PDMR-415371~026-R~YR0-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1LossND
A2ML1p.G385E
Missense
SNP
0.350
2-ND
A4GNT-
-
-
-
3GainND
AADAC-
-
-
-
3GainND
AADACL2-
-
-
-
3GainND
AARD-
-
-
-
5AmpND
AASDHp.G435R
Missense
SNP
0.371
2-ND
AASS-
-
-
-
3GainND
ABCA1p.P582L
Missense
SNP
0.315
3GainND
ABCA13p.R4214Q
p.Q4732*
p.K4959N
Missense
Nonsense
Missense
SNP
SNP
SNP
0.381
0.478
0.388
3GainND
ABCA2-
-
-
-
3GainND
ABCA7-
-
-
-
1LossND
ABCA8p.F1234Y
Missense
SNP
0.241
2-ND
ABCB1-
-
-
-
3GainND
ABCB10-
-
-
-
3GainND
ABCB4-
-
-
-
3GainND
ABCB5p.V249I
Missense
SNP
0.535
3GainND
ABCB8-
-
-
-
3GainND
ABCC11p.E358V
Missense
SNP
0.628
2-ND
ABCC5-
-
-
-
3GainND
ABCC6p.E1075K
Missense
SNP
0.580
2-ND
ABCC9p.S740F
Missense
SNP
0.522
2-ND
ABCF2-
-
-
-
3GainND
ABCF3-
-
-
-
3GainND
ABCG2p.G80K
Missense
MNP
0.373
2-ND
ABCG4p.P322L
Missense
SNP
0.383
2-ND
ABHD10-
-
-
-
3GainND
ABHD11p.L152R
Missense
SNP
0.409
3GainND
ABHD14A-
-
-
-
1LossND
ABHD14A-ACY1-
-
-
-
1LossND
ABHD14B-
-
-
-
1LossND
ABHD15p.P227S
Missense
SNP
0.606
2-ND
ABHD17A-
-
-
-
1LossND
ABHD17B-
-
-
-
3GainND
ABHD4-
-
-
-
1LossND
ABHD5-
-
-
-
1LossND
ABHD6-
-
-
-
1LossND
ABI3p.S308L
Missense
SNP
0.250
2-ND
ABI3BP-
-
-
-
3GainND
ABL1-
-
-
-
3GainND
ABL2-
-
-
-
3GainND
ABLIM1p.S756F
Missense
SNP
0.383
2-ND
ABLIM3-
-
-
-
1LossND
ABO-
-
-
-
3GainND
ABRA-
-
-
-
5AmpND
ABTB1-
-
-
-
3GainND
AC000120.2-
-
-
-
3GainND
AC000120.3-
-
-
-
3GainND
AC002985.1-
-
-
-
1LossND
AC003002.1-
-
-
-
1LossND
AC003002.2-
-
-
-
1LossND
AC003002.3-
-
-
-
1LossND
AC003005.1-
-
-
-
1LossND
AC003006.1-
-
-
-
1LossND
AC004076.1-
-
-
-
1LossND
AC004080.3-
-
-
-
3GainND
AC004593.3-
-
-
-
3GainND
AC004691.2-
-
-
-
3GainND
AC004922.1-
-
-
-
3GainND
AC005020.2-
-
-
-
3GainND
AC005041.1-
-
-
-
1LossND
AC005154.5-
-
-
-
3GainND
AC005258.1-
-
-
-
1LossND
AC005779.2-
-
-
-
1LossND
AC005943.1-
-
-
-
1LossND
AC006030.1-
-
-
-
1LossND
AC006059.2-
-
-
-
1LossND
AC006254.1-
-
-
-
1LossND
AC006538.2-
-
-
-
1LossND
AC006978.2-
-
-
-
3GainND
AC008403.1-
-
-
-
1LossND
AC008575.1-
-
-
-
1LossND
AC008581.2-
-
-
-
1LossND
AC008676.3-
-
-
-
1LossND
AC008687.4-
-
-
-
1LossND
AC008687.8-
-
-
-
1LossND
AC008695.1-
-
-
-
1LossND
AC008750.8-
-
-
-
1LossND
AC008758.1-
-
-
-
1LossND
AC008758.4-
-
-
-
1LossND
AC008758.5-
-
-
-
1LossND
AC008758.6-
-
-
-
1LossND
AC008763.2-
-
-
-
1LossND
AC008763.3-
-
-
-
1LossND
AC008770.1-
-
-
-
1LossND
AC008770.2-
-
-
-
1LossND
AC008878.1-
-
-
-
1LossND
AC008878.2-
-
-
-
1LossND
AC008878.3-
-
-
-
1LossND
AC009879.2-
-
-
-
5AmpND
AC009879.3-
-
-
-
5AmpND
AC010132.3-
-
-
-
3GainND
AC010255.3-
-
-
-
1LossND
AC010323.1-
-
-
-
1LossND
AC010422.3-
-
-
-
1LossND
AC010422.6-
-
-
-
1LossND
AC010487.3-
-
-
-
1LossND
AC010522.1-
-
-
-
1LossND
AC010615.4-
-
-
-
1LossND
AC010619.1-
-
-
-
1LossND
AC011005.1-
-
-
-
3GainND
AC011448.1-
-
-
-
1LossND
AC011452.1-
-
-
-
1LossND
AC011473.4-
-
-
-
1LossND
AC011498.4-
-
-
-
1LossND
AC011499.1-
-
-
-
1LossND
AC011530.1-
-
-
-
1LossND
AC012213.5-
-
-
-
5AmpND
AC018755.2-
-
-
-
1LossND
AC019117.2-
-
-
-
3GainND
AC020636.2-
-
-
-
3GainND
AC020909.1-
-
-
-
1LossND
AC020915.1-
-
-
-
1LossND
AC020915.5-
-
-
-
1LossND
AC021097.2-
-
-
-
3GainND
AC021097.3-
-
-
-
3GainND
AC021660.3-
-
-
-
3GainND
AC022384.1-
-
-
-
1LossND
AC022414.1-
-
-
-
1LossND
AC022826.2-
-
-
-
5AmpND
AC024592.3-
-
-
-
1LossND
AC026316.5-
-
-
-
3GainND
AC026398.1-
-
-
-
1LossND
AC027644.4-
-
-
-
3GainND
AC036214.3-
-
-
-
5AmpND
AC068533.4-
-
-
-
3GainND
AC068631.2-
-
-
-
3GainND
AC069257.3-
-
-
-
3GainND
AC069444.2-
-
-
-
3GainND
AC073111.3-
-
-
-
3GainND
AC079594.2-
-
-
-
3GainND
AC083800.1-
-
-
-
3GainND
AC090004.1-
-
-
-
1LossND
AC091959.3-
-
-
-
1LossND
AC092017.3-
-
-
-
3GainND
AC092042.3-
-
-
-
1LossND
AC092329.3-
-
-
-
1LossND
AC092647.5-
-
-
-
3GainND
AC093668.2-
-
-
-
3GainND
AC093668.3-
-
-
-
3GainND
AC096887.1-
-
-
-
1LossND
AC097634.4-
-
-
-
1LossND
AC097636.1-
-
-
-
1LossND
AC097637.1-
-
-
-
1LossND
AC098650.1-
-
-
-
1LossND
AC100868.1-
-
-
-
5AmpND
AC104109.3-
-
-
-
1LossND
AC104304.1-
-
-
-
1LossND
AC104304.4p.R76L
Missense
SNP
0.541
NDNDND
AC104452.1-
-
-
-
1LossND
AC104472.3-
-
-
-
3GainND
AC104532.1-
-
-
-
1LossND
AC105052.1-
-
-
-
3GainND
AC105052.3-
-
-
-
3GainND
AC109583.3-
-
-
-
1LossND
AC112128.1-
-
-
-
3GainND
AC112504.2-
-
-
-
3GainND
AC113348.2-
-
-
-
1LossND
AC116366.3-
-
-
-
1LossND
AC117457.1-
-
-
-
3GainND
AC118470.1-
-
-
-
3GainND
AC119396.1-
-
-
-
1LossND
AC131160.1-
-
-
-
3GainND
AC138647.1p.W43*;p.E44K
Nonsense
MNP
0.231
5AmpND
AC138696.1-
-
-
-
5AmpND
AC139491.7-
-
-
-
1LossND
AC142391.1-
-
-
-
1LossND
AC187653.1-
-
-
-
3GainND
AC239799.1-
-
-
-
1LossND
AC243756.1-
-
-
-
1LossND
ACAA1-
-
-
-
1LossND
ACACBp.E1058K
Missense
SNP
0.470
2-ND
ACAD11-
-
-
-
3GainND
ACAD9-
-
-
-
3GainND
ACANp.P1859S
p.A2191V
Missense
Missense
SNP
SNP
0.517
0.387
2-ND
ACAP2-
-
-
-
3GainND
ACBD3-
-
-
-
3GainND
ACBD6-
-
-
-
3GainND
ACDp.L511F
Missense
SNP
0.335
2-ND
ACER1-
-
-
-
1LossND
ACER2-
-
-
-
1LossND
ACHE-
-
-
-
3GainND
ACIN1-
-
-
-
1LossND
ACKR1-
-
-
-
3GainND
ACKR2-
-
-
-
1LossND
ACKR4-
-
-
-
3GainND
ACMSDp.X34_splice
Splice_Site
SNP
0.550
2-ND
ACO1-
-
-
-
1LossND
ACOT12-
-
-
-
1LossND
ACOT7p.G97E
Missense
SNP
0.542
2-ND
ACOX2p.V53A
Missense
SNP
0.443
1LossND
ACP4-
-
-
-
1LossND
ACP6-
-
-
-
3GainND
ACPP-
-
-
-
3GainND
ACSBG2-
-
-
-
1LossND
ACSL6-
-
-
-
1LossND
ACSM2Ap.R5L
Missense
SNP
0.526
2-ND
ACSM2Bp.R108C
Missense
SNP
0.393
2-ND
ACTA1-
-
-
-
3GainND
ACTB-
-
-
-
3GainND
ACTBL2-
-
-
-
1LossND
ACTG2-
-
-
-
1LossND
ACTL6A-
-
-
-
3GainND
ACTL6B-
-
-
-
3GainND
ACTL7A-
-
-
-
3GainND
ACTL7B-
-
-
-
3GainND
ACTL9-
-
-
-
1LossND
ACTN2-
-
-
-
3GainND
ACTN4p.G377S
Missense
SNP
0.398
2-ND
ACTR3B-
-
-
-
3GainND
ACTR3C-
-
-
-
3GainND
ACTR8-
-
-
-
1LossND
ACTRT2p.P274L
Missense
SNP
0.534
2-ND
ACTRT3-
-
-
-
3GainND
ACVR2Bp.G271D
Missense
SNP
0.493
1LossND
ACVRL1p.G158R
Missense
SNP
0.454
2-ND
ACY1-
-
-
-
1LossND
ADAM15-
-
-
-
3GainND
ADAM19-
-
-
-
1LossND
ADAM22-
-
-
-
3GainND
ADAM28p.E162K
Missense
SNP
0.338
2-ND
ADAM30p.E721K
Missense
SNP
0.426
2-ND
ADAM32p.Q18K
p.S330L
Missense
Missense
SNP
SNP
0.439
0.503
2-ND
ADAMTS10-
-
-
-
1LossND
ADAMTS13p.F751L
Missense
SNP
0.909
3GainND
ADAMTS15p.P884L
Missense
SNP
0.369
2-ND
ADAMTS18p.G353E
Missense
SNP
0.289
2-ND
ADAMTS19p.K512R
Missense
SNP
0.379
1LossND
ADAMTS2-
-
-
-
1LossND
ADAMTS4-
-
-
-
3GainND
ADAMTS6p.G481S
Missense
SNP
0.396
1LossND
ADAMTS7p.G328R
Missense
SNP
0.413
2-ND
ADAMTS9-
-
-
-
1LossND
ADAMTSL1-
-
-
-
1LossND
ADAMTSL2-
-
-
-
3GainND
ADAMTSL4-
-
-
-
3GainND
ADAMTSL5-
-
-
-
1LossND
ADAP1-
-
-
-
3GainND
ADAR-
-
-
-
3GainND
ADARB1p.T732I
Missense
SNP
0.404
2-ND
ADAT3-
-
-
-
1LossND
ADCK1p.X194_splice
Splice_Site
SNP
0.400
2-ND
ADCK2-
-
-
-
3GainND
ADCK5-
-
-
-
4GainND
ADCY1-
-
-
-
3GainND
ADCY10-
-
-
-
3GainND
ADCY4-
-
-
-
1LossND
ADCY5-
-
-
-
3GainND
ADCY8p.G1219E
Missense
SNP
0.131
5AmpND
ADCYAP1R1-
-
-
-
3GainND
ADGBp.Y902S
Missense
SNP
0.559
2-ND
ADGRA2p.A228V
p.E863K
Missense
Missense
SNP
SNP
0.378
0.575
2-ND
ADGRB1-
-
-
-
5AmpND
ADGRD2-
-
-
-
3GainND
ADGRE1-
-
-
-
1LossND
ADGRE2p.A330V
Missense
SNP
0.490
2-ND
ADGRE3p.L498H
Missense
SNP
0.500
2-ND
ADGRE5p.S578W
Missense
SNP
0.418
2-ND
ADGRG7-
-
-
-
3GainND
ADGRL4p.A287T
Missense
SNP
0.314
2-ND
ADGRV1p.P1346S
Missense
SNP
0.324
1LossND
ADHFE1-
-
-
-
5AmpND
ADIPOQ-
-
-
-
3GainND
ADIPOR1-
-
-
-
3GainND
ADM5-
-
-
-
1LossND
ADORA1-
-
-
-
3GainND
ADPRH-
-
-
-
3GainND
ADRA1B-
-
-
-
1LossND
ADRB2-
-
-
-
1LossND
ADSS-
-
-
-
3GainND
AEBP1p.T178I
Missense
SNP
0.358
3GainND
AES-
-
-
-
1LossND
AFAP1p.Y184N
Missense
SNP
0.535
2-ND
AFAP1L1-
-
-
-
1LossND
AFF1p.S691L
Missense
SNP
0.429
2-ND
AFF3p.S704F
Missense
SNP
0.494
2-ND
AFF4-
-
-
-
1LossND
AGAP14Pp.Y314*
Nonsense
SNP
0.209
NDNDND
AGAP3-
-
-
-
3GainND
AGBL3-
-
-
-
3GainND
AGFG2-
-
-
-
3GainND
AGGF1-
-
-
-
1LossND
AGK-
-
-
-
3GainND
AGMO-
-
-
-
3GainND
AGO2-
-
-
-
5AmpND
AGPAT2-
-
-
-
3GainND
AGPSp.X452_splice
Splice_Site
DEL
0.226
2-ND
AGR2-
-
-
-
3GainND
AGR3-
-
-
-
3GainND
AGRNp.Q431*
Nonsense
SNP
0.472
2-ND
AGT-
-
-
-
3GainND
AGTPBP1-
-
-
-
3GainND
AGTR1-
-
-
-
3GainND
AHCTF1-
-
-
-
3GainND
AHCYL2-
-
-
-
3GainND
AHNAK2p.P4021Wfs*10
p.S4517F
p.S338L
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.319
0.333
0.387
2-ND
AHR-
-
-
-
3GainND
AHRRp.G103E
Missense
SNP
0.431
2-ND
AHSG-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIF1L-
-
-
-
3GainND
AIG1p.F187L
Missense
SNP
0.160
2-ND
AIM1Lp.M1046I
Missense
SNP
0.497
NDNDND
AIM2-
-
-
-
3GainND
AIMP2-
-
-
-
3GainND
AJM1-
-
-
-
3GainND
AJUBAp.G198E
Missense
SNP
0.507
1LossND
AK1-
-
-
-
3GainND
AK3-
-
-
-
1LossND
AK6-
-
-
-
1LossND
AK8-
-
-
-
3GainND
AKAP2-
-
-
-
3GainND
AKAP8p.G302S
Missense
SNP
0.434
2-ND
AKAP9-
-
-
-
3GainND
AKNA-
-
-
-
3GainND
AKR1B1-
-
-
-
3GainND
AKR1B10-
-
-
-
3GainND
AKR1B15p.P109S
Missense
SNP
0.512
3GainND
AKR1D1p.E152K
Missense
SNP
0.887
3GainND
AKT1S1-
-
-
-
1LossND
AKT3-
-
-
-
3GainND
AL096870.1-
-
-
-
1LossND
AL117348.2-
-
-
-
3GainND
AL132780.3-
-
-
-
1LossND
AL133410.3-
-
-
-
1LossND
AL136295.1-
-
-
-
1LossND
AL136295.3-
-
-
-
1LossND
AL136295.4-
-
-
-
1LossND
AL136295.5-
-
-
-
1LossND
AL138752.2-
-
-
-
1LossND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL157935.2-
-
-
-
3GainND
AL160269.1-
-
-
-
3GainND
AL160272.2-
-
-
-
3GainND
AL162231.1-
-
-
-
1LossND
AL162231.3-
-
-
-
1LossND
AL162417.1-
-
-
-
3GainND
AL163195.3-
-
-
-
1LossND
AL163636.2-
-
-
-
1LossND
AL355987.1-
-
-
-
3GainND
AL355987.3-
-
-
-
3GainND
AL358113.1-
-
-
-
3GainND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL359922.1-
-
-
-
1LossND
AL512785.2-
-
-
-
3GainND
AL513165.2-
-
-
-
1LossND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL672142.1-
-
-
-
3GainND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
AL807752.6-
-
-
-
3GainND
AL807752.7-
-
-
-
3GainND
AL929554.1-
-
-
-
3GainND
ALAD-
-
-
-
3GainND
ALAS1-
-
-
-
1LossND
ALCAM-
-
-
-
3GainND
ALDH16A1-
-
-
-
1LossND
ALDH1A1-
-
-
-
3GainND
ALDH1B1-
-
-
-
1LossND
ALDH1L1-
-
-
-
3GainND
ALDH5A1p.P288S
Missense
SNP
0.811
2-ND
ALDH7A1-
-
-
-
1LossND
ALDH9A1-
-
-
-
3GainND
ALDOB-
-
-
-
3GainND
ALG1L-
-
-
-
3GainND
ALG1L2-
-
-
-
3GainND
ALG2-
-
-
-
3GainND
ALG3-
-
-
-
3GainND
ALKAL1-
-
-
-
5AmpND
ALKBH4-
-
-
-
3GainND
ALKBH7-
-
-
-
1LossND
ALMS1p.E1909K
Missense
SNP
0.336
2-ND
ALOXE3p.D212N
Missense
SNP
0.264
2-ND
ALPK3p.G711E
Missense
SNP
0.177
2-ND
ALS2CL-
-
-
-
1LossND
AMBP-
-
-
-
3GainND
AMBRA1p.P1195S
Missense
SNP
0.514
2-ND
AMER3p.P657F
p.K684T
Missense
Missense
MNP
SNP
0.320
0.531
2-ND
AMH-
-
-
-
1LossND
AMIGO3-
-
-
-
1LossND
AMOTp.S563F
Missense
SNP
0.769
NDNDND
AMOTL1p.Q337*
Nonsense
SNP
0.410
2-ND
AMOTL2-
-
-
-
3GainND
AMPD2p.P148L
Missense
SNP
0.575
2-ND
AMPHp.E558K
p.M267I
p.G239R
Missense
Missense
Missense
SNP
SNP
SNP
0.495
0.351
0.543
3GainND
AMT-
-
-
-
1LossND
AMZ1p.W340*
Nonsense
SNP
0.396
3GainND
ANAPC13-
-
-
-
3GainND
ANAPC2-
-
-
-
3GainND
ANG-
-
-
-
1LossND
ANGEL2-
-
-
-
3GainND
ANGPT1-
-
-
-
5AmpND
ANGPTL1-
-
-
-
3GainND
ANGPTL2-
-
-
-
3GainND
ANGPTL4-
-
-
-
1LossND
ANK1p.D1858N
Missense
SNP
0.260
2-ND
ANK3p.P4196L
p.P2631L
Missense
Missense
SNP
SNP
0.387
0.398
2-ND
ANKDD1B-
-
-
-
1LossND
ANKFN1p.E1053A
Missense
SNP
0.245
2-ND
ANKHD1-
-
-
-
1LossND
ANKHD1-EIF4EBP3-
-
-
-
1LossND
ANKIB1-
-
-
-
3GainND
ANKMY2p.P409F
Missense
MNP
0.350
3GainND
ANKRA2p.G226S
Missense
SNP
0.434
1LossND
ANKRD11p.S1967F
Missense
SNP
0.313
2-ND
ANKRD12p.P349F
Missense
MNP
0.147
2-ND
ANKRD18Ap.G318E
Missense
SNP
0.832
1LossND
ANKRD18B-
-
-
-
1LossND
ANKRD24-
-
-
-
1LossND
ANKRD26p.E1376K
Missense
SNP
0.162
2-ND
ANKRD28-
-
-
-
1LossND
ANKRD30Ap.E1332K
Missense
SNP
0.485
2-ND
ANKRD31-
-
-
-
1LossND
ANKRD34B-
-
-
-
1LossND
ANKRD34Cp.S289F
Missense
SNP
0.588
2-ND
ANKRD35p.V874M
Missense
SNP
0.428
2-ND
ANKRD36C-
-
-
-
1LossND
ANKRD45-
-
-
-
3GainND
ANKRD46-
-
-
-
5AmpND
ANKRD55-
-
-
-
1LossND
ANKRD6-
-
-
-
1LossND
ANKRD61-
-
-
-
3GainND
ANKRD65p.G280R
Missense
SNP
0.289
2-ND
ANKRD7-
-
-
-
3GainND
ANKS1Bp.P1202L
Missense
SNP
0.350
2-ND
ANKS6-
-
-
-
3GainND
ANKUB1-
-
-
-
3GainND
ANLNp.P963L
Missense
SNP
0.471
3GainND
ANO10-
-
-
-
1LossND
ANO2p.S180F
Missense
SNP
0.280
2-ND
ANO3p.G814E
Missense
SNP
0.423
2-ND
ANO7p.D31N
Missense
SNP
0.378
2-ND
ANP32B-
-
-
-
3GainND
ANP32E-
-
-
-
3GainND
ANXA1-
-
-
-
3GainND
ANXA13p.G102D
Missense
SNP
0.232
5AmpND
ANXA6-
-
-
-
1LossND
ANXA7p.P121S
Missense
SNP
0.452
2-ND
ANXA9-
-
-
-
3GainND
AOAH-
-
-
-
3GainND
AOC1-
-
-
-
3GainND
AP000349.2p.W115*
Nonsense
SNP
0.480
NDNDND
AP1G2-
-
-
-
1LossND
AP1S1-
-
-
-
3GainND
AP1S2p.T79I
Missense
SNP
0.833
NDNDND
AP2A1-
-
-
-
1LossND
AP2M1-
-
-
-
3GainND
AP2S1-
-
-
-
1LossND
AP3B1-
-
-
-
1LossND
AP3B2p.P905L
p.S662F
Missense
Missense
SNP
SNP
0.387
0.520
2-ND
AP3D1-
-
-
-
1LossND
AP3S1-
-
-
-
1LossND
AP4M1-
-
-
-
3GainND
AP5Z1-
-
-
-
3GainND
APBA1-
-
-
-
3GainND
APBA3-
-
-
-
1LossND
APBB1p.S631F
Missense
SNP
0.385
2-ND
APBB3-
-
-
-
1LossND
APC-
-
-
-
1LossND
APC2p.G1807E
Missense
SNP
0.225
1LossND
APCS-
-
-
-
3GainND
APEH-
-
-
-
1LossND
APEX1-
-
-
-
1LossND
APH1A-
-
-
-
3GainND
APOA1p.G15R
Missense
SNP
0.437
2-ND
APOA2-
-
-
-
3GainND
APOBp.S4244F
Missense
SNP
0.353
2-ND
APOBEC4-
-
-
-
3GainND
APOC1-
-
-
-
1LossND
APOC2-
-
-
-
1LossND
APOC4-APOC2-
-
-
-
1LossND
APOD-
-
-
-
3GainND
APOE-
-
-
-
1LossND
APOL2p.P86L
Missense
SNP
0.387
2-ND
APPL1-
-
-
-
1LossND
APTX-
-
-
-
1LossND
AQP1-
-
-
-
3GainND
AQP10-
-
-
-
3GainND
AQP3-
-
-
-
1LossND
AQP4p.L160F
Missense
SNP
0.405
2-ND
AQP7-
-
-
-
1LossND
ARAP3p.A777T
Missense
SNP
0.500
1LossND
ARC-
-
-
-
5AmpND
ARF1-
-
-
-
3GainND
ARF4-
-
-
-
1LossND
ARF5-
-
-
-
3GainND
ARFGAP1p.F111S
Missense
SNP
0.405
2-ND
ARFGEF1p.G1078R
p.E145K
Missense
Missense
SNP
SNP
0.651
0.249
5AmpND
ARGFX-
-
-
-
3GainND
ARHGAP18p.P652L
p.L551S
Missense
Missense
SNP
SNP
0.503
0.500
2-ND
ARHGAP26p.R120Q
Missense
SNP
0.368
1LossND
ARHGAP27p.G379N
Missense
MNP
0.176
2-ND
ARHGAP30-
-
-
-
3GainND
ARHGAP31p.G568E
Missense
SNP
0.647
3GainND
ARHGAP35-
-
-
-
1LossND
ARHGAP39-
-
-
-
4GainND
ARHGAP45-
-
-
-
1LossND
ARHGEF1p.S374F
Missense
SNP
0.625
2-ND
ARHGEF10p.P550L
Missense
SNP
0.321
2-ND
ARHGEF10Lp.P1262S
Missense
SNP
0.282
2-ND
ARHGEF11-
-
-
-
3GainND
ARHGEF16p.A79T
Missense
SNP
0.297
2-ND
ARHGEF18-
-
-
-
1LossND
ARHGEF19p.S340F
Missense
SNP
0.299
2-ND
ARHGEF2-
-
-
-
3GainND
ARHGEF26-
-
-
-
3GainND
ARHGEF28p.S179F
Missense
SNP
0.534
1LossND
ARHGEF3-
-
-
-
1LossND
ARHGEF33p.E711K
Missense
SNP
0.507
2-ND
ARHGEF37-
-
-
-
1LossND
ARHGEF39-
-
-
-
1LossND
ARHGEF40-
-
-
-
1LossND
ARHGEF5-
-
-
-
3GainND
ARID1Ap.G324S
p.P1147S
Missense
Missense
SNP
SNP
0.351
0.457
2-ND
ARID3A-
-
-
-
1LossND
ARID3C-
-
-
-
1LossND
ARID4B-
-
-
-
3GainND
ARID5Bp.P557S
Missense
SNP
0.435
2-ND
ARIH2-
-
-
-
1LossND
ARIH2OS-
-
-
-
1LossND
ARL10-
-
-
-
1LossND
ARL13B-
-
-
-
3GainND
ARL14-
-
-
-
3GainND
ARL14EPL-
-
-
-
1LossND
ARL15-
-
-
-
1LossND
ARL4A-
-
-
-
3GainND
ARL6-
-
-
-
3GainND
ARL6IP5-
-
-
-
1LossND
ARL8A-
-
-
-
3GainND
ARL8B-
-
-
-
1LossND
ARMC1-
-
-
-
5AmpND
ARMC10-
-
-
-
3GainND
ARMC6-
-
-
-
1LossND
ARMC8-
-
-
-
3GainND
ARMC9p.P737L
Missense
SNP
0.452
2-ND
ARNT-
-
-
-
3GainND
ARPC1A-
-
-
-
3GainND
ARPC1B-
-
-
-
3GainND
ARPC4-
-
-
-
1LossND
ARPC4-TTLL3-
-
-
-
1LossND
ARPC5-
-
-
-
3GainND
ARPC5L-
-
-
-
3GainND
ARPP21-
-
-
-
1LossND
ARRB1p.X161_splice
Splice_Site
SNP
0.466
2-ND
ARRDC1-
-
-
-
3GainND
ARRDC3-
-
-
-
1LossND
ARRDC5-
-
-
-
1LossND
ARSB-
-
-
-
1LossND
ARSI-
-
-
-
1LossND
ARSK-
-
-
-
1LossND
ARV1-
-
-
-
3GainND
ARVCFp.R638Q
Missense
SNP
0.361
2-ND
ASAH1p.*412Lext*11
Nonstop
SNP
0.318
2-ND
ASAP1-
-
-
-
5AmpND
ASAP2p.P849L
Missense
SNP
0.494
2-ND
ASB10-
-
-
-
3GainND
ASB14-
-
-
-
1LossND
ASB15-
-
-
-
3GainND
ASB2p.P622S
p.E137K
Missense
Missense
SNP
SNP
0.475
0.532
2-ND
ASB3p.T270I
Missense
SNP
0.396
2-ND
ASB4-
-
-
-
3GainND
ASB6-
-
-
-
3GainND
ASCC2p.S144F
Missense
SNP
0.458
2-ND
ASCC3p.P1656S
Missense
SNP
0.419
2-ND
ASH1L-
-
-
-
3GainND
ASH2Lp.P624L
Missense
SNP
0.596
2-ND
ASIC3-
-
-
-
3GainND
ASL-
-
-
-
3GainND
ASNSp.V360G
Missense
SNP
0.481
3GainND
ASPDH-
-
-
-
1LossND
ASPHp.P756S
p.S626R
Missense
Missense
SNP
SNP
0.604
0.272
5AmpND
ASPMp.R2118K
Missense
SNP
0.372
3GainND
ASPNp.G219R
Missense
SNP
0.499
3GainND
ASS1p.Q125*
Nonsense
SNP
0.940
3GainND
ASTE1-
-
-
-
3GainND
ASTN1-
-
-
-
3GainND
ASTN2p.R602C
Missense
SNP
0.552
3GainND
ASXL2p.P900Lfs*34
p.K124Rfs*43
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.500
0.356
2-ND
ASXL3p.S756F
Missense
SNP
0.481
2-ND
ASZ1-
-
-
-
3GainND
ATAD2p.S969L
p.R847C
Missense
Missense
SNP
SNP
0.220
0.198
5AmpND
ATCAY-
-
-
-
1LossND
ATE1p.R212W
Missense
SNP
0.297
2-ND
ATF3-
-
-
-
3GainND
ATF5-
-
-
-
1LossND
ATF6-
-
-
-
3GainND
ATG10-
-
-
-
1LossND
ATG12-
-
-
-
1LossND
ATG3-
-
-
-
3GainND
ATG7-
-
-
-
1LossND
ATG9B-
-
-
-
3GainND
ATMINp.P128L
Missense
MNP
0.455
2-ND
ATOX1-
-
-
-
1LossND
ATP10B-
-
-
-
1LossND
ATP11B-
-
-
-
3GainND
ATP13A1-
-
-
-
1LossND
ATP13A3p.P298S
Missense
SNP
0.264
3GainND
ATP13A4-
-
-
-
3GainND
ATP13A5-
-
-
-
3GainND
ATP1A2p.E317K
Missense
SNP
0.337
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP1B3-
-
-
-
3GainND
ATP2A1p.S261F
Missense
SNP
0.378
2-ND
ATP2B2-
-
-
-
1LossND
ATP2B4-
-
-
-
3GainND
ATP2C1-
-
-
-
3GainND
ATP5F1D-
-
-
-
1LossND
ATP5MF-
-
-
-
3GainND
ATP5MF-PTCD1-
-
-
-
3GainND
ATP6AP1L-
-
-
-
1LossND
ATP6V0A4-
-
-
-
3GainND
ATP6V0D2-
-
-
-
5AmpND
ATP6V0E1-
-
-
-
1LossND
ATP6V0E2-
-
-
-
3GainND
ATP6V1A-
-
-
-
3GainND
ATP6V1C1-
-
-
-
5AmpND
ATP6V1F-
-
-
-
3GainND
ATP6V1FNB-
-
-
-
3GainND
ATP6V1G1-
-
-
-
3GainND
ATP6V1G3-
-
-
-
3GainND
ATP6V1H-
-
-
-
5AmpND
ATP8B2-
-
-
-
3GainND
ATP8B3-
-
-
-
1LossND
ATP8B4p.R444K
Missense
SNP
0.327
2-ND
ATR-
-
-
-
3GainND
ATRIP-
-
-
-
1LossND
ATRNL1p.R978L
Missense
SNP
0.377
2-ND
ATXN3Lp.G103D
Missense
SNP
0.828
NDNDND
ATXN7-
-
-
-
1LossND
ATXN7L1-
-
-
-
3GainND
AUH-
-
-
-
3GainND
AUP1-
-
-
-
1LossND
AURKC-
-
-
-
1LossND
AUTS2p.P890F
Missense
MNP
0.343
3GainND
AVL9-
-
-
-
3GainND
AVPR1Ap.R288H
Missense
SNP
0.377
2-ND
AVPR1Bp.R265W
Missense
SNP
0.424
3GainND
AXDND1p.E634K
Missense
SNP
0.464
3GainND
AZGP1-
-
-
-
3GainND
AZI2-
-
-
-
1LossND
AZIN1-
-
-
-
5AmpND
AZU1-
-
-
-
1LossND
B3GALNT1-
-
-
-
3GainND
B3GALNT2-
-
-
-
3GainND
B3GALT2-
-
-
-
3GainND
B3GAT3p.P119S
Missense
SNP
0.380
2-ND
B3GNT5-
-
-
-
3GainND
B4GALT1-
-
-
-
1LossND
B4GALT3-
-
-
-
3GainND
B4GALT4-
-
-
-
3GainND
B4GALT6p.E343K
Missense
SNP
0.462
2-ND
B4GALT7-
-
-
-
1LossND
B9D1p.E154K
Missense
SNP
0.218
2-ND
BAALCp.G59R
Missense
SNP
0.257
5AmpND
BAAT-
-
-
-
3GainND
BACH2-
-
-
-
1LossND
BAG1-
-
-
-
1LossND
BAHCC1p.P484S
p.P820S
Missense
Missense
SNP
SNP
0.207
0.727
2-ND
BAHD1p.P397L
Missense
SNP
0.545
2-ND
BAIAP2L1-
-
-
-
3GainND
BAP1-
-
-
-
1LossND
BARHL1-
-
-
-
3GainND
BARHL2p.G214E
Missense
SNP
0.312
2-ND
BARX1-
-
-
-
3GainND
BATF3-
-
-
-
3GainND
BAX-
-
-
-
1LossND
BAZ1Ap.G277R
Missense
SNP
0.516
2-ND
BAZ1B-
-
-
-
3GainND
BBC3-
-
-
-
1LossND
BBS4p.P30S
Missense
SNP
0.444
2-ND
BBS9-
-
-
-
3GainND
BBX-
-
-
-
3GainND
BCAM-
-
-
-
1LossND
BCANp.S302I
Missense
SNP
0.519
3GainND
BCAP29-
-
-
-
3GainND
BCAT2p.S205F
Missense
SNP
0.427
1LossND
BCHE-
-
-
-
3GainND
BCL2L12-
-
-
-
1LossND
BCL2L2-
-
-
-
1LossND
BCL2L2-PABPN1-
-
-
-
1LossND
BCL3-
-
-
-
1LossND
BCL6-
-
-
-
3GainND
BCL7B-
-
-
-
3GainND
BCL9-
-
-
-
3GainND
BCO2p.D188E
Missense
SNP
0.461
2-ND
BDH1-
-
-
-
3GainND
BDP1-
-
-
-
1LossND
BET1-
-
-
-
3GainND
BFSP2-
-
-
-
3GainND
BGLAP-
-
-
-
3GainND
BHLHA15-
-
-
-
3GainND
BHLHE22-
-
-
-
5AmpND
BHLHE40-
-
-
-
1LossND
BHMG1-
-
-
-
1LossND
BHMT-
-
-
-
1LossND
BHMT2-
-
-
-
1LossND
BICD2-
-
-
-
3GainND
BICRA-
-
-
-
1LossND
BIRC6p.G3167S;p.X3167_splice
Splice_Site
MNP
0.468
2-ND
BIRC8-
-
-
-
1LossND
BLMp.G950V
Missense
SNP
0.550
2-ND
BLMHp.E214*
Nonsense
SNP
0.315
2-ND
BLOC1S3-
-
-
-
1LossND
BLVRA-
-
-
-
3GainND
BLZF1-
-
-
-
3GainND
BMP3p.G261E
Missense
SNP
0.350
2-ND
BMPER-
-
-
-
3GainND
BMT2-
-
-
-
3GainND
BNC2-
-
-
-
1LossND
BNIP1p.S199R
Missense
SNP
0.381
1LossND
BNIPL-
-
-
-
3GainND
BOC-
-
-
-
3GainND
BOD1-
-
-
-
1LossND
BOLA1-
-
-
-
3GainND
BOLA3-
-
-
-
1LossND
BOP1-
-
-
-
3GainND
BORCS8-
-
-
-
1LossND
BORCS8-MEF2B-
-
-
-
1LossND
BPGM-
-
-
-
3GainND
BPIFCp.S276F
Missense
SNP
0.361
2-ND
BPNT1-
-
-
-
3GainND
BRAF-
-
-
-
3GainND
BRAT1-
-
-
-
3GainND
BRD3-
-
-
-
3GainND
BRD8-
-
-
-
1LossND
BRI3-
-
-
-
3GainND
BRINP1p.R705C
Missense
SNP
0.256
3GainND
BRINP2-
-
-
-
3GainND
BRINP3p.S320*
Nonsense
SNP
0.417
3GainND
BRK1-
-
-
-
1LossND
BROX-
-
-
-
3GainND
BRPF1-
-
-
-
1LossND
BSG-
-
-
-
1LossND
BSN-
-
-
-
1LossND
BSPH1p.W128*
Nonsense
SNP
0.440
1LossND
BSPRY-
-
-
-
3GainND
BTBD2-
-
-
-
1LossND
BTD-
-
-
-
1LossND
BTF3-
-
-
-
1LossND
BTG2-
-
-
-
3GainND
BTLA-
-
-
-
3GainND
BTN3A2p.Q318*
Nonsense
SNP
0.837
2-ND
BTNL3-
-
-
-
1LossND
BTNL8-
-
-
-
1LossND
BTNL9-
-
-
-
1LossND
BUD13p.A611V
Missense
SNP
0.352
2-ND
BUD23-
-
-
-
3GainND
BUD31-
-
-
-
3GainND
BZW2-
-
-
-
3GainND
C10orf11p.K124R
Missense
SNP
0.450
NDNDND
C10orf2p.T58I
Missense
SNP
0.397
NDNDND
C10orf54p.P255L
Missense
SNP
0.459
NDNDND
C10orf67p.H452Y
Missense
SNP
0.423
2-ND
C11orf40p.E37D
Missense
SNP
0.338
2-ND
C12orf42p.P206S
Missense
SNP
0.181
2-ND
C12orf74p.D94N
Missense
SNP
0.153
NDNDND
C14orf119-
-
-
-
1LossND
C14orf177p.R110*
Nonsense
SNP
0.441
2-ND
C14orf93p.N318K
Missense
SNP
0.475
1LossND
C16orf46p.G201C
Missense
SNP
0.391
2-ND
C17orf105p.W98*
Nonsense
SNP
0.170
NDNDND
C19orf18p.E172K
Missense
SNP
0.505
1LossND
C19orf24-
-
-
-
1LossND
C19orf25-
-
-
-
1LossND
C19orf44p.L40F
Missense
SNP
0.487
2-ND
C19orf48-
-
-
-
1LossND
C19orf54p.T269M
Missense
SNP
0.457
2-ND
C19orf66p.P104S
Missense
SNP
0.430
2-ND
C19orf70-
-
-
-
1LossND
C19orf71-
-
-
-
1LossND
C19orf73-
-
-
-
1LossND
C19orf81-
-
-
-
1LossND
C19orf84-
-
-
-
1LossND
C1GALT1-
-
-
-
3GainND
C1GALT1C1p.G211E
Missense
SNP
0.832
NDNDND
C1orf100-
-
-
-
3GainND
C1orf105-
-
-
-
3GainND
C1orf112-
-
-
-
3GainND
C1orf115-
-
-
-
3GainND
C1orf116-
-
-
-
3GainND
C1orf127p.P463F
Missense
MNP
0.542
2-ND
C1orf131-
-
-
-
3GainND
C1orf189-
-
-
-
3GainND
C1orf198-
-
-
-
3GainND
C1orf21-
-
-
-
3GainND
C1orf216p.P139H
Missense
SNP
0.486
2-ND
C1orf226-
-
-
-
3GainND
C1orf35-
-
-
-
3GainND
C1orf43-
-
-
-
3GainND
C1orf53-
-
-
-
3GainND
C1orf54-
-
-
-
3GainND
C1orf56-
-
-
-
3GainND
C1orf61-
-
-
-
3GainND
C1orf68-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C1QTNF1p.Q31*
Nonsense
SNP
0.200
2-ND
C1QTNF2-
-
-
-
1LossND
C1QTNF9Bp.G80E
Missense
SNP
0.308
2-ND
C20orf194p.E984Q
Missense
SNP
0.178
2-ND
C21orf2p.H250R
Missense
SNP
0.411
NDNDND
C2CD4C-
-
-
-
1LossND
C2CD4D-
-
-
-
3GainND
C2orf16p.E1157K
Missense
SNP
0.480
2-ND
C2orf50p.E74K
Missense
SNP
0.433
2-ND
C2orf71p.P1206L
p.W1001*
p.V581I
Missense
Nonsense
Missense
SNP
SNP
SNP
0.407
0.349
0.477
NDNDND
C2orf78-
-
-
-
1LossND
C2orf81-
-
-
-
1LossND
C3-
-
-
-
1LossND
C3orf14-
-
-
-
1LossND
C3orf18-
-
-
-
1LossND
C3orf20-
-
-
-
1LossND
C3orf22-
-
-
-
3GainND
C3orf30-
-
-
-
3GainND
C3orf33-
-
-
-
3GainND
C3orf36p.A45P
Missense
SNP
0.198
NDNDND
C3orf38-
-
-
-
1LossND
C3orf49-
-
-
-
1LossND
C3orf52-
-
-
-
3GainND
C3orf56-
-
-
-
3GainND
C3orf58-
-
-
-
3GainND
C3orf62-
-
-
-
1LossND
C3orf67-
-
-
-
1LossND
C3orf70-
-
-
-
3GainND
C3orf80-
-
-
-
3GainND
C3orf84-
-
-
-
1LossND
C3orf85-
-
-
-
3GainND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
C4orf17p.P258Y
Missense
MNP
0.405
2-ND
C5-
-
-
-
3GainND
C5AR1p.I111L
Missense
SNP
0.474
1LossND
C5AR2-
-
-
-
1LossND
C5orf15-
-
-
-
1LossND
C5orf24-
-
-
-
1LossND
C5orf30-
-
-
-
1LossND
C5orf42p.P2571L
Missense
SNP
0.433
NDNDND
C5orf46-
-
-
-
1LossND
C5orf47-
-
-
-
1LossND
C5orf51p.L37I
Missense
SNP
0.263
2-ND
C5orf52-
-
-
-
1LossND
C5orf58-
-
-
-
1LossND
C5orf60-
-
-
-
1LossND
C5orf63-
-
-
-
1LossND
C5orf67-
-
-
-
1LossND
C6orf118p.G88K
Missense
MNP
0.553
2-ND
C7orf25-
-
-
-
3GainND
C7orf26-
-
-
-
3GainND
C7orf31-
-
-
-
3GainND
C7orf33-
-
-
-
3GainND
C7orf43-
-
-
-
3GainND
C7orf50-
-
-
-
3GainND
C7orf55-LUC7L2-
-
-
-
3GainND
C7orf57-
-
-
-
3GainND
C7orf61-
-
-
-
3GainND
C7orf77-
-
-
-
3GainND
C8G-
-
-
-
3GainND
C8orf33-
-
-
-
4GainND
C8orf34p.E256K
Missense
SNP
0.234
5AmpND
C8orf37-
-
-
-
5AmpND
C8orf44-
-
-
-
5AmpND
C8orf59-
-
-
-
5AmpND
C8orf76-
-
-
-
5AmpND
C8orf82-
-
-
-
4GainND
C8orf88-
-
-
-
5AmpND
C8orf89-
-
-
-
5AmpND
C9orf116-
-
-
-
3GainND
C9orf129-
-
-
-
3GainND
C9orf131-
-
-
-
1LossND
C9orf135-
-
-
-
3GainND
C9orf152-
-
-
-
3GainND
C9orf153-
-
-
-
3GainND
C9orf16-
-
-
-
3GainND
C9orf24-
-
-
-
1LossND
C9orf3-
-
-
-
3GainND
C9orf40-
-
-
-
3GainND
C9orf43-
-
-
-
3GainND
C9orf50-
-
-
-
3GainND
C9orf57-
-
-
-
3GainND
C9orf64-
-
-
-
3GainND
C9orf66-
-
-
-
1LossND
C9orf72-
-
-
-
1LossND
C9orf78-
-
-
-
3GainND
C9orf84-
-
-
-
3GainND
C9orf85-
-
-
-
3GainND
C9orf92-
-
-
-
1LossND
CA1-
-
-
-
5AmpND
CA11-
-
-
-
1LossND
CA13-
-
-
-
5AmpND
CA14-
-
-
-
3GainND
CA2-
-
-
-
5AmpND
CA3-
-
-
-
5AmpND
CA5Ap.P214S
Missense
SNP
0.415
2-ND
CA8-
-
-
-
5AmpND
CA9-
-
-
-
1LossND
CAAP1-
-
-
-
1LossND
CABP5-
-
-
-
1LossND
CACFD1-
-
-
-
3GainND
CACHD1p.D412N
Missense
SNP
0.697
2-ND
CACNA1Ap.W1757*
p.M1251I
Nonsense
Missense
SNP
SNP
0.470
0.497
2-ND
CACNA1B-
-
-
-
3GainND
CACNA1D-
-
-
-
1LossND
CACNA1E-
-
-
-
3GainND
CACNA1Gp.P668L
Missense
SNP
0.239
2-ND
CACNA1Hp.G1173S
Missense
SNP
0.467
2-ND
CACNA1Sp.S891F
Missense
SNP
0.381
3GainND
CACNA2D1-
-
-
-
3GainND
CACNA2D2-
-
-
-
1LossND
CACNA2D3p.E325K
Missense
SNP
0.250
1LossND
CACNG6-
-
-
-
1LossND
CACNG7-
-
-
-
1LossND
CACNG8-
-
-
-
1LossND
CACTIN-
-
-
-
1LossND
CACYBP-
-
-
-
3GainND
CADp.R191*
Nonsense
SNP
0.517
2-ND
CADM2-
-
-
-
1LossND
CADM3-
-
-
-
3GainND
CADPS-
-
-
-
1LossND
CADPS2-
-
-
-
3GainND
CALB1-
-
-
-
5AmpND
CALCR-
-
-
-
3GainND
CALD1-
-
-
-
3GainND
CALHM1p.A51T
Missense
SNP
0.431
2-ND
CALM3-
-
-
-
1LossND
CALN1-
-
-
-
3GainND
CALU-
-
-
-
3GainND
CAMK1-
-
-
-
1LossND
CAMK1Gp.N394I
Missense
SNP
0.408
3GainND
CAMK2A-
-
-
-
1LossND
CAMK2Bp.L478P
p.G23R
Missense
Missense
SNP
SNP
0.458
0.398
3GainND
CAMK2N2-
-
-
-
3GainND
CAMK4-
-
-
-
1LossND
CAMKK1p.S74F
Missense
SNP
0.632
2-ND
CAMKV-
-
-
-
1LossND
CAMLG-
-
-
-
1LossND
CAMP-
-
-
-
1LossND
CAMSAP1-
-
-
-
3GainND
CAMSAP2p.L799F
Missense
SNP
0.407
3GainND
CAMSAP3-
-
-
-
1LossND
CAND2p.H201_S207delinsR
p.P554S
In_Frame_Del
Missense
DEL
SNP
0.327
0.589
1LossND
CANX-
-
-
-
1LossND
CAPN2-
-
-
-
3GainND
CAPN3p.T417M
Missense
SNP
0.175
2-ND
CAPN7-
-
-
-
1LossND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CAPS-
-
-
-
1LossND
CAPZA2-
-
-
-
3GainND
CARD11-
-
-
-
3GainND
CARD19-
-
-
-
3GainND
CARD8-
-
-
-
1LossND
CARD9-
-
-
-
3GainND
CARM1p.H274Y
Missense
SNP
0.387
2-ND
CARMIL3p.R337*
Nonsense
SNP
0.401
1LossND
CARNMT1-
-
-
-
3GainND
CARTPT-
-
-
-
1LossND
CASD1-
-
-
-
3GainND
CASKp.L328*
Nonsense
SNP
0.874
NDNDND
CASP2-
-
-
-
3GainND
CASP8p.F124C
Missense
SNP
0.474
2-ND
CASP8AP2-
-
-
-
1LossND
CASQ1-
-
-
-
3GainND
CASR-
-
-
-
3GainND
CAST-
-
-
-
1LossND
CASTOR2-
-
-
-
3GainND
CASTOR3-
-
-
-
3GainND
CATSPER3-
-
-
-
1LossND
CATSPERD-
-
-
-
1LossND
CATSPERE-
-
-
-
3GainND
CATSPERGp.P477L
Missense
SNP
0.411
2-ND
CAV1-
-
-
-
3GainND
CAV2-
-
-
-
3GainND
CAV3p.D40N
Missense
SNP
0.224
1LossND
CAVIN4-
-
-
-
3GainND
CBARP-
-
-
-
1LossND
CBLB-
-
-
-
3GainND
CBLC-
-
-
-
1LossND
CBLL1-
-
-
-
3GainND
CBLN3-
-
-
-
1LossND
CBWD1-
-
-
-
1LossND
CBWD3-
-
-
-
3GainND
CBWD5-
-
-
-
3GainND
CBX3-
-
-
-
3GainND
CBY3-
-
-
-
1LossND
CC2D2Ap.E1075K
Missense
SNP
0.620
2-ND
CCDC102Bp.K202E
Missense
SNP
0.423
2-ND
CCDC107-
-
-
-
1LossND
CCDC112-
-
-
-
1LossND
CCDC114-
-
-
-
1LossND
CCDC12-
-
-
-
1LossND
CCDC125-
-
-
-
1LossND
CCDC126-
-
-
-
3GainND
CCDC13-
-
-
-
1LossND
CCDC136-
-
-
-
3GainND
CCDC14-
-
-
-
3GainND
CCDC141p.X694_splice
Splice_Site
SNP
0.581
2-ND
CCDC142-
-
-
-
1LossND
CCDC146-
-
-
-
3GainND
CCDC155-
-
-
-
1LossND
CCDC166p.D186N
Missense
SNP
0.132
5AmpND
CCDC168p.P2781L
Missense
SNP
0.480
2-ND
CCDC171-
-
-
-
1LossND
CCDC173p.P51S
Missense
SNP
0.418
2-ND
CCDC174-
-
-
-
1LossND
CCDC180p.R1186K
Missense
SNP
0.382
3GainND
CCDC181-
-
-
-
3GainND
CCDC183-
-
-
-
3GainND
CCDC185-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC191p.R203C
Missense
SNP
0.635
3GainND
CCDC27p.D238N
Missense
SNP
0.419
2-ND
CCDC28Ap.X143_splice
Splice_Site
SNP
0.574
2-ND
CCDC36-
-
-
-
1LossND
CCDC39p.E791K
Missense
SNP
0.532
3GainND
CCDC50-
-
-
-
3GainND
CCDC51-
-
-
-
1LossND
CCDC54-
-
-
-
3GainND
CCDC57p.E248K
Missense
SNP
0.572
2-ND
CCDC58-
-
-
-
3GainND
CCDC61-
-
-
-
1LossND
CCDC63p.K329R
p.P479L
p.P501L
Missense
Missense
Missense
SNP
SNP
SNP
0.474
0.434
0.404
2-ND
CCDC66-
-
-
-
1LossND
CCDC69-
-
-
-
1LossND
CCDC71p.A283V
Missense
SNP
0.239
1LossND
CCDC71L-
-
-
-
3GainND
CCDC8-
-
-
-
1LossND
CCDC80-
-
-
-
3GainND
CCDC88Ap.E846K
Missense
SNP
0.442
2-ND
CCDC88Bp.E275K
p.P1306F
Missense
Missense
SNP
MNP
0.486
0.430
2-ND
CCDC9-
-
-
-
1LossND
CCIN-
-
-
-
1LossND
CCK-
-
-
-
1LossND
CCL19-
-
-
-
1LossND
CCL21-
-
-
-
1LossND
CCL24-
-
-
-
3GainND
CCL25-
-
-
-
1LossND
CCL26-
-
-
-
3GainND
CCL27-
-
-
-
1LossND
CCM2-
-
-
-
3GainND
CCNB1-
-
-
-
1LossND
CCNB1IP1-
-
-
-
1LossND
CCNB3p.S502F
Missense
SNP
0.785
NDNDND
CCND2p.I287N
Missense
SNP
0.421
2-ND
CCNE2-
-
-
-
5AmpND
CCNG1-
-
-
-
1LossND
CCNH-
-
-
-
1LossND
CCNI2-
-
-
-
1LossND
CCNJL-
-
-
-
1LossND
CCNL1-
-
-
-
3GainND
CCNO-
-
-
-
1LossND
CCPG1p.V417A
Missense
SNP
0.342
2-ND
CCR1-
-
-
-
1LossND
CCR2-
-
-
-
1LossND
CCR3-
-
-
-
1LossND
CCR4-
-
-
-
1LossND
CCR5-
-
-
-
1LossND
CCR8-
-
-
-
1LossND
CCR9-
-
-
-
1LossND
CCRL2-
-
-
-
1LossND
CCSAP-
-
-
-
3GainND
CCT3-
-
-
-
3GainND
CCT5p.E10*
p.R27C
Nonsense
Missense
SNP
SNP
0.363
0.424
2-ND
CCT6A-
-
-
-
3GainND
CCT8L2p.G427E
Missense
SNP
0.477
2-ND
CCZ1-
-
-
-
3GainND
CCZ1B-
-
-
-
3GainND
CD14p.H340Y
Missense
SNP
0.442
1LossND
CD163p.S366Lfs*8
Frame_Shift_Del
DEL
0.425
2-ND
CD163L1p.W249*
Nonsense
SNP
0.392
2-ND
CD180-
-
-
-
1LossND
CD1A-
-
-
-
3GainND
CD1B-
-
-
-
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD200-
-
-
-
3GainND
CD200R1-
-
-
-
3GainND
CD200R1L-
-
-
-
3GainND
CD209-
-
-
-
1LossND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD274-
-
-
-
1LossND
CD28p.G70E
Missense
SNP
0.381
2-ND
CD2APp.E140K
Missense
SNP
0.298
2-ND
CD300LGp.W274*
Nonsense
SNP
0.641
2-ND
CD320-
-
-
-
1LossND
CD33-
-
-
-
1LossND
CD34-
-
-
-
3GainND
CD36-
-
-
-
3GainND
CD37-
-
-
-
1LossND
CD3EAP-
-
-
-
1LossND
CD46-
-
-
-
3GainND
CD47-
-
-
-
3GainND
CD48p.W121*
Nonsense
SNP
0.408
3GainND
CD53.
