PDMR-174316~266-R~AD8-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A4GNT-
-
-
-
3Gain-
AAAS-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AAGAB-
-
-
-
1Loss-
AAK1p.L948P
Missense
SNP
0.165
1Loss-
AASS-
-
-
-
3Gain-
ABCA12p.L1311F
Missense
SNP
0.757
2--
ABCA5p.K1402R
Missense
SNP
0.533
2--
ABCB1-
-
-
-
3Gain-
ABCB11-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB6p.W360*
Nonsense
MNP
0.831
2--
ABCB9-
-
-
-
1Loss-
ABCC12p.G847S
Missense
SNP
0.424
2--
ABCC2-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCC9p.L1140Q
Missense
SNP
0.376
1Loss-
ABCD2-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD10-
-
-
-
1Loss-
ABHD11-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
3Gain-
ABHD14A-ACY1-
-
-
-
3Gain-
ABHD14B-
-
-
-
3Gain-
ABHD4-
-
-
-
1Loss-
ABHD5p.P286F
Missense
MNP
0.482
3Gain-
ABHD6-
-
-
-
3Gain-
ABI1-
-
-
-
1Loss-
ABI3BP-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC001226.2-
-
-
-
1Loss-
AC002996.1-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005041.1-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
3Gain-
AC006064.6-
-
-
-
1Loss-
AC006254.1-
-
-
-
3Gain-
AC006518.7-
-
-
-
1Loss-
AC007040.2-
-
-
-
1Loss-
AC007240.1-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008073.3-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009336.2-
-
-
-
3Gain-
AC010197.2-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013717.1-
-
-
-
1Loss-
AC017083.3-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC020636.2-
-
-
-
3Gain-
AC021660.3-
-
-
-
1Loss-
AC022335.1-
-
-
-
1Loss-
AC022384.1-
-
-
-
3Gain-
AC022400.6-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC034102.2-
-
-
-
1Loss-
AC048338.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068547.1-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC068775.1-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC069257.3-
-
-
-
3Gain-
AC069368.1-
-
-
-
1Loss-
AC069444.2-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC079447.1-
-
-
-
3Gain-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
1Loss-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
3Gain-
AC092111.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC093899.2-
-
-
-
3Gain-
AC096887.1-
-
-
-
3Gain-
AC097104.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
3Gain-
AC097636.1-
-
-
-
3Gain-
AC097637.1-
-
-
-
3Gain-
AC098650.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
3Gain-
AC104452.1-
-
-
-
3Gain-
AC104472.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
1Loss-
AC108488.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
3Gain-
AC109829.1p.P98S
Missense
SNP
0.690
NDND-
AC112128.1-
-
-
-
1Loss-
AC112229.3-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC113348.2-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC124312.1-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
ACAA1-
-
-
-
3Gain-
ACAA2-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD11-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACIN1-
-
-
-
1Loss-
ACKR2-
-
-
-
3Gain-
ACKR4-
-
-
-
1Loss-
ACMSDp.R59C
Missense
SNP
0.195
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOX2-
-
-
-
3Gain-
ACOXL-
-
-
-
3Gain-
ACP1-
-
-
-
1Loss-
ACP6p.V404A
Missense
SNP
0.756
2--
ACPP-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTG2p.L350F
Missense
SNP
0.556
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTN1-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR1B-
-
-
-
3Gain-
ACTR2-
-
-
-
1Loss-
ACTR3-
-
-
-
3Gain-
ACTR6-
-
-
-
1Loss-
ACTR8-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ACVR1-
-
-
-
3Gain-
ACVR1B-
-
-
-
1Loss-
ACVR1C-
-
-
-
3Gain-
ACVR2A-
-
-
-
3Gain-
ACVR2B-
-
-
-
3Gain-
ACVRL1-
-
-
-
1Loss-
ACY1-
-
-
-
3Gain-
ACYP1-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM17-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM29p.P486S
Missense
SNP
0.463
2--
ADAM8-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2p.R213C
Missense
SNP
0.674
1Loss-
ADAMTS20p.P1071L
Missense
SNP
0.362
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS9-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY10p.P1054S
Missense
SNP
0.745
2--
ADCY2-
-
-
-
3Gain-
ADCY3-
-
-
-
1Loss-
ADCY4p.G188E
Missense
SNP
0.623
1Loss-
ADCY5-
-
-
-
1Loss-
ADCY6-
-
-
-
1Loss-
ADCY8p.E999K
Missense
SNP
0.564
2--
ADD2-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGBp.E1067K
Missense
SNP
0.426
2--
ADGRA1-
-
-
-
1Loss-
ADGRD1p.N437S
Missense
SNP
0.580
1Loss-
ADGRF3-
-
-
-
1Loss-
ADGRG7-
-
-
-
1Loss-
ADGRV1p.M523I
p.R3494T
Missense
Missense
SNP
SNP
0.709
0.253
1Loss-
ADI1-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADIPOR2-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADPRH-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRA2B-
-
-
-
3Gain-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
AEBP2-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF3-
-
-
-
3Gain-
AFF4-
-
-
-
1Loss-
AFTPH-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGAP4-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGBL5-
-
-
-
1Loss-
AGFG2-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
3Gain-
AGO2p.S189F
p.P155S
Missense
Missense
SNP
SNP
0.553
0.469
2--
AGPS-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGXT2-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK2-
-
-
-
1Loss-
AHRR-
-
-
-
3Gain-
AHSA1-
-
-
-
1Loss-
AHSG-
-
-
-
3Gain-
AICDA-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP3-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AKNAp.D29N
Missense
SNP
0.458
2--
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL359736.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL928654.3-
-
-
-
1Loss-
ALAS1-
-
-
-
3Gain-
ALCAM-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1L1-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALG10-
-
-
-
1Loss-
ALG10B-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALK-
-
-
-
1Loss-
ALKAL2-
-
-
-
1Loss-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALLC-
-
-
-
1Loss-
ALMS1p.S1601F
Missense
SNP
0.686
1Loss-
ALOX5-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALPK2p.W2067*
Nonsense
SNP
1.000
1Loss-
ALS2CL-
-
-
-
3Gain-
ALX1-
-
-
-
1Loss-
AMACR-
-
-
-
3Gain-
AMDHD1-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMER3-
-
-
-
3Gain-
AMHp.G433S
Missense
SNP
0.593
2--
AMHR2-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMIGO3-
-
-
-
3Gain-
AMMECR1L-
-
-
-
3Gain-
AMN-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMOTL2-
-
-
-
1Loss-
AMT-
-
-
-
3Gain-
ANAPC1-
-
-
-
3Gain-
ANAPC13-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPTL8p.V119M
Missense
SNP
0.500
2--
ANHX-
-
-
-
1Loss-
ANK2p.S274F
Missense
SNP
0.480
2--
ANK3-
-
-
-
1Loss-
ANKARp.L940F
Missense
SNP
0.777
3Gain-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3p.L655F
Missense
SNP
0.564
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKLE2-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD23-
-
-
-
3Gain-
ANKRD26-
-
-
-
1Loss-
ANKRD27p.L383F
Missense
SNP
0.404
2--
ANKRD28-
-
-
-
3Gain-
ANKRD29-
-
-
-
1Loss-
ANKRD30Ap.H1168Y
Missense
SNP
0.693
1Loss-
ANKRD30BL-
-
-
-
3Gain-
ANKRD31-
-
-
-
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD35p.P763S
Missense
SNP
0.781
2--
ANKRD36-
-
-
-
3Gain-
ANKRD36B-
-
-
-
3Gain-
ANKRD39-
-
-
-
3Gain-
ANKRD44-
-
-
-
3Gain-
ANKRD52-
-
-
-
1Loss-
ANKRD53-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANO10-
-
-
-
3Gain-
ANO2-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO8p.G1001E
Missense
SNP
0.481
2--
ANP32A-
-
-
-
1Loss-
ANP32D-
-
-
-
1Loss-
ANTXR1-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA4-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP2M1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
APAF1-
-
-
-
1Loss-
APBA2-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APCSp.W127*
Nonsense
SNP
0.739
2--
APEH-
-
-
-
3Gain-
APEX1-
-
-
-
1Loss-
APH1B-
-
-
-
1Loss-
APLFp.P419S
Missense
SNP
0.291
1Loss-
APOB-
-
-
-
1Loss-
APOBEC1-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOF-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APPL1-
-
-
-
3Gain-
APPL2-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARF4-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGEF3p.X368_splice
Splice_Site
SNP
0.500
2--
ARG2-
-
-
-
1Loss-
ARGFX-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP21p.L1281M
Missense
SNP
0.243
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP25-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP31-
-
-
-
1Loss-
ARHGAP39p.E314V
Missense
SNP
0.509
2--
ARHGAP5-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF25-
-
-
-
1Loss-
ARHGEF26-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
3Gain-
ARHGEF33-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF4-
-
-
-
3Gain-
ARHGEF40-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID2-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARID5A-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARIH2-
-
-
-
3Gain-
ARIH2OS-
-
-
-
3Gain-
ARL1-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
1Loss-
ARL14-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL5A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
1Loss-
ARL6IP4-
-
-
-
1Loss-
ARL6IP5-
-
-
-
3Gain-
ARL6IP6-
-
-
-
3Gain-
ARL8B-
-
-
-
3Gain-
ARMC1p.P28S
Missense
SNP
0.440
2--
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNTL2-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC3-
-
-
-
1Loss-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
3Gain-
ARRDC3-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP2p.K222E
Missense
SNP
0.725
1Loss-
ASB13-
-
-
-
1Loss-
ASB14-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB3-
-
-
-
1Loss-
ASB4-
-
-
-
3Gain-
ASB8-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASIC1-
-
-
-
1Loss-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASNSD1-
-
-
-
3Gain-
ASPG-
-
-
-
1Loss-
ASPHD1p.G85K
Missense
MNP
0.473
2--
ASPRV1-
-
-
-
1Loss-
ASTE1-
-
-
-
1Loss-
ASTL-
-
-
-
3Gain-
ASTN2p.S157L
Missense
SNP
0.463
2--
ASUNp.D417N
Missense
SNP
0.681
NDND-
ASXL2-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD1p.G63R
Missense
SNP
0.729
1Loss-
ATAD2B-
-
-
-
1Loss-
ATAD3Ap.Y559H
Missense
SNP
0.266
2--
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF2p.P496L
Missense
SNP
0.794
3Gain-
ATF7-
-
-
-
1Loss-
ATF7IPp.H1132Y
Missense
SNP
0.342
1Loss-
ATG10-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG3-
-
-
-
1Loss-
ATG7-
-
-
-
3Gain-
ATL1-
-
-
-
1Loss-
ATL2-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOH8-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP12A-
-
-
-
1Loss-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2B2-
-
-
-
3Gain-
ATP2C1-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5MC2-
-
-
-
1Loss-
ATP5MC3-
-
-
-
3Gain-
ATP5MD-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1A-
-
-
-
1Loss-
ATP6V1B1-
-
-
-
1Loss-
ATP6V1C2-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2p.R537K
Missense
SNP
0.721
2--
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATRp.L1707F
Missense
SNP
0.476
3Gain-
ATRAID-
-
-
-
1Loss-
ATRIP-
-
-
-
3Gain-
ATRNL1-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
1Loss-
AUP1-
-
-
-
1Loss-
AURKBp.P204_K216del
In_Frame_Del
DEL
0.223
2--
AUTS2-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXLp.G864R
Missense
SNP
0.493
2--
AZGP1-
-
-
-
3Gain-
AZI2-
-
-
-
3Gain-
B2M-
-
-
-
1Loss-
B3GALNT1-
-
-
-
3Gain-
B3GALT1-
-
-
-
3Gain-
B3GLCT-
-
-
-
1Loss-
B3GNT2-
-
-
-
1Loss-
B3GNT4-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT9p.G296R
Missense
SNP
0.504
2--
B4GALNT1-
-
-
-
1Loss-
B4GALNT3-
-
-
-
1Loss-
B4GALT4-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
B4GALT7-
-
-
-
1Loss-
BABAM2-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BAP1-
-
-
-
3Gain-
BASP1-
-
-
-
3Gain-
BATF-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BAZ1B-
-
-
-
3Gain-
BAZ2A-
-
-
-
1Loss-
BAZ2B-
-
-
-
3Gain-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS5-
-
-
-
3Gain-
BBXp.N656I
Missense
SNP
1.000
1Loss-
BCAMp.X627_splice
Splice_Site
SNP
0.505
2--
BCAP29-
-
-
-
3Gain-
BCAT1-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCHE-
-
-
-
3Gain-
BCL11A-
-
-
-
1Loss-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L11-
-
-
-
3Gain-
BCL2L14-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6p.Y58H
Missense
SNP
0.417
3Gain-
BCL7A-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BDH1-
-
-
-
3Gain-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST3-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BFSP2-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BHLHE40-
-
-
-
3Gain-
BHLHE41-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICDL1-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIN2-
-
-
-
1Loss-
BIRC3p.E478K
Missense
SNP
0.526
2--
BIRC6-
-
-
-
1Loss-
BIRC8p.P203S
Missense
SNP
0.532
2--
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP10-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMP5p.P263L
Missense
SNP
0.504
2--
BMPR1A-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
3Gain-
BNIP1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BOC-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOLA3-
-
-
-
1Loss-
BOLL-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIp.G257E
Missense
SNP
0.427
2--
BRAF-
-
-
-
3Gain-
BRAP-
-
-
-
1Loss-
BRCA2-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRF1-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRI3BP-
-
-
-
1Loss-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
3Gain-
BRMS1L-
-
-
-
1Loss-
BRPF1-
-
-
-
3Gain-
BRSK1p.P457L
Missense
SNP
0.418
2--
BSN-
-
-
-
3Gain-
BTAF1-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD9p.R62*
Nonsense
SNP
0.541
2--
BTD-
-
-
-
3Gain-
BTF3-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTLA-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB1p.P322L
Missense
SNP
0.218
3Gain-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BX005040.4-
-
-
-
NDNDCNTNAP3C--BX005040.4
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf54p.D61N
Missense
SNP
0.351
NDND-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf84p.R26K
Missense
SNP
0.510
NDND-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf4-
-
-
-
1Loss-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf49-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60p.M184Nfs*14
Frame_Shift_Del
DEL
0.563
1Loss-
C12orf65-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C12orf76-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C1D-
-
-
-
1Loss-
C1GALT1C1L-
-
-
-
1Loss-
C1QL2-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QL4-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD5-
-
-
-
1Loss-
C2orf15-
-
-
-
3Gain-
C2orf16-
-
-
-
1Loss-
C2orf40-
-
-
-
3Gain-
C2orf42-
-
-
-
1Loss-
C2orf49-
-
-
-
3Gain-
C2orf50-
-
-
-
1Loss-
C2orf66-
-
-
-
3Gain-
C2orf68-
-
-
-
1Loss-
C2orf70-
-
-
-
1Loss-
C2orf73-
-
-
-
1Loss-
C2orf74-
-
-
-
1Loss-
C2orf76-
-
-
-
3Gain-
C2orf78-
-
-
-
1Loss-
C2orf81-
-
-
-
1Loss-
C2orf88-
-
-
-
3Gain-
C2orf91-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf14-
-
-
-
3Gain-
C3orf18-
-
-
-
3Gain-
C3orf20-
-
-
-
3Gain-
C3orf22-
-
-
-
1Loss-
C3orf30-
-
-
-
1Loss-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
3Gain-
C3orf49-
-
-
-
3Gain-
