PDMR-772611~094-R~XCHF39H44-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AAMP-
-
-
-
1Loss-
AARD-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
6Amp-
ABCA3p.E506K
Missense
SNP
0.502
2--
ABCB1p.D26H
Missense
SNP
0.483
2--
ABCB11-
-
-
-
1Loss-
ABCB4p.R971T
Missense
SNP
0.582
2--
ABCB5-
-
-
-
6Amp-
ABCB6-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCF1-
-
-
-
3Gain-
ABCF3-
-
-
-
3Gain-
ABCG1-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABHD16A-
-
-
-
3Gain-
ABHD3-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3BP-
-
-
-
3Gain-
ABRA-
-
-
-
3Gain-
ABRACL-
-
-
-
1Loss-
ABT1p.R150H
Missense
SNP
0.405
3Gain-
ABTB1-
-
-
-
3Gain-
AC001226.2-
-
-
-
1Loss-
AC002094.3-
-
-
-
3Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
6Amp-
AC004593.3-
-
-
-
6Amp-
AC004691.2-
-
-
-
6Amp-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
6Amp-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005697.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006978.2-
-
-
-
6Amp-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC009336.2-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
6Amp-
AC010326.2-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC015688.4-
-
-
-
3Gain-
AC019117.2-
-
-
-
6Amp-
AC020636.2-
-
-
-
3Gain-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC021660.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC026316.5-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC067968.1-
-
-
-
1Loss-
AC068547.1-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC079447.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
6Amp-
AC092835.1-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC109583.3-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112229.3-
-
-
-
1Loss-
AC112504.2-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC131097.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC134669.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
6Amp-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACAT2-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACMSD-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOX2-
-
-
-
1Loss-
ACOXL-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACSL3-
-
-
-
1Loss-
ACTB-
-
-
-
6Amp-
ACTL6A-
-
-
-
3Gain-
ACTN1p.Q832P
Missense
SNP
0.487
2--
ACTR1B-
-
-
-
1Loss-
ACTR3-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT3-
-
-
-
3Gain-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADA2-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM33p.H447Y
Missense
SNP
0.234
2--
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS5p.A24V
Missense
SNP
0.405
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAP1-
-
-
-
6Amp-
ADAP2-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY1-
-
-
-
6Amp-
ADCY4-
-
-
-
1Loss-
ADCY5-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADCYAP1-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
6Amp-
ADGB-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRB2p.F1256L
Missense
SNP
0.343
2--
ADGRB3-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRG7-
-
-
-
3Gain-
ADHFE1-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPGKp.W61R
Missense
SNP
0.531
2--
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA2B-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSSL1p.N397D
Missense
SNP
0.478
2--
AEBP1-
-
-
-
6Amp-
AFDN-
-
-
-
1Loss-
AFF3-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGER-
-
-
-
3Gain-
AGFG1-
-
-
-
1Loss-
AGMO-
-
-
-
6Amp-
AGO2-
-
-
-
3Gain-
AGPAT1-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGPS-
-
-
-
1Loss-
AGR2-
-
-
-
6Amp-
AGR3-
-
-
-
6Amp-
AGTR1-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AHR-
-
-
-
6Amp-
AHSG-
-
-
-
3Gain-
AIF1-
-
-
-
3Gain-
AIFM1p.P554S
p.P551L
Missense
Missense
SNP
SNP
0.533
0.538
NDND-
AIFM3-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AIMP2-
-
-
-
6Amp-
AJUBAp.Q103*
Nonsense
SNP
1.000
1Loss-
AK9-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKAP9p.D3555H
Missense
SNP
0.479
2--
AKIRIN2-
-
-
-
1Loss-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AL021997.3-
-
-
-
3Gain-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
3Gain-
AL049697.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL359736.1-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512428.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
3Gain-
AL645941.2-
-
-
-
3Gain-
AL662884.4-
-
-
-
3Gain-
AL662899.1-
-
-
-
3Gain-
AL662899.2-
-
-
-
3Gain-
AL669918.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
1Loss-
AL928654.3-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH5A1-
-
-
-
3Gain-
ALDH8A1-
-
-
-
1Loss-
ALDOC-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALKAL1-
-
-
-
3Gain-
ALOX5AP-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
AMD1-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMER3-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPH-
-
-
-
6Amp-
AMT-
-
-
-
1Loss-
AMZ1-
-
-
-
6Amp-
ANAPC1-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANG-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANK3p.R1176*
Nonsense
SNP
0.451
2--
ANKAR-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
6Amp-
ANKRD10-
-
-
-
1Loss-
ANKRD13B-
-
-
-
3Gain-
ANKRD16-
-
-
-
1Loss-
ANKRD23-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD27-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD30BL-
-
-
-
1Loss-
ANKRD36-
-
-
-
1Loss-
ANKRD36B-
-
-
-
1Loss-
ANKRD36C-
-
-
-
1Loss-
ANKRD39-
-
-
-
1Loss-
ANKRD44-
-
-
-
1Loss-
ANKRD46-
-
-
-
3Gain-
ANKRD6-
-
-
-
1Loss-
ANKRD61-
-
-
-
6Amp-
ANKS1A-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
6Amp-
ANO10-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANP32Bp.K239N
Missense
SNP
0.608
2--
ANXA13-
-
-
-
3Gain-
AOAH-
-
-
-
6Amp-
AOX1-
-
-
-
1Loss-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
6Amp-
APBB1IP-
-
-
-
1Loss-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOM-
-
-
-
3Gain-
APP-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
AQP1-
-
-
-
6Amp-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARFGEF1-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF12p.S300F
Missense
SNP
0.504
2--
ARHGEF26-
-
-
-
3Gain-
ARHGEF3-
-
-
-
1Loss-
ARHGEF4-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1Ap.D1315H
Missense
SNP
0.299
2--
ARID1B-
-
-
-
1Loss-
ARID5A-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL4A-
-
-
-
6Amp-
ARL4C-
-
-
-
1Loss-
ARL5A-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
3Gain-
ARMT1-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASH1Lp.S755F
Missense
SNP
0.256
2--
ASH2L-
-
-
-
1Loss-
ASIC2-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASNSp.E514Q
Missense
SNP
0.420
2--
ASNSD1-
-
-
-
1Loss-
ASPHp.R426C
Missense
SNP
0.531
3Gain-
ASPHD2-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASTL-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ATAD2-
-
-
-
3Gain-
ATAD5-
-
-
-
3Gain-
ATAT1-
-
-
-
3Gain-
ATF2-
-
-
-
1Loss-
ATF6Bp.S316C
Missense
SNP
0.571
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG3p.D169H
Missense
SNP
0.810
3Gain-
ATG4B-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATMp.R1312K
p.Q1946*
p.G2772A
Missense
Nonsense
Missense
SNP
SNP
SNP
0.395
0.516
0.487
2--
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP12A-
-
-
-
1Loss-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5MC3-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1G2-
-
-
-
3Gain-
ATP6V1G2-DDX39B-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
ATRIP-
-
-
-
1Loss-
ATXN1-
-
-
-
3Gain-
ATXN7-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVL9-
-
-
-
6Amp-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT1-
-
-
-
1Loss-
B3GALT4-
-
-
-
3Gain-
B3GALT5-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT7-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG6-
-
-
-
3Gain-
BAHCC1p.R1786C
Missense
SNP
1.000
2--
BAK1-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BAZ2B-
-
-
-
1Loss-
BBS5-
-
-
-
1Loss-
BBS9-
-
-
-
6Amp-
BBX-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCKDHB-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L11-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCLAF1-
-
-
-
1Loss-
BCR-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BEND3-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST2p.K169N
Missense
SNP
0.325
2--
BEST4p.P184L
Missense
SNP
0.678
2--
BFSP2-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIN1-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLMH-
-
-
-
3Gain-
BLOC1S5-
-
-
-
5Amp-
BLOC1S5-TXNDC5-
-
-
-
5Amp-
BLVRA-
-
-
-
6Amp-
BMI1-
-
-
-
1Loss-
BMP1p.X703_splice
Splice_Site
SNP
0.994
2--
BMP6-
-
-
-
5Amp-
BMPER-
-
-
-
6Amp-
BMPR2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BOC-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BORA-
-
-
-
1Loss-
BPHL-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BRAT1-
-
-
-
6Amp-
BRCA2-
-
-
-
1Loss-
BRD2-
-
-
-
3Gain-
BRF1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BTBD6-
-
-
-
3Gain-
BTD-
-
-
-
1Loss-
BTG3-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BTNL2-
-
-
-
3Gain-
BUB1-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
BZW2-
-
-
-
6Amp-
C10orf105-
-
-
-
3Gain-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C12orf56p.E142Q
Missense
SNP
0.115
2--
C14orf119-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C17orf75-
-
-
-
3Gain-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C1GALT1-
-
-
-
6Amp-
C1QL2-
-
-
-
1Loss-
C1QL3-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C1RLp.V42D
Missense
SNP
0.528
2--
C2-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD6-
-
-
-
1Loss-
C2orf15-
-
-
-
1Loss-
C2orf40-
-
-
-
1Loss-
C2orf49-
-
-
-
1Loss-
C2orf66-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf76-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C2orf88-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf136-
-
-
-
3Gain-
C6orf15-
-
-
-
3Gain-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf47-
-
-
-
3Gain-
C6orf48-
-
-
-
3Gain-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
3Gain-
C7orf25-
-
-
-
6Amp-
C7orf26-
-
-
-
6Amp-
C7orf31-
-
-
-
6Amp-
C7orf50-
-
-
-
6Amp-
C7orf57-
-
-
-
6Amp-
C7orf72p.S21L
Missense
SNP
0.806
NDND-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1Gp.P599L
Missense
SNP
1.000
2--
CACNA2D2p.A859P
Missense
SNP
0.436
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNB4-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CAGE1-
-
-
-
6Amp-
CALB1-
-
-
-
3Gain-
CALCRL-
-
-
-
1Loss-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2B-
-
-
-
6Amp-
CAMK2N2-
-
-
-
3Gain-
CAMKMTp.E222K
Missense
SNP
0.471
2--
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAP2-
-
-
-
3Gain-
CAPN10-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CARD11-
-
-
-
6Amp-
CARF-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARMIL3-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASP8AP2-
-