Splice_Site
SNP
0.370
2-ND
CD55-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD70-
-
-
-
1LossND
CD72-
-
-
-
1LossND
CD74-
-
-
-
1LossND
CD80-
-
-
-
3GainND
CD84-
-
-
-
3GainND
CD86-
-
-
-
3GainND
CD96-
-
-
-
3GainND
CDC14B-
-
-
-
3GainND
CDC14C-
-
-
-
3GainND
CDC20B-
-
-
-
1LossND
CDC23-
-
-
-
1LossND
CDC25A-
-
-
-
1LossND
CDC25Cp.S198F
Missense
SNP
0.444
1LossND
CDC26-
-
-
-
3GainND
CDC27p.P360S
Missense
SNP
0.250
2-ND
CDC34-
-
-
-
1LossND
CDC37L1-
-
-
-
1LossND
CDC42BPA-
-
-
-
3GainND
CDC42BPBp.A614V
Missense
SNP
0.472
2-ND
CDC42EP5p.G126E
Missense
SNP
0.338
1LossND
CDC42SE1-
-
-
-
3GainND
CDC42SE2-
-
-
-
1LossND
CDC73-
-
-
-
3GainND
CDCA7L-
-
-
-
3GainND
CDCP1-
-
-
-
1LossND
CDH11p.P684L
p.P410S
p.V402A
Missense
Missense
Missense
SNP
SNP
SNP
0.471
0.454
0.458
2-ND
CDH17-
-
-
-
5AmpND
CDH19p.G73E
Missense
SNP
0.458
2-ND
CDH24-
-
-
-
1LossND
CDH6p.T308K
Missense
SNP
0.458
2-ND
CDHR2-
-
-
-
1LossND
CDHR3-
-
-
-
3GainND
CDHR4-
-
-
-
1LossND
CDHR5p.T437M
Missense
SNP
0.450
2-ND
CDK11Bp.X614_splice
Splice_Site
SNP
0.295
2-ND
CDK13-
-
-
-
3GainND
CDK14-
-
-
-
3GainND
CDK18-
-
-
-
3GainND
CDK20-
-
-
-
3GainND
CDK5-
-
-
-
3GainND
CDK5RAP2p.V1676L
Missense
SNP
0.525
3GainND
CDK6-
-
-
-
3GainND
CDK7-
-
-
-
1LossND
CDK9p.A66T
Missense
SNP
0.329
3GainND
CDKL2p.Q298*
Nonsense
SNP
0.308
2-ND
CDKL3-
-
-
-
1LossND
CDKL5p.G713D
Missense
SNP
0.812
NDNDND
CDKN2Ap.R58*
Nonsense
SNP
0.781
1LossND
CDKN2AIPp.H158Y
Missense
SNP
0.427
2-ND
CDKN2AIPNL-
-
-
-
1LossND
CDKN2B-
-
-
-
1LossND
CDO1-
-
-
-
1LossND
CDSNp.V377Sfs*89
Frame_Shift_Del
DEL
0.799
2-ND
CDV3-
-
-
-
3GainND
CDX1-
-
-
-
1LossND
CDX4p.P105L
Missense
SNP
0.785
NDNDND
CEACAM16-
-
-
-
1LossND
CEACAM18-
-
-
-
1LossND
CEACAM20p.R130Q
Missense
SNP
0.500
2-ND
CEACAM21p.P283S
Missense
SNP
0.363
2-ND
CEACAM4p.P193L
Missense
SNP
0.431
2-ND
CEBPD-
-
-
-
5AmpND
CEBPE-
-
-
-
1LossND
CECR6p.S167F
Missense
SNP
0.603
NDNDND
CEL-
-
-
-
3GainND
CELF3-
-
-
-
3GainND
CELF5p.P268F
Missense
MNP
0.365
1LossND
CELSR3p.P1901L
p.E444K
Missense
Missense
SNP
SNP
0.217
0.243
1LossND
CEMIP2-
-
-
-
3GainND
CENPFp.R234K
Missense
SNP
0.413
3GainND
CENPH-
-
-
-
1LossND
CENPK-
-
-
-
1LossND
CENPL-
-
-
-
3GainND
CENPP-
-
-
-
3GainND
CENPTp.R40K
Missense
SNP
0.555
2-ND
CEP112p.E583K
Missense
SNP
0.208
2-ND
CEP120-
-
-
-
1LossND
CEP131p.R155W
Missense
SNP
0.587
2-ND
CEP170p.A938T
Missense
SNP
0.495
3GainND
CEP170Bp.G197R
p.Q453*
Missense
Nonsense
SNP
SNP
0.430
0.383
2-ND
CEP19-
-
-
-
3GainND
CEP250p.S1310F
Missense
SNP
0.473
2-ND
CEP350-
-
-
-
3GainND
CEP41-
-
-
-
3GainND
CEP63-
-
-
-
3GainND
CEP70-
-
-
-
3GainND
CEP78-
-
-
-
3GainND
CEP89p.E342K
Missense
SNP
0.500
2-ND
CEP97-
-
-
-
3GainND
CER1-
-
-
-
1LossND
CERCAM-
-
-
-
3GainND
CERS1-
-
-
-
1LossND
CERS2-
-
-
-
3GainND
CERS4-
-
-
-
1LossND
CES1p.V136M
Missense
SNP
0.233
2-ND
CES4Ap.G77E
Missense
SNP
0.647
2-ND
CES5Ap.E386K
Missense
SNP
0.444
2-ND
CETN3-
-
-
-
1LossND
CETPp.A336T
Missense
SNP
0.493
2-ND
CFAP100-
-
-
-
3GainND
CFAP126-
-
-
-
3GainND
CFAP157-
-
-
-
3GainND
CFAP44-
-
-
-
3GainND
CFAP45-
-
-
-
3GainND
CFAP54p.R360K
p.R901K
Missense
Missense
SNP
SNP
0.487
0.219
2-ND
CFAP58p.M759I
Missense
SNP
0.324
2-ND
CFAP69-
-
-
-
3GainND
CFAP77-
-
-
-
3GainND
CFD-
-
-
-
1LossND
CFH-
-
-
-
3GainND
CFHR1p.R314Q
Missense
SNP
0.485
3GainND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
3GainND
CFHR4p.D424N
Missense
SNP
0.397
3GainND
CFHR5-
-
-
-
3GainND
CFTRp.L889F
Missense
SNP
0.464
3GainND
CGB3-
-
-
-
1LossND
CGB5-
-
-
-
1LossND
CGGBP1-
-
-
-
1LossND
CGN-
-
-
-
3GainND
CHAF1Ap.H476L
Missense
SNP
0.502
1LossND
CHCHD2-
-
-
-
3GainND
CHCHD3-
-
-
-
3GainND
CHCHD4-
-
-
-
1LossND
CHCHD6-
-
-
-
3GainND
CHCHD7-
-
-
-
5AmpND
CHD1p.D1657Y
Missense
SNP
0.373
1LossND
CHD1L-
-
-
-
3GainND
CHD7-
-
-
-
5AmpND
CHD8-
-
-
-
1LossND
CHDH-
-
-
-
1LossND
CHEK2p.D6N
Missense
SNP
0.373
2-ND
CHI3L1-
-
-
-
3GainND
CHIT1-
-
-
-
3GainND
CHKAp.P201S
Missense
SNP
0.408
2-ND
CHL1-
-
-
-
1LossND
CHML-
-
-
-
3GainND
CHMP2A-
-
-
-
1LossND
CHMP2B-
-
-
-
1LossND
CHMP4A-
-
-
-
1LossND
CHMP4C-
-
-
-
5AmpND
CHMP5-
-
-
-
1LossND
CHMP6p.A133V
Missense
SNP
0.622
2-ND
CHN2-
-
-
-
3GainND
CHPF2-
-
-
-
3GainND
CHRAC1-
-
-
-
5AmpND
CHRD-
-
-
-
3GainND
CHRM2p.W422*
Nonsense
SNP
0.890
3GainND
CHRM3p.G219R
p.G272E
Missense
Missense
SNP
SNP
0.381
0.553
3GainND
CHRM5p.A102S
p.S414L
Missense
Missense
SNP
SNP
0.405
0.593
2-ND
CHRNA4p.E31K
Missense
SNP
0.420
2-ND
CHRNB2-
-
-
-
3GainND
CHST12-
-
-
-
3GainND
CHST13-
-
-
-
3GainND
CHST2-
-
-
-
3GainND
CHST8p.N48S
Missense
SNP
0.413
2-ND
CHSY3p.P483L
Missense
SNP
0.453
1LossND
CHTF18p.G39R
Missense
SNP
0.355
2-ND
CHTOP-
-
-
-
3GainND
CIART-
-
-
-
3GainND
CIDEB-
-
-
-
1LossND
CIDEC-
-
-
-
1LossND
CILP2-
-
-
-
1LossND
CIP2A-
-
-
-
3GainND
CIRBP-
-
-
-
1LossND
CISH-
-
-
-
1LossND
CITp.P1346L
Missense
SNP
0.420
2-ND
CITED2p.P214R
Missense
SNP
0.330
2-ND
CIZ1-
-
-
-
3GainND
CKAP4p.S275F
Missense
SNP
0.381
2-ND
CKM-
-
-
-
1LossND
CKMT2-
-
-
-
1LossND
CKS1B-
-
-
-
3GainND
CKS2-
-
-
-
3GainND
CLASP2-
-
-
-
1LossND
CLASRP-
-
-
-
1LossND
CLCA1p.P752L
Missense
MNP
0.551
2-ND
CLCN1-
-
-
-
3GainND
CLCN2p.A479V
Missense
SNP
0.280
3GainND
CLCN3p.G37R
Missense
SNP
0.439
2-ND
CLCN6p.R735W
Missense
SNP
0.572
2-ND
CLCNKBp.E225K
Missense
SNP
0.571
2-ND
CLDN1-
-
-
-
3GainND
CLDN11-
-
-
-
3GainND
CLDN12-
-
-
-
3GainND
CLDN15-
-
-
-
3GainND
CLDN16-
-
-
-
3GainND
CLDN18p.G198C
Missense
SNP
0.271
3GainND
CLDN3-
-
-
-
3GainND
CLDN4-
-
-
-
3GainND
CLDND1-
-
-
-
3GainND
CLDND2-
-
-
-
1LossND
CLEC11A-
-
-
-
1LossND
CLEC2L-
-
-
-
3GainND
CLEC3B-
-
-
-
1LossND
CLEC4G-
-
-
-
1LossND
CLEC4M-
-
-
-
1LossND
CLEC5A-
-
-
-
3GainND
CLIC3-
-
-
-
3GainND
CLINT1-
-
-
-
1LossND
CLIP2-
-
-
-
3GainND
CLIP4p.E410K
Missense
SNP
0.524
2-ND
CLK2-
-
-
-
3GainND
CLK4-
-
-
-
1LossND
CLPP-
-
-
-
1LossND
CLPTM1-
-
-
-
1LossND
CLRN1-
-
-
-
3GainND
CLSTN1p.G19E
Missense
SNP
0.254
2-ND
CLSTN2-
-
-
-
3GainND
CLTAp.P186F
Missense
MNP
0.746
1LossND
CLTB-
-
-
-
1LossND
CLUHp.X831_splice
Splice_Site
SNP
0.703
2-ND
CLVS1-
-
-
-
5AmpND
CMA1-
-
-
-
1LossND
CMC1-
-
-
-
1LossND
CMSS1-
-
-
-
3GainND
CMTM1p.S132F
Missense
SNP
0.340
2-ND
CMTM5-
-
-
-
1LossND
CMTM6-
-
-
-
1LossND
CMTM7-
-
-
-
1LossND
CMTM8-
-
-
-
1LossND
CMYA5p.E100D
p.E1984K
p.S2145F
p.P3846L
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.439
0.383
0.352
0.406
1LossND
CNBD1p.P412L
Missense
SNP
0.244
5AmpND
CNBP-
-
-
-
3GainND
CNGA2p.G339R
Missense
SNP
0.794
NDNDND
CNGB3-
-
-
-
5AmpND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNN2-
-
-
-
1LossND
CNOT10-
-
-
-
1LossND
CNOT3-
-
-
-
1LossND
CNOT4-
-
-
-
3GainND
CNOT6-
-
-
-
1LossND
CNOT8-
-
-
-
1LossND
CNPY1-
-
-
-
3GainND
CNPY4-
-
-
-
3GainND
CNST-
-
-
-
3GainND
CNTFR-
-
-
-
1LossND
CNTLN-
-
-
-
1LossND
CNTN2-
-
-
-
3GainND
CNTN3-
-
-
-
1LossND
CNTN4p.G367R
p.N893I
Missense
Missense
SNP
SNP
0.535
0.553
1LossND
CNTN5p.P740L
Missense
SNP
0.419
2-ND
CNTN6p.R172Q
Missense
SNP
0.299
1LossND
CNTNAP2p.M442I
Missense
SNP
0.922
3GainND
CNTNAP3-
-
-
-
1LossND
CNTNAP3C-
-
-
-
1LossND
CNTRLp.E1681*
Nonsense
SNP
0.157
3GainND
COA1-
-
-
-
3GainND
COA6-
-
-
-
3GainND
COBLp.G897N
Missense
MNP
0.488
3GainND
COG2-
-
-
-
3GainND
COG3p.E182K
Missense
SNP
0.361
2-ND
COG5-
-
-
-
3GainND
COL11A1p.P1536T
p.E917K
Missense
Missense
SNP
SNP
0.341
0.453
2-ND
COL14A1-
-
-
-
5AmpND
COL15A1-
-
-
-
3GainND
COL19A1p.P423L
p.G424R
p.G992R
Missense
Missense
Missense
MNP
SNP
SNP
0.451
0.378
0.350
2-ND
COL1A2p.X1000_splice
p.P1212S
Splice_Site
Missense
SNP
SNP
0.535
0.324
3GainND
COL20A1p.G579D
Missense
SNP
0.398
2-ND
COL22A1p.G1216E
p.G1150R
p.E959K
Missense
Missense
Missense
SNP
SNP
SNP
0.252
0.639
0.217
5AmpND
COL23A1-
-
-
-
1LossND
COL24A1p.G206E
Missense
SNP
0.537
2-ND
COL26A1-
-
-
-
3GainND
COL27A1p.P85S
Missense
SNP
0.326
3GainND
COL28A1-
-
-
-
3GainND
COL3A1p.A950G
p.P1040S
Missense
Missense
SNP
SNP
0.344
0.370
2-ND
COL4A2p.P75Q
p.P473L
p.P1424S
Missense
Missense
Missense
SNP
SNP
SNP
0.257
0.368
0.483
2-ND
COL4A3p.L1605Q
Missense
SNP
0.503
2-ND
COL4A3BP-
-
-
-
1LossND
COL4A4p.G1334R
p.Q1022*
p.P419L
Missense
Nonsense
Missense
SNP
SNP
SNP
0.264
0.377
0.561
2-ND
COL5A1-
-
-
-
3GainND
COL5A3p.P1014L
p.G692E
Missense
Missense
SNP
SNP
0.438
0.423
1LossND
COL6A3p.C14R
Missense
SNP
0.339
2-ND
COL6A5p.G375E
p.G1428R
Missense
Missense
SNP
SNP
0.538
0.235
3GainND
COL6A6p.R804Q
Missense
SNP
0.246
3GainND
COL7A1-
-
-
-
1LossND
COL8A1-
-
-
-
3GainND
COL9A1p.P895S
p.G736S
Missense
Missense
SNP
SNP
0.295
0.579
2-ND
COL9A2p.D443Y
Missense
SNP
0.572
2-ND
COLEC10-
-
-
-
5AmpND
COLGALT2-
-
-
-
3GainND
COLQ-
-
-
-
1LossND
COMMD10-
-
-
-
1LossND
COMMD2-
-
-
-
3GainND
COMMD5-
-
-
-
4GainND
COMP-
-
-
-
1LossND
COP1-
-
-
-
3GainND
COPAp.R726C
Missense
SNP
0.428
3GainND
COPB2-
-
-
-
3GainND
COPE-
-
-
-
1LossND
COPG1-
-
-
-
3GainND
COPG2-
-
-
-
3GainND
COPS5-
-
-
-
5AmpND
COPS6-
-
-
-
3GainND
COQ4-
-
-
-
3GainND
COQ8A-
-
-
-
3GainND
CORO2A-
-
-
-
3GainND
COX17-
-
-
-
3GainND
COX19-
-
-
-
3GainND
COX20-
-
-
-
3GainND
COX6C-
-
-
-
5AmpND
CP-
-
-
-
3GainND
CPA1-
-
-
-
3GainND
CPA2-
-
-
-
3GainND
CPA3-
-
-
-
3GainND
CPA4-
-
-
-
3GainND
CPA5-
-
-
-
3GainND
CPA6-
-
-
-
5AmpND
CPB1-
-
-
-
3GainND
CPEB2p.P895L
Missense
SNP
0.447
2-ND
CPEB4-
-
-
-
1LossND
CPED1-
-
-
-
3GainND
CPLX2-
-
-
-
1LossND
CPN2-
-
-
-
3GainND
CPNE1p.G478E
Missense
SNP
0.480
2-ND
CPNE3-
-
-
-
5AmpND
CPNE4-
-
-
-
3GainND
CPNE6-
-
-
-
1LossND
CPNE9-
-
-
-
1LossND
CPOX-
-
-
-
3GainND
CPQ-
-
-
-
5AmpND
CPSF1-
-
-
-
4GainND
CPSF4-
-
-
-
3GainND
CPT1Cp.S396F
Missense
SNP
0.492
1LossND
CPVL-
-
-
-
3GainND
CR1p.W2283*
Nonsense
MNP
0.401
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRAT-
-
-
-
3GainND
CRB1-
-
-
-
3GainND
CRB2-
-
-
-
3GainND
CRB3-
-
-
-
1LossND
CRBN-
-
-
-
1LossND
CRCP-
-
-
-
3GainND
CRCT1-
-
-
-
3GainND
CREB3-
-
-
-
1LossND
CREB3L2-
-
-
-
3GainND
CREB3L3p.P341L
Missense
SNP
0.545
1LossND
CREB3L4-
-
-
-
3GainND
CREB5-
-
-
-
3GainND
CREBRF-
-
-
-
1LossND
CREG1-
-
-
-
3GainND
CRELD1-
-
-
-
1LossND
CRH-
-
-
-
5AmpND
CRHBP-
-
-
-
1LossND
CRHR2-
-
-
-
3GainND
CRIP2p.G52E
Missense
SNP
0.510
2-ND
CRISPLD1p.W99L
Missense
SNP
0.647
5AmpND
CRLF1-
-
-
-
1LossND
CRLF3p.D160N
Missense
SNP
0.533
2-ND
CRMP1p.P637L
Missense
SNP
0.369
2-ND
CRNN-
-
-
-
3GainND
CROCC-
-
-
-
1LossND
CROT-
-
-
-
3GainND
CRPp.D34N
Missense
SNP
0.411
3GainND
CRTAMp.E340K
Missense
SNP
0.321
2-ND
CRTAP-
-
-
-
1LossND
CRTC1-
-
-
-
1LossND
CRTC2-
-
-
-
3GainND
CRXp.D130N
Missense
SNP
0.275
1LossND
CRY2p.X11_splice
Splice_Site
SNP
0.338
2-ND
CRYBG3p.G2584E
Missense
SNP
0.317
3GainND
CRYGN-
-
-
-
3GainND
CRYGS-
-
-
-
3GainND
CSF1R-
-
-
-
1LossND
CSF2p.F120C
Missense
SNP
0.377
1LossND
CSF2RBp.P313L
Missense
SNP
0.274
2-ND
CSMD1p.P491S
p.E241G
Missense
Missense
SNP
SNP
0.364
0.355
2-ND
CSMD2p.P232L
Missense
SNP
0.371
2-ND
CSMD3p.E2491K
p.W2486*
Missense
Nonsense
SNP
SNP
0.107
0.121
5AmpND
CSNK1A1-
-
-
-
1LossND
CSNK1G2-
-
-
-
1LossND
CSNK1G3-
-
-
-
1LossND
CSNK2A2p.L250V
Missense
SNP
0.322
2-ND
CSPG5-
-
-
-
1LossND
CSPP1-
-
-
-
5AmpND
CSRNP1-
-
-
-
1LossND
CSRP1-
-
-
-
3GainND
CST1p.C94S
Missense
SNP
0.332
2-ND
CSTA-
-
-
-
3GainND
CSTF3p.E468K
p.L105F
Missense
Missense
SNP
SNP
0.337
0.442
2-ND
CT47B1p.E238K
Missense
SNP
0.703
NDNDND
CTAGE15-
-
-
-
3GainND
CTAGE4-
-
-
-
3GainND
CTAGE6-
-
-
-
3GainND
CTAGE8-
-
-
-
3GainND
CTC-260F20.3p.A136V
Missense
SNP
0.487
NDNDND
CTDP1p.P763L
Missense
SNP
0.443
2-ND
CTDSPLp.P93L
Missense
SNP
0.289
1LossND
CTHRC1-
-
-
-
5AmpND
CTNNA1-
-
-
-
1LossND
CTNNA2p.G100C
p.R760C
Missense
Missense
SNP
SNP
0.532
0.347
2-ND
CTNNAL1-
-
-
-
3GainND
CTNNB1-
-
-
-
1LossND
CTSAp.P132L
p.L391F
Missense
Missense
SNP
SNP
0.400
0.451
2-ND
CTSE-
-
-
-
3GainND
CTSG-
-
-
-
1LossND
CTSK-
-
-
-
3GainND
CTSL-
-
-
-
3GainND
CTSS-
-
-
-
3GainND
CTSV-
-
-
-
3GainND
CTTNBP2-
-
-
-
3GainND
CTU1-
-
-
-
1LossND
CTXN1-
-
-
-
1LossND
CTXN3-
-
-
-
1LossND
CUL1-
-
-
-
3GainND
CUL9p.S1733N
Missense
SNP
0.414
2-ND
CUX1p.P936L
Missense
SNP
0.544
3GainND
CUX2p.P385S
Missense
SNP
0.466
2-ND
CWC27-
-
-
-
1LossND
CX3CR1-
-
-
-
1LossND
CXCL14-
-
-
-
1LossND
CXCR1p.R313C
Missense
SNP
0.336
2-ND
CXCR2p.R322C
Missense
SNP
0.486
2-ND
CXCR6-
-
-
-
1LossND
CXXC5-
-
-
-
1LossND
CYB561D2-
-
-
-
1LossND
CYB5R1p.Q217*
Nonsense
SNP
0.400
3GainND
CYC1-
-
-
-
5AmpND
CYCS-
-
-
-
3GainND
CYFIP2-
-
-
-
1LossND
CYHR1-
-
-
-
4GainND
CYLC2-
-
-
-
3GainND
CYP11B1-
-
-
-
5AmpND
CYP11B2-
-
-
-
5AmpND
CYP1A1p.E369K;p.M368I
Missense
MNP
0.549
2-ND
CYP24A1p.R386K
Missense
SNP
0.534
2-ND
CYP2A6p.G74E
Missense
SNP
0.442
2-ND
CYP2B6p.A279T
Missense
SNP
0.240
2-ND
CYP2J2p.R371K
Missense
SNP
0.364
2-ND
CYP2W1p.P39R
Missense
SNP
0.355
3GainND
CYP3A4-
-
-
-
3GainND
CYP3A43-
-
-
-
3GainND
CYP3A5p.T310N
Missense
SNP
0.406
3GainND
CYP3A7-
-
-
-
3GainND
CYP3A7-CYP3A51P-
-
-
-
3GainND
CYP4A11p.D517N
p.D293H
Missense
Missense
SNP
SNP
0.348
0.367
2-ND
CYP4A22p.G439S
p.G501R
Missense
Missense
SNP
SNP
0.576
0.309
2-ND
CYP4F2p.P279S
Missense
SNP
0.391
2-ND
CYP4F22p.D455N
Missense
SNP
0.375
2-ND
CYP51A1-
-
-
-
3GainND
CYP7A1-
-
-
-
5AmpND
CYP7B1-
-
-
-
5AmpND
CYP8B1-
-
-
-
1LossND
CYREN-
-
-
-
3GainND
CYSLTR2p.S7F
Missense
SNP
0.333
2-ND
CYSRT1-
-
-
-
3GainND
CYSTM1-
-
-
-
1LossND
CYTH2-
-
-
-
1LossND
CYTH3-
-
-
-
3GainND
DAB2IP-
-
-
-
3GainND
DACT1p.G369E
p.G631E
Missense
Missense
SNP
SNP
0.410
0.411
2-ND
DACT3p.D66N
Missense
SNP
0.443
1LossND
DAD1-
-
-
-
1LossND
DAG1-
-
-
-
1LossND
DAGLB-
-
-
-
3GainND
DALRD3-
-
-
-
1LossND
DAP3-
-
-
-
3GainND
DAPK1p.G772E
Missense
SNP
0.301
3GainND
DAPK3-
-
-
-
1LossND
DARS2-
-
-
-
3GainND
DAZAP1p.E93K
Missense
SNP
0.517
1LossND
DAZL-
-
-
-
1LossND
DBF4-
-
-
-
3GainND
DBH-
-
-
-
3GainND
DBN1-
-
-
-
1LossND
DBNL-
-
-
-
3GainND
DBP-
-
-
-
1LossND
DBR1-
-
-
-
3GainND
DBTp.K222*
p.E148K
Nonsense
Missense
SNP
SNP
0.540
0.616
2-ND
DCAF1-
-
-
-
1LossND
DCAF10-
-
-
-
1LossND
DCAF11-
-
-
-
1LossND
DCAF12-
-
-
-
1LossND
DCAF13p.G81E
p.W346*
Missense
Nonsense
SNP
SNP
0.236
0.077
5AmpND
DCAF4L2-
-
-
-
5AmpND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCANP1p.G71E
Missense
SNP
0.374
1LossND
DCBLD2-
-
-
-
3GainND
DCCp.E278K
Missense
SNP
0.386
2-ND
DCHS2p.D2626N
p.H2144Y
Missense
Missense
SNP
SNP
0.382
0.574
2-ND
DCLK1p.E454K
Missense
SNP
0.420
2-ND
DCLK3p.R291*
Nonsense
SNP
0.216
1LossND
DCP1A-
-
-
-
1LossND
DCP2-
-
-
-
1LossND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DCSTAMP-
-
-
-
5AmpND
DCTN1-
-
-
-
1LossND
DCTN3-
-
-
-
1LossND
DCTN4-
-
-
-
1LossND
DCUN1D1-
-
-
-
3GainND
DDC-
-
-
-
3GainND
DDHD2p.G87V
Missense
SNP
0.263
2-ND
DDI1p.E383K
Missense
SNP
0.429
2-ND
DDIASp.P347L
Missense
SNP
0.404
2-ND
DDR2-
-
-
-
3GainND
DDX31p.R72K
Missense
SNP
0.601
3GainND
DDX4-
-
-
-
1LossND
DDX41-
-
-
-
1LossND
DDX46-
-
-
-
1LossND
DDX49-
-
-
-
1LossND
DDX56-
-
-
-
3GainND
DDX58-
-
-
-
1LossND
DDX59-
-
-
-
3GainND
DDX60Lp.L1576F
Missense
SNP
0.403
2-ND
DEC1-
-
-
-
3GainND
DECR1-
-
-
-
5AmpND
DEDD-
-
-
-
3GainND
DEGS1-
-
-
-
3GainND
DELE1-
-
-
-
1LossND
DENND1A-
-
-
-
3GainND
DENND1B-
-
-
-
3GainND
DENND1C-
-
-
-
1LossND
DENND2A-
-
-
-
3GainND
DENND3-
-
-
-
5AmpND
DENND4Bp.S1106F
Missense
SNP
0.593
3GainND
DENND4C-
-
-
-
1LossND
DENND6A-
-
-
-
1LossND
DEPDC1B-
-
-
-
1LossND
DEPDC4p.G187R
p.G137E
Missense
Missense
SNP
SNP
0.464
0.500
2-ND
DEPTOR-
-
-
-
5AmpND
DERL1-
-
-
-
5AmpND
DESI2-
-
-
-
3GainND
DGAT1-
-
-
-
4GainND
DGKB-
-
-
-
3GainND
DGKG-
-
-
-
3GainND
DGKHp.A537V
Missense
SNP
0.328
2-ND
DGKI-
-
-
-
3GainND
DGUOK-
-
-
-
1LossND
DHDH-
-
-
-
1LossND
DHFR-
-
-
-
1LossND
DHFR2-
-
-
-
3GainND
DHRS1-
-
-
-
1LossND
DHRS2-
-
-
-
1LossND
DHRS4-
-
-
-
1LossND
DHRS4L2-
-
-
-
1LossND
DHX29-
-
-
-
1LossND
DHX30-
-
-
-
1LossND
DHX34p.P617S
p.P1036L
Missense
Missense
SNP
SNP
0.497
0.486
1LossND
DHX36-
-
-
-
3GainND
DHX37p.P1055S
Missense
SNP
0.467
2-ND
DHX9-
-
-
-
3GainND
DIAPH1-
-
-
-
1LossND
DIDO1p.P1848S
Missense
SNP
0.344
2-ND
DIMT1-
-
-
-
1LossND
DIP2Bp.P690L
Missense
SNP
0.340
2-ND
DIRAS1-
-
-
-
1LossND
DIRAS2p.D179N
p.G120E
Missense
Missense
SNP
SNP
0.575
0.265
3GainND
DIRC2-
-
-
-
3GainND
DISC1p.S100F
Missense
SNP
0.408
3GainND
DISP1-
-
-
-
3GainND
DISP2p.E479K
p.G1154E
Missense
Missense
SNP
SNP
0.501
0.555
2-ND
DKKL1-
-
-
-
1LossND
DLC1p.A767V
p.G34E
Missense
Missense
SNP
SNP
0.309
0.261
2-ND
DLD-
-
-
-
3GainND
DLEC1-
-
-
-
1LossND
DLG1-
-
-
-
3GainND
DLG4p.G462E
Missense
SNP
0.668
2-ND
DLX5p.Q148*
Nonsense
SNP
0.485
3GainND
DLX6-
-
-
-
3GainND
DMAC1-
-
-
-
1LossND
DMGDH-
-
-
-
1LossND
DMP1p.E464K
Missense
SNP
0.518
2-ND
DMPK-
-
-
-
1LossND
DMRT1p.M233I
Missense
SNP
0.846
1LossND
DMRT2-
-
-
-
1LossND
DMRT3-
-
-
-
1LossND
DMRTA1-
-
-
-
1LossND
DMTF1-
-
-
-
3GainND
DMWDp.P483L
Missense
MNP
0.396
1LossND
DMXL1p.R2769*
Nonsense
SNP
0.535
1LossND
DNAAF5-
-
-
-
3GainND
DNAH1-
-
-
-
1LossND
DNAH10OSp.G119K
Missense
MNP
0.454
NDNDND
DNAH11p.S2370L
p.R3064K
p.P3283L
Missense
Missense
Missense
SNP
SNP
SNP
0.481
0.378
0.444
3GainND
DNAH12p.D1492N
p.G130E
Missense
Missense
SNP
SNP
0.303
0.220
1LossND
DNAH14p.G2611E
Missense
SNP
0.409
3GainND
DNAH17p.P3994L
Missense
SNP
0.238
2-ND
DNAH2p.R2523*
p.S2560F
Nonsense
Missense
SNP
SNP
0.233
0.265
2-ND
DNAH5p.G3206E
p.R665K
Missense
Missense
SNP
SNP
0.464
0.477
2-ND
DNAH7p.R2099Q
Missense
SNP
0.412
2-ND
DNAH8p.S4320L
Missense
SNP
0.468
2-ND
DNAH9p.P968S
Missense
SNP
0.733
2-ND
DNAI1-
-
-
-
1LossND
DNAJA1-
-
-
-
1LossND
DNAJB11-
-
-
-
3GainND
DNAJB5-
-
-
-
1LossND
DNAJB6-
-
-
-
3GainND
DNAJB8-
-
-
-
3GainND
DNAJB9-
-
-
-
3GainND
DNAJC13-
-
-
-
3GainND
DNAJC18-
-
-
-
1LossND
DNAJC19-
-
-
-
3GainND
DNAJC2-
-
-
-
3GainND
DNAJC25-
-
-
-
3GainND
DNAJC25-GNG10-
-
-
-
3GainND
DNAJC30-
-
-
-
3GainND
DNAJC5B-
-
-
-
5AmpND
DNAJC7p.M205I
Missense
SNP
0.224
2-ND
DNALI1p.E89K
Missense
SNP
0.331
2-ND
DNASE1L3-
-
-
-
1LossND
DNASE2p.P305S
Missense
SNP
0.438
2-ND
DND1-
-
-
-
1LossND
DNERp.L468P
Missense
SNP
0.335
2-ND
DNLZ-
-
-
-
3GainND
DNM1-
-
-
-
3GainND
DNM3-
-
-
-
3GainND
DNMT3Ap.P709L
Missense
SNP
0.361
2-ND
DOCK11p.D1389N
Missense
SNP
0.838
NDNDND
DOCK2p.E1614Q
Missense
SNP
0.276
1LossND
DOCK3p.R285K
Missense
SNP
0.259
1LossND
DOCK4p.L1237F
p.G1045D
Missense
Missense
SNP
SNP
0.500
0.451
3GainND
DOCK8-
-
-
-
1LossND
DOCK9p.G1788R
Missense
SNP
0.445
2-ND
DOHH-
-
-
-
1LossND
DOK3-
-
-
-
1LossND
DOLK-
-
-
-
3GainND
DOLPP1-
-
-
-
3GainND
DOPEY1p.P536F
Missense
MNP
0.488
NDNDND
DOPEY2p.Q624H
Missense
SNP
0.173
NDNDND
DOT1L-
-
-
-
1LossND
DPEP3p.G207S
Missense
SNP
0.345
2-ND
DPH3-
-
-
-
1LossND
DPH7-
-
-
-
3GainND
DPM2-
-
-
-
3GainND
DPM3-
-
-
-
3GainND
DPP10p.G397E
Missense
SNP
0.414
2-ND
DPP6-
-
-
-
3GainND
DPP7-
-
-
-
3GainND
DPP9-
-
-
-
1LossND
DPPA2-
-
-
-
3GainND
DPPA4-
-
-
-
3GainND
DPRX-
-
-
-
1LossND
DPTp.M100I
Missense
SNP
0.313
3GainND
DPY19L1p.S654F
Missense
SNP
0.416
3GainND
DPY19L2p.G237E
Missense
SNP
0.333
2-ND
DPY19L4-
-
-
-
5AmpND
DPYS-
-
-
-
5AmpND
DPYSL3-
-
-
-
1LossND
DQX1p.S275F
Missense
SNP
0.268
1LossND
DRC1p.F362L
Missense
SNP
0.346
2-ND
DRD1-
-
-
-
1LossND
DRD3-
-
-
-
3GainND
DSC2p.Q465*
Nonsense
SNP
0.436
2-ND
DSCAML1p.E267K
Missense
SNP
0.514
2-ND
DSCC1-
-
-
-
5AmpND
DSELp.P777L
p.V510L
Missense
Missense
SNP
SNP
0.424
0.388
2-ND
DSG2p.S363L
p.L1023F
Missense
Missense
SNP
SNP
0.268
0.380
2-ND
DSTYK-
-
-
-
3GainND
DTHD1p.D672N
Missense
SNP
0.338
2-ND
DTL-
-
-
-
3GainND
DTNAp.R166Q
Missense
SNP
0.391
2-ND
DTNBp.S86F
Missense
SNP
0.477
2-ND
DTWD1p.P142S
Missense
SNP
0.388
2-ND
DTWD2-
-
-
-
1LossND
DTX2-
-
-
-
3GainND
DTX3L-
-
-
-
3GainND
DUOX2p.R1110L
Missense
SNP
0.602
2-ND
DUS3L-
-
-
-
1LossND
DUS4L-
-
-
-
3GainND
DUSP1-
-
-
-
1LossND
DUSP10-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP22p.T105I
Missense
SNP
0.280
2-ND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DUSP7-
-
-
-
1LossND
DUXA-
-
-
-
1LossND
DVL3-
-
-
-
3GainND
DYNC1H1p.S2681F
Missense
SNP
0.399
2-ND
DYNC1I1-
-
-
-
3GainND
DYNC1LI1-
-
-
-
1LossND
DYRK3-
-
-
-
3GainND
DZIP1Lp.P642L
Missense
SNP
0.202
3GainND
DZIP3-
-
-
-
3GainND
E2F5-
-
-
-
5AmpND
E2F7p.E392K
Missense
SNP
0.221
2-ND
EAF1-
-
-
-
1LossND
EAF2-
-
-
-
3GainND
EBAG9-
-
-
-
5AmpND
EBF1-
-
-
-
1LossND
EBI3-
-
-
-
1LossND
EBLN2-
-
-
-
1LossND
ECE2-
-
-
-
3GainND
ECM1-
-
-
-
3GainND
ECM2-
-
-
-
3GainND
ECPAS-
-
-
-
3GainND
ECSCR-
-
-
-
1LossND
ECT2-
-
-
-
3GainND
EDARADD-
-
-
-
3GainND
EDDM3A-
-
-
-
1LossND
EDDM3B-
-
-
-
1LossND
EDEM1-
-
-
-
1LossND
EDEM3-
-
-
-
3GainND
EDF1-
-
-
-
3GainND
EDIL3-
-
-
-
1LossND
EEF1AKMT4-
-
-
-
3GainND
EEF1AKMT4-ECE2-
-
-
-
3GainND
EEF1D-
-
-
-
5AmpND
EEF2p.P810F
Missense
MNP
0.239
1LossND
EEFSEC-
-
-
-
3GainND
EEPD1-
-
-
-
3GainND
EFCAB1-
-
-
-
5AmpND
EFCAB10-
-
-
-
3GainND
EFCAB12-
-
-
-
3GainND
EFCAB2-
-
-
-
3GainND
EFCAB5p.P832L
Missense
SNP
0.662
2-ND
EFCAB8p.G281K
Missense
MNP
0.415
2-ND
EFCAB9-
-
-
-
1LossND
EFCC1-
-
-
-
3GainND
EFHBp.K206*
Nonsense
SNP
0.254
1LossND
EFHC2p.Q224*
Nonsense
SNP
0.759
NDNDND
EFNA1-
-
-
-
3GainND
EFNA2-
-
-
-
1LossND
EFNA3-
-
-
-
3GainND
EFNA4-
-
-
-
3GainND
EFNA5-
-
-
-
1LossND
EFR3A-
-
-
-
5AmpND
EFS-
-
-
-
1LossND
EGFp.G344E
Missense
SNP
0.406
2-ND
EGFL7p.S226L
Missense
SNP
0.380
3GainND
EGFL8p.E205K
Missense
SNP
0.811
2-ND
EGFR-
-
-
-
3GainND
EGLN1-
-
-
-
3GainND
EGR1-
-
-
-
1LossND
EGR2p.G275D
Missense
SNP
0.473
2-ND
EHBP1p.A1203V
Missense
SNP
0.516
2-ND
EHD2-
-
-
-
1LossND
EHHADH-
-
-
-
3GainND
EHMT1-
-
-
-
3GainND
EIF1B-
-
-
-
1LossND
EIF2A-
-
-
-
3GainND
EIF2AK1-
-
-
-
3GainND
EIF2B5-
-
-
-
3GainND
EIF2D-
-
-
-
3GainND
EIF3B-
-
-
-
3GainND
EIF3E-
-
-
-
5AmpND
EIF3H-
-
-
-
5AmpND
EIF4A2-
-
-
-
3GainND
EIF4E1B-
-
-
-
1LossND
EIF4E3-
-
-
-
1LossND
EIF4EBP3-
-
-
-
1LossND
EIF4G1p.Q217*
Nonsense
SNP
0.227
3GainND
EIF4H-
-
-
-
3GainND
EIF5A2-
-
-
-
3GainND
EIF5Bp.L838F
Missense
SNP
0.477
2-ND
ELANE-
-
-
-
1LossND
ELAVL1-
-
-