C3orf52-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf58-
-
-
-
3Gain-
C3orf62-
-
-
-
3Gain-
C3orf67-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf84-
-
-
-
3Gain-
C3orf85-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6p.K859T
Missense
SNP
0.849
3Gain-
C6orf132p.P97F
Missense
MNP
0.387
2--
C7-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf34p.E436K
Missense
SNP
0.392
2--
C9-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABP1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA1D-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
3Gain-
CACNA2D3-
-
-
-
3Gain-
CACNA2D4-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNB3-
-
-
-
1Loss-
CACNB4-
-
-
-
3Gain-
CACUL1-
-
-
-
1Loss-
CAD-
-
-
-
1Loss-
CADM2p.X170_splice
Splice_Site
SNP
0.385
3Gain-
CADPS-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALCOCO1-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALCRL-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM2-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
3Gain-
CAMK1D-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMK4-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMKV-
-
-
-
3Gain-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
3Gain-
CAND1p.P1002S
Missense
SNP
0.368
1Loss-
CAND2-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAPG-
-
-
-
1Loss-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPN3-
-
-
-
1Loss-
CAPN7-
-
-
-
3Gain-
CAPRIN2-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
1Loss-
CARD6-
-
-
-
3Gain-
CARMIL2p.G1150E
Missense
SNP
0.531
2--
CARMIL3-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC1-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP7-
-
-
-
1Loss-
CASP8p.E170*
Nonsense
SNP
0.687
2--
CASR-
-
-
-
1Loss-
CAST-
-
-
-
1Loss-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERBp.P880Q
Missense
SNP
0.242
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
3Gain-
CAVIN2-
-
-
-
3Gain-
CBLp.P596S
Missense
SNP
0.478
2--
CBLB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBWD2-
-
-
-
3Gain-
CBX5-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC12-
-
-
-
3Gain-
CCDC121-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
3Gain-
CCDC136p.E7K
Missense
SNP
0.535
3Gain-
CCDC138-
-
-
-
3Gain-
CCDC14-
-
-
-
1Loss-
CCDC141-
-
-
-
3Gain-
CCDC142-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC148-
-
-
-
3Gain-
CCDC15p.P594S
Missense
SNP
0.488
2--
CCDC150-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC168p.G4294R
p.S2307L
Missense
Missense
SNP
SNP
0.700
0.580
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC173-
-
-
-
3Gain-
CCDC174-
-
-
-
3Gain-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC184-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC191-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC36-
-
-
-
3Gain-
CCDC38-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
3Gain-
CCDC53p.D164N
Missense
SNP
0.722
NDND-
CCDC54-
-
-
-
1Loss-
CCDC58-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC66-
-
-
-
3Gain-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC74A-
-
-
-
3Gain-
CCDC77p.K273N
Missense
SNP
0.675
1Loss-
CCDC80-
-
-
-
1Loss-
CCDC85A-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88Ap.E416K
Missense
SNP
0.247
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC91-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCDC93-
-
-
-
3Gain-
CCDC9B-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCK-
-
-
-
3Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCNA1-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCND2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNO-
-
-
-
1Loss-
CCNT1-
-
-
-
1Loss-
CCNT2-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
3Gain-
CCR2-
-
-
-
3Gain-
CCR3-
-
-
-
3Gain-
CCR4-
-
-
-
3Gain-
CCR5-
-
-
-
3Gain-
CCR8-
-
-
-
3Gain-
CCR9-
-
-
-
3Gain-
CCRL2-
-
-
-
3Gain-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT4-
-
-
-
1Loss-
CCT5-
-
-
-
3Gain-
CCT7-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD2p.G114E
Missense
SNP
0.671
2--
CD200-
-
-
-
1Loss-
CD200R1-
-
-
-
1Loss-
CD200R1L-
-
-
-
1Loss-
CD207-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD27-
-
-
-
1Loss-
CD302-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD4-
-
-
-
1Loss-
CD47-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD80-
-
-
-
1Loss-
CD86-
-
-
-
1Loss-
CD8A-
-
-
-
1Loss-
CD8B-
-
-
-
1Loss-
CD8B2-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CD96-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDC42EP3-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDCA3-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA7-
-
-
-
3Gain-
CDCP1-
-
-
-
3Gain-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH15p.R812Q
Missense
SNP
0.467
2--
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR1p.V507G
Missense
SNP
0.325
1Loss-
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
3Gain-
CDK1-
-
-
-
1Loss-
CDK14-
-
-
-
3Gain-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK2AP1-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDK9p.E68K
Missense
SNP
0.550
2--
CDKL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2Ap.R80*
Nonsense
SNP
1.000
2--
CDKN2AIPNL-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDV3-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CEACAM19p.E70K
Missense
SNP
0.462
2--
CEACAM20p.P571S
Missense
SNP
0.444
2--
CEBPE-
-
-
-
1Loss-
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELSR3-
-
-
-
3Gain-
CENPA-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPO-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP290-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CEP55-
-
-
-
1Loss-
CEP63-
-
-
-
1Loss-
CEP68-
-
-
-
1Loss-
CEP70-
-
-
-
3Gain-
CEP72-
-
-
-
3Gain-
CEP78p.P627S
Missense
SNP
0.521
2--
CEP83-
-
-
-
1Loss-
CEP97-
-
-
-
1Loss-
CERKL-
-
-
-
3Gain-
CERS5-
-
-
-
1Loss-
CERS6-
-
-
-
3Gain-
CES4Ap.W461*
Nonsense
SNP
0.495
2--
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP221-
-
-
-
3Gain-
CFAP36-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54p.Q3037H
Missense
SNP
0.583
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
1Loss-
CFC1-
-
-
-
3Gain-
CFC1B-
-
-
-
3Gain-
CFL2-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CGGBP1-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CGREF1-
-
-
-
1Loss-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAC2-
-
-
-
1Loss-
CHAMP1p.P363L
Missense
SNP
0.648
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
3Gain-
CHCHD5-
-
-
-
3Gain-
CHCHD6-
-
-
-
1Loss-
CHD1-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
3Gain-
CHFR-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHL1-
-
-
-
3Gain-
CHMP2B-
-
-
-
3Gain-
CHMP3-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHN1-
-
-
-
3Gain-
CHN2p.G62R
p.L410V
Missense
Missense
SNP
SNP
0.467
0.358
2--
CHP1-
-
-
-
1Loss-
CHPT1-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM2p.L154F
Missense
SNP
0.515
3Gain-
CHRM5-
-
-
-
1Loss-
CHRNA1-
-
-
-
3Gain-
CHRNA7-
-
-
-
1Loss-
CHRNB4p.P161S
Missense
SNP
0.481
2--
CHST10-
-
-
-
3Gain-
CHST11-
-
-
-
1Loss-
CHST13-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST2-
-
-
-
3Gain-
CHST3-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO1-
-
-
-
3Gain-
CIAO2A-
-
-
-
1Loss-
CIB4-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
3Gain-
CILP-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIP2A-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIR1-
-
-
-
3Gain-
CISD1-
-
-
-
1Loss-
CISH-
-
-
-
3Gain-
CIT-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP2L-
-
-
-
3Gain-
CKAP4-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLASP1-
-
-
-
3Gain-
CLASP2-
-
-
-
3Gain-
CLBA1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDND1-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3B-
-
-
-
3Gain-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4Fp.*590Qext*58
Nonstop
SNP
0.520
1Loss-
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLHC1-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLIP2-
-
-
-
3Gain-
CLIP4-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
1Loss-
CLPTM1L-
-
-
-
3Gain-
CLPX-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLRN3-
-
-
-
1Loss-
CLSTN2p.E398K
Missense
SNP
0.580
3Gain-
CLSTN3-
-
-
-
1Loss-
CLTB-
-
-
-
1Loss-
CLVS2p.D43N
Missense
SNP
0.433
2--
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
3Gain-
CMKLR1-
-
-
-
1Loss-
CMPK2-
-
-
-
1Loss-
CMSS1-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
3Gain-
CMTM7-
-
-
-
3Gain-
CMTM8-
-
-
-
3Gain-
CMYA5-
-
-
-
1Loss-
CNBP-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA3-
-
-
-
3Gain-
CNIH1-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM3-
-
-
-
3Gain-
CNNM4-
-
-
-
3Gain-
CNOT10-
-
-
-
3Gain-
CNOT11-
-
-
-
3Gain-
CNOT2-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY2-
-
-
-
1Loss-
CNPY4-
-
-
-
3Gain-
CNRIP1-
-
-
-
1Loss-
CNTN1-
-
-
-
1Loss-
CNTN3p.L743F
p.R674W
p.S640F
Missense
Missense
Missense
SNP
SNP
SNP
0.373
0.614
0.347
3Gain-
CNTN4-
-
-
-
3Gain-
CNTN6-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
2-CNTNAP3C--BX005040.4
CNTNAP5-
-
-
-
3Gain-
COA5-
-
-
-
3Gain-
COBLL1-
-
-
-
3Gain-
COCH-
-
-
-
1Loss-
COG3-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG6-
-
-
-
1Loss-
COL11A1p.P1496L
Missense
SNP
0.239
2--
COL13A1-
-
-
-
1Loss-
COL14A1p.G1722E
Missense
SNP
0.443
2--
COL17A1-
-
-
-
1Loss-
COL1A2p.V567A
p.G574S
Missense
Missense
SNP
SNP
0.603
0.408
3Gain-
COL20A1p.E70K
p.E110K
Missense
Missense
SNP
SNP
0.495
0.459
2--
COL21A1p.K878I
Missense
SNP
0.479
2--
COL23A1-
-
-
-
1Loss-
COL24A1p.G1429E
Missense
SNP
0.734
2--
COL26A1-
-
-
-
3Gain-
COL2A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL5A2-
-
-
-
3Gain-
COL6A5-
-
-
-
1Loss-
COL6A6p.T1438I
Missense
SNP
1.000
1Loss-
COL7A1-
-
-
-
3Gain-
COL8A1-
-
-
-
1Loss-
COLEC11-
-
-
-
1Loss-
COLEC12p.D719N
Missense
SNP
0.520
2--
COLQ-
-
-
-
3Gain-
COMMD1-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD6-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS6-
-
-
-
3Gain-
COPS7A-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ10B-
-
-
-
3Gain-
COQ5-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
CORO2B-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX17-
-
-
-
1Loss-
COX5B-
-
-
-
3Gain-
COX6A1-
-
-
-
1Loss-
COX7A2L-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6p.L214F
Missense
SNP
0.431
2--
CPAMD8p.G810S
Missense
SNP
0.535
2--
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE4-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE8-
-
-
-
1Loss-
CPNE9-
-
-
-
3Gain-
CPOX-
-
-
-
1Loss-
CPPED1p.Y220F
Missense
SNP
0.452
2--
CPS1p.S440F
Missense
SNP
0.807
2--
CPSF2-
-
-
-
1Loss-
CPSF3p.G18K
Missense
MNP
0.255
1Loss-
CPSF4-
-
-
-
3Gain-
CPSF4Lp.G52E
Missense
SNP
0.500
2--
CPSF6-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CRACR2A-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRBN-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREBL2-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CREG2-
-
-
-
3Gain-
CRELD1-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRIM1-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIPT-
-
-
-
1Loss-
CRMP1p.P334S
Missense
SNP
0.607
2--
CROT-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAP-
-
-
-
3Gain-
CRY1p.P319S
Missense
SNP
0.639
1Loss-
CRYBG3-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CSp.S451F
Missense
SNP
0.220
1Loss-
CSAD-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RBp.G6E
p.P118S
Missense
Missense
SNP
SNP
0.619
0.516
2--
CSGALNACT2-
-
-
-
1Loss-
CSMD1p.P1122L
Missense
SNP
0.534
2--
CSMD2p.F308L
Missense
SNP
0.694
2--
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1G1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSPG5-
-
-
-
3Gain-
CSRNP1-
-
-
-
3Gain-
CSRNP2-
-
-
-
1Loss-
CSRNP3-
-
-
-
3Gain-
CSRP2-
-
-
-
1Loss-
CSTA-
-
-
-
1Loss-
CSTF2T-
-
-
-
1Loss-
CSTL1p.N40S
Missense
SNP
0.429
2--
CTBP2-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTDSPL-
-
-
-
3Gain-
CTDSPL2-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA2-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNNB1-
-
-
-
3Gain-
CTNND2-
-
-
-
3Gain-
CTSG-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUL5p.P304S
Missense
SNP
0.483
2--
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC22-
-
-
-
3Gain-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CX3CR1-
-
-
-
3Gain-
CXCL12-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCR4-
-
-
-
3Gain-
CXCR6-
-
-
-
3Gain-
CXXC1-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561D2-
-
-
-
3Gain-
CYB5A-
-
-
-
1Loss-
CYBRD1-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYP11B1p.P197S
Missense
SNP
0.364
2--
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27B1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9p.E148K
Missense
SNP
0.609
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP51A1-
-
-
-
3Gain-
CYP8B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYS1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTIP-
-
-
-
3Gain-
DAAM1-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DACH1-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAG1-
-
-
-
3Gain-
DALRD3-
-
-
-
3Gain-
DAO-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
3Gain-
DAPK2-
-
-
-
1Loss-
DAPL1-
-
-
-
3Gain-
DARS-
-
-
-
3Gain-
DAZAP2-
-
-
-
1Loss-
DAZL-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBI-
-
-
-
3Gain-
DBN1-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DBX2-
-
-
-
1Loss-
DCAF1-
-
-
-
3Gain-
DCAF11-
-
-
-
1Loss-
DCAF17-
-
-
-
3Gain-
DCAF4-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCANP1-
-
-
-
1Loss-
DCBLD2-
-
-
-
1Loss-
DCCp.R446H
p.L880H
Missense
Missense
SNP
SNP
1.000
0.990
1Loss-
DCD-
-
-
-
1Loss-
DCDC2C-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLK3-
-
-
-
3Gain-
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCN-
-
-
-
1Loss-
DCP1A-
-
-
-
3Gain-
DCP1B-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCT-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DCUN1D4p.P277S
Missense
SNP
0.516
2--
DDHD1-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDX1-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX18-
-
-
-
3Gain-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX3Xp.P40S
Missense
SNP
1.000
NDND-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX51-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55p.X134_splice
p.E243K
Splice_Site
Missense
SNP
SNP
0.656
0.427
1Loss-
DDX60Lp.V280G
Missense
SNP
0.457
2--
DEGS2-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND2Cp.S114F
Missense
SNP
0.695
2--
DENND4A-
-
-
-
1Loss-
DENND5Bp.I610V
Missense
SNP
0.642
1Loss-
DENND6A-
-
-
-
3Gain-
DENR-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKBp.D528N
Missense
SNP
0.602
2--
DGKDp.L1076F
Missense
SNP
0.734
2--
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKI-
-
-
-
3Gain-
DGLUCY-
-
-
-
1Loss-
DGUOK-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
1Loss-
DHH-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS9-
-
-
-
3Gain-
DHTKD1-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
3Gain-
DHX32-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DHX37-
-
-
-
1Loss-
DHX57-
-
-
-
1Loss-
DHX58p.S585L
Missense
SNP
0.492
2--