-
-
1Loss-
CASRp.E297K
Missense
SNP
0.144
3Gain-
CASTOR1-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPERGp.R730Q
Missense
SNP
0.292
2--
CAV3-
-
-
-
1Loss-
CAVIN2-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD2-
-
-
-
1Loss-
CBX3-
-
-
-
6Amp-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC126-
-
-
-
6Amp-
CCDC13-
-
-
-
1Loss-
CCDC138-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC141-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC150-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC173-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC74Ap.N50K
Missense
SNP
0.620
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC88Ap.E1751Q
Missense
SNP
0.478
2--
CCDC93-
-
-
-
1Loss-
CCHCR1-
-
-
-
3Gain-
CCK-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCM2-
-
-
-
6Amp-
CCNA1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNL1-
-
-
-
3Gain-
CCNT2-
-
-
-
1Loss-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR6-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT6A-
-
-
-
6Amp-
CCT8-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CCZ1-
-
-
-
6Amp-
CCZ1B-
-
-
-
6Amp-
CD109-
-
-
-
1Loss-
CD164-
-
-
-
1Loss-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD302-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD83-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD8B2-
-
-
-
1Loss-
CD96-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC14C-
-
-
-
6Amp-
CDC16-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
3Gain-
CDCA7-
-
-
-
1Loss-
CDCA7L-
-
-
-
6Amp-
CDCP1-
-
-
-
1Loss-
CDH17-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23p.Q437E
Missense
SNP
0.488
3Gain-
CDH24-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDK13-
-
-
-
6Amp-
CDK15-
-
-
-
1Loss-
CDK19-
-
-
-
1Loss-
CDK5R1-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKAL1-
-
-
-
3Gain-
CDKL3p.E570K
Missense
SNP
0.459
2--
CDNF-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDSN-
-
-
-
3Gain-
CDV3-
-
-
-
3Gain-
CDX2-
-
-
-
1Loss-
CDYL-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEBPD-
-
-
-
3Gain-
CEBPE-
-
-
-
1Loss-
CECR2-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP250p.W2268C
Missense
SNP
0.450
2--
CEP57L1-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP72p.Q313H
Missense
SNP
0.476
2--
CEP85L-
-
-
-
1Loss-
CEP97-
-
-
-
3Gain-
CERKL-
-
-
-
1Loss-
CERS6-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP206-
-
-
-
1Loss-
CFAP221-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54p.S1143C
Missense
SNP
0.526
2--
CFAP65-
-
-
-
1Loss-
CFB-
-
-
-
3Gain-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD2-
-
-
-
6Amp-
CHCHD4-
-
-
-
1Loss-
CHCHD5-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4C-
-
-
-
3Gain-
CHN1-
-
-
-
1Loss-
CHN2-
-
-
-
6Amp-
CHODL-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRD-
-
-
-
3Gain-
CHRNA1-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST10-
-
-
-
1Loss-
CHST12-
-
-
-
6Amp-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHST9-
-
-
-
1Loss-
CHTF18p.I744M
Missense
SNP
0.535
2--
CIAO1-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CIP2A-
-
-
-
3Gain-
CIR1-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP2L-
-
-
-
1Loss-
CLASP1-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLASRPp.S411F
Missense
SNP
0.266
2--
CLBA1-
-
-
-
3Gain-
CLCN2-
-
-
-
3Gain-
CLCN6p.E728K
Missense
SNP
0.997
2--
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
3Gain-
CLDN14-
-
-
-
1Loss-
CLDN16-
-
-
-
3Gain-
CLDN17-
-
-
-
1Loss-
CLDN18-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN5-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC3B-
-
-
-
1Loss-
CLIC1-
-
-
-
3Gain-
CLIC6-
-
-
-
1Loss-
CLK1-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLNKp.I389M
Missense
SNP
0.444
2--
CLRN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS1-
-
-
-
3Gain-
CLVS2-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMSS1-
-
-
-
3Gain-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNBD1-
-
-
-
3Gain-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA3-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNKSR3-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNNM3p.E538D
p.E567Q
Missense
Missense
SNP
SNP
0.598
0.631
1Loss-
CNNM4-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP5-
-
-
-
1Loss-
COA1-
-
-
-
6Amp-
COA5-
-
-
-
1Loss-
COBL-
-
-
-
6Amp-
COBLL1-
-
-
-
1Loss-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A2-
-
-
-
3Gain-
COL12A1-
-
-
-
1Loss-
COL14A1-
-
-
-
3Gain-
COL19A1-
-
-
-
1Loss-
COL20A1p.E898Q
Missense
SNP
0.478
2--
COL22A1-
-
-
-
3Gain-
COL28A1-
-
-
-
6Amp-
COL3A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL4A5p.S1047F
Missense
SNP
0.449
NDND-
COL5A2-
-
-
-
1Loss-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
3Gain-
COL9A1-
-
-
-
1Loss-
COLEC10-
-
-
-
3Gain-
COLEC12-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD6-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPRS-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COQ10B-
-
-
-
1Loss-
COQ3-
-
-
-
1Loss-
CORO6-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX19-
-
-
-
6Amp-
COX5B-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPD-
-
-
-
3Gain-
CPLX4-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE6-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPSF1-
-
-
-
3Gain-
CPVL-
-
-
-
6Amp-
CRBN-
-
-
-
1Loss-
CREB1-
-
-
-
1Loss-
CREB5-
-
-
-
6Amp-
CREG2-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CREM-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHR2-
-
-
-
6Amp-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRKL-
-
-
-
1Loss-
CRLF3-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA1-
-
-
-
3Gain-
CRYBA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG1-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSMD3-
-
-
-
5Amp-
CSNK1A1L-
-
-
-
1Loss-
CSNK2B-
-
-
-
3Gain-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CSRNP3-
-
-
-
1Loss-
CSTA-
-
-
-
3Gain-
CTAGE1-
-
-
-
1Loss-
CTAGE9-
-
-
-
1Loss-
CTCFp.E635Q
p.K649N
Missense
Missense
SNP
SNP
0.454
0.412
2--
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSWp.R62H
Missense
SNP
0.540
2--
CTTNBP2p.D885H
Missense
SNP
0.511
2--
CUBN-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUTA-
-
-
-
3Gain-
CWC22-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBRD1-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
6Amp-
CYHR1-
-
-
-
3Gain-
CYP11B1p.E329Q
Missense
SNP
0.481
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP20A1-
-
-
-
1Loss-
CYP21A2-
-
-
-
3Gain-
CYP27A1-
-
-
-
1Loss-
CYP27C1-
-
-
-
1Loss-
CYP2W1-
-
-
-
6Amp-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTH3-
-
-
-
6Amp-
CYTIP-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
6Amp-
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAPL1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAXX-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBI-
-
-
-
1Loss-
DBNL-
-
-
-
6Amp-
DBR1-
-
-
-
3Gain-
DCAF1-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF17-
-
-
-
1Loss-
DCAF4L2-
-
-
-
3Gain-
DCBLD1-
-
-
-
1Loss-
DCBLD2-
-
-
-
3Gain-
DCC-
-
-
-
1Loss-
DCDC2-
-
-
-
3Gain-
DCLK1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DDAH2-
-
-
-
3Gain-
DDC-
-
-
-
6Amp-
DDHD2-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX18-
-
-
-
1Loss-
DDX39B-
-
-
-
3Gain-
DDX43-
-
-
-
1Loss-
DDX56-
-
-
-
6Amp-
DECR1-
-
-
-
3Gain-
DEF6-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEK-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND6A-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL3-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKB-
-
-
-
6Amp-
DGKD-
-
-
-
1Loss-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHRS1-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS13-
-
-
-
3Gain-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX30-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIP2A-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRC1-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DIS3L2p.E821K
Missense
SNP
0.312
1Loss-
DLC1-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLGAP1-
-
-
-
1Loss-
DLL1-
-
-
-
1Loss-
DLX1-
-
-
-
1Loss-
DLX2-
-
-
-
1Loss-
DNAAF5-
-
-
-
6Amp-
DNAH1-
-
-
-
1Loss-
DNAH11-
-
-
-
6Amp-
DNAH12-
-
-
-
1Loss-
DNAH7-
-
-
-
1Loss-
DNAH9p.K1949N
Missense
SNP
0.590
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB2-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC10-
-
-
-
1Loss-
DNAJC13p.E1628Q
Missense
SNP
0.848
3Gain-
DNAJC15-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC28-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC5B-
-
-
-
3Gain-
DNASE1L3-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNM1p.S126L
Missense
SNP
0.530
2--
DNPEP-
-
-
-
1Loss-
DNTTIP2p.E541K
Missense
SNP
0.333
2--
DOCK10-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK9-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPP10-
-
-
-
1Loss-
DPP4-
-
-
-
1Loss-
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPPA5-
-
-
-
1Loss-
DPY19L1-
-
-
-
6Amp-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRG1-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSCC1-
-
-
-
3Gain-
DSE-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSP-
-
-
-
6Amp-
DTNA-
-
-
-
1Loss-
DTNBP1-
-
-
-
3Gain-
DTX3Lp.E389K
Missense
SNP
0.147
3Gain-
DTYMK-
-
-
-
1Loss-
DUOX1p.E517Q
Missense
SNP
0.497
2--
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
1Loss-
DUSP22-
-
-
-
1Loss-
DUSP28-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DXO-
-
-
-
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1p.S3958*
Nonsense
SNP
0.458
2--
DYNLT1-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYTN-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
E2F3-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECEL1-
-
-
-
1Loss-
ECHDC1-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
ECT2L-
-
-
-
1Loss-
EDAR-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EEF1A1-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEF1E1-
-
-
-
5Amp-
EEF1E1-BLOC1S5-
-
-
-
5Amp-
EEFSEC-
-
-
-
3Gain-
EEPD1-
-
-
-
6Amp-
EFCAB1-
-
-
-
3Gain-
EFCAB12p.X280_splice
Splice_Site
SNP
0.838
3Gain-
EFCAB5-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EGFL8-
-
-
-
3Gain-
EGFR-
-
-
-
6Amp-
EHHADH-
-
-
-
3Gain-
EHMT2-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
6Amp-
EIF2AK3-
-
-
-
1Loss-
EIF2B5-
-
-
-
3Gain-
EIF3Ap.S1256C
Missense
SNP
0.495
2--
EIF3B-
-
-
-
6Amp-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4A2-
-
-
-
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF5p.X249_splice
Splice_Site
SNP
0.443
2--
EIF5A2-
-
-
-
3Gain-
EIF5B-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELFN1-
-
-
-
6Amp-
ELMO1-
-
-
-
6Amp-
ELOA2-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOVL4-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EN1-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP1-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENPP3-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300p.E616*
