PDMR-772611~094-R~XCCM999-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AADAT-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AASDH-
-
-
-
1Loss-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
5Amp-
ABCA3p.E506K
Missense
SNP
0.463
2--
ABCB1p.D26H
Missense
SNP
0.429
2--
ABCB11-
-
-
-
1Loss-
ABCB4p.R971T
Missense
SNP
0.506
2--
ABCB5-
-
-
-
5Amp-
ABCB6-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCE1-
-
-
-
1Loss-
ABCF1-
-
-
-
3Gain-
ABCF3-
-
-
-
3Gain-
ABCG1-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD12-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16A-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD18-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3BP-
-
-
-
3Gain-
ABLIM2-
-
-
-
3Gain-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
ABRAXAS1-
-
-
-
1Loss-
ABT1p.R150H
Missense
SNP
0.293
3Gain-
ABTB1-
-
-
-
3Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
5Amp-
AC004593.3-
-
-
-
5Amp-
AC004691.2-
-
-
-
5Amp-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
5Amp-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006978.2-
-
-
-
5Amp-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC009336.2-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
5Amp-
AC010326.2-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC018554.3-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
5Amp-
AC020636.2-
-
-
-
3Gain-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC021660.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC026316.5-
-
-
-
3Gain-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
1Loss-
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-
AC090360.1-
-
-
-
1Loss-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
3Gain-
AC092587.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
5Amp-
AC092835.1-
-
-
-
1Loss-
AC093323.1-
-
-
-
3Gain-
AC093827.5-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC107959.5-
-
-
-
3Gain-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
3Gain-
AC112128.1-
-
-
-
3Gain-
AC112229.3-
-
-
-
1Loss-
AC112504.2-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC126283.2-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
5Amp-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACMSD-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
3Gain-
ACOXL-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACR-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACTB-
-
-
-
5Amp-
ACTL10-
-
-
-
3Gain-
ACTL6A-
-
-
-
3Gain-
ACTN1p.Q832P
Missense
SNP
0.537
2--
ACTR1B-
-
-
-
1Loss-
ACTR3-
-
-
-
1Loss-
ACTR5-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACTRT3-
-
-
-
3Gain-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADA2-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM23-
-
-
-
1Loss-
ADAM28-
-
-
-
3Gain-
ADAM29-
-
-
-
1Loss-
ADAM32-
-
-
-
3Gain-
ADAM33p.H447Y
Missense
SNP
0.176
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS1-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS5p.A24V
Missense
SNP
0.657
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAP1-
-
-
-
5Amp-
ADARB2-
-
-
-
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY1-
-
-
-
5Amp-
ADCY4-
-
-
-
1Loss-
ADCY5-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
5Amp-
ADD1-
-
-
-
3Gain-
ADGRA2-
-
-
-
3Gain-
ADGRB1-
-
-
-
3Gain-
ADGRB2p.F1256L
Missense
SNP
0.491
2--
ADGRG7-
-
-
-
3Gain-
ADGRL3-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADM2-
-
-
-
1Loss-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPGKp.W61R
Missense
SNP
0.494
2--
ADPRH-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
3Gain-
ADRA1D-
-
-
-
3Gain-
ADRA2B-
-
-
-
1Loss-
ADRA2C-
-
-
-
3Gain-
ADRB3-
-
-
-
3Gain-
ADRM1-
-
-
-
3Gain-
ADSL-
-
-
-
1Loss-
ADSSL1p.N397D
Missense
SNP
0.429
2--
ADTRP-
-
-
-
3Gain-
AEBP1-
-
-
-
5Amp-
AFAP1-
-
-
-
3Gain-
AFF1-
-
-
-
1Loss-
AFF3-
-
-
-
1Loss-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGER-
-
-
-
3Gain-
AGFG1-
-
-
-
1Loss-
AGMO-
-
-
-
5Amp-
AGO2-
-
-
-
3Gain-
AGPAT1-
-
-
-
3Gain-
AGPS-
-
-
-
1Loss-
AGR2-
-
-
-
5Amp-
AGR3-
-
-
-
5Amp-
AGTR1-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AHCY-
-
-
-
3Gain-
AHR-
-
-
-
5Amp-
AHSG-
-
-
-
3Gain-
AIF1-
-
-
-
3Gain-
AIFM1p.P554S
p.P551L
Missense
Missense
SNP
SNP
0.498
0.506
NDND-
AIFM3-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
5Amp-
AJUBAp.Q103*
Nonsense
SNP
1.000
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP9p.D3555H
Missense
SNP
0.455
2--
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AL021997.3-
-
-
-
3Gain-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL024498.2-
-
-
-
3Gain-
AL031777.3-
-
-
-
3Gain-
AL031847.2-
-
-
-
2-VPS13B--AL031847.2
AL035460.1-
-
-
-
3Gain-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL096870.1-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL117339.5-
-
-
-
1Loss-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL132780.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL136531.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--AREG
AL157392.5-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512428.1-
-
-
-
3Gain-
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-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH5A1-
-
-
-
3Gain-
ALG12-
-
-
-
1Loss-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALKAL1-
-
-
-
3Gain-
ALKBH5-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
AMBN-
-
-
-
1Loss-
AMER3-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPH-
-
-
-
5Amp-
AMT-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
AMZ1-
-
-
-
5Amp-
ANAPC1-
-
-
-
1Loss-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANG-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT4-
-
-
-
3Gain-
ANK1-
-
-
-
3Gain-
ANK2-
-
-
-
1Loss-
ANK3p.R1176*
Nonsense
SNP
0.573
2--
ANKAR-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
5Amp-
ANKRD16-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD23-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD27-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD30BL-
-
-
-
1Loss-
ANKRD36-
-
-
-
1Loss-
ANKRD36B-
-
-
-
1Loss-
ANKRD36C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD39-
-
-
-
1Loss-
ANKRD44-
-
-
-
1Loss-
ANKRD46-
-
-
-
3Gain-
ANKRD50-
-
-
-
1Loss-
ANKRD54-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD61-
-
-
-
5Amp-
ANKS1A-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
5Amp-
ANO10-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANP32Bp.K239N
Missense
SNP
0.324
2--
ANTXR2-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
AOAH-
-
-
-
5Amp-
AOX1-
-
-
-
1Loss-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3M2-
-
-
-
3Gain-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
5Amp-
APBB1IP-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APMAP-
-
-
-
3Gain-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOM-
-
-
-
3Gain-
APP-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
AQP1-
-
-
-
5Amp-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
ARAP2-
-
-
-
3Gain-
ARC-
-
-
-
3Gain-
AREG-
-
-
-
1LossAL139099.4--AREG
ARF4-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFIP1-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARGFX-
-
-
-
3Gain-
ARHGAP10-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGEF12p.S300F
Missense
SNP
0.500
2--
ARHGEF26-
-
-
-
3Gain-
ARHGEF3-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF4-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARID1Ap.D1315H
Missense
SNP
0.459
2--
ARID5A-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL4A-
-
-
-
5Amp-
ARL4C-
-
-
-
1Loss-
ARL5A-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
3Gain-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
ASAH1-
-
-
-
3Gain-
ASAP1-
-
-
-
3Gain-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASH1Lp.L2757F
p.S755F
Missense
Missense
SNP
SNP
0.313
0.404
2--
ASH2L-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASNSp.E514Q
Missense
SNP
0.528
2--
ASNSD1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPHD2-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASTL-
-
-
-
1Loss-
ASXL1-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATAT1-
-
-
-
3Gain-
ATF2-
-
-
-
1Loss-
ATF4-
-
-
-
1Loss-
ATF6Bp.S316C
Missense
SNP
0.647
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG3p.D169H
Missense
SNP
0.784
3Gain-
ATG4B-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATMp.R1312K
p.Q1946*
p.G2772A
Missense
Nonsense
Missense
SNP
SNP
SNP
0.461
0.406
0.483
2--
ATOH1-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP5F1C-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5MC3-
-
-
-
1Loss-
ATP5ME-
-
-
-
3Gain-
ATP5MGL-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1G2-
-
-
-
3Gain-
ATP6V1G2-DDX39B-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN1-
-
-
-
3Gain-
ATXN10-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AVL9-
-
-
-
5Amp-
AVP-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT1-
-
-
-
1Loss-
B3GALT4-
-
-
-
3Gain-
B3GALT5-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT7-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAG4-
-
-
-
3Gain-
BAG6-
-
-
-
3Gain-
BAHCC1p.R1786C
Missense
SNP
1.000
2--
BAIAP2L2-
-
-
-
1Loss-
BAK1-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BANK1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BAZ2B-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS5-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
5Amp-
BBX-
-
-
-
3Gain-
BCAS1-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCL2-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L11-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCR-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDH2-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST2p.K169N
Missense
SNP
0.316
2--
BEST4p.P184L
Missense
SNP
0.446
2--
BFSP1-
-
-
-
3Gain-
BFSP2-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN1-
-
-
-
1Loss-
BIN3-
-
-
-
3Gain-
BIRC7-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLK-
-
-
-
3Gain-
BLOC1S4-
-
-
-
3Gain-
BLOC1S5-
-
-
-
6Amp-
BLOC1S5-TXNDC5-
-
-
-
6Amp-
BLVRA-
-
-
-
5Amp-
BMI1-
-
-
-
1Loss-
BMP1-
-
-
-
3Gain-
BMP2-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP6-
-
-
-
6Amp-
BMP7-
-
-
-
3Gain-
BMPER-
-
-
-
5Amp-
BMPR1B-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BNIP3L-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOD1L1-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BPHL-
-
-
-
1Loss-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
1Loss-
BRAT1-
-
-
-
5Amp-
BRD1-
-
-
-
1Loss-
BRD2-
-
-
-
3Gain-
BRF1-
-
-
-
3Gain-
BRF2-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BST1-
-
-
-
3Gain-
BTBD3-
-
-
-
3Gain-
BTBD6-
-
-
-
3Gain-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTG3-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BTNL2-
-
-
-
3Gain-
BUB1-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
BZW2-
-
-
-
5Amp-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C12orf56p.E142Q
Missense
SNP
0.107
2--
C14orf119-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C1GALT1-
-
-
-
5Amp-
C1orf68-
-
-
-
3Gain-
C1QL2-
-
-
-
1Loss-
C1QL3-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1QTNF7-
-
-
-
3Gain-
C1RLp.V42D
Missense
SNP
0.478
2--
C2-
-
-
-
3Gain-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
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-
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
3Gain-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
3Gain-
C4orf50-
-
-
-
3Gain-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf136-
-
-
-
3Gain-
C6orf15-
-
-
-
3Gain-
C6orf201-
-
-
-
1Loss-
C6orf47-
-
-
-
3Gain-
C6orf48-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf62-
-
-
-
3Gain-
C7orf25-
-
-
-
5Amp-
C7orf26-
-
-
-
5Amp-
C7orf31-
-
-
-
5Amp-
C7orf50-
-
-
-
5Amp-