DIABLO-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRAS3p.R108W
Missense
SNP
0.723
2--
DIRC1-
-
-
-
3Gain-
DIRC2-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3L-
-
-
-
1Loss-
DISP1p.R547C
Missense
SNP
0.762
2--
DISP2-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
3Gain-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG5-
-
-
-
1Loss-
DLGAP1p.S503F
Missense
SNP
0.481
2--
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX1-
-
-
-
3Gain-
DLX2-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMRT2p.D298N
Missense
SNP
0.440
2--
DMTF1-
-
-
-
3Gain-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAH1-
-
-
-
3Gain-
DNAH10-
-
-
-
1Loss-
DNAH12-
-
-
-
3Gain-
DNAH5-
-
-
-
3Gain-
DNAH6-
-
-
-
1Loss-
DNAH7-
-
-
-
3Gain-
DNAH8p.E2071Kfs*28
Frame_Shift_Del
DEL
0.434
2--
DNAJB11-
-
-
-
3Gain-
DNAJB12-
-
-
-
1Loss-
DNAJB8-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC10-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC22-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC30-
-
-
-
3Gain-
DNAJC5G-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNASE1L3p.P142L
Missense
SNP
0.369
3Gain-
DNASE2Bp.I221N
Missense
SNP
0.698
2--
DND1-
-
-
-
1Loss-
DNM1p.E167K
Missense
SNP
0.505
2--
DNM1L-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
3Gain-
DOCK4-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOK1-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH3-
-
-
-
3Gain-
DPH6-
-
-
-
1Loss-
DPP10-
-
-
-
3Gain-
DPP4-
-
-
-
3Gain-
DPP8-
-
-
-
1Loss-
DPPA2-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPPA4-
-
-
-
1Loss-
DPY19L2-
-
-
-
1Loss-
DPY30-
-
-
-
1Loss-
DPYSp.G62E
Missense
SNP
0.452
2--
DPYSL3-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DPYSL5-
-
-
-
1Loss-
DQX1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRC1-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD3-
-
-
-
1Loss-
DRG2p.A22T
Missense
SNP
0.496
2--
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSELp.I697M
Missense
SNP
1.000
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DTD1p.T38S
Missense
SNP
0.292
2--
DTD2-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTX3-
-
-
-
1Loss-
DTX3L-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
1Loss-
DUSP11-
-
-
-
1Loss-
DUSP13-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP19-
-
-
-
3Gain-
DUSP2-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DUSP7-
-
-
-
3Gain-
DUT-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1I2-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
3Gain-
DYNC2LI1-
-
-
-
1Loss-
DYNLL1-
-
-
-
1Loss-
DYRK2-
-
-
-
1Loss-
DYRK4-
-
-
-
1Loss-
DYSF-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
1Loss-
E2F6-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
EAF1-
-
-
-
3Gain-
EAF2-
-
-
-
1Loss-
EAPP-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBF2p.P58S
Missense
SNP
0.489
2--
EBF3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
3Gain-
EBPL-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
EDAR-
-
-
-
3Gain-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EDRF1p.E390K
Missense
SNP
0.242
1Loss-
EEA1-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEFSEC-
-
-
-
1Loss-
EFCAB10-
-
-
-
3Gain-
EFCAB11-
-
-
-
1Loss-
EFCAB12-
-
-
-
1Loss-
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
1Loss-
EFEMP1-
-
-
-
1Loss-
EFHB-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFR3B-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGFp.Q1112*
Nonsense
SNP
0.479
2--
EGFLAM-
-
-
-
3Gain-
EGLN3-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR4-
-
-
-
1Loss-
EHBP1-
-
-
-
1Loss-
EHD3-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EID1-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF1B-
-
-
-
3Gain-
EIF2A-
-
-
-
3Gain-
EIF2AK2-
-
-
-
1Loss-
EIF2AK3-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B1-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2B4-
-
-
-
1Loss-
EIF2B5-
-
-
-
3Gain-
EIF2S1-
-
-
-
1Loss-
EIF2S3B-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4B-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
3Gain-
EIPR1-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMOD3-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP6-
-
-
-
3Gain-
ELSPBP1p.G163R
Missense
SNP
0.540
2--
EMB-
-
-
-
1Loss-
EMC3-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMG1-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EML1-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML5p.D728N
Missense
SNP
0.654
1Loss-
EML6-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMX1-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
EN1-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOU-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPEPp.K754R
Missense
SNP
0.460
2--
ENPP2p.P899S
Missense
SNP
0.559
2--
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
3Gain-
ENTPD5-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EOGT-
-
-
-
3Gain-
EOMES-
-
-
-
3Gain-
EP400p.P44L
Missense
SNP
0.226
1Loss-
EPAS1-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L5-
-
-
-
3Gain-
EPB42-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
3Gain-
EPCAM-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA3-
-
-
-
3Gain-
EPHA4p.Q156*
Nonsense
SNP
0.279
2--
EPHA6-
-
-
-
1Loss-
EPHB1-
-
-
-
1Loss-
EPHB3-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EPYC-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERBINp.S274L
Missense
SNP
0.771
1Loss-
ERC1-
-
-
-
1Loss-
ERC2-
-
-
-
3Gain-
ERCC3-
-
-
-
3Gain-
ERCC5-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERICH2-
-
-
-
3Gain-
ERICH3p.E1129K
p.S282F
Missense
Missense
SNP
SNP
0.264
0.295
2--
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERLEC1-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMN-
-
-
-
3Gain-
ERO1A-
-
-
-
1Loss-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETAA1-
-
-
-
1Loss-
ETF1-
-
-
-
1Loss-
ETFBKMT-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETV5-
-
-
-
3Gain-
ETV6-
-
-
-
1Loss-
EVA1A-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVX2-
-
-
-
3Gain-
EXD1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXOC3-
-
-
-
3Gain-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOC6B-
-
-
-
1Loss-
EXOG-
-
-
-
3Gain-
EXOSC1-
-
-
-
1Loss-
EXOSC7-
-
-
-
3Gain-
EXOSC8-
-
-
-
1Loss-
EYA4p.P235T
Missense
SNP
0.447
2--
EYSp.W3018*
Nonsense
SNP
0.525
2--
F10-
-
-
-
1Loss-
F12-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F7-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAHD2B-
-
-
-
3Gain-
FAIM-
-
-
-
3Gain-
FAIM2-
-
-
-
1Loss-
FAM107A-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM110C-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM136A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151Ap.V31L
Missense
SNP
0.645
2--
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM161A-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM162A-
-
-
-
1Loss-
FAM168B-
-
-
-
3Gain-
FAM169A-
-
-
-
1Loss-
FAM169Bp.A51T
Missense
SNP
0.356
2--
FAM170A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1p.S68L
Missense
SNP
0.332
1Loss-
FAM171B-
-
-
-
3Gain-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM178B-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM181A-
-
-
-
1Loss-
FAM184Ap.M510T
Missense
SNP
0.456
2--
FAM185A-
-
-
-
3Gain-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM188Ap.K64R
Missense
SNP
0.694
NDND-
FAM189A1-
-
-
-
1Loss-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
3Gain-
FAM19A1-
-
-
-
3Gain-
FAM19A2-
-
-
-
1Loss-
FAM19A4-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM204A-
-
-
-
1Loss-
FAM208A-
-
-
-
3Gain-
FAM208B-
-
-
-
1Loss-
FAM214A-
-
-
-
1Loss-
FAM216A-
-
-
-
1Loss-
FAM216B-
-
-
-
1Loss-
FAM21Cp.Q937*
Nonsense
SNP
0.440
NDND-
FAM222A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM234B-
-
-
-
1Loss-
FAM240A-
-
-
-
3Gain-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM3D-
-
-
-
3Gain-
FAM43A-
-
-
-
3Gain-
FAM45A-
-
-
-
1Loss-
FAM46Dp.E119K
Missense
SNP
1.000
NDND-
FAM49A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM81A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM84A-
-
-
-
1Loss-
FAM98A-
-
-
-
1Loss-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FANCL-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAP-
-
-
-
3Gain-
FAR2-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASTKD1-
-
-
-
3Gain-
FASTKD3-
-
-
-
3Gain-
FAT2p.I2574del
In_Frame_Del
DEL
0.615
1Loss-
FAT4p.D2747N
Missense
SNP
0.451
2--
FAXDC2-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN2-
-
-
-
3Gain-
FBLN5-
-
-
-
1Loss-
FBLN7p.D100N
Missense
SNP
0.178
3Gain-
FBN1-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBRSL1-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL14-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL2-
-
-
-
3Gain-
FBXL22-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXO11-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16p.W219*
Nonsense
SNP
0.486
2--
FBXO21-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO40-
-
-
-
1Loss-
FBXO41-
-
-
-
1Loss-
FBXO45-
-
-
-
3Gain-
FBXO48-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
3Gain-
FBXW4-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L5p.H107Y
Missense
SNP
0.198
3Gain-
FERMT2-
-
-
-
1Loss-
FETUB-
-
-
-
3Gain-
FEZ2-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
3Gain-
FFAR4-
-
-
-
1Loss-
FGD4-
-
-
-
1Loss-
FGD5-
-
-
-
3Gain-
FGD6-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF12-
-
-
-
3Gain-
FGF14-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR3p.Y375C
Missense
SNP
0.517
2--
FGFR4-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FHIT-
-
-
-
3Gain-
FHL2-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FIGLA-
-
-
-
1Loss-
FIGN-
-
-
-
3Gain-
FIGNL2-
-
-
-
1Loss-
FILIP1Lp.A915V
Missense
SNP
1.000
1Loss-
FIS1-
-
-
-
3Gain-
FITM1-
-
-
-
1Loss-
FKBP11-
-
-
-
1Loss-
FKBP1B-
-
-
-
1Loss-
FKBP3-
-
-
-
1Loss-
FKBP4-
-
-
-
1Loss-
FKBP6-
-
-
-
3Gain-
FKBP7-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLNB-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLRT2-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLT4-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FLYWCH1p.P208S
Missense
SNP
0.516
2--
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMNL2-
-
-
-
3Gain-
FMNL3-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC4-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXA1-
-
-
-
1Loss-
FOXB1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD4L1-
-
-
-
3Gain-
FOXG1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXI3-
-
-
-
1Loss-
FOXJ2-
-
-
-
1Loss-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1-
-
-
-
1Loss-
FOXN2-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FOXP1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FPGT-TNNI3Kp.S196A
Missense
SNP
0.201
2--
FRA10AC1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM2p.R3007Q
Missense
SNP
0.604
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
3Gain-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
3Gain-
FRMD5p.Y29N
Missense
SNP
0.647
1Loss-
FRMD6-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRS2-
-
-
-
1Loss-
FRS3p.D348Y
Missense
SNP
0.379
2--
FRY-
-
-
-
1Loss-
FRYLp.P72S
Missense
SNP
0.527
2--
FRZB-
-
-
-
3Gain-
FSCBp.P460S
p.T420I
p.S177*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.667
0.591
0.652
1Loss-
FSCN3-
-
-
-
3Gain-
FSHR-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSIP2-
-
-
-
3Gain-
FST-
-
-
-
1Loss-
FSTL1-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FSTL5p.E66K
Missense
SNP
0.481
2--
FTMT-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUT11-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FUT9p.D228N
Missense
SNP
0.574
2--
FXR1-
-
-
-
3Gain-
FXYD4-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYCO1-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD10-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
G2E3-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G6PC2-
-
-
-
3Gain-
GABARAPL1-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABRA1-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR3-
-
-
-
1Loss-
GAD1-
-
-
-
3Gain-
GAD2-
-
-
-
1Loss-
GADL1-
-
-
-
3Gain-
GAL3ST4-
-
-
-
3Gain-
GALC-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11p.I214Nfs*2
Frame_Shift_Ins
INS
0.341
2--
GALNT13-
-
-
-
3Gain-
GALNT14-
-
-
-
1Loss-
GALNT15-
-
-
-
3Gain-
GALNT16-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNT3-
-
-
-
3Gain-
GALNT5-
-
-
-
3Gain-
GALNT6-
-
-
-
1Loss-
GALNT8-
-
-
-
1Loss-
GALNT9-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAP43-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAREM2-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GATC-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBE1-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GCp.E431K
Missense
SNP
0.373
2--
GCA-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCC2-
-
-
-
3Gain-
GCFC2-
-
-
-
1Loss-
GCG-
-
-
-
3Gain-
GCH1-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCKR-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCNT3-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCOM1-
-
-
-
1Loss-
GCSAM-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF7-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GEMIN2-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN6-
-
-
-
1Loss-
GEMIN8p.A41V
Missense
SNP
1.000
NDND-
GEN1-
-
-
-
1Loss-
GFM1-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GFPT1-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GGACT-
-
-
-
1Loss-
GGCX-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
3Gain-
GHRL-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIN1p.N360S
Missense
SNP
0.691
1Loss-
GIT2-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJB2-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GJC3-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GKN1-
-
-
-
1Loss-
GKN2-
-
-
-
1Loss-
GLB1-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLI1-
-
-
-
1Loss-
GLI2-
-
-
-
3Gain-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLOD4p.P5L
Missense
SNP
0.455
2--
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLS-
-
-
-
3Gain-
GLS2-
-
-
-
1Loss-
GLT1D1-
-
-
-
1Loss-
GLT8D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYCTK-
-
-
-
3Gain-
GM2A-
-
-
-
1Loss-
GMCL1-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMFB-
-
-
-
1Loss-
GMNC-
-
-
-
3Gain-
GMPPB-
-
-
-
3Gain-
GMPR2-
-
-
-
1Loss-
GMPS-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
3Gain-
GNAT1-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG11-
-
-
-
3Gain-
GNG2-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNLY-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNPTABp.V1086I
Missense
SNP
0.297
1Loss-
GNS-
-
-
-
1Loss-
GOLGA3-
-
-
-
1Loss-
GOLGA4-
-
-
-
3Gain-
GOLGA5-
-
-
-
1Loss-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L22-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8K-
-
-
-
1Loss-
GOLGA8M-
-
-
-
1Loss-
GOLGA8N-
-
-
-
1Loss-
GOLGA8O-
-
-
-
1Loss-
GOLGA8Q-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLGA8T-
-
-
-
1Loss-
GOLGB1p.R319K
Missense
SNP
1.000
1Loss-
GOLIM4-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GOLT1B-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GORASP1-
