZ1-
-
-
-
1Loss-
OBP2A-
-
-
-
3Gain-
OBP2B-
-
-
-
3Gain-
OBSCNp.H3041Y
Missense
SNP
0.576
3Gain-
OBSL1p.E1215*
p.F606L
Nonsense
Missense
SNP
SNP
0.541
0.516
2--
OC90-
-
-
-
5Amp-
OCIAD1-
-
-
-
3Gain-
OCIAD2-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF1-
-
-
-
5Amp-
ODF2-
-
-
-
3Gain-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGDHLp.E166K
Missense
SNP
0.549
2--
OGG1-
-
-
-
1Loss-
OGN-
-
-
-
3Gain-
OLFM1p.R4C
Missense
SNP
0.331
3Gain-
OLFML2A-
-
-
-
3Gain-
OLIG3p.L255F
Missense
SNP
0.519
2--
OMD-
-
-
-
3Gain-
ONECUT3-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPA3-
-
-
-
1Loss-
OPLAH-
-
-
-
6Amp-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPRK1-
-
-
-
5Amp-
OR10A7p.M118I
Missense
SNP
0.402
2--
OR10G4p.I245V
Missense
SNP
0.490
2--
OR10R2p.L206I
Missense
SNP
0.563
2--
OR11G2p.P197S
Missense
SNP
0.511
2--
OR11L1-
-
-
-
3Gain-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR13J1-
-
-
-
1Loss-
OR14A16p.V57L
Missense
SNP
0.338
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1p.S188Y
Missense
SNP
0.598
2--
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1p.G147R
Missense
SNP
0.383
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3p.P79S
Missense
SNP
0.331
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7p.E268K
p.R21S
Missense
Missense
SNP
SNP
0.124
0.248
NDND-
OR2AE1-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11p.Q84H
Missense
SNP
0.089
3Gain-
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2K2-
-
-
-
3Gain-
OR2L13p.L62F
Missense
SNP
0.312
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2S2-
-
-
-
1Loss-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2p.E112K
Missense
SNP
0.167
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W3-
-
-
-
3Gain-
OR2Y1-
-
-
-
1Loss-
OR2Z1p.M197I
Missense
SNP
0.673
2--
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13p.D119N
Missense
SNP
0.497
1Loss-
OR4C15p.G53R
p.R175C
Missense
Missense
SNP
SNP
0.486
0.431
2--
OR4C5p.G173R
Missense
SNP
0.349
1Loss-
OR4D10p.L31I
p.G41R
Missense
Missense
SNP
SNP
0.557
0.400
2--
OR4D9p.A147T
Missense
SNP
0.548
2--
OR4F17-
-
-
-
1Loss-
OR4K5p.R299K
Missense
SNP
0.331
2--
OR4M1p.P286L
Missense
SNP
0.312
2--
OR4N5p.G41E
Missense
SNP
0.487
2--
OR4X2p.E62K
Missense
SNP
0.491
2--
OR51A2p.D185N
Missense
SNP
0.324
2--
OR52E8p.L221F
Missense
SNP
0.488
2--
OR5AC2-
-
-
-
3Gain-
OR5AN1p.N85S
Missense
SNP
0.435
2--
OR5C1-
-
-
-
3Gain-
OR5D14p.M47I
Missense
SNP
0.407
2--
OR5D18p.D300N
Missense
SNP
0.422
2--
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR6A2p.S98F
Missense
SNP
0.423
2--
OR6B1-
-
-
-
3Gain-
OR6C3p.P259S
Missense
SNP
0.389
2--
OR6C4p.R120C
Missense
SNP
0.586
2--
OR6F1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR7C2p.P210S
Missense
SNP
0.558
2--
OR7D2p.P108S
Missense
SNP
0.539
2--
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9I1p.S212F
Missense
SNP
0.512
2--
ORAI1p.T117I
Missense
SNP
0.549
2--
ORAI2-
-
-
-
3Gain-
ORC4p.Q410*
Nonsense
SNP
0.455
2--
ORC5p.P320S
Missense
SNP
0.456
3Gain-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
OS9p.P537S
Missense
SNP
0.600
2--
OSBPL10p.M516I
Missense
SNP
0.281
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSCAR-
-
-
-
1Loss-
OSGIN2p.D412G
Missense
SNP
0.272
5Amp-
OSR2-
-
-
-
5Amp-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
3Gain-
OTOA-
-
-
-
1Loss-
OTOFp.E1318K
Missense
SNP
0.566
2--
OTOL1-
-
-
-
3Gain-
OTUD6B-
-
-
-
5Amp-
OVCA2-
-
-
-
1Loss-
OVOS2p.P516S
Missense
SNP
0.229
NDND-
OXA1Lp.L57I
Missense
SNP
0.484
2--
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
5Amp-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY1p.H79Y
Missense
SNP
0.753
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
5Amp-
PADI4p.G4E
Missense
SNP
0.406
2--
PAEP-
-
-
-
3Gain-
PAFAH1B1-
-
-
-
1Loss-
PAG1-
-
-
-
5Amp-
PAIP2-
-
-
-
1Loss-
PAK2p.P448L
Missense
SNP
0.726
3Gain-
PAK5p.F525L
Missense
SNP
0.559
2--
PALM-
-
-
-
1Loss-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2p.P257T
Missense
SNP
0.396
3Gain-
PANK3-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA-
-
-
-
3Gain-
PAPPA2p.P647L
p.E1581K
Missense
Missense
SNP
SNP
0.602
0.559
2--
PAQR9-
-
-
-
3Gain-
PARL-
-
-
-
3Gain-
PARP10-
-
-
-
6Amp-
PARP12-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15p.X411_splice
Splice_Site
SNP
0.237
3Gain-
PARP3-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX5-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PAXX-
-
-
-
3Gain-
PBRM1-
-
-
-
1Loss-
PBX3-
-
-
-
3Gain-
PBX4-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH8p.P1038S
Missense
SNP
0.504
2--
PCDH9p.G1226*
Nonsense
SNP
0.471
2--
PCDHA10p.H31N
Missense
SNP
0.625
2--
PCDHA13p.A167T
Missense
SNP
0.624
2--
PCDHA2p.A363T
p.E444K
Missense
Missense
SNP
SNP
0.319
0.416
2--
PCDHA3p.H294Y
Missense
SNP
0.313
2--
PCDHA6p.G430E
Missense
SNP
0.791
2--
PCDHA9p.E94K
Missense
SNP
0.426
2--
PCDHB1p.S544G
Missense
SNP
0.638
2--
PCDHB11p.S213F
p.S667F
Missense
Missense
SNP
SNP
0.231
0.562
2--
PCDHB2p.E96K
Missense
SNP
0.363
2--
PCDHB6p.P731S
p.P773S
Missense
Missense
SNP
SNP
0.450
0.477
2--
PCDHB8p.D480N
Missense
SNP
0.438
2--
PCDHGA12p.P669S
Missense
SNP
0.366
2--
PCDHGA4p.D40N
p.P184S
Missense
Missense
SNP
SNP
0.188
0.335
2--
PCDHGA6p.N81K
Missense
SNP
0.333
2--
PCDHGB1p.V667E
Missense
SNP
0.601
2--
PCDHGB2p.S503F
Missense
SNP
0.702
2--
PCED1Ap.E364K
Missense
SNP
0.349
2--
PCGF1-
-
-
-
1Loss-
PCLOp.P4539S
Missense
SNP
0.467
3Gain-
PCM1p.X1784_splice
Splice_Site
SNP
0.444
2--
PCMTD1-
-
-
-
5Amp-
PCMTD2p.Q159*
Nonsense
SNP
0.590
2--
PCNP-
-
-
-
3Gain-
PCNTp.R2663C
Missense
SNP
0.577
2--
PCNX2p.P429S
Missense
SNP
0.531
2--
PCOLCEp.W65*
Nonsense
SNP
0.442
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCP2-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK5p.K708N
Missense
SNP
0.063
3Gain-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD11p.L399F
Missense
SNP
0.437
2--
PDCD1LG2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCL-
-
-
-
3Gain-
PDE12-
-
-
-
1Loss-
PDE1C-
-
-
-
3Gain-
PDE2Ap.F667Y
Missense
SNP
0.509
2--
PDE3Bp.H764N
Missense
SNP
0.533
2--
PDE4DIPp.L921F
Missense
SNP
0.394
2--
PDE6A-
-
-
-
1Loss-
PDE6Gp.L49F
Missense
SNP
0.250
2--
PDE7A-
-
-
-
5Amp-
PDGFA-
-
-
-
3Gain-
PDGFRBp.S650L
Missense
SNP
0.383
1Loss-
PDHA2p.P314S
Missense
SNP
0.694
2--
PDHB-
-
-
-
1Loss-
PDIA2p.E405K
Missense
SNP
0.271
2--
PDIA4-
-
-
-
3Gain-
PDIA5-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM3-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP1-
-
-
-
5Amp-
PDYNp.P71S
Missense
SNP
0.375
2--
PDZD2p.S1386F
Missense
SNP
0.467
2--
PDZRN3-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP4p.K36E
Missense
SNP
0.705
2--
PEG10-
-
-
-
3Gain-
PEG3p.K1339G
Missense
MNP
0.495
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
5Amp-
PER1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PEX11G-
-
-
-
1Loss-
PEX2-
-
-
-
5Amp-
PEX3p.E211K
Missense
SNP
0.349
2--
PEX5L-
-
-
-
3Gain-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PFN3-
-
-
-
1Loss-
PGAM2p.G34E
Missense
SNP
0.480
3Gain-
PGAP2p.L25F
Missense
SNP
0.505
2--
PGBD2-
-
-
-
3Gain-
PGGT1B-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP4p.G220R
Missense
SNP
0.437
2--
PGM5-
-
-
-
3Gain-
PGPEP1-
-
-
-
1Loss-
PHACTR4p.P395L
Missense
SNP
0.512
2--
PHAX-
-
-
-
1Loss-
PHC3-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20L1p.E14Q
p.E299G
Missense
Missense
SNP
SNP
0.171
0.191
5Amp-
PHF21Ap.G289R
Missense
SNP
0.398
2--
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDB2-
-
-
-
3Gain-
PHLDB3p.E147K
Missense
SNP
0.622
2--
PHLPP1p.E1016K
Missense
SNP
0.494
2--
PHPT1-
-
-
-
3Gain-
PHRF1p.P741L
Missense
SNP
0.493
2--
PHTF2-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PHYKPL-
-
-
-
1Loss-
PI15-
-
-
-
5Amp-
PIAS2p.F179L
p.E176K
Missense
Missense
SNP
SNP
0.381
0.611
2--
PIAS4-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIGWp.L121Hfs*13
Frame_Shift_Del