Nonsense
SNP
0.281
2--
EPB41L2-
-
-
-
1Loss-
EPB41L5-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPDR1-
-
-
-
6Amp-
EPG5-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHA7-
-
-
-
1Loss-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPPK1-
-
-
-
3Gain-
EPSTI1-
-
-
-
1Loss-
ERAL1-
-
-
-
3Gain-
ERBB4-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC3-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC6L2p.L390F
Missense
SNP
0.543
2--
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH2-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMN-
-
-
-
1Loss-
ESCO1-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ESS2-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETS2-
-
-
-
1Loss-
ETV1-
-
-
-
6Amp-
ETV5-
-
-
-
3Gain-
EVA1C-
-
-
-
1Loss-
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVX1-
-
-
-
6Amp-
EVX2-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXOC2-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA4-
-
-
-
1Loss-
EYS-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F10-
-
-
-
1Loss-
F13A1-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP7-
-
-
-
1Loss-
FABP9-
-
-
-
3Gain-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM107B-
-
-
-
1Loss-
FAM110B-
-
-
-
3Gain-
FAM117B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126A-
-
-
-
6Amp-
FAM126B-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM135A-
-
-
-
1Loss-
FAM135B-
-
-
-
3Gain-
FAM155A-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM162B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM168B-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM171B-
-
-
-
1Loss-
FAM178B-
-
-
-
1Loss-
FAM184Ap.E282Q
Missense
SNP
0.633
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM20C-
-
-
-
6Amp-
FAM216B-
-
-
-
1Loss-
FAM217A-
-
-
-
1Loss-
FAM220A-
-
-
-
6Amp-
FAM221A-
-
-
-
6Amp-
FAM222B-
-
-
-
3Gain-
FAM229B-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM49B-
-
-
-
3Gain-
FAM50B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM8A1-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FAT1p.S3707*
p.Q283*
Nonsense
Nonsense
SNP
SNP
0.452
0.484
2--
FAXC-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBLN7-
-
-
-
1Loss-
FBXL18p.I242M
Missense
SNP
0.301
6Amp-
FBXL2-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL4-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO30-
-
-
-
1Loss-
FBXO32-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO5-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FERp.I126M
Missense
SNP
0.579
2--
FER1L5-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERD3L-
-
-
-
6Amp-
FETUB-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF14-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL2-
-
-
-
1Loss-
FHL5-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FIGNL1-
-
-
-
6Amp-
FILIP1-
-
-
-
1Loss-
FILIP1Lp.X202_splice
Splice_Site
SNP
0.806
3Gain-
FITM1-
-
-
-
1Loss-
FKBP14-
-
-
-
6Amp-
FKBP1C-
-
-
-
1Loss-
FKBP7-
-
-
-
1Loss-
FKBP9-
-
-
-
6Amp-
FKBPL-
-
-
-
3Gain-
FLNB-
-
-
-
1Loss-
FLOT1-
-
-
-
3Gain-
FLOT2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLT1-
-
-
-
1Loss-
FLT3p.T227M
Missense
SNP
0.298
1Loss-
FMNL2-
-
-
-
1Loss-
FN1-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FOXB2p.H90Q
Missense
SNP
0.492
2--
FOXC1-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXG1-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXI3-
-
-
-
1Loss-
FOXK1-
-
-
-
6Amp-
FOXL2p.P287S
Missense
SNP
0.138
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1p.S527C
Missense
SNP
0.283
2--
FOXN1-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXQ1p.E147*
Nonsense
SNP
1.000
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FRYLp.E2136Q
Missense
SNP
0.378
2--
FRZB-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCN1-
-
-
-
6Amp-
FSIP2-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FTCDNL1-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
FZD7-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
G6PC2-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABBR1-
-
-
-
3Gain-
GABPA-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GAD1-
-
-
-
1Loss-
GAD2-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALMp.V127I
Missense
SNP
0.518
2--
GALNT1-
-
-
-
1Loss-
GALNT13-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAREM1-
-
-
-
1Loss-
GARS-
-
-
-
6Amp-
GART-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GATA3-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATA6-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCA-
-
-
-
1Loss-
GCC2-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCK-
-
-
-
6Amp-
GCSAM-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDAP2p.S403C
Missense
SNP
0.260
2--
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
1Loss-
GEM-
-
-
-
3Gain-
GET4-
-
-
-
6Amp-
GFM1-
-
-
-
3Gain-
GFRA3p.E209K
Missense
SNP
0.418
2--
GGACT-
-
-
-
1Loss-
GGCT-
-
-
-
6Amp-
GGH-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGTLC2-
-
-
-
1Loss-
GHRHR-
-
-
-
6Amp-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GIGYF2-
-
-
-
1Loss-
GINM1-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GIT1-
-
-
-
3Gain-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJB2-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GJB7-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GJE1-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLCCI1-
-
-
-
6Amp-
GLI2-
-
-
-
1Loss-
GLI3-
-
-
-
6Amp-
GLI4-
-
-
-
3Gain-
GLOD5p.E108Q
Missense
SNP
0.489
NDND-
GLP2R-
-
-
-
1Loss-
GLS-
-
-
-
1Loss-
GLT8D1p.S368*
Nonsense
SNP
0.468
1Loss-
GLYCTK-
-
-
-
1Loss-
GMDS-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPR-
-
-
-
3Gain-
GMPR2-
-
-
-
1Loss-
GMPS-
-
-
-
3Gain-
GNA12-
-
-
-
6Amp-
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNAZ-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNL1-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOPC-
-
-
-
1Loss-
GORASP1-
-
-
-
1Loss-
GORASP2-
-
-
-
1Loss-
GOSR1-
-
-
-
3Gain-
GOT2p.X235_splice
Splice_Site
SNP
0.480
2--
GP1BB-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPANK1-
-
-
-
3Gain-
GPAT2-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPBAR1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPD2-
-
-
-
1Loss-
GPER1-
-
-
-
6Amp-
GPIHBP1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPNMB-
-
-
-
6Amp-
GPR1-
-
-
-
1Loss-
GPR12-
-
-
-
1Loss-
GPR132-
-
-
-
3Gain-
GPR141-
-
-
-
6Amp-
GPR146-
-
-
-
6Amp-
GPR148-
-
-
-
1Loss-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR155-
-
-
-
1Loss-
GPR156-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR17-
-
-
-
1Loss-
GPR171-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR31-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR39-
-
-
-
1Loss-
GPR45-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR6-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR65p.R311M
Missense
SNP
0.435
2--
GPR87-
-
-
-
3Gain-
GPRASP2p.E445Q
Missense
SNP
0.426
NDND-
GPRC6A-
-
-
-
1Loss-
GPSM3-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GRAMD1C-
-
-
-
3Gain-
GRB10-
-
-
-
6Amp-
GRB14-
-
-
-
1Loss-
GREB1L-
-
-
-
1Loss-
GRHL2-
-
-
-
3Gain-
GRID2IP-
-
-
-
6Amp-
GRIFIN-
-
-
-
6Amp-
GRIK1-
-
-
-
1Loss-
GRIK2p.N495K
Missense
SNP
0.308
1Loss-
GRINA-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM1-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM4-
-
-
-
3Gain-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSDME-
-
-
-
6Amp-
GSG1L2-
-
-
-
1Loss-
GSK3Bp.L386V
Missense
SNP
0.110
3Gain-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GTDC1-
-
-
-
1Loss-
GTF2E1-
-
-
-
3Gain-
GTF2F2-
-
-
-
1Loss-
GTF2H4-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C3-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GULP1-
-
-
-
1Loss-
GVQW2-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYPC-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFV-
-
-
-
6Amp-
H2BFS-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACE1-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HAT1-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HDAC11-
-
-
-
1Loss-
HDAC2-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC9-
-
-
-
6Amp-
HDDC2-
-
-
-
1Loss-
HDGFL1-
-
-
-
3Gain-
HDHD2-
-
-
-
1Loss-
HDHD5-
-
-
-
1Loss-
HDLBP-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECW1-
-
-
-
6Amp-
HECW2-
-
-
-
1Loss-
HEG1-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HERC2p.A3579T
Missense
SNP
0.497
2--
HERPUD2-
-
-
-
6Amp-
HES1-
-
-
-
3Gain-
HES6-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
3Gain-
HGD-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHLA1-
-
-
-
3Gain-
HHLA2-
-
-
-
3Gain-
HIBADH-
-
-
-
6Amp-
HIBCH-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIRA-
-
-
-
1Loss-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H2BC-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
3Gain-
HIST1H2BE-
-
-
-
3Gain-
HIST1H2BF-
-
-
-
3Gain-
HIST1H2BGp.E77K
Missense
SNP
0.400
3Gain-
HIST1H2BH-
-
-
-
3Gain-
HIST1H2BI-
-
-
-
3Gain-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3B-
-
-
-
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3D-
-
-
-
3Gain-
HIST1H3E-
-
-
-
3Gain-
HIST1H3F-
-
-
-
3Gain-
HIST1H3G-
-
-
-
3Gain-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST1H4C-
-
-
-
3Gain-
HIST1H4D-
-
-
-
3Gain-
HIST1H4E-
-
-
-
3Gain-
HIST1H4F-
-
-
-
3Gain-
HIST1H4G-
-
-
-
3Gain-
HIST1H4H-
-
-
-
3Gain-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
1Loss-
HIVEP2-
-
-
-
1Loss-
HJURPp.S521F
Missense
SNP
0.668
1Loss-
HKR1-
-
-
-
1Loss-
HLA-A-
-
-
-
3Gain-
HLA-B-
-
-
-
3Gain-
HLA-C-
-
-
-
3Gain-
HLA-DMA-
-
-
-
3Gain-
HLA-DMB-
-
-
-
3Gain-
HLA-DOA-
-
-
-
3Gain-
HLA-DOB-
-
-
-
3Gain-
HLA-DPA1-
-
-
-
3Gain-
HLA-DPB1-
-
-
-
3Gain-
HLA-DQA1-
-
-
-
3Gain-
HLA-DQA2-
-
-
-
3Gain-
HLA-DQB1-
-
-
-
3Gain-
HLA-DQB2-
-
-
-
3Gain-
HLA-DRA-
-
-
-
3Gain-
HLA-DRB1-
-
-
-
3Gain-
HLA-DRB5-
-
-
-
3Gain-
HLA-E-
-
-
-
3Gain-
HLA-F-
-
-
-
3Gain-
HLA-G-
-
-
-
3Gain-
HLCS-
-
-
-
1Loss-
HLTF-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMGA1-
-
-
-
3Gain-
HMGB1-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HNF4G-
-
-
-
3Gain-
HNMT-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
6Amp-
HNRNPA3-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HORMAD2-
-
-
-
1Loss-
HOXA1-
-
-
-
6Amp-
HOXA10-
-
-
-
6Amp-
HOXA11-
-
-
-
6Amp-
HOXA13-
-
-
-
6Amp-
HOXA2-
-
-
-
6Amp-
HOXA3-
-
-
-
6Amp-
HOXA4-
-
-
-
6Amp-
HOXA5-
-
-
-
6Amp-
HOXA6-
-
-
-
6Amp-
HOXA7-
-
-
-
6Amp-
HOXA9-
-
-
-
6Amp-
HOXD1-
-
-
-
1Loss-
HOXD10-
-
-
-
1Loss-
HOXD11-
-
-
-
1Loss-
HOXD12-
-
-
-
1Loss-
HOXD13-
-
-
-
1Loss-
HOXD3-
-
-
-
1Loss-
HOXD4-
-
-
-
1Loss-
HOXD8-
-
-
-
1Loss-
HOXD9-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPS4-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH4-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST5-