-
1LossND
ELAVL2-
-
-
-
1LossND
ELAVL3p.G19D
Missense
SNP
0.407
2-ND
ELF3-
-
-
-
3GainND
ELFN1-
-
-
-
3GainND
ELK4-
-
-
-
3GainND
ELL-
-
-
-
1LossND
ELL2-
-
-
-
1LossND
ELMO1-
-
-
-
3GainND
ELN-
-
-
-
3GainND
ELOC-
-
-
-
5AmpND
ELOVL7p.X131_splice
Splice_Site
SNP
0.461
1LossND
ELP1-
-
-
-
3GainND
ELP6-
-
-
-
1LossND
ELSPBP1-
-
-
-
1LossND
EMB-
-
-
-
1LossND
EMC10-
-
-
-
1LossND
EMC2-
-
-
-
5AmpND
EMC3-
-
-
-
1LossND
EMC9-
-
-
-
1LossND
EMILIN3p.A416T
Missense
SNP
0.333
2-ND
EML2-
-
-
-
1LossND
EML4p.G377S
Missense
SNP
0.328
2-ND
EML5p.G225E
Missense
SNP
0.473
2-ND
EMP3-
-
-
-
1LossND
EN2-
-
-
-
3GainND
ENAH-
-
-
-
3GainND
ENC1-
-
-
-
1LossND
ENDOG-
-
-
-
3GainND
ENG-
-
-
-
3GainND
ENGASEp.P149S
Missense
SNP
0.612
2-ND
ENHO-
-
-
-
1LossND
ENOX1p.R297W
Missense
SNP
0.314
2-ND
ENPP2-
-
-
-
5AmpND
ENSA-
-
-
-
3GainND
ENTPD2-
-
-
-
3GainND
ENTPD3-
-
-
-
1LossND
ENTPD8-
-
-
-
3GainND
ENTR1-
-
-
-
3GainND
ENY2-
-
-
-
5AmpND
EOGT-
-
-
-
1LossND
EOMES-
-
-
-
1LossND
EP400p.L1133F
Missense
SNP
0.364
2-ND
EPB41L3p.E447K
Missense
SNP
0.395
2-ND
EPB41L4A-
-
-
-
1LossND
EPB41L4B-
-
-
-
3GainND
EPC2p.D395N
Missense
SNP
0.499
2-ND
EPDR1p.G141R
Missense
SNP
0.537
3GainND
EPHA1-
-
-
-
3GainND
EPHA3-
-
-
-
1LossND
EPHA6-
-
-
-
3GainND
EPHA7-
-
-
-
1LossND
EPHA8p.L197F
Missense
SNP
0.312
2-ND
EPHB1-
-
-
-
3GainND
EPHB3-
-
-
-
3GainND
EPHB4-
-
-
-
3GainND
EPHB6-
-
-
-
3GainND
EPHX1-
-
-
-
3GainND
EPM2AIP1-
-
-
-
1LossND
EPO-
-
-
-
3GainND
EPPK1-
-
-
-
5AmpND
EPRSp.G1475R
Missense
SNP
0.419
3GainND
EPS8L1p.M720I;p.E721K
Missense
MNP
0.377
2-ND
EPS8L3p.P236S
Missense
SNP
0.367
2-ND
EQTN-
-
-
-
1LossND
ERAP1-
-
-
-
1LossND
ERAP2-
-
-
-
1LossND
ERBIN-
-
-
-
1LossND
ERC2-
-
-
-
1LossND
ERCC1p.A214V
Missense
SNP
0.457
1LossND
ERCC2-
-
-
-
1LossND
ERCC3p.K171N
Missense
SNP
0.517
2-ND
ERCC5p.E1135K
Missense
SNP
0.223
2-ND
ERCC6p.P221L
Missense
SNP
0.373
2-ND
ERCC6L2-
-
-
-
3GainND
ERCC8-
-
-
-
1LossND
ERGIC1-
-
-
-
1LossND
ERI3p.G44R
Missense
SNP
0.297
2-ND
ERICH3p.E474K
Missense
SNP
0.612
2-ND
ERICH5-
-
-
-
5AmpND
ERICH6p.E251K
Missense
SNP
0.676
3GainND
ERLIN1p.L196F
Missense
SNP
0.448
2-ND
ERLIN2p.S12Y
Missense
SNP
0.515
2-ND
ERMP1-
-
-
-
1LossND
ERO1B-
-
-
-
3GainND
ERP44-
-
-
-
3GainND
ERVV-1-
-
-
-
1LossND
ERVV-2-
-
-
-
1LossND
ESM1-
-
-
-
1LossND
ESR1p.G20E
Missense
SNP
0.321
2-ND
ESRP1-
-
-
-
5AmpND
ESRRG-
-
-
-
3GainND
ESYT2-
-
-
-
3GainND
ESYT3-
-
-
-
3GainND
ETF1-
-
-
-
1LossND
ETFB-
-
-
-
1LossND
ETNK2-
-
-
-
3GainND
ETNPPLp.P225L
Missense
SNP
0.331
2-ND
ETV1-
-
-
-
3GainND
ETV3-
-
-
-
3GainND
ETV3L-
-
-
-
3GainND
ETV5-
-
-
-
3GainND
EVI5L-
-
-
-
1LossND
EVX1-
-
-
-
3GainND
EXD3-
-
-
-
3GainND
EXO1-
-
-
-
3GainND
EXOC3L2-
-
-
-
1LossND
EXOC4-
-
-
-
3GainND
EXOC8-
-
-
-
3GainND
EXOG-
-
-
-
1LossND
EXOSC2-
-
-
-
3GainND
EXOSC3-
-
-
-
1LossND
EXOSC4-
-
-
-
5AmpND
EXOSC7-
-
-
-
1LossND
EXT1-
-
-
-
5AmpND
EYA1-
-
-
-
5AmpND
EYSp.P1631S
p.Q844H
Missense
Missense
SNP
SNP
0.433
0.304
2-ND
EZH2-
-
-
-
3GainND
F11R-
-
-
-
3GainND
F12-
-
-
-
1LossND
F13Bp.E394K
Missense
SNP
0.498
3GainND
F2R-
-
-
-
1LossND
F2RL1-
-
-
-
1LossND
F2RL2-
-
-
-
1LossND
F5-
-
-
-
3GainND
FABP12-
-
-
-
5AmpND
FABP4-
-
-
-
5AmpND
FABP5-
-
-
-
5AmpND
FABP6-
-
-
-
1LossND
FABP9-
-
-
-
5AmpND
FAF2-
-
-
-
1LossND
FAIM-
-
-
-
3GainND
FAM102A-
-
-
-
3GainND
FAM107A-
-
-
-
1LossND
FAM110B-
-
-
-
5AmpND
FAM114A2-
-
-
-
1LossND
FAM120A-
-
-
-
3GainND
FAM120AOS-
-
-
-
3GainND
FAM122A-
-
-
-
3GainND
FAM126A-
-
-
-
3GainND
FAM129A-
-
-
-
3GainND
FAM129B-
-
-
-
3GainND
FAM131A-
-
-
-
3GainND
FAM131B-
-
-
-
3GainND
FAM133B-
-
-
-
3GainND
FAM134Cp.A266V
Missense
SNP
0.215
NDNDND
FAM135Bp.E577K
p.S11L
Missense
Missense
SNP
SNP
0.170
0.257
5AmpND
FAM13B-
-
-
-
1LossND
FAM151B-
-
-
-
1LossND
FAM153A-
-
-
-
1LossND
FAM153B-
-
-
-
1LossND
FAM153C-
-
-
-
1LossND
FAM155Ap.S403L
Missense
SNP
0.239
2-ND
FAM160A2p.P729S
p.P728L
Missense
Missense
SNP
SNP
0.459
0.473
2-ND
FAM161Ap.R679K
Missense
SNP
0.462
2-ND
FAM162A-
-
-
-
3GainND
FAM163A-
-
-
-
3GainND
FAM163B-
-
-
-
3GainND
FAM166A-
-
-
-
3GainND
FAM166B-
-
-
-
1LossND
FAM169A-
-
-
-
1LossND
FAM170A-
-
-
-
1LossND
FAM172A-
-
-
-
1LossND
FAM174A-
-
-
-
1LossND
FAM177B-
-
-
-
3GainND
FAM180A-
-
-
-
3GainND
FAM185A-
-
-
-
3GainND
FAM189A2-
-
-
-
3GainND
FAM189B-
-
-
-
3GainND
FAM193B-
-
-
-
1LossND
FAM198A-
-
-
-
1LossND
FAM19A1-
-
-
-
1LossND
FAM19A4-
-
-
-
1LossND
FAM200A-
-
-
-
3GainND
FAM205A-
-
-
-
1LossND
FAM205C-
-
-
-
1LossND
FAM206A-
-
-
-
3GainND
FAM208A-
-
-
-
1LossND
FAM20B-
-
-
-
3GainND
FAM20C-
-
-
-
3GainND
FAM214Bp.D164N
Missense
SNP
0.821
1LossND
FAM217Bp.P221L
Missense
SNP
0.470
2-ND
FAM219A-
-
-
-
1LossND
FAM220A-
-
-
-
3GainND
FAM221A-
-
-
-
3GainND
FAM221B-
-
-
-
1LossND
FAM240A-
-
-
-
1LossND
FAM3C-
-
-
-
3GainND
FAM3Dp.X108_splice
Splice_Site
SNP
0.430
1LossND
FAM43A-
-
-
-
3GainND
FAM49B-
-
-
-
5AmpND
FAM53C-
-
-
-
1LossND
FAM65Ap.E1068Q
Missense
SNP
0.314
NDNDND
FAM69B-
-
-
-
3GainND
FAM71A-
-
-
-
3GainND
FAM71Bp.G322E
p.P82S
Missense
Missense
SNP
SNP
0.491
0.377
1LossND
FAM71E1-
-
-
-
1LossND
FAM71F1-
-
-
-
3GainND
FAM71F2-
-
-
-
3GainND
FAM78A-
-
-
-
3GainND
FAM78B-
-
-
-
3GainND
FAM81Ap.R188K
Missense
SNP
0.304
2-ND
FAM81B-
-
-
-
1LossND
FAM83A-
-
-
-
5AmpND
FAM83E-
-
-
-
1LossND
FAM83Hp.P627L
Missense
SNP
0.668
5AmpND
FAM84B-
-
-
-
5AmpND
FAM89A-
-
-
-
3GainND
FAM91A1p.V587G
Missense
SNP
0.241
5AmpND
FAM92A-
-
-
-
5AmpND
FAM92A1p.N171K
Missense
SNP
0.672
NDNDND
FAM95C-
-
-
-
1LossND
FAM9Bp.P31S
Missense
SNP
0.791
NDNDND
FANCC-
-
-
-
3GainND
FANCD2-
-
-
-
1LossND
FANCD2OS-
-
-
-
1LossND
FANCEp.S180F
Missense
SNP
0.463
2-ND
FANCG-
-
-
-
1LossND
FAPp.G218R
Missense
SNP
0.289
2-ND
FASLG-
-
-
-
3GainND
FASTK-
-
-
-
3GainND
FAT1p.G3953N
p.D3414A
p.E3391K
Missense
Missense
Missense
MNP
SNP
SNP
0.427
0.458
0.408
2-ND
FAT2-
-
-
-
1LossND
FAT3p.D934N
p.Q1735E
Missense
Missense
SNP
SNP
0.347
0.180
2-ND
FAT4p.G3420E
p.G3932E
p.R4234Q
p.S4602L
p.P4693L
p.G4901E
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.342
0.567
0.398
0.464
0.387
0.379
2-ND
FAXDC2-
-
-
-
1LossND
FBLL1-
-
-
-
1LossND
FBLN2-
-
-
-
1LossND
FBN2p.G289R
Missense
SNP
0.444
1LossND
FBN3p.G277R
Missense
SNP
0.387
1LossND
FBP1-
-
-
-
3GainND
FBP2-
-
-
-
3GainND
FBRSp.P119L
Missense
SNP
0.349
2-ND
FBXL12-
-
-
-
1LossND
FBXL13-
-
-
-
3GainND
FBXL17-
-
-
-
1LossND
FBXL18-
-
-
-
3GainND
FBXL2-
-
-
-
1LossND
FBXL5p.D398N
Missense
SNP
0.330
2-ND
FBXL6-
-
-
-
4GainND
FBXO10p.S616N
Missense
SNP
0.717
1LossND
FBXO2p.W282*
Nonsense
SNP
0.387
2-ND
FBXO24-
-
-
-
3GainND
FBXO28-
-
-
-
3GainND
FBXO32-
-
-
-
5AmpND
FBXO33p.E74K
Missense
SNP
0.193
2-ND
FBXO38p.D546N
Missense
SNP
0.305
1LossND
FBXO40-
-
-
-
3GainND
FBXO43-
-
-
-
5AmpND
FBXO45-
-
-
-
3GainND
FBXO46-
-
-
-
1LossND
FBXW11-
-
-
-
1LossND
FBXW12-
-
-
-
1LossND
FBXW2-
-
-
-
3GainND
FBXW5-
-
-
-
3GainND
FCAMR-
-
-
-
3GainND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCER2-
-
-
-
1LossND
FCGBPp.E2242K
p.H479Y
Missense
Missense
SNP
SNP
0.191
0.446
2-ND
FCGR1A-
-
-
-
3GainND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2Cp.S80F
Missense
SNP
0.379
3GainND
FCGR3A-
-
-
-
3GainND
FCGR3Bp.X229_splice
Splice_Site
SNP
0.233
3GainND
FCGRT-
-
-
-
1LossND
FCHO2-
-
-
-
1LossND
FCHSD1-
-
-
-
1LossND
FCMR-
-
-
-
3GainND
FCN1-
-
-
-
3GainND
FCN2p.P53S
Missense
SNP
0.960
3GainND
FCRL1-
-
-
-
3GainND
FCRL2p.P201S
Missense
SNP
0.508
3GainND
FCRL3p.H512Y
Missense
SNP
0.408
3GainND
FCRL4-
-
-
-
3GainND
FCRL5p.P573S
p.S479F
Missense
Missense
SNP
SNP
0.382
0.377
3GainND
FCRL6p.M70I
Missense
SNP
0.484
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDPS-
-
-
-
3GainND
FEM1A-
-
-
-
1LossND
FEM1C-
-
-
-
1LossND
FER-
-
-
-
1LossND
FER1L6p.R193K
Missense
SNP
0.186
5AmpND
FERD3Lp.G40R
Missense
SNP
0.256
3GainND
FETUB-
-
-
-
3GainND
FEZ2p.L225V
Missense
SNP
0.334
2-ND
FEZF1-
-
-
-
3GainND
FEZF2-
-
-
-
1LossND
FGAp.G358R
Missense
SNP
0.350
2-ND
FGD3-
-
-
-
3GainND
FGD5-
-
-
-
1LossND
FGD6p.N919I
Missense
SNP
0.460
2-ND
FGF1-
-
-
-
1LossND
FGF12-
-
-
-
3GainND
FGF18-
-
-
-
1LossND
FGF21p.G112E
Missense
SNP
0.473
1LossND
FGF22-
-
-
-
1LossND
FGF3p.R44W
Missense
SNP
0.336
2-ND
FGFR4-
-
-
-
1LossND
FGGp.*454Lext*5
Nonstop
SNP
0.611
2-ND
FGL2-
-
-
-
3GainND
FH-
-
-
-
3GainND
FHDC1p.R164*
Nonsense
SNP
0.525
2-ND
FHIT-
-
-
-
1LossND
FHL5p.S230C
Missense
SNP
0.316
2-ND
FHOD3p.S129F
Missense
SNP
0.407
2-ND
FIBCD1-
-
-
-
3GainND
FIGNL1-
-
-
-
3GainND
FILIP1p.E517K;p.M516I
Missense
MNP
0.588
2-ND
FILIP1L-
-
-
-
3GainND
FIS1-
-
-
-
3GainND
FITM1-
-
-
-
1LossND
FKBP14-
-
-
-
3GainND
FKBP15-
-
-
-
3GainND
FKBP6-
-
-
-
3GainND
FKBP7p.P115S
Missense
SNP
0.357
2-ND
FKBP8-
-
-
-
1LossND
FKBP9p.L562F
Missense
SNP
0.333
3GainND
FKRP-
-
-
-
1LossND
FKTN-
-
-
-
3GainND
FLAD1-
-
-
-
3GainND
FLGp.S1764F
p.R1110W
p.S742C
p.S702*
Missense
Missense
Missense
Nonsense
SNP
SNP
SNP
SNP
0.330
0.449
0.156
0.143
3GainND
FLG2p.G2145R
Missense
SNP
0.394
3GainND
FLNB-
-
-
-
1LossND
FLNCp.A32S
p.G1069S
p.E2452K
Missense
Missense
Missense
SNP
SNP
SNP
0.616
0.564
0.515
3GainND
FLT3LG-
-
-
-
1LossND
FLT4-
-
-
-
1LossND
FLVCR1-
-
-
-
3GainND
FMC1-
-
-
-
3GainND
FMN2p.P897L
p.R1544Q
Missense
Missense
SNP
SNP
0.506
0.444
3GainND
FMNL3p.K349T
Missense
SNP
0.376
2-ND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FN1p.E985K
Missense
SNP
0.325
2-ND
FNBP1-
-
-
-
3GainND
FNDC1p.E595K
Missense
SNP
0.295
2-ND
FNDC3B-
-
-
-
3GainND
FNDC5p.E118K
Missense
SNP
0.293
2-ND
FNDC9-
-
-
-
1LossND
FNIP1-
-
-
-
1LossND
FNIP2p.L1059P
Missense
SNP
0.556
2-ND
FOCAD-
-
-
-
1LossND
FOLR2p.D33N
Missense
SNP
0.455
2-ND
FOSB-
-
-
-
1LossND
FOXA3-
-
-
-
1LossND
FOXB2-
-
-
-
3GainND
FOXD1p.P187S
Missense
SNP
0.446
1LossND
FOXD4L4-
-
-
-
3GainND
FOXE1-
-
-
-
3GainND
FOXH1-
-
-
-
4GainND
FOXI1-
-
-
-
1LossND
FOXJ1p.H352Y
Missense
SNP
0.283
2-ND
FOXK1-
-
-
-
3GainND
FOXL2-
-
-
-
3GainND
FOXL2NB-
-
-
-
3GainND
FOXN3p.P95S
Missense
SNP
0.367
2-ND
FOXP1-
-
-
-
1LossND
FOXP2-
-
-
-
3GainND
FOXQ1p.S386*
Nonsense
SNP
0.906
2-ND
FOXR2p.G69E
Missense
SNP
0.794
NDNDND
FPGS-
-
-
-
3GainND
FPGT-TNNI3Kp.P284L
Missense
SNP
0.319
2-ND
FPR1-
-
-
-
1LossND
FPR2-
-
-
-
1LossND
FPR3-
-
-
-
1LossND
FRAS1p.P209L
Missense
SNP
0.493
2-ND
FRAT1p.E20K
Missense
SNP
0.346
2-ND
FREM1-
-
-
-
1LossND
FREM3p.N1381K
Missense
SNP
0.531
2-ND
FRG2Cp.R173Q
Missense
SNP
0.333
1LossND
FRMD3-
-
-
-
3GainND
FRMD4B-
-
-
-
1LossND
FRMPD1-
-
-
-
1LossND
FRMPD3p.G1137E
Missense
SNP
0.804
NDNDND
FRRS1L-
-
-
-
3GainND
FRYp.G989E
Missense
SNP
0.410
2-ND
FSBP-
-
-
-
5AmpND
FSCN1-
-
-
-
3GainND
FSCN3-
-
-
-
3GainND
FSD1-
-
-
-
1LossND
FSD1L-
-
-
-
3GainND
FSHRp.R634C
Missense
SNP
0.530
2-ND
FSIP2p.S5693F
Missense
SNP
0.450
2-ND
FST-
-
-
-
1LossND
FSTL1-
-
-
-
3GainND
FSTL3-
-
-
-
1LossND
FSTL4-
-
-
-
1LossND
FTL-
-
-
-
1LossND
FTMT-
-
-
-
1LossND
FTOp.P427L
Missense
SNP
0.500
2-ND
FUBP3-
-
-
-
3GainND
FUT1-
-
-
-
1LossND
FUT2-
-
-
-
1LossND
FUT3-
-
-
-
1LossND
FUT5-
-
-
-
1LossND
FUT6-
-
-
-
1LossND
FUT7-
-
-
-
3GainND
FUZ-
-
-
-
1LossND
FXN-
-
-
-
3GainND
FXR1-
-
-
-
3GainND
FYBp.P594S
Missense
SNP
0.485
NDNDND
FYCO1-
-
-
-
1LossND
FYTTD1-
-
-
-
3GainND
FZD1-
-
-
-
3GainND
FZD6-
-
-
-
5AmpND
FZD7p.E497K
Missense
SNP
0.476
2-ND
FZD9-
-
-
-
3GainND
FZR1-
-
-
-
1LossND
G0S2p.D88Y
Missense
SNP
0.441
3GainND
G3BP1-
-
-
-
1LossND
GAB3p.N41S
Missense
SNP
0.780
NDNDND
GABBR2-
-
-
-
3GainND
GABPB2-
-
-
-
3GainND
GABRA1-
-
-
-
1LossND
GABRA2p.R112L
Missense
SNP
0.452
2-ND
GABRA5p.E358K
Missense
SNP
0.631
2-ND
GABRA6-
-
-
-
1LossND
GABRB2-
-
-
-
1LossND
GABRG2-
-
-
-
1LossND
GABRPp.E345K
Missense
SNP
0.426
1LossND
GABRQp.R316P
Missense
SNP
0.839
NDNDND
GABRR1-
-
-
-
1LossND
GABRR2-
-
-
-
1LossND
GABRR3-
-
-
-
3GainND
GAD2p.G490E
Missense
SNP
0.410
2-ND
GADD45B-
-
-
-
1LossND
GADD45G-
-
-
-
3GainND
GADL1-
-
-
-
1LossND
GAL3ST4-
-
-
-
3GainND
GALK1p.S140F
Missense
SNP
0.608
2-ND
GALNT1p.E30K
Missense
SNP
0.434
2-ND
GALNT10-
-
-
-
1LossND
GALNT11-
-
-
-
3GainND
GALNT12-
-
-
-
3GainND
GALNT15-
-
-
-
1LossND
GALNT17-
-
-
-
3GainND
GALNT2-
-
-
-
3GainND
GALNTL5-
-
-
-
3GainND
GALR2p.G374S
Missense
SNP
0.637
2-ND
GALT-
-
-
-
1LossND
GAMT-
-
-
-
1LossND
GAP43-
-
-
-
3GainND
GAPT-
-
-
-
1LossND
GAPVD1p.P459S
p.P845S
Missense
Missense
SNP
SNP
0.312
0.942
3GainND
GARNL3p.E925K
Missense
SNP
0.386
3GainND
GARS-
-
-
-
3GainND
GAS1-
-
-
-
3GainND
GAS2p.G135S
Missense
SNP
0.430
2-ND
GATA2-
-
-
-
3GainND
GATAD1-
-
-
-
3GainND
GATAD2A-
-
-
-
1LossND
GATAD2B-
-
-
-
3GainND
GATD3A-
-
-
-
1LossND
GBA-
-
-
-
3GainND
GBA2-
-
-
-
1LossND
GBE1-
-
-
-
1LossND
GBGT1-
-
-
-
3GainND
GBX1-
-
-
-
3GainND
GCC1-
-
-
-
3GainND
GCK-
-
-
-
3GainND
GCKRp.P311L
Missense
SNP
0.486
2-ND
GCN1p.S2142F
Missense
SNP
0.494
2-ND
GCNT1-
-
-
-
3GainND
GCNT3p.L332F
Missense
SNP
0.385
2-ND
GCNT4-
-
-
-
1LossND
GCSAM-
-
-
-
3GainND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GDAp.E52K
Missense
SNP
0.167
3GainND
GDAP1-
-
-
-
5AmpND
GDF1-
-
-
-
1LossND
GDF15-
-
-
-
1LossND
GDF6-
-
-
-
5AmpND
GDF9-
-
-
-
1LossND
GEM-
-
-
-
5AmpND
GEMIN5-
-
-
-
1LossND
GEMIN7-
-
-
-
1LossND
GET4-
-
-
-
3GainND
GFERp.D98N
Missense
SNP
0.417
2-ND
GFI1B-
-
-
-
3GainND
GFM1p.P598T
Missense
SNP
0.618
3GainND
GFM2-
-
-
-
1LossND
GFPT2-
-
-
-
1LossND
GFRA3-
-
-
-
1LossND
GFY-
-
-
-
1LossND
GGCT-
-
-
-
3GainND
GGHp.M48I
Missense
SNP
0.111
5AmpND
GGPS1-
-
-
-
3GainND
GH1p.M196I
Missense
SNP
0.204
2-ND
GHRHR-
-
-
-
3GainND
GHRL-
-
-
-
1LossND
GHSR-
-
-
-
3GainND
GIGYF1p.E701K
Missense
SNP
0.413
3GainND
GIMAP1-
-
-
-
3GainND
GIMAP1-GIMAP5-
-
-
-
3GainND
GIMAP2-
-
-
-
3GainND
GIMAP4-
-
-
-
3GainND
GIMAP5-
-
-
-
3GainND
GIMAP6-
-
-
-
3GainND
GIMAP7-
-
-
-
3GainND
GIMAP8-
-
-
-
3GainND
GIN1-
-
-
-
1LossND
GINS4p.P41S
Missense
SNP
0.466
2-ND
GIPC3-
-
-
-
1LossND
GIPR-
-
-
-
1LossND
GJA10-
-
-
-
1LossND
GJA4p.P319L
Missense
SNP
0.454
2-ND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJC2-
-
-
-
3GainND
GJC3-
-
-
-
3GainND
GK5-
-
-
-
3GainND
GKAP1-
-
-
-
3GainND
GLB1-
-
-
-
1LossND
GLB1L3p.X501_splice
p.E629K
Splice_Site
Missense
SNP
SNP
0.330
0.390
2-ND
GLCCI1-
-
-
-
3GainND
GLDC-
-
-
-
1LossND
GLE1-
-
-
-
3GainND
GLI1p.P1063L
Missense
SNP
0.420
2-ND
GLI3p.S1551F
Missense
SNP
0.401
3GainND
GLI4-
-
-
-
5AmpND
GLIPR2-
-
-
-
1LossND
GLIS3-
-
-
-
1LossND
GLMP-
-
-
-
3GainND
GLOD4p.X278_splice
Splice_Site
SNP
0.165
2-ND
GLRA1-
-
-
-
1LossND
GLRX-
-
-
-
1LossND
GLRX2-
-
-
-
3GainND
GLT6D1-
-
-
-
3GainND
GLT8D1p.R363K
Missense
SNP
0.537
1LossND
GLTSCR1p.P1013S
Missense
SNP
0.275
NDNDND
GLUL-
-
-
-
3GainND
GLYCTK-
-
-
-
1LossND
GM2A-
-
-
-
1LossND
GMCL2-
-
-
-
1LossND
GMEB2p.P368S
Missense
SNP
0.361
2-ND
GMIP-
-
-
-
1LossND
GML-
-
-
-
5AmpND
GMNC-
-
-
-
3GainND
GMPPB-
-
-
-
1LossND
GMPRp.X219_splice
Splice_Site
SNP
0.765
2-ND
GMPR2-
-
-
-
1LossND
GMPS-
-
-
-
3GainND
GNA11-
-
-
-
1LossND
GNA12-
-
-
-
3GainND
GNA14-
-
-
-
3GainND
GNA15-
-
-
-
1LossND
GNAI1-
-
-
-
3GainND
GNAI2-
-
-
-
1LossND
GNAQ-
-
-
-
3GainND
GNASp.E24K
Missense
SNP
0.314
2-ND
GNAT1-
-
-
-
1LossND
GNAT3-
-
-
-
3GainND
GNB1Lp.G255E
Missense
SNP
0.347
2-ND
GNB2-
-
-
-
3GainND
GNB4-
-
-
-
3GainND
GNE-
-
-
-
1LossND
GNG10-
-
-
-
3GainND
GNG11-
-
-
-
3GainND
GNG4-
-
-
-
3GainND
GNG7-
-
-
-
1LossND
GNG8-
-
-
-
1LossND
GNGT1-
-
-
-
3GainND
GNL3-
-
-
-
1LossND
GNPAT-
-
-
-
3GainND
GNPDA1-
-
-
-
1LossND
GOLGA1-
-
-
-
3GainND
GOLGA2-
-
-
-
3GainND
GOLGA4-
-
-
-
1LossND
GOLGB1p.L2319P
Missense
SNP
0.566
3GainND
GOLIM4-
-
-
-
3GainND
GOLM1-
-
-
-
3GainND
GOLPH3L-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GORAB-
-
-
-
3GainND
GORASP1-
-
-
-
1LossND
GP2p.H221L
Missense
SNP
0.365
2-ND
GP5-
-
-
-
3GainND
GP9-
-
-
-
3GainND
GPA33-
-
-
-
3GainND
GPAA1-
-
-
-
5AmpND
GPAT2-
-
-
-
1LossND
GPATCH2-
-
-
-
3GainND
GPATCH4-
-
-
-
3GainND
GPBP1-
-
-
-
1LossND
GPC2-
-
-
-
3GainND
GPC6p.E82K
Missense
SNP
0.260
2-ND
GPCPD1p.S431F
Missense
SNP
0.574
2-ND
GPD1L-
-
-
-
1LossND
GPER1-
-
-
-
3GainND
GPHNp.P196S
Missense
SNP
0.508
2-ND
GPIHBP1-
-
-
-
5AmpND
GPNMB-
-
-
-
3GainND
GPR107-
-
-
-
3GainND
GPR108-
-
-
-
1LossND
GPR137B-
-
-
-
3GainND
GPR141-
-
-
-
3GainND
GPR146-
-
-
-
3GainND
GPR149p.G294E
Missense
SNP
0.215
3GainND
GPR15-
-
-
-
3GainND
GPR150-
-
-
-
1LossND
GPR151-
-
-
-
1LossND
GPR156-
-
-
-
3GainND
GPR160-
-
-
-
3GainND
GPR161-
-
-
-
3GainND
GPR171-
-
-
-
3GainND
GPR176p.S432F
Missense
SNP
0.564
2-ND
GPR179p.P2229Q
Missense
SNP
0.122
2-ND
GPR20-
-
-
-
5AmpND
GPR21-
-
-
-
3GainND
GPR22-
-
-
-
3GainND
GPR25-
-
-
-
3GainND
GPR27-
-
-
-
1LossND
GPR32-
-
-
-
1LossND
GPR37-
-
-
-
3GainND
GPR37L1-
-
-
-
3GainND
GPR4-
-
-
-
1LossND
GPR52-
-
-
-
3GainND
GPR62-
-
-
-
1LossND
GPR85-
-
-
-
3GainND
GPR87-
-
-
-
3GainND
GPR89B-
-
-
-
3GainND
GPRASP1p.D1250E
Missense
SNP
0.745
NDNDND
GPRC5Bp.E390K
Missense
SNP
0.604
2-ND
GPRC5Dp.E307K
Missense
SNP
0.530
2-ND
GPRIN1-
-
-
-
1LossND
GPRIN2p.R380G
Missense
SNP
0.122
2-ND
GPSM1p.P449L
Missense
SNP
0.947
3GainND
GPT-
-
-
-
4GainND
GPX1-
-
-
-
1LossND
GPX3-
-
-
-
1LossND
GPX4-
-
-
-
1LossND
GPX8-
-
-
-
1LossND
GRAMD1Ap.P200L
Missense
SNP
0.470
2-ND
GRAMD1C-
-
-
-
3GainND
GRAMD2B-
-
-
-
1LossND
GRB10-
-
-
-
3GainND
GREB1p.Q669H
Missense
SNP
0.515
2-ND
GREM2p.E51K
Missense
SNP
0.396
3GainND
GRHL1p.S259L
Missense
SNP
0.418
2-ND
GRHL2-
-
-
-
5AmpND
GRHPRp.R99*
Nonsense
SNP
0.771
1LossND
GRIA1-
-
-
-
1LossND
GRID2IP-
-
-
-
3GainND
GRIFIN-
-
-
-
3GainND
GRIK1p.W135*
Nonsense
SNP
0.427
2-ND
GRIK2p.G486E
p.S885L
Missense
Missense
SNP
SNP
0.327
0.425
2-ND
GRIN1-
-
-
-
3GainND
GRIN2Bp.T1358P
Missense
SNP
0.336
2-ND
GRIN2D-
-
-
-
1LossND
GRIN3A-
-
-
-
3GainND
GRIN3B-
-
-
-
1LossND
GRINA-
-
-
-
5AmpND
GRIP2-
-
-
-
1LossND
GRK6-
-
-
-
1LossND
GRK7-
-
-
-
3GainND
GRM2-
-
-
-
1LossND
GRM3-
-
-
-
3GainND
GRM4p.R425C
Missense
SNP
0.862
2-ND
GRM6-
-
-
-
1LossND
GRM7-
-
-
-
1LossND
GRM8p.R343Q
Missense
SNP
0.397
3GainND
GRPEL2-
-
-
-
1LossND
GRWD1-
-
-
-
1LossND
GRXCR2-
-
-
-
1LossND
GSAP-
-
-
-
3GainND
GSDMC-
-
-
-
5AmpND
GSDMD-
-
-
-
5AmpND
GSDME-
-
-
-
3GainND
GSK3B-
-
-
-
3GainND
GSN-
-
-
-
3GainND
GSTK1p.P275L
Missense
SNP
0.921
3GainND
GTF2E1-
-
-
-
3GainND
GTF2F1-
-
-
-
1LossND
GTF2H2-
-
-
-
1LossND
GTF2H2C-
-
-
-
1LossND
GTF2I-
-
-
-
3GainND
GTF2IRD1-
-
-
-
3GainND
GTF2IRD2-
-
-
-
3GainND
GTF2IRD2B-
-
-
-
3GainND
GTF3C4-
-
-
-
3GainND
GTF3C5-
-
-
-
3GainND
GTPBP10-
-
-
-
3GainND
GTPBP8-
-
-
-
3GainND
GUCA1C-
-
-
-
3GainND
GUCY1A2p.D470N
Missense
SNP
0.459
2-ND
GUK1-
-
-
-
3GainND
GUSB-
-
-
-
3GainND
GXYLT2p.D147Y
Missense
SNP
0.495
1LossND
GYG1-
-
-
-
3GainND
GYS1-
-
-
-
1LossND
GYS2p.E36K
Missense
SNP
0.538
2-ND
GZMA-
-
-
-
1LossND
GZMB-
-
-
-
1LossND
GZMH-
-
-
-
1LossND
GZMK-
-
-
-
1LossND
GZMM-
-
-
-
1LossND
H1FOO-
-
-
-
3GainND
H1FXp.P161S
Missense
SNP
0.588
3GainND
H2AFV-
-
-
-
3GainND
H2AFY-
-
-
-
1LossND
H3F3A-
-
-
-
3GainND
HABP4-
-
-
-
3GainND
HACD2-
-
-
-
3GainND
HACD4-
-
-
-
1LossND
HACL1-
-
-
-
1LossND
HAND1-
-
-
-
1LossND
HAPLN1-
-
-
-
1LossND
HAPLN2-
-
-
-
3GainND
HAPLN3p.S91N
Missense
SNP
0.518
2-ND
HAPLN4-
-
-
-
1LossND
HARBI1p.H347Y
Missense
SNP
0.360
2-ND
HARSp.G298S
Missense
SNP
0.393
1LossND
HAS1-
-
-
-
1LossND
HAS2-
-
-
-
5AmpND
HAUS4-
-
-
-
1LossND
HAUS6-
-
-
-
1LossND
HAVCR1-
-
-
-
1LossND
HAVCR2-
-
-
-
1LossND
HAX1-
-
-
-
3GainND
HBEGF-
-
-
-
1LossND
HBP1-
-
-
-
3GainND
HCLS1-
-
-
-
3GainND
HCN1p.S599L
p.S56F
Missense
Missense
SNP
SNP
0.436
0.407
2-ND
HCN2-
-
-
-
1LossND
HCN3-
-
-
-
3GainND
HDAC1p.G219D
Missense
SNP
0.575
2-ND
HDAC11-
-
-
-
1LossND
HDAC3-
-
-
-
1LossND
HDAC4p.A245T
Missense
SNP
0.453
2-ND
HDAC5p.P228L
Missense
SNP
0.520
2-ND
HDAC9-
-
-
-
3GainND
HDGF-
-
-
-
3GainND
HDGFL2-
-
-
-
1LossND
HDHD3-
-
-
-
3GainND
HEATR1-
-
-
-
3GainND
HEATR4p.E679K
Missense
SNP
0.406
2-ND
HEATR9p.D251N
Missense
SNP
0.547
2-ND
HECTD1p.P2216T
Missense
SNP
0.434
2-ND
HECW1-
-
-
-
3GainND
HEG1-
-
-
-
3GainND
HELZp.R295C
Missense
SNP
0.537
2-ND
HEMGN-
-
-
-
3GainND
HEMK1-
-
-
-
1LossND
HEPACAM2-
-
-
-
3GainND
HEPHp.G97R
Missense
SNP
0.782
NDNDND
HEPHL1p.W866*
Nonsense
SNP
0.444
2-ND
HERPUD2-
-
-
-
3GainND
HES1-
-
-
-
3GainND
HESX1-
-
-
-
1LossND
HEXB-
-
-
-
1LossND
HEY1-
-
-
-
5AmpND
HFM1p.P839T
Missense
SNP
0.561
2-ND
HGD-
-
-
-
3GainND
HGF-
-
-
-
3GainND
HGH1-
-
-
-
5AmpND
HHAT-
-
-
-
3GainND
HHATL-
-
-
-
1LossND
HHIPL2-
-
-
-
3GainND
HHLA1-
-
-
-
5AmpND
HHLA2p.G203R
Missense
SNP
0.661
3GainND
HIBADH-
-
-
-
3GainND
HIF3A-
-
-
-
1LossND
HIGD2A-
-
-
-
1LossND
HILPDA-
-
-
-
3GainND
HINT1-
-
-
-
1LossND
HINT2-
-
-
-
1LossND
HIP1-
-
-
-
3GainND
HIPK2-
-
-
-
3GainND
HIST2H2AA3-
-
-
-
3GainND
HIST2H2AA4-
-
-
-
3GainND
HIST2H2ABp.P81L
Missense
SNP
0.455
3GainND
HIST2H2AC-
-
-
-
3GainND
HIST2H2BE-
-
-
-
3GainND
HIST2H2BF-
-
-
-
3GainND
HIST2H3A-
-
-
-
3GainND
HIST2H3C-
-
-
-
3GainND
HIST2H3D-
-
-
-
3GainND
HIST2H4A-
-
-
-
3GainND
HIST2H4B-
-
-
-
3GainND
HIST3H2A-
-
-
-
3GainND
HIST3H2BB-
-
-
-
3GainND
HIST3H3-
-
-
-
3GainND
HIVEP3p.P17L
Missense
SNP
0.381
2-ND
HK3-
-
-
-
1LossND
HLTF-
-
-
-
3GainND
HLX-
-
-
-
3GainND
HMCES-
-
-
-
3GainND
HMCN1-
-
-
-
3GainND
HMCN2-
-
-
-
3GainND
HMG20B-
-
-
-
1LossND
HMGCR-
-
-
-
1LossND
HMGXB3-
-
-
-
1LossND
HMHB1-
-
-
-
1LossND
HMMR-
-
-
-
1LossND
HNF4G-
-
-
-
5AmpND
HNRNPA0-
-
-
-
1LossND
HNRNPA2B1-
-
-
-
3GainND
HNRNPAB-
-
-
-
1LossND
HNRNPCp.P116L
Missense
SNP
0.379
1LossND
HNRNPH1-
-
-
-
1LossND
HNRNPKp.P354L
Missense
SNP
0.448
3GainND
HNRNPM-
-
-
-
1LossND
HNRNPU-
-
-
-
3GainND
HOMER1-
-
-
-
1LossND
HOMER2p.S216F
Missense
SNP
0.376
2-ND
HOMER3-
-
-
-
1LossND
HOMEZ-
-
-
-
1LossND
HORMAD1-
-
-
-
3GainND
HOXA1-
-
-
-
3GainND
HOXA10-
-
-
-
3GainND
HOXA11-
-
-
-
3GainND
HOXA13-
-
-
-
3GainND
HOXA2-
-
-
-
3GainND
HOXA3-
-
-
-
3GainND
HOXA4-
-
-
-
3GainND
HOXA5-
-
-
-
3GainND
HOXA6-
-
-
-
3GainND
HOXA7-
-
-
-
3GainND
HOXA9-
-
-
-
3GainND
HOXB2p.V294D