DEL
0.772
2--
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIH1D1-
-
-
-
1Loss-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CDp.P305L
Missense
SNP
0.568
2--
PIK3CGp.A84T
Missense
SNP
0.429
3Gain-
PIK3R2p.D557Y
Missense
SNP
0.485
2--
PIK3R4-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIMREG-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4P2-
-
-
-
5Amp-
PIP5K1B-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PIP5KL1-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM2p.A275V
Missense
SNP
0.411
2--
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD2L2-
-
-
-
1Loss-
PKDREJp.H1268Y
Missense
SNP
0.520
2--
PKHD1L1p.S2867F
Missense
SNP
0.208
5Amp-
PKIA-
-
-
-
5Amp-
PKN3-
-
-
-
3Gain-
PKP4p.E633Q
Missense
SNP
0.188
2--
PLA1A-
-
-
-
3Gain-
PLA2G15p.G135S
Missense
SNP
0.297
2--
PLA2G2Fp.D101N
Missense
SNP
0.393
2--
PLA2G4Cp.P446L
Missense
SNP
0.267
1Loss-
PLA2R1p.L429F
Missense
SNP
0.398
2--
PLAA-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAG1-
-
-
-
5Amp-
PLBD2p.S506F
Missense
SNP
0.579
2--
PLCB1p.Y334F
Missense
SNP
0.513
2--
PLCB4p.K1098R
Missense
SNP
0.370
2--
PLCD1-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCL1p.R459Q
Missense
SNP
0.406
2--
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLD2p.D138N
Missense
SNP
0.304
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLECp.L3584F
Missense
SNP
0.230
6Amp-
PLEKHA4-
-
-
-
1Loss-
PLEKHA6p.Q405*
Nonsense
SNP
0.523
2--
PLEKHA8-
-
-
-
3Gain-
PLEKHF2-
-
-
-
5Amp-
PLEKHG2p.R1348Q
Missense
SNP
0.528
2--
PLEKHG4p.L979P
Missense
SNP
0.641
2--
PLEKHG5p.M481I
p.K132*
Missense
Nonsense
SNP
SNP
0.376
0.588
2--
PLEKHJ1-
-
-
-
1Loss-
PLEKHO1p.G328R
Missense
SNP
0.605
2--
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3p.T328I
Missense
SNP
0.204
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK3p.R296Q
Missense
SNP
0.508
2--
PLK5-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPP2-
-
-
-
1Loss-
PLPP5p.G2R
Missense
SNP
0.345
2--
PLPP6-
-
-
-
1Loss-
PLPP7-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2p.Q5*
Nonsense
SNP
0.325
3Gain-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXNA1-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PLXNB1p.E1573K
Missense
SNP
0.588
1Loss-
PLXND1p.S1286F
Missense
SNP
0.318
3Gain-
PM20D2-
-
-
-
1Loss-
PMLp.V333M
Missense
SNP
0.429
2--
PMP2-
-
-
-
5Amp-
PMP22-
-
-
-
1Loss-
PMPCA-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNKP-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA7-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
PNRC1-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLD1-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLDIP3p.P406L
Missense
SNP
0.262
2--
POLE3-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLQ-
-
-
-
3Gain-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
5Amp-
POLR3Bp.P673S
Missense
SNP
0.422
2--
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2p.I286T
Missense
SNP
1.000
2--
POMGNT2-
-
-
-
1Loss-
POMT1-
-
-
-
3Gain-
POMT2p.P363S
Missense
SNP
0.447
2--
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
5Amp-
POP7-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
PORCNp.E263K
Missense
SNP
1.000
NDND-
POT1p.E128G
Missense
SNP
0.508
3Gain-
POU1F1-
-
-
-
1Loss-
POU2AF1p.P101L
Missense
SNP
0.411
2--
POU4F3p.S67F
Missense
SNP
0.523
1Loss-
POU5F1Bp.Q282*
Nonsense
SNP
0.702
5Amp-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1Bp.L594F
Missense
SNP
0.303
1Loss-
PPDPFL-
-
-
-
5Amp-
PPFIA3-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPM1Ep.W620*
Nonsense
SNP
0.236
2--
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPOXp.R230C
Missense
SNP
0.632
2--
PPP1R13Lp.Q409*
Nonsense
SNP
0.783
1Loss-
PPP1R15A-
-
-
-
1Loss-
PPP1R16A-
-
-
-
6Amp-
PPP1R16Bp.R291K
Missense
SNP
0.287
2--
PPP1R17-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R26-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R37-
-
-
-
1Loss-
PPP1R3A-
-
-
-
3Gain-
PPP1R3Fp.P696L
Missense
SNP
1.000
NDND-
PPP1R42-
-
-
-
5Amp-
PPP1R9Ap.P1213S
Missense
SNP
0.468
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2R1A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP3R2-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP4R3CPp.G79D
Missense
SNP
1.000
NDND-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6C-
-
-
-
3Gain-
PPP6R3p.S202L
Missense
SNP
0.426
2--
PQLC2L-
-
-
-
3Gain-
PRAMEp.P486S
Missense
SNP
0.462
2--
PRAMEF27p.P67S
Missense
SNP
0.478
NDND-
PRAMEF7p.G328D
Missense
SNP
0.559
2--
PRAMEF8p.D20N
Missense
SNP
0.588
2--
PRB4p.G107E
Missense
SNP
0.438
2--
PRDM10p.P209L
Missense
SNP
0.466
2--
PRDM12-
-
-
-
3Gain-
PRDM14-
-
-
-
5Amp-
PRDM6-
-
-
-
1Loss-
PRDM7p.N126I
Missense
SNP
0.311
2--
PRDM9p.E132K
Missense
SNP
0.531
2--
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREX1p.G603E
p.P439S
Missense
Missense
SNP
SNP
0.527
0.645
2--
PREX2p.H1404Ifs*9
Frame_Shift_Del
DEL
0.217
5Amp-
PRICKLE1p.P58S
Missense
SNP
0.476
2--
PRICKLE2-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKACGp.D100N
Missense
SNP
0.321
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2Ap.H165Y
Missense
SNP
0.344
1Loss-
PRKAR2B-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCI-
-
-
-
3Gain-
PRKCQp.E636K
Missense
SNP
0.401
2--
PRKCZp.W434*
Nonsense
SNP
0.454
2--
PRKD2-
-
-
-
1Loss-
PRKDCp.A1928T;p.M1927I
Missense
MNP
0.249
5Amp-
PRKG2p.K502T
Missense
SNP
0.364
2--
PRKRIP1-
-
-
-
3Gain-
PRMT1-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROS1-
-
-
-
3Gain-
PRPF31-
-
-
-
1Loss-
PRPF4p.W392*
Nonsense
SNP
0.655
3Gain-
PRPF8p.P1313L
Missense
SNP
0.691
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR12-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR19p.R119L
Missense
SNP
0.440
2--
PRR22-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR36-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2Ap.R756Q
p.K1253*
Missense
Nonsense
SNP
SNP
1.000
1.000
2--
PRRC2B-
-
-
-
3Gain-
PRRC2Cp.D756N
Missense
SNP
0.347
2--
PRRG2-
-
-
-
1Loss-
PRRT1B-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRRX2-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS3-
-
-
-
1Loss-
PRSS35p.P143L
p.S236F
Missense
Missense
SNP
SNP
0.586
0.362
2--
PRSS37-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE2p.R2227K
Missense
SNP
0.605
3Gain-
PRXL2C-
-
-
-
3Gain-
PSAT1-
-
-
-
3Gain-
PSCA-
-
-
-
6Amp-
PSDp.P343S
Missense
SNP
0.538
2--
PSD2-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
5Amp-
PSMA2-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD5-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSPN-
-
-
-
1Loss-
PTAR1-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTBP3-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTCH1p.R783W
Missense
SNP
0.340
3Gain-
PTCHD1p.G331R
Missense
SNP
1.000
NDND-
PTDSS1p.D441N
Missense
SNP
0.236
5Amp-
PTGDR2p.A250T
Missense
SNP
0.567
2--
PTGDS-
-
-
-
3Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGIR-
-
-
-
1Loss-
PTGR1-
-
-
-
3Gain-
PTGS1p.S529T
Missense
SNP
0.361
3Gain-
PTHp.D24N
Missense
SNP
0.463
2--
PTH1R-
-
-
-
1Loss-
PTH2-
-
-
-
1Loss-
PTK2-
-
-
-
5Amp-
PTK7p.Y688F
Missense
SNP
0.551
2--
PTN-
-
-
-
3Gain-
PTOV1-
-
-
-
1Loss-
PTP4A3-
-
-
-
6Amp-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN14p.P427S
p.P416S
Missense
Missense
SNP
SNP
0.360
0.295
2--
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN4p.Q343*
Nonsense
SNP
0.533
2--
PTPN5p.X334_splice
Splice_Site
SNP
0.459
2--
PTPRBp.X1796_splice
p.E1251K
p.G216E
Splice_Site
Missense
Missense
SNP
SNP
SNP
0.451
0.490
0.440
2--
PTPRD-
-
-
-
1Loss-
PTPRFp.Q1625*
Nonsense
SNP
0.520
2--
PTPRG-
-
-
-
1Loss-
PTPRJp.S724F
Missense
SNP
0.434
2--
PTPRN2-
-
-
-
3Gain-
PTPRSp.R1829W
Missense
SNP
0.337
1Loss-
PTPRZ1-
-
-
-
3Gain-
PTRH1-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PUF60-
-
-
-
6Amp-
PUM1p.G674K
Missense
MNP
0.449
2--
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVR-
-
-
-
1Loss-
PVRIG-