-
-
-
1Loss-
HS6ST1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD17B8-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSPA13-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPBAP1-
-
-
-
3Gain-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HSPG2p.E3306Q
Missense
SNP
1.000
2--
HSPH1-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTRA4-
-
-
-
1Loss-
HUNK-
-
-
-
1Loss-
HUS1-
-
-
-
6Amp-
HUS1B-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ICA1-
-
-
-
6Amp-
ICA1L-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
ID4-
-
-
-
3Gain-
IDH1-
-
-
-
1Loss-
IDH2-DT-
-
-
-
NDNDIQGAP1--IDH2-DT
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER3-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IFIH1-
-
-
-
1Loss-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT20-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74p.Q64E
Missense
SNP
0.441
2--
IFT80-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGF2BP3-
-
-
-
6Amp-
IGF2R-
-
-
-
1Loss-
IGFBP1-
-
-
-
6Amp-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
6Amp-
IGFBP5-
-
-
-
1Loss-
IGHD-
-
-
-
3Gain-
IGHV3-72-
-
-
-
3Gain-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF5-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IKZF1-
-
-
-
6Amp-
IKZF2-
-
-
-
1Loss-
IL10RB-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL12RB2p.S748*
Nonsense
SNP
0.314
2--
IL15RA-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18R1-
-
-
-
1Loss-
IL18RAP-
-
-
-
1Loss-
IL1A-
-
-
-
1Loss-
IL1B-
-
-
-
1Loss-
IL1F10-
-
-
-
1Loss-
IL1R1-
-
-
-
1Loss-
IL1R2-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL1RL1-
-
-
-
1Loss-
IL1RL2-
-
-
-
1Loss-
IL1RN-
-
-
-
1Loss-
IL20RA-
-
-
-
1Loss-
IL20RB-
-
-
-
3Gain-
IL22RA2-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL36A-
-
-
-
1Loss-
IL36B-
-
-
-
1Loss-
IL36G-
-
-
-
1Loss-
IL36RN-
-
-
-
1Loss-
IL37-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
6Amp-
IL7-
-
-
-
3Gain-
ILDR1-
-
-
-
3Gain-
ILKAP-
-
-
-
1Loss-
IMP4-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPACT-
-
-
-
1Loss-
IMPAD1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
ING1-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
6Amp-
INHBB-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
6Amp-
INMT-MINDY4-
-
-
-
6Amp-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
1Loss-
INPP1-
-
-
-
1Loss-
INPP4A-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INSIG2-
-
-
-
1Loss-
INSM2p.L499H
Missense
SNP
0.443
2--
INTS1-
-
-
-
6Amp-
INTS10-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
INTS8-
-
-
-
3Gain-
INTS9p.E503K
Missense
SNP
0.993
2--
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IP6K3-
-
-
-
3Gain-
IPCEF1-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCE-
-
-
-
6Amp-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQGAP1-
-
-
-
2-IQGAP1--IDH2-DT
IQGAP3p.D1127H
Missense
SNP
0.306
2--
IQSEC1-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF2BP2p.E248K
Missense
SNP
0.472
2--
IRF4-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
ISPD-
-
-
-
6Amp-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITGA4-
-
-
-
1Loss-
ITGA6-
-
-
-
1Loss-
ITGA8-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGAV-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB5-
-
-
-
3Gain-
ITGB6-
-
-
-
1Loss-
ITGB8-
-
-
-
6Amp-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR3-
-
-
-
3Gain-
ITPRID1-
-
-
-
6Amp-
ITPRID2-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
1Loss-
ITSN1-
-
-
-
1Loss-
IWS1-
-
-
-
1Loss-
IYD-
-
-
-
1Loss-
JAG2-
-
-
-
3Gain-
JAGN1-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JARID2-
-
-
-
3Gain-
JAZF1-
-
-
-
6Amp-
JCAD-
-
-
-
1Loss-
JMJD8p.E61K
Missense
SNP
0.556
2--
JPH1p.R156L
Missense
SNP
0.162
3Gain-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KALRNp.D273H
Missense
SNP
0.839
3Gain-
KANSL1L-
-
-
-
1Loss-
KANSL3-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD2-
-
-
-
6Amp-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNH7-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP2p.E56D
Missense
SNP
0.443
2--
KCNIP3-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ3-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNK9-
-
-
-
3Gain-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN4p.Q395H
Missense
SNP
0.610
2--
KCNQ3-
-
-
-
3Gain-
KCNQ5-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNS2-
-
-
-
3Gain-
KCNT2p.S675F
Missense
SNP
0.225
2--
KCNV1-
-
-
-
3Gain-
KCTD1-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD3p.L719F
Missense
SNP
0.344
2--
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1p.L277V
Missense
SNP
0.737
1Loss-
KDELC2p.P171L
Missense
SNP
0.342
2--
KDELR2-
-
-
-
6Amp-
KDM1B-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDRBS2-
-
-
-
1Loss-
KHDRBS3-
-
-
-
3Gain-
KHNYN-
-
-
-
1Loss-
KIAA0100-
-
-
-
3Gain-
KIAA0319-
-
-
-
3Gain-
KIAA0408-
-
-
-
1Loss-
KIAA0895-
-
-
-
6Amp-
KIAA0930p.R76S
Missense
SNP
0.435
2--
KIAA1143-
-
-
-
1Loss-
KIAA1211p.R746*
Nonsense
SNP
0.239
2--
KIAA1211L-
-
-
-
1Loss-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1328-
-
-
-
1Loss-
KIAA1671-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2026p.Q1128*
Nonsense
SNP
0.529
2--
KIF13A-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16Bp.I860V
Missense
SNP
0.498
2--
KIF1A-
-
-
-
1Loss-
KIF24p.Q477*
Nonsense
SNP
0.493
2--
KIF25-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC1-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLF10-
-
-
-
3Gain-
KLF12-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHDC9p.R28T
Missense
SNP
0.668
2--
KLHL1-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL23-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL30-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL41-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL7-
-
-
-
6Amp-
KMT2Cp.L4663V
Missense
SNP
0.439
2--
KNG1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
3Gain-
KPNA5-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRT2p.F636L
Missense
SNP
0.296
2--
KRTAP11-1-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-6-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP20-4-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP21-3-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KSR1-
-
-
-
3Gain-
KY-
-
-
-
3Gain-
KYAT3p.M401I
Missense
SNP
0.283
2--
KYNU-
-
-
-
1Loss-
L3MBTL3-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LACTB2-
-
-
-
3Gain-
LAMA2-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
6Amp-
LAPTM4B-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1p.Q108H
Missense
SNP
1.000
2--
LATS1-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCA5L-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCT-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEMD2-
-
-
-
3Gain-
LETM2-
-
-
-
1Loss-
LFNG-
-
-
-
6Amp-
LGALS9-
-
-
-
3Gain-
LGSN-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LILRB4p.R421T
Missense
SNP
0.657
2--
LIMD1-
-
-
-
1Loss-
LIMK2-
-
-
-
1Loss-
LIMS1-
-
-
-
1Loss-
LIMS2-
-
-
-
1Loss-
LIMS3-
-
-
-
1Loss-
LIMS3-LOC440895-
-
-
-
1Loss-
LIMS4-
-
-
-
1Loss-
LIN28B-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPI-
-
-
-
1Loss-
LIPT1-
-
-
-
1Loss-
LLGL1p.E16K
Missense
SNP
0.476
2--
LMAN1-
-
-
-
1Loss-
LMAN2L-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMO1p.F114L
Missense
SNP
0.487
2--
LMO7-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNPK-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LONRF2-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR6p.Q327*
Nonsense
SNP
0.378
1Loss-
LPIN2-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LPP-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRCH3-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRP12-
-
-
-
3Gain-
LRP1B-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRRC14-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC37B-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC69-
-
-
-
3Gain-
LRRC7p.L53I
Missense
SNP
0.390
2--
LRRC72-
-
-
-
6Amp-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC9p.D1352H
Missense
SNP
0.219
2--
LRRCC1-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM2-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
6Amp-
LSMEM2-
-
-
-
1Loss-
LST1-
-
-
-
3Gain-
LTA-
-
-
-
3Gain-
LTB-
-
-
-
3Gain-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LUC7Lp.A164V
Missense
SNP
0.467
2--
LXN-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6G5B-
-
-
-
3Gain-
LY6G5C-
-
-
-
3Gain-
LY6G6C-
-
-
-
3Gain-
LY6G6D-
-
-
-
3Gain-
LY6G6E-
-
-
-
3Gain-
LY6G6F-
-
-
-
3Gain-
LY6G6F-LY6G6D-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY75-
-
-
-
1Loss-
LY75-CD302-
-
-
-
1Loss-
LY86-
-
-
-
6Amp-
LY96-
-
-
-
3Gain-
LYG1-
-
-
-
1Loss-
LYG2-
-
-
-
1Loss-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD1-
-
-
-
1Loss-
LYPD2-
-
-
-
3Gain-
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LYPLA1-
-
-
-
3Gain-
LYRM2-
-
-
-
1Loss-
LYRM4-
-
-
-
1Loss-
LYRM9-
-
-
-
3Gain-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
M1APp.Q445*
Nonsense
SNP
0.207
2--
MAATS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
6Amp-
MAD1L1-
-
-
-
6Amp-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFK-
-
-
-
6Amp-
MAGEF1-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGOHBp.E22Q
Missense
SNP
0.511
2--
MAIP1-
-
-
-
1Loss-
MAL-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MALL-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MALSU1-
-
-
-
6Amp-
MALT1-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1Bp.L746V
Missense
SNP
0.444
2--
MAP2-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K19-
-
-
-
1Loss-
MAP3K2-
-
-
-
1Loss-
MAP3K20-
-
-
-
1Loss-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K4-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAP7-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH7-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARCO-
-
-
-
1Loss-
MARSp.Q550*
Nonsense
SNP
0.525
2--
MARS2-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
3Gain-
MASP1-
-
-
-
3Gain-
MASTL-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MAXp.Q134*
Nonsense
SNP
0.513
2--
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBD5-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBOAT1-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCD1-
-
-
-
3Gain-
MCF2Lp.S220C
Missense
SNP
0.410
1Loss-
MCF2L2-
-
-
-
3Gain-
MCHR2-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM4-
-
-
-
3Gain-
MCM6-
-
-
-
1Loss-
MCM9-
-
-
-
1Loss-
MCMDC2-
-
-
-
3Gain-
MCOLN1p.G556R
Missense
SNP
0.277
2--
MCPH1-
-
-
-
1Loss-
MDC1-
-
-
-
3Gain-
MDH1B-
-
-
-
1Loss-
MDN1-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME1p.E245Q
Missense
SNP
0.333
1Loss-
ME2-
-
-
-
1Loss-
MECOM-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED15-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MED4-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEI4-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEOX2-