C7orf57-
-
-
-
5Amp-
C7orf72p.S21L
Missense
SNP
0.731
NDND-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP7-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1Gp.P599L
Missense
SNP
0.989
2--
CACNA1I-
-
-
-
1Loss-
CACNA2D2p.A859P
Missense
SNP
0.511
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNB4-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CAGE1-
-
-
-
7Amp-
CALB1-
-
-
-
3Gain-
CALCRL-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2B-
-
-
-
5Amp-
CAMK2D-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKMTp.E222K
Missense
SNP
0.423
2--
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAP2-
-
-
-
3Gain-
CAPN10-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARD11-
-
-
-
5Amp-
CARF-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARMIL3-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASRp.E297K
Missense
SNP
0.158
3Gain-
CASS4-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPERGp.R730Q
Missense
SNP
0.339
2--
CAV3-
-
-
-
1Loss-
CAVIN2-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBLB-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD2-
-
-
-
1Loss-
CBX3-
-
-
-
5Amp-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D2A-
-
-
-
3Gain-
CCAR2-
-
-
-
3Gain-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC126-
-
-
-
5Amp-
CCDC13-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC138-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC141-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC150-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC173-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC25-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC66-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC74Ap.N50K
Missense
SNP
0.665
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC88Ap.E1751Q
Missense
SNP
0.507
2--
CCDC93-
-
-
-
1Loss-
CCDC96-
-
-
-
3Gain-
CCHCR1-
-
-
-
3Gain-
CCK-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCM2-
-
-
-
5Amp-
CCM2L-
-
-
-
3Gain-
CCNA2-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNT2-
-
-
-
1Loss-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCT6A-
-
-
-
5Amp-
CCT8-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CCZ1-
-
-
-
5Amp-
CCZ1B-
-
-
-
5Amp-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD302-
-
-
-
1Loss-
CD38-
-
-
-
3Gain-
CD40-
-
-
-
3Gain-
CD47-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD83-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD8B2-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDC123-
-
-
-
1Loss-
CDC14C-
-
-
-
5Amp-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC42EP1-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDCA2-
-
-
-
3Gain-
CDCA4-
-
-
-
3Gain-
CDCA7-
-
-
-
1Loss-
CDCA7L-
-
-
-
5Amp-
CDCP1-
-
-
-
1Loss-
CDH17-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
3Gain-
CDH23p.Q437E
Missense
SNP
0.446
2--
CDH24-
-
-
-
1Loss-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDK13-
-
-
-
5Amp-
CDK15-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDK8p.R323Q
Missense
SNP
0.473
2--
CDKAL1-
-
-
-
3Gain-
CDKL2-
-
-
-
1Loss-
CDKL3p.E570K
Missense
SNP
0.512
2--
CDKN2AIP-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDSN-
-
-
-
3Gain-
CDV3-
-
-
-
3Gain-
CDYL-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CEBPE-
-
-
-
1Loss-
CECR2-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CENPB-
-
-
-
3Gain-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPM-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP250p.W2268C
Missense
SNP
0.583
3Gain-
CEP44-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP72p.Q313H
Missense
SNP
0.524
2--
CEP97-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERKL-
-
-
-
1Loss-
CERS6-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP221-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP54p.S1143C
Missense
SNP
0.468
2--
CFAP61-
-
-
-
3Gain-
CFAP65-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
3Gain-
CFB-
-
-
-
3Gain-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFI-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD2-
-
-
-
5Amp-
CHCHD4-
-
-
-
1Loss-
CHCHD5-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP7-
-
-
-
3Gain-
CHN1-
-
-
-
1Loss-
CHN2-
-
-
-
5Amp-
CHODL-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRD-
-
-
-
3Gain-
CHRNA1-
-
-
-
1Loss-
CHRNA2-
-
-
-
3Gain-
CHRNA4-
-
-
-
3Gain-
CHRNA6-
-
-
-
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST10-
-
-
-
1Loss-
CHST12-
-
-
-
5Amp-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHTF18p.I744M
Missense
SNP
0.516
2--
CIAO1-
-
-
-
1Loss-
CIB1-
-
-
-
3Gain-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CIP2A-
-
-
-
3Gain-
CIR1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP2L-
-
-
-
1Loss-
CLASP1-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLASRPp.S411F
Missense
SNP
0.278
2--
CLBA1-
-
-
-
3Gain-
CLCN2-
-
-
-
3Gain-
CLCN3-
-
-
-
1Loss-
CLCN6p.E728K
Missense
SNP
0.991
2--
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN14-
-
-
-
1Loss-
CLDN16-
-
-
-
3Gain-
CLDN17-
-
-
-
1Loss-
CLDN18-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN5-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC3B-
-
-
-
1Loss-
CLGN-
-
-
-
1Loss-
CLIC1-
-
-
-
3Gain-
CLIC6-
-
-
-
1Loss-
CLK1-
-
-
-
1Loss-
CLNKp.I389M
Missense
SNP
0.451
3Gain-
CLOCK-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLRN2-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLVS1-
-
-
-
3Gain-
CMA1-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMSS1-
-
-
-
3Gain-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
3Gain-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA3-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNNM3p.E538D
p.E567Q
Missense
Missense
SNP
SNP
0.629
0.611
1Loss-
CNNM4-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT7-
-
-
-
3Gain-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP5-
-
-
-
1Loss-
COA1-
-
-
-
5Amp-
COA5-
-
-
-
1Loss-
COBL-
-
-
-
5Amp-
COBLL1-
-
-
-
1Loss-
COL11A2-
-
-
-
3Gain-
COL14A1-
-
-
-
3Gain-
COL20A1p.E898Q
Missense
SNP
0.372
3Gain-
COL22A1-
-
-
-
3Gain-
COL25A1-
-
-
-
1Loss-
COL28A1-
-
-
-
5Amp-
COL3A1-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL4A5p.S1047F
Missense
SNP
0.607
NDND-
COL5A2-
-
-
-
1Loss-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COMT-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COQ10B-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
5Amp-
COX4I2-
-
-
-
3Gain-
COX5B-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
3Gain-
CPLX1-
-
-
-
3Gain-
CPLX4-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE6-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPSF1-
-
-
-
3Gain-
CPT1B-
-
-
-
1Loss-
CPVL-
-
-
-
5Amp-
CPXM1-
-
-
-
3Gain-
CPZ-
-
-
-
3Gain-
CRBN-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB5-
-
-
-
5Amp-
CREG2-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CREM-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHR2-
-
-
-
5Amp-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLS1-
-
-
-
3Gain-
CRMP1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRXp.A207T
Missense
SNP
0.150
2--
CRYAA2-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CRYZL1-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF2RB-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
3Gain-
CSMD3-
-
-
-
3Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2B-
-
-
-
3Gain-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CSRNP3-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTA-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CSTL1-
-
-
-
3Gain-
CTBP1-
-
-
-
3Gain-
CTCFp.E635Q
p.K649N
Missense
Missense
SNP
SNP
0.510
0.517
2--
CTCFL-
-
-
-
3Gain-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTLA4-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
3Gain-
CTSG-
-
-
-
1Loss-
CTSO-
-
-
-
1Loss-
CTSWp.R62H
Missense
SNP
0.556
2--
CTSZ-
-
-
-
3Gain-
CTTNBP2p.D885H
Missense
SNP
0.455
2--
CUBN-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUTA-
-
-
-
3Gain-
CWC22-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYBRD1-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
5Amp-
CYHR1-
-
-
-
3Gain-
CYP11B1p.E329Q
Missense
SNP
0.434
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP20A1-
-
-
-
1Loss-
CYP21A2-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP27A1-
-
-
-
1Loss-
CYP27C1-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
5Amp-
CYP4V2-
-
-
-
1Loss-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYTH3-
-
-
-
5Amp-
CYTH4-
-
-
-
1Loss-
CYTIP-
-
-
-
1Loss-
CYTL1-
-
-
-
3Gain-
CYYR1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAB1p.V193I
Missense
SNP
0.481
2--
DAD1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
5Amp-
DALRD3-
-
-
-
1Loss-
DAPL1-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAXX-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBI-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
5Amp-
DBR1-
-
-
-
3Gain-
DCAF1-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF16-
-
-
-
3Gain-
DCAF17-
-
-
-
1Loss-
DCAF4L2-
-
-
-
3Gain-
DCBLD2-
-
-
-
3Gain-
DCDC2-
-
-
-
3Gain-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN6-
-
-
-
3Gain-
DCUN1D1-
-
-
-
3Gain-
DDAH2-
-
-
-
3Gain-
DDC-
-
-
-
5Amp-
DDHD2-
-
-
-
3Gain-
DDIT4L-
-
-
-
1Loss-
DDR1-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX18-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX39B-
-
-
-
3Gain-
DDX56-
-
-
-
5Amp-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEF6-
-
-
-
3Gain-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEK-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL3-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKB-
-
-
-
5Amp-
DGKD-
-
-
-
1Loss-
DGKG-
-
-
-
3Gain-
DGKQ-
-
-
-
3Gain-
DHFR2-
-
-
-
3Gain-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX30-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX36-
-
-
-
3Gain-
DIDO1-
-
-
-
3Gain-
DIP2A-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRC1-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3L2p.E821K
Missense
SNP
0.290
1Loss-
DKK2-
-
-
-
1Loss-
DKK4-
-
-
-
3Gain-
DLC1-
-
-
-
3Gain-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLGAP4-
-
-
-
3Gain-
DLX1-
-
-
-
1Loss-
DLX2-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMTN-
-
-
-
3Gain-
DNAAF5-
-
-
-
5Amp-
DNAH1-
-
-
-
1Loss-
DNAH11-
-
-
-
5Amp-
DNAH12-
-
-
-
1Loss-
DNAH7-
-
-
-
1Loss-
DNAH9p.K1949N
Missense
SNP
0.554
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC10-
-
-
-
1Loss-
DNAJC13p.E1628Q
Missense
SNP
0.773
3Gain-
DNAJC19-
-
-
-
3Gain-
DNAJC28-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAL4-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNM1p.S126L
Missense
SNP
0.556
NDND-
DNMT3B-
-
-
-
3Gain-
DNPEP-
-
-
-
1Loss-
DNTTIP1-
-
-
-
3Gain-
DNTTIP2p.E541K
Missense
SNP
0.394
2--
DOC2B-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
3Gain-
DOK2-
-
-
-
3Gain-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
3Gain-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPP10-
-
-
-
1Loss-
DPP4-
-
-
-
1Loss-
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPY19L1-
-
-
-
5Amp-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
3Gain-
DRC3-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRD5-
-
-
-
3Gain-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSCC1-
-
-
-
3Gain-
DSEL-
-
-
-
1Loss-
DSN1-
-
-
-
3Gain-
DSP-
-
-
-
7Amp-
DSPP-
-
-
-
1Loss-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTHD1-
-
-
-
3Gain-
DTNBP1-
-
-
-
3Gain-
DTX3Lp.E389K
Missense
SNP
0.200
3Gain-
DTYMK-
-
-
-
1Loss-
DUOX1p.E517Q
Missense
SNP
0.498
2--
DUSP15-
-
-
-
3Gain-
DUSP18-
-
-
-
1Loss-
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
1Loss-
DUSP22-
-
-
-
1Loss-
DUSP26-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP4-
-
-
-
3Gain-