Missense
SNP
0.105
2-ND
HOXD8p.P262S
Missense
SNP
0.559
2-ND
HPS3-
-
-
-
3GainND
HRASLS-
-
-
-
3GainND
HRC-
-
-
-
1LossND
HRCT1-
-
-
-
1LossND
HRG-
-
-
-
3GainND
HRH1-
-
-
-
1LossND
HRH2-
-
-
-
1LossND
HRNR-
-
-
-
3GainND
HS3ST5p.E167*
Nonsense
SNP
0.485
2-ND
HSD11B1-
-
-
-
3GainND
HSD11B1L-
-
-
-
1LossND
HSD17B13p.P180S
Missense
SNP
0.381
2-ND
HSD17B14-
-
-
-
1LossND
HSD17B3-
-
-
-
3GainND
HSD17B4-
-
-
-
1LossND
HSD17B7-
-
-
-
3GainND
HSD3B2p.E142K
Missense
SNP
0.589
2-ND
HSDL2-
-
-
-
3GainND
HSF1-
-
-
-
4GainND
HSF5p.P15S
Missense
SNP
0.490
2-ND
HSPA4-
-
-
-
1LossND
HSPA5-
-
-
-
3GainND
HSPA6-
-
-
-
3GainND
HSPA9-
-
-
-
1LossND
HSPB1-
-
-
-
3GainND
HSPB3-
-
-
-
1LossND
HSPBAP1-
-
-
-
3GainND
HSPG2p.T3290I
p.S2544F
p.G1905D
Missense
Missense
Missense
SNP
SNP
SNP
0.407
0.226
0.337
2-ND
HTD2-
-
-
-
1LossND
HTR1A-
-
-
-
1LossND
HTR1F-
-
-
-
1LossND
HTR3C-
-
-
-
3GainND
HTR3D-
-
-
-
3GainND
HTR3E-
-
-
-
3GainND
HTR4-
-
-
-
1LossND
HTR5A-
-
-
-
3GainND
HTRA2-
-
-
-
1LossND
HTTp.P2531L
Missense
SNP
0.456
2-ND
HUS1-
-
-
-
3GainND
HUWE1p.D2630N
Missense
SNP
0.772
NDNDND
HYAL1-
-
-
-
1LossND
HYAL2-
-
-
-
1LossND
HYAL3-
-
-
-
1LossND
HYAL4-
-
-
-
3GainND
HYDINp.E4112K
p.E2544K
Missense
Missense
SNP
SNP
0.382
0.519
2-ND
HYOU1p.A225V
Missense
SNP
0.379
2-ND
IARS-
-
-
-
3GainND
IARS2-
-
-
-
3GainND
IBA57-
-
-
-
3GainND
IBTKp.S422*
p.T154I
Nonsense
Missense
SNP
SNP
0.528
0.496
2-ND
ICA1-
-
-
-
3GainND
ICAM5p.P756S
Missense
SNP
0.419
2-ND
IDNK-
-
-
-
3GainND
IER5-
-
-
-
3GainND
IER5L-
-
-
-
3GainND
IFI16-
-
-
-
3GainND
IFNA1-
-
-
-
1LossND
IFNA10-
-
-
-
1LossND
IFNA13-
-
-
-
1LossND
IFNA14-
-
-
-
1LossND
IFNA16-
-
-
-
1LossND
IFNA17-
-
-
-
1LossND
IFNA2-
-
-
-
1LossND
IFNA21-
-
-
-
1LossND
IFNA4-
-
-
-
1LossND
IFNA5-
-
-
-
1LossND
IFNA6-
-
-
-
1LossND
IFNA7-
-
-
-
1LossND
IFNA8-
-
-
-
1LossND
IFNB1-
-
-
-
1LossND
IFNE-
-
-
-
1LossND
IFNK-
-
-
-
1LossND
IFNW1-
-
-
-
1LossND
IFRD1-
-
-
-
3GainND
IFRD2-
-
-
-
1LossND
IFT122-
-
-
-
3GainND
IFT140p.S986F
Missense
SNP
0.314
2-ND
IFT22-
-
-
-
3GainND
IFT57-
-
-
-
3GainND
IFT74-
-
-
-
1LossND
IFT80-
-
-
-
3GainND
IFT81p.R87C
Missense
SNP
0.428
2-ND
IGDCC3p.G700E
Missense
SNP
0.331
2-ND
IGF2BP2-
-
-
-
3GainND
IGF2BP3-
-
-
-
3GainND
IGF2Rp.S304F
p.P2198L
Missense
Missense
SNP
SNP
0.301
0.301
2-ND
IGFBP1-
-
-
-
3GainND
IGFBP3-
-
-
-
3GainND
IGFBPL1-
-
-
-
1LossND
IGFL1-
-
-
-
1LossND
IGFL2-
-
-
-
1LossND
IGFL3-
-
-
-
1LossND
IGFL4-
-
-
-
1LossND
IGFN1-
-
-
-
3GainND
IGHV3-20p.W72*
Nonsense
SNP
0.744
NDNDND
IGHV3-49p.E2K
Missense
SNP
0.384
NDNDND
IGHV3-66p.R57C
Missense
SNP
0.075
NDNDND
IGIP-
-
-
-
1LossND
IGLON5-
-
-
-
1LossND
IGLV3-27p.P33S
Missense
SNP
0.478
NDNDND
IGSF1p.P1248S
p.D941N
Missense
Missense
SNP
SNP
0.760
0.850
NDNDND
IGSF10-
-
-
-
3GainND
IGSF11-
-
-
-
3GainND
IGSF6-
-
-
-
1LossND
IGSF8-
-
-
-
3GainND
IGSF9-
-
-
-
3GainND
IK-
-
-
-
1LossND
IKBKE-
-
-
-
3GainND
IKZF1-
-
-
-
3GainND
IKZF3p.S378F
Missense
SNP
0.667
2-ND
IL10-
-
-
-
3GainND
IL11RAp.P247S
Missense
SNP
0.766
1LossND
IL12A-
-
-
-
3GainND
IL12B-
-
-
-
1LossND
IL13-
-
-
-
1LossND
IL17B-
-
-
-
1LossND
IL17RB-
-
-
-
1LossND
IL17RC-
-
-
-
1LossND
IL17RD-
-
-
-
1LossND
IL17REp.P572L
Missense
SNP
0.471
1LossND
IL19-
-
-
-
3GainND
IL1RAP-
-
-
-
3GainND
IL20-
-
-
-
3GainND
IL20RB-
-
-
-
3GainND
IL24-
-
-
-
3GainND
IL25-
-
-
-
1LossND
IL2RAp.Q118*
Nonsense
SNP
0.328
2-ND
IL2RGp.G339E
Missense
SNP
0.800
NDNDND
IL3-
-
-
-
1LossND
IL31RA-
-
-
-
1LossND
IL33-
-
-
-
1LossND
IL36Bp.S28F
Missense
SNP
0.563
2-ND
IL4-
-
-
-
1LossND
IL4I1-
-
-
-
1LossND
IL5-
-
-
-
1LossND
IL5RA-
-
-
-
1LossND
IL6-
-
-
-
3GainND
IL6R-
-
-
-
3GainND
IL6ST-
-
-
-
1LossND
IL7-
-
-
-
5AmpND
IL9-
-
-
-
1LossND
ILDR1-
-
-
-
3GainND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
IMMP2L-
-
-
-
3GainND
IMPA1-
-
-
-
5AmpND
IMPAD1-
-
-
-
5AmpND
IMPDH1-
-
-
-
3GainND
IMPDH2-
-
-
-
1LossND
IMPG2-
-
-
-
3GainND
INAFM1-
-
-
-
1LossND
INAVA-
-
-
-
3GainND
ING3-
-
-
-
3GainND
INHBAp.S389L
Missense
SNP
0.378
3GainND
INIP-
-
-
-
3GainND
INKA1-
-
-
-
1LossND
INMT-
-
-
-
3GainND
INMT-MINDY4-
-
-
-
3GainND
INO80B-
-
-
-
1LossND
INO80B-WBP1-
-
-
-
1LossND
INPP5Ep.H126Y
Missense
SNP
0.472
3GainND
INPPL1p.S1229N
Missense
SNP
0.413
2-ND
INSIG1-
-
-
-
3GainND
INSL4-
-
-
-
1LossND
INSL6-
-
-
-
1LossND
INSM2p.G63R
Missense
SNP
0.449
2-ND
INSR-
-
-
-
1LossND
INSRR-
-
-
-
3GainND
INSYN2B-
-
-
-
1LossND
INTS1-
-
-
-
3GainND
INTS3-
-
-
-
3GainND
INTS7-
-
-
-
3GainND
INTS8-
-
-
-
5AmpND
INVS-
-
-
-
3GainND
IP6K1-
-
-
-
1LossND
IP6K2-
-
-
-
1LossND
IPO11-
-
-
-
1LossND
IPO13p.S462F
Missense
SNP
0.283
2-ND
IPO4-
-
-
-
1LossND
IPO9-
-
-
-
3GainND
IPPK-
-
-
-
3GainND
IQANK1-
-
-
-
5AmpND
IQCB1-
-
-
-
3GainND
IQCE-
-
-
-
3GainND
IQCF1-
-
-
-
1LossND
IQCF2-
-
-
-
1LossND
IQCF3-
-
-
-
1LossND
IQCF5-
-
-
-
1LossND
IQCF6-
-
-
-
1LossND
IQCG-
-
-
-
3GainND
IQCJ-
-
-
-
3GainND
IQCJ-SCHIP1-
-
-
-
3GainND
IQGAP2-
-
-
-
1LossND
IQGAP3-
-
-
-
3GainND
IQSEC1-
-
-
-
1LossND
IQUBp.P781L
p.S614F
Missense
Missense
SNP
SNP
0.538
0.305
3GainND
IRAK2-
-
-
-
1LossND
IRF1-
-
-
-
1LossND
IRF2BP1-
-
-
-
1LossND
IRF2BP2-
-
-
-
3GainND
IRF3-
-
-
-
1LossND
IRF5-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
IRF9-
-
-
-
1LossND
IRGM-
-
-
-
1LossND
IRGQp.P548L
Missense
SNP
0.442
2-ND
IRS1p.G298E
Missense
SNP
0.364
2-ND
ISCA1-
-
-
-
3GainND
ISG20L2-
-
-
-
3GainND
ISL1-
-
-
-
1LossND
ISOC1-
-
-
-
1LossND
ISPD-
-
-
-
3GainND
ISY1-
-
-
-
3GainND
ISY1-RAB43-
-
-
-
3GainND
ISYNA1p.E232K
Missense
SNP
0.411
1LossND
ITFG1p.P144A
Missense
SNP
0.143
2-ND
ITGA1-
-
-
-
1LossND
ITGA10p.Q540*
p.P412S
Nonsense
Missense
SNP
SNP
0.412
0.329
2-ND
ITGA2-
-
-
-
1LossND
ITGA2Bp.S789F
p.G277E
Missense
Missense
SNP
SNP
0.194
0.607
2-ND
ITGA4p.W148*
Nonsense
SNP
0.371
2-ND
ITGA9-
-
-
-
1LossND
ITGADp.D310N
Missense
SNP
0.316
2-ND
ITGALp.X241_splice
Splice_Site
SNP
0.280
2-ND
ITGB3p.E78D
Missense
SNP
0.177
2-ND
ITGB5p.F190L
Missense
SNP
0.119
3GainND
ITGB8-
-
-
-
3GainND
ITIH1p.S363F
Missense
SNP
0.248
1LossND
ITIH3-
-
-
-
1LossND
ITIH4-
-
-
-
1LossND
ITIH5p.G216R
Missense
SNP
0.550
2-ND
ITIH6p.R421K
Missense
SNP
0.755
NDNDND
ITK-
-
-
-
1LossND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITPKB-
-
-
-
3GainND
ITPR1-
-
-
-
1LossND
ITPR2p.P338L
Missense
SNP
0.503
2-ND
ITPRID1-
-
-
-
3GainND
ITPRIPp.P130S
Missense
SNP
0.435
2-ND
ITPRIPL1p.G111E
Missense
SNP
0.357
2-ND
ITSN2p.R1659*
p.P1108S
Nonsense
Missense
SNP
SNP
0.544
0.397
2-ND
IVL-
-
-
-
3GainND
IVNS1ABP-
-
-
-
3GainND
IZUMO1-
-
-
-
1LossND
IZUMO2-
-
-
-
1LossND
IZUMO3-
-
-
-
1LossND
IZUMO4-
-
-
-
1LossND
JADE2-
-
-
-
1LossND
JAGN1-
-
-
-
1LossND
JAK1p.D1039N
Missense
SNP
0.341
2-ND
JAK2-
-
-
-
1LossND
JAKMIP2-
-
-
-
1LossND
JAMLp.G210R
Missense
SNP
0.464
2-ND
JAZF1-
-
-
-
3GainND
JMJD4-
-
-
-
3GainND
JMJD8p.E222D
Missense
SNP
0.139
2-ND
JMY-
-
-
-
1LossND
JOSD2-
-
-
-
1LossND
JPH1p.D389N
Missense
SNP
0.153
5AmpND
JPH3p.R216W
Missense
SNP
0.488
2-ND
JPH4-
-
-
-
1LossND
JRK-
-
-
-
5AmpND
JSRP1-
-
-
-
1LossND
JTB-
-
-
-
3GainND
JUND-
-
-
-
1LossND
KALRNp.P713L
Missense
SNP
0.342
3GainND
KANK1-
-
-
-
1LossND
KANK3-
-
-
-
1LossND
KAT2B-
-
-
-
1LossND
KBTBD12-
-
-
-
3GainND
KBTBD2-
-
-
-
3GainND
KBTBD8-
-
-
-
1LossND
KCNA4p.A341T
Missense
SNP
0.415
2-ND
KCNA5p.A566T
Missense
SNP
0.533
2-ND
KCNA6p.F28L
p.E129*
Missense
Nonsense
SNP
SNP
0.481
0.246
2-ND
KCNA7-
-
-
-
1LossND
KCNAB1-
-
-
-
3GainND
KCNB2-
-
-
-
5AmpND
KCNC3-
-
-
-
1LossND
KCND2-
-
-
-
3GainND
KCNG4p.S408F
Missense
SNP
0.338
2-ND
KCNH1-
-
-
-
3GainND
KCNH2p.R541C
Missense
SNP
0.528
3GainND
KCNH6p.T465K
Missense
SNP
0.172
2-ND
KCNH8p.E780K
Missense
SNP
0.552
1LossND
KCNIP1p.G38E
Missense
SNP
0.424
1LossND
KCNIP3p.F88L
Missense
SNP
0.497
2-ND
KCNJ10-
-
-
-
3GainND
KCNJ14-
-
-
-
1LossND
KCNJ8p.G417E
Missense
SNP
0.381
2-ND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK15p.P265S
Missense
SNP
0.496
2-ND
KCNK18p.E305K
Missense
SNP
0.486
2-ND
KCNK2-
-
-
-
3GainND
KCNK9-
-
-
-
5AmpND
KCNMB1-
-
-
-
1LossND
KCNMB2-
-
-
-
3GainND
KCNMB3-
-
-
-
3GainND
KCNMB4p.D139N
Missense
SNP
0.495
2-ND
KCNN2-
-
-
-
1LossND
KCNN3-
-
-
-
3GainND
KCNQ1p.R583C
Missense
SNP
0.451
2-ND
KCNQ3p.E414K
Missense
SNP
0.305
5AmpND
KCNS2.
Splice_Site
SNP
0.223
5AmpND
KCNT1-
-
-
-
3GainND
KCNT2p.D757N
p.G731R
p.G89E
Missense
Missense
Missense
SNP
SNP
SNP
0.429
0.549
0.470
3GainND
KCNV1-
-
-
-
5AmpND
KCNV2-
-
-
-
1LossND
KCPp.P589L
Missense
SNP
0.425
3GainND
KCTD16-
-
-
-
1LossND
KCTD3-
-
-
-
3GainND
KCTD4p.D56N
Missense
SNP
0.311
2-ND
KCTD6-
-
-
-
1LossND
KCTD7-
-
-
-
3GainND
KDELR1-
-
-
-
1LossND
KDELR2-
-
-
-
3GainND
KDF1p.E238K
Missense
SNP
0.455
2-ND
KDM3B-
-
-
-
1LossND
KDM4B-
-
-
-
1LossND
KDM4C-
-
-
-
1LossND
KDM5Bp.P905L
Missense
SNP
0.423
3GainND
KDM5Cp.P701S
Missense
SNP
0.791
NDNDND
KDM7A-
-
-
-
3GainND
KDRp.P149L
Missense
SNP
0.372
2-ND
KEAP1p.R354Q
Missense
SNP
0.190
2-ND
KEL-
-
-
-
3GainND
KHDC4-
-
-
-
3GainND
KHDRBS3-
-
-
-
5AmpND
KHNYN-
-
-
-
1LossND
KHSRP-
-
-
-
1LossND
KIAA0825-
-
-
-
1LossND
KIAA0895p.D420N
Missense
SNP
0.358
3GainND
KIAA1024p.P377L
Missense
SNP
0.578
2-ND
KIAA1024L-
-
-
-
1LossND
KIAA1109p.P1848S
Missense
SNP
0.440
2-ND
KIAA1143-
-
-
-
1LossND
KIAA1147-
-
-
-
3GainND
KIAA1191-
-
-
-
1LossND
KIAA1217p.R88Q
p.T815I
Missense
Missense
SNP
SNP
0.390
0.490
2-ND
KIAA1257-
-
-
-
3GainND
KIAA1324L-
-
-
-
3GainND
KIAA1429p.P1667S
Missense
SNP
0.150
NDNDND
KIAA1549p.F1114S
Missense
SNP
0.912
3GainND
KIAA1614p.W327*
Nonsense
SNP
0.516
3GainND
KIAA1683p.A521T
Missense
SNP
0.336
NDNDND
KIAA1958-
-
-
-
3GainND
KIAA2026-
-
-
-
1LossND
KIF12-
-
-
-
3GainND
KIF14-
-
-
-
3GainND
KIF15-
-
-
-
1LossND
KIF20A-
-
-
-
1LossND
KIF21Bp.A904V
Missense
SNP
0.457
3GainND
KIF24-
-
-
-
1LossND
KIF26Ap.P1177L
Missense
SNP
0.474
2-ND
KIF26B-
-
-
-
3GainND
KIF27-
-
-
-
3GainND
KIF2A-
-
-
-
1LossND
KIF2Bp.S104L
Missense
SNP
0.260
2-ND
KIF3A-
-
-
-
1LossND
KIF4B-
-
-
-
1LossND
KIF9-
-
-
-
1LossND
KIFAP3-
-
-
-
3GainND
KIFC2-
-
-
-
4GainND
KIR2DL1p.D78N
Missense
SNP
0.252
1LossND
KIR2DL3-
-
-
-
1LossND
KIR2DL4-
-
-
-
1LossND
KIR3DL2p.D387N
Missense
SNP
0.390
2-ND
KIR3DL3-
-
-
-
1LossND
KIRREL1-
-
-
-
3GainND
KIRREL2p.D68N
Missense
SNP
0.597
2-ND
KISS1-
-
-
-
3GainND
KISS1R-
-
-
-
1LossND
KLC3-
-
-
-
1LossND
KLF10-
-
-
-
5AmpND
KLF14-
-
-
-
3GainND
KLF15-
-
-
-
3GainND
KLF16-
-
-
-
1LossND
KLF4-
-
-
-
3GainND
KLF7p.K299E
p.E46K
Missense
Missense
SNP
SNP
0.445
0.378
2-ND
KLF9-
-
-
-
3GainND
KLHDC10-
-
-
-
3GainND
KLHDC7Ap.W612*
Nonsense
SNP
0.337
2-ND
KLHDC8Ap.M312I
p.P45S
Missense
Missense
SNP
SNP
0.507
0.461
3GainND
KLHDC8Bp.E310K
Missense
SNP
0.246
1LossND
KLHDC9-
-
-
-
3GainND
KLHL11p.W534*
Nonsense
SNP
0.227
2-ND
KLHL12-
-
-
-
3GainND
KLHL18p.S285F
Missense
SNP
0.323
1LossND
KLHL2p.D555N
Missense
SNP
0.319
2-ND
KLHL20-
-
-
-
3GainND
KLHL24-
-
-
-
3GainND
KLHL25p.L22F
Missense
SNP
0.432
2-ND
KLHL26-
-
-
-
1LossND
KLHL29p.K802Rfs*19
Frame_Shift_Ins
INS
0.213
2-ND
KLHL3-
-
-
-
1LossND
KLHL33-
-
-
-
1LossND
KLHL38-
-
-
-
5AmpND
KLHL40-
-
-
-
1LossND
KLHL6-
-
-
-
3GainND
KLHL7-
-
-
-
3GainND
KLHL9-
-
-
-
1LossND
KLK1-
-
-
-
1LossND
KLK10-
-
-
-
1LossND
KLK11-
-
-
-
1LossND
KLK12-
-
-
-
1LossND
KLK13-
-
-
-
1LossND
KLK14-
-
-
-
1LossND
KLK15-
-
-
-
1LossND
KLK2-
-
-
-
1LossND
KLK3-
-
-
-
1LossND
KLK4p.W8*
Nonsense
SNP
0.423
1LossND
KLK5-
-
-
-
1LossND
KLK6-
-
-
-
1LossND
KLK7-
-
-
-
1LossND
KLK8-
-
-
-
1LossND
KLK9-
-
-
-
1LossND
KLRG2-
-
-
-
3GainND
KMO-
-
-
-
3GainND
KMT2C-
-
-
-
3GainND
KMT2Dp.P4082F
p.P3139L
p.Q429*
Missense
Missense
Nonsense
MNP
SNP
SNP
0.519
0.366
0.465
2-ND
KMT2E-
-
-
-
3GainND
KNG1-
-
-
-
3GainND
KPNA1-
-
-
-
3GainND
KPNA4-
-
-
-
3GainND
KPNA7-
-
-
-
3GainND
KPRP-
-
-
-
3GainND
KPTN-
-
-
-
1LossND
KRBA1-
-
-
-
3GainND
KRBOX1-
-
-
-
1LossND
KRIT1-
-
-
-
3GainND
KRT1p.S338F
Missense
SNP
0.451
2-ND
KRT25p.G55R
Missense
SNP
0.199
2-ND
KRT3p.A449T
Missense
SNP
0.416
2-ND
KRT36p.E308K
Missense
SNP
0.602
2-ND
KRTAP10-1-
-
-
-
1LossND
KRTAP10-10-
-
-
-
1LossND
KRTAP10-11-
-
-
-
1LossND
KRTAP10-12p.S241Y
Missense
SNP
0.426
2-ND
KRTAP10-2-
-
-
-
1LossND
KRTAP10-3-
-
-
-
1LossND
KRTAP10-4-
-
-
-
1LossND
KRTAP10-5-
-
-
-
1LossND
KRTAP10-6-
-
-
-
1LossND
KRTAP10-7-
-
-
-
1LossND
KRTAP10-8-
-
-
-
1LossND
KRTAP10-9-
-
-
-
1LossND
KRTAP12-4-
-
-
-
1LossND
KRTAP13-3p.G16E
Missense
SNP
0.514
2-ND
KRTAP16-1p.T21A
Missense
SNP
0.620
2-ND
KRTAP19-7p.G20S
Missense
SNP
0.418
2-ND
KRTAP26-1p.L98F
Missense
SNP
0.475
2-ND
KRTAP4-5p.R32K
Missense
SNP
0.573
2-ND
KRTAP4-6p.R76K
Missense
SNP
0.587
2-ND
KRTCAP2-
-
-
-
3GainND
KXD1-
-
-
-
1LossND
KY-
-
-
-
3GainND
KYAT1-
-
-
-
3GainND
L3MBTL1p.G111E
Missense
SNP
0.381
2-ND
LACTB2-
-
-
-
5AmpND
LAD1-
-
-
-
3GainND
LAIR1p.Q17K
Missense
SNP
0.140
1LossND
LAIR2-
-
-
-
1LossND
LAMA1p.G1589R
Missense
SNP
0.413
2-ND
LAMA4p.S989F
p.E873K
Missense
Missense
SNP
SNP
0.395
0.262
2-ND
LAMA5p.A2729T
p.E1773D
p.P1458S
Missense
Missense
Missense
SNP
SNP
SNP
0.299
0.434
0.398
2-ND
LAMB1-
-
-
-
3GainND
LAMB2-
-
-
-
1LossND
LAMB3-
-
-
-
3GainND
LAMB4-
-
-
-
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMC3p.P181L
p.P676L
p.A964T
Missense
Missense
Missense
SNP
SNP
SNP
0.343
0.398
0.915
3GainND
LAMP3-
-
-
-
3GainND
LAMTOR2-
-
-
-
3GainND
LAMTOR4-
-
-
-
3GainND
LANCL2-
-
-
-
3GainND
LAPTM4B-
-
-
-
5AmpND
LARP1-
-
-
-
1LossND
LARP1Bp.R739C
Missense
SNP
0.667
2-ND
LARS-
-
-
-
1LossND
LARS2-
-
-
-
1LossND
LAT2-
-
-
-
3GainND
LAX1-
-
-
-
3GainND
LBPp.M362I
Missense
SNP
0.307
2-ND
LBR-
-
-
-
3GainND
LBX2-
-
-
-
1LossND
LCE1A-
-
-
-
3GainND
LCE1B-
-
-
-
3GainND
LCE1C-
-
-
-
3GainND
LCE1D-
-
-
-
3GainND
LCE1E-
-
-
-
3GainND
LCE1Fp.G50N
Missense
MNP
0.444
3GainND
LCE2A-
-
-
-
3GainND
LCE2B-
-
-
-
3GainND
LCE2C-
-
-
-
3GainND
LCE2D-
-
-
-
3GainND
LCE3A-
-
-
-
3GainND
LCE3C-
-
-
-
3GainND
LCE3D-
-
-
-
3GainND
LCE3E-
-
-
-
3GainND
LCE4A-
-
-
-
3GainND
LCE5A-
-
-
-
3GainND
LCE6Ap.R55K
Missense
SNP
0.346
3GainND
LCN1-
-
-
-
3GainND
LCN10-
-
-
-
3GainND
LCN12-
-
-
-
3GainND
LCN15-
-
-
-
3GainND
LCN2-
-
-
-
3GainND
LCN6-
-
-
-
3GainND
LCN8-
-
-
-
3GainND
LCN9-
-
-
-
3GainND
LCNL1-
-
-
-
3GainND
LCP2-
-
-
-
1LossND
LDB3p.G14S
Missense
SNP
0.362
2-ND
LEAP2-
-
-
-
1LossND
LECT2-
-
-
-
1LossND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LEKR1-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1-
-
-
-
3GainND
LENEP-
-
-
-
3GainND
LENG1-
-
-
-
1LossND
LENG8-
-
-
-
1LossND
LENG9-
-
-
-
1LossND
LEP-
-
-
-
3GainND
LFNG-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGR6-
-
-
-
3GainND
LHB-
-
-
-
1LossND
LHFPL2-
-
-
-
1LossND
LHFPL3-
-
-
-
3GainND
LHFPL4-
-
-
-
1LossND
LHX2-
-
-
-
3GainND
LHX3-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX6-
-
-
-
3GainND
LHX9-
-
-
-
3GainND
LIG1-
-
-
-
1LossND
LILRA1-
-
-
-
1LossND
LILRA2p.K78N
Missense
SNP
0.559
1LossND
LILRA4-
-
-
-
1LossND
LILRA5-
-
-
-
1LossND
LILRA6-
-
-
-
1LossND
LILRB1-
-
-
-
1LossND
LILRB2-
-
-
-
1LossND
LILRB3-
-
-
-
1LossND
LILRB4-
-
-
-
1LossND
LILRB5-
-
-
-
1LossND
LIM2-
-
-
-
1LossND
LIMD1-
-
-
-
1LossND
LIMK1-
-
-
-
3GainND
LIMK2p.S510F
Missense
SNP
0.255
2-ND
LIN7B-
-
-
-
1LossND
LIN9-
-
-
-
3GainND
LINGO1p.A282V
Missense
SNP
0.511
2-ND
LINGO2-
-
-
-
1LossND
LINGO3-
-
-
-
1LossND
LINGO4p.G78R
Missense
SNP
0.372
3GainND
LIPH-
-
-
-
3GainND
LIX1-
-
-
-
1LossND
LLCFC1-
-
-
-
3GainND
LLGL2p.E360K
Missense
SNP
0.570
2-ND
LMAN2-
-
-
-
1LossND
LMBR1-
-
-
-
3GainND
LMCD1-
-
-
-
1LossND
LMLN-
-
-
-
3GainND
LMLN2-
-
-
-
1LossND
LMNA-
-
-
-
3GainND
LMNB1-
-
-
-
1LossND
LMNB2-
-
-
-
1LossND
LMOD1-
-
-
-
3GainND
LMOD2-
-
-
-
3GainND
LMOD3-
-
-
-
1LossND
LMTK2-
-
-
-
3GainND
LMTK3p.G1331S
Missense
SNP
0.457
1LossND
LMX1A-
-
-
-
3GainND
LMX1B-
-
-
-
3GainND
LNP1-
-
-
-
3GainND
LNPEP-
-
-
-
1LossND
LONP1p.G446N
Missense
MNP
0.298
1LossND
LOR-
-
-
-
3GainND
LOX-
-
-
-
1LossND
LOXL3-
-
-
-
1LossND
LPAR1-
-
-
-
3GainND
LPAR2-
-
-
-
1LossND
LPGAT1-
-
-
-
3GainND
LPIN1p.S552F
Missense
SNP
0.283
2-ND
LPP-
-
-
-
3GainND
LRCH3-
-
-
-
3GainND
LRCH4-
-
-
-
3GainND
LRFN2p.S758F
Missense
SNP
0.331
2-ND
LRFN4p.E241K
Missense
SNP
0.376
2-ND
LRFN5p.S665F
Missense
SNP
0.431
2-ND
LRG1p.R312C
Missense
SNP
0.598
1LossND
LRGUK-
-
-
-
3GainND
LRIG1-
-
-
-
1LossND
LRP1p.D2270N
Missense
SNP
0.414
2-ND
LRP10-
-
-
-
1LossND
LRP12-
-
-
-
5AmpND
LRP1Bp.G2473R
Missense
SNP
0.341
2-ND
LRP2p.R2095Q
Missense
SNP
0.470
2-ND
LRP5p.S1487F
Missense
SNP
0.387
2-ND
LRR1p.S378F
Missense
SNP
0.456
2-ND
LRRC10p.E168K
Missense
SNP
0.449
2-ND
LRRC14-
-
-
-
4GainND
LRRC15-
-
-
-
3GainND
LRRC17-
-
-
-
3GainND
LRRC19-
-
-
-
1LossND
LRRC2-
-
-
-
1LossND
LRRC24-
-
-
-
4GainND
LRRC25-
-
-
-
1LossND
LRRC26p.S5Y
Missense
SNP
0.194
3GainND
LRRC31-
-
-
-
3GainND
LRRC34-
-
-
-
3GainND
LRRC36p.L529F
p.A567T
Missense
Missense
SNP
SNP
0.283
0.425
2-ND
LRRC3B-
-
-
-
1LossND
LRRC4-
-
-
-
3GainND
LRRC4B-
-
-
-
1LossND
LRRC4Cp.S631Y
Missense
SNP
0.391
2-ND
LRRC52-
-
-
-
3GainND
LRRC53p.G688E
Missense
SNP
0.324
2-ND
LRRC58-
-
-
-
3GainND
LRRC6-
-
-
-
5AmpND
LRRC61-
-
-
-
3GainND
LRRC69p.G293R
Missense
SNP
0.245
5AmpND
LRRC7p.K115N
p.G1469E
Missense
Missense
SNP
SNP
0.271
0.472
2-ND
LRRC70-
-
-
-
1LossND
LRRC71-
-
-
-
3GainND
LRRC72-
-
-
-
3GainND
LRRC8A-
-
-
-
3GainND
LRRC8E-
-
-
-
1LossND
LRRCC1-
-
-
-
5AmpND
LRRD1-
-
-
-
3GainND
LRRFIP2-
-
-
-
1LossND
LRRIQ4-
-
-
-
3GainND
LRRK2p.S2325F
Missense
SNP
0.460
2-ND
LRRN1-
-
-
-
1LossND
LRRN2-
-
-
-
3GainND
LRRN3-
-
-
-
3GainND
LRRTM2-
-
-
-
1LossND
LRSAM1-
-
-
-
3GainND
LRTM1-
-
-
-
1LossND
LRWD1-
-
-
-
3GainND
LSAMP-
-
-
-
3GainND
LSG1-
-
-
-
3GainND
LSM11-
-
-
-
1LossND
LSM3-
-
-
-
1LossND
LSM4-
-
-
-
1LossND
LSM5-
-
-
-
3GainND
LSM7-
-
-
-
1LossND
LSM8-
-
-
-
3GainND
LSMEM1-
-
-
-
3GainND
LSMEM2-
-
-
-
1LossND
LTA4Hp.P456S
Missense
SNP
0.443
2-ND
LTB4R-
-
-
-
1LossND
LTB4R2-
-
-
-
1LossND
LTC4S-
-
-
-
1LossND
LTF-
-
-
-
1LossND
LUC7L2-
-
-
-
3GainND
LURAP1L-
-
-
-
1LossND
LUZP6-
-
-
-
3GainND
LVRN-
-
-
-
1LossND
LXN-
-
-
-
3GainND
LY6D-
-
-
-
5AmpND
LY6E-
-
-
-
5AmpND
LY6H-
-
-
-
5AmpND
LY6K-
-
-
-
5AmpND
LY6L-
-
-
-
5AmpND
LY9-
-
-
-
3GainND
LY96-
-
-
-
5AmpND
LYN-
-
-
-
5AmpND
LYNX1-
-
-
-
5AmpND
LYNX1-SLURP2-
-
-
-
5AmpND
LYPD2-
-
-
-
5AmpND
LYPD6p.F50I
Missense
SNP
0.481
2-ND
LYPD8-
-
-
-
3GainND
LYPLA1-
-
-
-
5AmpND
LYPLAL1-
-
-
-
3GainND
LYRM2-
-
-
-
1LossND
LYRM7-
-
-
-
1LossND
LYSMD1-
-
-
-
3GainND
LYSMD3-
-
-
-
1LossND
LYSTp.R2957*
p.P215L
Nonsense
Missense
SNP
SNP
0.462
0.428
3GainND
LYZL4p.D37N
Missense
SNP
0.277
1LossND
LZTFL1-
-
-
-
1LossND
MAATS1-
-
-
-
3GainND
MACC1-
-
-
-
3GainND
MACF1p.E4394K
p.S5268Y
Missense
Missense
SNP
SNP
0.573
0.403
2-ND
MAD1L1-
-
-
-
3GainND
MADCAM1-
-
-
-
1LossND
MAEL-
-
-
-
3GainND
MAF1-
-
-
-
5AmpND
MAFA-
-
-
-
5AmpND
MAFK-
-
-
-
3GainND
MAGEB18p.M156L
p.P215S
Missense
Missense
SNP
SNP
0.799
0.860
NDNDND
MAGEB6P1p.S43F
Missense
SNP
0.761
NDNDND
MAGEC2p.S51F
Missense
SNP
0.787
NDNDND
MAGEF1-
-
-
-
3GainND
MAGEL2p.G374*
Nonsense
SNP
0.346
2-ND
MAGI1-
-
-
-
1LossND
MAGI2-
-
-
-
3GainND
MAL2-
-
-
-
5AmpND
MALRD1p.S1609F
Missense
SNP
0.339
2-ND
MALSU1-
-
-
-
3GainND
MAMDC2-
-
-
-
3GainND
MAMDC4-
-
-
-
3GainND
MAML1p.E256K
Missense
SNP
0.473
1LossND
MAMSTR-
-
-
-
1LossND
MAN1B1-
-
-
-
3GainND
MAN2A1-
-
-
-
1LossND
MAN2B1-
-
-
-
1LossND
MANEA-
-
-
-
1LossND
MANF-
-
-
-
1LossND
MAP10-
-
-
-
3GainND
MAP1Ap.E25K
Missense
SNP
0.370
2-ND
MAP1Bp.G1273D
p.M1484I
Missense
Missense
SNP
SNP
0.352
0.433
1LossND
MAP1LC3C-
-
-
-
3GainND
MAP2K2-
-
-
-
1LossND
MAP2K7-
-
-
-
1LossND
MAP3K1-
-
-
-
1LossND
MAP3K10p.P723S
Missense
SNP
0.333
2-ND
MAP3K13-
-
-
-
3GainND
MAP3K21-
-
-
-
3GainND
MAP3K7-
-
-
-
1LossND
MAP3K9p.W95*
Nonsense
SNP
0.404
2-ND
MAP4-
-
-
-
1LossND
MAP4K1p.P311L
Missense
SNP
0.400
2-ND
MAP6D1-
-
-
-
3GainND
MAPK15p.X66_splice
Splice_Site
SNP
0.253
5AmpND
MAPK6p.R138L
Missense
SNP
0.298
2-ND
MAPK9-
-
-
-
1LossND
MAPKAP1-
-
-
-
3GainND
MAPKAPK2-
-
-
-
3GainND
MAPKAPK3-
-
-
-
1LossND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARCH2-
-
-
-
1LossND
MARCH3-
-
-
-
1LossND
MARCOp.G349E
p.Q395*
Missense
Nonsense
SNP
SNP
0.379
0.357
2-ND
MARK1-
-
-
-
3GainND
MARK4-
-
-
-
1LossND
MARVELD2-
-
-
-
1LossND
MASP1-
-
-
-
3GainND
MAST4-
-
-
-
1LossND
MAT2B-
-
-
-
1LossND
MATK-
-
-
-
1LossND
MATN2-
-
-
-
5AmpND
MATR3-
-
-
-
1LossND
MAU2-
-
-
-
1LossND
MAZp.H474Y
Missense
SNP
0.152
2-ND
MB21D2-
-
-
-
3GainND
MBD3-
-
-
-
1LossND
MBD3L1-
-
-
-
1LossND
MBD3L3-
-
-
-
1LossND
MBD3L4-
-
-
-
1LossND
MBD4-
-
-
-
3GainND
MBLAC1-
-
-
-
3GainND
MBLAC2-
-
-
-
1LossND
MBNL1-
-
-
-
3GainND
MBOAT7-
-
-
-
1LossND
MBTD1p.L107F
Missense
SNP
0.235
2-ND
MCC-
-
-
-
1LossND
MCCC1-
-
-
-
3GainND
MCCC2-
-
-
-
1LossND
MCEMP1-
-
-
-
1LossND
MCF2L2-
-
-
-
3GainND
MCHR2p.Q271K
Missense
SNP
0.522
2-ND
MCIDAS-
-
-
-
1LossND
MCL1-
-
-
-
3GainND
MCM2-
-
-
-
3GainND
MCM4-
-
-
-
5AmpND
MCM7-
-
-
-
3GainND
MCMDC2-
-
-
-
5AmpND
MCOLN1-
-
-
-
1LossND
MCTP1p.G876Dfs*3
Frame_Shift_Del
DEL
0.380
1LossND
MDFIC-
-
-
-
3GainND
MDGA2p.E483K
p.P365S
p.D87N
Missense
Missense
Missense
SNP
SNP
SNP
0.429
0.386
0.418
2-ND
MDH2p.X23_splice
Splice_Site
SNP
0.406
3GainND
MDM4-
-
-
-
3GainND
MDN1-
-
-
-
1LossND
MDP1-
-
-
-
1LossND
ME3p.D543N
Missense
SNP
0.484
2-ND
MECOMp.D73N
Missense
SNP
0.263
3GainND
MED1p.P568S
Missense
SNP
0.578
2-ND
MED12Lp.V361A
p.E1172K
Missense
Missense
SNP
SNP
0.647
0.265
3GainND
MED16-
-
-
-
1LossND
MED22-
-
-
-
3GainND
MED25-
-
-
-
1LossND
MED27-
-
-
-
3GainND
MED30-
-
-
-
5AmpND
MED7-
-
-
-
1LossND
MEF2Ap.P166L
Missense
SNP
0.580
2-ND
MEF2B-
-
-
-
1LossND
MEF2Cp.R269C
Missense
SNP
0.457
1LossND
MEF2D-
-
-
-
3GainND
MEGF10-
-
-
-
1LossND
MEGF9-
-
-
-
3GainND
MEIS3p.G223E
Missense
SNP
0.361
1LossND
MELK-
-
-
-
1LossND
MELTF-
-
-
-
3GainND
MEN1p.P325S
Missense
SNP
0.403
2-ND
MEOX2-
-
-
-
3GainND
MEP1AP4.