-
-
-
3Gain-
GORASP2-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
1Loss-
GPALPP1-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT3p.G377E
Missense
SNP
0.520
2--
GPATCH11-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1-
-
-
-
1Loss-
GPD1L-
-
-
-
3Gain-
GPD2-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPN1-
-
-
-
1Loss-
GPN3-
-
-
-
1Loss-
GPR12-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR148-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
1Loss-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR155-
-
-
-
3Gain-
GPR156-
-
-
-
1Loss-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR17-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR22-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
3Gain-
GPR33-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR39-
-
-
-
3Gain-
GPR45-
-
-
-
3Gain-
GPR62-
-
-
-
3Gain-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPX1-
-
-
-
3Gain-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX5p.P80S
Missense
SNP
0.516
2--
GPX8-
-
-
-
1Loss-
GRAMD1C-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB14-
-
-
-
3Gain-
GREB1-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GRHL1-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN2Cp.W369*
Nonsense
SNP
0.408
2--
GRIN3Ap.P912S
Missense
SNP
0.594
2--
GRIP1-
-
-
-
1Loss-
GRIP2-
-
-
-
3Gain-
GRK1-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM2-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM6-
-
-
-
1Loss-
GRM7-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSC-
-
-
-
1Loss-
GSG1-
-
-
-
1Loss-
GSK3B-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTM5p.G143R
Missense
SNP
0.253
2--
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GTDC1-
-
-
-
3Gain-
GTF2A1-
-
-
-
1Loss-
GTF2A1L-
-
-
-
1Loss-
GTF2A2-
-
-
-
1Loss-
GTF2E1-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3A-
-
-
-
1Loss-
GTF3C2-
-
-
-
1Loss-
GTF3C3-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
1Loss-
GTSF1-
-
-
-
1Loss-
GUCA1C-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GXYLT1-
-
-
-
1Loss-
GXYLT2-
-
-
-
3Gain-
GYG1-
-
-
-
3Gain-
GYPC-
-
-
-
3Gain-
GYS2-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H3F3C-
-
-
-
1Loss-
HAAO-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
1Loss-
HACD3-
-
-
-
1Loss-
HACL1-
-
-
-
3Gain-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO1p.E120K
Missense
SNP
0.402
2--
HAPLN1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAT1-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCFC2-
-
-
-
1Loss-
HCLS1-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HDAC11-
-
-
-
3Gain-
HDAC3-
-
-
-
1Loss-
HDAC5p.S226F
Missense
SNP
0.559
2--
HDAC7-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEATR4p.G340R
Missense
SNP
0.636
1Loss-
HEATR5A-
-
-
-
1Loss-
HEATR5B-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECTD4p.S234L
Missense
SNP
0.597
1Loss-
HECW2-
-
-
-
3Gain-
HEG1-
-
-
-
1Loss-
HELB-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELZp.Q1511*
Nonsense
SNP
0.540
2--
HEMK1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERC1-
-
-
-
1Loss-
HERC2p.E323Q
Missense
SNP
0.830
1Loss-
HERC4-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HESX1-
-
-
-
3Gain-
HEXB-
-
-
-
1Loss-
HGD-
-
-
-
1Loss-
HGF-
-
-
-
3Gain-
HGFACp.G32R
Missense
SNP
0.556
2--
HHATL-
-
-
-
3Gain-
HHEX-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHLA2-
-
-
-
1Loss-
HIBCH-
-
-
-
3Gain-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
1Loss-
HIPK2-
-
-
-
3Gain-
HIST4H4-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HK2-
-
-
-
1Loss-
HK3-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HLA-DQB2p.P151L
Missense
SNP
0.385
2--
HLA-DRAp.I238F
Missense
SNP
0.552
2--
HLTF-
-
-
-
3Gain-
HLXp.P8L
Missense
SNP
0.318
2--
HMCES-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1A-
-
-
-
1Loss-
HNMT-
-
-
-
3Gain-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPA3-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPKp.P254L
Missense
SNP
0.475
2--
HNRNPLL-
-
-
-
1Loss-
HNRNPUL1p.A362S
Missense
SNP
0.478
2--
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK1p.R288K
Missense
SNP
0.752
2--
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HOXD1-
-
-
-
3Gain-
HOXD10-
-
-
-
3Gain-
HOXD11-
-
-
-
3Gain-
HOXD12-
-
-
-
3Gain-
HOXD13-
-
-
-
3Gain-
HOXD3-
-
-
-
3Gain-
HOXD4-
-
-
-
3Gain-
HOXD8-
-
-
-
3Gain-
HOXD9-
-
-
-
3Gain-
HPCAL1-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
3Gain-
HRH2-
-
-
-
1Loss-
HRH4-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS1BP3-
-
-
-
1Loss-
HS6ST1-
-
-
-
3Gain-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSP90B1-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA2-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB3-
-
-
-
1Loss-
HSPB8-
-
-
-
1Loss-
HSPBAP1-
-
-
-
1Loss-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HSPH1-
-
-
-
1Loss-
HTD2-
-
-
-
3Gain-
HTR1A-
-
-
-
1Loss-
HTR1F-
-
-
-
3Gain-
HTR2A-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3Ep.X94_splice
Splice_Site
SNP
0.643
3Gain-
HTR4-
-
-
-
1Loss-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA2-
-
-
-
1Loss-
HUWE1p.V3587E
Missense
SNP
1.000
NDND-
HVCN1-
-
-
-
1Loss-
HYAL1-
-
-
-
3Gain-
HYAL2-
-
-
-
3Gain-
HYAL3-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDINp.E4601K
p.E3785K
Missense
Missense
SNP
SNP
0.263
0.493
2--
HYPK-
-
-
-
1Loss-
IAH1-
-
-
-
1Loss-
IAPP-
-
-
-
1Loss-
ICAM5p.R10Q
Missense
SNP
0.661
2--
ICE1-
-
-
-
3Gain-
ICE2-
-
-
-
1Loss-
ID2-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDUAp.Q63*
Nonsense
SNP
0.431
2--
IER3IP1-
-
-
-
1Loss-
IFFO1-
-
-
-
1Loss-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFIH1-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFNG-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
3Gain-
IFT122-
-
-
-
1Loss-
IFT172-
-
-
-
1Loss-
IFT22-
-
-
-
3Gain-
IFT43-
-
-
-
1Loss-
IFT57-
-
-
-
1Loss-
IFT80-
-
-
-
3Gain-
IFT81-
-
-
-
1Loss-
IFT88-
-
-
-
1Loss-
IGDCC3p.D713N
Missense
SNP
0.340
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGFBP6-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV2-26p.S91F
Missense
SNP
0.260
NDND-
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
1Loss-
IGSF22p.P802T
Missense
SNP
0.451
2--
IGSF3p.R654P
Missense
SNP
0.615
2--
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
1Loss-
IKBKAPp.E740K
Missense
SNP
0.576
NDND-
IKZF4-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17Bp.G18E
Missense
SNP
0.728
1Loss-
IL17RB-
-
-
-
3Gain-
IL17RCp.Q383Rfs*50
Frame_Shift_Del
DEL
0.403
3Gain-
IL17RDp.G718A
Missense
SNP
0.468
3Gain-
IL17RE-
-
-
-
3Gain-
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL1A-
-
-
-
3Gain-
IL1B-
-
-
-
3Gain-
IL1F10-
-
-
-
3Gain-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RAP-
-
-
-
3Gain-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL1RN-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL22-
-
-
-
1Loss-
IL23A-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL26-
-
-
-
1Loss-
IL27p.G121R
Missense
SNP
0.544
2--
IL2RA-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL36A-
-
-
-
3Gain-
IL36B-
-
-
-
3Gain-
IL36G-
-
-
-
3Gain-
IL36RN-
-
-
-
3Gain-
IL37-
-
-
-
3Gain-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMMT-
-
-
-
1Loss-
IMP4p.E74K
Missense
SNP
0.239
3Gain-
IMPACTp.L77P
Missense
SNP
1.000
1Loss-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
3Gain-
IMPG2-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INCENPp.R333C
Missense
SNP
0.452
2--
INF2-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
ING3p.P162S
Missense
SNP
0.368
3Gain-
ING4-
-
-
-
1Loss-
INHBB-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INKA1-
-
-
-
3Gain-
INO80-
-
-
-
1Loss-
INO80Bp.S192F
Missense
SNP
0.644
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP1-
-
-
-
3Gain-
INPP4A-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5Jp.S280F
Missense
SNP
0.621
2--
INSIG2-
-
-
-
3Gain-
INSM2-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS13-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
INTS7p.L688Ffs*13
Frame_Shift_Del
DEL
0.196
2--
IP6K1-
-
-
-
3Gain-
IP6K2-
-
-
-
3Gain-
IPMK-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7p.L547P
Missense
SNP
0.448
2--
IPO8-
-
-
-
1Loss-
IQCB1p.X470_splice
Splice_Site
SNP
1.000
1Loss-
IQCD-
-
-
-
1Loss-
IQCF1-
-
-
-
3Gain-
IQCF2-
-
-
-
3Gain-
IQCF3-
-
-
-
3Gain-
IQCF5-
-
-
-
3Gain-
IQCF6-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCH-
-
-
-
1Loss-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQGAP1p.G1342R
Missense
SNP
0.590
2--
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
3Gain-
IQSEC3-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IRAK2-
-
-
-
3Gain-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRF9-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISCA2-
-
-
-
1Loss-
ISCU-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISM2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ITFG2-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA4-
-
-
-
3Gain-
ITGA5-
-
-
-
1Loss-
ITGA6-
-
-
-
3Gain-
ITGA7-
-
-
-
1Loss-
ITGA8p.K253*
Nonsense
SNP
0.369
1Loss-
ITGA9-
-
-
-
3Gain-
ITGAVp.D379N
Missense
SNP
0.802
3Gain-
ITGB1-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
1Loss-
ITGB4p.F1145I
Missense
SNP
0.483
2--
ITGB5-
-
-
-
1Loss-
ITGB6-
-
-
-
3Gain-
ITGB7-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
3Gain-
ITIH2-
-
-
-
1Loss-
ITIH3-
-
-
-
3Gain-
ITIH4-
-
-
-
3Gain-
ITIH5p.R215H
Missense
SNP
0.463
1Loss-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPR1-
-
-
-
3Gain-
ITPR2-
-
-
-
1Loss-
ITPRID2-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
3Gain-
ITSN2-
-
-
-
1Loss-
IVD-
-
-
-
1Loss-
IWS1-
-
-
-
3Gain-
JADE2-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
3Gain-
JAKMIP2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JARID2p.G876E
Missense
SNP
1.000
2--
JCAD-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD6p.D368N
Missense
SNP
0.471
2--
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
KALRN-
-
-
-
1Loss-
KANSL1Lp.D185V
Missense
SNP
0.226
2--
KANSL2-
-
-
-
1Loss-
KANSL3-
-
-
-
3Gain-
KAT2B-
-
-
-
3Gain-
KAT5p.R3Q
Missense
SNP
0.505
2--
KAT6B-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZNp.S389F
Missense
SNP
0.714
2--
KBTBD12-
-
-
-
1Loss-
KBTBD13-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
3Gain-
KCMF1-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNC2-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNF1-
-
-
-
1Loss-
KCNG1p.Y40H
Missense
SNP
0.549
2--
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNH3-
-
-
-
1Loss-
KCNH5-
-
-
-
1Loss-
KCNH7-
-
-
-
3Gain-
KCNH8-
-
-
-
3Gain-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP4p.M216I
Missense
SNP
0.476
2--
KCNJ3-
-
-
-
3Gain-
KCNJ8-
-
-
-
1Loss-
KCNK10-
-
-
-
1Loss-
KCNK12-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK3-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNMB4-
-
-
-
1Loss-
KCNN1p.P86S
Missense
SNP
0.500
2--
KCNN2-
-
-
-
1Loss-
KCNQ2p.G92R
Missense
SNP
0.472
2--
KCNQ3p.P574L
Missense
SNP
0.692
2--
KCNRG-
-
-
-
1Loss-
KCNS3-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD1-
-
-
-
1Loss-
KCTD10-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELC1-
-
-
-
1Loss-
KDM2B-
-
-
-
1Loss-
KDM3A-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM5A-
-
-
-
1Loss-
KDM6Bp.G964E
Missense
SNP
1.000
2--
KDM7A-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KERA-
-
-
-
1Loss-
KHK-
-
-
-
1Loss-
KHNYN-
-
-
-
1Loss-
KIAA0391-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
1Loss-
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
1Loss-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
1Loss-
KIAA1462p.S1123F
Missense
SNP
0.596
NDND-
KIAA1468p.R572K
Missense
SNP
1.000
NDND-
KIAA1549p.E499K
Missense
SNP
0.435
3Gain-
KIAA1551-
-
-
-
1Loss-
KIAA1715p.E320K
Missense
SNP
0.806
NDND-
KIAA1841-
-
-
-
1Loss-
KIAA2012p.K855Q
Missense
SNP
0.231
2--
KIDINS220-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF15-
-
-
-
3Gain-
KIF1Ap.R985C
Missense
SNP
0.214
2--
KIF1BP-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
1Loss-
KIF23-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3C-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
3Gain-
KIF9-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KIR2DL3p.G64R
Missense
SNP
0.212
2--
KIR3DL1p.P432S
Missense
SNP
0.459
2--
KITLG-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLF11-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
1Loss-
KLHDC8Ap.S111N
Missense
SNP
0.749
2--
KLHDC8B-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL18-
-
-
-
3Gain-
KLHL23-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL28-
-
-
-
1Loss-
KLHL29-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL33p.P199S
Missense
SNP
0.297
1Loss-
KLHL40-
-
-
-
3Gain-
KLHL41-
-
-
-
3Gain-
KLHL42-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLLN-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KLRK1-
-
-
-
1Loss-
KMT2D-
-
-
-
1Loss-
KMT2E-
-
-
-
3Gain-
KMT5A-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPNA1-
-
-
-
1Loss-
KPNA3p.D59Ifs*13
Frame_Shift_Del
DEL
0.413
1Loss-
KPNA4-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPTNp.L46F
Missense
SNP
0.510
2--
KRAS-
-
-
-
1Loss-
KRBOX1-
-
-
-
3Gain-
KRCC1-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
KRT39p.Q129*
Nonsense
SNP
0.462
2--
KRT4-
-
-
-
1Loss-
KRT5p.X406_splice
p.E68K
Splice_Site
Missense
SNP
SNP
0.580
0.514
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71-
-
-
-
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74-
-
-
-
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84-
-
-
-
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRTCAP3-
-
-
-
1Loss-
KSR2-
-
-
-
1Loss-
KTN1-
-
-
-
1Loss-
KY-
-
-
-
1Loss-
KYNU-
-
-
-
3Gain-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL3p.G562R
Missense
SNP
0.489
2--
LACC1-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LAG3-
-
-
-
1Loss-
LALBA-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LAPTM4A-
-
-
-
1Loss-
LARGE2p.Q503*
Nonsense
SNP
0.452
2--
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS2-
-
-
-
1Loss-
LAYNp.Q283*
Nonsense
SNP
0.488
2--
LBH-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LBX2-
-
-
-
1Loss-
LCLAT1-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LCT-
-
-
-
3Gain-
LCTL-
-
-
-
1Loss-
LDAH-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDHB-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEMD3-
-
-
-
1Loss-
LEO1-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LETMD1-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS4p.L108V
Missense
SNP
0.508
2--
LGALSL-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LHCGR-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
3Gain-
LHFPL6-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX5-
-
-
-
1Loss-
LIFR-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LIMA1-
-
-
-
1Loss-
LIMD1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIMS1-
-
-
-
3Gain-
LIMS2-
-
-
-
3Gain-
LIMS3-
-
-
-
3Gain-
LIMS3-LOC440895-
-
-
-
3Gain-
LIMS4-
-
-
-
3Gain-
LIN52p.W3*
Nonsense
SNP
0.564
1Loss-
LIN7A-
-
-
-
1Loss-
LIN7Bp.*116Yext*?