-
-
-
3Gain-
PXDNp.T682L
Missense
MNP
0.524
2--
PXDNLp.A750V
Missense
SNP
0.273
5Amp-
PXK-
-
-
-
1Loss-
PXYLP1-
-
-
-
3Gain-
PYCR3-
-
-
-
6Amp-
PYDC2-
-
-
-
3Gain-
PYGMp.F167Y
Missense
SNP
0.450
2--
PYYp.G65E
Missense
SNP
0.258
2--
QARS-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QRFP-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QRICH2p.S994F
Missense
SNP
0.333
2--
QSOX1p.P367L
Missense
SNP
0.463
2--
QSOX2-
-
-
-
3Gain-
QTRT2-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
RAB11Bp.P191L
Missense
MNP
0.500
2--
RAB11FIP5p.G709R
Missense
SNP
0.471
2--
RAB13p.E108K
Missense
SNP
0.434
2--
RAB14-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RAB24-
-
-
-
1Loss-
RAB2A-
-
-
-
5Amp-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RABEP1p.L807S
Missense
SNP
0.708
1Loss-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABL3-
-
-
-
3Gain-
RABL6-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACGAP1p.E348K
Missense
SNP
0.349
2--
RACK1-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
5Amp-
RAD23B-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD52p.R278*
p.L159F
Nonsense
Missense
SNP
SNP
0.471
0.457
2--
RAD54B-
-
-
-
5Amp-
RAD54L2-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPA2p.E575K
Missense
SNP
0.550
2--
RALGDS-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALGPS2p.T577_L579del
In_Frame_Del
DEL
0.389
2--
RALYL-
-
-
-
5Amp-
RAMP3p.E30K
Missense
SNP
0.482
3Gain-
RANBP17-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF1-
-
-
-
3Gain-
RAPGEF2p.G937S
Missense
SNP
0.732
2--
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPGEFL1p.P144S
Missense
SNP
0.775
2--
RARAp.K118Nfs*31
Frame_Shift_Del
DEL
0.647
2--
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL1p.P806S
Missense
SNP
0.483
2--
RASD1-
-
-
-
1Loss-
RASEFp.M184I
Missense
SNP
0.621
3Gain-
RASGEF1C-
-
-
-
1Loss-
RASGRF2p.H404Y
Missense
SNP
0.436
2--
RASGRP3p.S387L
Missense
SNP
0.500
2--
RASGRP4p.P94L
Missense
SNP
0.562
2--
RASIP1p.A141V
Missense
SNP
0.727
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF2p.R78*
Nonsense
SNP
0.551
2--
RAVER1p.P482S
p.P146L
Missense
Missense
SNP
SNP
0.429
0.441
2--
RAX2-
-
-
-
1Loss-
RB1CC1-
-
-
-
5Amp-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBFOX1p.G396D
Missense
SNP
0.411
2--
RBL2p.R493C
Missense
SNP
0.656
2--
RBM12B-
-
-
-
5Amp-
RBM15B-
-
-
-
1Loss-
RBM18-
-
-
-
3Gain-
RBM19p.X749_splice
Splice_Site
SNP
0.459
2--
RBM22-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6p.S101L
Missense
SNP
0.345
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXp.G295S
Missense
SNP
1.000
NDND-
RBMXL2p.T55I
p.E227K
p.G303K
Missense
Missense
Missense
SNP
SNP
MNP
0.472
0.514
0.420
2--
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RC3H2-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH10-
-
-
-
5Amp-
RDH16p.P298L
Missense
SNP
0.496
2--
RECK-
-
-
-
1Loss-
RECQL4-
-
-
-
6Amp-
REEP2-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELNp.D2842N
p.D2652N
p.D1364N
Missense
Missense
Missense
SNP
SNP
SNP
0.395
0.538
0.466
3Gain-
REPIN1-
-
-
-
3Gain-
RETN-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETSATp.P292S
Missense
SNP
0.508
2--
REV1p.E106K
Missense
SNP
0.468
2--
REX1BD-
-
-
-
1Loss-
REXO1p.N862K
p.P795S
Missense
Missense
SNP
SNP
0.308
0.312
1Loss-
REXO4-
-
-
-
3Gain-
RFC2p.E142K
Missense
SNP
0.448
3Gain-
RFC4-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFWD2p.G532N
Missense
MNP
0.370
NDND-
RFX1p.S193F
Missense
SNP
0.432
2--
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX6p.E43K
Missense
SNP
0.354
2--
RFXANK-
-
-
-
1Loss-
RGAG4p.E308K
Missense
SNP
0.989
NDND-
RGP1-
-
-
-
1Loss-
RGS14-
-
-
-
1Loss-
RGS20-
-
-
-
5Amp-
RGS22p.G52E
Missense
SNP
0.244
5Amp-
RGS3p.R459C
Missense
SNP
0.615
3Gain-
RGS7p.P295L
Missense
MNP
0.595
3Gain-
RHBDD2-
-
-
-
3Gain-
RHDp.G263E
Missense
SNP
0.418
2--
RHEB-
-
-
-
3Gain-
RHOp.E232K
Missense
SNP
0.276
3Gain-
RHOA-
-
-
-
1Loss-
RHPN1-
-
-
-
6Amp-
RIC1-
-
-
-
1Loss-
RIDA-
-
-
-
5Amp-
RIF1p.S1149F
Missense
SNP
0.507
2--
RILP-
-
-
-
1Loss-
RIMS2-
-
-
-
5Amp-
RINT1-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK2-
-
-
-
5Amp-
RIPK4p.E351Rfs*72
Frame_Shift_Del
DEL
0.978
2--
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN1-
-
-
-
5Amp-
RMI1p.G79R
Missense
SNP
0.356
3Gain-
RMND5B-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--ACTB
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND2p.R90P
Missense
SNP
0.296
2--
RNF112-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF130-
-
-
-
1Loss-
RNF133p.D299N
Missense
SNP
0.499
3Gain-
RNF139-
-
-
-
5Amp-
RNF14-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF150p.P330L
Missense
SNP
0.709
2--
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF183-
-
-
-
3Gain-
RNF19A-
-
-
-
5Amp-
RNF20-
-
-
-
3Gain-
RNF208-
-
-
-
3Gain-
RNF212Bp.G202E
Missense
SNP
0.527
2--
RNF216-
-
-
-
3Gain-
RNF220p.G405W
Missense
SNP
0.548
2--
RNF222-
-
-
-
1Loss-
RNF224-
-
-
-
3Gain-
RNF225-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF38p.S37N
Missense
SNP
1.000
1Loss-
RNF44-
-
-
-
1Loss-
RNF6p.P192L
Missense
SNP
0.551
2--
RNF7-
-
-
-
3Gain-
RNGTTp.H46Y
Missense
SNP
1.000
1Loss-
RNPC3-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROBO4p.G674E
p.Q610*
p.P262S
Missense
Nonsense
Missense
SNP
SNP
SNP
0.553
0.508
0.440
2--
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
RORCp.R232C
Missense
SNP
0.544
2--
ROS1p.P495S
p.L436F
Missense
Missense
SNP
SNP
0.567
0.514
2--
RP1p.G254E
p.A2064T
p.P1013L
Missense
Missense
Missense
SNP
SNP
SNP
0.202
0.671
0.240
5Amp-
RP11-310K10.1p.G615R
Missense
SNP
0.521
NDND-
RP1L1p.G1010*
Nonsense
SNP
0.672
2--
RP5-1187M17.10p.S437L
p.I403M
Missense
Missense
SNP
SNP
0.273
0.116
NDND-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2p.E70K
Missense
SNP
0.194
2--
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPGRIP1p.T727I
Missense
SNP
0.625
2--
RPGRIP1Lp.R251*
p.M118K
Nonsense
Missense
SNP
SNP
0.359
0.573
2--
RPH3Ap.E148K
p.G657R
Missense
Missense
SNP
SNP
0.436
0.492
2--
RPH3AL-
-
-
-
1Loss-
RPL10Lp.P47S
Missense
SNP
0.472
2--
RPL12-
-
-
-
3Gain-
RPL13A-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL18-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL30-
-
-
-
5Amp-
RPL32-
-
-
-
1Loss-
RPL35-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL7-
-
-
-
5Amp-
RPL7A-
-
-
-
3Gain-
RPL8-
-
-
-
6Amp-
RPN1-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPP38p.D238N
Missense
SNP
0.474
2--
RPRD1Bp.P103L
Missense
SNP
0.680
2--
RPS11-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS20-
-
-
-
5Amp-
RPS5-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS9-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPTORp.D451N
Missense
SNP
0.223
2--
RPUSD1p.P272L
Missense
SNP
0.500
2--
RPUSD2p.S239F
Missense
SNP
0.454
2--
RPUSD3-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RRAS-
-
-
-
1Loss-
RREB1p.P1492L
Missense
SNP
0.210
2--
RRHp.S257F
Missense
SNP
0.691
2--
RRM2B-
-
-
-
5Amp-
RRP1Bp.P737L
Missense
SNP
0.482
2--
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
5Amp-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2p.E54K
Missense
SNP
0.325
3Gain-
RSPH6A-
-
-
-
1Loss-
RSPO2-
-
-
-
5Amp-
RSRC1-
-
-
-
3Gain-
RTKN-
-
-
-
1Loss-
RTKN2p.R33*
Nonsense
SNP
0.282
2--
RTN1p.P769S
Missense
SNP
0.493
2--
RTN2-
-
-
-
1Loss-
RTN4p.M207F
Missense
MNP
0.378
2--
RTN4RL1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUFY1-
-
-
-
1Loss-
RUNDC3Ap.G89E
Missense
SNP
0.746
2--
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
5Amp-
RUSC2-
-
-
-
1Loss-
RUVBL1-
-
-
-
3Gain-
RUVBL2-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXRAp.S43F
Missense
SNP
0.318
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR1p.G1764V
Missense
SNP
0.486
2--
RYR2p.E1858K
p.R3150K
Missense
Missense
SNP
SNP
0.459
0.516
2--
RYR3p.W150*
Nonsense
SNP
0.489
2--
S100A1p.P14L
Missense
SNP
0.455
2--