DUSP7-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DXO-
-
-
-
3Gain-
DYNC1I2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1p.S3958*
Nonsense
SNP
0.532
2--
DYNLRB1-
-
-
-
3Gain-
DYRK1A-
-
-
-
1Loss-
DYTN-
-
-
-
1Loss-
DZANK1-
-
-
-
3Gain-
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F3-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
3Gain-
EBF4-
-
-
-
3Gain-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECEL1-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
EDAR-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDN1-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEF1E1-
-
-
-
6Amp-
EEF1E1-BLOC1S5-
-
-
-
6Amp-
EEFSEC-
-
-
-
3Gain-
EEPD1-
-
-
-
5Amp-
EFCAB1-
-
-
-
3Gain-
EFCAB12p.X280_splice
Splice_Site
SNP
0.782
3Gain-
EFCAB6-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFL8-
-
-
-
3Gain-
EGFR-
-
-
-
5Amp-
EGR3-
-
-
-
3Gain-
EHHADH-
-
-
-
3Gain-
EHMT2-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
5Amp-
EIF2AK3-
-
-
-
1Loss-
EIF2B5-
-
-
-
3Gain-
EIF2S2-
-
-
-
3Gain-
EIF3Ap.S1256C
Missense
SNP
0.506
2--
EIF3B-
-
-
-
5Amp-
EIF3D-
-
-
-
1Loss-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3L-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
3Gain-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF5p.X249_splice
Splice_Site
SNP
0.566
2--
EIF5A2-
-
-
-
3Gain-
EIF5B-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELF2-
-
-
-
1Loss-
ELFN1-
-
-
-
5Amp-
ELFN2-
-
-
-
1Loss-
ELMO1-
-
-
-
5Amp-
ELMO2-
-
-
-
3Gain-
ELMOD2-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOVL2-
-
-
-
3Gain-
ELOVL6-
-
-
-
1Loss-
ELP3-
-
-
-
3Gain-
ELP6-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EN1-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENPEP-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENPP6-
-
-
-
1Loss-
ENTHD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
3Gain-
ENTPD6-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300p.E616*
Nonsense
SNP
0.670
1Loss-
EPB41L1-
-
-
-
3Gain-
EPB41L5-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPDR1-
-
-
-
5Amp-
EPGN-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
ERBB4-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC3-
-
-
-
1Loss-
ERCC6L2p.L390F
Missense
SNP
0.474
2--
EREG-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERICH2-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERLIN2-
-
-
-
3Gain-
ERMN-
-
-
-
1Loss-
ERVFRD-1-
-
-
-
3Gain-
ESCO2-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESPNL-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ESS2-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETFDH-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETS2-
-
-
-
1Loss-
ETV1-
-
-
-
5Amp-
ETV5-
-
-
-
3Gain-
EVA1C-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
5Amp-
EVX2-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC2-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F13A1-
-
-
-
4Gain-
FABP1-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM107B-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM114A1-
-
-
-
3Gain-
FAM117B-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126A-
-
-
-
5Amp-
FAM126B-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM13A-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160B2-
-
-
-
3Gain-
FAM162A-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM168B-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM171B-
-
-
-
1Loss-
FAM178B-
-
-
-
1Loss-
FAM184Ap.E282Q
Missense
SNP
0.566
2--
FAM184B-
-
-
-
3Gain-
FAM193A-
-
-
-
3Gain-
FAM198A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM200B-
-
-
-
3Gain-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20C-
-
-
-
5Amp-
FAM210B-
-
-
-
3Gain-
FAM217A-
-
-
-
1Loss-
FAM217B-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM220A-
-
-
-
5Amp-
FAM221A-
-
-
-
5Amp-
FAM227A-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM50B-
-
-
-
1Loss-
FAM53A-
-
-
-
3Gain-
FAM57A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM8A1-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FASTKD5-
-
-
-
3Gain-
FAT1p.S3707*
p.Q283*
Nonsense
Nonsense
SNP
SNP
0.716
0.288
1Loss-
FAT4-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBLN7-
-
-
-
1Loss-
FBXL18p.I242M
Missense
SNP
0.242
5Amp-
FBXL2-
-
-
-
1Loss-
FBXL5-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO7-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FDCSP-
-
-
-
1Loss-
FDFT1-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FERp.I126M
Missense
SNP
0.517
2--
FER1L5-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERD3L-
-
-
-
5Amp-
FERMT1-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF17-
-
-
-
3Gain-
FGF2-
-
-
-
1Loss-
FGF20-
-
-
-
3Gain-
FGF5-
-
-
-
1Loss-
FGFBP1-
-
-
-
3Gain-
FGFBP2-
-
-
-
3Gain-
FGFR1-
-
-
-
3Gain-
FGFR3-
-
-
-
3Gain-
FGFRL1-
-
-
-
3Gain-
FGG-
-
-
-
1Loss-
FGL1-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL2-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FIGNL1-
-
-
-
5Amp-
FILIP1Lp.X202_splice
Splice_Site
SNP
0.773
3Gain-
FITM1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FKBP14-
-
-
-
5Amp-
FKBP1A-
-
-
-
3Gain-
FKBP7-
-
-
-
1Loss-
FKBP9-
-
-
-
5Amp-
FKBPL-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG2-
-
-
-
3Gain-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLOT1-
-
-
-
3Gain-
FLRT3-
-
-
-
3Gain-
FLT3p.T227M
Missense
SNP
0.439
2--
FMNL2-
-
-
-
1Loss-
FN1-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC3B-
-
-
-
3Gain-
FNIP2-
-
-
-
1Loss-
FNTA-
-
-
-
3Gain-
FO393400.1-
-
-
-
3Gain-
FOXA2-
-
-
-
3Gain-
FOXB2p.H90Q
Missense
SNP
0.482
2--
FOXC1-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXI3-
-
-
-
1Loss-
FOXK1-
-
-
-
5Amp-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1p.S527C
Missense
SNP
0.303
2--
FOXP1-
-
-
-
1Loss-
FOXQ1p.E147*
Nonsense
SNP
0.987
1Loss-
FOXRED2-
-
-
-
1Loss-
FOXS1-
-
-
-
3Gain-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRYLp.E2136Q
Missense
SNP
0.546
2--
FRZB-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCN1-
-
-
-
5Amp-
FSIP2-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FSTL5-
-
-
-
1Loss-
FTCDNL1-
-
-
-
1Loss-
FUT10-
-
-
-
3Gain-
FXR1-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD3-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
FZD7-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
G6PC2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABBR1-
-
-
-
3Gain-
GABPA-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GAD1-
-
-
-
1Loss-
GAD2-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
3Gain-
GAL3ST1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALMp.V127I
Missense
SNP
0.511
2--
GALNT13-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAR1-
-
-
-
1Loss-
GARS-
-
-
-
5Amp-
GART-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GATA3-
-
-
-
1Loss-
GATA4-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GC-
-
-
-
1Loss-
GCA-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCC2-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCK-
-
-
-
5Amp-
GCM2-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCNT7-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDAP2p.S403C
Missense
SNP
0.388
2--
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
1Loss-
GDPGP1-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GEMIN4-
-
-
-
1Loss-
GET4-
-
-
-
5Amp-
GFM1-
-
-
-
3Gain-
GFOD1-
-
-
-
3Gain-
GFRA2-
-
-
-
3Gain-
GFRA3p.E209K
Missense
SNP
0.474
2--
GFRA4-
-
-
-
3Gain-
GGA1-
-
-
-
1Loss-
GGCT-
-
-
-
5Amp-
GGH-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
1Loss-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
5Amp-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GIGYF2-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLCCI1-
-
-
-
5Amp-
GLI2-
-
-
-
1Loss-
GLI3-
-
-
-
5Amp-
GLI4-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLOD5p.E108Q
Missense
SNP
0.611
NDND-
GLP2R-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLS-
-
-
-
1Loss-
GLT8D1p.S368*
Nonsense
SNP
0.478
1Loss-
GLYCTK-
-
-
-
1Loss-
GMDS-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPR-
-
-
-
3Gain-
GMPR2-
-
-
-
1Loss-
GMPS-
-
-
-
3Gain-
GNA12-
-
-
-
5Amp-
GNAI2-
-
-
-
1Loss-
GNAS-
-
-
-
3Gain-
GNAT1-
-
-
-
1Loss-
GNAZ-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNL1-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNRH1-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNRHR-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA7-
-
-
-
3Gain-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GORASP2-
-
-
-
1Loss-
GOT1L1-
-
-
-
3Gain-
GOT2p.X235_splice
Splice_Site
SNP
0.500
3Gain-
GP1BB-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPANK1-
-
-
-
3Gain-
GPAT2-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPAT4-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPCPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPD2-
-
-
-
1Loss-
GPER1-
-
-
-
5Amp-
GPIHBP1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPM6A-
-
-
-
1Loss-
GPNMB-
-
-
-
5Amp-
GPR1-
-
-
-
1Loss-
GPR132-
-
-
-
3Gain-
GPR141-
-
-
-
5Amp-
GPR146-
-
-
-
5Amp-
GPR148-
-
-
-
1Loss-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR155-
-
-
-
1Loss-
GPR156-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR17-
-
-
-
1Loss-
GPR171-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR39-
-
-
-
1Loss-
GPR45-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR65p.R311M
Missense
SNP
0.509
2--
GPR78-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPRASP2p.E445Q
Missense
SNP
0.541
NDND-
GPRIN3-
-
-
-
1Loss-
GPSM3-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GRAMD1C-
-
-
-
3Gain-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
5Amp-
GRB14-
-
-
-
1Loss-
GRHL2-
-
-
-
3Gain-
GRIA2-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
5Amp-
GRIFIN-
-
-
-
5Amp-
GRIK1-
-
-
-
1Loss-
GRIK2p.N495K
Missense
SNP
0.307
2--
GRINA-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK4-
-
-
-
3Gain-
GRK7-
-
-
-
3Gain-
GRM2-
-
-
-
1Loss-
GRM4-
-
-
-
3Gain-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
3Gain-
GRSF1-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSDME-
-
-
-
5Amp-
GSG1L2-
-
-
-
1Loss-
GSK3Bp.L386V
Missense
SNP
0.167
3Gain-
GSR-
-
-
-
3Gain-
GSS-
-
-
-
3Gain-
GSTCD-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GTDC1-
-
-
-
1Loss-
GTF2E1-
-
-
-
3Gain-
GTF2E2-
-
-
-
3Gain-
GTF2H4-
-
-
-
3Gain-
GTF3C3-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GTSE1-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GULP1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPC-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GZF1-
-
-
-
3Gain-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFV-
-
-
-
5Amp-
H2AFZ-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAS2-
-
-
-
3Gain-
HASPIN-
-
-
-
1Loss-
HAT1-
-
-
-
1Loss-
HAUS3-
-
-
-
3Gain-
HAUS4-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCLS1-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC9-
-
-
-
5Amp-
HDGFL1-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HDLBP-
-
-
-
1Loss-
HECW1-
-
-
-
5Amp-
HECW2-
-
-
-
1Loss-
HEG1-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ2-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HEPHL1p.R953Q
Missense
SNP
0.487
2--
HERC2p.A3579T
Missense
SNP
0.447
2--
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD2-
-
-
-
5Amp-
HES1-
-
-
-
3Gain-
HES6-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HFE-
-
-
-
3Gain-
HGD-
-
-
-
3Gain-
HGFAC-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHLA1-
-
-
-
3Gain-
HHLA2-
-
-
-
3Gain-
HIBADH-
-
-
-
5Amp-
HIBCH-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HIGD1A-
-
-
-
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
0.348
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-
HIVEP1-
-
-
-
3Gain-
HJURPp.S521F