Splice_Site
SNP
0.392
NDNDND
MEPCE-
-
-
-
3GainND
MEST-
-
-
-
3GainND
MET-
-
-
-
3GainND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL17-
-
-
-
1LossND
METTL18-
-
-
-
3GainND
METTL25p.G406E
Missense
SNP
0.416
2-ND
METTL27-
-
-
-
3GainND
METTL2B-
-
-
-
3GainND
METTL3-
-
-
-
1LossND
METTL6-
-
-
-
1LossND
METTL9-
-
-
-
1LossND
MEX3Ap.P70F
Missense
MNP
0.442
3GainND
MEX3D-
-
-
-
1LossND
MFAP3-
-
-
-
1LossND
MFN1-
-
-
-
3GainND
MFN2p.R294*
Nonsense
SNP
0.365
2-ND
MFSD1-
-
-
-
3GainND
MFSD12-
-
-
-
1LossND
MFSD14B-
-
-
-
3GainND
MFSD14C-
-
-
-
3GainND
MFSD3-
-
-
-
4GainND
MFSD4A-
-
-
-
3GainND
MFSD8p.E336D
Missense
SNP
0.347
2-ND
MGAp.P2999S
Missense
SNP
0.496
2-ND
MGAM-
-
-
-
3GainND
MGAM2-
-
-
-
3GainND
MGAT1-
-
-
-
1LossND
MGAT4Bp.Q301H
Missense
SNP
0.504
1LossND
MGAT4Dp.D271N
Missense
SNP
0.419
2-ND
MGLL-
-
-
-
3GainND
MGME1p.P124S
Missense
SNP
0.489
2-ND
MGST3-
-
-
-
3GainND
MIA3p.S576F
Missense
SNP
0.417
3GainND
MICAL2p.P96L
Missense
SNP
0.420
2-ND
MICALL2-
-
-
-
3GainND
MICU1p.P60L
Missense
SNP
0.425
2-ND
MIDN-
-
-
-
1LossND
MIER2-
-
-
-
1LossND
MIER3-
-
-
-
1LossND
MIGA2-
-
-
-
3GainND
MIIPp.S72F
Missense
SNP
0.340
2-ND
MINDY1-
-
-
-
3GainND
MINDY4-
-
-
-
3GainND
MINDY4B-
-
-
-
3GainND
MIOS-
-
-
-
3GainND
MIPOL1p.E35K
Missense
SNP
0.367
2-ND
MISP-
-
-
-
1LossND
MITF-
-
-
-
1LossND
MIXL1-
-
-
-
3GainND
MKLN1-
-
-
-
3GainND
MKNK2-
-
-
-
1LossND
MKRN1-
-
-
-
3GainND
MKRN2-
-
-
-
1LossND
MKRN2OS-
-
-
-
1LossND
MKRN3p.R254C
Missense
SNP
0.528
2-ND
MLANA-
-
-
-
1LossND
MLF1-
-
-
-
3GainND
MLH1-
-
-
-
1LossND
MLLT1-
-
-
-
1LossND
MLLT11-
-
-
-
3GainND
MLLT3-
-
-
-
1LossND
MLXIPp.P265L
Missense
SNP
0.419
2-ND
MLXIPL-
-
-
-
3GainND
MMD2p.V199I
Missense
SNP
0.378
3GainND
MME-
-
-
-
3GainND
MMP12p.G424R
p.M156I
Missense
Missense
SNP
SNP
0.436
0.424
2-ND
MMP14-
-
-
-
1LossND
MMP16p.N348Y
p.P336S
Missense
Missense
SNP
SNP
0.146
0.578
5AmpND
MMP3p.E278K
Missense
SNP
0.350
2-ND
MN1p.P1085S
Missense
SNP
0.430
2-ND
MNDA-
-
-
-
3GainND
MNX1-
-
-
-
3GainND
MOB1A-
-
-
-
1LossND
MOB3A-
-
-
-
1LossND
MOB3B-
-
-
-
1LossND
MOB3Cp.R147G
Missense
SNP
0.334
2-ND
MOBP-
-
-
-
1LossND
MOCS2-
-
-
-
1LossND
MOGAT3-
-
-
-
3GainND
MOGS-
-
-
-
1LossND
MON1A-
-
-
-
1LossND
MORC1-
-
-
-
3GainND
MORN5p.M110I
Missense
SNP
0.327
3GainND
MOS-
-
-
-
5AmpND
MOSPD3p.R97C
Missense
SNP
0.593
3GainND
MOV10p.P475S
Missense
SNP
0.500
2-ND
MPC2-
-
-
-
3GainND
MPDZ-
-
-
-
1LossND
MPLKIP-
-
-
-
3GainND
MPND-
-
-
-
1LossND
MPP3p.D172N
Missense
SNP
0.215
2-ND
MPP6-
-
-
-
3GainND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MR1-
-
-
-
3GainND
MRAS-
-
-
-
3GainND
MRC1p.E619K
Missense
SNP
0.439
2-ND
MRGPRX1p.D9N
Missense
SNP
0.112
2-ND
MRM2-
-
-
-
3GainND
MRNIP-
-
-
-
1LossND
MROH1-
-
-
-
5AmpND
MROH2Bp.L545S
p.E424K
Missense
Missense
SNP
SNP
0.429
0.462
2-ND
MROH5-
-
-
-
5AmpND
MROH6-
-
-
-
5AmpND
MROH9-
-
-
-
3GainND
MRPL13-
-
-
-
5AmpND
MRPL15-
-
-
-
5AmpND
MRPL22-
-
-
-
1LossND
MRPL24-
-
-
-
3GainND
MRPL3-
-
-
-
3GainND
MRPL32-
-
-
-
3GainND
MRPL41-
-
-
-
3GainND
MRPL47-
-
-
-
3GainND
MRPL49p.P33L
Missense
SNP
0.282
2-ND
MRPL50p.P48S
Missense
SNP
0.299
3GainND
MRPL52-
-
-
-
1LossND
MRPL53-
-
-
-
1LossND
MRPL54-
-
-
-
1LossND
MRPL55-
-
-
-
3GainND
MRPL9-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS17-
-
-
-
3GainND
MRPS2-
-
-
-
3GainND
MRPS21-
-
-
-
3GainND
MRPS22-
-
-
-
3GainND
MRPS24-
-
-
-
3GainND
MRPS25-
-
-
-
1LossND
MRPS27-
-
-
-
1LossND
MRPS28-
-
-
-
5AmpND
MRPS33-
-
-
-
3GainND
MRPS36-
-
-
-
1LossND
MRRF-
-
-
-
3GainND
MS4A7p.M153I
Missense
SNP
0.350
2-ND
MSANTD1p.D145N
Missense
SNP
0.308
2-ND
MSANTD3-
-
-
-
3GainND
MSANTD3-TMEFF1-
-
-
-
3GainND
MSC-
-
-
-
5AmpND
MSH3-
-
-
-
1LossND
MSH4p.M515I
Missense
SNP
0.506
2-ND
MSL2-
-
-
-
3GainND
MSMP-
-
-
-
1LossND
MSR1p.G341E
Missense
SNP
0.409
2-ND
MST1-
-
-
-
1LossND
MST1R-
-
-
-
1LossND
MSTO1-
-
-
-
3GainND
MSX2-
-
-
-
1LossND
MTAP-
-
-
-
1LossND
MTBP-
-
-
-
5AmpND
MTCL1p.E939K
p.S1489F
Missense
Missense
SNP
SNP
0.422
0.433
2-ND
MTDH-
-
-
-
5AmpND
MTERF1-
-
-
-
3GainND
MTERF3-
-
-
-
5AmpND
MTF1p.D727N
Missense
SNP
0.348
2-ND
MTFR1-
-
-
-
5AmpND
MTG2p.R131_G140del
In_Frame_Del
DEL
0.144
2-ND
MTHFD2-
-
-
-
1LossND
MTHFSDp.P297S
Missense
SNP
0.507
2-ND
MTMR11-
-
-
-
3GainND
MTMR14-
-
-
-
1LossND
MTMR6p.E218K
Missense
SNP
0.379
2-ND
MTNR1Ap.P227H
Missense
SNP
0.357
2-ND
MTPN-
-
-
-
3GainND
MTRp.X825_splice
p.P1173S
Splice_Site
Missense
SNP
SNP
0.463
0.384
3GainND
MTREX-
-
-
-
1LossND
MTSS1-
-
-
-
5AmpND
MTURN-
-
-
-
3GainND
MTUS2p.R771W
Missense
SNP
0.400
2-ND
MTX1-
-
-
-
3GainND
MTX3-
-
-
-
1LossND
MUC1-
-
-
-
3GainND
MUC12p.S680L
p.P3177S
p.S3413N
Missense
Missense
Missense
SNP
SNP
SNP
0.225
0.087
0.208
3GainND
MUC13-
-
-
-
3GainND
MUC16p.D13229N
p.W4118*
p.T1006I
p.S870L
Missense
Nonsense
Missense
Missense
SNP
SNP
SNP
SNP
0.457
0.381
0.476
0.507
1LossND
MUC17p.L2064F
p.P2421L
Missense
Missense
SNP
SNP
0.513
0.507
3GainND
MUC20-
-
-
-
3GainND
MUC3Ap.D3016Y
Missense
SNP
0.267
3GainND
MUC4p.R1696C
Missense
SNP
0.578
3GainND
MUC5ACp.P2240S
Missense
SNP
0.556
2-ND
MUC5Bp.A1479T
Missense
SNP
0.335
2-ND
MUM1-
-
-
-
1LossND
MUSK-
-
-
-
3GainND
MUSTN1-
-
-
-
1LossND
MVB12B-
-
-
-
3GainND
MXD3-
-
-
-
1LossND
MYADM-
-
-
-
1LossND
MYBL1p.K678*
Nonsense
SNP
0.166
5AmpND
MYBPC2-
-
-
-
1LossND
MYBPH-
-
-
-
3GainND
MYC-
-
-
-
5AmpND
MYCBP2p.G2019N
Missense
MNP
0.286
2-ND
MYCBPAPp.P636S
Missense
SNP
0.564
2-ND
MYCT1p.G124E
Missense
SNP
0.476
2-ND
MYD88-
-
-
-
1LossND
MYDGF-
-
-
-
1LossND
MYEF2p.D367N
Missense
SNP
0.235
2-ND
MYH1p.G1247E
p.E1222K
Missense
Missense
SNP
SNP
0.686
0.580
2-ND
MYH13p.A1910V
Missense
SNP
0.642
2-ND
MYH14p.Q97*
Nonsense
SNP
0.445
1LossND
MYH15p.W15*
Nonsense
SNP
0.631
3GainND
MYH4p.E1124K
Missense
SNP
0.148
2-ND
MYH6p.E1628K
Missense
SNP
0.491
1LossND
MYH7-
-
-
-
1LossND
MYL10-
-
-
-
3GainND
MYL3-
-
-
-
1LossND
MYL7-
-
-
-
3GainND
MYLK-
-
-
-
3GainND
MYMK-
-
-
-
3GainND
MYNN-
-
-
-
3GainND
MYO15Ap.S655F
p.R950P
Missense
Missense
SNP
SNP
0.640
0.610
2-ND
MYO16p.E662K
Missense
SNP
0.420
2-ND
MYO1Ap.L543F
Missense
SNP
0.448
2-ND
MYO1Cp.P89L
Missense
SNP
0.620
2-ND
MYO1F-
-
-
-
1LossND
MYO1G-
-
-
-
3GainND
MYO5Bp.R749*
Nonsense
SNP
0.500
2-ND
MYO9Ap.S891N
Missense
SNP
0.490
2-ND
MYOC-
-
-
-
3GainND
MYOCDp.S664F
Missense
SNP
0.205
2-ND
MYOCOS-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
MYOM2p.P1017F
Missense
MNP
0.400
2-ND
MYORG-
-
-
-
1LossND
MYOTp.P349T
Missense
SNP
0.411
1LossND
MYOZ3-
-
-
-
1LossND
MYPOPp.S259F
Missense
SNP
0.459
1LossND
MYRIP-
-
-
-
1LossND
MYT1p.G376R
Missense
SNP
0.373
2-ND
MZB1-
-
-
-
1LossND
MZF1-
-
-
-
1LossND
N4BP2p.R1198K
Missense
SNP
0.538
2-ND
N4BP3p.S211F
Missense
SNP
0.336
1LossND
NAA16p.P572S
Missense
SNP
0.419
2-ND
NAA25p.L55*
Nonsense
SNP
0.451
2-ND
NAA35-
-
-
-
3GainND
NAA50-
-
-
-
3GainND
NAA80-
-
-
-
1LossND
NAALADL2-
-
-
-
3GainND
NACAp.S316F
Missense
SNP
0.427
2-ND
NACAD-
-
-
-
3GainND
NACC2-
-
-
-
3GainND
NAIF1-
-
-
-
3GainND
NAIP-
-
-
-
1LossND
NALCNp.G1499K
p.D1277N
Missense
Missense
MNP
SNP
0.354
0.282
2-ND
NAMPT-
-
-
-
3GainND
NANOS2-
-
-
-
1LossND
NANS-
-
-
-
3GainND
NAPA-
-
-
-
1LossND
NAPEPLD-
-
-
-
3GainND
NAPRT-
-
-
-
5AmpND
NAPSA-
-
-
-
1LossND
NARFp.E217K
Missense
SNP
0.490
2-ND
NAT16p.E62K
Missense
SNP
0.333
3GainND
NAV1-
-
-
-
3GainND
NAV3p.R1575W
Missense
SNP
0.288
2-ND
NAXE-
-
-
-
3GainND
NBASp.M499I
Missense
SNP
0.490
2-ND
NBEAp.D1134N
Missense
SNP
0.179
2-ND
NBEAL1p.P735S
Missense
SNP
0.442
2-ND
NBEAL2-
-
-
-
1LossND
NBN-
-
-
-
5AmpND
NBPF1-
-
-
-
1LossND
NBPF10-
-
-
-
1LossND
NBPF11p.E206K
Missense
SNP
0.423
3GainND
NBPF12-
-
-
-
1LossND
NBPF14-
-
-
-
3GainND
NBPF19-
-
-
-
3GainND
NBPF20-
-
-
-
1LossND
NBPF26p.H151Y
Missense
SNP
0.570
2-ND
NBPF9-
-
-
-
3GainND
NCALD-
-
-
-
5AmpND
NCAN-
-
-
-
1LossND
NCAPD3p.S231F
Missense
SNP
0.467
2-ND
NCAPG2-
-
-
-
3GainND
NCBP1-
-
-
-
3GainND
NCBP2-
-
-
-
3GainND
NCBP2-AS2-
-
-
-
3GainND
NCEH1-
-
-
-
3GainND
NCF1-
-
-
-
3GainND
NCF2-
-
-
-
3GainND
NCK1-
-
-
-
3GainND
NCKAP1Lp.E107K
p.P569L
Missense
Missense
SNP
SNP
0.453
0.310
2-ND
NCKAP5p.P1066L
p.G624E
Missense
Missense
SNP
SNP
0.479
0.342
2-ND
NCKAP5Lp.E1096K
Missense
SNP
0.404
2-ND
NCKIPSD-
-
-
-
1LossND
NCLN-
-
-
-
1LossND
NCOA2-
-
-
-
5AmpND
NCOA4p.E302K
Missense
SNP
0.195
2-ND
NCOR2p.S2109N
p.G804E
Missense
Missense
SNP
SNP
0.449
0.344
2-ND
NCS1-
-
-
-
3GainND
NCSTN-
-
-
-
3GainND
NDFIP1-
-
-
-
1LossND
NDOR1-
-
-
-
3GainND
NDRG1-
-
-
-
5AmpND
NDRG2p.R347L
Missense
SNP
0.468
1LossND
NDST1-
-
-
-
1LossND
NDST2p.L88I
Missense
SNP
0.410
2-ND
NDUFA11-
-
-
-
1LossND
NDUFA13-
-
-
-
1LossND
NDUFA2-
-
-
-
1LossND
NDUFA3-
-
-
-
1LossND
NDUFA4-
-
-
-
3GainND
NDUFA5-
-
-
-
3GainND
NDUFA7-
-
-
-
1LossND
NDUFA8-
-
-
-
3GainND
NDUFAF2-
-
-
-
1LossND
NDUFAF3-
-
-
-
1LossND
NDUFAF6-
-
-
-
5AmpND
NDUFB2-
-
-
-
3GainND
NDUFB3p.D94N
Missense
SNP
0.286
NDNDND
NDUFB4-
-
-
-
3GainND
NDUFB5-
-
-
-
3GainND
NDUFB6-
-
-
-
1LossND
NDUFB9-
-
-
-
5AmpND
NDUFS2-
-
-
-
3GainND
NDUFS4-
-
-
-
1LossND
NDUFS7-
-
-
-
1LossND
NEBLp.E24K
Missense
SNP
0.442
2-ND
NECAB1-
-
-
-
5AmpND
NECTIN2-
-
-
-
1LossND
NECTIN3-
-
-
-
3GainND
NECTIN4-
-
-
-
3GainND
NEDD8-
-
-
-
1LossND
NEDD8-MDP1-
-
-
-
1LossND
NEFMp.G542R
Missense
SNP
0.568
2-ND
NEK1p.R608C
p.L106S
Missense
Missense
SNP
SNP
0.534
0.360
2-ND
NEK10p.G1017E
Missense
SNP
0.224
1LossND
NEK11-
-
-
-
3GainND
NEK2-
-
-
-
3GainND
NEK4-
-
-
-
1LossND
NEK6-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NELFB-
-
-
-
3GainND
NELL2p.R389Q
Missense
SNP
0.390
2-ND
NENF-
-
-
-
3GainND
NEO1p.P370L
Missense
SNP
0.627
2-ND
NEPRO-
-
-
-
3GainND
NES-
-
-
-
3GainND
NEURL1B-
-
-
-
1LossND
NEURL4p.R1177W
p.E953K
p.P310L
Missense
Missense
Missense
SNP
SNP
SNP
0.181
0.182
0.258
2-ND
NEUROD6-
-
-
-
3GainND
NEUROG1-
-
-
-
1LossND
NF1p.S2117F
Missense
SNP
0.566
2-ND
NFASC-
-
-
-
3GainND
NFATC4-
-
-
-
1LossND
NFE2L3-
-
-
-
3GainND
NFE4-
-
-
-
3GainND
NFIB-
-
-
-
1LossND
NFICp.P102L
Missense
SNP
0.517
1LossND
NFIL3-
-
-
-
3GainND
NFIXp.P352S
Missense
SNP
0.521
2-ND
NFKB1p.P6S
Missense
SNP
0.351
2-ND
NFKBIZ-
-
-
-
3GainND
NFX1-
-
-
-
1LossND
NGDN-
-
-
-
1LossND
NGLY1-
-
-
-
1LossND
NHLH1-
-
-
-
3GainND
NHP2-
-
-
-
1LossND
NICN1-
-
-
-
1LossND
NID1-
-
-
-
3GainND
NID2p.E1024K
Missense
SNP
0.408
2-ND
NINJ1-
-
-
-
3GainND
NIPAL2-
-
-
-
5AmpND
NIPAL4p.P48S
Missense
SNP
0.536
1LossND
NIPSNAP2-
-
-
-
3GainND
NIPSNAP3A-
-
-
-
3GainND
NIPSNAP3B-
-
-
-
3GainND
NISCHp.E63A
Missense
SNP
0.276
1LossND
NIT1-
-
-
-
3GainND
NIT2-
-
-
-
3GainND
NKAIN3p.G39E
Missense
SNP
0.246
5AmpND
NKAPLp.D276N
Missense
SNP
0.531
2-ND
NKG7-
-
-
-
1LossND
NKIRAS1-
-
-
-
1LossND
NKPD1-
-
-
-
1LossND
NKTR-
-
-
-
1LossND
NKX2-5p.P3S
Missense
SNP
0.331
1LossND
NKX3-1p.E202K
Missense
SNP
0.557
2-ND
NLGN1-
-
-
-
3GainND
NLN-
-
-
-
1LossND
NLRP1p.P97L
Missense
SNP
0.732
2-ND
NLRP12-
-
-
-
1LossND
NLRP13p.H420Y
Missense
SNP
0.404
2-ND
NLRP3-
-
-
-
3GainND
NLRP9p.P329S
Missense
SNP
0.426
2-ND
NMD3p.P47L
Missense
SNP
0.577
3GainND
NME5-
-
-
-
1LossND
NME6-
-
-
-
1LossND
NME7-
-
-
-
3GainND
NME8-
-
-
-
3GainND
NME9-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NMNAT3-
-
-
-
3GainND
NMRK1-
-
-
-
3GainND
NMRK2-
-
-
-
1LossND
NMT1p.S312F
Missense
SNP
0.605
2-ND
NMUR2-
-
-
-
1LossND
NOBOX-
-
-
-
3GainND
NOD1-
-
-
-
3GainND
NOD2p.T1012I
Missense
SNP
0.430
2-ND
NOL6p.G843E
Missense
SNP
0.886
1LossND
NOL8-
-
-
-
3GainND
NOM1-
-
-
-
3GainND
NOP16-
-
-
-
1LossND
NOP53-
-
-
-
1LossND
NOP9-
-
-
-
1LossND
NOS1AP-
-
-
-
3GainND
NOS3-
-
-
-
3GainND
NOSIP-
-
-
-
1LossND
NOTCH1p.S1723N;p.X1723_splice
Splice_Site
MNP
0.932
3GainND
NOTCH2p.A1340Qfs*10
p.P2375L
Frame_Shift_Del
Missense
DEL
SNP
0.502
0.577
2-ND
NOTCH2NLA-
-
-
-
1LossND
NOTCH3p.Q1486*
p.W1028*
Nonsense
Nonsense
SNP
SNP
0.417
0.504
2-ND
NOV-
-
-
-
5AmpND
NOVA1-
-
-
-
1LossND
NOVA2-
-
-
-
1LossND
NOX5p.S598Y
Missense
SNP
0.506
2-ND
NOXA1-
-
-
-
3GainND
NPAP1p.D880N
Missense
SNP
0.388
2-ND
NPAS1-
-
-
-
1LossND
NPAS3p.P760S
Missense
SNP
0.611
2-ND
NPATp.L740V
p.S709*
Missense
Nonsense
SNP
SNP
0.156
0.149
2-ND
NPBWR1-
-
-
-
5AmpND
NPC1L1-
-
-
-
3GainND
NPDC1-
-
-
-
3GainND
NPEPL1p.W393*
Nonsense
MNP
0.267
2-ND
NPHP1p.P395Sfs*20
Frame_Shift_Ins
INS
0.263
2-ND
NPHP3-
-
-
-
3GainND
NPHP3-ACAD11-
-
-
-
3GainND
NPHP4p.E1190K
Missense
SNP
0.488
2-ND
NPHS2-
-
-
-
3GainND
NPL-
-
-
-
3GainND
NPM1-
-
-
-
1LossND
NPR1-
-
-
-
3GainND
NPR2-
-
-
-
1LossND
NPRL2-
-
-
-
1LossND
NPSR1-
-
-
-
3GainND
NPTX2-
-
-
-
3GainND
NPVF-
-
-
-
3GainND
NPY-
-
-
-
3GainND
NR0B2p.G13K
Missense
MNP
0.553
2-ND
NR1D2-
-
-
-
1LossND
NR1H2-
-
-
-
1LossND
NR1I2-
-
-
-
3GainND
NR1I3-
-
-
-
3GainND
NR2C2-
-
-
-
1LossND
NR2C2AP-
-
-
-
1LossND
NR2E3p.T6K
Missense
SNP
0.400
2-ND
NR2F1-
-
-
-
1LossND
NR3C1-
-
-
-
1LossND
NR4A3-
-
-
-
3GainND
NR5A1-
-
-
-
3GainND
NR5A2-
-
-
-
3GainND
NR6A1-
-
-
-
3GainND
NRAPp.P1669S
p.T660I
Missense
Missense
SNP
SNP
0.321
0.392
2-ND
NRARP-
-
-
-
3GainND
NRBP2-
-
-
-
5AmpND
NRCAMp.P1241S
p.W147C
Missense
Missense
SNP
SNP
0.425
0.504
3GainND
NREP-
-
-
-
1LossND
NRF1-
-
-
-
3GainND
NRG2-
-
-
-
1LossND
NRL-
-
-
-
1LossND
NRROS-
-
-
-
3GainND
NRTN-
-
-
-
1LossND
NRXN1p.G1009E
p.G156E
p.F96C
Missense
Missense
Missense
SNP
SNP
SNP
0.491
0.311
0.536
2-ND
NRXN3p.S355F
Missense
SNP
0.462
2-ND
NSA2-
-
-
-
1LossND
NSD1p.R1731C
Missense
SNP
0.393
1LossND
NSG2-
-
-
-
1LossND
NSL1-
-
-
-
3GainND
NSMAF-
-
-
-
5AmpND
NSMCE2-
-
-
-
5AmpND
NSMCE4Ap.A75T
Missense
SNP
0.425
2-ND
NSMF-
-
-
-
3GainND
NSUN3p.S226F
p.Q227*
Missense
Nonsense
SNP
SNP
0.212
0.216
3GainND
NSUN5-
-
-
-
3GainND
NT5C1Ap.P46L
Missense
SNP
0.480
2-ND
NT5C1Bp.R287K
Missense
SNP
0.385
2-ND
NT5C3A-
-
-
-
3GainND
NT5DC2-
-
-
-
1LossND
NT5DC4p.E398K
Missense
SNP
0.292
2-ND
NTF4-
-
-
-
1LossND
NTMT1-
-
-
-
3GainND
NTN1p.R72L
Missense
SNP
0.245
2-ND
NTN5-
-
-
-
1LossND
NTNG2-
-
-
-
3GainND
NTPCR-
-
-
-
3GainND
NTRK1p.E413K
Missense
SNP
0.442
3GainND
NTRK2-
-
-
-
3GainND
NTRK3p.R153W
Missense
SNP
0.457
2-ND
NUAK2-
-
-
-
3GainND
NUB1-
-
-
-
3GainND
NUCB1-
-
-
-
1LossND
NUCKS1-
-
-
-
3GainND
NUDCD1-
-
-
-
5AmpND
NUDCD2-
-
-
-
1LossND
NUDCD3-
-
-
-
3GainND
NUDT1-
-
-
-
3GainND
NUDT12-
-
-
-
1LossND
NUDT16-
-
-
-
3GainND
NUDT2-
-
-
-
1LossND
NUDT4p.S178F
Missense
SNP
0.615
2-ND
NUDT4B-
-
-
-
3GainND
NUF2-
-
-
-
3GainND
NUMBLp.P572L
Missense
SNP
0.363
2-ND
NUP133-
-
-
-
3GainND
NUP188-
-
-
-
3GainND
NUP205-
-
-
-
3GainND
NUP210-
-
-
-
1LossND
NUP210Lp.D126N
Missense
SNP
0.389
3GainND
NUP214p.P1314S
Missense
SNP
0.252
3GainND
NUP62-
-
-
-
1LossND
NUPL2p.H212Y
Missense
SNP
0.359
3GainND
NUPR2-
-
-
-
3GainND
NUTM1p.S266F
Missense
SNP
0.566
2-ND
NUTM2F-
-
-
-
3GainND
NUTM2G-
-
-
-
3GainND
NVL-
-
-
-
3GainND
NWD2p.G127E
Missense
SNP
0.627
2-ND
NXNL2-
-
-
-
3GainND
NXPE1p.G129E
Missense
SNP
0.371
2-ND
NXPE3-
-
-
-
3GainND
NXPH1-
-
-
-
3GainND
NYAP1p.P98L
p.S175F
p.V202I
p.G204W
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.507
0.378
0.397
0.484
3GainND
NYNRIN-
-
-
-
1LossND
OAZ1-
-
-
-
1LossND
OAZ3-
-
-
-
3GainND
OBP2A-
-
-
-
3GainND
OBP2B-
-
-
-
3GainND
OBSCNp.H3041Y
Missense
SNP
0.424
3GainND
OBSL1p.E1215*
p.F606L
Nonsense
Missense
SNP
SNP
0.519
0.491
2-ND
OC90-
-
-
-
5AmpND
OCLM-
-
-
-
3GainND
OCLN-
-
-
-
1LossND
OCM-
-
-
-
3GainND
OCM2-
-
-
-
3GainND
ODF1-
-
-
-
5AmpND
ODF2-
-
-
-
3GainND
ODF3L2-
-
-
-
1LossND
ODR4-
-
-
-
3GainND
OGDH-
-
-
-
3GainND
OGDHLp.E166K
Missense
SNP
0.455
2-ND
OGG1-
-
-
-
1LossND
OGN-
-
-
-
3GainND
OLFM1p.R4C
Missense
SNP
0.263
3GainND
OLFM2-
-
-
-
1LossND
OLFML2A-
-
-
-
3GainND
OLFML2B-
-
-
-
3GainND
OLIG3p.L255F
Missense
SNP
0.374
2-ND
OMD-
-
-
-
3GainND
ONECUT3-
-
-
-
1LossND
OPA1-
-
-
-
3GainND
OPA3-
-
-
-
1LossND
OPLAH-
-
-
-
5AmpND
OPN1SW-
-
-
-
3GainND
OPN3-
-
-
-
3GainND
OPRK1-
-
-
-
5AmpND
OPTC-
-
-
-
3GainND
OR10A7p.M118I
Missense
SNP
0.384
2-ND
OR10G2-
-
-
-
1LossND
OR10G3-
-
-
-
1LossND
OR10G4p.I245V
Missense
SNP
0.433
2-ND
OR10J1-
-
-
-
3GainND
OR10J3-
-
-
-
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10R2p.L206I
Missense
SNP
0.410
3GainND
OR10T2-
-
-
-
3GainND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11G2p.P197S
Missense
SNP
0.419
1LossND
OR11H4-
-
-
-
1LossND
OR11H6-
-
-
-
1LossND
OR11L1-
-
-
-
3GainND
OR13C2-
-
-
-
3GainND
OR13C3-
-
-
-
3GainND
OR13C4-
-
-
-
3GainND
OR13C5-
-
-
-
3GainND
OR13C8-
-
-
-
3GainND
OR13C9-
-
-
-
3GainND
OR13D1-
-
-
-
3GainND
OR13F1-
-
-
-
3GainND
OR13G1-
-
-
-
3GainND
OR13J1-
-
-
-
1LossND
OR14A16p.V57L
Missense
SNP
0.374
3GainND
OR14A2-
-
-
-
3GainND
OR14C36-
-
-
-
3GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
3GainND
OR1B1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR1I1p.S188Y
Missense
SNP
0.496
2-ND
OR1J1-
-
-
-
3GainND
OR1J2-
-
-
-
3GainND
OR1J4-
-
-
-
3GainND
OR1K1p.G147R
Missense
SNP
0.348
3GainND
OR1L1-
-
-
-
3GainND
OR1L3p.P79S
Missense
SNP
0.285
3GainND
OR1L4-
-
-
-
3GainND
OR1L6-
-
-
-
3GainND
OR1L8-
-
-
-
3GainND
OR1M1-
-
-
-
1LossND
OR1N1-
-
-
-
3GainND
OR1N2-
-
-
-
3GainND
OR1Q1-
-
-
-
3GainND
OR2A1-
-
-
-
3GainND
OR2A12-
-
-
-
3GainND
OR2A14-
-
-
-
3GainND
OR2A2-
-
-
-
3GainND
OR2A25-
-
-
-
3GainND
OR2A42-
-
-
-
3GainND
OR2A5-
-
-
-
3GainND
OR2A7p.E268K
p.R21S
Missense
Missense
SNP
SNP
0.104
0.247
NDNDND
OR2AE1-
-
-
-
3GainND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2B11-
-
-
-
3GainND
OR2C3-
-
-
-
3GainND
OR2F1-
-
-
-
3GainND
OR2F2-
-
-
-
3GainND
OR2G2-
-
-
-
3GainND
OR2G3-
-
-
-
3GainND
OR2G6-
-
-
-
3GainND
OR2K2-
-
-
-
3GainND
OR2L13p.L62F
Missense
SNP
0.372
3GainND
OR2L2-
-
-
-
3GainND
OR2L3-
-
-
-
3GainND
OR2L5-
-
-
-
3GainND
OR2L8-
-
-
-
3GainND
OR2M2-
-
-
-
3GainND
OR2M3-
-
-
-
3GainND
OR2M4-
-
-
-
3GainND
OR2M5-
-
-
-
3GainND
OR2M7-
-
-
-
3GainND
OR2S2-
-
-
-
1LossND
OR2T1-
-
-
-
3GainND
OR2T10-
-
-
-
3GainND
OR2T11-
-
-
-
3GainND
OR2T12-
-
-
-
3GainND
OR2T2p.E112K
Missense
SNP
0.180
3GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
3GainND
OR2T3-
-
-
-
3GainND
OR2T33-
-
-
-
3GainND
OR2T34-
-
-
-
3GainND
OR2T35-
-
-
-
3GainND
OR2T4-
-
-
-
3GainND
OR2T5-
-
-
-
3GainND
OR2T6-
-
-
-
3GainND
OR2T8-
-
-
-
3GainND
OR2V1-
-
-
-
1LossND
OR2V2-
-
-
-
1LossND
OR2W3-
-
-
-
3GainND
OR2Y1-
-
-
-
1LossND
OR2Z1p.M197I
Missense
SNP
0.453
1LossND
OR4C11-
-
-
-
1LossND
OR4C13p.D119N
Missense
SNP
0.338
2-ND
OR4C15p.G53R
p.R175C
Missense
Missense
SNP
SNP
0.408
0.433
2-ND
OR4C5p.G173R
Missense
SNP
0.374
2-ND
OR4D10p.L31I
p.G41R
Missense
Missense
SNP
SNP
0.425
0.415
2-ND
OR4D9p.A147T
Missense
SNP
0.489
2-ND
OR4E2-
-
-
-
1LossND
OR4F17-
-
-
-
1LossND
OR4K1-
-
-
-
1LossND
OR4K13-
-
-
-
1LossND
OR4K14-
-
-
-
1LossND
OR4K15-
-
-
-
1LossND
OR4K17-
-
-
-
1LossND
OR4K2-
-
-
-
1LossND
OR4K5p.R299K
Missense
SNP
0.368
1LossND
OR4L1-
-
-
-
1LossND
OR4M1p.P286L
Missense
SNP
0.275
1LossND
OR4N2-
-
-
-
1LossND
OR4N5p.G41E
Missense
SNP
0.388
1LossND
OR4P4-
-
-
-
1LossND
OR4Q2-
-
-
-
1LossND
OR4Q3-
-
-
-
1LossND
OR4S2-
-
-
-
1LossND
OR4X2p.E62K
Missense
SNP
0.368
2-ND
OR51A2p.D185N
Missense
SNP
0.277
2-ND
OR52E8p.L221F
Missense
SNP
0.424
2-ND
OR5AC2-
-
-
-
3GainND
OR5AN1p.N85S
Missense
SNP
0.395
2-ND
OR5AU1-
-
-
-
1LossND
OR5C1-
-
-
-
3GainND
OR5D14p.M47I
Missense
SNP
0.370
2-ND
OR5D18p.D300N
Missense
SNP
0.382
2-ND
OR5H1-
-
-
-
3GainND
OR5H14-
-
-
-
3GainND
OR5H15-
-
-
-
3GainND
OR5H2-
-
-
-
3GainND
OR5H6-
-
-
-
3GainND
OR5K1-
-
-
-
3GainND
OR5K2-
-
-
-
3GainND
OR5K3-
-
-
-
3GainND
OR5K4-
-
-
-
3GainND
OR6A2p.S98F
Missense
SNP
0.523
2-ND
OR6B1-
-
-
-
3GainND
OR6C3p.P259S
Missense
SNP
0.316
2-ND
OR6C4p.R120C
Missense
SNP
0.409
2-ND
OR6F1-
-
-
-
3GainND
OR6J1-
-
-
-
1LossND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6-
-
-
-
3GainND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6S1-
-
-
-
1LossND
OR6V1-
-
-
-
3GainND
OR6Y1-
-
-
-
3GainND
OR7C2p.P210S
Missense
SNP
0.494
2-ND
OR7D2p.P108S
Missense
SNP
0.438
1LossND
OR7D4-
-
-
-
1LossND
OR7E24-
-
-
-
1LossND
OR7G1-
-
-
-
1LossND
OR7G2-
-
-
-
1LossND
OR7G3-
-
-
-
1LossND
OR9A2-
-
-
-
3GainND
OR9A4-
-
-
-
3GainND
OR9I1p.S212F
Missense
SNP
0.393
2-ND
ORAI1p.T117I
Missense
SNP
0.408
2-ND
ORAI2-
-
-
-
3GainND
ORC4p.Q410*
Nonsense
SNP
0.515
2-ND
ORC5p.P320S
Missense
SNP
0.510
3GainND
ORM1-
-
-
-
3GainND
ORM2-
-
-
-
3GainND
OS9p.P537S
Missense
SNP
0.463
2-ND
OSBPL10p.M516I
Missense
SNP
0.222
1LossND
OSBPL11-
-
-
-
3GainND
OSBPL3-
-
-
-
3GainND
OSCAR-
-
-
-
1LossND
OSGEP-
-
-
-
1LossND
OSGIN2p.D412G
Missense
SNP
0.278
5AmpND
OSR2-
-
-
-
5AmpND
OSTF1-
-
-
-
3GainND
OSTN-
-
-
-
3GainND
OTOA-
-
-
-
1LossND
OTOFp.E1318K
Missense
SNP
0.411
2-ND
OTOL1-
-
-
-
3GainND
OTP-
-
-
-
1LossND
OTUD6B-
-
-
-
5AmpND
OTUD7B-
-
-
-
3GainND
OVOS2p.P516S
Missense
SNP
0.216
NDNDND
OXA1Lp.L57I
Missense
SNP
0.524
1LossND
OXNAD1-
-
-
-
1LossND
OXR1-
-
-
-
5AmpND
OXSM-
-
-
-
1LossND
OXSR1-
-
-
-
1LossND
OXTR-
-
-
-
1LossND
P2RY1p.H79Y
Missense
SNP
0.628
3GainND
P2RY12-
-
-
-
3GainND
P2RY13-
-
-
-
3GainND
P2RY14-
-
-
-
3GainND
P3H2-
-
-
-
3GainND
P4HA2-
-
-
-
1LossND
P4HTM-
-
-
-
1LossND
PABPC1-
-
-
-
5AmpND
PABPN1-
-
-
-
1LossND
PADI4p.G4E
Missense
SNP
0.464
2-ND
PAEP-
-
-
-
3GainND
PAG1-
-
-
-
5AmpND
PAIP2-
-
-
-
1LossND
PAK2p.P448L
Missense
SNP
0.603
3GainND
PAK5p.F525L
Missense
SNP
0.527
2-ND
PALM-
-
-
-
1LossND
PALM2-
-
-
-
3GainND
PALM2-AKAP2p.P257T
Missense
SNP
0.363
3GainND
PAM-
-
-
-
1LossND
PANK3-
-
-
-
1LossND
PAPOLB-
-
-
-
3GainND
PAPPA-
-
-
-
3GainND
PAPPA2p.P647L
p.E1581K
Missense
Missense
SNP
SNP
0.508
0.496
3GainND
PAQR6-
-
-
-
3GainND
PAQR9-
-
-
-
3GainND
PARL-
-
-
-
3GainND
PARP1-
-
-
-
3GainND
PARP10-
-
-
-
5AmpND
PARP12-
-
-
-
3GainND
PARP14-
-
-
-
3GainND
PARP15p.X411_splice
Splice_Site
SNP
0.275
3GainND
PARP2-
-
-
-
1LossND
PARP3-
-
-
-
1LossND
PARP8-
-
-
-
1LossND
PARP9-
-
-
-
3GainND
PAX4-
-
-
-
3GainND
PAX5-
-
-
-
1LossND
PAXIP1-
-
-
-
3GainND
PAXX-
-
-
-
3GainND
PBRM1-
-
-
-
1LossND
PBX1-
-
-
-
3GainND
PBX3-
-
-
-
3GainND
PBX4-
-
-
-
1LossND
PBXIP1-
-
-
-
3GainND
PCBD2-
-
-
-
1LossND
PCBP4-
-
-
-
1LossND
PCCB-
-
-
-
3GainND
PCDH1-
-
-
-
1LossND
PCDH12-
-
-
-
1LossND
PCDH8p.P1038S
Missense
SNP
0.342
2-ND
PCDH9p.G1226*
Nonsense
SNP
0.380
2-ND
PCDHA10p.H31N
Missense
SNP
0.415
2-ND
PCDHA13p.A167T
Missense
SNP
0.404
2-ND
PCDHA2p.A363T
p.E444K
Missense
Missense
SNP
SNP
0.475
0.284
2-ND
PCDHA3p.H294Y
Missense
SNP
0.467
2-ND
PCDHA6p.G430E
Missense
SNP
0.419
2-ND
PCDHA9p.E94K
Missense
SNP
0.526
2-ND
PCDHB1p.S544G
Missense
SNP
0.431
2-ND
PCDHB11p.S213F
p.S667F
Missense
Missense
SNP
SNP
0.133
0.294
2-ND
PCDHB2p.E96K
Missense
SNP
0.470
2-ND
PCDHB6p.P731S
p.P773S
Missense
Missense
SNP
SNP
0.560
0.489
2-ND
PCDHB8p.D480N
Missense
SNP
0.579
2-ND
PCDHGA12p.P669S
Missense
SNP
0.402
2-ND
PCDHGA4p.D40N
p.P184S
Missense
Missense
SNP
SNP
0.198
0.461
2-ND
PCDHGA6p.N81K
Missense
SNP
0.436
2-ND
PCDHGB1p.V667E
Missense
SNP
0.449
2-ND
PCDHGB2p.S503F
Missense
SNP
0.467
2-ND
PCED1Ap.E364K
Missense
SNP
0.333
2-ND
PCGF1-
-
-
-
1LossND
PCK2-
-
-
-
1LossND
PCLOp.P4539S
Missense
SNP
0.390
3GainND
PCM1p.X1784_splice
Splice_Site
SNP
0.282
2-ND
PCMTD1-
-
-
-
5AmpND
PCMTD2p.Q159*
Nonsense
SNP
0.413
2-ND
PCNP-
-
-
-
3GainND
PCNTp.R2663C
Missense
SNP
0.381
2-ND
PCNX2p.P429S
Missense
SNP
0.415
3GainND
PCOLCEp.W65*
Nonsense
SNP
0.405
3GainND
PCOLCE2-
-
-
-
3GainND
PCP2-
-
-
-
1LossND
PCP4L1-
-
-
-
3GainND
PCSK1-
-
-
-
1LossND
PCSK4-
-
-
-
1LossND
PCSK5p.K708N
Missense
SNP
0.101
3GainND
PCYOX1L-
-
-
-
1LossND
PCYT1A-
-
-
-
3GainND
PDAP1-
-
-
-
3GainND
PDC-
-
-
-
3GainND
PDCD10-
-
-
-
3GainND
PDCD11p.L399F
Missense
SNP
0.419
2-ND
PDCD1LG2-
-
-
-
1LossND
PDCD6IP-
-
-
-
1LossND
PDCL-
-
-
-
3GainND
PDE12-
-
-
-
1LossND
PDE1C-
-
-
-
3GainND
PDE2Ap.F667Y
Missense
SNP
0.417
2-ND
PDE3Bp.H764N
Missense
SNP
0.385
2-ND
PDE4D-
-
-
-
1LossND
PDE4DIPp.L921F
Missense
SNP
0.398
3GainND
PDE6A-
-
-
-
1LossND
PDE6Gp.L49F
Missense
SNP
0.258
2-ND
PDE7A-
-
-
-
5AmpND
PDE8B-
-
-
-
1LossND
PDGFA-
-
-
-
3GainND
PDGFRBp.S650L