S1PR3-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SAMD12-
-
-
-
5Amp-
SAMD3p.E534K
Missense
SNP
0.447
2--
SAMD4Bp.S365F
p.P656S
Missense
Missense
SNP
SNP
0.471
0.446
2--
SAMD7-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SAP30-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAPCD2-
-
-
-
3Gain-
SAR1B-
-
-
-
1Loss-
SARDHp.P213F
Missense
MNP
0.310
3Gain-
SAT1p.P72L
Missense
SNP
0.994
NDND-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2p.Q409*
Nonsense
SNP
0.528
2--
SAXO1-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBF2p.D1515N
Missense
SNP
0.600
2--
SBK2p.G284S
Missense
SNP
0.468
2--
SBNO2p.L1303F
Missense
SNP
0.583
1Loss-
SBSPON-
-
-
-
5Amp-
SCAF1p.E492K
p.P812L
p.P1087L
Missense
Missense
Missense
SNP
SNP
SNP
0.769
0.392
0.391
1Loss-
SCAI-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCCPDHp.P127S
Missense
SNP
0.324
3Gain-
SCFD2p.L435F
Missense
SNP
0.504
2--
SCG2p.E333K
Missense
SNP
0.505
2--
SCGB1C2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGNp.D201N
Missense
SNP
0.567
2--
SCHIP1-
-
-
-
3Gain-
SCIMP-
-
-
-
1Loss-
SCINp.S180F
Missense
SNP
0.445
3Gain-
SCML2p.G314E
Missense
SNP
1.000
NDND-
SCN10Ap.P1676S
p.L1286F
Missense
Missense
SNP
SNP
0.295
0.212
1Loss-
SCN11A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCN7Ap.S1154F
Missense
SNP
0.533
2--
SCO1-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRIBp.P1043L
p.A796V
Missense
Missense
SNP
SNP
0.305
0.706
6Amp-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
6Amp-
SCX-
-
-
-
3Gain-
SDC2-
-
-
-
5Amp-
SDCBP-
-
-
-
5Amp-
SDCCAG8-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
5Amp-
SEC13-
-
-
-
1Loss-
SEC16A-
-
-
-
3Gain-
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC23Ap.Q655*
Nonsense
SNP
0.323
2--
SEC24Ap.P213Lfs*9
Frame_Shift_Del
DEL
0.609
1Loss-
SEC24Cp.E343K
Missense
SNP
0.533
2--
SEC61A1-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SECISBP2-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOT-
-
-
-
3Gain-
SELENOW-
-
-
-
1Loss-
SELPp.E302K
Missense
SNP
0.571
2--
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4Dp.S9F
Missense
SNP
0.159
3Gain-
SEMA4Gp.L646S
Missense
SNP
0.465
2--
SEMA5B-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SEPP1p.S342F
Missense
SNP
0.457
NDND-
SEPT14-
-
-
-
3Gain-
SEPT5p.S4F
Missense
SNP
0.512
2--
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERINC5p.P455L
Missense
SNP
0.500
2--
SERP1-
-
-
-
3Gain-
SERPINA1p.E229K
Missense
SNP
0.629
2--
SERPINA10p.G147E
Missense
SNP
0.518
2--
SERPINA6p.E154K
Missense
SNP
0.503
2--
SERPINE1-
-
-
-
3Gain-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SESN2p.G21S
Missense
SNP
0.563
2--
SET-
-
-
-
3Gain-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SETX-
-
-
-
3Gain-
SF3A2-
-
-
-
1Loss-
SF3B2p.D715N
Missense
SNP
0.502
2--
SFMBT1-
-
-
-
1Loss-
SFNp.E75K
Missense
SNP
0.612
2--
SFRP4-
-
-
-
3Gain-
SFXN1-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGK3-
-
-
-
5Amp-
SGO1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D3Ap.P47L
Missense
SNP
0.565
1Loss-
SH2D3C-
-
-
-
3Gain-
SH3BP1p.S544F
Missense
SNP
0.427
2--
SH3BP5-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3D19p.G286E
Missense
SNP
0.691
2--
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3RF3p.X525_splice
Splice_Site
SNP
0.532
2--
SH3TC2-
-
-
-
1Loss-
SH3YL1p.R71S
Missense
SNP
0.500
2--
SHANK1-
-
-
-
1Loss-
SHANK2p.P960S
p.L494F
Missense
Missense
SNP
SNP
0.422
0.489
2--
SHARPIN-
-
-
-
6Amp-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC2p.P460S
Missense
SNP
0.336
1Loss-
SHC3-
-
-
-
3Gain-
SHD-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6p.G390D
Missense
SNP
0.730
1Loss-
SHKBP1p.P685S
Missense
SNP
0.494
2--
SHMT1-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHROOM3p.P273L
Missense
SNP
0.258
2--
SIp.C1410S
Missense
SNP
0.287
3Gain-
SIAH2-
-
-
-
3Gain-
SIDT1p.Q218R
Missense
SNP
0.702
3Gain-
SIDT2p.Q577*
Nonsense
SNP
0.438
2--
SIGLEC1p.N99S
Missense
SNP
0.548
2--
SIGLEC10p.G259R
Missense
SNP
0.500
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12-
-
-
-
1Loss-
SIGLEC14p.G310E
Missense
SNP
0.310
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIK3p.P43S
Missense
SNP
0.489
2--
SIL1-
-
-
-
1Loss-
SIM1p.K708E
Missense
SNP
0.376
2--
SIMC1-
-
-
-
1Loss-
SIN3Ap.P589S
Missense
SNP
0.503
2--
SIPA1p.E199K
Missense
SNP
0.525
2--
SIRT6-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SKA3p.P284L
Missense
SNP
0.412
2--
SKAP2-
-
-
-
3Gain-
SKIL-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SLA-
-
-
-
5Amp-
SLAIN1p.G583E
Missense
SNP
0.534
2--
SLAMF6p.E36K
Missense
SNP
0.480
2--
SLC10A5-
-
-
-
5Amp-
SLC12A2p.L322I
Missense
SNP
0.400
1Loss-
SLC12A3p.G316D
Missense
SNP
0.607
2--
SLC12A6p.F899L
p.S840F
Missense
Missense
SNP
SNP
0.473
0.478
2--
SLC12A8-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1p.V9I
Missense
SNP
0.458
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC15A5p.C253*
Nonsense
SNP
0.479
2--
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14p.R69Pfs*25
Frame_Shift_Del
DEL
0.479
2--
SLC17A7-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A5-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15p.L240F
Missense
SNP
0.444
2--
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A8p.E505K
Missense
SNP
0.504
2--
SLC23A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A20-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A25-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A32-
-
-
-
5Amp-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A47p.E156K
Missense
SNP
0.555
2--
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A7p.A67T
Missense
SNP
0.230
5Amp-
SLC27A4p.P456L
Missense
SNP
0.262
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC28A3-
-
-
-
3Gain-
SLC29A1p.P66S
Missense
SNP
0.623
2--
SLC29A4-
-
-
-
3Gain-
SLC2A11p.P466L
Missense
MNP
0.470
2--
SLC2A2p.G186E
Missense
SNP
0.752
3Gain-
SLC2A3p.P385S
Missense
SNP
0.467
2--
SLC2A4-
-
-
-
1Loss-
SLC2A6-
-
-
-
3Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A8-
-
-
-
5Amp-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC33A1p.E283K
Missense
SNP
0.329
3Gain-
SLC34A1-
-
-
-
1Loss-
SLC34A3-
-
-
-
3Gain-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35D2-
-
-
-
3Gain-
SLC35E2p.I118N
Missense
SNP
0.286
NDND-
SLC35F4p.G267R
Missense
SNP
0.530
2--
SLC35G2-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3p.P390L
Missense
MNP
0.343
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A3-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4-
-
-
-
6Amp-
SLC3A2p.A547V
Missense
SNP
0.505
2--
SLC41A3-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
3Gain-
SLC45A1p.D465N
Missense
SNP
0.440
2--
SLC45A4-
-
-
-
6Amp-
SLC46A2-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC4A2-
-
-
-
3Gain-
SLC4A4p.P772L
Missense
SNP
0.314
2--
SLC4A5-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
6Amp-
SLC5A10-
-
-
-
1Loss-
SLC5A4p.E618K
Missense
SNP
0.607
2--
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A16-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A13-
-
-
-
5Amp-
SLC7A14p.S90F
Missense
SNP
0.247
3Gain-
SLC7A6p.G461E
Missense
SNP
0.602
2--
SLC7A9p.P414H
Missense
SNP
0.528
2--
SLC8A1p.R267Q
Missense
SNP
0.464
2--
SLC8A2p.G8R
Missense
SNP
0.500
1Loss-
SLC8A3p.F464L
p.L89F
Missense
Missense
SNP
SNP
0.547
0.500
2--
SLC9A1p.V22M
Missense
SNP
0.565
2--
SLC9A9-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO1B1p.G159E
Missense
SNP
0.468
2--
SLCO2A1-
-
-
-
3Gain-
SLCO4A1p.W311*;p.V312I
Nonsense
MNP
0.588
2--
SLCO5A1p.R191Q
Missense
SNP
0.293
5Amp-
SLF2p.G922D
Missense
SNP
0.386
2--
SLIT2p.K1425M
Missense
SNP
0.655
2--
SLIT3-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLMAP-
-
-
-
1Loss-
SLURP1-
-
-
-
6Amp-
SLURP2-
-
-
-
6Amp-
SMAD3p.Q354H
Missense
SNP
0.447
2--
SMAD5-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA4p.P265L
Missense
SNP
0.578
2--