Missense
SNP
0.708
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-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMGA1-
-
-
-
3Gain-
HMGB2-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HMGXB4-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
3Gain-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNMT-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
5Amp-
HNRNPA3-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK3-
-
-
-
3Gain-
HOPX-
-
-
-
1Loss-
HORMAD2-
-
-
-
1Loss-
HOXA1-
-
-
-
5Amp-
HOXA10-
-
-
-
5Amp-
HOXA11-
-
-
-
5Amp-
HOXA13-
-
-
-
5Amp-
HOXA2-
-
-
-
5Amp-
HOXA3-
-
-
-
5Amp-
HOXA4-
-
-
-
5Amp-
HOXA5-
-
-
-
5Amp-
HOXA6-
-
-
-
5Amp-
HOXA7-
-
-
-
5Amp-
HOXA9-
-
-
-
5Amp-
HOXD1-
-
-
-
1Loss-
HOXD10-
-
-
-
1Loss-
HOXD11-
-
-
-
1Loss-
HOXD12-
-
-
-
1Loss-
HOXD13-
-
-
-
1Loss-
HOXD3-
-
-
-
1Loss-
HOXD4-
-
-
-
1Loss-
HOXD8-
-
-
-
1Loss-
HOXD9-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPS4-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HR-
-
-
-
3Gain-
HRASLS-
-
-
-
3Gain-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HS3ST1-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B8-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSPA12B-
-
-
-
3Gain-
HSPA13-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPA4L-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HSPG2p.E3306Q
Missense
SNP
0.996
2--
HTD2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTRA3-
-
-
-
3Gain-
HTRA4-
-
-
-
3Gain-
HTT-
-
-
-
3Gain-
HUNK-
-
-
-
1Loss-
HUS1-
-
-
-
5Amp-
HUS1B-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICA1-
-
-
-
5Amp-
ICA1L-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
ID1-
-
-
-
3Gain-
ID4-
-
-
-
3Gain-
IDH1-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IDUA-
-
-
-
3Gain-
IER3-
-
-
-
3Gain-
IFIH1-
-
-
-
1Loss-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT27-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74p.Q64E
Missense
SNP
0.310
2--
IFT80-
-
-
-
3Gain-
IGF2BP2-
-
-
-
3Gain-
IGF2BP3-
-
-
-
5Amp-
IGFBP1-
-
-
-
5Amp-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
5Amp-
IGFBP5-
-
-
-
1Loss-
IGFBP7-
-
-
-
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-
IKBKB-
-
-
-
3Gain-
IKZF1-
-
-
-
5Amp-
IKZF2-
-
-
-
1Loss-
IL10RB-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL12RB2p.S748*
Nonsense
SNP
0.149
2--
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL18R1-
-
-
-
1Loss-
IL18RAP-
-
-
-
1Loss-
IL1A-
-
-
-
1Loss-
IL1B-
-
-
-
1Loss-
IL1F10-
-
-
-
1Loss-
IL1R1-
-
-
-
1Loss-
IL1R2-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL1RL1-
-
-
-
1Loss-
IL1RL2-
-
-
-
1Loss-
IL1RN-
-
-
-
1Loss-
IL2-
-
-
-
1Loss-
IL20RB-
-
-
-
3Gain-
IL21-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL36A-
-
-
-
1Loss-
IL36B-
-
-
-
1Loss-
IL36G-
-
-
-
1Loss-
IL36RN-
-
-
-
1Loss-
IL37-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
5Amp-
IL7-
-
-
-
3Gain-
ILDR1-
-
-
-
3Gain-
ILKAP-
-
-
-
1Loss-
IMP4-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
ING2-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
5Amp-
INHBB-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
5Amp-
INMT-MINDY4-
-
-
-
5Amp-
INO80D-
-
-
-
1Loss-
INPP1-
-
-
-
1Loss-
INPP4A-
-
-
-
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INSIG2-
-
-
-
1Loss-
INSM1-
-
-
-
3Gain-
INSM2p.L499H
Missense
SNP
0.526
2--
INTS1-
-
-
-
5Amp-
INTS10-
-
-
-
3Gain-
INTS12-
-
-
-
1Loss-
INTS8-
-
-
-
3Gain-
INTS9p.E503K
Missense
SNP
0.395
3Gain-
INTU-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IP6K3-
-
-
-
3Gain-
IPO4-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCE-
-
-
-
5Amp-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP3p.D1127H
Missense
SNP
0.209
2--
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BP2p.E248K
Missense
SNP
0.531
2--
IRF4-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISPD-
-
-
-
5Amp-
ISX-
-
-
-
1Loss-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITGA4-
-
-
-
1Loss-
ITGA6-
-
-
-
1Loss-
ITGA8-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGAV-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB5-
-
-
-
3Gain-
ITGB6-
-
-
-
1Loss-
ITGB8-
-
-
-
5Amp-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPA-
-
-
-
3Gain-
ITPR1-
-
-
-
1Loss-
ITPR3-
-
-
-
3Gain-
ITPRID1-
-
-
-
5Amp-
ITPRID2-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
1Loss-
ITSN1-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IWS1-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAG2-
-
-
-
3Gain-
JAGN1-
-
-
-
1Loss-
JAKMIP1-
-
-
-
3Gain-
JAM2-
-
-
-
1Loss-
JARID2-
-
-
-
3Gain-
JAZF1-
-
-
-
5Amp-
JCAD-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JMJD8p.E61K
Missense
SNP
0.473
2--
JOSD1-
-
-
-
1Loss-
JPH1-
-
-
-
3Gain-
JPH2-
-
-
-
3Gain-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KALRNp.D273H
Missense
SNP
0.822
3Gain-
KANSL1L-
-
-
-
1Loss-
KANSL3-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT6A-
-
-
-
3Gain-
KBTBD12-
-
-
-
3Gain-
KBTBD2-
-
-
-
5Amp-
KBTBD8-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNH7-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP2p.E56D
Missense
SNP
0.435
2--
KCNIP3-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ3-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN4p.Q395H
Missense
SNP
0.665
2--
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT2p.S675F
Missense
SNP
0.276
2--
KCNU1-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCTD17-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD3p.L719F
Missense
SNP
0.399
2--
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
3Gain-
KDELC1p.L277V
Missense
SNP
0.466
2--
KDELC2p.P171L
Missense
SNP
0.434
2--
KDELR2-
-
-
-
5Amp-
KDELR3-
-
-
-
1Loss-
KDM1B-
-
-
-
3Gain-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KHDRBS3-
-
-
-
3Gain-
KHNYN-
-
-
-
1Loss-
KIAA0232-
-
-
-
3Gain-
KIAA0319-
-
-
-
3Gain-
KIAA0895-
-
-
-
5Amp-
KIAA0930p.R76S
Missense
SNP
0.130
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1211L-
-
-
-
1Loss-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIAA2012-
-
-
-
1Loss-
KIAA2026p.Q1128*
Nonsense
SNP
0.280
2--
KIF13A-
-
-
-
3Gain-
KIF13B-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF1A-
-
-
-
1Loss-
KIF24p.Q477*
Nonsense
SNP
0.444
2--
KIF3B-
-
-
-
3Gain-
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC1-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KIZ-
-
-
-
3Gain-
KLB-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF15-
-
-
-
3Gain-
KLF3-
-
-
-
3Gain-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHDC9p.R28T
Missense
SNP
0.508
2--
KLHL18-
-
-
-
1Loss-
KLHL2-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL23-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL30-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL41-
-
-
-
1Loss-
KLHL5-
-
-
-
3Gain-
KLHL6-
-
-
-
3Gain-
KLHL7-
-
-
-
5Amp-
KLHL8-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KMT2Cp.L4663V
Missense
SNP
0.500
2--
KNG1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRBOX1-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRT2p.F636L
Missense
SNP
0.198
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-
KY-
-
-
-
3Gain-
KYAT3p.M401I
Missense
SNP
0.382
2--
KYNU-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
1Loss-
LACTB2-
-
-
-
3Gain-
LAMA5-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMP5-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
5Amp-
LAP3-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1p.Q108H
Missense
SNP
0.988
2--
LBP-
-
-
-
3Gain-
LCA5L-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCORL-
-
-
-
3Gain-
LCT-
-
-
-
1Loss-
LDB2-
-
-
-
3Gain-
LEF1-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEMD2-
-
-
-
3Gain-
LEPROTL1-
-
-
-
3Gain-
LETM1-
-
-
-
3Gain-
LETM2-
-
-
-
3Gain-
LFNG-
-
-
-
5Amp-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI3-
-
-
-
3Gain-
LHFPL4-
-
-
-
1Loss-
LIAS-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LILRB4p.R421T
Missense
SNP
0.586
2--
LIMD1-
-
-
-
1Loss-
LIME1-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIMS1-
-
-
-
1Loss-
LIMS2-
-
-
-
1Loss-
LIMS3-
-
-
-
1Loss-
LIMS3-LOC440895-
-
-
-
1Loss-
LIMS4-
-
-
-
1Loss-
LIN54-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPI-
-
-
-
1Loss-
LIPT1-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLGL1p.E16K
Missense
SNP
0.167
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN2L-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMO1p.F114L
Missense
SNP
0.188
2--
LMOD3-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNPK-
-
-
-
1Loss-
LONRF1-
-
-
-
3Gain-
LONRF2-
-
-
-
1Loss-
LOXL2-
-
-
-
3Gain-
LPAR6p.Q327*
Nonsense
SNP
0.250
2--
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH3-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP12-
-
-
-
3Gain-
LRP1B-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRPAP1-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC7p.L53I
Missense
SNP
0.415
2--
LRRC72-
-
-
-
5Amp-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC9p.D1352H
Missense
SNP
0.236
2--
LRRCC1-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRRN4-
-
-
-
3Gain-
LRTM1-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM1-
-
-
-
3Gain-
LSM14B-
-
-
-
3Gain-
LSM2-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
5Amp-
LSM6-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LST1-
-
-
-
3Gain-
LTA-
-
-
-
3Gain-
LTB-
-
-
-
3Gain-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LUC7Lp.A164V
Missense
SNP
0.456
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-
-
-
-
7Amp-
LY96-
-
-
-
3Gain-
LYAR-
-
-
-
3Gain-
LYG1-
-
-
-
1Loss-
LYG2-
-
-
-
1Loss-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD1-
-
-
-
1Loss-
LYPD2-
-
-
-
3Gain-
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LYPLA1-
-
-
-
3Gain-
LYRM4-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
3Gain-
LZTS3-
-
-
-
3Gain-
M1APp.Q445*
Nonsense
SNP
0.124
2--
MAATS1-
-
-
-
3Gain-
MAB21L2-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
5Amp-
MACROD2-
-
-
-
3Gain-
MAD1L1-
-
-
-
5Amp-
MAD2L1-
-
-
-
1Loss-
MAEA-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAFK-
-
-
-
5Amp-
MAGEF1-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGOHBp.E22Q
Missense
SNP
0.490
2--
MAIP1-
-
-
-
1Loss-
MAK-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MAL-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MALL-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MALSU1-
-
-
-
5Amp-
MALT1-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAN2B2-
-
-
-
3Gain-
MANBA-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANF-
-
-
-
1Loss-
MAP1Bp.L746V
Missense
SNP
0.505
2--
MAP1LC3A-
-
-
-
3Gain-
MAP2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K19-
-
-
-
1Loss-
MAP3K2-
-
-
-
1Loss-
MAP3K20-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K4-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK7-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MARCH1-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH7-
-
-
-
1Loss-
MARCO-
-
-
-
1Loss-
MARSp.Q550*
Nonsense
SNP
0.415
2--
MARS2-
-
-
-
1Loss-
MAS1L-
-
-
-
3Gain-
MASP1-
-
-
-
3Gain-
MASTL-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAVS-
-
-
-
3Gain-
MAXp.Q134*
Nonsense
SNP
0.399
2--
MB-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD3L1-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBD5-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBOAT1-
-
-
-
3Gain-
MBOAT4-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCD1-
-
-
-
3Gain-
MCF2Lp.S220C
Missense
SNP
0.456
2--
MCF2L2-
-
-
-
3Gain-
MCHR1-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM4-
-
-
-
3Gain-
MCM5-
-
-
-
1Loss-
MCM6-
-
-
-
1Loss-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN1p.G556R
Missense
SNP
0.205
2--
MCTS2P-
-
-
-
3Gain-
MCUB-
-
-
-
1Loss-