Missense
SNP
0.446
1LossND
PDHA2p.P314S
Missense
SNP
0.521
2-ND
PDHB-
-
-
-
1LossND
PDIA2p.E405K
Missense
SNP
0.225
2-ND
PDIA4-
-
-
-
3GainND
PDIA5-
-
-
-
3GainND
PDK4-
-
-
-
3GainND
PDLIM4-
-
-
-
1LossND
PDLIM7-
-
-
-
1LossND
PDP1-
-
-
-
5AmpND
PDYNp.P71S
Missense
SNP
0.310
2-ND
PDZD2p.S1386F
Missense
SNP
0.373
2-ND
PDZRN3-
-
-
-
1LossND
PEA15-
-
-
-
3GainND
PEAK3-
-
-
-
1LossND
PEAR1-
-
-
-
3GainND
PEBP4p.K36E
Missense
SNP
0.579
2-ND
PEG10-
-
-
-
3GainND
PEG3p.K1339G
Missense
MNP
0.619
1LossND
PELO-
-
-
-
1LossND
PENK-
-
-
-
5AmpND
PET100-
-
-
-
1LossND
PEX1-
-
-
-
3GainND
PEX11G-
-
-
-
1LossND
PEX19-
-
-
-
3GainND
PEX2-
-
-
-
5AmpND
PEX3p.E211K
Missense
SNP
0.400
2-ND
PEX5L-
-
-
-
3GainND
PFDN1-
-
-
-
1LossND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PFKFB4-
-
-
-
1LossND
PFN2-
-
-
-
3GainND
PFN3-
-
-
-
1LossND
PGAM2p.G34E
Missense
SNP
0.389
3GainND
PGAP2p.L25F
Missense
SNP
0.450
2-ND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGGT1B-
-
-
-
1LossND
PGLYRP1-
-
-
-
1LossND
PGLYRP3-
-
-
-
3GainND
PGLYRP4p.G220R
Missense
SNP
0.357
3GainND
PGM5-
-
-
-
3GainND
PGPEP1-
-
-
-
1LossND
PHACTR4p.P395L
Missense
SNP
0.464
2-ND
PHAX-
-
-
-
1LossND
PHC3-
-
-
-
3GainND
PHF14-
-
-
-
3GainND
PHF19-
-
-
-
3GainND
PHF2-
-
-
-
3GainND
PHF20L1p.E14Q
p.E299G
Missense
Missense
SNP
SNP
0.151
0.126
5AmpND
PHF21Ap.G289R
Missense
SNP
0.333
2-ND
PHF24-
-
-
-
1LossND
PHF7-
-
-
-
1LossND
PHKG1-
-
-
-
3GainND
PHLDA3-
-
-
-
3GainND
PHLDB2-
-
-
-
3GainND
PHLDB3p.E147K
Missense
SNP
0.396
2-ND
PHLPP1p.E1016K
Missense
SNP
0.436
2-ND
PHPT1-
-
-
-
3GainND
PHRF1p.P741L
Missense
SNP
0.371
2-ND
PHTF2-
-
-
-
3GainND
PHYHD1-
-
-
-
3GainND
PHYKPL-
-
-
-
1LossND
PI15-
-
-
-
5AmpND
PI4KB-
-
-
-
3GainND
PIAS2p.F179L
p.E176K
Missense
Missense
SNP
SNP
0.333
0.440
2-ND
PIAS4-
-
-
-
1LossND
PIGC-
-
-
-
3GainND
PIGM-
-
-
-
3GainND
PIGO-
-
-
-
1LossND
PIGR-
-
-
-
3GainND
PIGWp.L121Hfs*13
Frame_Shift_Del
DEL
0.597
2-ND
PIGX-
-
-
-
3GainND
PIGZ-
-
-
-
3GainND
PIH1D1-
-
-
-
1LossND
PIK3C2B-
-
-
-
3GainND
PIK3CA-
-
-
-
3GainND
PIK3CB-
-
-
-
3GainND
PIK3CDp.P305L
Missense
SNP
0.452
2-ND
PIK3CGp.A84T
Missense
SNP
0.394
3GainND
PIK3R1-
-
-
-
1LossND
PIK3R2p.D557Y
Missense
SNP
0.344
2-ND
PIK3R4-
-
-
-
3GainND
PILRA-
-
-
-
3GainND
PILRB-
-
-
-
3GainND
PIN1-
-
-
-
1LossND
PIP-
-
-
-
3GainND
PIP4P1-
-
-
-
1LossND
PIP4P2-
-
-
-
5AmpND
PIP5K1A-
-
-
-
3GainND
PIP5K1B-
-
-
-
3GainND
PIP5K1C-
-
-
-
1LossND
PIP5KL1-
-
-
-
3GainND
PITPNM2p.A275V
Missense
SNP
0.411
2-ND
PITX1-
-
-
-
1LossND
PJA2-
-
-
-
1LossND
PKD1L1-
-
-
-
3GainND
PKD2L2-
-
-
-
1LossND
PKDREJp.H1268Y
Missense
SNP
0.442
2-ND
PKHD1L1p.S2867F
Missense
SNP
0.204
5AmpND
PKIA-
-
-
-
5AmpND
PKLR-
-
-
-
3GainND
PKN3-
-
-
-
3GainND
PKP1-
-
-
-
3GainND
PKP4p.E633Q
Missense
SNP
0.179
2-ND
PLA1A-
-
-
-
3GainND
PLA2G15p.G135S
Missense
SNP
0.205
2-ND
PLA2G2Fp.D101N
Missense
SNP
0.437
2-ND
PLA2G4A-
-
-
-
3GainND
PLA2G4Cp.P446L
Missense
SNP
0.578
1LossND
PLA2R1p.L429F
Missense
SNP
0.332
2-ND
PLAA-
-
-
-
1LossND
PLAC8L1-
-
-
-
1LossND
PLAG1-
-
-
-
5AmpND
PLBD2p.S506F
Missense
SNP
0.390
2-ND
PLCB1p.Y334F
p.L335F
Missense
Missense
SNP
SNP
0.504
0.491
2-ND
PLCB4p.K1098R
Missense
SNP
0.364
2-ND
PLCD1-
-
-
-
1LossND
PLCH1-
-
-
-
3GainND
PLCL1p.R459Q
Missense
SNP
0.387
2-ND
PLCL2-
-
-
-
1LossND
PLCXD2-
-
-
-
3GainND
PLD1-
-
-
-
3GainND
PLD2p.D138N
Missense
SNP
0.242
2-ND
PLD5-
-
-
-
3GainND
PLECp.L3584F
Missense
SNP
0.219
5AmpND
PLEKHA4-
-
-
-
1LossND
PLEKHA6p.Q405*
Nonsense
SNP
0.447
3GainND
PLEKHA8-
-
-
-
3GainND
PLEKHF2-
-
-
-
5AmpND
PLEKHG2p.R1348Q
Missense
SNP
0.343
2-ND
PLEKHG4p.L979P
Missense
SNP
0.533
2-ND
PLEKHG5p.M481I
p.K132*
Missense
Nonsense
SNP
SNP
0.377
0.459
2-ND
PLEKHJ1-
-
-
-
1LossND
PLEKHO1p.G328R
Missense
SNP
0.371
3GainND
PLGRKT-
-
-
-
1LossND
PLIN2-
-
-
-
1LossND
PLIN3p.T328I
Missense
SNP
0.277
1LossND
PLIN4-
-
-
-
1LossND
PLIN5-
-
-
-
1LossND
PLK2-
-
-
-
1LossND
PLK3p.R296Q
Missense
SNP
0.462
2-ND
PLK5-
-
-
-
1LossND
PLOD2-
-
-
-
3GainND
PLOD3-
-
-
-
3GainND
PLPP1-
-
-
-
1LossND
PLPP2-
-
-
-
1LossND
PLPP5p.G2R
Missense
SNP
0.203
2-ND
PLPP6-
-
-
-
1LossND
PLPP7-
-
-
-
3GainND
PLPPR1-
-
-
-
3GainND
PLPPR3-
-
-
-
1LossND
PLS1-
-
-
-
3GainND
PLSCR1-
-
-
-
3GainND
PLSCR2p.Q5*
Nonsense
SNP
0.254
3GainND
PLSCR4-
-
-
-
3GainND
PLSCR5-
-
-
-
3GainND
PLXNA1-
-
-
-
3GainND
PLXNA2-
-
-
-
3GainND
PLXNA4-
-
-
-
3GainND
PLXNB1p.E1573K
Missense
SNP
0.463
1LossND
PLXND1p.S1286F
Missense
SNP
0.253
3GainND
PM20D1-
-
-
-
3GainND
PM20D2-
-
-
-
1LossND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMLp.V333M
Missense
SNP
0.295
2-ND
PMP2-
-
-
-
5AmpND
PMPCA-
-
-
-
3GainND
PMPCB-
-
-
-
3GainND
PMS2-
-
-
-
3GainND
PMVK-
-
-
-
3GainND
PNKP-
-
-
-
1LossND
PNMA8A-
-
-
-
1LossND
PNMA8B-
-
-
-
1LossND
PNP-
-
-
-
1LossND
PNPLA6-
-
-
-
1LossND
PNPLA7-
-
-
-
3GainND
PNPLA8-
-
-
-
3GainND
PNRC1-
-
-
-
1LossND
POC1A-
-
-
-
1LossND
POC5-
-
-
-
1LossND
PODXL-
-
-
-
3GainND
PODXL2-
-
-
-
3GainND
POGK-
-
-
-
3GainND
POGLUT1-
-
-
-
3GainND
POGZ-
-
-
-
3GainND
POLD1-
-
-
-
1LossND
POLD2-
-
-
-
3GainND
POLDIP3p.P406L
Missense
SNP
0.346
2-ND
POLE3-
-
-
-
3GainND
POLK-
-
-
-
1LossND
POLM-
-
-
-
3GainND
POLQ-
-
-
-
3GainND
POLR1E-
-
-
-
1LossND
POLR2E-
-
-
-
1LossND
POLR2H-
-
-
-
3GainND
POLR2J-
-
-
-
3GainND
POLR2J2-
-
-
-
3GainND
POLR2J3-
-
-
-
3GainND
POLR2K-
-
-
-
5AmpND
POLR3Bp.P673S
Missense
SNP
0.421
2-ND
POLR3G-
-
-
-
1LossND
POLRMT-
-
-
-
1LossND
POM121-
-
-
-
3GainND
POM121C-
-
-
-
3GainND
POM121L12-
-
-
-
3GainND
POM121L2p.I286T
Missense
SNP
0.867
2-ND
POMGNT2-
-
-
-
1LossND
POMT1-
-
-
-
3GainND
POMT2p.P363S
Missense
SNP
0.492
2-ND
POMZP3-
-
-
-
3GainND
PON1-
-
-
-
3GainND
PON2-
-
-
-
3GainND
PON3-
-
-
-
3GainND
POP1-
-
-
-
5AmpND
POP7-
-
-
-
3GainND
POPDC2-
-
-
-
3GainND
POR-
-
-
-
3GainND
PORCNp.E263K
Missense
SNP
0.843
NDNDND
POT1p.E128G
Missense
SNP
0.489
3GainND
POTEG-
-
-
-
1LossND
POTEM-
-
-
-
1LossND
POU1F1-
-
-
-
1LossND
POU2AF1p.P101L
Missense
SNP
0.404
2-ND
POU2F1-
-
-
-
3GainND
POU4F3p.S67F
Missense
SNP
0.329
1LossND
POU5F1Bp.Q282*
Nonsense
SNP
0.657
5AmpND
POU5F2-
-
-
-
1LossND
POU6F2-
-
-
-
3GainND
PP2D1-
-
-
-
1LossND
PPARG-
-
-
-
1LossND
PPARGC1Bp.L594F
Missense
SNP
0.153
1LossND
PPDPFL-
-
-
-
5AmpND
PPFIA3-
-
-
-
1LossND
PPFIA4-
-
-
-
3GainND
PPIA-
-
-
-
3GainND
PPIC-
-
-
-
1LossND
PPIP5K2-
-
-
-
1LossND
PPM1Ep.W620*
Nonsense
SNP
0.254
2-ND
PPM1L-
-
-
-
3GainND
PPM1M-
-
-
-
1LossND
PPM1N-
-
-
-
1LossND
PPOXp.R230C
Missense
SNP
0.439
3GainND
PPP1R12B-
-
-
-
3GainND
PPP1R13Lp.Q409*
Nonsense
SNP
0.378
1LossND
PPP1R15A-
-
-
-
1LossND
PPP1R15B-
-
-
-
3GainND
PPP1R16A-
-
-
-
4GainND
PPP1R16Bp.R291K
Missense
SNP
0.348
2-ND
PPP1R17-
-
-
-
3GainND
PPP1R2-
-
-
-
3GainND
PPP1R26-
-
-
-
3GainND
PPP1R2B-
-
-
-
1LossND
PPP1R35-
-
-
-
3GainND
PPP1R37-
-
-
-
1LossND
PPP1R3A-
-
-
-
3GainND
PPP1R3E-
-
-
-
1LossND
PPP1R3Fp.P696L
Missense
SNP
0.856
NDNDND
PPP1R42-
-
-
-
5AmpND
PPP1R9Ap.P1213S
Missense
SNP
0.376
3GainND
PPP2CA-
-
-
-
1LossND
PPP2R1A-
-
-
-
1LossND
PPP2R2B-
-
-
-
1LossND
PPP2R3A-
-
-
-
3GainND
PPP2R5A-
-
-
-
3GainND
PPP3R2-
-
-
-
3GainND
PPP4R2-
-
-
-
1LossND
PPP4R3CPp.G79D
Missense
SNP
0.830
NDNDND
PPP5C-
-
-
-
1LossND
PPP5D1-
-
-
-
1LossND
PPP6C-
-
-
-
3GainND
PPP6R3p.S202L
Missense
SNP
0.344
2-ND
PPWD1-
-
-
-
1LossND
PQLC2L-
-
-
-
3GainND
PRAM1-
-
-
-
1LossND
PRAMEp.P486S
Missense
SNP
0.468
2-ND
PRAMEF27p.P67S
Missense
SNP
0.171
NDNDND
PRAMEF7p.G328D
Missense
SNP
0.419
2-ND
PRAMEF8p.D20N
Missense
SNP
0.300
2-ND
PRB4p.G107E
Missense
SNP
0.364
2-ND
PRCC-
-
-
-
3GainND
PRDM10p.P209L
Missense
SNP
0.426
2-ND
PRDM12-
-
-
-
3GainND
PRDM14-
-
-
-
5AmpND
PRDM6-
-
-
-
1LossND
PRDM7p.N126I
Missense
SNP
0.381
2-ND
PRDM9p.E132K
Missense
SNP
0.500
2-ND
PRDX6-
-
-
-
3GainND
PRELID1-
-
-
-
1LossND
PRELID2-
-
-
-
1LossND
PRELP-
-
-
-
3GainND
PREX1p.G603E
p.P439S
Missense
Missense
SNP
SNP
0.512
0.512
2-ND
PREX2p.H1404Ifs*9
Frame_Shift_Del
DEL
0.372
5AmpND
PRG4-
-
-
-
3GainND
PRICKLE1p.P58S
Missense
SNP
0.348
2-ND
PRICKLE2-
-
-
-
1LossND
PRKAB2-
-
-
-
3GainND
PRKACGp.D100N
Missense
SNP
0.241
3GainND
PRKAG2-
-
-
-
3GainND
PRKAR1B-
-
-
-
3GainND
PRKAR2Ap.H165Y
Missense
SNP
0.241
1LossND
PRKAR2B-
-
-
-
3GainND
PRKCD-
-
-
-
1LossND
PRKCG-
-
-
-
1LossND
PRKCI-
-
-
-
3GainND
PRKCQp.E636K
Missense
SNP
0.366
2-ND
PRKCZp.W434*
Nonsense
SNP
0.547
2-ND
PRKD2-
-
-
-
1LossND
PRKDCp.A1928T;p.M1927I
Missense
MNP
0.251
5AmpND
PRKG2p.K502T
Missense
SNP
0.376
2-ND
PRKRIP1-
-
-
-
3GainND
PRMT1-
-
-
-
1LossND
PRMT5-
-
-
-
1LossND
PROB1-
-
-
-
1LossND
PROK2-
-
-
-
1LossND
PROP1-
-
-
-
1LossND
PROS1-
-
-
-
3GainND
PROX1-
-
-
-
3GainND
PRPF3-
-
-
-
3GainND
PRPF31-
-
-
-
1LossND
PRPF4p.W392*
Nonsense
SNP
0.486
3GainND
PRPF8p.P1313L
Missense
SNP
0.645
2-ND
PRPS1L1-
-
-
-
3GainND
PRR12-
-
-
-
1LossND
PRR15-
-
-
-
3GainND
PRR16-
-
-
-
1LossND
PRR19p.R119L
Missense
SNP
0.457
2-ND
PRR22-
-
-
-
1LossND
PRR23A-
-
-
-
3GainND
PRR23B-
-
-
-
3GainND
PRR23C-
-
-
-
3GainND
PRR36-
-
-
-
1LossND
PRR7-
-
-
-
1LossND
PRR9-
-
-
-
3GainND
PRRC1-
-
-
-
1LossND
PRRC2Ap.R756Q
p.K1253*
Missense
Nonsense
SNP
SNP
0.852
0.879
2-ND
PRRC2B-
-
-
-
3GainND
PRRC2Cp.D756N
Missense
SNP
0.405
3GainND
PRRG2-
-
-
-
1LossND
PRRT1B-
-
-
-
3GainND
PRRT3-
-
-
-
1LossND
PRRT4-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRRX2-
-
-
-
3GainND
PRSS1-
-
-
-
3GainND
PRSS2-
-
-
-
3GainND
PRSS3-
-
-
-
1LossND
PRSS35p.P143L
p.S236F
Missense
Missense
SNP
SNP
0.551
0.393
2-ND
PRSS37-
-
-
-
3GainND
PRSS38-
-
-
-
3GainND
PRSS42-
-
-
-
1LossND
PRSS45-
-
-
-
1LossND
PRSS50-
-
-
-
1LossND
PRSS57-
-
-
-
1LossND
PRSS58-
-
-
-
3GainND
PRTN3-
-
-
-
1LossND
PRUNE1-
-
-
-
3GainND
PRUNE2p.R2227K
Missense
SNP
0.479
3GainND
PRXL2C-
-
-
-
3GainND
PSAT1-
-
-
-
3GainND
PSCA-
-
-
-
5AmpND
PSDp.P343S
Missense
SNP
0.386
2-ND
PSD2-
-
-
-
1LossND
PSEN2-
-
-
-
3GainND
PSIP1-
-
-
-
1LossND
PSKH2-
-
-
-
5AmpND
PSMA2-
-
-
-
3GainND
PSMB11-
-
-
-
1LossND
PSMB4-
-
-
-
3GainND
PSMB5-
-
-
-
1LossND
PSMB7-
-
-
-
3GainND
PSMC2-
-
-
-
3GainND
PSMD2-
-
-
-
3GainND
PSMD4-
-
-
-
3GainND
PSMD5-
-
-
-
3GainND
PSMD6-
-
-
-
1LossND
PSME1-
-
-
-
1LossND
PSME2-
-
-
-
1LossND
PSMG3-
-
-
-
3GainND
PSPH-
-
-
-
3GainND
PSPN-
-
-
-
1LossND
PTAR1-
-
-
-
3GainND
PTBP1-
-
-
-
1LossND
PTBP3-
-
-
-
3GainND
PTCD1-
-
-
-
3GainND
PTCD2-
-
-
-
1LossND
PTCH1p.R783W
Missense
SNP
0.288
3GainND
PTCHD1p.G331R
Missense
SNP
0.729
NDNDND
PTDSS1p.D441N
Missense
SNP
0.258
5AmpND
PTGDR2p.A250T
Missense
SNP
0.446
2-ND
PTGDS-
-
-
-
3GainND
PTGES-
-
-
-
3GainND
PTGES2-
-
-
-
3GainND
PTGIR-
-
-
-
1LossND
PTGR1-
-
-
-
3GainND
PTGS1p.S529T
Missense
SNP
0.394
3GainND
PTGS2-
-
-
-
3GainND
PTHp.D24N
Missense
SNP
0.423
2-ND
PTH1R-
-
-
-
1LossND
PTH2-
-
-
-
1LossND
PTK2-
-
-
-
5AmpND
PTK7p.Y688F
Missense
SNP
0.466
2-ND
PTN-
-
-
-
3GainND
PTOV1-
-
-
-
1LossND
PTP4A3-
-
-
-
5AmpND
PTPA-
-
-
-
3GainND
PTPDC1-
-
-
-
3GainND
PTPN12-
-
-
-
3GainND
PTPN14p.P427S
p.P416S
Missense
Missense
SNP
SNP
0.416
0.396
3GainND
PTPN23-
-
-
-
1LossND
PTPN3-
-
-
-
3GainND
PTPN4p.Q343*
Nonsense
SNP
0.410
2-ND
PTPN5p.X334_splice
Splice_Site
SNP
0.475
2-ND
PTPN7-
-
-
-
3GainND
PTPRBp.X1796_splice
p.E1251K
p.G216E
Splice_Site
Missense
Missense
SNP
SNP
SNP
0.397
0.469
0.349
2-ND
PTPRC-
-
-
-
3GainND
PTPRD-
-
-
-
1LossND
PTPRFp.Q1625*
Nonsense
SNP
0.371
2-ND
PTPRG-
-
-
-
1LossND
PTPRJp.S724F
Missense
SNP
0.389
2-ND
PTPRN2-
-
-
-
3GainND
PTPRSp.R1829W
Missense
SNP
0.295
1LossND
PTPRZ1-
-
-
-
3GainND
PTRH1-
-
-
-
3GainND
PTTG1-
-
-
-
1LossND
PTX3-
-
-
-
3GainND
PUF60-
-
-
-
5AmpND
PUM1p.G674K
Missense
MNP
0.327
2-ND
PUM3-
-
-
-
1LossND
PURA-
-
-
-
1LossND
PURB-
-
-
-
3GainND
PUS7-
-
-
-
3GainND
PVRIG-
-
-
-
3GainND
PWWP2A-
-
-
-
1LossND
PXDNp.T682L
Missense
MNP
0.464
2-ND
PXDNLp.A750V
Missense
SNP
0.247
5AmpND
PXK-
-
-
-
1LossND
PXYLP1-
-
-
-
3GainND
PYCR2-
-
-
-
3GainND
PYCR3-
-
-
-
5AmpND
PYDC2-
-
-
-
3GainND
PYGMp.F167Y
Missense
SNP
0.406
2-ND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
PYYp.G65E
Missense
SNP
0.268
2-ND
QARS-
-
-
-
1LossND
QPCTL-
-
-
-
1LossND
QRFP-
-
-
-
3GainND
QRICH1-
-
-
-
1LossND
QRICH2p.S994F
Missense
SNP
0.227
2-ND
QSOX1p.P367L
Missense
SNP
0.348
3GainND
QSOX2-
-
-
-
3GainND
QTRT2-
-
-
-
3GainND
R3HDM4-
-
-
-
1LossND
RAB11Bp.P191L
Missense
MNP
0.401
1LossND
RAB11FIP5p.G709R
Missense
SNP
0.450
2-ND
RAB13p.E108K
Missense
SNP
0.437
3GainND
RAB14-
-
-
-
3GainND
RAB19-
-
-
-
3GainND
RAB24-
-
-
-
1LossND
RAB25-
-
-
-
3GainND
RAB29-
-
-
-
3GainND
RAB2A-
-
-
-
5AmpND
RAB2B-
-
-
-
1LossND
RAB3C-
-
-
-
1LossND
RAB3GAP2-
-
-
-
3GainND
RAB43-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RAB5A-
-
-
-
1LossND
RAB6B-
-
-
-
3GainND
RAB7A-
-
-
-
3GainND
RABEP1p.L807S
Missense
SNP
0.658
2-ND
RABEPK-
-
-
-
3GainND
RABGAP1-
-
-
-
3GainND
RABGAP1L-
-
-
-
3GainND
RABGEF1-
-
-
-
3GainND
RABGGTA-
-
-
-
1LossND
RABIF-
-
-
-
3GainND
RABL3-
-
-
-
3GainND
RABL6-
-
-
-
3GainND
RAC1-
-
-
-
3GainND
RACGAP1p.E348K
Missense
SNP
0.390
2-ND
RACK1-
-
-
-
1LossND
RAD17-
-
-
-
1LossND
RAD18-
-
-
-
1LossND
RAD21-
-
-
-
5AmpND
RAD23B-
-
-
-
3GainND
RAD50-
-
-
-
1LossND
RAD52p.R278*
p.L159F
Nonsense
Missense
SNP
SNP
0.468
0.296
2-ND
RAD54B-
-
-
-
5AmpND
RAD54L2-
-
-
-
1LossND
RADIL-
-
-
-
3GainND
RAF1-
-
-
-
1LossND
RALA-
-
-
-
3GainND
RALGAPA2p.E575K
Missense
SNP
0.493
2-ND
RALGDS-
-
-
-
3GainND
RALGPS1-
-
-
-
3GainND
RALGPS2p.T577_L579del
In_Frame_Del
DEL
0.402
3GainND
RALYL-
-
-
-
5AmpND
RAMP3p.E30K
Missense
SNP
0.496
3GainND
RANBP17-
-
-
-
1LossND
RANBP3-
-
-
-
1LossND
RANBP6-
-
-
-
1LossND
RAP2B-
-
-
-
3GainND
RAPGEF1-
-
-
-
3GainND
RAPGEF2p.G937S
Missense
SNP
0.615
2-ND
RAPGEF5-
-
-
-
3GainND
RAPGEF6-
-
-
-
1LossND
RAPGEFL1p.P144S
Missense
SNP
0.564
2-ND
RARAp.K118Nfs*31
Frame_Shift_Del
DEL
0.534
2-ND
RARB-
-
-
-
1LossND
RARRES1-
-
-
-
3GainND
RARRES2-
-
-
-
3GainND
RARS-
-
-
-
1LossND
RASA1-
-
-
-
1LossND
RASA2-
-
-
-
3GainND
RASA4-
-
-
-
3GainND
RASA4B-
-
-
-
3GainND
RASAL1p.P806S
Missense
SNP
0.515
2-ND
RASAL2-
-
-
-
3GainND
RASEFp.M184I
Missense
SNP
0.514
3GainND
RASGEF1C-
-
-
-
1LossND
RASGRF2p.H404Y
Missense
SNP
0.310
1LossND
RASGRP3p.S387L
Missense
SNP
0.534
2-ND
RASGRP4p.P94L
Missense
SNP
0.358
2-ND
RASIP1p.A141V
Missense
SNP
0.417
1LossND
RASSF1-
-
-
-
1LossND
RASSF2p.R78*
Nonsense
SNP
0.500
2-ND
RASSF5-
-
-
-
3GainND
RAVER1p.P482S
p.P146L
Missense
Missense
SNP
SNP
0.395
0.396
2-ND
RAX2-
-
-
-
1LossND
RB1CC1-
-
-
-
5AmpND
RBAK-
-
-
-
3GainND
RBAK-RBAKDN-
-
-
-
3GainND
RBBP5-
-
-
-
3GainND
RBFOX1p.G396D
Missense
SNP
0.376
2-ND
RBL2p.R493C
Missense
SNP
0.543
2-ND
RBM12B-
-
-
-
5AmpND
RBM15B-
-
-
-
1LossND
RBM18-
-
-
-
3GainND
RBM19p.X749_splice
Splice_Site
SNP
0.344
2-ND
RBM22-
-
-
-
1LossND
RBM23-
-
-
-
1LossND
RBM27-
-
-
-
1LossND
RBM28-
-
-
-
3GainND
RBM33-
-
-
-
3GainND
RBM34-
-
-
-
3GainND
RBM48-
-
-
-
3GainND
RBM5-
-
-
-
1LossND
RBM6p.S101L
Missense
SNP
0.183
1LossND
RBMS3-
-
-
-
1LossND
RBMXp.G295S
Missense
SNP
1.000
NDNDND
RBMXL2p.T55I
p.E227K
p.G303K
Missense
Missense
Missense
SNP
SNP
MNP
0.327
0.422
0.329
2-ND
RBP1-
-
-
-
3GainND
RBP2-
-
-
-
3GainND
RBSN-
-
-
-
1LossND
RC3H1-
-
-
-
3GainND
RC3H2-
-
-
-
3GainND
RCC1L-
-
-
-
3GainND
RCL1-
-
-
-
1LossND
RCN3-
-
-
-
1LossND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RDH10-
-
-
-
5AmpND
RDH16p.P298L
Missense
SNP
0.380
2-ND
REC8-
-
-
-
1LossND
RECK-
-
-
-
1LossND
RECQL4-
-
-
-
4GainND
REEP2-
-
-
-
1LossND
REEP5-
-
-
-
1LossND
REEP6-
-
-
-
1LossND
RELB-
-
-
-
1LossND
RELL2-
-
-
-
1LossND
RELNp.D2842N
p.D2652N
p.D1364N
Missense
Missense
Missense
SNP
SNP
SNP
0.366
0.500
0.366
3GainND
REM2-
-
-
-
1LossND
REN-
-
-
-
3GainND
REPIN1-
-
-
-
3GainND
RETN-
-
-
-
1LossND
RETNLB-
-
-
-
3GainND
RETSATp.P292S
Missense
SNP
0.520
2-ND
REV1p.E106K
Missense
SNP
0.430
2-ND
REX1BD-
-
-
-
1LossND
REXO1p.N862K
p.P795S
Missense
Missense
SNP
SNP
0.198
0.279
1LossND
REXO4-
-
-
-
3GainND
RFC2p.E142K
Missense
SNP
0.371
3GainND
RFC4-
-
-
-
3GainND
RFESD-
-
-
-
1LossND
RFK-
-
-
-
3GainND
RFT1-
-
-
-
1LossND
RFTN1-
-
-
-
1LossND
RFWD2p.G532N
Missense
MNP
0.363
NDNDND
RFX1p.S193F
Missense
SNP
0.378
2-ND
RFX2-
-
-
-
1LossND
RFX3-
-
-
-
1LossND
RFX5-
-
-
-
3GainND
RFX6p.E43K
Missense
SNP
0.303
2-ND
RFXANK-
-
-
-
1LossND
RGAG4p.E308K
Missense
SNP
0.806
NDNDND
RGL1-
-
-
-
3GainND
RGMB-
-
-
-
1LossND
RGP1-
-
-
-
1LossND
RGS1-
-
-
-
3GainND
RGS13-
-
-
-
3GainND
RGS14-
-
-
-
1LossND
RGS16-
-
-
-
3GainND
RGS18-
-
-
-
3GainND
RGS2-
-
-
-
3GainND
RGS20-
-
-
-
5AmpND
RGS21-
-
-
-
3GainND
RGS22p.G52E
Missense
SNP
0.248
5AmpND
RGS3p.R459C
Missense
SNP
0.412
3GainND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS7p.P295L
Missense
MNP
0.469
3GainND
RGS7BP-
-
-
-
1LossND
RGS8-
-
-
-
3GainND
RGSL1-
-
-
-
3GainND
RHBDD2-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHDp.G263E
Missense
SNP
0.205
2-ND
RHEB-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHOp.E232K
Missense
SNP
0.254
3GainND
RHOA-
-
-
-
1LossND
RHOBTB3-
-
-
-
1LossND
RHOU-
-
-
-
3GainND
RHPN1-
-
-
-
5AmpND
RIC1-
-
-
-
1LossND
RIDA-
-
-
-
5AmpND
RIF1p.S1149F
Missense
SNP
0.465
2-ND
RIIAD1-
-
-
-
3GainND
RIMS2-
-
-
-
5AmpND
RINT1-
-
-
-
3GainND
RIOK2-
-
-
-
1LossND
RIOX2-
-
-
-
3GainND
RIPK2-
-
-
-
5AmpND
RIPK3-
-
-
-
1LossND
RIPK4p.E351Rfs*72
Frame_Shift_Del
DEL
0.838
2-ND
RIT1-
-
-
-
3GainND
RLN1-
-
-
-
1LossND
RLN2-
-
-
-
1LossND
RMDN1-
-
-
-
5AmpND
RMI1p.G79R
Missense
SNP
0.346
3GainND
RMND5B-
-
-
-
1LossND
RNASE1-
-
-
-
1LossND
RNASE10-
-
-
-
1LossND
RNASE11-
-
-
-
1LossND
RNASE12-
-
-
-
1LossND
RNASE13-
-
-
-
1LossND
RNASE2-
-
-
-
1LossND
RNASE3-
-
-
-
1LossND
RNASE4-
-
-
-
1LossND
RNASE6-
-
-
-
1LossND
RNASE7-
-
-
-
1LossND
RNASE8-
-
-
-
1LossND
RNASE9-
-
-
-
1LossND
RNASEL-
-
-
-
3GainND
RND2p.R90P
Missense
SNP
0.221
2-ND
RNF123-
-
-
-
1LossND
RNF126-
-
-
-
1LossND
RNF13-
-
-
-
3GainND
RNF130-
-
-
-
1LossND
RNF133p.D299N
Missense
SNP
0.359
3GainND
RNF139-
-
-
-
5AmpND
RNF14-
-
-
-
1LossND
RNF145-
-
-
-
1LossND
RNF148-
-
-
-
3GainND
RNF150p.P330L
Missense
SNP
0.527
2-ND
RNF168-
-
-
-
3GainND
RNF180-
-
-
-
1LossND
RNF183-
-
-
-
3GainND
RNF187-
-
-
-
3GainND
RNF19A-
-
-
-
5AmpND
RNF2-
-
-
-
3GainND
RNF20-
-
-
-
3GainND
RNF208-
-
-
-
3GainND
RNF212Bp.G202E
Missense
SNP
0.559
1LossND
RNF216-
-
-
-
3GainND
RNF220p.G405W
Missense
SNP
0.505
2-ND
RNF224-
-
-
-
3GainND
RNF225-
-
-
-
1LossND
RNF31-
-
-
-
1LossND
RNF32-
-
-
-
3GainND
RNF38p.S37N
Missense
SNP
0.702
1LossND
RNF44-
-
-
-
1LossND
RNF6p.P192L
Missense
SNP
0.363
2-ND
RNF7-
-
-
-
3GainND
RNGTTp.H46Y
Missense
SNP
0.769
1LossND
RNPEP-
-
-
-
3GainND
ROBO1-
-
-
-
1LossND
ROBO2-
-
-
-
1LossND
ROBO4p.G674E
p.Q610*
p.P262S
Missense
Nonsense
Missense
SNP
SNP
SNP
0.348
0.462
0.362
2-ND
ROPN1-
-
-
-
3GainND
ROPN1B-
-
-
-
3GainND
ROR2-
-
-
-
3GainND
RORB-
-
-
-
3GainND
RORCp.R232C
Missense
SNP
0.405
3GainND
ROS1p.P495S
p.L436F
Missense
Missense
SNP
SNP
0.444
0.442
2-ND
RP1p.G254E
p.A2064T
p.P1013L
Missense
Missense
Missense
SNP
SNP
SNP
0.294
0.698
0.214
5AmpND
RP11-310K10.1p.G615R
Missense
SNP
0.365
NDNDND
RP1L1p.G1010*
Nonsense
SNP
0.566
2-ND
RP5-1187M17.10p.S437L
p.I403M
Missense
Missense
SNP
SNP
0.225
0.144
NDNDND
RP9-
-
-
-
3GainND
RPA2p.E70K
Missense
SNP
0.190
2-ND
RPA3-
-
-
-
3GainND
RPGRIP1p.T727I
Missense
SNP
0.432
1LossND
RPGRIP1Lp.R251*
p.M118K
Nonsense
Missense
SNP
SNP
0.340
0.591
2-ND
RPH3Ap.E148K
p.G657R
Missense
Missense
SNP
SNP
0.385
0.485
2-ND
RPL10Lp.P47S
Missense
SNP
0.449
2-ND
RPL12-
-
-
-
3GainND
RPL13A-
-
-
-
1LossND
RPL14-
-
-
-
1LossND
RPL15-
-
-
-
1LossND
RPL18-
-
-
-
1LossND
RPL22L1-
-
-
-
3GainND
RPL24-
-
-
-
3GainND
RPL26L1-
-
-
-
1LossND
RPL29-
-
-
-
1LossND
RPL30-
-
-
-
5AmpND
RPL32-
-
-
-
1LossND
RPL35-
-
-
-
3GainND
RPL35A-
-
-
-
3GainND
RPL39L-
-
-
-
3GainND
RPL7-
-
-
-
5AmpND
RPL7A-
-
-
-
3GainND
RPL8-
-
-
-
4GainND
RPN1-
-
-
-
3GainND
RPP14-
-
-
-
1LossND
RPP25L-
-
-
-
1LossND
RPP38p.D238N
Missense
SNP
0.441
2-ND
RPRD1Bp.P103L
Missense
SNP
0.411
2-ND
RPRD2-
-
-
-
3GainND
RPS11-
-
-
-
1LossND
RPS14-
-
-
-
1LossND
RPS15-
-
-
-
1LossND
RPS20-
-
-
-
5AmpND
RPS23-
-
-
-
1LossND
RPS27-
-
-
-
3GainND
RPS28-
-
-
-
1LossND
RPS5-
-
-
-
1LossND
RPS6-
-
-
-
1LossND
RPS6KC1-
-
-
-
3GainND
RPS9-
-
-
-
1LossND
RPSA-
-
-
-
1LossND
RPTN-
-
-
-
3GainND
RPTORp.D451N
Missense
SNP
0.211
2-ND
RPUSD1p.P272L
Missense
SNP
0.565
2-ND
RPUSD2p.S239F
Missense
SNP
0.573
2-ND
RPUSD3-
-
-
-
1LossND
RRAGA-
-
-
-
1LossND
RRAGD-
-
-
-
1LossND
RRAS-
-
-
-
1LossND
RREB1p.P1492L
Missense
SNP
0.140
2-ND
RRHp.S257F
Missense
SNP
0.511
2-ND
RRM2B-
-
-
-
5AmpND
RRNAD1-
-
-
-
3GainND
RRP15-
-
-
-
3GainND
RRP1Bp.P737L
Missense
SNP
0.371
2-ND
RRP9-
-
-
-
1LossND
RRS1-
-
-
-
5AmpND
RSBN1L-
-
-
-
3GainND
RSPH10B-
-
-
-
3GainND
RSPH10B2p.E54K
Missense
SNP
0.355
3GainND
RSPH6A-
-
-
-
1LossND
RSPO2-
-
-
-
5AmpND
RSRC1-
-
-
-
3GainND
RTKN-
-
-
-
1LossND
RTKN2p.R33*
Nonsense
SNP
0.201
2-ND
RTN1p.P769S
Missense
SNP
0.529
2-ND
RTN2-
-
-
-
1LossND
RTN4p.M207F
Missense
MNP
0.330
2-ND
RTP1-
-
-
-
3GainND
RTP2-
-
-
-
3GainND
RTP3-
-
-
-
1LossND
RTP4-
-
-
-
3GainND
RUBCN-
-
-
-
3GainND
RUFY1-
-
-
-
1LossND
RUNDC3Ap.G89E
Missense
SNP
0.649
2-ND
RUNDC3B-
-
-
-
3GainND
RUNX1T1-
-
-
-
5AmpND
RUSC1-
-
-
-
3GainND
RUSC2-
-
-
-
1LossND
RUVBL1-
-
-
-
3GainND
RUVBL2-
-
-
-
1LossND
RXFP4-
-
-
-
3GainND
RXRAp.S43F
Missense
SNP
0.385
3GainND
RXRG-
-
-
-
3GainND
RYBP-
-
-
-
1LossND
RYK-
-
-
-
3GainND
RYR1p.G1764V
Missense
SNP
0.406
2-ND
RYR2p.E1858K
p.R3150K
Missense
Missense
SNP
SNP
0.439
0.634
3GainND
RYR3p.W150*
Nonsense
SNP
0.615
2-ND
S100A1p.P14L
Missense
SNP
0.380
3GainND
S100A10-
-
-
-
3GainND
S100A11-
-
-
-
3GainND
S100A12-
-
-
-
3GainND
S100A13-
-
-
-
3GainND
S100A14-
-
-
-
3GainND
S100A16-
-
-
-
3GainND
S100A2-
-
-
-
3GainND
S100A3-
-
-
-
3GainND
S100A4-
-
-
-
3GainND
S100A5-
-
-
-
3GainND
S100A6-
-
-
-
3GainND
S100A7-
-
-
-
3GainND
S100A7A-
-
-
-
3GainND
S100A7L2-
-
-
-
3GainND
S100A8-
-
-
-
3GainND
S100A9-
-
-
-
3GainND
S100Z-
-
-
-
1LossND
S1PR3-
-
-
-
3GainND
S1PR4-
-
-
-
1LossND
SACM1L-
-
-
-
1LossND
SAE1-
-
-
-
1LossND
SAFB-
-
-
-
1LossND
SAFB2-
-
-
-
1LossND
SALL2-
-
-
-
1LossND
SAMD12-
-
-
-
5AmpND
SAMD3p.E534K
Missense
SNP
0.393
2-ND
SAMD4Bp.S365F
p.P656S
Missense
Missense
SNP
SNP
0.548
0.397
2-ND
SAMD7-
-
-
-
3GainND
SAMD9-
-
-
-
3GainND
SAMD9L-
-
-
-
3GainND
SAP25-
-
-
-
3GainND
SAP30L-
-
-
-
1LossND
SAPCD2-
-
-
-
3GainND
SAR1B-
-
-
-
1LossND
SARDHp.P213F
Missense
MNP
0.224
3GainND
SAT1p.P72L
Missense
SNP
0.819
NDNDND
SATB1-
-
-
-
1LossND
SATB2p.Q409*
Nonsense
SNP
0.508
2-ND
SAXO1-
-
-
-
1LossND
SBDS-
-
-
-
3GainND
SBF2p.D1515N
Missense
SNP
0.553
2-ND
SBK2p.G284S
Missense
SNP
0.373
2-ND
SBNO2p.L1303F
Missense
SNP
0.556
1LossND
SBSPON-
-
-
-
5AmpND
SCAF1p.E492K
p.P812L
p.P1087L
Missense
Missense
Missense
SNP
SNP
SNP
0.408
0.329
0.352
1LossND
SCAI-
-
-
-
3GainND
SCAMP1-
-
-
-
1LossND
SCAMP3-
-
-
-
3GainND
SCAMP4-
-
-
-
1LossND
SCAP-
-
-
-
1LossND
SCCPDHp.P127S
Missense
SNP
0.392
3GainND
SCFD2p.L435F
Missense
SNP
0.494
2-ND
SCG2p.E333K
Missense
SNP
0.469
2-ND
SCGB3A1-
-
-
-
1LossND
SCGB3A2-
-
-
-
1LossND
SCGNp.D201N
Missense
SNP
0.514
2-ND
SCHIP1-
-
-
-
3GainND
SCINp.S180F
Missense
SNP
0.341
3GainND
SCML2p.G314E
Missense
SNP
0.943
NDNDND
SCN10Ap.P1676S
p.L1286F
Missense
Missense
SNP
SNP
0.200
0.297
1LossND
SCN11A-
-
-
-
1LossND
SCN5A-
-
-
-
1LossND
SCN7Ap.S1154F
Missense
SNP
0.491
2-ND
SCNM1-
-
-
-
3GainND
SCRIBp.P1043L
p.A796V
Missense
Missense
SNP
SNP
0.275
0.649
5AmpND
SCRN1-
-
-
-
3GainND
SCRT1-
-
-
-
4GainND
SCX-
-
-
-
3GainND
SCYL3-
-
-
-
3GainND
SDC2-
-
-
-
5AmpND
SDCBP-
-
-
-
5AmpND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDHAF3-
-
-
-
3GainND
SDHC-
-
-
-
3GainND
SDK1-
-
-
-
3GainND
SDR16C5-
-
-
-
5AmpND
SDR39U1-
-
-
-
1LossND
SEC13-
-
-
-
1LossND
SEC16A-
-
-
-
3GainND
SEC16B-
-
-
-
3GainND
SEC22A-
-
-
-
3GainND
SEC22C-
-
-
-
1LossND
SEC23Ap.Q655*
Nonsense
SNP
0.432