-
-
-
6Amp-
MEP1B-
-
-
-
1Loss-
MERTK-
-
-
-
1Loss-
METAP1D-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
METTL5-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
METTL8-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MFSD6-
-
-
-
1Loss-
MFSD9-
-
-
-
1Loss-
MGAT4A-
-
-
-
1Loss-
MGAT5-
-
-
-
1Loss-
MGLL-
-
-
-
3Gain-
MIB1-
-
-
-
1Loss-
MICA-
-
-
-
3Gain-
MICAL1-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICALL2-
-
-
-
6Amp-
MICB-
-
-
-
3Gain-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
6Amp-
MINDY4B-
-
-
-
3Gain-
MIOS-
-
-
-
6Amp-
MIPEP-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MITD1-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLN-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MMADHC-
-
-
-
1Loss-
MMD2-
-
-
-
6Amp-
MME-
-
-
-
3Gain-
MMP11-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMS22L-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MOB4-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOG-
-
-
-
3Gain-
MOGAT1-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORC3-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPIG6B-
-
-
-
3Gain-
MPLKIP-
-
-
-
6Amp-
MPP4-
-
-
-
1Loss-
MPP6-
-
-
-
6Amp-
MPP7-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRC1p.L1134V
Missense
SNP
0.463
1Loss-
MREG-
-
-
-
1Loss-
MRM2-
-
-
-
6Amp-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL18-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL30-
-
-
-
1Loss-
MRPL32-
-
-
-
6Amp-
MRPL39-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL52-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPS17-
-
-
-
6Amp-
MRPS18B-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS24-
-
-
-
6Amp-
MRPS25-
-
-
-
1Loss-
MRPS28-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS5-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRPS9-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MSC-
-
-
-
3Gain-
MSH5-
-
-
-
3Gain-
MSH5-SAPCD1-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTN-
-
-
-
1Loss-
MTA1-
-
-
-
3Gain-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTERF4-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTFR2-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR6-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTRF1L-
-
-
-
1Loss-
MTSS1-
-
-
-
3Gain-
MTURN-
-
-
-
6Amp-
MTUS1-
-
-
-
1Loss-
MTUS2p.G312S
Missense
SNP
0.628
1Loss-
MTX2-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16p.P1564R
Missense
SNP
0.378
1Loss-
MUC17p.E202K
Missense
SNP
0.493
2--
MUC20-
-
-
-
3Gain-
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUC5Bp.N2148K
Missense
SNP
0.284
2--
MUCL3-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBBP1Ap.Q114H
Missense
SNP
1.000
2--
MYBL1-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH15-
-
-
-
3Gain-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL7-
-
-
-
6Amp-
MYLIP-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYLK4-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO18A-
-
-
-
3Gain-
MYO18B-
-
-
-
1Loss-
MYO1B-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO1G-
-
-
-
6Amp-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO6-
-
-
-
1Loss-
MYO7B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA80-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NAB1-
-
-
-
1Loss-
NABP1-
-
-
-
1Loss-
NACAD-
-
-
-
6Amp-
NAIF1p.Q318H
Missense
SNP
0.430
2--
NALCN-
-
-
-
1Loss-
NAPRT-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAV2p.A468T
Missense
SNP
0.452
2--
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
3Gain-
NBPF15-
-
-
-
1Loss-
NBPF20-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAM2-
-
-
-
1Loss-
NCAPH-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCK2-
-
-
-
1Loss-
NCKAP1-
-
-
-
1Loss-
NCKAP5-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA7-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR3-
-
-
-
3Gain-
NDC80p.R576*
Nonsense
SNP
0.568
1Loss-
NDFIP2-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA4-
-
-
-
6Amp-
NDUFAF3-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFAF6-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NDUFS1-
-
-
-
1Loss-
NEB-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK8-
-
-
-
3Gain-
NELFE-
-
-
-
3Gain-
NEMP2-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU1-
-
-
-
3Gain-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL3-
-
-
-
1Loss-
NEUROD1-
-
-
-
1Loss-
NEUROD6-
-
-
-
6Amp-
NF1-
-
-
-
3Gain-
NF2-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC3p.D308H
Missense
SNP
0.432
2--
NFATC4p.S397Y
Missense
SNP
1.000
1Loss-
NFE2L1p.Q293E
Missense
SNP
1.000
2--
NFE2L2-
-
-
-
1Loss-
NFE2L3-
-
-
-
6Amp-
NFICp.H23D
Missense
SNP
0.347
2--
NFKBIL1-
-
-
-
3Gain-
NFKBIZ-
-
-
-
3Gain-
NGDN-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLRC1-
-
-
-
3Gain-
NHLRC3-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NIF3L1-
-
-
-
1Loss-
NIFK-
-
-
-
1Loss-
NINp.R107L
Missense
SNP
0.467
2--
NIPAL2-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
6Amp-
NISCH-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN2-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAPL-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLK-
-
-
-
3Gain-
NMBR-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
6Amp-
NME9-
-
-
-
3Gain-
NMI-
-
-
-
1Loss-
NMNAT3-
-
-
-
3Gain-
NMS-
-
-
-
1Loss-
NMT2-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NOBOXp.G331R
Missense
SNP
0.485
2--
NOD1-
-
-
-
6Amp-
NOL10p.K648N
Missense
SNP
0.508
2--
NOL4-
-
-
-
1Loss-
NOP58p.D170H
Missense
SNP
0.625
1Loss-
NOP9-
-
-
-
1Loss-
NOS2-
-
-
-
3Gain-
NOSTRIN-
-
-
-
1Loss-
NOTCH1p.R2004P
p.G661S
Missense
Missense
SNP
SNP
0.465
0.470
NDND-
NOTCH4-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
NOX3-
-
-
-
1Loss-
NPAS2-
-
-
-
1Loss-
NPBWR1-
-
-
-
3Gain-
NPC1-
-
-
-
1Loss-
NPC1L1-
-
-
-
6Amp-
NPHP1-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPPC-
-
-
-
1Loss-
NPR2p.E415K
Missense
SNP
0.989
2--
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
6Amp-
NPVF-
-
-
-
6Amp-
NPY-
-
-
-
6Amp-
NQO2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NRBP2-
-
-
-
3Gain-
NRIP1-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRM-
-
-
-
3Gain-
NRN1-
-
-
-
3Gain-
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRSN1-
-
-
-
3Gain-
NSD3-
-
-
-
1Loss-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSRP1-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5C3A-
-
-
-
6Amp-
NT5DC1-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5DC4-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NUBP1p.T176M
Missense
SNP
0.458
2--
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
6Amp-
NUDT1-
-
-
-
6Amp-
NUDT14-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT19-
-
-
-
1Loss-
NUDT3-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUFIP2-
-
-
-
3Gain-
NUP153-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP35-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUPL2-
-
-
-
6Amp-
NUPR2-
-
-
-
6Amp-
NUS1-
-
-
-
1Loss-
NVLp.D753H
Missense
SNP
0.296
2--
NXPE3-
-
-
-
3Gain-
NXPH1-
-
-
-
6Amp-
NXPH2-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCM-
-
-
-
6Amp-
ODF1-
-
-
-
3Gain-
OGDH-
-
-
-
6Amp-
OGFRL1-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OLA1-
-
-
-
1Loss-
OLAH-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OLIG3-
-
-
-
1Loss-
OMG-
-
-
-
3Gain-
ONECUT2-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPCMLp.V105L
Missense
SNP
0.487
2--
OPLAH-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OPRM1-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10C1-
-
-
-
3Gain-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR11A1-
-
-
-
3Gain-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR12D2-
-
-
-
3Gain-
OR12D3-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR1M1-
-
-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2H1-
-
-
-
3Gain-
OR2H2-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2W1p.F73L
Missense
SNP
0.172
3Gain-
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR5AC2-
-
-
-
3Gain-
OR5AU1-
-
-
-
1Loss-
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5V1-
-
-
-
3Gain-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR9I1p.D52H
Missense
SNP
0.429
2--
ORC2-
-
-
-
1Loss-
ORC3-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORMDL1-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL1A-
-
-
-
1Loss-
OSBPL3-
-
-
-
6Amp-
OSBPL6-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGEPL1-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSR2-
-
-
-
3Gain-
OSTM1-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOL1-
-
-
-
3Gain-
OTOS-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OXA1L-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC3-
-
-
-
1Loss-
PABPC4L-
-
-
-
3Gain-
PABPN1-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACS2-
-
-
-
3Gain-
PACSIN1-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PAN3-
-
-
-
1Loss-
PAPOLB-
-
-
-
6Amp-
PAQR9-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PASK-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX3-
-
-
-
1Loss-
PAX8-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX2-
-
-
-
3Gain-
PBXIP1p.R435K
Missense
SNP
0.663
2--
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH10-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
3Gain-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
3Gain-
PCDHGA3p.L77V
Missense
SNP
0.407
2--
PCID2-
-
-
-
1Loss-
PCK2-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
3Gain-
PCNP-
-
-
-
3Gain-
PCNT-
-
-
-
1Loss-
PCOLCE2-
-
-
-
3Gain-
PCP4-
-
-
-
1Loss-
PCYT1A-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD10-
-
-
-
3Gain-
PDCD2-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCL3-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE11A-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE1A-
-
-
-
1Loss-
PDE1C-
-
-
-
6Amp-
PDE3Ap.E1053K
Missense
SNP
0.530
2--
PDE6D-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDGFA-
-
-
-
6Amp-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDK1-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDS5B-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PECR-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PER2-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PEX2-
-
-
-
3Gain-
PEX26-
-
-
-
1Loss-
PEX3-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PEX7-
-
-
-
1Loss-
PFDN6-
-
-
-
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PGAM2-
-
-
-
6Amp-
PGAP1-
-
-
-
1Loss-
PGBD1-
-
-
-
3Gain-
PGM3p.L348F
Missense
SNP
0.379
1Loss-
PHACTR2-
-
-
-
1Loss-
PHC3-
-
-
-
3Gain-
PHF1-
-
-
-
3Gain-
PHF10-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF12-
-
-
-
3Gain-
PHF14-
-
-
-
6Amp-
PHF20L1-
-
-
-
3Gain-
PHF3-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKG1-
-
-
-
6Amp-
PHLDA1p.Q344*
p.W272C