SMARCC1-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMC1Bp.E787*
Nonsense
SNP
0.435
2--
SMC2-
-
-
-
3Gain-
SMC4-
-
-
-
3Gain-
SMC5-
-
-
-
3Gain-
SMC6p.P517S
Missense
SNP
0.456
2--
SMCO1-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMG8p.P662S
Missense
SNP
0.812
2--
SMIM17p.E79K
Missense
SNP
0.312
2--
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI2-
-
-
-
5Amp-
SNAP91p.P893S
Missense
SNP
0.355
2--
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNAPC4-
-
-
-
3Gain-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP200p.P1047S
Missense
SNP
0.208
2--
SNRNP27p.G146R
Missense
SNP
0.185
2--
SNRNP70-
-
-
-
1Loss-
SNRPD2-
-
-
-
1Loss-
SNTB1-
-
-
-
5Amp-
SNTG1-
-
-
-
5Amp-
SNTN-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
5Amp-
SNX2-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
5Amp-
SNX4-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOHLH1-
-
-
-
3Gain-
SORBS2p.L391F
Missense
SNP
0.362
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOX1p.P116S
Missense
SNP
0.517
2--
SOX10p.E18K
Missense
SNP
0.532
2--
SOX11p.E9A
p.E103D
Missense
Missense
SNP
SNP
0.600
0.495
2--
SOX14-
-
-
-
3Gain-
SOX15p.P45L
Missense
SNP
0.241
1Loss-
SOX17-
-
-
-
5Amp-
SOX2-
-
-
-
3Gain-
SOX3p.G233D
Missense
SNP
1.000
NDND-
SOX30-
-
-
-
1Loss-
SOX9p.R394Q
Missense
SNP
0.254
2--
SP140p.P60S
Missense
SNP
0.527
2--
SP4-
-
-
-
3Gain-
SP7p.P207L
Missense
SNP
0.542
2--
SP8-
-
-
-
3Gain-
SPAAR-
-
-
-
1Loss-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA9-
-
-
-
3Gain-
SPAG1-
-
-
-
5Amp-
SPAG11Bp.E123K
Missense
SNP
0.200
2--
SPAG16p.T411S
Missense
SNP
0.446
2--
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPAG9p.G270S
Missense
SNP
0.382
2--
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13p.S113F
Missense
SNP
0.508
2--
SPATA16-
-
-
-
3Gain-
SPATA2p.R465C
Missense
SNP
0.344
2--
SPATA20p.P96S
Missense
SNP
0.753
2--
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA31A1-
-
-
-
1Loss-
SPATA31A3-
-
-
-
3Gain-
SPATA31A5-
-
-
-
1Loss-
SPATA31A7-
-
-
-
1Loss-
SPATA31D1p.S273L
Missense
SNP
0.583
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATA6p.S230P
Missense
SNP
0.515
2--
SPATA6L-
-
-
-
1Loss-
SPATC1-
-
-
-
6Amp-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDEFp.G266D
Missense
SNP
1.000
2--
SPDL1-
-
-
-
1Loss-
SPDYE1-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPDYE4p.P213S
Missense
SNP
0.355
1Loss-
SPDYE6-
-
-
-
3Gain-
SPECC1-
-
-
-
1Loss-
SPEGp.S313F
Missense
SNP
0.385
2--
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPENp.A983T
p.P2940S
Missense
Missense
SNP
SNP
0.519
0.517
2--
SPG7p.S257F
Missense
SNP
0.373
2--
SPHK2-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPIDR-
-
-
-
5Amp-
SPIN1-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPIRE1p.R751K
Missense
SNP
0.553
2--
SPNp.P204S
Missense
SNP
0.361
2--
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPON1p.D475Pfs*2
p.W231*
Frame_Shift_Del
Nonsense
DEL
SNP
0.358
0.548
2--
SPOUT1-
-
-
-
3Gain-
SPPL2Bp.P82S
p.P126S
Missense
Missense
SNP
SNP
0.621
0.308
1Loss-
SPRp.E2K
Missense
SNP
0.500
2--
SPRY4-
-
-
-
1Loss-
SPSB1p.Q82*
p.S176F
Nonsense
Missense
SNP
SNP
0.538
0.398
2--
SPSB4-
-
-
-
3Gain-
SPTA1p.P1254S
p.E671K
Missense
Missense
SNP
SNP
0.392
0.473
2--
SPTAN1-
-
-
-
3Gain-
SPTBp.S662F
Missense
SNP
0.440
2--
SPTBN1p.E741K
Missense
SNP
0.485
2--
SPTBN2p.E1957K
p.A1617V
Missense
Missense
SNP
SNP
0.486
0.455
2--
SPTLC1-
-
-
-
3Gain-
SPTSSB-
-
-
-
3Gain-
SQLE-
-
-
-
5Amp-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP1p.E72K
Missense
SNP
0.508
2--
SRGAP3-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRPK1p.R18Q
Missense
SNP
0.192
2--
SRPK2-
-
-
-
3Gain-
SRPRB-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRRM2p.R2742W
Missense
SNP
0.209
2--
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF12-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSBP1-
-
-
-
3Gain-
SSBP4-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSC5Dp.N779S
Missense
SNP
0.487
2--
SSMEM1-
-
-
-
3Gain-
SSNA1-
-
-
-
3Gain-
SSPOp.P2053S
Missense
SNP
0.510
3Gain-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
ST18p.D449N
p.E232K
Missense
Missense
SNP
SNP
0.158
0.260
5Amp-
ST3GAL1-
-
-
-
5Amp-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GALNAC1p.N84T
Missense
SNP
0.227
2--
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC6-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST7Lp.R57K
Missense
SNP
0.559
2--
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STAMBP-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STAT5Ap.P725H
Missense
SNP
0.387
2--
STAU2-
-
-
-
5Amp-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STIMATE-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK3-
-
-
-
5Amp-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STKLD1-
-
-
-
3Gain-
STMN2-
-
-
-
5Amp-
STMN3p.P61S
Missense
SNP
0.563
2--
STMP1-
-
-
-
3Gain-
STOMp.D89H
Missense
SNP
0.188
3Gain-
STOML2-
-
-
-
1Loss-
STON1-GTF2A1Lp.R1041W
Missense
SNP
0.460
2--
STOX2p.E309K
p.E439*
p.D623N
p.E649K
p.E696D
Missense
Nonsense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.233
0.275
0.309
0.247
0.317
1Loss-
STPG3-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRBP-
-
-
-
3Gain-
STRCp.G135E
Missense
SNP
0.309
2--
STRIP2-
-
-
-
3Gain-
STRN4-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX11p.P284L
Missense
SNP
0.454
2--
STX17-
-
-
-
3Gain-
STX19-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX4p.P48S
Missense
SNP
0.590
2--
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
3Gain-
STXBP2p.Q103*
Nonsense
SNP
0.655
1Loss-
STXBP5L-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUGP1p.A285V
Missense
SNP
0.205
1Loss-
SUGP2-
-
-
-
1Loss-
SULF1-
-
-
-
5Amp-
SULT1C3p.D204N
Missense
SNP
0.417
2--
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SULT4A1p.P105L
Missense
SNP
0.515
2--
SULT6B1p.E53K
Missense
SNP
0.671
2--
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SURF1-
-
-
-
3Gain-
SURF2-
-
-
-
3Gain-
SURF4-
-
-
-
3Gain-
SURF6-
-
-
-
3Gain-
SUSD1-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUZ12p.P326L
Missense
MNP
0.676
2--
SVEP1p.P2946S
Missense
SNP
0.368
3Gain-
SVILp.R689Q
Missense
SNP
0.446
2--
SVOPL-
-
-
-
3Gain-
SWI5-
-
-
-
3Gain-
SYBUp.S653L
Missense
SNP
0.248
5Amp-
SYK-
-
-
-
3Gain-
SYMPKp.S870F
Missense
SNP
0.637
1Loss-
SYN2-
-
-
-
1Loss-
SYNGR4-
-
-
-
1Loss-
SYNJ2p.W800*
Nonsense
SNP
0.441
2--
SYNPO-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYT1p.P55L
Missense
SNP
0.525
2--
SYT2p.X307_splice
Splice_Site
SNP
0.356
2--
SYT3-
-
-
-
1Loss-
SYT7p.S411F
Missense
SNP
0.452
2--
SYTL2p.S934F
Missense
SNP
0.433
2--
TAAR6p.S205F
Missense
SNP
0.335
2--
TAC1-
-
-
-
3Gain-
TACC3p.G130R
Missense
SNP
0.700
2--
TADA3-
-
-
-
1Loss-
TAF1Lp.D370N
Missense
SNP
1.000
1Loss-
TAF2-
-
-
-
5Amp-
TAF3p.P803L
Missense
SNP
0.635
2--
TAF4p.P500L
Missense
SNP
0.522
2--
TAF4Bp.I380N
Missense
SNP
0.483
2--
TAF6p.A669T
Missense
SNP
0.472
3Gain-
TAF6Lp.D343H
Missense
SNP
0.517
2--
TAF9p.P103S
Missense
SNP
0.624
2--
TAGLNp.Q96E
Missense
SNP
0.294
2--
TAGLN3-
-
-
-
3Gain-
TAL2-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TARM1-
-
-
-
1Loss-
TAS1R1p.T594I
Missense
SNP
0.542
2--
TAS1R2p.G677E
Missense
SNP
0.524
2--
TAS2R14p.E306K
Missense
SNP
0.488
2--
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TATDN1-
-
-
-
5Amp-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D1p.R289*
Nonsense
SNP
0.529
2--
TBC1D10Bp.S70F
Missense
SNP
0.538
2--
TBC1D12p.P328S
Missense
SNP
0.533
2--
TBC1D13p.X101_splice
Splice_Site
SNP
0.659
3Gain-
TBC1D17-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D22Ap.W2*
Nonsense
SNP
0.494
2--
TBC1D23-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D31-
-
-
-
5Amp-
TBC1D4p.T1147M
Missense
SNP
0.571
2--
TBC1D5-
-
-
-
1Loss-
TBC1D9p.W677*
Nonsense
SNP
0.327
2--
TBC1D9B-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCKp.D22N
Missense
SNP
0.280
2--