2-ND
SEC24Ap.P213Lfs*9
Frame_Shift_Del
DEL
0.384
1LossND
SEC24Cp.E343K
Missense
SNP
0.477
2-ND
SEC61A1-
-
-
-
3GainND
SEC61B-
-
-
-
3GainND
SEC61G-
-
-
-
3GainND
SEC62-
-
-
-
3GainND
SECISBP2-
-
-
-
3GainND
SELE-
-
-
-
3GainND
SELENBP1-
-
-
-
3GainND
SELENOK-
-
-
-
1LossND
SELENOT-
-
-
-
3GainND
SELENOW-
-
-
-
1LossND
SELL-
-
-
-
3GainND
SELPp.E302K
Missense
SNP
0.408
3GainND
SEM1-
-
-
-
3GainND
SEMA3A-
-
-
-
3GainND
SEMA3B-
-
-
-
1LossND
SEMA3C-
-
-
-
3GainND
SEMA3D-
-
-
-
3GainND
SEMA3E-
-
-
-
3GainND
SEMA3F-
-
-
-
1LossND
SEMA3G-
-
-
-
1LossND
SEMA4A-
-
-
-
3GainND
SEMA4Dp.S9F
Missense
SNP
0.109
3GainND
SEMA4Gp.L646S
Missense
SNP
0.447
2-ND
SEMA5B-
-
-
-
3GainND
SEMA6A-
-
-
-
1LossND
SEMA6B-
-
-
-
1LossND
SEMA6C-
-
-
-
3GainND
SENP2-
-
-
-
3GainND
SENP5-
-
-
-
3GainND
SENP7-
-
-
-
3GainND
SEPP1p.S342F
Missense
SNP
0.425
NDNDND
SEPT14-
-
-
-
3GainND
SEPT5p.S4F
Missense
SNP
0.385
2-ND
SEPT7-
-
-
-
3GainND
SEPT8-
-
-
-
1LossND
SERF1A-
-
-
-
1LossND
SERF1B-
-
-
-
1LossND
SERINC5p.P455L
Missense
SNP
0.416
1LossND
SERP1-
-
-
-
3GainND
SERPINA1p.E229K
Missense
SNP
0.527
2-ND
SERPINA10p.G147E
Missense
SNP
0.464
2-ND
SERPINA6p.E154K
Missense
SNP
0.409
2-ND
SERPINC1-
-
-
-
3GainND
SERPINE1-
-
-
-
3GainND
SERPINI1-
-
-
-
3GainND
SERPINI2-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SESN2p.G21S
Missense
SNP
0.303
2-ND
SET-
-
-
-
3GainND
SETD2-
-
-
-
1LossND
SETD5-
-
-
-
1LossND
SETD9-
-
-
-
1LossND
SETDB1-
-
-
-
3GainND
SETMAR-
-
-
-
1LossND
SETX-
-
-
-
3GainND
SF3A2-
-
-
-
1LossND
SF3B2p.D715N
Missense
SNP
0.419
2-ND
SF3B4-
-
-
-
3GainND
SFMBT1-
-
-
-
1LossND
SFNp.E75K
Missense
SNP
0.521
2-ND
SFRP4-
-
-
-
3GainND
SFT2D2-
-
-
-
3GainND
SFXN1-
-
-
-
1LossND
SGCD-
-
-
-
1LossND
SGCE-
-
-
-
3GainND
SGK3-
-
-
-
5AmpND
SGO1-
-
-
-
1LossND
SGTA-
-
-
-
1LossND
SGTB-
-
-
-
1LossND
SH2B2-
-
-
-
3GainND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH2D3Ap.P47L
Missense
SNP
0.478
1LossND
SH2D3C-
-
-
-
3GainND
SH3BP1p.S544F
Missense
SNP
0.390
2-ND
SH3BP5-
-
-
-
1LossND
SH3BP5L-
-
-
-
3GainND
SH3D19p.G286E
Missense
SNP
0.503
2-ND
SH3GL1-
-
-
-
1LossND
SH3GL2-
-
-
-
1LossND
SH3GLB2-
-
-
-
3GainND
SH3PXD2B-
-
-
-
1LossND
SH3RF2-
-
-
-
1LossND
SH3RF3p.X525_splice
Splice_Site
SNP
0.482
2-ND
SH3TC2-
-
-
-
1LossND
SH3YL1p.R71S
Missense
SNP
0.534
2-ND
SHANK1-
-
-
-
1LossND
SHANK2p.P960S
p.L494F
Missense
Missense
SNP
SNP
0.422
0.331
2-ND
SHARPIN-
-
-
-
5AmpND
SHB-
-
-
-
1LossND
SHC1-
-
-
-
3GainND
SHC2p.P460S
Missense
SNP
0.295
1LossND
SHC3-
-
-
-
3GainND
SHCBP1L-
-
-
-
3GainND
SHD-
-
-
-
1LossND
SHE-
-
-
-
3GainND
SHH-
-
-
-
3GainND
SHISA4-
-
-
-
3GainND
SHISA5-
-
-
-
1LossND
SHISA6p.G390D
Missense
SNP
0.654
2-ND
SHISAL2B-
-
-
-
1LossND
SHKBP1p.P685S
Missense
SNP
0.440
2-ND
SHLD3-
-
-
-
1LossND
SHOX2-
-
-
-
3GainND
SHQ1-
-
-
-
1LossND
SHROOM1-
-
-
-
1LossND
SHROOM3p.P273L
Missense
SNP
0.377
2-ND
SIp.C1410S
Missense
SNP
0.265
3GainND
SIAH2-
-
-
-
3GainND
SIDT1p.Q218R
Missense
SNP
0.612
3GainND
SIDT2p.Q577*
Nonsense
SNP
0.449
2-ND
SIGLEC1p.N99S
Missense
SNP
0.498
2-ND
SIGLEC10p.G259R
Missense
SNP
0.508
1LossND
SIGLEC11-
-
-
-
1LossND
SIGLEC12-
-
-
-
1LossND
SIGLEC14p.G310E
Missense
SNP
0.372
1LossND
SIGLEC5-
-
-
-
1LossND
SIGLEC6-
-
-
-
1LossND
SIGLEC7-
-
-
-
1LossND
SIGLEC8-
-
-
-
1LossND
SIGLEC9-
-
-
-
1LossND
SIGLECL1-
-
-
-
1LossND
SIGMAR1-
-
-
-
1LossND
SIK3p.P43S
Missense
SNP
0.402
2-ND
SIL1-
-
-
-
1LossND
SIM1p.K708E
Missense
SNP
0.320
2-ND
SIMC1-
-
-
-
1LossND
SIN3Ap.P589S
Missense
SNP
0.349
2-ND
SIPA1p.E199K
Missense
SNP
0.483
2-ND
SIPA1L2-
-
-
-
3GainND
SIRT6-
-
-
-
1LossND
SIT1-
-
-
-
1LossND
SIX5-
-
-
-
1LossND
SKA3p.P284L
Missense
SNP
0.125
2-ND
SKAP2-
-
-
-
3GainND
SKIL-
-
-
-
3GainND
SKP1-
-
-
-
1LossND
SLA-
-
-
-
5AmpND
SLAIN1p.G583E
Missense
SNP
0.310
2-ND
SLAMF1-
-
-
-
3GainND
SLAMF6p.E36K
Missense
SNP
0.504
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8-
-
-
-
3GainND
SLAMF9-
-
-
-
3GainND
SLC10A5-
-
-
-
5AmpND
SLC12A2p.L322I
Missense
SNP
0.304
1LossND
SLC12A3p.G316D
Missense
SNP
0.569
2-ND
SLC12A6p.F899L
p.S840F
Missense
Missense
SNP
SNP
0.314
0.507
2-ND
SLC12A8-
-
-
-
3GainND
SLC12A9-
-
-
-
3GainND
SLC13A1p.V9I
Missense
SNP
0.393
3GainND
SLC13A4-
-
-
-
3GainND
SLC15A2-
-
-
-
3GainND
SLC15A5p.C253*
Nonsense
SNP
0.326
2-ND
SLC16A14p.R69Pfs*25
Frame_Shift_Del
DEL
0.268
2-ND
SLC17A7-
-
-
-
1LossND
SLC19A2-
-
-
-
3GainND
SLC1A1-
-
-
-
1LossND
SLC1A5-
-
-
-
1LossND
SLC22A13-
-
-
-
1LossND
SLC22A14-
-
-
-
1LossND
SLC22A15p.L240F
Missense
SNP
0.357
2-ND
SLC22A17-
-
-
-
1LossND
SLC22A4-
-
-
-
1LossND
SLC22A5-
-
-
-
1LossND
SLC22A8p.E505K
Missense
SNP
0.452
2-ND
SLC23A1-
-
-
-
1LossND
SLC24A2-
-
-
-
1LossND
SLC25A13-
-
-
-
3GainND
SLC25A20-
-
-
-
1LossND
SLC25A23-
-
-
-
1LossND
SLC25A25-
-
-
-
3GainND
SLC25A26-
-
-
-
1LossND
SLC25A32-
-
-
-
5AmpND
SLC25A36-
-
-
-
3GainND
SLC25A38-
-
-
-
1LossND
SLC25A40-
-
-
-
3GainND
SLC25A41-
-
-
-
1LossND
SLC25A42-
-
-
-
1LossND
SLC25A44-
-
-
-
3GainND
SLC25A46-
-
-
-
1LossND
SLC25A47p.E156K
Missense
SNP
0.447
2-ND
SLC25A48-
-
-
-
1LossND
SLC25A51-
-
-
-
1LossND
SLC26A2-
-
-
-
1LossND
SLC26A3-
-
-
-
3GainND
SLC26A4-
-
-
-
3GainND
SLC26A5-
-
-
-
3GainND
SLC26A6-
-
-
-
1LossND
SLC26A7p.A67T
Missense
SNP
0.270
5AmpND
SLC26A9-
-
-
-
3GainND
SLC27A3-
-
-
-
3GainND
SLC27A4p.P456L
Missense
SNP
0.413
3GainND
SLC27A5-
-
-
-
1LossND
SLC27A6-
-
-
-
1LossND
SLC28A3-
-
-
-
3GainND
SLC29A1p.P66S
Missense
SNP
0.461
2-ND
SLC29A4-
-
-
-
3GainND
SLC2A11p.P466L
Missense
MNP
0.429
2-ND
SLC2A2p.G186E
Missense
SNP
0.605
3GainND
SLC2A3p.P385S
Missense
SNP
0.401
2-ND
SLC2A6-
-
-
-
3GainND
SLC2A8-
-
-
-
3GainND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC30A5-
-
-
-
1LossND
SLC30A8-
-
-
-
5AmpND
SLC31A1-
-
-
-
3GainND
SLC31A2-
-
-
-
3GainND
SLC33A1p.E283K
Missense
SNP
0.281
3GainND
SLC34A1-
-
-
-
1LossND
SLC34A3-
-
-
-
3GainND
SLC35A4-
-
-
-
1LossND
SLC35A5-
-
-
-
3GainND
SLC35B4-
-
-
-
3GainND
SLC35D2-
-
-
-
3GainND
SLC35E2p.I118N
Missense
SNP
0.147
NDNDND
SLC35F3-
-
-
-
3GainND
SLC35F4p.G267R
Missense
SNP
0.424
2-ND
SLC35G2-
-
-
-
3GainND
SLC36A1-
-
-
-
1LossND
SLC36A2-
-
-
-
1LossND
SLC36A3p.P390L
Missense
MNP
0.360
1LossND
SLC37A3-
-
-
-
3GainND
SLC38A3-
-
-
-
1LossND
SLC38A9-
-
-
-
1LossND
SLC39A1-
-
-
-
3GainND
SLC39A2-
-
-
-
1LossND
SLC39A3-
-
-
-
1LossND
SLC39A4-
-
-
-
4GainND
SLC3A2p.A547V
Missense
SNP
0.436
2-ND
SLC41A1-
-
-
-
3GainND
SLC41A3-
-
-
-
3GainND
SLC44A1-
-
-
-
3GainND
SLC45A1p.D465N
Missense
SNP
0.455
2-ND
SLC45A3-
-
-
-
3GainND
SLC45A4-
-
-
-
5AmpND
SLC46A2-
-
-
-
3GainND
SLC4A2-
-
-
-
3GainND
SLC4A4p.P772L
Missense
SNP
0.348
2-ND
SLC4A5-
-
-
-
1LossND
SLC4A7-
-
-
-
1LossND
SLC4A9-
-
-
-
1LossND
SLC50A1-
-
-
-
3GainND
SLC51A-
-
-
-
3GainND
SLC52A2-
-
-
-
4GainND
SLC5A4p.E618K
Missense
SNP
0.395
2-ND
SLC6A1-
-
-
-
1LossND
SLC6A11-
-
-
-
1LossND
SLC6A16-
-
-
-
1LossND
SLC6A20-
-
-
-
1LossND
SLC6A6-
-
-
-
1LossND
SLC6A7-
-
-
-
1LossND
SLC7A13-
-
-
-
5AmpND
SLC7A14p.S90F
Missense
SNP
0.253
3GainND
SLC7A6p.G461E
Missense
SNP
0.595
2-ND
SLC7A7-
-
-
-
1LossND
SLC7A8-
-
-
-
1LossND
SLC7A9p.P414H
Missense
SNP
0.487
2-ND
SLC8A1p.R267Q
Missense
SNP
0.352
2-ND
SLC8A2p.G8R
Missense
SNP
0.353
1LossND
SLC8A3p.F464L
p.L89F
Missense
Missense
SNP
SNP
0.432
0.436
2-ND
SLC9A1p.V22M
Missense
SNP
0.518
2-ND
SLC9A9-
-
-
-
3GainND
SLC9C1-
-
-
-
3GainND
SLC9C2-
-
-
-
3GainND
SLCO1B1p.G159E
Missense
SNP
0.391
2-ND
SLCO2A1-
-
-
-
3GainND
SLCO4A1p.W311*;p.V312I
Nonsense
MNP
0.456
2-ND
SLCO4C1-
-
-
-
1LossND
SLCO5A1p.R191Q
Missense
SNP
0.257
5AmpND
SLCO6A1-
-
-
-
1LossND
SLF1-
-
-
-
1LossND
SLF2p.G922D
Missense
SNP
0.394
2-ND
SLIT2p.K1425M
Missense
SNP
0.451
2-ND
SLIT3-
-
-
-
1LossND
SLITRK3-
-
-
-
3GainND
SLMAP-
-
-
-
1LossND
SLU7-
-
-
-
1LossND
SLURP1-
-
-
-
5AmpND
SLURP2-
-
-
-
5AmpND
SMAD3p.Q354H
Missense
SNP
0.342
2-ND
SMAD5-
-
-
-
1LossND
SMARCA2-
-
-
-
1LossND
SMARCA4p.P265L
Missense
SNP
0.397
2-ND
SMARCC1-
-
-
-
1LossND
SMARCD3-
-
-
-
3GainND
SMC1Bp.E787*
Nonsense
SNP
0.457
2-ND
SMC2-
-
-
-
3GainND
SMC4-
-
-
-
3GainND
SMC5-
-
-
-
3GainND
SMC6p.P517S
Missense
SNP
0.523
2-ND
SMCO1-
-
-
-
3GainND
SMCP-
-
-
-
3GainND
SMG5-
-
-
-
3GainND
SMG7-
-
-
-
3GainND
SMG8p.P662S
Missense
SNP
0.614
2-ND
SMIM15-
-
-
-
1LossND
SMIM17p.E79K
Missense
SNP
0.226
1LossND
SMIM23-
-
-
-
1LossND
SMIM24-
-
-
-
1LossND
SMIM27-
-
-
-
1LossND
SMIM3-
-
-
-
1LossND
SMIM30-
-
-
-
3GainND
SMIM32-
-
-
-
1LossND
SMIM33-
-
-
-
1LossND
SMIM4-
-
-
-
1LossND
SMKR1-
-
-
-
3GainND
SMN1-
-
-
-
1LossND
SMN2-
-
-
-
1LossND
SMO-
-
-
-
3GainND
SMU1-
-
-
-
1LossND
SMURF1-
-
-
-
3GainND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SNAI2-
-
-
-
5AmpND
SNAP47-
-
-
-
3GainND
SNAP91p.P893S
Missense
SNP
0.347
2-ND
SNAPC2-
-
-
-
1LossND
SNAPC3-
-
-
-
1LossND
SNAPC4-
-
-
-
3GainND
SNAPIN-
-
-
-
3GainND
SNCAIP-
-
-
-
1LossND
SNCB-
-
-
-
1LossND
SND1-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNRK-
-
-
-
1LossND
SNRNP200p.P1047S
Missense
SNP
0.167
2-ND
SNRNP27p.G146R
Missense
SNP
0.343
2-ND
SNRNP70-
-
-
-
1LossND
SNRPD2-
-
-
-
1LossND
SNRPE-
-
-
-
3GainND
SNTB1-
-
-
-
5AmpND
SNTG1-
-
-
-
5AmpND
SNTN-
-
-
-
1LossND
SNX10-
-
-
-
3GainND
SNX13-
-
-
-
3GainND
SNX16-
-
-
-
5AmpND
SNX18-
-
-
-
1LossND
SNX2-
-
-
-
1LossND
SNX24-
-
-
-
1LossND
SNX27-
-
-
-
3GainND
SNX30-
-
-
-
3GainND
SNX31-
-
-
-
5AmpND
SNX4-
-
-
-
3GainND
SNX8-
-
-
-
3GainND
SOAT1-
-
-
-
3GainND
SOHLH1-
-
-
-
3GainND
SORBS2p.L391F
Missense
SNP
0.431
2-ND
SOSTDC1-
-
-
-
3GainND
SOWAHA-
-
-
-
1LossND
SOX1p.P116S
Missense
SNP
0.374
2-ND
SOX10p.E18K
Missense
SNP
0.430
2-ND
SOX11p.E9A
p.E103D
Missense
Missense
SNP
SNP
0.469
0.500
2-ND
SOX13-
-
-
-
3GainND
SOX14-
-
-
-
3GainND
SOX15p.P45L
Missense
SNP
0.227
2-ND
SOX17-
-
-
-
5AmpND
SOX2-
-
-
-
3GainND
SOX3p.G233D
Missense
SNP
0.717
NDNDND
SOX30-
-
-
-
1LossND
SOX9p.R394Q
Missense
SNP
0.186
2-ND
SP140p.P60S
Missense
SNP
0.526
2-ND
SP4-
-
-
-
3GainND
SP7p.P207L
Missense
SNP
0.426
2-ND
SP8-
-
-
-
3GainND
SPAAR-
-
-
-
1LossND
SPACA4-
-
-
-
1LossND
SPACA6-
-
-
-
1LossND
SPACA9-
-
-
-
3GainND
SPAG1-
-
-
-
5AmpND
SPAG11Bp.E123K
Missense
SNP
0.104
2-ND
SPAG16p.T411S
Missense
SNP
0.355
2-ND
SPAG8-
-
-
-
1LossND
SPAG9p.G270S
Missense
SNP
0.182
2-ND
SPAM1-
-
-
-
3GainND
SPARC-
-
-
-
1LossND
SPATA12-
-
-
-
1LossND
SPATA13p.S113F
Missense
SNP
0.369
2-ND
SPATA16-
-
-
-
3GainND
SPATA17-
-
-
-
3GainND
SPATA2p.R465C
Missense
SNP
0.331
2-ND
SPATA20p.P96S
Missense
SNP
0.587
2-ND
SPATA24-
-
-
-
1LossND
SPATA31A1-
-
-
-
1LossND
SPATA31A3-
-
-
-
3GainND
SPATA31A5-
-
-
-
1LossND
SPATA31A7-
-
-
-
1LossND
SPATA31D1p.S273L
Missense
SNP
0.459
3GainND
SPATA31D3-
-
-
-
3GainND
SPATA31D4-
-
-
-
3GainND
SPATA31E1-
-
-
-
3GainND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPATA48-
-
-
-
3GainND
SPATA6p.S230P
Missense
SNP
0.299
2-ND
SPATA6L-
-
-
-
1LossND
SPATA9-
-
-
-
1LossND
SPATC1-
-
-
-
5AmpND
SPCS1-
-
-
-
1LossND
SPDEFp.G266D
Missense
SNP
0.825
2-ND
SPDL1-
-
-
-
1LossND
SPDYE1-
-
-
-
3GainND
SPDYE3-
-
-
-
3GainND
SPDYE4p.P213S
Missense
SNP
0.237
2-ND
SPDYE6-
-
-
-
3GainND
SPEGp.S313F
Missense
SNP
0.455
2-ND
SPENp.A983T
p.P2940S
Missense
Missense
SNP
SNP
0.562
0.557
2-ND
SPG7p.S257F
Missense
SNP
0.375
2-ND
SPHAR-
-
-
-
3GainND
SPHK2-
-
-
-
1LossND
SPIB-
-
-
-
1LossND
SPICE1-
-
-
-
3GainND
SPIDR-
-
-
-
5AmpND
SPIN1-
-
-
-
3GainND
SPINK1-
-
-
-
1LossND
SPINK13-
-
-
-
1LossND
SPINK14-
-
-
-
1LossND
SPINK4-
-
-
-
1LossND
SPINK5-
-
-
-
1LossND
SPINK6-
-
-
-
1LossND
SPINK7-
-
-
-
1LossND
SPINK8-
-
-
-
1LossND
SPINK9-
-
-
-
1LossND
SPIRE1p.R751K
Missense
SNP
0.423
2-ND
SPNp.P204S
Missense
SNP
0.361
2-ND
SPOCK1-
-
-
-
1LossND
SPON1p.D475Pfs*2
p.W231*
Frame_Shift_Del
Nonsense
DEL
SNP
0.304
0.391
2-ND
SPOUT1-
-
-
-
3GainND
SPPL2Bp.P82S
p.P126S
Missense
Missense
SNP
SNP
0.581
0.219
1LossND
SPRp.E2K
Missense
SNP
0.348
2-ND
SPRR1A-
-
-
-
3GainND
SPRR1B-
-
-
-
3GainND
SPRR3-
-
-
-
3GainND
SPRR4-
-
-
-
3GainND
SPRTN-
-
-
-
3GainND
SPRY4-
-
-
-
1LossND
SPSB1p.Q82*
p.S176F
Nonsense
Missense
SNP
SNP
0.537
0.327
2-ND
SPSB4-
-
-
-
3GainND
SPTA1p.P1254S
p.E671K
Missense
Missense
SNP
SNP
0.367
0.369
3GainND
SPTAN1-
-
-
-
3GainND
SPTBp.S662F
Missense
SNP
0.442
2-ND
SPTBN1p.E741K
Missense
SNP
0.476
2-ND
SPTBN2p.E1957K
p.A1617V
Missense
Missense
SNP
SNP
0.338
0.400
2-ND
SPTLC1-
-
-
-
3GainND
SPTSSB-
-
-
-
3GainND
SPZ1-
-
-
-
1LossND
SQLE-
-
-
-
5AmpND
SQSTM1-
-
-
-
1LossND
SRA1-
-
-
-
1LossND
SREK1-
-
-
-
1LossND
SREK1IP1-
-
-
-
1LossND
SRFBP1-
-
-
-
1LossND
SRGAP1p.E72K
Missense
SNP
0.444
2-ND
SRGAP2-
-
-
-
3GainND
SRGAP3-
-
-
-
1LossND
SRI-
-
-
-
3GainND
SRP19-
-
-
-
1LossND
SRP9-
-
-
-
3GainND
SRPK1p.R18Q
Missense
SNP
0.198
2-ND
SRPK2-
-
-
-
3GainND
SRPRB-
-
-
-
3GainND
SRRM2p.R2742W
Missense
SNP
0.221
2-ND
SRRM3-
-
-
-
3GainND
SRRT-
-
-
-
3GainND
SRSF12-
-
-
-
1LossND
SS18L2-
-
-
-
1LossND
SSBP1-
-
-
-
3GainND
SSBP2-
-
-
-
1LossND
SSBP4-
-
-
-
1LossND
SSC4D-
-
-
-
3GainND
SSC5Dp.N779S
Missense
SNP
0.429
2-ND
SSMEM1-
-
-
-
3GainND
SSNA1-
-
-
-
3GainND
SSPOp.P2053S
Missense
SNP
0.431
3GainND
SSR2-
-
-
-
3GainND
SSR3-
-
-
-
3GainND
SST-
-
-
-
3GainND
SSU72P8-
-
-
-
3GainND
SSUH2-
-
-
-
1LossND
ST18p.D449N
p.E232K
Missense
Missense
SNP
SNP
0.207
0.219
5AmpND
ST3GAL1-
-
-
-
5AmpND
ST3GAL6-
-
-
-
3GainND
ST6GAL1-
-
-
-
3GainND
ST6GALNAC1p.N84T
Missense
SNP
0.225
2-ND
ST6GALNAC4-
-
-
-
3GainND
ST6GALNAC6-
-
-
-
3GainND
ST7-
-
-
-
3GainND
ST7Lp.R57K
Missense
SNP
0.508
2-ND
ST8SIA4-
-
-
-
1LossND
STAB1-
-
-
-
1LossND
STAC-
-
-
-
1LossND
STAG1-
-
-
-
3GainND
STAG3-
-
-
-
3GainND
STAMBP-
-
-
-
1LossND
STAP2-
-
-
-
1LossND
STARD3NL-
-
-
-
3GainND
STARD4-
-
-
-
1LossND
STAT5Ap.P725H
Missense
SNP
0.138
2-ND
STAU2-
-
-
-
5AmpND
STC2-
-
-
-
1LossND
STEAP1-
-
-
-
3GainND
STEAP1B-
-
-
-
3GainND
STEAP2-
-
-
-
3GainND
STEAP4-
-
-
-
3GainND
STIMATE-
-
-
-
1LossND
STK10-
-
-
-
1LossND
STK11-
-
-
-
1LossND
STK17A-
-
-
-
3GainND
STK3-
-
-
-
5AmpND
STK31-
-
-
-
3GainND
STK32A-
-
-
-
1LossND
STKLD1-
-
-
-
3GainND
STMN2-
-
-
-
5AmpND
STMN3p.P61S
Missense
SNP
0.478
2-ND
STMP1-
-
-
-
3GainND
STOMp.D89H
Missense
SNP
0.272
3GainND
STOML2-
-
-
-
1LossND
STON1-GTF2A1Lp.R1041W
Missense
SNP
0.375
2-ND
STOX2p.E309K
p.E439*
p.D623N
p.E649K
p.E696D
Missense
Nonsense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.169
0.163
0.226
0.190
0.195
2-ND
STPG3-
-
-
-
3GainND
STRA8-
-
-
-
3GainND
STRBP-
-
-
-
3GainND
STRCp.G135E
Missense
SNP
0.308
2-ND
STRIP2-
-
-
-
3GainND
STRN4-
-
-
-
1LossND
STT3B-
-
-
-
1LossND
STUM-
-
-
-
3GainND
STX11p.P284L
Missense
SNP
0.306
2-ND
STX17-
-
-
-
3GainND
STX19-
-
-
-
3GainND
STX1A-
-
-
-
3GainND
STX4p.P48S
Missense
SNP
0.469
2-ND
STX6-
-
-
-
3GainND
STXBP1-
-
-
-
3GainND
STXBP2p.Q103*
Nonsense
SNP
0.535
1LossND
STXBP5L-
-
-
-
3GainND
STXBP6-
-
-
-
1LossND
STYXL1-
-
-
-
3GainND
SUCLG2-
-
-
-
1LossND
SUCNR1-
-
-
-
3GainND
SUCO-
-
-
-
3GainND
SUGCT-
-
-
-
3GainND
SUGP1p.A285V
Missense
SNP
0.314
1LossND
SUGP2-
-
-
-
1LossND
SULF1-
-
-
-
5AmpND
SULT1C3p.D204N
Missense
SNP
0.369
2-ND
SULT2A1-
-
-
-
1LossND
SULT2B1-
-
-
-
1LossND
SULT4A1p.P105L
Missense
SNP
0.434
2-ND
SULT6B1p.E53K
Missense
SNP
0.514
2-ND
SUMF1-
-
-
-
1LossND
SUMF2-
-
-
-
3GainND
SUN1-
-
-
-
3GainND
SUN3-
-
-
-
3GainND
SUPT16H-
-
-
-
1LossND
SURF1-
-
-
-
3GainND
SURF2-
-
-
-
3GainND
SURF4-
-
-
-
3GainND
SURF6-
-
-
-
3GainND
SUSD1-
-
-
-
3GainND
SUSD3-
-
-
-
3GainND
SUSD4-
-
-
-
3GainND
SUSD5-
-
-
-
1LossND
SUZ12p.P326L
Missense
MNP
0.607
2-ND
SV2A-
-
-
-
3GainND
SV2C-
-
-
-
1LossND
SVEP1p.P2946S
Missense
SNP
0.261
3GainND
SVILp.R689Q
Missense
SNP
0.458
2-ND
SVOPL-
-
-
-
3GainND
SWI5-
-
-
-
3GainND
SWT1-
-
-
-
3GainND
SYBUp.S653L
Missense
SNP
0.231
5AmpND
SYK-
-
-
-
3GainND
SYMPKp.S870F
Missense
SNP
0.427
1LossND
SYN2-
-
-
-
1LossND
SYNGR4-
-
-
-
1LossND
SYNJ2p.W800*
Nonsense
SNP
0.384
2-ND
SYNPO-
-
-
-
1LossND
SYNPR-
-
-
-
1LossND
SYPL1-
-
-
-
3GainND
SYT1p.P55L
Missense
SNP
0.467
2-ND
SYT11-
-
-
-
3GainND
SYT14-
-
-
-
3GainND
SYT2p.X307_splice
Splice_Site
SNP
0.351
3GainND
SYT3-
-
-
-
1LossND
SYT7p.S411F
Missense
SNP
0.376
2-ND
SYTL2p.S934F
Missense
SNP
0.344
2-ND
TAAR6p.S205F
Missense
SNP
0.335
2-ND
TAC1-
-
-
-
3GainND
TACC3p.G130R
Missense
SNP
0.494
2-ND
TADA1-
-
-
-
3GainND
TADA3-
-
-
-
1LossND
TAF1A-
-
-
-
3GainND
TAF1Lp.D370N
Missense
SNP
0.801
1LossND
TAF2-
-
-
-
5AmpND
TAF3p.P803L
Missense
SNP
0.578
2-ND
TAF4p.P500L
Missense
SNP
0.469
2-ND
TAF4Bp.I380N
Missense
SNP
0.451
2-ND
TAF5L-
-
-
-
3GainND
TAF6p.A669T
Missense
SNP
0.480
3GainND
TAF6Lp.D343H
Missense
SNP
0.389
2-ND
TAF9p.P103S
Missense
SNP
0.405
1LossND
TAGLNp.Q96E
Missense
SNP
0.235
2-ND
TAGLN2-
-
-
-
3GainND
TAGLN3-
-
-
-
3GainND
TAL2-
-
-
-
3GainND
TAMM41-
-
-
-
1LossND
TARBP1-
-
-
-
3GainND
TARM1-
-
-
-
1LossND
TARS2-
-
-
-
3GainND
TAS1R1p.T594I
Missense
SNP
0.469
2-ND
TAS1R2p.G677E
Missense
SNP
0.568
2-ND
TAS2R14p.E306K
Missense
SNP
0.436
2-ND
TAS2R16-
-
-
-
3GainND
TAS2R3-
-
-
-
3GainND
TAS2R38-
-
-
-
3GainND
TAS2R39-
-
-
-
3GainND
TAS2R4-
-
-
-
3GainND
TAS2R40-
-
-
-
3GainND
TAS2R41-
-
-
-
3GainND
TAS2R5-
-
-
-
3GainND
TAS2R60-
-
-
-
3GainND
TATDN1-
-
-
-
5AmpND
TATDN2-
-
-
-
1LossND
TATDN3-
-
-
-
3GainND
TAX1BP1-
-
-
-
3GainND
TBC1D1p.R289*
Nonsense
SNP
0.537
2-ND
TBC1D10Bp.S70F
Missense
SNP
0.380
2-ND
TBC1D12p.P328S
Missense
SNP
0.472
2-ND
TBC1D13p.X101_splice
Splice_Site
SNP
0.522
3GainND
TBC1D17-
-
-
-
1LossND
TBC1D2-
-
-
-
3GainND
TBC1D22Ap.W2*
Nonsense
SNP
0.417
2-ND
TBC1D23-
-
-
-
3GainND
TBC1D31-
-
-
-
5AmpND
TBC1D4p.T1147M
Missense
SNP
0.288
2-ND
TBC1D5-
-
-
-
1LossND
TBC1D9p.W677*
Nonsense
SNP
0.378
2-ND
TBC1D9B-
-
-
-
1LossND
TBCA-
-
-
-
1LossND
TBCCD1-
-
-
-
3GainND
TBCE-
-
-
-
3GainND
TBCKp.X200_splice
p.D22N
Splice_Site
Missense
SNP
SNP
0.455
0.356
2-ND
TBL1XR1-
-
-
-
3GainND
TBL2-
-
-
-
3GainND
TBPp.E157K
Missense
SNP
0.538
2-ND
TBRG4-
-
-
-
3GainND
TBX18p.D279N
Missense
SNP
0.342
2-ND
TBX19-
-
-
-
3GainND
TBX20-
-
-
-
3GainND
TBX22p.N490S
Missense
SNP
0.836
NDNDND
TBXA2R-
-
-
-
1LossND
TBXAS1-
-
-
-
3GainND
TCAF1-
-
-
-
3GainND
TCAF2-
-
-
-
3GainND
TCAIM-
-
-
-
1LossND
TCEA1-
-
-
-
5AmpND
TCEAL2p.R140S
Missense
SNP
0.781
NDNDND
TCERG1-
-
-
-
1LossND
TCERG1Lp.A241V
Missense
SNP
0.437
2-ND
TCF24-
-
-
-
5AmpND
TCF3-
-
-
-
1LossND
TCF7-
-
-
-
1LossND
TCF7L2p.P552L
Missense
SNP
0.340
2-ND
TCHH-
-
-
-
3GainND
TCHHL1-
-
-
-
3GainND
TCOF1-
-
-
-
1LossND
TCP11X2p.N185K
Missense
SNP
0.405
NDNDND
TCTA-
-
-
-
1LossND
TCTEX1D2-
-
-
-
3GainND
TDGF1-
-
-
-
1LossND
TDRD10-
-
-
-
3GainND
TDRD5p.G293E
Missense
SNP
0.496
3GainND
TDRD7p.P40S
Missense
SNP
0.492
3GainND
TDRKH-
-
-
-
3GainND
TEAD2p.E25K
Missense
SNP
0.343
1LossND
TECPR1-
-
-
-
3GainND
TECPR2p.M804I
Missense
SNP
0.365
2-ND
TEDDM1-
-
-
-
3GainND
TEK-
-
-
-
1LossND
TENM2-
-
-
-
1LossND
TENM4p.S454F
Missense
SNP
0.423
2-ND
TENT2-
-
-
-
1LossND
TEP1-
-
-
-
1LossND
TERF1-
-
-
-
5AmpND
TES-
-
-
-
3GainND
TESK1-
-
-
-
1LossND
TET1p.P266L
Missense
SNP
0.368
2-ND
TET3p.P1617L
Missense
SNP
0.466
1LossND
TEX10-
-
-
-
3GainND
TEX14p.T1208I
Missense
SNP
0.609
2-ND
TEX15p.S1500F
p.E511K
Missense
Missense
SNP
SNP
0.282
0.282
2-ND
TEX264-
-
-
-
1LossND
TEX35-
-
-
-
3GainND
TEX43-
-
-
-
1LossND
TEX45-
-
-
-
1LossND
TEX47-
-
-
-
3GainND
TEX48-
-
-
-
3GainND
TEX50-
-
-
-
3GainND
TF-
-
-
-
3GainND
TFAP2Dp.G262S
Missense
SNP
0.308
2-ND
TFB2M-
-
-
-
3GainND
TFDP2-
-
-
-
3GainND
TFEC-
-
-
-
3GainND
TFGp.P265S
Missense
SNP
0.707
3GainND
TFPI2-
-
-
-
3GainND
TFPT-
-
-
-
1LossND
TFR2-
-
-
-
3GainND
TFRC-
-
-
-
3GainND
TGp.W1368*
Nonsense
SNP
0.125
5AmpND
TGFB2-
-
-
-
3GainND
TGFBI-
-
-
-
1LossND
TGFBR1-
-
-
-
3GainND
TGFBR2-
-
-
-
1LossND
TGFBR3L-
-
-
-
1LossND
TGM1-
-
-
-
1LossND
TGM4-
-
-
-
1LossND
TGS1-
-
-
-
5AmpND
THAP5-
-
-
-
3GainND
THAP8p.G243R
Missense
SNP
0.406
2-ND
THAP9p.F25I
Missense
SNP
0.345
2-ND
THBS3-
-
-
-
3GainND
THBS4-
-
-
-
1LossND
THEG-
-
-
-
1LossND
THEM4-
-
-
-
3GainND
THEM5-
-
-
-
3GainND
THEM6-
-
-
-
5AmpND
THG1L-
-
-
-
1LossND
THOC3-
-
-
-
1LossND
THOC7-
-
-
-
1LossND
THOP1-
-
-
-
1LossND
THPO-
-
-
-
3GainND
THRB-
-
-
-
1LossND
THSD1p.P571L
Missense
SNP
0.367
2-ND
THSD7Ap.P1205S
Missense
SNP
0.473
3GainND
THSD7Bp.P429L
Missense
SNP
0.483
2-ND
THTPA-
-
-
-
1LossND
THUMPD3-
-
-
-
1LossND
THY1p.S17F
Missense
SNP
0.312
2-ND
TICAM1p.P488S
Missense
SNP
0.527
1LossND
TIE1p.G767S
Missense
SNP
0.558
2-ND
TIFAB-
-
-
-
1LossND
TIGD5-
-
-
-
5AmpND
TIGD6-
-
-
-
1LossND
TIGIT-
-
-
-
3GainND
TIMD4-
-
-
-
1LossND
TIMM13-
-
-
-
1LossND
TIMM17A-
-
-
-
3GainND
TIMM44-
-
-
-
1LossND
TIMMDC1-
-
-
-
3GainND
TIMP4-
-
-
-
1LossND
TINF2-
-
-
-
1LossND
TIPARP-
-
-
-
3GainND
TIPRL-
-
-
-
3GainND
TJP2-
-
-
-
3GainND
TJP3p.G412S
Missense
SNP
0.341
1LossND
TKT-
-
-
-
1LossND
TLCD2p.G73C
Missense
SNP
0.692
2-ND
TLDC2p.E210Gfs*22
Frame_Shift_Ins
INS
0.299
2-ND
TLE1-
-
-
-
3GainND
TLE2-
-
-
-
1LossND
TLE4p.D315G
Missense
SNP
0.502
3GainND
TLE6-
-
-
-
1LossND
TLN1-
-
-
-
1LossND
TLR4-
-
-
-
3GainND
TLR5-
-
-
-
3GainND
TLR9p.P109S
Missense
SNP
0.554
1LossND
TLX2-
-
-
-
1LossND
TLX3-
-
-
-
1LossND
TM4SF1-
-
-
-
3GainND
TM4SF18-
-
-
-
3GainND
TM4SF19-
-
-
-
3GainND
TM4SF19-TCTEX1D2-
-
-
-
3GainND
TM4SF4-
-
-
-
3GainND
TM6SF1p.G161E
Missense
SNP
0.407
2-ND
TM6SF2-
-
-
-
1LossND
TM9SF1-
-
-
-
1LossND
TMA7-
-
-
-
1LossND
TMC1p.T297I
Missense
SNP
0.605
3GainND
TMC4-
-
-
-
1LossND
TMC6p.M168T
Missense
SNP
0.483
2-ND
TMCC1-
-
-
-
3GainND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMCO6-
-
-
-
1LossND
TMED4-
-
-
-
3GainND
TMED7-
-
-
-
1LossND
TMED7-TICAM2-
-
-
-
1LossND
TMED9-
-
-
-
1LossND
TMEFF1-
-
-
-
3GainND
TMEM106B-
-
-
-
3GainND
TMEM108-
-
-
-
3GainND
TMEM110-MUSTN1-
-
-
-
1LossND
TMEM114p.S188F
Missense
SNP
0.427
2-ND
TMEM115-
-
-
-
1LossND
TMEM120A-
-
-
-
3GainND
TMEM130-
-
-
-
3GainND
TMEM132Bp.E100K
p.E340K
Missense
Missense
SNP
SNP
0.455
0.432
2-ND
TMEM132Dp.E195K
Missense
SNP
0.479
2-ND
TMEM135p.E135K
Missense
SNP
0.493
2-ND
TMEM139-
-
-
-
3GainND
TMEM140-
-
-
-
3GainND
TMEM141-
-
-
-
3GainND
TMEM143-
-
-
-
1LossND
TMEM158-
-
-
-
1LossND
TMEM160-
-
-
-
1LossND
TMEM161A-
-
-
-
1LossND
TMEM161B-
-
-
-
1LossND
TMEM167A-
-
-
-
1LossND
TMEM168-
-
-
-
3GainND
TMEM171-
-
-
-
1LossND
TMEM173-
-
-
-
1LossND
TMEM174-
-
-
-
1LossND
TMEM176A-
-
-
-
3GainND
TMEM176B-
-
-
-
3GainND
TMEM178B-
-
-
-
3GainND
TMEM183A-
-
-
-
3GainND
TMEM184A-
-
-
-
3GainND
TMEM190p.P119S
Missense
SNP
0.453
2-ND
TMEM196-
-
-
-
3GainND
TMEM198p.A6V
p.E270K
Missense
Missense
SNP
SNP
0.277
0.449
2-ND
TMEM200Cp.D389N
Missense
SNP
0.406
2-ND
TMEM203-
-
-
-
3GainND
TMEM206-
-
-
-
3GainND
TMEM207-
-
-
-
3GainND
TMEM209-
-
-
-
3GainND
TMEM210-
-
-
-
3GainND
TMEM212-
-
-
-
3GainND
TMEM213-
-
-
-
3GainND
TMEM215-
-
-
-
1LossND
TMEM225B-
-
-
-
3GainND
TMEM229A-
-
-
-
3GainND
TMEM230p.P105S
Missense
SNP
0.295
2-ND
TMEM232-
-
-
-
1LossND
TMEM243-
-
-
-
3GainND
TMEM245-
-
-
-
3GainND
TMEM246-
-
-
-
3GainND
TMEM248-
-
-
-
3GainND
TMEM249-
-
-
-
4GainND
TMEM250-
-
-
-
3GainND
TMEM252-
-
-
-
3GainND
TMEM253-
-
-
-
1LossND
TMEM259-
-
-
-
1LossND
TMEM268-
-
-
-
3GainND
TMEM270-
-
-
-
3GainND
TMEM37p.F104I
Missense
SNP
0.420
2-ND
TMEM38B-
-
-
-
3GainND
TMEM39A-
-
-
-
3GainND
TMEM40-
-
-
-
1LossND
TMEM41A-
-
-
-
3GainND
TMEM42-
-
-
-
1LossND
TMEM43-
-
-
-
1LossND
TMEM44-
-
-
-
3GainND
TMEM45A-
-
-
-
3GainND
TMEM59L-
-
-
-
1LossND
TMEM60-
-
-
-
3GainND
TMEM63A-
-
-
-
3GainND
TMEM64-
-
-
-
5AmpND
TMEM65-
-
-
-
5AmpND
TMEM67-
-
-
-
5AmpND
TMEM68-
-
-
-
5AmpND
TMEM70-
-
-
-
5AmpND
TMEM71-
-
-
-
5AmpND
TMEM74-
-
-
-
5AmpND
TMEM79-
-
-
-
3GainND
TMEM81-
-
-
-
3GainND
TMEM89-
-
-
-
1LossND
TMEM8B-
-
-
-
1LossND
TMEM9-
-
-
-
3GainND
TMF1-
-
-
-
1LossND
TMIE-
-
-
-
1LossND
TMIGD2-
-
-
-
1LossND
TMIGD3p.Q23E
Missense
SNP
0.231
2-ND
TMOD1-
-
-
-
3GainND
TMOD4-
-
-
-
3GainND
TMPPEp.L144F
Missense
SNP
0.286
1LossND
TMPRSS6p.S317F
Missense
SNP
0.383
2-ND
TMPRSS7p.G59D
Missense
SNP
0.319
3GainND