Nonsense
Missense
SNP
SNP
0.484
0.482
2--
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI4KA-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIGHp.R35G
Missense
SNP
0.460
2--
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIGRp.E402Q
Missense
SNP
0.697
2--
PIGS-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIK3C3-
-
-
-
1Loss-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1p.R574T
Missense
SNP
0.457
2--
PIK3R4-
-
-
-
3Gain-
PIKFYVE-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIPOX-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PJVK-
-
-
-
1Loss-
PKD1L1-
-
-
-
6Amp-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIB-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2R1-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL1-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCD4-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLEC-
-
-
-
3Gain-
PLEKHA2-
-
-
-
1Loss-
PLEKHA3-
-
-
-
1Loss-
PLEKHA8-
-
-
-
6Amp-
PLEKHB2-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHH1p.M116I
Missense
SNP
0.398
2--
PLEKHM3-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLLPp.I109M
Missense
SNP
0.381
2--
PLN-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLPP5-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXND1-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMM2p.R141C
Missense
SNP
0.458
2--
PMP2-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMS1-
-
-
-
1Loss-
PMS2-
-
-
-
6Amp-
PNISR-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNRC1-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLD2-
-
-
-
6Amp-
POLDIP2-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLM-
-
-
-
6Amp-
POLQ-
-
-
-
3Gain-
POLR1B-
-
-
-
1Loss-
POLR1D-
-
-
-
1Loss-
POLR2D-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POM121L12-
-
-
-
6Amp-
POM121L2-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMP-
-
-
-
1Loss-
POP1-
-
-
-
3Gain-
POP4-
-
-
-
1Loss-
POPDC2-
-
-
-
3Gain-
POPDC3-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU3F3-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU5F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU6F2-
-
-
-
6Amp-
PP2D1-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPDPFL-
-
-
-
3Gain-
PPIA-
-
-
-
6Amp-
PPIG-
-
-
-
1Loss-
PPIL1p.E146K
Missense
SNP
0.700
2--
PPIL2-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPLp.E1400Q
Missense
SNP
0.489
2--
PPM1F-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPP1R10-
-
-
-
3Gain-
PPP1R11-
-
-
-
3Gain-
PPP1R14C-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R17-
-
-
-
6Amp-
PPP1R18-
-
-
-
3Gain-
PPP1R1C-
-
-
-
1Loss-
PPP1R2-
-
-
-
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP1R3G-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2Cp.E267Q
Missense
SNP
0.560
2--
PPP2R3A-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PQLC2L-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRAM1p.E220K
Missense
SNP
0.695
2--
PRAME-
-
-
-
1Loss-
PRC1p.S373*
Nonsense
SNP
0.437
2--
PRDM1-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PREP-
-
-
-
1Loss-
PREX2-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR1B-
-
-
-
6Amp-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCHp.Q424H
Missense
SNP
0.243
2--
PRKCI-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKDC-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRKRA-
-
-
-
1Loss-
PRL-
-
-
-
3Gain-
PRLH-
-
-
-
1Loss-
PRMT2-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PROC-
-
-
-
1Loss-
PROCA1-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROM2-
-
-
-
1Loss-
PROS1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF40A-
-
-
-
1Loss-
PRPF4B-
-
-
-
1Loss-
PRPS1L1-
-
-
-
6Amp-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
6Amp-
PRR18-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR3-
-
-
-
3Gain-
PRRC2A-
-
-
-
3Gain-
PRRT1-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRSS16-
-
-
-
3Gain-
PRSS35-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
1Loss-
PSD4-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
6Amp-
PSMA8-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMD1-
-
-
-
1Loss-
PSMD11-
-
-
-
3Gain-
PSMD14-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD9p.A75S
Missense
SNP
0.405
2--
PSME1-
-
-
-
1Loss-
PSME2p.S221R
Missense
SNP
0.993
1Loss-
PSMG1-
-
-
-
1Loss-
PSMG3-
-
-
-
6Amp-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
3Gain-
PSORS1C2-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSPH-
-
-
-
6Amp-
PSTPIP2-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTP4A1-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN18-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN4-
-
-
-
1Loss-
PTPRCp.P562L
Missense
SNP
0.305
2--
PTPRDp.S569L
Missense
SNP
0.443
2--
PTPRG-
-
-
-
1Loss-
PTPRHp.Q237*
Nonsense
SNP
0.332
2--
PTPRK-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRRp.L235V
Missense
SNP
0.598
2--
PTX3-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PURB-
-
-
-
6Amp-
PXDC1-
-
-
-
1Loss-
PXDNp.I1356T
Missense
SNP
0.505
2--
PXDNL-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PXYLP1-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYROXD2p.G517E
Missense
SNP
0.384
2--
QARS-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HDM1-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB2B-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB34-
-
-
-
3Gain-
RAB36-
-
-
-
1Loss-
RAB3GAP1-
-
-
-
1Loss-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB6B-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RAB7A-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABL2A-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RAC1-
-
-
-
6Amp-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RADIL-
-
-
-
6Amp-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAF1p.R298T
Missense
SNP
0.431
1Loss-
RALA-
-
-
-
6Amp-
RALB-
-
-
-
1Loss-
RALGPS1p.E108Q
Missense
SNP
0.533
2--
RALYL-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
6Amp-
RANBP1-
-
-
-
1Loss-
RANBP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF4-
-
-
-
1Loss-
RAPGEF5-
-
-
-
6Amp-
RAPH1-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RARS2-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
6Amp-
RBAK-RBAKDN-
-
-
-
6Amp-
RBBP5p.Q183*
Nonsense
SNP
0.713
2--
RBBP8-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM12B-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM24-
-
-
-
3Gain-
RBM26-
-
-
-
1Loss-
RBM43-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM45-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS1p.Q228H
Missense
SNP
0.756
1Loss-
RBMS3-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RCAN1-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
REC8-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
RELCH-
-
-
-
1Loss-
REM2-
-
-
-
1Loss-
RENBPp.D309N
Missense
SNP
0.486
NDND-
REPS1-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REV1-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFX6-
-
-
-
1Loss-
RFX8-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL2-
-
-
-
3Gain-
RGL4-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGPD3-
-
-
-
1Loss-
RGPD4-
-
-
-
1Loss-
RGPD5-
-
-
-
1Loss-
RGPD6-
-
-
-
1Loss-
RGPD8-
-
-
-
1Loss-
RGS1p.Q96L
Missense
SNP
0.674
2--
RGS17-
-
-
-
1Loss-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS9BP-
-
-
-
1Loss-
RHBDD1-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHBDL3-
-
-
-
3Gain-
RHBGp.E373Q
Missense
SNP
0.662
2--
RHO-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOT1-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RIF1-
-
-
-
1Loss-
RIMS1-
-
-
-
1Loss-
RIMS2-
-
-
-
3Gain-
RING1-
-
-
-
3Gain-
RIOK1-
-
-
-
6Amp-
RIOK3-
-
-
-
1Loss-
RIOX2-
-
-
-
3Gain-
RIPK1-
-
-
-
1Loss-
RIPK2-
-
-
-
3Gain-
RIPK3-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIPPLY2-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RMND1-
-
-
-
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-
RNASEH2B-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF135-
-
-
-
3Gain-
RNF138-
-
-
-
1Loss-
RNF139-
-
-
-
3Gain-
RNF144B-
-
-
-
3Gain-
RNF146-
-
-
-
1Loss-
RNF149-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF17-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF212B-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF216-
-
-
-
6Amp-
RNF217-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF225-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF39-
-
-
-
3Gain-
RNF5-
-
-
-
3Gain-
RNF6-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNGTT-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROS1-
-
-
-
1Loss-
RP1-
-
-
-
3Gain-
RP1-130H16.18p.Q356E
Missense
SNP
0.300
NDND-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
6Amp-
RPA3-
-
-
-
6Amp-
RPE-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL23A-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL29-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL31-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL39L-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPN1-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP21-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPP40-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRM-
-
-
-
1Loss-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS12-
-
-
-
1Loss-
RPS18-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RPS5-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RREB1-
-
-
-
6Amp-
RRM2B-
-
-
-
3Gain-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSPH10B-
-
-
-
6Amp-
RSPH10B2-
-
-
-
6Amp-
RSPH14-
-
-
-
1Loss-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPO2-
-
-
-
3Gain-
RSPO3-
-
-
-
1Loss-
RSRC1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUNX1T1-
-
-
-
3Gain-
RUVBL1-
-
-
-
3Gain-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RWDD2B-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXRB-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR1p.E689*
Nonsense
SNP
0.344
2--
S100B-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL1p.G162S
Missense
SNP
0.164
2--
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD12-
-
-
-
3Gain-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD7-
-
-
-
3Gain-
SAMSN1-
-
-
-
1Loss-
SAP130-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SAPCD1-
-
-
-
3Gain-
SARM1-
-
-
-
3Gain-
SASH1-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SCAF4-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCHIP1-
-
-
-
3Gain-
SCIN-
-
-
-
6Amp-
SCLY-
-
-
-
1Loss-
SCML4-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1A-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCN7A-
-
-
-
1Loss-
SCN9A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCRIB-
-
-
-
3Gain-
SCRN1-
-
-
-
6Amp-
SCRN3-
-
-
-
1Loss-
SCRT1-
-
-
-
3Gain-
SCTR-
-
-
-
1Loss-
SCUBE3-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDF2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDHAF4-
-
-
-
1Loss-