Nonstop
SNP
0.650
2--
LINC02203-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
3Gain-
LIPT2p.G186E
Missense
SNP
0.461
2--
LIX1-
-
-
-
1Loss-
LLCFC1-
-
-
-
3Gain-
LLPH-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMAN2L-
-
-
-
3Gain-
LMBR1L-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
3Gain-
LMLN-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
3Gain-
LMTK2p.G1084D
Missense
SNP
0.417
3Gain-
LNP1-
-
-
-
1Loss-
LNPEP-
-
-
-
1Loss-
LNPK-
-
-
-
3Gain-
LNX2-
-
-
-
1Loss-
LONRF2-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL3-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT1-
-
-
-
3Gain-
LPCAT3-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPIN1-
-
-
-
1Loss-
LPOp.R544K
Missense
SNP
0.336
2--
LPP-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRCH3p.L790I
Missense
SNP
0.551
3Gain-
LRCH4-
-
-
-
3Gain-
LRCOL1-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIG1-
-
-
-
3Gain-
LRIG3-
-
-
-
1Loss-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP1B-
-
-
-
3Gain-
LRP2-
-
-
-
3Gain-
LRP6-
-
-
-
1Loss-
LRPPRC-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC10-
-
-
-
1Loss-
LRRC14B-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC2-
-
-
-
3Gain-
LRRC20-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC30p.P15L
Missense
SNP
0.609
2--
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC3B-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC43-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC58-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC74A-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRD1-
-
-
-
3Gain-
LRRFIP2-
-
-
-
3Gain-
LRRIQ1-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRK2-
-
-
-
1Loss-
LRRN1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRTM1-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRRTM4-
-
-
-
1Loss-
LRTM1-
-
-
-
3Gain-
LRTM2-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSAMP-
-
-
-
1Loss-
LSG1-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM3-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
3Gain-
LTA4H-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP1-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
3Gain-
LTK-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUM-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LY75-
-
-
-
3Gain-
LY75-CD302-
-
-
-
3Gain-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYPD1-
-
-
-
3Gain-
LYPD6-
-
-
-
3Gain-
LYPD6Bp.P205L
Missense
SNP
0.211
3Gain-
LYRM7-
-
-
-
1Loss-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYZ-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
3Gain-
LZTFL1-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
M1AP-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MAGEF1-
-
-
-
3Gain-
MAGEL2-
-
-
-
1Loss-
MAGI1-
-
-
-
3Gain-
MAGI2p.S8F
p.S58N
Missense
Missense
SNP
SNP
0.404
0.425
3Gain-
MAGOHB-
-
-
-
1Loss-
MALL-
-
-
-
3Gain-
MALRD1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAML1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MANF-
-
-
-
3Gain-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
1Loss-
MAP2K1-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP2K6p.P151S
Missense
SNP
0.439
2--
MAP3K1-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K19-
-
-
-
3Gain-
MAP3K2-
-
-
-
3Gain-
MAP3K20-
-
-
-
3Gain-
MAP3K8-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4-
-
-
-
3Gain-
MAP4K3-
-
-
-
1Loss-
MAP4K4-
-
-
-
3Gain-
MAP4K5-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MAPRE3-
-
-
-
1Loss-
MARCH11-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCH7-
-
-
-
3Gain-
MARCH8-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARCOp.P294S
Missense
SNP
0.813
3Gain-
MARK3-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MARS2-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MAST3p.L103F
Missense
SNP
0.536
2--
MAST4-
-
-
-
1Loss-
MASTL-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN3-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MAX-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBD5-
-
-
-
3Gain-
MBD6-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBOAT2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCEE-
-
-
-
1Loss-
MCF2Lp.D284N
Missense
SNP
0.219
1Loss-
MCF2L2-
-
-
-
3Gain-
MCFD2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
1Loss-
MCM6-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCRS1p.S121G
Missense
SNP
0.337
1Loss-
MCTP1-
-
-
-
1Loss-
MCU-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDGA2-
-
-
-
1Loss-
MDH1-
-
-
-
1Loss-
MDH2-
-
-
-
3Gain-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MECOM-
-
-
-
3Gain-
MED1p.P999L
Missense
SNP
0.466
2--
MED10-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED13L-
-
-
-
1Loss-
MED21-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MEIS1-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEMO1-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MEPCE-
-
-
-
3Gain-
MERTK-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1D-
-
-
-
3Gain-
METAP2-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL25-
-
-
-
1Loss-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL3-
-
-
-
1Loss-
METTL5-
-
-
-
3Gain-
METTL6-
-
-
-
3Gain-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
METTL8-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MFSD13A-
-
-
-
1Loss-
MFSD2B-
-
-
-
1Loss-
MFSD5-
-
-
-
1Loss-
MFSD6-
-
-
-
3Gain-
MFSD9-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT1-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT4A-
-
-
-
3Gain-
MGAT4B-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGAT5-
-
-
-
3Gain-
MGLL-
-
-
-
1Loss-
MGMT-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGST1p.X42_splice
Splice_Site
SNP
0.756
1Loss-
MIA2-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MINDY2-
-
-
-
1Loss-
MINDY3-
-
-
-
1Loss-
MINDY4B-
-
-
-
3Gain-
MINPP1-
-
-
-
1Loss-
MIP-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MITD1-
-
-
-
3Gain-
MITFp.R60P
Missense
SNP
0.442
3Gain-
MKI67-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MKRN3-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLF2-
-
-
-
1Loss-
MLH1-
-
-
-
3Gain-
MLH3-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLXIP-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MMAB-
-
-
-
1Loss-
MMADHC-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMP14-
-
-
-
1Loss-
MMP17-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MMS22Lp.G831R
p.T356I
Missense
Missense
SNP
SNP
0.455
0.498
2--
MNAT1-
-
-
-
1Loss-
MNS1-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB1A-
-
-
-
1Loss-
MOB4-
-
-
-
3Gain-
MOBP-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT3-
-
-
-
3Gain-
MOGS-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MON1A-
-
-
-
3Gain-
MON2-
-
-
-
1Loss-
MORC1-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MORN3-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MOSPD3-
-
-
-
3Gain-
MPHOSPH10-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP7p.K196Ffs*11
Frame_Shift_Del
DEL
0.516
1Loss-
MPV17-
-
-
-
1Loss-
MRAPp.L148F
Missense
SNP
0.535
2--
MRAS-
-
-
-
3Gain-
MRC1p.W714*
Nonsense
SNP
0.658
1Loss-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MRPL19-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL3-
-
-
-
1Loss-
MRPL30-
-
-
-
3Gain-
MRPL33-
-
-
-
1Loss-
MRPL35-
-
-
-
1Loss-
MRPL36-
-
-
-
3Gain-
MRPL42-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL49p.G133E
Missense
SNP
0.389
2--
MRPL51-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL53-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS25-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS33-
-
-
-
3Gain-
MRPS35-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS9-
-
-
-
3Gain-
MS4A14p.S410F
Missense
SNP
0.438
2--
MSGN1-
-
-
-
1Loss-
MSH2-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH6-
-
-
-
1Loss-
MSI1-
-
-
-
1Loss-
MSL2-
-
-
-
3Gain-
MSMB-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MSRB3-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MST1-
-
-
-
3Gain-
MST1R-
-
-
-
3Gain-
MSTN-
-
-
-
3Gain-
MSX2-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTA3-
-
-
-
1Loss-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
1Loss-
MTFMT-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTHFD1-
-
-
-
1Loss-
MTHFD2-
-
-
-
1Loss-
MTIF2-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR10-
-
-
-
1Loss-
MTMR12p.E581I
Missense
MNP
0.798
3Gain-
MTMR14-
-
-
-
3Gain-
MTMR6-
-
-
-
1Loss-
MTORp.L1642F
Missense
SNP
0.622
2--
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTUS2-
-
-
-
1Loss-
MTX2-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC12-
-
-
-
3Gain-
MUC13-
-
-
-
1Loss-
MUC17p.T452I
p.G2974N
Missense
Missense
SNP
MNP
0.382
0.331
3Gain-
MUC19-
-
-
-
1Loss-
MUC20-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MUC4p.D3821H
p.N3055T
Missense
Missense
SNP
SNP
0.217
0.282
3Gain-
MUCL1-
-
-
-
1Loss-
MUSTN1-
-
-
-
3Gain-
MVK-
-
-
-
1Loss-
MXD1-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MYBPC1-
-
-
-
1Loss-
MYBPC2p.S255N
Missense
SNP
0.504
2--
MYCBP2-
-
-
-
1Loss-
MYCN-
-
-
-
1Loss-
MYD88-
-
-
-
3Gain-
MYEF2-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1p.M1639I
Missense
SNP
0.544
2--
MYH15-
-
-
-
1Loss-
MYH4p.S1554F
Missense
SNP
1.000
2--
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL2-
-
-
-
1Loss-
MYL3-
-
-
-
3Gain-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYLK-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO10-
-
-
-
3Gain-
MYO16p.S473F
Missense
SNP
0.631
1Loss-
MYO18Ap.P163S
Missense
SNP
0.535
2--
MYO18Bp.D2373N
Missense
SNP
0.589
2--
MYO1A-
-
-
-
1Loss-
MYO1B-
-
-
-
3Gain-
MYO1Ep.L909V
Missense
SNP
0.404
1Loss-
MYO1H-
-
-
-
1Loss-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
3Gain-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO6p.H548Y
Missense
SNP
0.447
2--
MYO7B-
-
-
-
3Gain-
MYOF-
-
-
-
1Loss-
MYOM1p.W1263*
Nonsense
SNP
0.445
2--
MYOT-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPNp.G1026R
Missense
SNP
0.500
1Loss-
MYRFL-
-
-
-
1Loss-
MYRIP-
-
-
-
3Gain-
MYT1p.S932L
p.S935F
Missense
Missense
SNP
SNP
0.403
0.417
2--
MYT1L-
-
-
-
1Loss-
MYZAP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
MZT2A-
-
-
-
3Gain-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA25-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA50-
-
-
-
1Loss-
NAA80-
-
-
-
3Gain-
NAALADL2-
-
-
-
3Gain-
NAB1-
-
-
-
3Gain-
NAB2-
-
-
-
1Loss-
NABP1-
-
-
-
3Gain-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NAGK-
-
-
-
1Loss-
NAGLUp.P286L
Missense
SNP
0.528
2--
NAIP-
-
-
-
1Loss-
NALCNp.X1635_splice
Splice_Site
SNP
0.321
1Loss-
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NAP1L1-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT8-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NAXD-
-
-
-
1Loss-
NBAS-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL2-
-
-
-
3Gain-
NCAM2p.E654K
Missense
SNP
0.497
2--
NCAPD2-
-
-
-
1Loss-
NCAPH-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCK2-
-
-
-
3Gain-
NCKAP1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCKAP5-
-
-
-
3Gain-
NCKAP5Lp.T816Ffs*24
p.Q217*
Frame_Shift_Del
Nonsense
DEL
SNP
0.225
0.539
1Loss-
NCKIPSD-
-
-
-
3Gain-
NCOA1-
-
-
-
1Loss-
NCOA3p.P612F
Missense
MNP
0.482
2--
NCOA4-
-
-
-
1Loss-
NCOR1p.L200F
Missense
SNP
1.000
2--
NCOR2p.G2081R
Missense
SNP
0.381
1Loss-
NDFIP1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
1Loss-
NDUFA5-
-
-
-
3Gain-
NDUFA9-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
3Gain-
NDUFAF7-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB4-
-
-
-
1Loss-
NDUFB5-
-
-
-
3Gain-
NDUFB8-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
3Gain-
NDUFS7p.P137S
Missense
SNP
0.505
2--
NEB-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECAP1-
-
-
-
1Loss-
NECTIN3-
-
-
-
1Loss-
NEDD1-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEGR1p.G270R
Missense
SNP
0.293
2--
NEK10-
-
-
-
3Gain-
NEK11-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
3Gain-
NEK5-
-
-
-
1Loss-
NEK9-
-
-
-
1Loss-
NELL2-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NEMP2-
-
-
-
3Gain-
NEPRO-
-
-
-
1Loss-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEURL3-
-
-
-
3Gain-
NEUROD1-
-
-
-
3Gain-
NEUROD4-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NF1p.M799T
Missense
SNP
0.485
2--
NFATC1-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFE2L2-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFKB2-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFKBIDp.P23S
Missense
SNP
0.475
2--
NFKBIZ-
-
-
-
1Loss-
NFU1-
-
-
-
1Loss-
NFYB-
-
-
-
1Loss-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGLY1-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NICN1-
-
-
-
3Gain-
NID2p.T1033I
Missense
SNP
0.659
1Loss-
NIFK-
-
-
-
3Gain-
NIM1K-
-
-
-
3Gain-
NIN-
-
-
-
1Loss-
NINJ2-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NISCH-
-
-
-
3Gain-
NIT2-
-
-
-
1Loss-
NKD2-
-
-
-
3Gain-
NKIRAS1-
-
-
-
3Gain-
NKTR-
-
-
-
3Gain-
NKX1-2-
-
-
-
1Loss-
NKX2-1-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLN-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NLRP10p.P539S
Missense
SNP
0.494
2--
NLRP11p.P826S
Missense
SNP
0.474
2--
NLRP13p.D699N
Missense
SNP
0.475
2--
NLRP2p.S85F
Missense
SNP
0.452
2--
NLRP8p.Q624L
Missense
SNP
0.492
2--
NMD3-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMI-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMS-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NMUp.P126R
Missense
SNP
0.488
2--
NMUR2-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOC3L-
-
-
-
1Loss-
NOC4L-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOL10-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NONOp.Q284L
Missense
SNP
0.993
NDND-
NOP10-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS1-
-
-
-
1Loss-
NOSTRIN-
-
-
-
3Gain-
NOTCH1p.S1889F
p.Q1547*
Missense
Nonsense
SNP
SNP
0.446
0.508
2--
NOTCH3p.T612I
Missense
SNP
0.476
2--
NOTO-
-
-
-
1Loss-
NOTUMp.L249R
Missense
SNP
0.408
2--
NOVA1-
-
-
-
1Loss-
NOX3p.T192Sfs*79
Frame_Shift_Del
DEL
0.403
2--
NOX5-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAP1p.P1014S
Missense
SNP
0.670
1Loss-
NPAS2-
-
-
-
3Gain-
NPAS3-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPC2-
-
-
-
1Loss-
NPFF-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPHP1-
-
-
-
3Gain-
NPHP3-
-
-
-
1Loss-
NPHP3-ACAD11-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
3Gain-
NPS-
-
-
-
1Loss-
NPTX2-
-
-
-
3Gain-
NPY4R2-
-
-
-
1Loss-
NR1D2-
-
-
-
3Gain-
NR1H4-
-
-
-
1Loss-
NR1I2-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR2C2-
-
-
-
3Gain-
NR2F1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NR4A2-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP1-
-
-
-
1Loss-
NRCAMp.E1211K
Missense
SNP
0.466
3Gain-
NRDE2-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG2-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRIP1-
-
-
-
1LossNRIP1--SAMSN1
NRIP2-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRSN1p.E99D
Missense
SNP
1.000
2--
NRXN1-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSFp.K687N
Missense
SNP
0.477
1Loss-
NSG2-
-
-
-
1Loss-
NSMCE3-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1p.L540M
Missense
SNP
0.502
2--
NSUN2-
-
-
-
3Gain-
NSUN3-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5C1B-
-
-
-
1Loss-
NT5C1B-RDH14-
-
-
-
1Loss-
NT5C2-
-
-
-
1Loss-
NT5DC2-
-
-
-
3Gain-
NT5DC3-
-
-
-
1Loss-
NT5DC4-
-
-
-
3Gain-
NTF3-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTS-
-
-
-
1Loss-
NTSR2-
-
-
-
1Loss-
NUAK1-
-
-
-
1Loss-
NUBPL-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUMB-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP155p.P1002S
Missense
SNP
0.170
3Gain-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
3Gain-
NUP35-
-
-
-
3Gain-
NUP37-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2D-
-
-
-
1Loss-
NXPE3-
-
-
-
1Loss-
NXPH2-
-
-
-
3Gain-
NXPH4-
-
-
-
1Loss-
NYAP1-
-
-
-
3Gain-
NYNRIN-
-
-
-
1Loss-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OBSL1p.D803N
Missense
SNP
0.194
2--
OCA2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OCM2-
-
-
-
3Gain-
ODC1-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD2-
-
-
-
1Loss-
OGG1-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLA1-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML2Bp.D590N
Missense
SNP
0.703
2--
OLR1-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPALIN-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10P1p.P311S
Missense
SNP
0.674
1Loss-
OR10Q1p.M41I
Missense
SNP
0.538
2--
OR11G2p.S205F
Missense
SNP
0.333
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR13A1-
-
-
-
1Loss-
OR2AE1-
-
-
-
3Gain-
OR2AP1-
-
-
-
1Loss-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OR4D11p.R310K
Missense
SNP
0.473
2--
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13p.S53L
Missense
SNP
0.630
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4M2-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR51B4p.G254R
Missense
SNP
0.441
2--
OR5AC2-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5BS1P-
-
-
-
1Loss-
OR5H1-
-
-
-
1Loss-
OR5H14-
-
-
-
1Loss-
OR5H15-
-
-
-
1Loss-
OR5H2-
-
-
-
1Loss-
OR5H6-
-
-
-
1Loss-
OR5K1-
-
-
-
1Loss-
OR5K2-
-
-
-
1Loss-
OR5K3-
-
-
-
1Loss-
OR5K4-
-
-
-
1Loss-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR8B2p.D70N
Missense
SNP
0.483
2--
OR8S1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9K2-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORAI2-
-
-
-
3Gain-
ORC4-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORM2p.R38Q
Missense
SNP
0.182
2--
ORMDL1-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBPL10-
-
-
-
3Gain-
OSBPL11-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL6p.Q931R
Missense
SNP
0.146
3Gain-
OSBPL8-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGEPL1-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSR1-
-
-
-
1Loss-
OST4-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOF-