TMPRSS9-
-
-
-
1LossND
TMUB1-
-
-
-
3GainND
TNC-
-
-
-
3GainND
TNFAIP8-
-
-
-
1LossND
TNFAIP8L1-
-
-
-
1LossND
TNFAIP8L2-
-
-
-
3GainND
TNFRSF11B-
-
-
-
5AmpND
TNFSF10-
-
-
-
3GainND
TNFSF14-
-
-
-
1LossND
TNFSF15-
-
-
-
3GainND
TNFSF18-
-
-
-
3GainND
TNFSF4-
-
-
-
3GainND
TNFSF8-
-
-
-
3GainND
TNFSF9-
-
-
-
1LossND
TNIKp.Q702*
Nonsense
SNP
0.558
3GainND
TNIP1-
-
-
-
1LossND
TNK2-
-
-
-
3GainND
TNKS2p.D981N
Missense
SNP
0.385
2-ND
TNN-
-
-
-
3GainND
TNNC1-
-
-
-
1LossND
TNNI1-
-
-
-
3GainND
TNNT2-
-
-
-
3GainND
TNP1p.G27D
Missense
SNP
0.321
2-ND
TNPO1-
-
-
-
1LossND
TNPO3-
-
-
-
3GainND
TNR-
-
-
-
3GainND
TNRC18-
-
-
-
3GainND
TNS3-
-
-
-
3GainND
TNXBp.Q242*
Nonsense
SNP
0.835
2-ND
TOMM20-
-
-
-
3GainND
TOMM40-
-
-
-
1LossND
TOMM40L-
-
-
-
3GainND
TOMM5-
-
-
-
1LossND
TOMM7-
-
-
-
3GainND
TOMM70-
-
-
-
3GainND
TONSL-
-
-
-
4GainND
TOP1MT-
-
-
-
5AmpND
TOP2B-
-
-
-
1LossND
TOPAZ1-
-
-
-
1LossND
TOPBP1-
-
-
-
3GainND
TOPORS-
-
-
-
1LossND
TOR1A-
-
-
-
3GainND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR1B-
-
-
-
3GainND
TOR2A-
-
-
-
3GainND
TOR3A-
-
-
-
3GainND
TOR4A-
-
-
-
3GainND
TOX-
-
-
-
5AmpND
TOX2p.V276A
Missense
SNP
0.456
2-ND
TOX3p.M136R
Missense
SNP
0.372
2-ND
TOX4-
-
-
-
1LossND
TP53p.R306*
p.R273L
Nonsense
Missense
SNP
SNP
0.737
0.169
2-ND
TP53BP1p.I233K
Missense
SNP
0.373
2-ND
TP53BP2p.S381F
Missense
SNP
0.364
3GainND
TP53INP1-
-
-
-
5AmpND
TP63-
-
-
-
3GainND
TPD52-
-
-
-
5AmpND
TPD52L3-
-
-
-
1LossND
TPGS1-
-
-
-
1LossND
TPK1-
-
-
-
3GainND
TPM2-
-
-
-
1LossND
TPM3-
-
-
-
3GainND
TPP1p.P156L
Missense
SNP
0.485
2-ND
TPP2p.E665K
p.Y991S
Missense
Missense
SNP
SNP
0.498
0.353
2-ND
TPPP2-
-
-
-
1LossND
TPRp.Y540H
Missense
SNP
0.431
3GainND
TPRA1-
-
-
-
3GainND
TPRG1-
-
-
-
3GainND
TPRG1Lp.R79C
Missense
SNP
0.297
2-ND
TPRN-
-
-
-
3GainND
TPRX1-
-
-
-
1LossND
TPST1-
-
-
-
3GainND
TRA2A-
-
-
-
3GainND
TRA2B-
-
-
-
3GainND
TRAF1-
-
-
-
3GainND
TRAF2-
-
-
-
3GainND
TRAF3IP3-
-
-
-
3GainND
TRAF5-
-
-
-
3GainND
TRAIP-
-
-
-
1LossND
TRAK1-
-
-
-
1LossND
TRAM1-
-
-
-
5AmpND
TRANK1-
-
-
-
1LossND
TRAPPC11p.P922F
Missense
MNP
0.514
2-ND
TRAPPC13-
-
-
-
1LossND
TRAPPC2B-
-
-
-
1LossND
TRAPPC3p.L133F
Missense
SNP
0.426
2-ND
TRAPPC5-
-
-
-
1LossND
TRAPPC6A-
-
-
-
1LossND
TRAPPC9-
-
-
-
5AmpND
TRAT1-
-
-
-
3GainND
TRDV1-
-
-
-
1LossND
TRERF1p.P616L
Missense
SNP
0.354
2-ND
TREX1-
-
-
-
1LossND
TRGV2p.E58K
Missense
SNP
0.509
NDNDND
TRH-
-
-
-
3GainND
TRHR-
-
-
-
5AmpND
TRIB1-
-
-
-
5AmpND
TRIL-
-
-
-
3GainND
TRIM11-
-
-
-
3GainND
TRIM14-
-
-
-
3GainND
TRIM17-
-
-
-
3GainND
TRIM23-
-
-
-
1LossND
TRIM24-
-
-
-
3GainND
TRIM28-
-
-
-
1LossND
TRIM29p.S130F
Missense
SNP
0.406
2-ND
TRIM32-
-
-
-
3GainND
TRIM36-
-
-
-
1LossND
TRIM4-
-
-
-
3GainND
TRIM41-
-
-
-
1LossND
TRIM42-
-
-
-
3GainND
TRIM46p.P623L
p.E644K
p.P679S
Missense
Missense
Missense
SNP
SNP
SNP
0.436
0.515
0.419
3GainND
TRIM49Bp.H69Y
Missense
SNP
0.362
2-ND
TRIM50-
-
-
-
3GainND
TRIM52-
-
-
-
1LossND
TRIM55-
-
-
-
5AmpND
TRIM56-
-
-
-
3GainND
TRIM58-
-
-
-
3GainND
TRIM59-
-
-
-
3GainND
TRIM67-
-
-
-
3GainND
TRIM68p.R83Vfs*3
Frame_Shift_Del
DEL
0.387
2-ND
TRIM7-
-
-
-
1LossND
TRIM71-
-
-
-
1LossND
TRIM73-
-
-
-
3GainND
TRIM74-
-
-
-
3GainND
TRIOBPp.R1567Q
Missense
SNP
0.435
2-ND
TRIP10-
-
-
-
1LossND
TRIP6-
-
-
-
3GainND
TRIQK-
-
-
-
5AmpND
TRMO-
-
-
-
3GainND
TRMT1p.H423Y
Missense
SNP
0.452
2-ND
TRMT10B-
-
-
-
1LossND
TRMT10C-
-
-
-
3GainND
TRMT12-
-
-
-
5AmpND
TRMT1L-
-
-
-
3GainND
TRNT1-
-
-
-
1LossND
TROVE2-
-
-
-
3GainND
TRPA1p.E16D
Missense
SNP
0.269
5AmpND
TRPC1-
-
-
-
3GainND
TRPC4p.G693E
Missense
SNP
0.409
2-ND
TRPC7p.S215L
Missense
SNP
0.413
1LossND
TRPM2p.G28R
Missense
SNP
0.753
2-ND
TRPM3-
-
-
-
3GainND
TRPM4-
-
-
-
1LossND
TRPM6-
-
-
-
3GainND
TRPM7p.D609H
Missense
SNP
0.112
2-ND
TRPS1-
-
-
-
5AmpND
TRPV4p.P211L
Missense
SNP
0.381
2-ND
TRPV5p.M577I
Missense
SNP
0.927
3GainND
TRPV6-
-
-
-
3GainND
TRRAPp.S722F
Missense
SNP
0.415
3GainND
TRUB2-
-
-
-
3GainND
TSACC-
-
-
-
3GainND
TSC1-
-
-
-
3GainND
TSC22D2-
-
-
-
3GainND
TSC22D4-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSEN2-
-
-
-
1LossND
TSEN34-
-
-
-
1LossND
TSGA10p.E500K
Missense
SNP
0.486
2-ND
TSGA13-
-
-
-
3GainND
TSHZ1p.P659S
Missense
SNP
0.413
2-ND
TSHZ3p.S1067F
Missense
SNP
0.415
2-ND
TSKS-
-
-
-
1LossND
TSLP-
-
-
-
1LossND
TSNARE1-
-
-
-
5AmpND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSPAN12-
-
-
-
3GainND
TSPAN13-
-
-
-
3GainND
TSPAN17-
-
-
-
1LossND
TSPAN33-
-
-
-
3GainND
TSPEARp.G595E
Missense
SNP
0.850
2-ND
TSPYL4p.N249I
Missense
SNP
0.333
2-ND
TSPYL5-
-
-
-
5AmpND
TSSK1Bp.P280S
Missense
SNP
0.405
1LossND
TSSK4-
-
-
-
1LossND
TSSK6-
-
-
-
1LossND
TSTA3-
-
-
-
5AmpND
TSTD1-
-
-
-
3GainND
TSTD2-
-
-
-
3GainND
TTC1-
-
-
-
1LossND
TTC13-
-
-
-
3GainND
TTC14-
-
-
-
3GainND
TTC16p.E634K
Missense
SNP
0.929
3GainND
TTC17p.T878I
Missense
SNP
0.418
2-ND
TTC21A-
-
-
-
1LossND
TTC24-
-
-
-
3GainND
TTC26-
-
-
-
3GainND
TTC31-
-
-
-
1LossND
TTC37-
-
-
-
1LossND
TTC39B-
-
-
-
1LossND
TTC5-
-
-
-
1LossND
TTC6p.P117L
Missense
SNP
0.431
2-ND
TTF1-
-
-
-
3GainND
TTLL11-
-
-
-
3GainND
TTLL3-
-
-
-
1LossND
TTNp.E33183Sfs*16
p.E31103K
p.P20066L
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
DEL
SNP
MNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.289
0.509
0.285
0.278
0.326
0.357
0.283
0.330
0.402
0.348
0.610
2-ND
TTPA-
-
-
-
5AmpND
TTYH1-
-
-
-
1LossND
TTYH3-
-
-
-
3GainND
TUBA3Cp.A174V
Missense
SNP
0.388
2-ND
TUBB2Bp.G132S
Missense
SNP
0.590
2-ND
TUBB4Ap.G104R
Missense
SNP
0.503
1LossND
TUBB4B-
-
-
-
3GainND
TUBGCP4p.R443W
Missense
SNP
0.412
2-ND
TUFT1-
-
-
-
3GainND
TULP2-
-
-
-
1LossND
TUSC1-
-
-
-
1LossND
TUSC2-
-
-
-
1LossND
TUT1p.G6E
Missense
SNP
0.443
2-ND
TUT7-
-
-
-
3GainND
TVP23Bp.W92*
Nonsense
SNP
0.639
2-ND
TWF2-
-
-
-
1LossND
TWIST1-
-
-
-
3GainND
TWISTNB-
-
-
-
3GainND
TXN-
-
-
-
3GainND
TXNDC15-
-
-
-
1LossND
TXNDC16p.F135Y
Missense
SNP
0.318
2-ND
TXNDC8-
-
-
-
3GainND
TXNRD3-
-
-
-
3GainND
TYRP1-
-
-
-
1LossND
TYW1-
-
-
-
3GainND
TYW1B-
-
-
-
3GainND
U2SURP-
-
-
-
3GainND
UAP1-
-
-
-
3GainND
UAP1L1-
-
-
-
3GainND
UBA1p.P840S
Missense
SNP
0.731
NDNDND
UBA3-
-
-
-
1LossND
UBA5-
-
-
-
3GainND
UBA52-
-
-
-
1LossND
UBA6p.S629F
Missense
SNP
0.329
2-ND
UBA7-
-
-
-
1LossND
UBAC1-
-
-
-
3GainND
UBALD1p.G56E
Missense
SNP
0.402
2-ND
UBAP1-
-
-
-
1LossND
UBAP2-
-
-
-
1LossND
UBAP2L-
-
-
-
3GainND
UBASH3Ap.G320E
p.G632E
Missense
Missense
SNP
SNP
0.387
0.354
2-ND
UBE2B-
-
-
-
1LossND
UBE2D2-
-
-
-
1LossND
UBE2D4-
-
-
-
3GainND
UBE2E1-
-
-
-
1LossND
UBE2E2-
-
-
-
1LossND
UBE2H-
-
-
-
3GainND
UBE2J1-
-
-
-
1LossND
UBE2M-
-
-
-
1LossND
UBE2Q1-
-
-
-
3GainND
UBE2R2-
-
-
-
1LossND
UBE2T-
-
-
-
3GainND
UBE2V2-
-
-
-
5AmpND
UBE2W-
-
-
-
5AmpND
UBE3C-
-
-
-
3GainND
UBFD1p.P217S
Missense
SNP
0.342
2-ND
UBL5-
-
-
-
1LossND
UBLCP1-
-
-
-
1LossND
UBN2-
-
-
-
3GainND
UBP1-
-
-
-
1LossND
UBQLN1p.S408N
Missense
SNP
0.303
3GainND
UBQLN4-
-
-
-
3GainND
UBR4p.N2781K
Missense
SNP
0.536
2-ND
UBR5p.I1130Lfs*11
Frame_Shift_Del
DEL
0.236
5AmpND
UBTD2-
-
-
-
1LossND
UBXN2B-
-
-
-
5AmpND
UBXN6-
-
-
-
1LossND
UBXN7-
-
-
-
3GainND
UCHL5-
-
-
-
3GainND
UCK1-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UCN2-
-
-
-
1LossND
UFC1-
-
-
-
3GainND
UFSP1-
-
-
-
3GainND
UGCG-
-
-
-
3GainND
UGGT2p.R369*
Nonsense
SNP
0.524
2-ND
UGT1A3p.S221F
Missense
SNP
0.492
2-ND
UGT1A4p.L5F
Missense
SNP
0.571
2-ND
UGT2B10p.Q100*
Nonsense
SNP
0.538
2-ND
UGT2B4p.P66S
Missense
SNP
0.341
2-ND
UGT3A1p.P324S
Missense
SNP
0.497
2-ND
UHMK1-
-
-
-
3GainND
UHRF1-
-
-
-
1LossND
UHRF1BP1p.S690F
Missense
SNP
0.466
2-ND
UHRF1BP1Lp.L392R
Missense
MNP
0.354
2-ND
UHRF2-
-
-
-
1LossND
UIMC1-
-
-
-
1LossND
ULK4-
-
-
-
1LossND
UMAD1-
-
-
-
3GainND
UMODL1p.P809S
Missense
SNP
0.464
2-ND
UMPS-
-
-
-
3GainND
UNC119p.P197L
Missense
SNP
0.482
2-ND
UNC13B-
-
-
-
1LossND
UNC13Cp.G1624E
Missense
SNP
0.301
2-ND
UNC5A-
-
-
-
1LossND
UNC79p.P594S
Missense
SNP
0.386
2-ND
UNC80p.S1074F
Missense
SNP
0.524
2-ND
UNCX-
-
-
-
3GainND
UNKLp.P397F
Missense
MNP
0.344
2-ND
UPF1p.P119L
p.P894L
Missense
Missense
SNP
MNP
0.317
0.325
1LossND
UPK1B-
-
-
-
3GainND
UPK3B-
-
-
-
3GainND
UPK3BL1-
-
-
-
3GainND
UPP1-
-
-
-
3GainND
UQCR11-
-
-
-
1LossND
UQCRB-
-
-
-
5AmpND
UQCRC1-
-
-
-
1LossND
UQCRQ-
-
-
-
1LossND
URB2-
-
-
-
3GainND
URGCP-
-
-
-
3GainND
URGCP-MRPS24-
-
-
-
3GainND
URM1-
-
-
-
3GainND
UROC1-
-
-
-
3GainND
USF1-
-
-
-
3GainND
USF3-
-
-
-
3GainND
USH2A-
-
-
-
3GainND
USP13-
-
-
-
3GainND
USP19-
-
-
-
1LossND
USP20p.S737F
Missense
SNP
0.364
3GainND
USP21-
-
-
-
3GainND
USP28p.S996F
p.S943F
Missense
Missense
SNP
SNP
0.436
0.321
2-ND
USP29-
-
-
-
1LossND
USP33p.H666N
Missense
SNP
0.567
2-ND
USP34p.E2480K
p.K1659N
Missense
Missense
SNP
SNP
0.518
0.306
2-ND
USP35p.E361D;p.D362N
Missense
MNP
0.350
2-ND
USP4p.S595F
Missense
SNP
0.615
1LossND
USP42-
-
-
-
3GainND
UTP15-
-
-
-
1LossND
UTP23-
-
-
-
5AmpND
UTP25-
-
-
-
3GainND
UTRNp.E2404K
p.G3386D
Missense
Missense
SNP
SNP
0.600
0.302
2-ND
UTS2B-
-
-
-
3GainND
UXS1p.P410S
Missense
SNP
0.321
2-ND
VAMP4-
-
-
-
3GainND
VANGL2-
-
-
-
3GainND
VASH2-
-
-
-
3GainND
VASP-
-
-
-
1LossND
VAV1-
-
-
-
1LossND
VAV2-
-
-
-
3GainND
VAV3p.G536R
Missense
SNP
0.302
2-ND
VAX2p.S226F
Missense
SNP
0.492
2-ND
VCANp.P1156F
p.D2529N
Missense
Missense
MNP
SNP
0.359
0.386
1LossND
VCLp.S774F
Missense
SNP
0.374
2-ND
VCP-
-
-
-
1LossND
VCPIP1-
-
-
-
5AmpND
VDAC1-
-
-
-
1LossND
VEPH1-
-
-
-
3GainND
VGF-
-
-
-
3GainND
VGLL3-
-
-
-
1LossND
VGLL4-
-
-
-
1LossND
VHL-
-
-
-
1LossND
VHLL-
-
-
-
3GainND
VILL-
-
-
-
1LossND
VIPR1-
-
-
-
1LossND
VIPR2-
-
-
-
3GainND
VIRMA-
-
-
-
5AmpND
VKORC1L1-
-
-
-
3GainND
VLDLR-
-
-
-
1LossND
VMAC-
-
-
-
1LossND
VN1R1-
-
-
-
1LossND
VN1R2-
-
-
-
1LossND
VN1R4-
-
-
-
1LossND
VOPP1-
-
-
-
3GainND
VPS13Ap.S2069F
Missense
SNP
0.394
3GainND
VPS13B-
-
-
-
5AmpND
VPS13Cp.L1395F
Missense
SNP
0.531
2-ND
VPS13Dp.S351F
p.S4205L
Missense
Missense
SNP
SNP
0.495
0.245
2-ND
VPS28-
-
-
-
4GainND
VPS33Bp.E292K
p.R290Q
Missense
Missense
SNP
SNP
0.379
0.555
2-ND
VPS37D-
-
-
-
3GainND
VPS41-
-
-
-
3GainND
VPS45-
-
-
-
3GainND
VPS50-
-
-
-
3GainND
VPS72-
-
-
-
3GainND
VPS8p.G278E
p.P775S
p.V889I
Missense
Missense
Missense
SNP
SNP
SNP
0.239
0.638
0.647
3GainND
VRK3-
-
-
-
1LossND
VSIG10L-
-
-
-
1LossND
VSIG8-
-
-
-
3GainND
VSTM1-
-
-
-
1LossND
VSTM2A-
-
-
-
3GainND
VWA5B1p.R379*
p.P1102S
Nonsense
Missense
SNP
SNP
0.556
0.476
2-ND
VWA5B2-
-
-
-
3GainND
VWA8p.F1218L
Missense
SNP
0.298
2-ND
VWC2-
-
-
-
3GainND
VWDE-
-
-
-
3GainND
VWFp.S2516Vfs*21
p.S1486L
Frame_Shift_Del
Missense
DEL
SNP
0.525
0.478
2-ND
VXN-
-
-
-
5AmpND
WASF1p.L375F
p.R202Q
Missense
Missense
SNP
SNP
0.556
0.298
2-ND
WASHC5-
-
-
-
5AmpND
WASL-
-
-
-
3GainND
WBP1-
-
-
-
1LossND
WBSCR17p.G425E
Missense
SNP
0.391
NDNDND
WDFY4p.A1839V
p.E2278K
Missense
Missense
SNP
SNP
0.410
0.412
2-ND
WDR17p.H338Y
p.R458Q
Missense
Missense
SNP
SNP
0.367
0.351
2-ND
WDR18p.S205L
Missense
SNP
0.223
1LossND
WDR26-
-
-
-
3GainND
WDR31-
-
-
-
3GainND
WDR34-
-
-
-
3GainND
WDR35p.Q501*
p.P291S
Nonsense
Missense
SNP
SNP
0.323
0.385
2-ND
WDR36-
-
-
-
1LossND
WDR38-
-
-
-
3GainND
WDR41-
-
-
-
1LossND
WDR48-
-
-
-
1LossND
WDR49-
-
-
-
3GainND
WDR5-
-
-
-
3GainND
WDR53-
-
-
-
3GainND
WDR54-
-
-
-
1LossND
WDR55-
-
-
-
1LossND
WDR5B-
-
-
-
3GainND
WDR6-
-
-
-
1LossND
WDR60-
-
-
-
3GainND
WDR64-
-
-
-
3GainND
WDR76p.R196K
p.S482F
Missense
Missense
SNP
SNP
0.554
0.377
2-ND
WDR81p.G714S
Missense
SNP
0.273
2-ND
WDR82-
-
-
-
1LossND
WDR86-
-
-
-
3GainND
WDR87p.E1972K
Missense
SNP
0.383
2-ND
WDR91-
-
-
-
3GainND
WDR97-
-
-
-
5AmpND
WDYHV1-
-
-
-
5AmpND
WEE2-
-
-
-
3GainND
WFDC1p.G150R
Missense
SNP
0.481
2-ND
WFDC12p.G57R
Missense
SNP
0.470
2-ND
WHRN-
-
-
-
3GainND
WIPF3-
-
-
-
3GainND
WIPI2-
-
-
-
3GainND
WISP1-
-
-
-
5AmpND
WNK2-
-
-
-
3GainND
WNK3p.S349F
Missense
SNP
0.837
NDNDND
WNT16-
-
-
-
3GainND
WNT2-
-
-
-
3GainND
WNT3A-
-
-
-
3GainND
WNT5A-
-
-
-
1LossND
WNT7Ap.G285S
Missense
SNP
0.343
1LossND
WNT8A-
-
-
-
1LossND
WNT9A-
-
-
-
3GainND
WSB1p.P299S
Missense
SNP
0.162
2-ND
WSCD1p.A321E
Missense
SNP
0.556
2-ND
WWC1-
-
-
-
1LossND
WWP1-
-
-
-
5AmpND
WWP2p.G478R
p.X838_splice
Missense
Splice_Site
SNP
SNP
0.332
0.566
2-ND
WWTR1-
-
-
-
3GainND
XAB2-
-
-
-
1LossND
XAF1p.P241T
Missense
SNP
0.682
2-ND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XCR1-
-
-
-
1LossND
XIRP1p.E1541K
p.P1444L
Missense
Missense
SNP
SNP
0.509
0.229
1LossND
XIRP2p.R1437Q
p.G2938E
Missense
Missense
SNP
SNP
0.375
0.333
2-ND
XKR4-
-
-
-
5AmpND
XKR6p.G90R
Missense
SNP
0.327
2-ND
XKR9-
-
-
-
5AmpND
XPA-
-
-
-
3GainND
XPCp.V681E
Missense
SNP
0.319
1LossND
XPR1-
-
-
-
3GainND
XRCC2-
-
-
-
3GainND
XRCC4-
-
-
-
1LossND
XRCC6p.I223T
Missense
SNP
0.220
2-ND
XRN1-
-
-
-
3GainND
XXYLT1-
-
-
-
3GainND
XYLB-
-
-
-
1LossND
YAE1-
-
-
-
3GainND
YAP1p.A153V
Missense
SNP
0.458
2-ND
YEATS2-
-
-
-
3GainND
YIPF5-
-
-
-
1LossND
YJEFN3-
-
-
-
1LossND
YJU2-
-
-
-
1LossND
YKT6-
-
-
-
3GainND
YLPM1p.S468F
Missense
SNP
0.464
2-ND
YOD1-
-
-
-
3GainND
YTHDC2-
-
-
-
1LossND
YTHDF3-
-
-
-
5AmpND
YWHAG-
-
-
-
3GainND
YWHAZ-
-
-
-
5AmpND
YY1AP1-
-
-
-
3GainND
Z84492.1-
-
-
-
1LossND
ZANp.E729K
p.P913L
Missense
Missense
SNP
SNP
0.325
0.359
3GainND
ZAR1Lp.Q104H
Missense
SNP
0.430
2-ND
ZBBX-
-
-
-
3GainND
ZBED2-
-
-
-
3GainND
ZBED3-
-
-
-
1LossND
ZBED6-
-
-
-
3GainND
ZBED6CL-
-
-
-
3GainND
ZBED8-
-
-
-
1LossND
ZBP1p.E99K
Missense
SNP
0.326
2-ND
ZBTB10-
-
-
-
5AmpND
ZBTB11-
-
-
-
3GainND
ZBTB16p.D367N
Missense
SNP
0.366
2-ND
ZBTB18-
-
-
-
3GainND
ZBTB20-
-
-
-
3GainND
ZBTB26-
-
-
-
3GainND
ZBTB34-
-
-
-
3GainND
ZBTB37-
-
-
-
3GainND
ZBTB38-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB43p.P13S
Missense
SNP
0.346
3GainND
ZBTB45-
-
-
-
1LossND
ZBTB47-
-
-
-
1LossND
ZBTB5p.S577F
Missense
SNP
0.875
1LossND
ZBTB6-
-
-
-
3GainND
ZBTB7A-
-
-
-
1LossND
ZBTB7B-
-
-
-
3GainND
ZC2HC1A-
-
-
-
5AmpND
ZC3H11A-
-
-
-
3GainND
ZC3H13p.R671K
p.P495L
p.P365L
Missense
Missense
Missense
SNP
SNP
SNP
0.344
0.311
0.398
2-ND
ZC3H14p.D71N
Missense
SNP
0.482
2-ND
ZC3H3-
-
-
-
5AmpND
ZC3H4-
-
-
-
1LossND
ZC3HAV1-
-
-
-
3GainND
ZC3HAV1L-
-
-
-
3GainND
ZC3HC1-
-
-
-
3GainND
ZCCHC10-
-
-
-
1LossND
ZCCHC18p.G30E
Missense
SNP
0.749
NDNDND
ZCCHC7-
-
-
-
1LossND
ZCCHC9-
-
-
-
1LossND
ZCWPW1-
-
-
-
3GainND
ZCWPW2-
-
-
-
1LossND
ZDBF2p.P1916S
Missense
SNP
0.327
2-ND
ZDHHC12-
-
-
-
3GainND
ZDHHC19p.R268K
Missense
SNP
0.570
3GainND
ZDHHC21-
-
-
-
1LossND
ZDHHC23-
-
-
-
3GainND
ZDHHC3-
-
-
-
1LossND
ZDHHC4-
-
-
-
3GainND
ZER1-
-
-
-
3GainND
ZFAND1-
-
-
-
5AmpND
ZFAND2A-
-
-
-
3GainND
ZFAND5-
-
-
-
3GainND
ZFATp.D1113N
Missense
SNP
0.111
5AmpND
ZFHX2p.G2528E
Missense
SNP
0.380
1LossND
ZFHX4p.E2255K
p.P3122S
Missense
Missense
SNP
SNP
0.649
0.267
5AmpND
ZFP2-
-
-
-
1LossND
ZFP28-
-
-
-
1LossND
ZFP36L2p.D32N
p.E19K
Missense
Missense
SNP
SNP
0.429
0.349
2-ND
ZFP37-
-
-
-
3GainND
ZFP41-
-
-
-
5AmpND
ZFP62-
-
-
-
1LossND
ZFP69Bp.L66*
p.P240L
Frame_Shift_Del
Missense
DEL
SNP
0.529
0.302
2-ND
ZFP92p.N166S
Missense
SNP
0.822
NDNDND
ZFPL1p.P135S
Missense
SNP
0.429
2-ND
ZFPM2-
-
-
-
5AmpND
ZFR2-
-
-
-
1LossND
ZFYVE16p.S662L
Missense
SNP
0.426
1LossND
ZFYVE26p.P2455L
Missense
MNP
0.444
2-ND
ZFYVE27p.E244K
Missense
SNP
0.385
2-ND
ZHX1-
-
-
-
5AmpND
ZHX1-C8orf76-
-
-
-
5AmpND
ZHX2-
-
-
-
5AmpND
ZIC1-
-
-
-
3GainND
ZIC4-
-
-
-
3GainND
ZIK1-
-
-
-
1LossND
ZIM2-
-
-
-
1LossND
ZIM3p.K82*
Nonsense
SNP
0.288
1LossND
ZKSCAN1-
-
-
-
3GainND
ZKSCAN5-
-
-
-
3GainND
ZKSCAN7-
-
-
-
1LossND
ZMAT3-
-
-
-
3GainND
ZMIZ2-
-
-
-
3GainND
ZMYM3p.G401E
p.P93S
Missense
Missense
SNP
SNP
0.813
0.738
NDNDND
ZMYND10-
-
-
-
1LossND
ZMYND19p.S116F
Missense
SNP
0.280
3GainND
ZNF100-
-
-
-
1LossND
ZNF101-
-
-
-
1LossND
ZNF106p.Q1185K
Missense
SNP
0.562
2-ND
ZNF114-
-
-
-
1LossND
ZNF12-
-
-
-
3GainND
ZNF121p.H194Y
Missense
SNP
0.424
1LossND
ZNF124-
-
-
-
3GainND
ZNF132-
-
-
-
1LossND
ZNF134-
-
-
-
1LossND
ZNF135p.G430K
Missense
MNP
0.171
1LossND
ZNF136-
-
-
-
1LossND
ZNF14-
-
-
-
1LossND
ZNF148-
-
-
-
3GainND
ZNF154-
-
-
-
1LossND
ZNF155p.K306*
Nonsense
SNP
0.433
2-ND
ZNF157p.E487K
Missense
SNP
0.818
NDNDND
ZNF16-
-
-
-
4GainND
ZNF160p.M660I
Missense
SNP
0.262
1LossND
ZNF169-
-
-
-
3GainND
ZNF17-
-
-
-
1LossND
ZNF175-
-
-
-
1LossND
ZNF177-
-
-
-
1LossND
ZNF184p.G554E
Missense
SNP
0.927
2-ND
ZNF189-
-
-
-
3GainND
ZNF197-
-
-
-
1LossND
ZNF20-
-
-
-
1LossND
ZNF208-
-
-
-
1LossND
ZNF211-
-
-
-
1LossND
ZNF212-
-
-
-
3GainND
ZNF213p.S374F
Missense
SNP
0.467
2-ND
ZNF214p.G289*
Nonsense
SNP
0.446
2-ND
ZNF219-
-
-
-
1LossND
ZNF229p.E102K
Missense
SNP
0.496
2-ND
ZNF250-
-
-
-
4GainND
ZNF251-
-
-
-
4GainND
ZNF253-
-
-
-
1LossND
ZNF254-
-
-
-
1LossND
ZNF256-
-
-
-
1LossND
ZNF257-
-
-
-
1LossND
ZNF260p.H326Y
Missense
SNP
0.339
2-ND
ZNF264-
-
-
-
1LossND
ZNF266-
-
-
-
1LossND
ZNF274-
-
-
-
1LossND
ZNF277-
-
-
-
3GainND
ZNF28-
-
-
-
1LossND
ZNF280Ap.V220A
Missense
SNP
0.450
2-ND
ZNF281-
-
-
-
3GainND
ZNF282-
-
-
-
3GainND
ZNF284p.R499C
Missense
SNP
0.491
2-ND
ZNF296-
-
-
-
1LossND
ZNF3-
-
-
-
3GainND
ZNF300p.S379F
Missense
SNP
0.452
1LossND
ZNF304-
-
-
-
1LossND
ZNF316-
-
-
-
3GainND
ZNF317-
-
-
-
1LossND
ZNF320-
-
-
-
1LossND
ZNF324-
-
-
-
1LossND
ZNF324B-
-
-
-
1LossND
ZNF329-
-
-
-
1LossND
ZNF331p.P382L
Missense
SNP
0.233
1LossND
ZNF335p.S991F
Missense
SNP
0.417
2-ND
ZNF33Ap.T217A
Missense
SNP
0.353
2-ND
ZNF34-
-
-
-
4GainND
ZNF346-
-
-
-
1LossND
ZNF347-
-
-
-
1LossND
ZNF35-
-
-
-
1LossND
ZNF350-
-
-
-
1LossND
ZNF354A-
-
-
-
1LossND
ZNF354B-
-
-
-
1LossND
ZNF354C-
-
-
-
1LossND
ZNF358-
-
-
-
1LossND
ZNF366-
-
-
-
1LossND
ZNF367-
-
-
-
3GainND
ZNF37Ap.K535R
Missense
SNP
0.102
2-ND
ZNF385D-
-
-
-
1LossND
ZNF394-
-
-
-
3GainND
ZNF398-
-
-
-
3GainND
ZNF414-
-
-
-
1LossND
ZNF415-
-
-
-
1LossND
ZNF416-
-
-
-
1LossND
ZNF417-
-
-
-
1LossND
ZNF418-
-
-
-
1LossND
ZNF419-
-
-
-
1LossND
ZNF425p.H492Y
Missense
SNP
0.897
3GainND
ZNF426-
-
-
-
1LossND
ZNF429-
-
-
-
1LossND
ZNF43-
-
-
-
1LossND
ZNF430-
-
-
-
1LossND
ZNF431-
-
-
-
1LossND
ZNF432-
-
-
-
1LossND
ZNF433p.E615K
Missense
SNP
0.477
1LossND
ZNF438p.P598L
Missense
SNP
0.449
2-ND
ZNF439-
-
-
-
1LossND
ZNF44-
-
-
-
1LossND
ZNF440-
-
-
-
1LossND
ZNF441-
-
-
-
1LossND
ZNF442-
-
-
-
1LossND
ZNF443-
-
-
-
1LossND
ZNF444p.P325S
Missense
SNP
0.378
2-ND
ZNF445-
-
-
-
1LossND
ZNF446-
-
-
-
1LossND
ZNF45p.S219L
Missense
SNP
0.430
2-ND
ZNF454-
-
-
-
1LossND
ZNF460-
-
-
-
1LossND
ZNF462p.V2360A
Missense
SNP
0.325
3GainND
ZNF467-
-
-
-
3GainND
ZNF468-
-
-
-
1LossND
ZNF469p.R2054Q
Missense
SNP
0.481
2-ND
ZNF470p.S104L
Missense
SNP
0.340
1LossND
ZNF471-
-
-
-
1LossND
ZNF473-
-
-
-
1LossND
ZNF474-
-
-
-
1LossND
ZNF479-
-
-
-
3GainND
ZNF480-
-
-
-
1LossND
ZNF483-
-
-
-
3GainND
ZNF484p.H352Y
Missense
SNP
0.348
3GainND
ZNF486-
-
-
-
1LossND
ZNF490-
-
-
-
1LossND
ZNF491-
-
-
-
1LossND
ZNF492-
-
-
-
1LossND
ZNF493-
-
-
-
1LossND
ZNF496-
-
-
-
3GainND
ZNF497-
-
-
-
1LossND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF506-
-
-
-
1LossND
ZNF510-
-
-
-
3GainND
ZNF517-
-
-
-
4GainND
ZNF518Ap.P1353L
Missense
SNP
0.450
2-ND
ZNF521p.G102E
Missense
SNP
0.441
2-ND
ZNF525-
-
-
-
1LossND
ZNF528-
-
-
-
1LossND
ZNF530-
-
-
-
1LossND
ZNF534-
-
-
-
1LossND
ZNF536p.P24L
Missense
SNP
0.374
2-ND
ZNF541p.S792F
Missense
SNP
0.325
1LossND
ZNF543-
-
-
-
1LossND
ZNF544p.G610E
Missense
SNP
0.275
1LossND
ZNF547-
-
-
-
1LossND
ZNF548-
-
-
-
1LossND
ZNF549-
-
-
-
1LossND
ZNF550-
-
-
-
1LossND
ZNF551-
-
-
-
1LossND
ZNF552-
-
-
-
1LossND
ZNF554-
-
-
-
1LossND
ZNF555-
-
-
-
1LossND
ZNF556-
-
-
-
1LossND
ZNF557p.S166F
Missense
SNP
0.272
1LossND
ZNF558-
-
-
-
1LossND
ZNF559-
-
-
-
1LossND
ZNF559-ZNF177-
-
-
-
1LossND
ZNF560-
-
-
-
1LossND
ZNF561-
-
-
-
1LossND
ZNF562-
-
-
-
1LossND
ZNF563-
-
-
-
1LossND
ZNF564-
-
-
-
1LossND
ZNF569p.R458K
p.Q104*
Missense
Nonsense
SNP
SNP
0.420
0.481
2-ND
ZNF57-
-
-
-
1LossND
ZNF572p.E49K
Missense
SNP
0.644
5AmpND
ZNF577-
-
-
-
1LossND
ZNF578-
-
-
-
1LossND
ZNF582-
-
-
-
1LossND
ZNF583-
-
-
-
1LossND
ZNF584-
-
-
-
1LossND
ZNF586-
-
-
-
1LossND
ZNF587-
-
-
-
1LossND
ZNF587B-
-
-
-
1LossND
ZNF589-
-
-
-
1LossND
ZNF594p.H643Y
Missense
SNP
0.662
2-ND
ZNF600-
-
-
-
1LossND
ZNF606p.H618Y
Missense
SNP
0.308
1LossND
ZNF607p.H471Y
Missense
SNP
0.523
2-ND
ZNF608-
-
-
-
1LossND
ZNF610-
-
-
-
1LossND
ZNF611-
-
-
-
1LossND
ZNF613-
-
-
-
1LossND
ZNF614p.N458Y;p.C457*
Nonsense
MNP
0.460
1LossND
ZNF615-
-
-
-
1LossND
ZNF616-
-
-
-
1LossND
ZNF618-
-
-
-
3GainND
ZNF619-
-
-
-
1LossND
ZNF620-
-
-
-
1LossND
ZNF621-
-
-
-
1LossND
ZNF623-
-
-
-
5AmpND
ZNF625-
-
-
-
1LossND
ZNF625-ZNF20-
-
-
-
1LossND
ZNF626-
-
-
-
1LossND
ZNF639-
-
-
-
3GainND
ZNF646p.R897K
Missense
SNP
0.257
2-ND
ZNF648p.G472D
Missense
SNP
0.440
3GainND
ZNF649-
-
-
-
1LossND
ZNF654-
-
-
-
1LossND
ZNF655-
-
-
-
3GainND
ZNF658-
-
-
-
3GainND
ZNF66-
-
-
-
1LossND
ZNF660-
-
-
-
1LossND
ZNF662-
-
-
-
1LossND
ZNF665-
-
-
-
1LossND
ZNF667-
-
-
-
1LossND
ZNF669-
-
-
-
3GainND
ZNF670-
-
-
-
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF671-
-
-
-
1LossND
ZNF672-
-
-
-
3GainND
ZNF675-
-
-
-
1LossND
ZNF676-
-
-
-
1LossND
ZNF677-
-
-
-
1LossND
ZNF678-
-
-
-
3GainND
ZNF681-
-
-
-
1LossND
ZNF682-
-
-
-
1LossND
ZNF683p.G387E
Missense
SNP
0.564
2-ND
ZNF687-
-
-
-
3GainND
ZNF69-
-
-
-
1LossND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF696-
-
-
-
5AmpND
ZNF699-
-
-
-
1LossND
ZNF7-
-
-
-
4GainND
ZNF700-
-
-
-
1LossND
ZNF701-
-
-
-
1LossND
ZNF704-
-
-
-
5AmpND
ZNF706-
-
-
-
5AmpND
ZNF707-
-
-
-
5AmpND
ZNF708-
-
-
-
1LossND
ZNF709-
-
-
-
1LossND
ZNF71-
-
-
-
1LossND
ZNF713-
-
-
-
3GainND
ZNF714-
-
-
-
1LossND
ZNF716-
-
-
-
3GainND
ZNF717-
-
-
-
1LossND
ZNF721p.C702S
Missense
SNP
0.490
2-ND
ZNF723-
-
-
-
1LossND
ZNF724-
-
-
-
1LossND
ZNF726-
-
-
-
1LossND
ZNF728-
-
-
-
1LossND
ZNF729p.A736G
p.S748A
Missense
Missense
SNP
SNP
0.162
0.252
1LossND
ZNF730p.E259K
Missense
SNP
0.444
1LossND
ZNF737-
-
-
-
1LossND
ZNF738-
-
-
-
1LossND
ZNF746-
-
-
-
3GainND
ZNF749p.P480S
Missense
SNP
0.467
1LossND
ZNF761p.R737C
Missense
SNP
0.461
1LossND
ZNF763-
-
-
-
1LossND
ZNF765-
-
-
-
1LossND
ZNF766-
-
-
-
1LossND
ZNF77-
-
-
-
1LossND
ZNF772-
-
-
-
1LossND
ZNF773-
-
-
-
1LossND
ZNF775-
-
-
-
3GainND
ZNF776-
-
-
-
1LossND
ZNF777-
-
-
-
3GainND
ZNF782-
-
-
-
3GainND
ZNF783-
-
-
-
3GainND
ZNF786-
-
-
-
3GainND
ZNF789-
-
-
-
3GainND
ZNF79-
-
-
-
3GainND
ZNF791-
-
-
-
1LossND
ZNF793p.S347F
Missense
SNP
0.388
2-ND
ZNF799-
-
-
-
1LossND
ZNF8-
-
-
-
1LossND
ZNF80p.R234Q
Missense
SNP
0.201
3GainND
ZNF800-
-
-
-
3GainND
ZNF804B-
-
-
-
3GainND
ZNF805-
-
-
-
1LossND
ZNF808-
-
-
-
1LossND
ZNF813-
-
-
-
1LossND
ZNF814-
-
-
-
1LossND
ZNF816-
-
-
-
1LossND
ZNF816-ZNF321P-
-
-
-
1LossND
ZNF823-
-
-
-
1LossND
ZNF83-
-
-
-
1LossND
ZNF835-
-
-
-
1LossND
ZNF836-
-
-
-
1LossND
ZNF837-
-
-
-
1LossND
ZNF841-
-
-
-
1LossND
ZNF844-
-
-
-
1LossND
ZNF845-
-
-
-
1LossND
ZNF846-
-
-
-
1LossND
ZNF85-
-
-
-
1LossND
ZNF852-
-
-
-
1LossND
ZNF853-
-
-
-
3GainND
ZNF860p.H364Y
Missense
SNP
0.552
1LossND
ZNF862-
-
-
-
3GainND
ZNF878-
-
-
-
1LossND
ZNF879-
-
-
-
1LossND
ZNF880-
-
-
-
1LossND
ZNF883-
-
-
-
3GainND
ZNF888-
-
-
-
1LossND
ZNF90p.G132E
Missense
SNP
0.299
1LossND
ZNF91-
-
-
-
1LossND
ZNF93-
-
-
-
1LossND
ZNF98p.E118K
Missense
SNP
0.476
1LossND
ZNF99p.P508L
p.H335Y
Missense
Missense
SNP
SNP
0.383
0.583
1LossND
ZNHIT1-
-
-
-
3GainND
ZNRF2-
-
-
-
3GainND
ZNRF4-
-
-
-
1LossND
ZP3-
-
-
-
3GainND
ZP4-
-
-
-
3GainND
ZPBP-
-
-
-
3GainND
ZPLD1-
-
-
-
3GainND
ZSCAN1-
-
-
-
1LossND
ZSCAN18-
-
-
-
1LossND
ZSCAN20p.P502L
Missense
SNP
0.525
2-ND
ZSCAN21-
-
-
-
3GainND
ZSCAN22p.S238F
Missense
SNP
0.517
1LossND
ZSCAN25-
-
-
-
3GainND
ZSCAN4-
-
-
-
1LossND
ZSWIM2p.S504L
Missense
SNP
0.417
2-ND
ZSWIM3p.P299S
Missense
SNP
0.542
2-ND
ZSWIM6-
-
-
-
1LossND
ZSWIM9-
-
-
-
1LossND
ZXDCp.G734R
Missense
SNP
0.614
3GainND
ZYX-
-
-
-
3GainND
ZZEF1p.H2928Y
Missense
SNP
0.697
2-ND