TBL1XR1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBPp.E157K
Missense
SNP
0.585
2--
TBRG4-
-
-
-
3Gain-
TBX18p.D279N
Missense
SNP
0.413
2--
TBX20-
-
-
-
3Gain-
TBX22p.N490S
Missense
SNP
1.000
NDND-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
5Amp-
TCEAL2p.R140S
Missense
SNP
1.000
NDND-
TCERG1-
-
-
-
1Loss-
TCERG1Lp.A241V
Missense
SNP
0.441
2--
TCF24-
-
-
-
5Amp-
TCF3-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCF7L2p.P552L
Missense
SNP
0.451
2--
TCHH-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP11X2p.N185K
Missense
SNP
0.494
NDND-
TCTA-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TDGF1-
-
-
-
1Loss-
TDRD5p.G293E
Missense
SNP
0.522
2--
TDRD7p.P40S
Missense
SNP
0.638
3Gain-
TEAD2p.E25K
Missense
SNP
0.540
1Loss-
TECPR1-
-
-
-
3Gain-
TECPR2p.M804I
Missense
SNP
0.437
2--
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENM4p.S454F
Missense
SNP
0.383
2--
TERF1-
-
-
-
5Amp-
TES-
-
-
-
3Gain-
TESK1-
-
-
-
1Loss-
TET1p.P266L
Missense
SNP
0.489
2--
TET3p.P1617L
Missense
SNP
0.608
1Loss-
TEX10-
-
-
-
3Gain-
TEX14p.T1208I
Missense
SNP
0.648
2--
TEX15p.S1500F
p.E511K
Missense
Missense
SNP
SNP
0.343
0.384
2--
TEX264-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TEX48-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAP2Dp.G262S
Missense
SNP
0.421
2--
TFB2M-
-
-
-
3Gain-
TFDP2-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFGp.P265S
Missense
SNP
0.702
3Gain-
TFPI2-
-
-
-
3Gain-
TFPT-
-
-
-
1Loss-
TFR2-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
TGp.W1368*
Nonsense
SNP
0.093
5Amp-
TGFBI-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGS1-
-
-
-
5Amp-
THAP5-
-
-
-
3Gain-
THAP8p.G243R
Missense
SNP
0.495
2--
THAP9p.F25I
Missense
SNP
0.321
2--
THEG-
-
-
-
1Loss-
THEM6-
-
-
-
6Amp-
THG1L-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THSD1p.P571L
Missense
SNP
0.462
2--
THSD7Ap.P1205S
Missense
SNP
0.542
3Gain-
THSD7Bp.P429L
Missense
SNP
0.528
2--
THUMPD3-
-
-
-
1Loss-
THY1p.S17F
Missense
SNP
0.388
2--
TICAM1p.P488S
Missense
SNP
0.642
1Loss-
TIE1p.G767S
Missense
SNP
0.528
2--
TIFAB-
-
-
-
1Loss-
TIGD5-
-
-
-
6Amp-
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMD4-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TJP2-
-
-
-
3Gain-
TJP3p.G412S
Missense
SNP
0.333
1Loss-
TKT-
-
-
-
1Loss-
TLCD2p.G73C
Missense
SNP
0.692
1Loss-
TLDC2p.E210Gfs*22
Frame_Shift_Ins
INS
0.288
2--
TLE1-
-
-
-
3Gain-
TLE2-
-
-
-
1Loss-
TLE4p.D315G
Missense
SNP
0.639
3Gain-
TLE6-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR4-
-
-
-
3Gain-
TLR9p.P109S
Missense
SNP
0.695
1Loss-
TLX2-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF1p.G161E
Missense
SNP
0.438
2--
TM6SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMC1p.T297I
Missense
SNP
0.599
3Gain-
TMC4-
-
-
-
1Loss-
TMC6p.M168T
Missense
SNP
0.722
2--
TMCC1-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM114p.S188F
Missense
SNP
0.446
2--
TMEM115-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM132Bp.E100K
p.E340K
Missense
Missense
SNP
SNP
0.562
0.495
2--
TMEM132Dp.E195K
Missense
SNP
0.383
2--
TMEM135p.E135K
Missense
SNP
0.422
2--
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM141-
-
-
-
3Gain-
TMEM143-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM173-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM190p.P119S
Missense
SNP
0.478
2--
TMEM196-
-
-
-
3Gain-
TMEM198p.A6V
p.E270K
Missense
Missense
SNP
SNP
0.446
0.536
2--
TMEM200Cp.D389N
Missense
SNP
0.528
2--
TMEM203-
-
-
-
3Gain-
TMEM207-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM210-
-
-
-
3Gain-
TMEM212-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM215-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM230p.P105S
Missense
SNP
0.373
2--
TMEM243-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
6Amp-
TMEM250-
-
-
-
3Gain-
TMEM252-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM268-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM37p.F104I
Missense
SNP
0.433
2--
TMEM38B-
-
-
-
3Gain-
TMEM39A-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM59L-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM64-
-
-
-
5Amp-
TMEM65-
-
-
-
5Amp-
TMEM67-
-
-
-
5Amp-
TMEM68-
-
-
-
5Amp-
TMEM70-
-
-
-
5Amp-
TMEM71-
-
-
-
5Amp-
TMEM74-
-
-
-
5Amp-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMIGD3p.Q23E
Missense
SNP
0.347
2--
TMOD1-
-
-
-
3Gain-
TMPPEp.L144F
Missense
SNP
0.311
1Loss-
TMPRSS6p.S317F
Missense
SNP
0.491
2--
TMPRSS7p.G59D
Missense
SNP
0.324
3Gain-
TMPRSS9-
-
-
-
1Loss-
TMUB1-
-
-
-
3Gain-
TNC-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
5Amp-
TNFRSF13B-
-
-
-
1Loss-
TNFSF10-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF15-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNFSF9-
-
-
-
1Loss-
TNIKp.Q702*
Nonsense
SNP
0.734
3Gain-
TNIP1-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNKS2p.D981N
Missense
SNP
0.457
2--
TNNC1-
-
-
-
1Loss-
TNP1p.G27D
Missense
SNP
0.427
2--
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXBp.Q242*
Nonsense
SNP
0.996
2--
TOM1L2-
-
-
-
1Loss-
TOMM40-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM7-
-
-
-
3Gain-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
6Amp-
TOP1MT-
-
-
-
6Amp-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
1Loss-
TOR1A-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR4A-
-
-
-
3Gain-
TOX-
-
-
-
5Amp-
TOX2p.V276A
Missense
SNP
0.617
2--
TOX3p.M136R
Missense
SNP
0.430
2--
TP53p.R306*
p.R273L
Nonsense
Missense
SNP
SNP
0.662
0.304
1Loss-
TP53BP1p.I233K
Missense
SNP
0.413
2--
TP53BP2p.S381F
Missense
SNP
0.564
2--
TP53INP1-
-
-
-
5Amp-
TP63-
-
-
-
3Gain-
TPD52-
-
-
-
5Amp-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM2-
-
-
-
1Loss-
TPP1p.P156L
Missense
SNP
0.529
2--
TPP2p.E665K
p.Y991S
Missense
Missense
SNP
SNP
0.667
0.426
2--
TPRp.Y540H
Missense
SNP
0.354
2--
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRG1Lp.R79C
Missense
SNP
0.385
2--
TPRN-
-
-
-
3Gain-
TPRX1-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRAF1-
-
-
-
3Gain-
TRAF2-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
5Amp-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC11p.P922F
Missense
MNP
0.550
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC3p.L133F
Missense
SNP
0.571
2--
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TRAPPC9-
-
-
-
5Amp-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
3Gain-
TRERF1p.P616L
Missense
SNP
0.366
2--
TREX1-
-
-
-
1Loss-
TRGV2p.E58K
Missense
SNP
0.526
NDND-
TRH-
-
-
-
3Gain-
TRHR-
-
-
-
5Amp-
TRIB1-
-
-
-
5Amp-
TRIL-
-
-
-
3Gain-
TRIM14-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29p.S130F
Missense
SNP
0.505
2--
TRIM32-
-
-
-
3Gain-
TRIM36-
-
-
-
1Loss-
TRIM4-
-
-
-
3Gain-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
3Gain-
TRIM46p.P623L
p.E644K
p.P679S
Missense
Missense
Missense
SNP
SNP
SNP
0.593
0.570
0.590
2--
TRIM49Bp.H69Y
Missense
SNP
0.496
1Loss-
TRIM50-
-
-
-
3Gain-
TRIM51GP-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM55-
-
-
-
5Amp-
TRIM56-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM64C-
-
-
-
1Loss-
TRIM68p.R83Vfs*3
Frame_Shift_Del
DEL
0.516
2--
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIOBPp.R1567Q
Missense
SNP
0.466
2--
TRIP10-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
5Amp-
TRMO-
-
-
-
3Gain-
TRMT1p.H423Y
Missense
SNP
0.482
2--
TRMT10B-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT12-
-
-
-
5Amp-
TRNT1-
-
-
-
1Loss-
TRPA1p.E16D
Missense
SNP
0.254
5Amp-
TRPC1-
-
-
-
3Gain-
TRPC4p.G693E
Missense
SNP
0.592
2--
TRPC7p.S215L
Missense
SNP
0.393
1Loss-
TRPM2p.G28R
Missense
SNP
1.000
2--
TRPM3-
-
-
-
3Gain-
TRPM4-
-
-
-
1Loss-
TRPM6-
-
-
-
3Gain-
TRPM7p.D609H
Missense
SNP
0.198
2--
TRPS1-
-
-
-
5Amp-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4p.P211L
Missense
SNP
0.582
2--
TRPV5p.M577I
Missense
SNP
1.000
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAPp.S722F
Missense