-
-
-
1Loss-
OTOGp.P674L
Missense
SNP
0.474
2--
OTOGL-
-
-
-
1Loss-
OTOL1-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD7A-
-
-
-
1Loss-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX1-
-
-
-
1Loss-
OTX2-
-
-
-
1Loss-
OVCH1-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXER1-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXLD1p.P83S
Missense
SNP
0.503
2--
OXNAD1-
-
-
-
3Gain-
OXSM-
-
-
-
3Gain-
OXSR1-
-
-
-
3Gain-
OXTR-
-
-
-
3Gain-
P2RX2-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P3H3-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
3Gain-
PA2G4-
-
-
-
1Loss-
PABPC3-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PAH-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAIP2B-
-
-
-
1Loss-
PAK2p.R450G
Missense
SNP
1.000
3Gain-
PAK5p.E294K
Missense
SNP
0.461
2--
PAK6-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK2p.P58L
Missense
SNP
0.456
2--
PANK3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLG-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR9-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARP11-
-
-
-
1Loss-
PARP12-
-
-
-
3Gain-
PARP14-
-
-
-
1Loss-
PARP15-
-
-
-
1Loss-
PARP16-
-
-
-
1Loss-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
3Gain-
PARP4-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PARP9p.P802L
Missense
SNP
1.000
1Loss-
PARPBP-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAX8-
-
-
-
3Gain-
PAX9-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBRM1-
-
-
-
3Gain-
PCARE-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP1-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCBP4-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH1-
-
-
-
1Loss-
PCDH11Xp.G1069R
Missense
SNP
1.000
NDND-
PCDH12-
-
-
-
1Loss-
PCDH15p.P515L
Missense
SNP
0.576
1Loss-
PCDH17p.E138K
p.G399S
Missense
Missense
SNP
SNP
0.712
0.785
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10p.N811S
Missense
SNP
0.381
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15p.G63E
Missense
SNP
0.274
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8p.S687L
Missense
SNP
0.685
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4p.P147L
Missense
SNP
0.300
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCED1B-
-
-
-
1Loss-
PCGF1-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCK1p.G8D
Missense
SNP
0.511
2--
PCK2-
-
-
-
1Loss-
PCLAF-
-
-
-
1Loss-
PCLOp.R2966C
p.G1364R
Missense
Missense
SNP
SNP
0.375
0.583
3Gain-
PCNP-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCNX4p.E605K
Missense
SNP
0.408
1Loss-
PCOLCEp.P413S
Missense
SNP
0.532
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCYOX1-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
3Gain-
PDCD7-
-
-
-
1Loss-
PDCL3-
-
-
-
3Gain-
PDE11A-
-
-
-
3Gain-
PDE12-
-
-
-
3Gain-
PDE1A-
-
-
-
3Gain-
PDE1B-
-
-
-
1Loss-
PDE3A-
-
-
-
1Loss-
PDE3Bp.M617I
Missense
SNP
0.500
2--
PDE4Cp.D60N
Missense
SNP
0.517
2--
PDE4D-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6H-
-
-
-
1Loss-
PDE8Bp.D476N
Missense
SNP
0.673
1Loss-
PDE9Ap.T219P
Missense
SNP
0.428
2--
PDGFDp.R275K
Missense
SNP
0.488
2--
PDGFRB-
-
-
-
1Loss-
PDHB-
-
-
-
3Gain-
PDIA3-
-
-
-
1Loss-
PDIA5-
-
-
-
1Loss-
PDIA6-
-
-
-
1Loss-
PDK1-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDS5Ap.T1160S
Missense
SNP
0.468
2--
PDS5B-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZD7-
-
-
-
1Loss-
PDZD8p.A216V
Missense
SNP
0.325
1Loss-
PDZRN3-
-
-
-
3Gain-
PDZRN4-
-
-
-
1Loss-
PEBP1-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PELI1-
-
-
-
1Loss-
PELI2-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PEX13-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PFDN1-
-
-
-
1Loss-
PFDN5-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKFB4-
-
-
-
3Gain-
PFKM-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PFN3-
-
-
-
1Loss-
PFN4-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM5-
-
-
-
1Loss-
PGAP1-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGF-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC3-
-
-
-
3Gain-
PHETA1-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF12p.S559F
Missense
SNP
0.463
2--
PHF24p.D372N
Missense
SNP
0.493
2--
PHF7-
-
-
-
3Gain-
PHGR1-
-
-
-
1Loss-
PHLDA1-
-
-
-
1Loss-
PHLDB2-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PIANP-
-
-
-
1Loss-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGF-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGRp.S528F
Missense
SNP
0.692
2--
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIK3AP1-
-
-
-
1Loss-
PIK3C2Ap.P841S
Missense
SNP
0.381
2--
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3R1-
-
-
-
1Loss-
PIK3R4-
-
-
-
1Loss-
PIKFYVEp.G1533E
Missense
SNP
0.786
2--
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM3p.G191S
Missense
SNP
0.617
2--
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4K2C-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PJVK-
-
-
-
3Gain-
PKD1L2p.G402S
Missense
SNP
0.458
2--
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKHD1L1p.W1061*
Nonsense
SNP
0.550
2--
PKP2-
-
-
-
1Loss-
PKP4-
-
-
-
3Gain-
PLA1A-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4Dp.X224_splice
Splice_Site
SNP
0.607
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2R1-
-
-
-
3Gain-
PLAC8L1-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLB1-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB1p.S196F
Missense
SNP
0.480
2--
PLCB2-
-
-
-
1Loss-
PLCD1p.F614I
Missense
SNP
0.545
3Gain-
PLCE1-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCL1-
-
-
-
3Gain-
PLCL2-
-
-
-
3Gain-
PLCXD2-
-
-
-
1Loss-
PLCXD3-
-
-
-
3Gain-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
3Gain-
PLD4-
-
-
-
1Loss-
PLECp.A1161V
Missense
SNP
0.521
2--
PLEK-
-
-
-
1Loss-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA3-
-
-
-
3Gain-
PLEKHA5-
-
-
-
1Loss-
PLEKHB2-
-
-
-
3Gain-
PLEKHD1-
-
-
-
1Loss-
PLEKHG2p.P756Q
Missense
SNP
0.508
2--
PLEKHG3-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHH2-
-
-
-
1Loss-
PLEKHN1p.R269C
Missense
SNP
0.240
2--
PLEKHO2-
-
-
-
1Loss-
PLEKHS1-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPP1-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PLXNB1-
-
-
-
3Gain-
PLXNB2p.P1037L
Missense
SNP
0.298
2--
PLXNC1-
-
-
-
1Loss-
PLXND1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS1-
-
-
-
3Gain-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNO1-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNPT1-
-
-
-
1Loss-
POC1A-
-
-
-
3Gain-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
1Loss-
POGLUT1-
-
-
-
1Loss-
POLEp.P441L
Missense
MNP
0.669
1Loss-
POLE2-
-
-
-
1Loss-
POLE4-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLQ-
-
-
-
1Loss-
POLR1A-
-
-
-
1Loss-
POLR1B-
-
-
-
3Gain-
POLR1D-
-
-
-
1Loss-
POLR2D-
-
-
-
3Gain-
POLR2Fp.X31_splice
Splice_Site
SNP
0.404
2--
POLR2H-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12p.P261Q
Missense
SNP
0.579
2--
POMC-
-
-
-
1Loss-
POMGNT2-
-
-
-
3Gain-
POMP-
-
-
-
1Loss-
POMT2-
-
-
-
1Loss-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP5-
-
-
-
1Loss-
POP7-
-
-
-
3Gain-
POPDC2-
-
-
-
1Loss-
POR-
-
-
-
3Gain-
POSTNp.G326E
p.R289K
Missense
Missense
SNP
SNP
0.356
0.272
1Loss-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEE-
-
-
-
3Gain-
POTEG-
-
-
-
1Loss-
POTEHp.P467L
Missense
MNP
0.129
2--
POTEI-
-
-
-
3Gain-
POTEJ-
-
-
-
3Gain-
POTEM-
-
-
-
1Loss-
POU1F1-
-
-
-
3Gain-
POU3F3-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
POU6F1-
-
-
-
1Loss-
PP2D1-
-
-
-
3Gain-
PPA1-
-
-
-
1Loss-
PPARG-
-
-
-
3Gain-
PPARGC1B-
-
-
-
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIA3p.S142F
Missense
SNP
0.558
2--
PPFIBP1-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIG-
-
-
-
3Gain-
PPIL1p.X94_splice
Splice_Site
SNP
0.474
2--
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1B-
-
-
-
1Loss-
PPM1Dp.Q524*
Nonsense
SNP
0.495
2--
PPM1Fp.Q276*
Nonsense
SNP
0.403
2--
PPM1G-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
3Gain-
PPP1CB-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R13Bp.R194C
Missense
SNP
0.333
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R1C-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R21-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R36-
-
-
-
1Loss-
PPP1R3A-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP1R9A-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP2R3C-
-
-
-
1Loss-
PPP2R5Cp.D206G
Missense
SNP
0.670
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3R1-
-
-
-
1Loss-
PPP4R2-
-
-
-
3Gain-
PPP4R3A-
-
-
-
1Loss-
PPP4R3B-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2L-
-
-
-
3Gain-
PQLC3-
-
-
-
1Loss-
PRADC1-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2p.G208R
Missense
SNP
0.333
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRDM15p.P414L
Missense
SNP
0.398
2--
PRDM4-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PREB-
-
-
-
1Loss-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREPL-
-
-
-
1Loss-
PRF1-
-
-
-
1Loss-
PRG2p.D38E
Missense
SNP
0.412
2--
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRICKLE2-
-
-
-
3Gain-
PRIM1-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAB1-
-
-
-
1Loss-
PRKAG1-
-
-
-
1Loss-
PRKAR2A-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCD-
-
-
-
3Gain-
PRKCE-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCI-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKD2p.S75F
Missense
SNP
0.420
2--
PRKD3-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKRA-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT5-
-
-
-
1Loss-
PRMT8-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROC-
-
-
-
3Gain-
PROK2-
-
-
-
3Gain-
PROKR1-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROS1-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROX2p.W121*
Nonsense
SNP
0.664
1Loss-
PROZ-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF39-
-
-
-
1Loss-
PRPF40A-
-
-
-
3Gain-
PRPF40B-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR35p.R291K
Missense
SNP
0.309
2--
PRR4-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2Bp.P1207L
Missense
SNP
0.531
2--
PRRT3-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS42p.Q149*
Nonsense
SNP
0.391
3Gain-
PRSS45-
-
-
-
3Gain-
PRSS50-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PSAP-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD2p.G107E
Missense
SNP
0.569
1Loss-
PSD4-
-
-
-
3Gain-
PSEN1-
-
-
-
1Loss-
PSG5p.G17R
Missense
SNP
0.546
2--
PSMA3-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMA8-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMC6-
-
-
-
1Loss-
PSMD1p.P119L
Missense
SNP
0.689
2--
PSMD14-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD6-
-
-
-
3Gain-
PSMD9-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSPC1-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTCD1-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCD3-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGES3-
-
-
-
1Loss-
PTGR2-
-
-
-
1Loss-
PTH1Rp.P532S
Missense
SNP
0.653
3Gain-
PTHLH-
-
-
-
1Loss-
PTMS-
-
-
-
1Loss-
PTN-
-
-
-
3Gain-
PTPN11-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN18-
-
-
-
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN22p.S538L
Missense
SNP
0.749
2--
PTPN23-
-
-
-
3Gain-
PTPN4-
-
-
-
3Gain-
PTPN6-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRDp.R1088C
Missense
SNP
1.000
2--
PTPRE-
-
-
-
1Loss-
PTPRG-
-
-
-
3Gain-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRZ1-
-
-
-
3Gain-
PTRHD1-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTX3-
-
-
-
3Gain-
PUM2-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PUS1-
-
-
-
1Loss-
PUS10-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PUS7L-
-
-
-
1Loss-
PVRIG-
-
-
-
3Gain-
PWP1-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDNp.S250T
Missense
SNP
0.618
1Loss-
PXK-
-
-
-
3Gain-
PXMP2-
-
-
-
1Loss-
PXN-
-
-
-
1Loss-
PXYLP1-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGBp.V65L
Missense
SNP
0.548
2--
PYGL-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYM1-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QARS-
-
-
-
3Gain-
QPCT-
-
-
-
1Loss-
QRICH1p.S570F
Missense
SNP
0.684
3Gain-
QTRT2-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
3Gain-
R3HDM2-
-
-
-
1Loss-
RAB10-
-
-
-
1Loss-
RAB11A-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP5-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB1A-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB21-
-
-
-
1Loss-
RAB24-
-
-
-
1Loss-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2B-
-
-
-
1Loss-
RAB35-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3GAP1-
-
-
-
3Gain-
RAB3IP-
-
-
-
1Loss-
RAB43-
-
-
-
1Loss-
RAB44p.P498S
Missense
SNP
0.458
2--
RAB5A-
-
-
-
3Gain-
RAB5B-
-
-
-
1Loss-
RAB6B-
-
-
-
1Loss-
RAB6C-
-
-
-
3Gain-
RAB6D-
-
-
-
3Gain-
RAB7A-
-
-
-
1Loss-
RAB8B-
-
-
-
1Loss-
RABGEF1-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABL2A-
-
-
-
3Gain-
RABL3-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51AP1p.V166F
Missense
SNP
0.685
1Loss-
RAD51AP2-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD52-
-
-
-
1Loss-
RAD54L2-
-
-
-
3Gain-
RAD9B-
-
-
-
1Loss-
RADILp.S1060Y
Missense
SNP
0.387
2--
RAF1-
-
-
-
3Gain-
RAI14-
-
-
-
3Gain-
RALB-
-
-
-
3Gain-
RALGAPA1-
-
-
-
1Loss-
RAN-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP2-
-
-
-
3Gain-
RANBP3L-
-
-
-
3Gain-
RAP1B-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF3-
-
-
-
1Loss-
RAPGEF4-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RARB-
-
-
-
3Gain-
RARG-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASAL1-
-
-
-
1Loss-
RASGEF1A-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP3p.W653*
Nonsense
SNP
0.631
1Loss-
RASL11A-
-
-
-
1Loss-
RASL12-
-
-
-
1Loss-
RASSF1-
-
-
-
3Gain-
RASSF3-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBBP6p.D204N
Missense
SNP
0.462
2--
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBKS-
-
-
-
1Loss-
RBM15B-
-
-
-
3Gain-
RBM17-
-
-
-
1Loss-
RBM19-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM43-
-
-
-
3Gain-
RBM45-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBM5-
-
-
-
3Gain-
RBM6-
-
-
-
3Gain-
RBMS1-
-
-
-
3Gain-
RBMS2-
-
-
-
1Loss-
RBMS3-
-
-
-
3Gain-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBPJp.R37Q
Missense
SNP
0.453
2--
RBPMS2-
-
-
-
1Loss-
RBSNp.S548F
Missense
SNP
0.398
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1L-
-
-
-
3Gain-
RCOR1-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH14-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECQL-
-
-
-
1Loss-
REEP1-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REG1A-
-
-
-
1Loss-
REG1B-
-
-
-
1Loss-
REG3A-
-
-
-
1Loss-
REG3G-
-
-
-
1Loss-
REL-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL2p.P284L
Missense
SNP
0.367
1Loss-
RELNp.N402I
Missense
SNP
0.390
3Gain-
REM2-
-
-
-
1Loss-
REP15-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RETp.D850N
Missense
SNP
0.432
1Loss-
RETNLB-
-
-
-
1Loss-
RETREG1-
-
-
-
3Gain-
RETSAT-
-
-
-
1Loss-
REV1-
-
-
-
3Gain-
RFC2-
-
-
-
3Gain-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFC5-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFLNA-
-
-
-
1Loss-
RFT1-
-
-
-
3Gain-
RFTN1-
-
-
-
3Gain-
RFTN2-
-
-
-
3Gain-
RFX4-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RFX8-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS14-
-
-
-
1Loss-
RGS6-
-
-
-
1Loss-
RGS7BP-
-
-
-
1Loss-
RHBDD2-
-
-
-
3Gain-
RHEBL1-
-
-
-
1Loss-
RHNO1-
-
-
-
1Loss-
RHO-
-
-
-
1Loss-
RHOA-
-
-
-
3Gain-
RHOB-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOQ-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RIC8B-
-
-
-
1Loss-
RICTORp.L532F
Missense
SNP
0.183
3Gain-
RIF1-
-
-
-
3Gain-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIN1p.S310Y
Missense
SNP
0.396
2--
RIN3-
-
-
-
1Loss-
RINT1-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIOX1-
-
-
-
1Loss-
RIOX2-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RITA1-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN2-
-
-
-
1Loss-
RMDN3-
-
-
-
1Loss-
RMND5A-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH1-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RND3-
-
-
-
3Gain-
RNF10-
-
-
-
1Loss-
RNF103-
-
-
-
1Loss-
RNF103-CHMP3-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF123-
-
-
-
3Gain-
RNF125-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF138-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF144A-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF149-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF17-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF181-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF223p.S201F
Missense
SNP
0.774
2--
RNF31-
-
-
-
1Loss-
RNF34-
-
-
-
1Loss-
RNF41-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNFT2-
-
-
-
1Loss-
RNLSp.G301E
Missense
SNP
0.663
1Loss-
RNPS1p.P267S
Missense
SNP
0.625
2--
ROBO1-
-
-
-
3Gain-
ROBO2-
-
-
-
3Gain-
ROCK2-
-
-
-
1Loss-
ROPN1-
-
-
-
1Loss-
ROPN1B-
-
-
-
1Loss-
ROPN1L-
-
-
-
3Gain-
RORA-
-
-
-
1Loss-
RP1p.K381T
Missense
SNP
0.504
2--
RP11-766F14.2p.S1747F
Missense
SNP
0.541
NDND-
RPAP1-
-
-
-
1Loss-
RPAP3-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL14-
-
-
-
3Gain-
RPL15-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
1Loss-
RPL26p.K77Nfs*21
Frame_Shift_Del
DEL
0.483
2--
RPL26L1-
-
-
-
1Loss-
RPL29-
-
-
-
3Gain-
RPL31-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL36AL-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPLP0-
-
-
-
1Loss-
RPLP1-
-
-
-
1Loss-
RPN1-
-
-
-
1Loss-
RPP14-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRM-
-
-
-
3Gain-
RPS14-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS26-
-
-
-
1Loss-
RPS27A-
-
-
-
1Loss-
RPS27L-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPS7-
-
-
-
1Loss-
RPSA-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RPUSD3-
-
-
-
3Gain-
RRM2-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RRP9-
-
-
-
3Gain-
RSAD2-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSL24D1-