SDK1-
-
-
-
6Amp-
SDR16C5-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SEBOX-
-
-
-
3Gain-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC16Ap.Y1243C
Missense
SNP
0.504
NDND-
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
6Amp-
SEC62-
-
-
-
3Gain-
SEC63-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOT-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4C-
-
-
-
1Loss-
SEMA5B-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
1Loss-
SENP7-
-
-
-
3Gain-
SEPHS1-
-
-
-
1Loss-
SEPT10-
-
-
-
1Loss-
SEPT14-
-
-
-
6Amp-
SEPT2-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
6Amp-
SERAC1-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINB1-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB6-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINB9-
-
-
-
1Loss-
SERPIND1-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESN1-
-
-
-
1Loss-
SESTD1-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6-
-
-
-
3Gain-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B1-
-
-
-
1Loss-
SF3B5-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP4-
-
-
-
6Amp-
SFT2D1-
-
-
-
1Loss-
SFT2D3-
-
-
-
1Loss-
SFTA2-
-
-
-
3Gain-
SFXN1p.R48K
Missense
SNP
0.565
2--
SGCG-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGK3-
-
-
-
3Gain-
SGK494-
-
-
-
3Gain-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3RF3-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHISA2-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKAP2-
-
-
-
6Amp-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKIV2L-
-
-
-
3Gain-
SKIV2L2p.M985I
Missense
SNP
0.540
NDND-
SKOR2-
-
-
-
1Loss-
SLA-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A5-
-
-
-
3Gain-
SLC11A1-
-
-
-
1Loss-
SLC12A8-
-
-
-
3Gain-
SLC13A2-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC16A10-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A5p.I178M
Missense
SNP
0.996
2--
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A5-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC20A1-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC25A1-
-
-
-
1Loss-
SLC25A12-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A32-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC29A3-
-
-
-
3Gain-
SLC29A4-
-
-
-
6Amp-
SLC2A11-
-
-
-
1Loss-
SLC2A12-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC33A1-
-
-
-
3Gain-
SLC35A1-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35B3-
-
-
-
5Amp-
SLC35D3-
-
-
-
1Loss-
SLC35F1-
-
-
-
1Loss-
SLC35F5-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC35G5-
-
-
-
1Loss-
SLC36A2p.G280D
Missense
SNP
0.423
2--
SLC38A11-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC39A10-
-
-
-
1Loss-
SLC39A12-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC39A7-
-
-
-
3Gain-
SLC40A1-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC44A4-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC46A1-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC4A10-
-
-
-
1Loss-
SLC4A2p.D70N
Missense
SNP
0.118
2--
SLC4A3-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A7-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A4-
-
-
-
3Gain-
SLC6A6-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLC7A13-
-
-
-
3Gain-
SLC7A14-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A4-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC7A9-
-
-
-
1Loss-
SLC9A2-
-
-
-
1Loss-
SLC9A4-
-
-
-
1Loss-
SLC9A9-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLITRK3-
-
-
-
3Gain-
SLITRK5p.S20I
Missense
SNP
0.655
2--
SLMAP-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMC4-
-
-
-
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO1-
-
-
-
3Gain-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM29-
-
-
-
3Gain-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMYD1-
-
-
-
1Loss-
SNAI2-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNAP91-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNIP1p.R14*
Nonsense
SNP
0.379
2--
SNORC-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP200-
-
-
-
1Loss-
SNRNP48-
-
-
-
5Amp-
SNRPC-
-
-
-
3Gain-
SNRPD1-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNTN-
-
-
-
1Loss-
SNX10-
-
-
-
6Amp-
SNX13-
-
-
-
6Amp-
SNX14-
-
-
-
1Loss-
SNX16-
-
-
-
3Gain-
SNX3-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SNX4-
-
-
-
3Gain-
SNX8-
-
-
-
6Amp-
SNX9-
-
-
-
1Loss-
SOBP-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SONp.K122N
Missense
SNP
0.319
1Loss-
SOSTDC1-
-
-
-
6Amp-
SOWAHC-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX14-
-
-
-
3Gain-
SOX17-
-
-
-
3Gain-
SOX18p.R102W
Missense
SNP
0.215
2--
SOX2p.E93K
Missense
SNP
0.154
3Gain-
SOX21-
-
-
-
1Loss-
SOX4-
-
-
-
3Gain-
SOX7-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP3-
-
-
-
1Loss-
SP4-
-
-
-
6Amp-
SP5-
-
-
-
1Loss-
SP8-
-
-
-
6Amp-
SP9-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPACA3-
-
-
-
3Gain-
SPACA7-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG5-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA3-
-
-
-
1Loss-
SPATA48-
-
-
-
6Amp-
SPATC1-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPC25-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDEF-
-
-
-
3Gain-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEG-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPINK8-
-
-
-
1Loss-
SPNp.L7V
p.T164I
Missense
Missense
SNP
SNP
0.646
0.458
2--
SPOCK1p.L39V
Missense
SNP
0.517
2--
SPOPL-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTSSB-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRGAP2B-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRRD-
-
-
-
1Loss-
SRSF12-
-
-
-
1Loss-
SS18-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSB-
-
-
-
1Loss-
SSH2p.Q517H
Missense
SNP
0.759
3Gain-
SSR1-
-
-
-
6Amp-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAG2p.H73Y
Missense
SNP
0.181
NDND-
STAM-
-
-
-
1Loss-
STAM2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD3NL-
-
-
-
6Amp-
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
1Loss-
STAT1-
-
-
-
1Loss-
STAT4-
-
-
-
1Loss-
STAU2-
-
-
-
3Gain-
STEAP1B-
-
-
-
6Amp-
STEAP3-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
6Amp-
STK17B-
-
-
-
1Loss-
STK19-
-
-
-
3Gain-
STK24-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
6Amp-
STK36-
-
-
-
1Loss-
STK39-
-
-
-
1Loss-
STMN2-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STMND1-
-
-
-
3Gain-
STOML3-
-
-
-
1Loss-
STRADB-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP5L-
-
-
-
3Gain-
STXBP6-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUGCT-
-
-
-
6Amp-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
3Gain-
SULT1C2-
-
-
-
1Loss-
SULT1C3-
-
-
-
1Loss-
SULT1C4-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
6Amp-
SUMO1-
-
-
-
1Loss-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
6Amp-
SUN3-
-
-
-
6Amp-
SUPT16H-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT6H-
-
-
-
3Gain-
SUSD2-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SUZ12-
-
-
-
3Gain-
SVIL-
-
-
-
1Loss-
SYBU-
-
-
-
3Gain-
SYCP1p.E358Q
Missense
SNP
0.296
2--
SYCP2p.E1045D
Missense
SNP
0.739
2--
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNE1-
-
-
-
1Loss-
SYNGAP1-
-
-
-
3Gain-
SYNJ1-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2p.Q658E
Missense
SNP
0.660
1Loss-
TACC1-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF11-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAF4B-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TANK-
-
-
-
1Loss-
TAOK1-
-
-
-
3Gain-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
6Amp-
TBC1D10A-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D29-
-
-
-
3Gain-
TBC1D31-
-
-
-
3Gain-
TBC1D32-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D8-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBR1-
-
-
-
1Loss-
TBRG4-
-
-
-
6Amp-
TBX1-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TBX20-
-
-
-
6Amp-
TBXT-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCF19-
-
-
-
3Gain-
TCF21-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCF4-
-
-
-
1Loss-
TCIM-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
3Gain-
TCTA-
-
-
-
1Loss-
TCTE3-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TDGF1-
-
-
-
1Loss-
TDP2-
-
-
-
3Gain-
TDRD12-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TEDC1-
-
-
-
3Gain-
TEFM-
-
-
-
3Gain-
TEKT3-
-
-
-
1Loss-
TEKT4-
-
-
-
1Loss-
TENM3-
-
-
-
4Gain-
TENM4p.F1992L
p.D748N
Missense
Missense
SNP
SNP
0.435
0.525
2--
TENT5A-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TESMINp.S393C
Missense
SNP
0.511
2--
TEX22-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX51-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFCP2L1-
-
-
-
1Loss-
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFG-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI-
-
-
-
1Loss-
TFRC-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
1Loss-
TGIF1-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGS1-
-
-
-
3Gain-
THAP4-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THEMIS-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THNSL2-
-
-
-
1Loss-
THOC1-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRAP3p.S764*
Nonsense
SNP
0.333
2--
THRB-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THSD7A-
-
-
-
6Amp-
THSD7B-
-
-
-
1Loss-
THTPA-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIAF1-
-
-
-
3Gain-
TIAM1-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGIT-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TKT-
-
-
-
1Loss-
TLCD1-
-
-
-
3Gain-
TLK1-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF20-
-
-
-
1Loss-
TM4SF4-
-
-
-
3Gain-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMCC1-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMED4-
-
-
-
6Amp-
TMEFF2-
-
-
-
1Loss-
TMEM106B-
-
-
-
6Amp-
TMEM108-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121-
-
-
-
3Gain-
TMEM121B-
-
-
-
1Loss-
TMEM127-
-
-
-
1Loss-
TMEM131-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM163-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM177-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM182-
-
-
-
1Loss-
TMEM184A-
-
-
-
6Amp-
TMEM185B-
-
-
-
1Loss-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM196-
-
-
-
6Amp-
TMEM198-
-
-
-
1Loss-
TMEM199-
-
-
-
3Gain-
TMEM200A-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM220-
-
-
-
1Loss-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM241-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
1Loss-
TMEM249-
-
-
-
3Gain-
TMEM253-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM37-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM50B-
-
-
-
1Loss-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM87B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM97-
-
-
-
3Gain-
TMEM98-
-
-
-
3Gain-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD1-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS7-
-
-
-
3Gain-