MCUR1-
-
-
-
3Gain-
MDC1-
-
-
-
3Gain-
MDH1B-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME1p.E245Q
Missense
SNP
0.507
2--
MECOM-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
3Gain-
MED15-
-
-
-
1Loss-
MED28-
-
-
-
3Gain-
MED30-
-
-
-
3Gain-
MED9-
-
-
-
1Loss-
MEI1-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEOX2-
-
-
-
5Amp-
MEPE-
-
-
-
1Loss-
MERTK-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METAP1D-
-
-
-
1Loss-
METTL14-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
METTL5-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
METTL8-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFNG-
-
-
-
1Loss-
MFSD1-
-
-
-
3Gain-
MFSD10-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MFSD6-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MFSD9-
-
-
-
1Loss-
MGARP-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4A-
-
-
-
1Loss-
MGAT4D-
-
-
-
1Loss-
MGAT5-
-
-
-
1Loss-
MGLL-
-
-
-
3Gain-
MGME1-
-
-
-
3Gain-
MGST2-
-
-
-
1Loss-
MICA-
-
-
-
3Gain-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICALL2-
-
-
-
5Amp-
MICB-
-
-
-
3Gain-
MICU3-
-
-
-
3Gain-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
5Amp-
MINDY4B-
-
-
-
3Gain-
MIOS-
-
-
-
5Amp-
MIOX-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MITD1-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLN-
-
-
-
3Gain-
MLPH-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMADHC-
-
-
-
1Loss-
MMD2-
-
-
-
5Amp-
MME-
-
-
-
3Gain-
MMP11-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMP24-
-
-
-
3Gain-
MMP9-
-
-
-
3Gain-
MMRN1-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB4-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MOG-
-
-
-
3Gain-
MOGAT1-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORC2-
-
-
-
1Loss-
MORC3-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOV10L1-
-
-
-
1Loss-
MPIG6B-
-
-
-
3Gain-
MPLKIP-
-
-
-
5Amp-
MPP4-
-
-
-
1Loss-
MPP6-
-
-
-
5Amp-
MPP7-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRC1p.L1134V
Missense
SNP
0.478
1Loss-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
3Gain-
MRFAP1L1-
-
-
-
3Gain-
MRGBP-
-
-
-
3Gain-
MRM2-
-
-
-
5Amp-
MRM3-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL3-
-
-
-
3Gain-
MRPL30-
-
-
-
1Loss-
MRPL32-
-
-
-
5Amp-
MRPL39-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL52-
-
-
-
1Loss-
MRPS17-
-
-
-
5Amp-
MRPS18B-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS24-
-
-
-
5Amp-
MRPS25-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS5-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRPS9-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MSANTD1-
-
-
-
3Gain-
MSC-
-
-
-
3Gain-
MSH5-
-
-
-
3Gain-
MSH5-SAPCD1-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSMO1-
-
-
-
1Loss-
MSR1-
-
-
-
3Gain-
MSRB2-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTN-
-
-
-
1Loss-
MSX1-
-
-
-
3Gain-
MTA1-
-
-
-
3Gain-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTERF4-
-
-
-
1Loss-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTG2-
-
-
-
3Gain-
MTHFD2L-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTNR1A-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTSS1-
-
-
-
3Gain-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
5Amp-
MTUS1-
-
-
-
3Gain-
MTUS2p.G312S
Missense
SNP
0.536
2--
MTX2-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16p.P1564R
Missense
SNP
0.333
1Loss-
MUC17p.E202K
Missense
SNP
0.534
2--
MUC20-
-
-
-
3Gain-
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUC5Bp.N2148K
Missense
SNP
0.399
2--
MUC7-
-
-
-
1Loss-
MUCL3-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MXD4-
-
-
-
3Gain-
MYBBP1Ap.Q114H
Missense
SNP
0.995
1Loss-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH15-
-
-
-
3Gain-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL5-
-
-
-
3Gain-
MYL7-
-
-
-
5Amp-
MYL9-
-
-
-
3Gain-
MYLIP-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYLK4-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO1B-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1G-
-
-
-
5Amp-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
1Loss-
MYO7B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MZF1-
-
-
-
1Loss-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP2-
-
-
-
3Gain-
N6AMT1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA20-
-
-
-
3Gain-
NAA50-
-
-
-
3Gain-
NAA80-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NAB1-
-
-
-
1Loss-
NABP1-
-
-
-
1Loss-
NACAD-
-
-
-
5Amp-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAIF1p.Q318H
Missense
SNP
0.463
NDND-
NANP-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
3Gain-
NAT2-
-
-
-
3Gain-
NAT8L-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAV2p.A468T
Missense
SNP
0.457
2--
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
3Gain-
NBPF20-
-
-
-
4Gain-
NCALD-
-
-
-
3Gain-
NCAM2-
-
-
-
1Loss-
NCAPG-
-
-
-
3Gain-
NCAPH-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCK1-
-
-
-
3Gain-
NCK2-
-
-
-
1Loss-
NCKAP1-
-
-
-
1Loss-
NCKAP5-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
1Loss-
NCR3-
-
-
-
3Gain-
NDC80p.R576*
Nonsense
SNP
0.545
2--
NDNF-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
1Loss-
NDRG3-
-
-
-
3Gain-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA4-
-
-
-
5Amp-
NDUFA6-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NDUFC1-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NEB-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECAB3-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEDD9-
-
-
-
3Gain-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK4-
-
-
-
1Loss-
NELFA-
-
-
-
3Gain-
NELFCD-
-
-
-
3Gain-
NELFE-
-
-
-
3Gain-
NEMP2-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU1-
-
-
-
3Gain-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL3-
-
-
-
1Loss-
NEUROD1-
-
-
-
1Loss-
NEUROD6-
-
-
-
5Amp-
NEUROG2-
-
-
-
1Loss-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFATC3p.D308H
Missense
SNP
0.533
2--
NFATC4p.S397Y
Missense
SNP
1.000
1Loss-
NFE2L1p.Q293E
Missense
SNP
1.000
2--
NFE2L2-
-
-
-
1Loss-
NFE2L3-
-
-
-
5Amp-
NFICp.H23D
Missense
SNP
0.326
2--
NFKB1-
-
-
-
1Loss-
NFKBIL1-
-
-
-
3Gain-
NFKBIZ-
-
-
-
3Gain-
NFS1-
-
-
-
3Gain-
NGDN-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHEJ1-
-
-
-
1Loss-
NHLRC1-
-
-
-
3Gain-
NICN1-
-
-
-
1Loss-
NIF3L1-
-
-
-
1Loss-
NIFK-
-
-
-
1Loss-
NINp.R107L
Missense
SNP
0.533
2--
NINL-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
5Amp-
NISCH-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPL-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-1-
-
-
-
3Gain-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
3Gain-
NKX3-1-
-
-
-
3Gain-
NKX3-2-
-
-
-
3Gain-
NKX6-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
3Gain-
NLGN1-
-
-
-
3Gain-
NMD3-
-
-
-
3Gain-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
5Amp-
NME9-
-
-
-
3Gain-
NMI-
-
-
-
1Loss-
NMNAT3-
-
-
-
3Gain-
NMS-
-
-
-
1Loss-
NMT2-
-
-
-
1Loss-
NMU-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NOA1-
-
-
-
1Loss-
NOBOXp.G331R
Missense
SNP
0.497
2--
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
5Amp-
NOL10p.K648N
Missense
SNP
0.556
2--
NOL12-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL7-
-
-
-
3Gain-
NOP14-
-
-
-
3Gain-
NOP56-
-
-
-
3Gain-
NOP58p.D170H
Missense
SNP
0.536
1Loss-
NOP9-
-
-
-
1Loss-
NOSTRIN-
-
-
-
1Loss-
NOTCH1p.R2004P
Missense
SNP
0.502
2--
NOTCH4-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
NPAS2-
-
-
-
1Loss-
NPBWR1-
-
-
-
3Gain-
NPBWR2-
-
-
-
3Gain-
NPC1L1-
-
-
-
5Amp-
NPEPL1-
-
-
-
3Gain-
NPFFR2-
-
-
-
1Loss-
NPHP1-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPM2-
-
-
-
3Gain-
NPNT-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR2p.E415K
Missense
SNP
0.984
2--
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
5Amp-
NPTXR-
-
-
-
1Loss-
NPVF-
-
-
-
5Amp-
NPY-
-
-
-
5Amp-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NQO2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NRBP2-
-
-
-
3Gain-
NRG1-
-
-
-
3Gain-
NRIP1-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRM-
-
-
-
3Gain-
NRN1-
-
-
-
4Gain-
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRSN1-
-
-
-
3Gain-
NRSN2-
-
-
-
3Gain-
NSD2-
-
-
-
3Gain-
NSD3-
-
-
-
3Gain-
NSFL1C-
-
-
-
3Gain-
NSG1-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5C3A-
-
-
-
5Amp-
NT5DC2-
-
-
-
1Loss-
NT5DC4-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUBP1p.T176M
Missense
SNP
0.502
2--
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
5Amp-
NUDT1-
-
-
-
5Amp-
NUDT14-
-
-
-
3Gain-
NUDT16-
-
-
-
3Gain-
NUDT18-
-
-
-
3Gain-
NUDT19-
-
-
-
1Loss-
NUDT3-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUGGC-
-
-
-
3Gain-
NUP153-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP35-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUPL2-
-
-
-
5Amp-
NUPR2-
-
-
-
5Amp-
NVLp.D753H
Missense
SNP
0.311
2--
NWD2-
-
-
-
3Gain-
NXN-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPH1-
-
-
-
5Amp-
NXPH2-
-
-
-
1Loss-
NXT1-
-
-
-
3Gain-
NYAP2-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCM-
-
-
-
5Amp-
OCSTAMP-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF1-
-
-
-
3Gain-
ODF3B-
-
-
-
1Loss-
OGDH-
-
-
-
5Amp-
OGFR-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OLA1-
-
-
-
1Loss-
OLAH-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPCMLp.V105L
Missense
SNP
0.463
2--
OPLAH-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OPRPN-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10C1-
-
-
-
3Gain-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR11A1-
-
-
-
3Gain-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR12D2-
-
-
-
3Gain-
OR12D3-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2H1-
-
-
-
3Gain-
OR2H2-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2W1p.F73L
Missense
SNP
0.140
3Gain-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
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-
OR9I1p.D52H
Missense
SNP
0.508
2--
ORC2-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORMDL1-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
5Amp-
OSBPL6-
-
-
-
1Loss-
OSER1-
-
-
-
3Gain-
OSGEP-
-
-
-
1Loss-
OSGEPL1-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSR2-
-
-
-
3Gain-
OSTC-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOL1-
-
-
-
3Gain-
OTOP1-
-
-
-
3Gain-
OTOR-
-
-
-
3Gain-
OTOS-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXA1L-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
3Gain-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPC4L-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PACS2-
-
-
-
3Gain-
PACSIN1-
-
-
-
3Gain-
PACSIN2-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAICS-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PAK5-
-
-
-
3Gain-
PALLD-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANX2-
-
-
-
1Loss-
PAPOLB-
-
-
-
5Amp-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR9-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARP10-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX1-
-
-
-
3Gain-
PAX3-
-
-
-
1Loss-
PAX8-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PBK-
-
-
-
3Gain-
PBRM1-
-
-
-
1Loss-
PBX2-
-
-
-
3Gain-
PBXIP1p.R435K
Missense
SNP
0.523
2--
PCBP4-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH10-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
1Loss-
PCDH9-
-
-
-
3Gain-
PCDHGA3p.L77V
Missense
SNP
0.487
2--
PCED1A-
-
-
-
3Gain-
PCGF3-
-
-
-
3Gain-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
3Gain-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNP-
-
-
-
3Gain-
PCNT-
-
-
-
1Loss-
PCOLCE2-
-
-
-
3Gain-
PCP4-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD10-
-
-
-
3Gain-
PDCD5-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCL2-
-
-
-
1Loss-
PDCL3-
-