-
-
-
1Loss-
RSRC1-
-
-
-
3Gain-
RSRC2-
-
-
-
1Loss-
RSU1-
-
-
-
1Loss-
RTF1-
-
-
-
1Loss-
RTKN-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1p.R146K
Missense
SNP
0.228
1Loss-
RTN1p.L612I
p.G155R
Missense
Missense
SNP
SNP
0.542
0.365
1Loss-
RTN4-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUVBL1-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RXYLT1-
-
-
-
1Loss-
RYBP-
-
-
-
3Gain-
RYK-
-
-
-
1Loss-
RYR2p.Q1949*
p.E2064K
Nonsense
Missense
SNP
SNP
0.188
0.173
2--
RYR3p.S3035F
Missense
SNP
0.660
1Loss-
S100Z-
-
-
-
1Loss-
SACM1L-
-
-
-
3Gain-
SACS-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD7-
-
-
-
3Gain-
SAMD8-
-
-
-
1Loss-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMSN1-
-
-
-
2-NRIP1--SAMSN1
SAP130-
-
-
-
3Gain-
SAP18-
-
-
-
1Loss-
SAP25-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SATB1-
-
-
-
3Gain-
SAV1-
-
-
-
1Loss-
SAXO1p.R123Q
Missense
SNP
1.000
2--
SBDS-
-
-
-
3Gain-
SBNO1-
-
-
-
1Loss-
SCAF11-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAP-
-
-
-
3Gain-
SCARB1-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1D2p.R74Q
Missense
SNP
0.491
2--
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCHIP1-
-
-
-
3Gain-
SCML2p.P295S
Missense
SNP
1.000
NDND-
SCN10A-
-
-
-
3Gain-
SCN11A-
-
-
-
3Gain-
SCN1A-
-
-
-
3Gain-
SCN2Ap.Q1838*
p.S1968F
Nonsense
Missense
SNP
SNP
0.793
0.771
3Gain-
SCN3A-
-
-
-
3Gain-
SCN5A-
-
-
-
3Gain-
SCN7A-
-
-
-
3Gain-
SCN8A-
-
-
-
1Loss-
SCN9A-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCRN3-
-
-
-
3Gain-
SCTR-
-
-
-
3Gain-
SCX-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDC1-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
3Gain-
SEC16Ap.D944N
Missense
SNP
0.434
2--
SEC22A-
-
-
-
1Loss-
SEC22C-
-
-
-
3Gain-
SEC23A-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC24Cp.P457L
Missense
SNP
0.404
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SEC62-
-
-
-
3Gain-
SECISBP2L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELENOI-
-
-
-
1Loss-
SELENOK-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SELPLG-
-
-
-
1Loss-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
3Gain-
SEMA3G-
-
-
-
3Gain-
SEMA4C-
-
-
-
3Gain-
SEMA4Dp.E637K
p.P586S
Missense
Missense
SNP
SNP
0.475
0.510
2--
SEMA4F-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
3Gain-
SEMA5B-
-
-
-
1Loss-
SEMA6Ap.G971C
Missense
SNP
0.298
1Loss-
SEMA6D-
-
-
-
1Loss-
SENP1-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPT10-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERAC1p.E516K
Missense
SNP
0.474
2--
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE1-
-
-
-
3Gain-
SERPINE3-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTAD2-
-
-
-
1Loss-
SERTM1-
-
-
-
1Loss-
SESTD1p.T79I
Missense
SNP
0.172
3Gain-
SETBP1-
-
-
-
1Loss-
SETD1B-
-
-
-
1Loss-
SETD2-
-
-
-
3Gain-
SETD3-
-
-
-
1Loss-
SETD5-
-
-
-
3Gain-
SETD9-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
3Gain-
SF3B1-
-
-
-
3Gain-
SF3B6-
-
-
-
1Loss-
SFMBT1-
-
-
-
3Gain-
SFMBT2-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFSWAP-
-
-
-
1Loss-
SFT2D1p.L116F
Missense
SNP
0.325
2--
SFTA3-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SFXN5-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCG-
-
-
-
1Loss-
SGIP1p.P579L
Missense
SNP
0.210
2--
SGMS1-
-
-
-
1Loss-
SGO1-
-
-
-
3Gain-
SGO2p.P670S
Missense
SNP
0.721
2--
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B1p.P184L
Missense
SNP
0.519
2--
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH2D6-
-
-
-
1Loss-
SH3BP5-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3RF3p.P575L
Missense
SNP
0.232
3Gain-
SH3TC2-
-
-
-
1Loss-
SH3YL1-
-
-
-
1Loss-
SHANK2p.P997S
Missense
SNP
0.678
2--
SHC2p.P582L
Missense
SNP
0.592
2--
SHC4p.S554Y
Missense
SNP
0.344
1Loss-
SHF-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA5-
-
-
-
3Gain-
SHISAL2B-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHQ1-
-
-
-
3Gain-
SHROOM1-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT4-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLC10A1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC11A2-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A5p.E806K
Missense
SNP
0.573
2--
SLC12A6-
-
-
-
1Loss-
SLC12A7-
-
-
-
3Gain-
SLC12A8-
-
-
-
1Loss-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2p.S643F
Missense
SNP
1.000
1Loss-
SLC15A4-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A7-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A3p.P260L
Missense
SNP
0.406
2--
SLC17A8p.S89F
Missense
SNP
0.589
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC1A3-
-
-
-
3Gain-
SLC1A4-
-
-
-
1Loss-
SLC1A5p.P509S
Missense
SNP
0.424
2--
SLC20A1-
-
-
-
3Gain-
SLC22A11p.X166_splice
Splice_Site
SNP
0.514
2--
SLC22A13-
-
-
-
3Gain-
SLC22A14-
-
-
-
3Gain-
SLC22A17-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC24A1-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A12-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A15-
-
-
-
1Loss-
SLC25A16-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
3Gain-
SLC25A21-
-
-
-
1Loss-
SLC25A26-
-
-
-
3Gain-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A36-
-
-
-
3Gain-
SLC25A38-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A14-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC2A3-
-
-
-
1Loss-
SLC30A3-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A6-
-
-
-
1Loss-
SLC33A1-
-
-
-
3Gain-
SLC34A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35E3-
-
-
-
1Loss-
SLC35F4-
-
-
-
1Loss-
SLC35F5-
-
-
-
3Gain-
SLC35F6-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A1-
-
-
-
1Loss-
SLC38A11-
-
-
-
3Gain-
SLC38A2-
-
-
-
1Loss-
SLC38A3-
-
-
-
3Gain-
SLC38A4-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A10-
-
-
-
3Gain-
SLC39A12p.G616R
Missense
SNP
0.290
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A4p.D319N
Missense
SNP
0.518
2--
SLC39A5-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC3A1-
-
-
-
1Loss-
SLC40A1-
-
-
-
3Gain-
SLC41A2-
-
-
-
1Loss-
SLC41A3-
-
-
-
1Loss-
SLC44A5p.R507Q
Missense
SNP
0.209
2--
SLC45A2-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC4A10p.E120K
Missense
SNP
0.738
3Gain-
SLC4A1AP-
-
-
-
1Loss-
SLC4A4p.P787S
Missense
SNP
0.492
2--
SLC4A5-
-
-
-
1Loss-
SLC4A7-
-
-
-
3Gain-
SLC4A8-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC5A7-
-
-
-
3Gain-
SLC5A8-
-
-
-
1Loss-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A20-
-
-
-
3Gain-
SLC6A3-
-
-
-
3Gain-
SLC6A6-
-
-
-
3Gain-
SLC6A7-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLC7A14-
-
-
-
3Gain-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A1-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A2-
-
-
-
3Gain-
SLC9A3-
-
-
-
3Gain-
SLC9A4-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C1p.L247F
Missense
SNP
1.000
1Loss-
SLC9C2p.N471K
Missense
SNP
0.742
2--
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1p.G546E
Missense
SNP
0.336
1Loss-
SLCO2A1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLMAP-
-
-
-
3Gain-
SLTM-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAGP-
-
-
-
1Loss-
SMARCC1-
-
-
-
3Gain-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMC3-
-
-
-
1Loss-
SMC4-
-
-
-
3Gain-
SMC6-
-
-
-
1Loss-
SMCO1-
-
-
-
3Gain-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM4-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
1Loss-
SMUG1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD1-
-
-
-
1Loss-
SMYD5-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAPC1-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNRK-
-
-
-
3Gain-
SNRNP200-
-
-
-
3Gain-
SNRNP27-
-
-
-
1Loss-
SNRNP35-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPG-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNTG2-
-
-
-
1Loss-
SNTN-
-
-
-
3Gain-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX17-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX22-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX4-
-
-
-
1Loss-
SNX6-
-
-
-
1Loss-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS5-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOHLH2p.L23F
Missense
SNP
0.229
1Loss-
SORBS1-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOWAHC-
-
-
-
3Gain-
SOX1-
-
-
-
1Loss-
SOX11-
-
-
-
1Loss-
SOX14-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX5-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP3-
-
-
-
3Gain-
SP5-
-
-
-
3Gain-
SP7-
-
-
-
1Loss-
SP9-
-
-
-
3Gain-
SPACA3p.S19F
Missense
SNP
0.447
2--
SPACA7-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPAST-
-
-
-
1Loss-
SPATA12-
-
-
-
3Gain-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA24-
-
-
-
1Loss-
SPATA31A1p.W1187*
Nonsense
SNP
0.657
2--
SPATA5L1-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATS2-
-
-
-
1Loss-
SPC25-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPDYA-
-
-
-
1Loss-
SPDYE3-
-
-
-
3Gain-
SPDYE6-
-
-
-
3Gain-
SPEF2-
-
-
-
3Gain-
SPEGp.P2893L
Missense
SNP
0.741
2--
SPERT-
-
-
-
1Loss-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPHKAPp.G425E
Missense
SNP
0.216
2--
SPIC-
-
-
-
1Loss-
SPICE1-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
3Gain-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOPL-
-
-
-
3Gain-
SPPL2A-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPR-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRED2-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPRYD3p.S57N
Missense
SNP
0.703
1Loss-
SPRYD4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTA1p.D1993N
Missense
SNP
0.758
2--
SPTB-
-
-
-
1Loss-
SPTBN1-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SPTSSB-
-
-
-
3Gain-
SPX-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRBD1-
-
-
-
1Loss-
SRD5A1-
-
-
-
3Gain-
SRD5A2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGAP3-
-
-
-
3Gain-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRPRB-
-
-
-
1Loss-
SRRM3-
-
-
-
3Gain-
SRRM4-
-
-
-
1Loss-
SRRTp.R50S
Missense
SNP
0.587
3Gain-
SRSF5-
-
-
-
1Loss-
SRSF7-
-
-
-
1Loss-
SRSF9-
-
-
-
1Loss-
SS18-
-
-
-
1Loss-
SS18L2-
-
-
-
3Gain-
SSB-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSH1-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSPN-
-
-
-
1Loss-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSTR1-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
SSUH2p.A18T
Missense
SNP
0.393
3Gain-
ST3GAL5-
-
-
-
1Loss-
ST3GAL6-
-
-
-
1Loss-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST8SIA1-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAB1-
-
-
-
3Gain-
STAB2-
-
-
-
1Loss-
STAC-
-
-
-
3Gain-
STAC3-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STAM-
-
-
-
1Loss-
STAM2-
-
-
-
3Gain-
STAMBP-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD3p.G205E
Missense
SNP
0.448
2--
STARD4-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
3Gain-
STARD9-
-
-
-
1Loss-
STAT1-
-
-
-
3Gain-
STAT2-
-
-
-
1Loss-
STAT4-
-
-
-
3Gain-
STAT6-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP3-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STIMATE-
-
-
-
3Gain-
STK10-
-
-
-
1Loss-
STK17B-
-
-
-
3Gain-
STK24-
-
-
-
1Loss-
STK32Ap.G197R
Missense
SNP
0.655
1Loss-
STK32C-
-
-
-
1Loss-
STK38L-
-
-
-
1Loss-
STK39-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STON1-
-
-
-
1Loss-
STON1-GTF2A1L-
-
-
-
1Loss-
STON2p.P250H
Missense
SNP
0.288
1Loss-
STOX1-
-
-
-
1Loss-
STPG4-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRAP-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STRN-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
STT3B-
-
-
-
3Gain-
STX19-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX2-
-
-
-
1Loss-
STXBP5L-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUCLG1-
-
-
-
1Loss-
SUCLG2-
-
-
-
3Gain-
SUCNR1-
-
-
-
3Gain-
SUDS3-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULT1C2p.R142Q
Missense
SNP
0.827
3Gain-
SULT1C3-
-
-
-
3Gain-
SULT1C4-
-
-
-
3Gain-
SULT6B1-
-
-
-
1Loss-
SUMF1-
-
-
-
3Gain-
SUOX-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT5Hp.A832V
Missense
SNP
0.418
2--
SUPT7L-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD5-
-
-
-
3Gain-
SUSD6-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVILp.S1019F
Missense
SNP
0.721
1Loss-
SVOP-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCP3-
-
-
-
1Loss-
SYN2-
-
-
-
3Gain-
SYNCRIPp.G559E
Missense
SNP
0.468
2--
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNJ1p.S1568F
Missense
SNP
0.442
2--
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYNPR-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYT1-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT8p.E191K
Missense
SNP
0.585
2--
Tp.E402K
Missense
SNP
0.537
NDND-
TAC1-
-
-
-
3Gain-
TAC3-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACR1-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3p.P353L
p.W71C
Missense
Missense
SNP
SNP
0.521
0.531
2--
TADA3-
-
-
-
3Gain-
TAF1B-
-
-
-
1Loss-
TAF2p.P1071L
Missense
SNP
0.434
2--
TAF3-
-
-
-
1Loss-
TAF4B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAF6-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN3-
-
-
-
1Loss-
TAMM41-
-
-
-
3Gain-
TANC1-
-
-
-
3Gain-
TANK-
-
-
-
3Gain-
TAOK1p.R654*
Nonsense
SNP
0.528
2--
TAOK2p.P899S
Missense
SNP
0.456
2--
TAOK3-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TARS-
-
-
-
3Gain-
TAS2R1-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TATDN2-
-
-
-
3Gain-
TBATA-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D23-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
3Gain-
TBC1D8p.P265L
Missense
SNP
0.186
3Gain-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBK1-
-
-
-
1Loss-
TBL1XR1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBPL2-
-
-
-
1Loss-
TBR1-
-
-
-
3Gain-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TC2N-
-
-
-
1Loss-
TCAIM-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF23-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCF7L1-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1p.D572N
Missense
SNP
0.739
2--
TCHP-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTA-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
3Gain-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDGF1-
-
-
-
3Gain-
TDP1-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRD9-
-
-
-
1Loss-
TEAD4-
-
-
-
1Loss-
TECPR1-
-
-
-
3Gain-
TECPR2-
-
-
-
1Loss-
TECTBp.G66R
Missense
SNP
0.422
1Loss-
TEDC1-
-
-
-
1Loss-
TEDDM1p.D49Y
Missense
SNP
0.236
2--
TEKT1p.D280Y
Missense
SNP
0.525
2--
TENM2-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TEP1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TESC-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TET3-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
1Loss-
TEX261-
-
-
-
1Loss-
TEX264-
-
-
-
3Gain-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX40p.M60I;p.E61K
Missense
MNP
0.457
NDND-
TEX43-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TEX49-
-
-
-
1Loss-
TEX51-
-
-
-
3Gain-
TEX52-
-
-
-
1Loss-
TEX9-
-
-
-
1Loss-
TF-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFCP2L1-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFG-
-
-
-
1Loss-
TFIP11p.W482*
Nonsense
SNP
0.638
2--
TFPI-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
TGp.E1471*
Nonsense
SNP
0.459
2--
TGDS-
-
-
-
1Loss-
TGFA-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGFBR2-
-
-
-
3Gain-
TGFBRAP1-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM4-
-
-
-
3Gain-
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TGOLN2-
-
-
-
1Loss-
THADAp.S849P
Missense
SNP
0.727
1Loss-
THAP2-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THBS1-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THNSL2-
-
-
-
1Loss-
THOC2p.V539E
Missense
SNP
1.000
NDND-
THOC3-
-
-
-
1Loss-
THOC7-
-
-
-
3Gain-
THPO-
-
-
-
3Gain-
THRB-
-
-
-
3Gain-
THSD1p.F439L
Missense
SNP
0.667
1Loss-
THSD7Ap.D490N
Missense
SNP
0.596
2--
THSD7Bp.V117A
Missense
SNP
0.166
3Gain-
THTPA-
-
-
-
1Loss-
THUMPD2-
-
-
-
1Loss-
THUMPD3-
-
-
-
3Gain-
TIA1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIGD3p.P242S
Missense
SNP
0.577
2--
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMELESS-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TIMMDC1-
-
-
-
1Loss-
TIMP4-
-
-
-
3Gain-
TINF2-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TIPIN-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TKT-
-
-
-
3Gain-
TLE3p.S742L
Missense
SNP
0.393
2--
TLK1-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLR9-
-
-
-
3Gain-
TLX1-
-
-
-
1Loss-
TLX2-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM7SF3-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMA7-
-
-
-
3Gain-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMCC1-
-
-
-
1Loss-
TMCC3-
-
-
-
1Loss-
TMCO3-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEFF2-
-
-
-
3Gain-
TMEM106C-
-
-
-
1Loss-
TMEM108-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
3Gain-
TMEM115-
-
-
-
3Gain-
TMEM116-
-
-
-
1Loss-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM127-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM131-
-
-
-
3Gain-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132Dp.G253S
Missense
SNP
0.349
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM150A-
-
-
-
1Loss-
TMEM158-
-
-
-
3Gain-
TMEM161B-
-
-
-
1Loss-
TMEM163p.V279M
Missense
SNP
0.837
3Gain-
TMEM167A-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM17-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM177-
-
-
-
3Gain-
TMEM178A-
-
-
-
1Loss-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM18-
-
-
-
1Loss-
TMEM182-
-
-
-
3Gain-
TMEM185B-
-
-
-
3Gain-
TMEM19-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM212-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM214-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM229B-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM236-
-
-
-
1Loss-
TMEM241-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM245p.S221L
Missense
SNP
0.523
2--
TMEM247-
-
-
-
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM263-
-
-
-
1Loss-
TMEM267.