SNP
0.465
3Gain-
TRUB2-
-
-
-
3Gain-
TSC1-
-
-
-
3Gain-
TSC22D2-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSEN34-
-
-
-
1Loss-
TSGA10p.E500K
Missense
SNP
0.548
2--
TSGA13-
-
-
-
3Gain-
TSHZ1p.P659S
Missense
SNP
0.478
2--
TSHZ3p.S1067F
Missense
SNP
0.384
2--
TSKS-
-
-
-
1Loss-
TSNARE1-
-
-
-
6Amp-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPEARp.G595E
Missense
SNP
1.000
2--
TSPYL4p.N249I
Missense
SNP
0.456
2--
TSPYL5-
-
-
-
5Amp-
TSR1-
-
-
-
1Loss-
TSSK1Bp.P280S
Missense
SNP
0.462
2--
TSSK6-
-
-
-
1Loss-
TSTA3-
-
-
-
6Amp-
TSTD2-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TTC16p.E634K
Missense
SNP
1.000
3Gain-
TTC17p.T878I
Missense
SNP
0.523
2--
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC26-
-
-
-
3Gain-
TTC31-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC6p.P117L
Missense
SNP
0.506
2--
TTF1-
-
-
-
3Gain-
TTLL11-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTNp.E33183Sfs*16
p.E31103K
p.P20066L
p.R18858L
p.R15083Q
p.E10002A
p.L8389F
p.V4556I
p.E3788K
p.L1271F
p.P309S
p.G85R
Frame_Shift_Del
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
DEL
SNP
MNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.414
0.469
0.421
0.090
0.433
0.560
0.478
0.396
0.414
0.449
0.255
0.410
2--
TTPA-
-
-
-
5Amp-
TTYH1-
-
-
-
1Loss-
TTYH3-
-
-
-
3Gain-
TUBA3Cp.A174V
Missense
SNP
0.478
2--
TUBB2Bp.G132S
Missense
SNP
0.762
2--
TUBB4Ap.G104R
Missense
SNP
0.603
1Loss-
TUBB4B-
-
-
-
3Gain-
TUBGCP4p.R443W
Missense
SNP
0.507
2--
TULP2-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUT1p.G6E
Missense
SNP
0.554
2--
TUT7-
-
-
-
3Gain-
TVP23Bp.W92*
Nonsense
SNP
0.618
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXN-
-
-
-
3Gain-
TXNDC15-
-
-
-
1Loss-
TXNDC16p.F135Y
Missense
SNP
0.412
2--
TXNDC17-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UAP1L1-
-
-
-
3Gain-
UBA1p.P840S
Missense
SNP
1.000
NDND-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
3Gain-
UBA52-
-
-
-
1Loss-
UBA6p.S629F
Missense
SNP
0.280
2--
UBA7-
-
-
-
1Loss-
UBAC1-
-
-
-
3Gain-
UBALD1p.G56E
Missense
SNP
0.344
2--
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBASH3Ap.G320E
p.G632E
Missense
Missense
SNP
SNP
0.427
0.394
2--
UBB-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J1-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2R2-
-
-
-
1Loss-
UBE2V2-
-
-
-
5Amp-
UBE2W-
-
-
-
5Amp-
UBE3C-
-
-
-
3Gain-
UBFD1p.P217S
Missense
SNP
0.394
2--
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1p.S408N
Missense
SNP
0.303
3Gain-
UBR4p.N2781K
Missense
SNP
0.514
2--
UBR5p.I1130Lfs*11
Frame_Shift_Del
DEL
0.159
5Amp-
UBTD2-
-
-
-
1Loss-
UBXN2B-
-
-
-
5Amp-
UBXN6-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCK1-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UFSP2-
-
-
-
1Loss-
UGCG-
-
-
-
3Gain-
UGGT2p.R369*
Nonsense
SNP
0.519
2--
UGT1A3p.S221F
Missense
SNP
0.471
2--
UGT1A4p.L5F
Missense
SNP
0.625
2--
UGT2A3-
-
-
-
1Loss-
UGT2B10p.Q100*
Nonsense
SNP
0.641
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4p.P66S
Missense
SNP
0.323
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1p.P324S
Missense
SNP
0.544
2--
UHRF1-
-
-
-
1Loss-
UHRF1BP1p.S690F
Missense
SNP
0.600
2--
UHRF1BP1Lp.L392R
Missense
MNP
0.500
2--
UHRF2-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMODL1p.P809S
Missense
SNP
0.543
2--
UMPS-
-
-
-
3Gain-
UNC119p.P197L
Missense
SNP
0.730
2--
UNC13B-
-
-
-
1Loss-
UNC13Cp.G1624E
Missense
SNP
0.495
2--
UNC5A-
-
-
-
1Loss-
UNC79p.P594S
Missense
SNP
0.507
2--
UNC80p.S1074F
Missense
SNP
0.564
2--
UNCX-
-
-
-
3Gain-
UNKLp.P397F
Missense
MNP
0.227
2--
UPF1p.P119L
p.P894L
Missense
Missense
SNP
MNP
0.308
0.358
1Loss-
UPK1B-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCR11-
-
-
-
1Loss-
UQCRB-
-
-
-
5Amp-
UQCRC1-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URM1-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
USF3-
-
-
-
3Gain-
USP13-
-
-
-
3Gain-
USP19-
-
-
-
1Loss-
USP20p.S737F
Missense
SNP
0.355
3Gain-
USP28p.S996F
p.S943F
Missense
Missense
SNP
SNP
0.497
0.479
2--
USP29-
-
-
-
1Loss-
USP33p.H666N
Missense
SNP
0.590
2--
USP34p.E2480K
p.K1659N
Missense
Missense
SNP
SNP
0.611
0.341
2--
USP35p.E361D;p.D362N
Missense
MNP
0.488
2--
USP4p.S595F
Missense
SNP
0.616
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
UTP23-
-
-
-
5Amp-
UTRNp.E2404K
p.G3386D
Missense
Missense
SNP
SNP
0.667
0.312
2--
UTS2B-
-
-
-
3Gain-
UXS1p.P410S
Missense
SNP
0.348
2--
VAMP2-
-
-
-
1Loss-
VASP-
-
-
-
1Loss-
VAV1-
-
-
-
1Loss-
VAV2-
-
-
-
3Gain-
VAV3p.G536R
Missense
SNP
0.443
2--
VAX2p.S226F
Missense
SNP
0.500
2--
VCANp.P1156F
p.D2529N
Missense
Missense
MNP
SNP
0.575
0.500
2--
VCLp.S774F
Missense
SNP
0.417
2--
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
5Amp-
VDAC1-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
5Amp-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPS13Ap.S2069F
Missense
SNP
0.419
3Gain-
VPS13B-
-
-
-
5Amp-
VPS13Cp.L1395F
Missense
SNP
0.468
2--
VPS13Dp.S351F
p.S4205L
Missense
Missense
SNP
SNP
0.459
0.388
2--
VPS28-
-
-
-
6Amp-
VPS33Bp.E292K
p.R290Q
Missense
Missense
SNP
SNP
0.538
0.456
2--
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS8p.G278E
p.P775S
p.V889I
Missense
Missense
Missense
SNP
SNP
SNP
0.283
0.778
0.713
3Gain-
VRK3-
-
-
-
1Loss-
VSIG10L-
-
-
-
1Loss-
VSTM1-
-
-
-
1Loss-
VSTM2A-
-
-
-
3Gain-
VWA5B1p.R379*
p.P1102S
Nonsense
Missense
SNP
SNP
0.588
0.539
2--
VWA5B2-
-
-
-
3Gain-
VWA8p.F1218L
Missense
SNP
0.462
2--
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VWFp.S2516Vfs*21
p.S1486L
Frame_Shift_Del
Missense
DEL
SNP
0.490
0.489
2--
VXN-
-
-
-
5Amp-
WASF1p.L375F
p.R202Q
Missense
Missense
SNP
SNP
0.606
0.362
2--
WASHC5-
-
-
-
5Amp-
WASL-
-
-
-
3Gain-
WBP1-
-
-
-
1Loss-
WBSCR17p.G425E
Missense
SNP
0.412
NDND-
WDFY4p.A1839V
p.E2278K
Missense
Missense
SNP
SNP
0.434
0.444
2--
WDR17p.H338Y
p.R458Q
Missense
Missense
SNP
SNP
0.447
0.692
1Loss-
WDR18p.S205L
Missense
SNP
0.268
1Loss-
WDR31-
-
-
-
3Gain-
WDR34-
-
-
-
3Gain-
WDR35p.Q501*
p.P291S
Nonsense
Missense
SNP
SNP
0.436
0.491
2--
WDR38-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR5-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR54-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
3Gain-
WDR6-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR76p.R196K
p.S482F
Missense
Missense
SNP
SNP
0.580
0.381
2--
WDR81p.G714S
Missense
SNP
0.211
1Loss-
WDR82-
-
-
-
1Loss-
WDR86-
-
-
-
3Gain-
WDR87p.E1972K
Missense
SNP
0.455
2--
WDR91-
-
-
-
3Gain-
WDR97-
-
-
-
6Amp-
WDYHV1-
-
-
-
5Amp-
WEE2-
-
-
-
3Gain-
WFDC1p.G150R
Missense
SNP
0.596
2--
WFDC12p.G57R
Missense
SNP
0.538
2--
WHRN-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
5Amp-
WNK2-
-
-
-
3Gain-
WNK3p.S349F
Missense
SNP
1.000
NDND-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT5A-
-
-
-
1Loss-
WNT7Ap.G285S
Missense
SNP
0.297
1Loss-
WNT8A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WSB1p.P299S
Missense
SNP
0.289
2--
WSCD1p.A321E
Missense
SNP
0.606
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWP1-
-
-
-
5Amp-
WWP2p.G478R
p.X838_splice
Missense
Splice_Site
SNP
SNP
0.392
0.581
2--
WWTR1-
-
-
-
3Gain-
XAB2-
-
-
-
1Loss-
XAF1p.P241T
Missense
SNP
0.714
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1p.E1541K
p.P1444L
Missense
Missense
SNP
SNP
0.634
0.227
1Loss-
XIRP2p.R1437Q
p.G2938E
Missense
Missense
SNP
SNP
0.466
0.493
2--
XKR4-
-
-
-
5Amp-
XKR6p.G90R
Missense
SNP
0.565
2--
XKR9-
-
-
-
5Amp-
XPA-
-
-
-
3Gain-
XPCp.V681E
Missense
SNP
0.208
1Loss-
XRCC2-
-
-
-
3Gain-
XRCC6p.I223T
Missense
SNP
0.316
2--
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YAP1p.A153V
Missense
SNP
0.426
2--
YBX2-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YLPM1p.S468F
Missense
SNP
0.483
2--
YTHDF3-
-
-
-
5Amp-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
5Amp-
Z84492.1-
-
-
-
1Loss-
ZANp.E729K
p.P913L
Missense
Missense
SNP
SNP
0.416
0.451
3Gain-
ZAR1Lp.Q104H
Missense
SNP
0.545