-
-
1Loss-
PDE11A-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE1A-
-
-
-
1Loss-
PDE1C-
-
-
-
5Amp-
PDE3Ap.E1053K
Missense
SNP
0.442
2--
PDE5A-
-
-
-
1Loss-
PDE6B-
-
-
-
3Gain-
PDE6D-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDGFA-
-
-
-
5Amp-
PDGFB-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDGFRL-
-
-
-
3Gain-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDK1-
-
-
-
1Loss-
PDLIM2-
-
-
-
3Gain-
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDRG1-
-
-
-
3Gain-
PDS5A-
-
-
-
3Gain-
PDSS1-
-
-
-
1Loss-
PDXP-
-
-
-
1Loss-
PDYN-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEBP4-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PER2-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX26-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFDN6-
-
-
-
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PGAM2-
-
-
-
5Amp-
PGAP1-
-
-
-
1Loss-
PGBD1-
-
-
-
3Gain-
PGM2-
-
-
-
3Gain-
PGM3p.L348F
Missense
SNP
0.382
2--
PGRMC2-
-
-
-
1Loss-
PHACTR1-
-
-
-
3Gain-
PHACTR3-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHETA2-
-
-
-
1Loss-
PHF1-
-
-
-
3Gain-
PHF14-
-
-
-
5Amp-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21B-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHKG1-
-
-
-
5Amp-
PHLDA1p.Q344*
p.W272C
Nonsense
Missense
SNP
SNP
0.481
0.470
2--
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PHYHIP-
-
-
-
3Gain-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PI4KA-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIGG-
-
-
-
3Gain-
PIGHp.R35G
Missense
SNP
0.589
2--
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIGRp.E402Q
Missense
SNP
0.529
2--
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1p.R574T
Missense
SNP
0.491
2--
PIK3R4-
-
-
-
3Gain-
PIKFYVE-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PINX1-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL2-
-
-
-
3Gain-
PIWIL3-
-
-
-
1Loss-
PJVK-
-
-
-
1Loss-
PKD1L1-
-
-
-
5Amp-
PKD2-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKP4-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G12A-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLA2R1-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
3Gain-
PLCB1-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCD4-
-
-
-
1Loss-
PLCG1-
-
-
-
3Gain-
PLCH1-
-
-
-
3Gain-
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEKHA2-
-
-
-
3Gain-
PLEKHA3-
-
-
-
1Loss-
PLEKHA8-
-
-
-
5Amp-
PLEKHB2-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHH1p.M116I
Missense
SNP
0.411
2--
PLEKHM3-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLLPp.I109M
Missense
SNP
0.635
2--
PLOD2-
-
-
-
3Gain-
PLPBP-
-
-
-
3Gain-
PLPP5-
-
-
-
3Gain-
PLRG1-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLTP-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PLXND1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PMM1-
-
-
-
1Loss-
PMP2-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMS1-
-
-
-
1Loss-
PMS2-
-
-
-
5Amp-
PNKD-
-
-
-
1Loss-
PNMA2-
-
-
-
3Gain-
PNOC-
-
-
-
3Gain-
PNP-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POFUT1-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLB-
-
-
-
3Gain-
POLD2-
-
-
-
5Amp-
POLDIP3-
-
-
-
1Loss-
POLM-
-
-
-
5Amp-
POLN-
-
-
-
3Gain-
POLQ-
-
-
-
3Gain-
POLR1B-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2D-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3F-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POM121L12-
-
-
-
5Amp-
POM121L2-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP4-
-
-
-
1Loss-
POPDC2-
-
-
-
3Gain-
POTED-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU3F3-
-
-
-
1Loss-
POU4F2-
-
-
-
1Loss-
POU5F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU6F2-
-
-
-
5Amp-
PP2D1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPIA-
-
-
-
5Amp-
PPID-
-
-
-
1Loss-
PPIG-
-
-
-
1Loss-
PPIL1p.E146K
Missense
SNP
0.565
2--
PPIL2-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPLp.E1400Q
Missense
SNP
0.542
2--
PPM1F-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPP1R10-
-
-
-
3Gain-
PPP1R11-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
5Amp-
PPP1R18-
-
-
-
3Gain-
PPP1R1C-
-
-
-
1Loss-
PPP1R2-
-
-
-
3Gain-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
1Loss-
PPP1R3G-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP2CB-
-
-
-
3Gain-
PPP2R2A-
-
-
-
3Gain-
PPP2R2Cp.E267Q
Missense
SNP
0.478
3Gain-
PPP2R3A-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP3CC-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PQLC2L-
-
-
-
3Gain-
PRAM1p.E220K
Missense
SNP
0.624
2--
PRAME-
-
-
-
1Loss-
PRC1p.S373*
Nonsense
SNP
0.504
2--
PRDM14-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR1B-
-
-
-
5Amp-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCHp.Q424H
Missense
SNP
0.196
2--
PRKCI-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKDC-
-
-
-
3Gain-
PRKG2-
-
-
-
1Loss-
PRKRA-
-
-
-
1Loss-
PRL-
-
-
-
3Gain-
PRLH-
-
-
-
1Loss-
PRMT2-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROC-
-
-
-
1Loss-
PROCR-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROM1-
-
-
-
3Gain-
PROM2-
-
-
-
1Loss-
PROS1-
-
-
-
3Gain-
PROSER2-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF40A-
-
-
-
1Loss-
PRPF4B-
-
-
-
1Loss-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPS1L1-
-
-
-
5Amp-
PRPSAP2-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
5Amp-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR3-
-
-
-
3Gain-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRRC2A-
-
-
-
3Gain-
PRRT1-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS16-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PSAPL1-
-
-
-
3Gain-
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
3Gain-
PSD4-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
5Amp-
PSMA7-
-
-
-
3Gain-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMD1-
-
-
-
1Loss-
PSMD14-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD9p.A75S
Missense
SNP
0.477
2--
PSME1-
-
-
-
1Loss-
PSME2p.S221R
Missense
SNP
1.000
1Loss-
PSMF1-
-
-
-
3Gain-
PSMG1-
-
-
-
1Loss-
PSMG3-
-
-
-
5Amp-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
3Gain-
PSORS1C2-
-
-
-
3Gain-
PSPH-
-
-
-
5Amp-
PTCHD3-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN18-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN4-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRCp.P562L
Missense
SNP
0.463
2--
PTPRDp.S569L
Missense
SNP
0.298
2--
PTPRG-
-
-
-
1Loss-
PTPRHp.Q237*
Nonsense
SNP
0.301
2--
PTPRN-
-
-
-
1Loss-
PTPRRp.L235V
Missense
SNP
0.556
2--
PTPRT-
-
-
-
3Gain-
PTTG2-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PURB-
-
-
-
5Amp-
PURG-
-
-
-
3Gain-
PVALB-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXDNp.I1356T
Missense
SNP
0.547
2--
PXDNL-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PXYLP1-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGB-
-
-
-
3Gain-
PYROXD2p.G517E
Missense
SNP
0.419
2--
PYURF-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
3Gain-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HCC1-
-
-
-
3Gain-
R3HDM1-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB11FIP1p.K295N
Missense
SNP
0.606
3Gain-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB28-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB2B-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB38p.R71K
Missense
SNP
0.144
2--
RAB3GAP1-
-
-
-
1Loss-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5IF-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RAB7A-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABL2A-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RAC1-
-
-
-
5Amp-
RAC2-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD21L1-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RADIL-
-
-
-
5Amp-
RAE1-
-
-
-
3Gain-
RAF1p.R298T
Missense
SNP
0.454
1Loss-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
5Amp-
RALB-
-
-
-
1Loss-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALGPS1p.E108Q
Missense
SNP
0.483
NDND-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
5Amp-
RANBP1-
-
-
-
1Loss-
RANBP2-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF2-
-
-
-
1Loss-
RAPGEF4-
-
-
-
1Loss-
RAPGEF5-
-
-
-
5Amp-
RAPH1-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RASA2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF6-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
5Amp-
RBAK-RBAKDN-
-
-
-
5Amp-
RBBP5p.Q183*
Nonsense
SNP
0.536
2--
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBL1-
-
-
-
3Gain-
RBM11-
-
-
-
1Loss-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM24-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM43-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM45-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS1p.Q228H
Missense
SNP
0.750
1Loss-
RBMS3-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RCAN1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
REC8-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
REELD1-
-
-
-
1Loss-
REEP4-
-
-
-
3Gain-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
3Gain-
REM1-
-
-
-
3Gain-
REM2-
-
-
-
1Loss-
RENBPp.D309N
Missense
SNP
0.493
NDND-
RESP18-
-
-
-
1Loss-
REST-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REV1-
-
-
-
1Loss-
RFC1-
-
-
-
3Gain-
RFC4-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFX8-
-
-
-
1Loss-
RGL2-
-
-
-
3Gain-
RGL4-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGPD3-
-
-
-
1Loss-
RGPD4-
-
-
-
1Loss-
RGPD5-
-
-
-
1Loss-
RGPD6-
-
-
-
1Loss-
RGPD8-
-
-
-
1Loss-
RGS1p.Q96L
Missense
SNP
0.554
2--
RGS12-
-
-
-
3Gain-
RGS19-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS9BP-
-
-
-
1Loss-
RHBDD1-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHBGp.E373Q
Missense
SNP
0.556
2--
RHO-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RIF1-
-
-
-
1Loss-
RILP-
-
-
-
1Loss-
RIMS2-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RING1-
-
-
-
3Gain-
RIOK1-
-
-
-
7Amp-
RIOX2-
-
-
-
3Gain-
RIPK1-
-
-
-
1Loss-
RIPK2-
-
-
-
3Gain-
RIPK3-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIPPLY3-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF122-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF144B-
-
-
-
3Gain-
RNF149-
-
-
-
1Loss-
RNF150-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF170-
-
-
-
3Gain-
RNF175-
-
-
-
1Loss-
RNF182-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF212-
-
-
-
3Gain-
RNF212B-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF216-
-
-
-
5Amp-
RNF225-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF25-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF39-
-
-
-
3Gain-
RNF4-
-
-
-
3Gain-
RNF5-
-
-
-
3Gain-
RNF7-
-
-
-
3Gain-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROMO1-
-
-
-
3Gain-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
RP1-
-
-
-
3Gain-
RP1-130H16.18p.Q356E
Missense
SNP
0.345
NDND-
RP9-
-
-
-
5Amp-
RPA1-
-
-
-
1Loss-
RPA3-
-
-
-
5Amp-
RPE-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL31-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL39L-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPL9-
-
-
-
3Gain-
RPN1-
-
-
-
3Gain-
RPN2-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP21-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPP40-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPRM-
-
-
-
1Loss-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS18-
-
-
-
3Gain-
RPS19BP1-
-
-
-
1Loss-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RREB1-
-
-
-
7Amp-
RRH-
-
-
-
1Loss-
RRM2B-
-
-
-
3Gain-
RRP7A-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSPH10B-
-
-
-
5Amp-
RSPH10B2-
-
-
-
5Amp-
RSPH14-
-
-
-
1Loss-
RSPO2-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSRC1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUFY3-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUNX1T1-