TMTC4-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNF-
-
-
-
3Gain-
TNFAIP1-
-
-
-
3Gain-
TNFAIP3-
-
-
-
1Loss-
TNFAIP6-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNK2-
-
-
-
3Gain-
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNRC18-
-
-
-
6Amp-
TNS1-
-
-
-
1Loss-
TNS3-
-
-
-
6Amp-
TNS4p.P335A
Missense
SNP
1.000
2--
TNXB-
-
-
-
3Gain-
TOMM7-
-
-
-
6Amp-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53p.R248Q
Missense
SNP
1.000
2--
TP53I13-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TPBG-
-
-
-
1Loss-
TPD52-
-
-
-
3Gain-
TPD52L1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPMT-
-
-
-
3Gain-
TPP2-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRA2A-
-
-
-
6Amp-
TRA2B-
-
-
-
3Gain-
TRAF3IP1-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAF4-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRANK1-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TRDMT1-
-
-
-
1Loss-
TRDN-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRGV8p.S79*
Nonsense
SNP
0.182
NDND-
TRH-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIL-
-
-
-
6Amp-
TRIM10-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM15-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM31-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
3Gain-
TRIM39-RPP21-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIP12-
-
-
-
1Loss-
TRIQK-
-
-
-
3Gain-
TRMT10Cp.D87N
Missense
SNP
0.195
3Gain-
TRMT11-
-
-
-
1Loss-
TRMT12-
-
-
-
3Gain-
TRMT2A-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC4-
-
-
-
1Loss-
TRPM8-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRPV2-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSGA10-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ3-
-
-
-
1Loss-
TSN-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN13-
-
-
-
6Amp-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSPYL5-
-
-
-
3Gain-
TSSC1p.D50N
Missense
SNP
0.427
NDND-
TSSK2-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TSTD3-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC28-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC30A-
-
-
-
1Loss-
TTC30B-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTI1p.C297Y
p.Q20*
Missense
Nonsense
SNP
SNP
0.450
0.500
2--
TTK-
-
-
-
1Loss-
TTL-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTNp.R15701T
Missense
SNP
0.660
1Loss-
TTPA-
-
-
-
3Gain-
TTYH3-
-
-
-
6Amp-
TUBA3C-
-
-
-
1Loss-
TUBA3D-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB-
-
-
-
3Gain-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBE1-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
6Amp-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
6Amp-
TXLNB-
-
-
-
1Loss-
TXNDC5-
-
-
-
5Amp-
TXNDC9-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
3Gain-
TYMS-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2AF2p.D314N
Missense
SNP
0.223
2--
U2SURP-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
3Gain-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBASH3A-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBD-
-
-
-
3Gain-
UBE2D4-
-
-
-
6Amp-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2L3-
-
-
-
1Loss-
UBE2L5-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3D-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBR3-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBTFp.Q204R
Missense
SNP
0.465
2--
UBXN2B-
-
-
-
3Gain-
UBXN4-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFL1-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UGGT1-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2B7p.Q234E
Missense
SNP
0.398
2--
UHRF1BP1-
-
-
-
3Gain-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
6Amp-
UMODL1-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC119-
-
-
-
3Gain-
UNC13Cp.R292S
Missense
SNP
0.506
2--
UNC50-
-
-
-
1Loss-
UNC80p.D956H
Missense
SNP
0.477
1Loss-
UNC93A-
-
-
-
1Loss-
UNCX-
-
-
-
6Amp-
UPB1-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPP1-
-
-
-
6Amp-
UPP2-
-
-
-
1Loss-
UQCC2-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URGCP-
-
-
-
6Amp-
URGCP-MRPS24-
-
-
-
6Amp-
URI1-
-
-
-
1Loss-
UROC1-
-
-
-
3Gain-
USF3-
-
-
-
3Gain-
USP12-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP14-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP34p.E622Q
Missense
SNP
0.503
2--
USP37-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP42-
-
-
-
6Amp-
USP43-
-
-
-
1Loss-
USP44p.S350*
p.L288V
Nonsense
Missense
SNP
SNP
0.499
0.503
2--
USP45-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP23-
-
-
-
3Gain-
UTP6-
-
-
-
3Gain-
UTRN-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
UXS1-
-
-
-
1Loss-
VARS-
-
-
-
3Gain-
VARS2-
-
-
-
3Gain-
VCANp.S1680N
Missense
SNP
0.461
2--
VCPIP1-
-
-
-
3Gain-
VEPH1-
-
-
-
3Gain-
VGLL1p.K5*
Nonsense
SNP
0.460
NDND-
VGLL2-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VOPP1-
-
-
-
6Amp-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13Bp.L1167F
Missense
SNP
0.504
3Gain-
VPS26C-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS41-
-
-
-
6Amp-
VPS4B-
-
-
-
1Loss-
VPS52-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VSIR-
-
-
-
3Gain-
VSTM2A-
-
-
-
6Amp-
VSTM2B-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTN-
-
-
-
3Gain-
VWA3B-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA7-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWC2-
-
-
-
6Amp-
VWC2L-
-
-
-
1Loss-
VWDE-
-
-
-
6Amp-
VXN-
-
-
-
3Gain-
WAC-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC5-
-
-
-
3Gain-
WBP4-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR24p.M726I
Missense
SNP
0.430
2--
WDR27-
-
-
-
1Loss-
WDR33-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR43p.D146H
Missense
SNP
0.468
2--
WDR46-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR6-
-
-
-
1Loss-
WDR64p.E790A
Missense
SNP
0.325
2--
WDR7-
-
-
-
1Loss-
WDR75-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR87p.F708L
Missense
SNP
0.324
1Loss-
WDR97-
-
-
-
3Gain-
WDSUB1-
-
-
-
1Loss-
WDYHV1-
-
-
-
3Gain-
WIPF1-
-
-
-
1Loss-
WIPF3-
-
-
-
6Amp-
WIPI2-
-
-
-
6Amp-
WISP1-
-
-
-
3Gain-
WISP3-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRNIP1-
-
-
-
1Loss-
WSB1-
-
-
-
3Gain-
WT1p.S6F
Missense
SNP
0.548
2--
WTAP-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWP1p.E485K
Missense
SNP
0.283
3Gain-
WWTR1-
-
-
-
3Gain-
XBP1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XIRP2p.P2312L
Missense
SNP
0.326
1Loss-
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPO5p.L357I
Missense
SNP
0.673
2--
XRCC2p.V184L
Missense
SNP
0.447
2--
XRCC5-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
6Amp-
YBEY-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YES1-
-
-
-
1Loss-
YKT6-
-
-
-
6Amp-
YME1L1-
-
-
-
1Loss-
YPEL1-
-
-
-
1Loss-
YTHDF3-
-
-
-
3Gain-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
3Gain-
Z82190.2-
-
-
-
1Loss-
Z84488.2-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZANp.D1384H
Missense
SNP
0.468
2--
ZAP70-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED9-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB11-
-
-
-
3Gain-
ZBTB12-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB20-
-
-
-
3Gain-
ZBTB21-
-
-
-
1Loss-
ZBTB22-
-
-
-
3Gain-
ZBTB24-
-
-
-
1Loss-
ZBTB34p.R466K
Missense
SNP
0.473
2--
ZBTB38-
-
-
-
3Gain-
ZBTB45-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB9-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H15-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H6-
-
-
-
1Loss-
ZC3H8-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC2-
-
-
-
1Loss-
ZDHHC20-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
6Amp-
ZDHHC8-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZEB2-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
6Amp-
ZFAND2B-
-
-
-
1Loss-
ZFAT-
-
-
-
3Gain-
ZFHX2-
-
-
-
1Loss-
ZFHX4-
-
-
-
3Gain-
ZFP28-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP57-
-
-
-
3Gain-
ZFP82p.R498K
Missense
SNP
0.356
2--
ZFPM2-
-
-
-
3Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4p.E69Q
Missense
SNP
0.189
3Gain-
ZKSCAN5p.L784V
Missense
SNP
0.488
2--
ZKSCAN7-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
3Gain-
ZMAT3-
-
-
-
3Gain-
ZMAT4-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMIZ2-
-
-
-
6Amp-
ZMYM2-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZNF112-
-
-
-
1Loss-
ZNF12-
-
-
-
6Amp-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF165-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF184-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF2-
-
-
-
1Loss-
ZNF207-
-
-
-
3Gain-
ZNF211-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF256-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF292-
-
-
-
1Loss-
ZNF30-
-
-
-
1Loss-
ZNF302-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF316-
-
-
-
6Amp-
ZNF317-
-
-
-
1Loss-
ZNF322-
-
-
-
3Gain-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF345-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF385B-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF391-
-
-
-
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF414p.K289N
p.E22Q
Missense
Missense
SNP
SNP
0.624
0.577
2--
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF479-
-
-
-
6Amp-
ZNF497-
-
-
-
1Loss-
ZNF500p.E227K
Missense
SNP
0.484
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF507-
-
-
-
1Loss-
ZNF514-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF518Bp.N782H
Missense
SNP
0.429
2--
ZNF521-
-
-
-
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF536-
-
-
-
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF559p.G207A
Missense
SNP
0.295
2--
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
ZNF573-
-
-
-
1Loss-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587Bp.S10C
Missense
SNP
0.308
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF599-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF628p.S105C
p.A235D
Missense
Missense
SNP
SNP
0.709
0.670
2--
ZNF639-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF70-
-
-
-
1Loss-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF71-
-
-
-
1Loss-
ZNF713-
-
-
-
6Amp-
ZNF716-
-
-
-
6Amp-
ZNF717-
-
-
-
1Loss-
ZNF74-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF76-
-
-
-
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF80-
-
-
-
3Gain-
ZNF804A-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF835-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
6Amp-
ZNF860-
-
-
-
1Loss-
ZNRD1-
-
-
-
3Gain-
ZNRF2-
-
-
-
6Amp-
ZNRF3-
-
-
-
1Loss-
ZPBP-
-
-
-
6Amp-
ZPLD1-
-
-
-
3Gain-
ZRANB3p.L890F
Missense
SNP
0.623
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN18-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN23-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN30-
-
-
-
1Loss-
ZSCAN31-
-
-
-
3Gain-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSCAN9-
-
-
-
3Gain-
ZSWIM2-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZUP1-
-
-
-
1Loss-
ZXDC-
-
-
-
3Gain-