Splice_Site
SNP
0.147
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM37-
-
-
-
3Gain-
TMEM39A-
-
-
-
1Loss-
TMEM40-
-
-
-
3Gain-
TMEM41A-
-
-
-
3Gain-
TMEM42-
-
-
-
3Gain-
TMEM43-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
1Loss-
TMEM52B-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM62p.A250S
Missense
SNP
0.653
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM72-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM87B-
-
-
-
3Gain-
TMEM89-
-
-
-
3Gain-
TMEM94p.P461L
Missense
SNP
0.438
2--
TMF1-
-
-
-
3Gain-
TMIE-
-
-
-
3Gain-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPO-
-
-
-
1Loss-
TMPPE-
-
-
-
3Gain-
TMPRSS12-
-
-
-
1Loss-
TMPRSS7-
-
-
-
1Loss-
TMSB10-
-
-
-
1Loss-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMX1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFAIP6-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
1Loss-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNKS2-
-
-
-
1Loss-
TNNC1-
-
-
-
3Gain-
TNPO1-
-
-
-
1Loss-
TNPO2p.S355F
p.G305E
Missense
Missense
SNP
SNP
0.493
0.418
2--
TNPO3-
-
-
-
3Gain-
TNRC6Cp.S1375*
Nonsense
SNP
0.074
2--
TNS2-
-
-
-
1Loss-
TNXBp.E3171K
p.P2507L
Missense
Missense
SNP
SNP
1.000
0.453
2--
TOGARAM1-
-
-
-
1Loss-
TOGARAM2-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM70-
-
-
-
1Loss-
TOP2Bp.E519K
Missense
SNP
0.603
3Gain-
TOPAZ1p.P109S
Missense
SNP
0.460
3Gain-
TOPBP1-
-
-
-
1Loss-
TOX4-
-
-
-
1Loss-
TP53p.W146*
Nonsense
SNP
1.000
2--
TP53BP1-
-
-
-
1Loss-
TP53I3-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TPCN1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPM1-
-
-
-
1Loss-
TPO-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
1Loss-
TPRG1-
-
-
-
3Gain-
TPRKB-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TPT1-
-
-
-
1Loss-
TPTE2p.D215N
Missense
SNP
0.601
1Loss-
TRA2B-
-
-
-
3Gain-
TRABD2A-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAFD1-
-
-
-
1Loss-
TRAIP-
-
-
-
3Gain-
TRAK1-
-
-
-
3Gain-
TRANK1p.V1017M
Missense
SNP
0.619
3Gain-
TRAPPC12-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAT1-
-
-
-
1Loss-
TRDMT1-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREML2p.P134L
Missense
SNP
0.436
2--
TREX1-
-
-
-
3Gain-
TRH-
-
-
-
1Loss-
TRHDEp.G952E
Missense
SNP
0.273
1Loss-
TRIAP1-
-
-
-
1Loss-
TRIB2-
-
-
-
1Loss-
TRIM10p.S417F
Missense
SNP
0.484
2--
TRIM13-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM36-
-
-
-
1Loss-
TRIM39-RPP21p.H371Q
Missense
SNP
1.000
2--
TRIM4-
-
-
-
3Gain-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM52-
-
-
-
1Loss-
TRIM54-
-
-
-
1Loss-
TRIM56p.S392N
Missense
SNP
0.423
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM8-
-
-
-
1Loss-
TRIM9p.R361H
Missense
SNP
0.323
1Loss-
TRIO-
-
-
-
3Gain-
TRIOBPp.P1403L
Missense
SNP
0.625
2--
TRIP11-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIP4-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRMT10C-
-
-
-
1Loss-
TRMT1Lp.G298R
Missense
SNP
0.771
2--
TRMT5-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMT61B-
-
-
-
1Loss-
TRNT1-
-
-
-
3Gain-
TROAP-
-
-
-
1Loss-
TRPC1-
-
-
-
3Gain-
TRPC3p.E88K
Missense
SNP
0.486
2--
TRPC4-
-
-
-
1Loss-
TRPC5p.S627F
Missense
SNP
1.000
NDND-
TRPC7-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAPp.S722F
Missense
SNP
0.304
3Gain-
TRUB1-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSFM-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSN-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN17-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPYL6-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSTD2p.P133L
Missense
SNP
0.443
2--
TTBK2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC21A-
-
-
-
3Gain-
TTC21B-
-
-
-
3Gain-
TTC23L-
-
-
-
3Gain-
TTC24p.K68N
Missense
SNP
0.796
2--
TTC26-
-
-
-
3Gain-
TTC27-
-
-
-
1Loss-
TTC30A-
-
-
-
3Gain-
TTC30B-
-
-
-
3Gain-
TTC31-
-
-
-
1Loss-
TTC32-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC37-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTL-
-
-
-
3Gain-
TTLL3-
-
-
-
3Gain-
TTLL5-
-
-
-
1Loss-
TTNp.W15880*
p.V12193M
p.E4564K
Nonsense
Missense
Missense
SNP
SNP
SNP
0.176
0.750
0.213
3Gain-
TTR-
-
-
-
1Loss-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBA3D-
-
-
-
3Gain-
TUBAL3-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TULP3-
-
-
-
1Loss-
TUSC2-
-
-
-
3Gain-
TUT1p.E168K
Missense
SNP
0.473
2--
TWF1-
-
-
-
1Loss-
TWF2-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC9-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD1-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYRO3-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UBA3-
-
-
-
3Gain-
UBA5-
-
-
-
1Loss-
UBA7-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBAP1L-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2E1-
-
-
-
3Gain-
UBE2E2-
-
-
-
3Gain-
UBE2E3-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2N-
-
-
-
1Loss-
UBE2QL1-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3B-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBP1-
-
-
-
3Gain-
UBQLN4p.P365L
Missense
SNP
0.258
2--
UBR1-
-
-
-
1Loss-
UBR3-
-
-
-
3Gain-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UBXN4-
-
-
-
3Gain-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN-
-
-
-
1Loss-
UCN2-
-
-
-
3Gain-
UCN3-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UGGT1-
-
-
-
3Gain-
UGGT2-
-
-
-
1Loss-
UGP2-
-
-
-
1Loss-
UGT2B15p.P395L
Missense
SNP
0.362
2--
UGT2B4p.P267S
Missense
SNP
0.456
2--
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHRF1BP1p.G32K
Missense
MNP
0.436
2--
UHRF1BP1L-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
ULK4-
-
-
-
3Gain-
UMPS-
-
-
-
1Loss-
UNC119B-
-
-
-
1Loss-
UNC13Ap.R1137H
p.D425N
Missense
Missense
SNP
SNP
0.421
0.560
2--
UNC13C-
-
-
-
1Loss-
UNC50-
-
-
-
3Gain-
UNC5A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5Dp.P615L
Missense
SNP
0.404
2--
UNC79-
-
-
-
1Loss-
UNG-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK1B-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPP2-
-
-
-
3Gain-
UQCRC1-
-
-
-
3Gain-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
UROC1-
-
-
-
1Loss-
UROSp.P44S
Missense
SNP
0.651
1Loss-
USF3-
-
-
-
1Loss-
USP12-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP15-
-
-
-
1Loss-
USP19-
-
-
-
3Gain-
USP3-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP34-
-
-
-
1Loss-
USP39-
-
-
-
1Loss-
USP4-
-
-
-
3Gain-
USP44-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP54p.W1587*
Nonsense
SNP
0.573
1Loss-
USP6NLp.P633S
Missense
SNP
0.630
1Loss-
USP8-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
USTp.P26S
Missense
SNP
0.440
2--
UTF1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
UXS1-
-
-
-
3Gain-
VAMP1-
-
-
-
1Loss-
VAMP5-
-
-
-
1Loss-
VAMP8-
-
-
-
1Loss-
VASH1-
-
-
-
1Loss-
VAT1Lp.M163I
Missense
SNP
0.600
2--
VAX1-
-
-
-
1Loss-
VAX2-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDR-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VEZT-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VGLL3-
-
-
-
3Gain-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VILL-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
3Gain-
VIT-
-
-
-
1Loss-
VKORC1L1-
-
-
-
3Gain-
VPS11p.G621E
Missense
SNP
0.484
2--
VPS13C-
-
-
-
1Loss-
VPS18-
-
-
-
1Loss-
VPS26A-
-
-
-
1Loss-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37B-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS39-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS54-
-
-
-
1Loss-
VPS8-
-
-
-
3Gain-
VRK1-
-
-
-
1Loss-
VRK2-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSIR-
-
-
-
1Loss-
VSNL1-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSX2p.G72R
Missense
SNP
0.263
1Loss-
VTI1A-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA3Bp.A1003T
Missense
SNP
0.823
3Gain-
VWA5Ap.T544I
Missense
SNP
0.367
2--
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWDEp.G1546R
Missense
SNP
0.381
2--
VWF-
-
-
-
1Loss-
WAC-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP1-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP4-
-
-
-
1Loss-
WDCP-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDPCP-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR33-
-
-
-
3Gain-
WDR35-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR43-
-
-
-
1Loss-
WDR48-
-
-
-
3Gain-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR54-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
1Loss-
WDR6-
-
-
-
3Gain-
WDR66-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR75-
-
-
-
3Gain-
WDR76-
-
-
-
1Loss-
WDR82-
-
-
-
3Gain-
WDR89-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WDR92-
-
-
-
1Loss-
WDSUB1-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WIPF1-
-
-
-
3Gain-
WNK1-
-
-
-
1Loss-
WNT1-
-
-
-
1Loss-
WNT10B-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT5A-
-
-
-
3Gain-
WNT5B-
-
-
-
1Loss-
WNT7A-
-
-
-
3Gain-
WNT8A-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WSB2-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XCR1-
-
-
-
3Gain-
XDH-
-
-
-
1Loss-
XIRP1-
-
-
-
3Gain-
XIRP2-
-
-
-
3Gain-
XPC-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPO1-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPOT-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
3Gain-
YAF2-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YEATS4-
-
-
-
1Loss-
YIPF4-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YME1L1-
-
-
-
1Loss-
YPEL5-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YWHAQ-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z84492.1-
-
-
-
3Gain-
ZACNp.E336K
Missense
SNP
0.451
2--
ZADH2-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZAP70-
-
-
-
3Gain-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBTB1-
-
-
-
1Loss-
ZBTB11-
-
-
-
1Loss-
ZBTB20-
-
-
-
1Loss-
ZBTB25-
-
-
-
1Loss-
ZBTB38-
-
-
-
3Gain-
ZBTB39-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB47-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZBTB9p.G316E
Missense
SNP
0.434
2--
ZC2HC1C-
-
-
-
1Loss-
ZC3H10-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3H15-
-
-
-
3Gain-
ZC3H6-
-
-
-
3Gain-
ZC3H8-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
1Loss-
ZCCHC8-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZCWPW2-
-
-
-
3Gain-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC20-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC23-
-
-
-
1Loss-
ZDHHC3-
-
-
-
3Gain-
ZDHHC6-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZEB2-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFC3H1-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFHX4p.P3157L
Missense
SNP
0.549
2--
ZFP2-
-
-
-
1Loss-
ZFP30p.H488Y
Missense
SNP
0.409
2--
ZFP36L1-
-
-
-
1Loss-
ZFP36L2-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFYVE1-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZGRF1p.G1955D
Missense
SNP
0.450
2--
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5p.D649Y
Missense
SNP
0.300
1Loss-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7p.G23R
Missense
SNP
0.426
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT3-
-
-
-
3Gain-
ZMIZ1p.H509N
Missense
SNP
0.456
1Loss-
ZMYM2-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYND10-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZNF10-
-
-
-
1Loss-
ZNF100p.G463S
p.S232F
Missense
Missense
SNP
SNP
0.464
0.509
2--
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF140-
-
-
-
1Loss-
ZNF148-
-
-
-
1Loss-
ZNF189p.A408S
Missense
SNP
0.523
2--
ZNF197-
-
-
-
3Gain-
ZNF219-
-
-
-
1Loss-
ZNF22-
-
-
-
1Loss-
ZNF229p.E430K
Missense
SNP
0.497
2--
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF26-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF280D-
-
-
-
1Loss-
ZNF3-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF320p.R320C
Missense
SNP
0.490
2--
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF345p.E94D
Missense
SNP
0.479
2--
ZNF346-
-
-
-
1Loss-
ZNF35-
-
-
-
3Gain-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF384-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF385B-
-
-
-
3Gain-
ZNF385D-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF445p.R1002Q
Missense
SNP
0.516
3Gain-
ZNF45p.D137N
Missense
SNP
0.517
2--
ZNF454-
-
-
-
1Loss-
ZNF473p.S174A
Missense
SNP
0.413
2--
ZNF474-
-
-
-
1Loss-
ZNF485-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF491p.M122I
Missense
SNP
0.444
2--
ZNF497p.P301L
Missense
SNP
0.491
2--
ZNF501-
-
-
-
3Gain-
ZNF502-
-
-
-
3Gain-
ZNF503-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512-
-
-
-
1Loss-
ZNF513-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF518Ap.P638S
Missense
SNP
0.256
1Loss-
ZNF521p.P1259S
Missense
SNP
0.980
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF536p.E534K
Missense
SNP
0.508
2--
ZNF569p.H320Y
Missense
SNP
0.410
2--
ZNF578p.Q21L
Missense
SNP
0.377
2--
ZNF589-
-
-
-
3Gain-
ZNF605-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
1Loss-
ZNF619-
-
-
-
3Gain-
ZNF620-
-
-
-
3Gain-
ZNF621-
-
-
-
3Gain-
ZNF622-
-
-
-
3Gain-
ZNF638-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF641-
-
-
-
1Loss-
ZNF654-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF660-
-
-
-
3Gain-
ZNF662-
-
-
-
3Gain-
ZNF664-
-
-
-
1Loss-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF717-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF729p.A804V
Missense
SNP
0.505
2--
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF740-
-
-
-
1Loss-
ZNF770-
-
-
-
1Loss-
ZNF789-
-
-
-
3Gain-
ZNF80-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF804A-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF839-
-
-
-
1Loss-
ZNF84-
-
-
-
1Loss-
ZNF845p.P942L
Missense
SNP
0.486
2--
ZNF852-
-
-
-
3Gain-
ZNF860-
-
-
-
3Gain-
ZNF879-
-
-
-
1Loss-
ZNF891-
-
-
-
1Loss-
ZNF92-
-
-
-
3Gain-
ZNFX1p.L1795F
Missense
SNP
0.517
2--
ZNHIT1-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZP4p.P345S
Missense
SNP
0.691
2--
ZPLD1-
-
-
-
1Loss-
ZRANB1-
-
-
-
1Loss-
ZRANB3-
-
-
-
3Gain-
ZSCAN20p.P342S
Missense
SNP
0.284
2--
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM2-
-
-
-
3Gain-
ZSWIM6-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-
ZZEF1p.L628F
Missense
SNP
1.000
2--