-
-
-
3Gain-
RUVBL1-
-
-
-
3Gain-
RWDD2B-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXRB-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR1p.E689*
Nonsense
SNP
0.301
2--
S100B-
-
-
-
1Loss-
S100P-
-
-
-
3Gain-
SACM1L-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD12-
-
-
-
3Gain-
SAMD7-
-
-
-
3Gain-
SAMHD1-
-
-
-
3Gain-
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP130-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAPCD1-
-
-
-
3Gain-
SARAF-
-
-
-
3Gain-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SCAF4-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCHIP1-
-
-
-
3Gain-
SCIN-
-
-
-
5Amp-
SCLT1-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1A-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCN7A-
-
-
-
1Loss-
SCN9A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCRG1-
-
-
-
1Loss-
SCRIB-
-
-
-
3Gain-
SCRN1-
-
-
-
5Amp-
SCRN3-
-
-
-
1Loss-
SCRT1-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCTR-
-
-
-
1Loss-
SCUBE1-
-
-
-
1Loss-
SCUBE3-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC2-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDCBP2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDK1-
-
-
-
5Amp-
SDR16C5-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC16Ap.Y1243C
Missense
SNP
0.440
2--
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC23B-
-
-
-
3Gain-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
5Amp-
SEC62-
-
-
-
3Gain-
SEL1L2-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOT-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4B-
-
-
-
3Gain-
SEMA4C-
-
-
-
1Loss-
SEMA5B-
-
-
-
3Gain-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SEPHS1-
-
-
-
1Loss-
SEPT10-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
5Amp-
SEPT2-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
5Amp-
SERHL2-
-
-
-
1Loss-
SERINC3-
-
-
-
3Gain-
SERP1-
-
-
-
3Gain-
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-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SESTD1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B1-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFRP1-
-
-
-
3Gain-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
5Amp-
SFT2D3-
-
-
-
1Loss-
SFTA2-
-
-
-
3Gain-
SFTPC-
-
-
-
3Gain-
SFXN1p.R48K
Missense
SNP
0.594
2--
SGCZ-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SH2D4A-
-
-
-
3Gain-
SH3BGR-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP2-
-
-
-
3Gain-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF3-
-
-
-
1Loss-
SH3TC1-
-
-
-
3Gain-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHMT1-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SIDT1-
-
-
-
3Gain-
SIGLEC1-
-
-
-
3Gain-
SIK1B-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT5-
-
-
-
3Gain-
SKAP2-
-
-
-
5Amp-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKIV2L-
-
-
-
3Gain-
SKIV2L2p.M985I
Missense
SNP
0.509
NDND-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLBP-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC15A2-
-
-
-
3Gain-
SLC16A14-
-
-
-
1Loss-
SLC16A5p.I178M
Missense
SNP
0.997
2--
SLC16A8-
-
-
-
1Loss-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC20A1-
-
-
-
1Loss-
SLC20A2p.S578L
Missense
SNP
0.596
3Gain-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A23-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC23A3-
-
-
-
1Loss-
SLC24A3-
-
-
-
3Gain-
SLC25A1-
-
-
-
1Loss-
SLC25A12-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A32-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A37-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC26A1-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC29A4-
-
-
-
5Amp-
SLC2A10-
-
-
-
3Gain-
SLC2A11-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC2A4RG-
-
-
-
3Gain-
SLC2A9-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC33A1-
-
-
-
3Gain-
SLC35A5-
-
-
-
3Gain-
SLC35B3-
-
-
-
6Amp-
SLC35C2-
-
-
-
3Gain-
SLC35E4-
-
-
-
1Loss-
SLC35F5-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC35G5-
-
-
-
3Gain-
SLC36A2p.G280D
Missense
SNP
0.449
2--
SLC38A11-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC39A10-
-
-
-
1Loss-
SLC39A12-
-
-
-
1Loss-
SLC39A14-
-
-
-
3Gain-
SLC39A2-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A7-
-
-
-
3Gain-
SLC39A8-
-
-
-
1Loss-
SLC40A1-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC44A4-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
3Gain-
SLC4A10-
-
-
-
1Loss-
SLC4A11-
-
-
-
3Gain-
SLC4A3-
-
-
-
1Loss-
SLC4A4-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A7-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC7A11-
-
-
-
1Loss-
SLC7A13-
-
-
-
3Gain-
SLC7A14-
-
-
-
3Gain-
SLC7A2-
-
-
-
3Gain-
SLC7A4-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC7A9-
-
-
-
1Loss-
SLC9A2-
-
-
-
1Loss-
SLC9A4-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLIT2-
-
-
-
3Gain-
SLITRK1-
-
-
-
3Gain-
SLITRK3-
-
-
-
3Gain-
SLITRK5p.S20I
Missense
SNP
0.516
3Gain-
SLITRK6-
-
-
-
3Gain-
SLMAP-
-
-
-
1Loss-
SLPI-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4IP-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMARCA5-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMC4-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM13-
-
-
-
3Gain-
SMIM14-
-
-
-
3Gain-
SMIM17-
-
-
-
1Loss-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
3Gain-
SMIM21-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM29-
-
-
-
3Gain-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMPD4-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMYD1-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNCA-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNIP1p.R14*
Nonsense
SNP
0.458
2--
SNORC-
-
-
-
1Loss-
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP200-
-
-
-
1Loss-
SNRNP48-
-
-
-
6Amp-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPC-
-
-
-
3Gain-
SNRPD3-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNTN-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNX10-
-
-
-
5Amp-
SNX13-
-
-
-
5Amp-
SNX16-
-
-
-
3Gain-
SNX21-
-
-
-
3Gain-
SNX25-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SNX4-
-
-
-
3Gain-
SNX5-
-
-
-
3Gain-
SNX8-
-
-
-
5Amp-
SOCS6-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SONp.K122N
Missense
SNP
0.471
1Loss-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
3Gain-
SORCS2-
-
-
-
3Gain-
SOSTDC1-
-
-
-
5Amp-
SOWAHB-
-
-
-
1Loss-
SOWAHC-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX17-
-
-
-
3Gain-
SOX18p.R102W
Missense
SNP
0.140
3Gain-
SOX2p.E93K
Missense
SNP
0.148
3Gain-
SOX4-
-
-
-
3Gain-
SOX7-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP3-
-
-
-
1Loss-
SP4-
-
-
-
5Amp-
SP5-
-
-
-
1Loss-
SP8-
-
-
-
5Amp-
SP9-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG16-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA2-
-
-
-
3Gain-
SPATA22-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA3-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
5Amp-
SPATA5-
-
-
-
1Loss-
SPATC1-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPC25-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDEF-
-
-
-
3Gain-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEF1-
-
-
-
3Gain-
SPEG-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPINK2-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPNp.L7V
p.T164I
Missense
Missense
SNP
SNP
0.433
0.503
2--
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCK1p.L39V
Missense
SNP
0.457
2--
SPOCK3-
-
-
-
1Loss-
SPON2-
-
-
-
3Gain-
SPOPL-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPRY1-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTLC3-
-
-
-
3Gain-
SPTSSB-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRC-
-
-
-
3Gain-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRXN1-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSB-
-
-
-
1Loss-
SSH2p.Q517H
Missense
SNP
0.871
2--
SSR1-
-
-
-
7Amp-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSTR3-
-
-
-
1Loss-
SSTR4-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAG2p.H73Y
Missense
SNP
0.201
NDND-
STAM-
-
-
-
1Loss-
STAM2-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STAR-
-
-
-
3Gain-
STARD3NL-
-
-
-
5Amp-
STARD7-
-
-
-
1Loss-
STAT1-
-
-
-
1Loss-
STAT4-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STBD1-
-
-
-
1Loss-
STC1-
-
-
-
3Gain-
STEAP1B-
-
-
-
5Amp-
STEAP3-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
5Amp-
STK17B-
-
-
-
1Loss-
STK19-
-
-
-
3Gain-
STK25-
-
-
-
1Loss-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
5Amp-
STK35-
-
-
-
3Gain-
STK36-
-
-
-
1Loss-
STK39-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
3Gain-
STMND1-
-
-
-
3Gain-
STOX2-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STRADB-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX18-
-
-
-
3Gain-
STX19-
-
-
-
3Gain-
STXBP5L-
-
-
-
3Gain-
STXBP6-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUGCT-
-
-
-
5Amp-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SULT1B1-
-
-
-
1Loss-
SULT1C2-
-
-
-
1Loss-
SULT1C3-
-
-
-
1Loss-
SULT1C4-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
5Amp-
SUMO1-
-
-
-
1Loss-
SUN1-
-
-
-
5Amp-
SUN2-
-
-
-
1Loss-
SUN3-
-
-
-
5Amp-
SUN5-
-
-
-
3Gain-
SUPT16H-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SVIL-
-
-
-
1Loss-
SYBU-
-
-
-
3Gain-
SYCE3-
-
-
-
1Loss-
SYCP1p.E358Q
Missense
SNP
0.406
2--
SYCP2p.E1045D
Missense
SNP
0.256
3Gain-
SYCP2L-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNGAP1-
-
-
-
3Gain-
SYNGR1-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
TAB1-
-
-
-
1Loss-
TAB2p.Q658E
Missense
SNP
0.548
2--
TACC1-
-
-
-
3Gain-
TACC3-
-
-
-
3Gain-
TACR3-
-
-
-
1Loss-
TADA2B-
-
-
-
3Gain-
TADA3-
-
-
-
1Loss-
TAF11-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAF4-
-
-
-
3Gain-
TAGLN3-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TANK-
-
-
-
1Loss-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TAPT1-
-
-
-
3Gain-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
5Amp-
TAX1BP3-
-
-
-
1Loss-
TBC1D1-
-
-
-
3Gain-
TBC1D10A-
-
-
-
1Loss-
TBC1D14-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D22A-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D31-
-
-
-
3Gain-
TBC1D5-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBC1D8-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCK-
-
-
-
1Loss-
TBL1XR1-
-
-
-
3Gain-
TBR1-
-
-
-
1Loss-
TBRG4-
-
-
-
5Amp-
TBX1-
-
-
-
1Loss-
TBX20-
-
-
-
5Amp-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCEA2-
-
-
-
3Gain-
TCF15-
-
-
-
3Gain-
TCF19-
-
-
-
3Gain-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCFL5-
-
-
-
3Gain-
TCIM-
-
-
-
3Gain-
TCN2-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP11-
-
-
-
3Gain-
TCTA-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TDGF1-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDP2-
-
-
-
3Gain-
TDRD12-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TEDC1-
-
-
-
3Gain-
TEF-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEKT4-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENM4p.F1992L
p.D748N
Missense
Missense
SNP
SNP
0.457
0.442
2--
TEP1-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TESMINp.S393C
Missense
SNP
0.543
2--
TET2-
-
-
-
1Loss-
TEX15-
-
-
-
3Gain-
TEX22-
-
-
-
3Gain-
TEX264-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX51-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFAP2A-
-
-
-
3Gain-
TFAP2C-
-
-
-
3Gain-
TFCP2L1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFG-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI-
-
-
-
1Loss-
TFRC-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
1Loss-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
3Gain-
THAP4-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THEGL-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THNSL2-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRAP3p.S764*