2--
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBP1p.E99K
Missense
SNP
0.387
2--
ZBTB10-
-
-
-
5Amp-
ZBTB11-
-
-
-
3Gain-
ZBTB16p.D367N
Missense
SNP
0.497
2--
ZBTB18-
-
-
-
3Gain-
ZBTB20-
-
-
-
3Gain-
ZBTB26-
-
-
-
3Gain-
ZBTB34-
-
-
-
3Gain-
ZBTB38-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB43p.P13S
Missense
SNP
0.380
3Gain-
ZBTB45-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB5p.S577F
Missense
SNP
1.000
1Loss-
ZBTB6-
-
-
-
3Gain-
ZBTB7A-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
5Amp-
ZC3H13p.R671K
p.P495L
p.P365L
Missense
Missense
Missense
SNP
SNP
SNP
0.528
0.429
0.519
2--
ZC3H14p.D71N
Missense
SNP
0.333
2--
ZC3H3-
-
-
-
6Amp-
ZC3H4-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC18p.G30E
Missense
SNP
1.000
NDND-
ZCCHC7-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZCWPW2-
-
-
-
1Loss-
ZDBF2p.P1916S
Missense
SNP
0.448
2--
ZDHHC12-
-
-
-
3Gain-
ZDHHC19p.R268K
Missense
SNP
0.601
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZER1-
-
-
-
3Gain-
ZFAND1-
-
-
-
5Amp-
ZFAND2A-
-
-
-
3Gain-
ZFAND5-
-
-
-
3Gain-
ZFATp.D1113N
Missense
SNP
0.095
5Amp-
ZFHX2p.G2528E
Missense
SNP
0.500
2--
ZFHX4p.E2255K
p.P3122S
Missense
Missense
SNP
SNP
0.744
0.274
5Amp-
ZFP2-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP36L2p.D32N
p.E19K
Missense
Missense
SNP
SNP
0.515
0.485
2--
ZFP37-
-
-
-
3Gain-
ZFP41-
-
-
-
6Amp-
ZFP42-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP69Bp.L66*
p.P240L
Frame_Shift_Del
Missense
DEL
SNP
0.450
0.458
2--
ZFP92p.N166S
Missense
SNP
1.000
NDND-
ZFPL1p.P135S
Missense
SNP
0.503
2--
ZFPM2-
-
-
-
5Amp-
ZFR2-
-
-
-
1Loss-
ZFYVE16p.S662L
Missense
SNP
0.373
2--
ZFYVE26p.P2455L
Missense
MNP
0.542
2--
ZFYVE27p.E244K
Missense
SNP
0.456
2--
ZHX1-
-
-
-
5Amp-
ZHX1-C8orf76-
-
-
-
5Amp-
ZHX2-
-
-
-
5Amp-
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3p.K82*
Nonsense
SNP
0.321
1Loss-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMAT3-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMYM3p.G401E
p.P93S
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND19p.S116F
Missense
SNP
0.344
3Gain-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF106p.Q1185K
Missense
SNP
0.500
2--
ZNF107-
-
-
-
3Gain-
ZNF114-
-
-
-
1Loss-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF121p.H194Y
Missense
SNP
0.487
2--
ZNF124-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135p.G430K
Missense
MNP
0.298
1Loss-
ZNF138-
-
-
-
3Gain-
ZNF14-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF154-
-
-
-
1Loss-
ZNF155p.K306*
Nonsense
SNP
0.514
2--
ZNF157p.E487K
Missense
SNP
1.000
NDND-
ZNF16-
-
-
-
6Amp-
ZNF160p.M660I
Missense
SNP
0.274
1Loss-
ZNF169-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF184p.G554E
Missense
SNP
1.000
2--
ZNF189-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF213p.S374F
Missense
SNP
0.555
2--
ZNF214p.G289*
Nonsense
SNP
0.515
2--
ZNF229p.E102K
Missense
SNP
0.493
2--
ZNF232-
-
-
-
1Loss-
ZNF250-
-
-
-
6Amp-
ZNF251-
-
-
-
6Amp-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF260p.H326Y
Missense
SNP
0.478
2--
ZNF264-
-
-
-
1Loss-
ZNF273-
-
-
-
3Gain-
ZNF274-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF28-
-
-
-
1Loss-
ZNF280Ap.V220A
Missense
SNP
0.431
2--
ZNF282-
-
-
-
3Gain-
ZNF284p.R499C
Missense
SNP
0.500
2--
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF296-
-
-
-
1Loss-
ZNF3-
-
-
-
3Gain-
ZNF300p.S379F
Missense
SNP
0.569
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF320-
-
-
-
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF331p.P382L
Missense
SNP
0.239
1Loss-
ZNF335p.S991F
Missense
SNP
0.605
2--
ZNF33Ap.T217A
Missense
SNP
0.394
2--
ZNF34-
-
-
-
6Amp-
ZNF346-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF37Ap.K535R
Missense
SNP
0.411
2--
ZNF385D-
-
-
-
1Loss-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF425p.H492Y
Missense
SNP
1.000
3Gain-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF433p.E615K
Missense
SNP
0.481
2--
ZNF438p.P598L
Missense
SNP
0.455
2--
ZNF444p.P325S
Missense
SNP
0.553
2--
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF45p.S219L
Missense
SNP
0.514
2--
ZNF454-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF462p.V2360A
Missense
SNP
0.300
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF468-
-
-
-
1Loss-
ZNF469p.R2054Q
Missense
SNP
0.476
2--
ZNF470p.S104L
Missense
SNP
0.557
2--
ZNF473-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF480-
-
-
-
1Loss-
ZNF483-
-
-
-
3Gain-
ZNF484p.H352Y
Missense
SNP
0.357
3Gain-
ZNF486-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
3Gain-
ZNF497-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF517-
-
-
-
6Amp-
ZNF518Ap.P1353L
Missense
SNP
0.469
2--
ZNF521p.G102E
Missense
SNP
0.590
2--
ZNF525-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF536p.P24L
Missense
SNP
0.445
2--
ZNF541p.S792F
Missense
SNP
0.344
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544p.G610E
Missense
SNP
0.297
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557p.S166F
Missense
SNP
0.343
1Loss-
ZNF569p.R458K
p.Q104*
Missense
Nonsense
SNP
SNP
0.573
0.378
2--
ZNF57-
-
-
-
1Loss-
ZNF572p.E49K
Missense
SNP
0.817
5Amp-
ZNF577-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF594p.H643Y
Missense
SNP
0.598
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF606p.H618Y
Missense
SNP
0.400
1Loss-
ZNF607p.H471Y
Missense
SNP
0.434
2--
ZNF608-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614p.N458Y;p.C457*
Nonsense
MNP
0.563
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF618-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
6Amp-
ZNF624-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF646p.R897K
Missense
SNP
0.357
2--
ZNF648p.G472D
Missense
SNP
0.404
2--
ZNF649-
-
-
-
1Loss-
ZNF654-
-
-
-
1Loss-
ZNF655-
-
-
-
3Gain-
ZNF658-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF667p.R58L
Missense
SNP
0.274
2--
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF683p.G387E
Missense
SNP
0.500
2--
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF696-
-
-
-
6Amp-
ZNF7-
-
-
-
6Amp-
ZNF701-
-
-
-
1Loss-
ZNF704-
-
-
-
5Amp-
ZNF706-
-
-
-
5Amp-
ZNF707-
-
-
-
6Amp-
ZNF708-
-
-
-
1Loss-
ZNF713-
-
-
-
3Gain-
ZNF714-
-
-
-
1Loss-
ZNF716-
-
-
-
4Gain-
ZNF717-
-
-
-
1Loss-
ZNF721p.C702S
Missense
SNP
0.656
2--
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF728-
-
-
-
1Loss-
ZNF729p.A736G
p.S748A
Missense
Missense
SNP
SNP
0.202
0.220
1Loss-
ZNF730p.E259K
Missense
SNP
0.337
1Loss-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF746-
-
-
-
3Gain-
ZNF749p.P480S
Missense
SNP
0.608
1Loss-
ZNF761p.R737C
Missense
SNP
0.691
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
3Gain-
ZNF782-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF79-
-
-
-
3Gain-
ZNF793p.S347F
Missense
SNP
0.498
2--
ZNF8-
-
-
-
1Loss-
ZNF80p.R234Q
Missense
SNP
0.271
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF841-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860p.H364Y
Missense
SNP
0.718
1Loss-
ZNF862-
-
-
-
3Gain-
ZNF879-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF883-
-
-
-
3Gain-
ZNF888-
-
-
-
1Loss-
ZNF90p.G132E
Missense
SNP
0.217
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF92-
-
-
-
3Gain-
ZNF93-
-
-
-
1Loss-
ZNF98p.E118K
Missense
SNP
0.351
1Loss-
ZNF99p.P508L
p.H335Y
Missense
Missense
SNP
SNP
0.300
0.765
1Loss-
ZNHIT1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZNRF4-
-
-
-
1Loss-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPLD1-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN20p.P502L
Missense
SNP
0.556
2--
ZSCAN21-
-
-
-
3Gain-
ZSCAN22p.S238F
Missense
SNP
0.690
1Loss-
ZSCAN25-
-
-
-
3Gain-
ZSCAN4-
-
-
-
1Loss-
ZSWIM2p.S504L
Missense
SNP
0.474
2--
ZSWIM3p.P299S
Missense
SNP
0.614
2--
ZSWIM7-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZXDCp.G734R
Missense
SNP
0.684
3Gain-
ZYX-
-
-
-
3Gain-
ZZEF1p.H2928Y
Missense
SNP
0.588
1Loss-