Nonsense
SNP
0.391
2--
THRB-
-
-
-
1Loss-
THSD7A-
-
-
-
5Amp-
THSD7B-
-
-
-
1Loss-
THTPA-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGIT-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLK1-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLR1-
-
-
-
3Gain-
TLR10-
-
-
-
3Gain-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR6-
-
-
-
3Gain-
TLR9-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF20-
-
-
-
1Loss-
TM4SF4-
-
-
-
3Gain-
TM9SF1-
-
-
-
1Loss-
TM9SF4-
-
-
-
3Gain-
TMA16-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMC2-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMED4-
-
-
-
5Amp-
TMEFF2-
-
-
-
1Loss-
TMEM106B-
-
-
-
5Amp-
TMEM108-
-
-
-
3Gain-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121-
-
-
-
3Gain-
TMEM121B-
-
-
-
1Loss-
TMEM127-
-
-
-
1Loss-
TMEM128-
-
-
-
3Gain-
TMEM129-
-
-
-
3Gain-
TMEM131-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156-
-
-
-
3Gain-
TMEM158-
-
-
-
1Loss-
TMEM163-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM170B-
-
-
-
3Gain-
TMEM175-
-
-
-
3Gain-
TMEM177-
-
-
-
1Loss-
TMEM182-
-
-
-
1Loss-
TMEM184A-
-
-
-
5Amp-
TMEM184B-
-
-
-
1Loss-
TMEM184C-
-
-
-
1Loss-
TMEM185B-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
5Amp-
TMEM198-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM220-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM253-
-
-
-
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-
TMEM74B-
-
-
-
3Gain-
TMEM87B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS7-
-
-
-
3Gain-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNF-
-
-
-
3Gain-
TNFAIP6-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNIK-
-
-
-
3Gain-
TNIP2-
-
-
-
3Gain-
TNIP3-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
3Gain-
TNP1-
-
-
-
1Loss-
TNRC18-
-
-
-
5Amp-
TNRC6B-
-
-
-
1Loss-
TNS1-
-
-
-
1Loss-
TNS3-
-
-
-
5Amp-
TNS4p.P335A
Missense
SNP
0.991
2--
TNXB-
-
-
-
3Gain-
TOB2-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM7-
-
-
-
5Amp-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53p.R248Q
Missense
SNP
0.994
2--
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPMT-
-
-
-
3Gain-
TPPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TPX2-
-
-
-
3Gain-
TRA2A-
-
-
-
5Amp-
TRA2B-
-
-
-
3Gain-
TRABD-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRAM1L1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
3Gain-
TRDMT1-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRGV8p.S79*
Nonsense
SNP
0.222
NDND-
TRH-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
5Amp-
TRIM10-
-
-
-
3Gain-
TRIM15-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM31-
-
-
-
3Gain-
TRIM35-
-
-
-
3Gain-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
3Gain-
TRIM39-RPP21-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP12-
-
-
-
1Loss-
TRIQK-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10Cp.D87N
Missense
SNP
0.272
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT2A-
-
-
-
1Loss-
TRMT44-
-
-
-
3Gain-
TRMT6-
-
-
-
3Gain-
TRMT9B-
-
-
-
3Gain-
TRMU-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPC4AP-
-
-
-
3Gain-
TRPM8-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSGA10-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
1Loss-
TSN-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN13-
-
-
-
5Amp-
TSPAN5-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSPYL5-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSC1p.D50N
Missense
SNP
0.500
NDND-
TSSK2-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC28-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC30A-
-
-
-
1Loss-
TTC30B-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTI1p.C297Y
p.Q20*
Missense
Nonsense
SNP
SNP
0.339
0.579
3Gain-
TTI2-
-
-
-
3Gain-
TTL-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL13P-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTLL9-
-
-
-
3Gain-
TTNp.R15701T
Missense
SNP
0.691
1Loss-
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TTYH3-
-
-
-
5Amp-
TUBA3D-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB-
-
-
-
3Gain-
TUBB1-
-
-
-
3Gain-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
5Amp-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
5Amp-
TXN2-
-
-
-
1Loss-
TXNDC5-
-
-
-
6Amp-
TXNDC9-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
3Gain-
TYMP-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2AF2p.D314N
Missense
SNP
0.315
2--
U2SURP-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
3Gain-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBD-
-
-
-
3Gain-
UBE2C-
-
-
-
3Gain-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
5Amp-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2K-
-
-
-
3Gain-
UBE2L3-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBR3-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBTFp.Q204R
Missense
SNP
0.487
2--
UBXN2B-
-
-
-
3Gain-
UBXN4-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UBXN8-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGDH-
-
-
-
3Gain-
UGGT1-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7p.Q234E
Missense
SNP
0.856
1Loss-
UGT8-
-
-
-
1Loss-
UHRF1BP1-
-
-
-
3Gain-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
5Amp-
UMODL1-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC13Cp.R292S
Missense
SNP
0.505
2--
UNC50-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC5D-
-
-
-
3Gain-
UNC80p.D956H
Missense
SNP
0.288
1Loss-
UNCX-
-
-
-
5Amp-
UPB1-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK3A-
-
-
-
1Loss-
UPP1-
-
-
-
5Amp-
UPP2-
-
-
-
1Loss-
UQCC1-
-
-
-
3Gain-
UQCC2-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URGCP-
-
-
-
5Amp-
URGCP-MRPS24-
-
-
-
5Amp-
URI1-
-
-
-
1Loss-
UROC1-
-
-
-
3Gain-
USF3-
-
-
-
3Gain-
USO1-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP16-
-
-
-
1Loss-
USP17L13-
-
-
-
3Gain-
USP17L7-
-
-
-
3Gain-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP34p.E622Q
Missense
SNP
0.437
2--
USP37-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP42-
-
-
-
5Amp-
USP43-
-
-
-
1Loss-
USP44p.S350*
p.L288V
Nonsense
Missense
SNP
SNP
0.540
0.511
2--
USP53-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
UTP23-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
UVSSA-
-
-
-
3Gain-
UXS1-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VARS-
-
-
-
3Gain-
VARS2-
-
-
-
3Gain-
VCANp.S1680N
Missense
SNP
0.506
2--
VCPIP1-
-
-
-
3Gain-
VDAC3-
-
-
-
3Gain-
VEGFC-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VGLL1p.K5*
Nonsense
SNP
0.496
NDND-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VOPP1-
-
-
-
5Amp-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13Bp.L1167F
Missense
SNP
0.417
3GainVPS13B--AL031847.2
VPS16-
-
-
-
3Gain-
VPS26C-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS37A-
-
-
-
3Gain-
VPS41-
-
-
-
5Amp-
VPS4B-
-
-
-
1Loss-
VPS52-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS8-
-
-
-
3Gain-
VSTM2A-
-
-
-
5Amp-
VSTM2B-
-
-
-
1Loss-
VSTM2L-
-
-
-
3Gain-
VSX1-
-
-
-
3Gain-
VWA3B-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA7-
-
-
-
3Gain-
VWC2-
-
-
-
5Amp-
VWC2L-
-
-
-
1Loss-
VWDE-
-
-
-
5Amp-
VXN-
-
-
-
3Gain-
WAC-
-
-
-
1Loss-
WASHC5-
-
-
-
3Gain-
WBP2NL-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDR1-
-
-
-
3Gain-
WDR12-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR19-
-
-
-
3Gain-
WDR24p.M726I
Missense
SNP
0.470
2--
WDR33-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR43p.D146H
Missense
SNP
0.481
2--
WDR46-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR6-
-
-
-
1Loss-
WDR64p.E790A
Missense
SNP
0.430
2--
WDR7-
-
-
-
1Loss-
WDR75-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR87p.F708L
Missense
SNP
0.257
2--
WDR97-
-
-
-
3Gain-
WDSUB1-
-
-
-
1Loss-
WDYHV1-
-
-
-
3Gain-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WFS1-
-
-
-
3Gain-
WIPF1-
-
-
-
1Loss-
WIPF3-
-
-
-
5Amp-
WIPI2-
-
-
-
5Amp-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WNT10A-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRN-
-
-
-
3Gain-
WRNIP1-
-
-
-
1Loss-
WT1p.S6F
Missense
SNP
0.540
2--
WWC2-
-
-
-
1Loss-
WWP1p.E485K
Missense
SNP
0.424
3Gain-
WWTR1-
-
-
-
3Gain-
XBP1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XIRP2p.P2312L
Missense
SNP
0.289
1Loss-
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR7-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPO5p.L357I
Missense
SNP
0.584
2--
XPO7-
-
-
-
3Gain-
XRCC2p.V184L
Missense
SNP
0.483
2--
XRCC5-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XRN2-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
5Amp-
YBEY-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YKT6-
-
-
-
5Amp-
YME1L1-
-
-
-
1Loss-
YPEL1-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
3Gain-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZANp.D1384H
Missense
SNP
0.475
2--
ZAP70-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED4-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBP1-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB11-
-
-
-
3Gain-
ZBTB12-
-
-
-
3Gain-
ZBTB20-
-
-
-
3Gain-
ZBTB21-
-
-
-
1Loss-
ZBTB22-
-
-
-
3Gain-
ZBTB34p.R466K
Missense
SNP
0.514
NDND-
ZBTB38-
-
-
-
3Gain-
ZBTB45-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB49-
-
-
-
3Gain-
ZBTB9-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H15-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H6-
-
-
-
1Loss-
ZC3H7B-
-
-
-
1Loss-
ZC3H8-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC2-
-
-
-
3Gain-
ZDHHC23-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
5Amp-
ZDHHC8-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZEB2-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
5Amp-
ZFAND2B-
-
-
-
1Loss-
ZFAT-
-
-
-
3Gain-
ZFHX2-
-
-
-
1Loss-
ZFHX4-
-
-
-
3Gain-
ZFP28-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP42-
-
-
-
1Loss-
ZFP57-
-
-
-
3Gain-
ZFP64-
-
-
-
3Gain-
ZFP82p.R498K
Missense
SNP
0.337
2--
ZFPM2-
-
-
-
3Gain-
ZFYVE28-
-
-
-
3Gain-
ZGPAT-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4p.E69Q
Missense
SNP
0.176
3Gain-
ZKSCAN5p.L784V
Missense
SNP
0.365
2--
ZKSCAN7-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
3Gain-
ZMAT3-
-
-
-
3Gain-
ZMAT4-
-
-
-
3Gain-
ZMAT5-
-
-
-
1Loss-
ZMIZ2-
-
-
-
5Amp-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF112-
-
-
-
1Loss-
ZNF12-
-
-
-
5Amp-
ZNF132-
-
-
-
1Loss-
ZNF133-
-
-
-
3Gain-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF141-
-
-
-
3Gain-
ZNF142-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF165-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF184-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF2-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
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-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF256-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF316-
-
-
-
5Amp-
ZNF322-
-
-
-
3Gain-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF330-
-
-
-
1Loss-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF337-
-
-
-
3Gain-
ZNF33A-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF385B-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF391-
-
-
-
3Gain-
ZNF395-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF414p.K289N
p.E22Q
Missense
Missense
SNP
SNP
0.621
0.671
2--
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF479-
-
-
-
5Amp-
ZNF497-
-
-
-
1Loss-
ZNF500p.E227K
Missense
SNP
0.414
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF507-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF514-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF518Bp.N782H
Missense
SNP
0.452
3Gain-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF536-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF559p.G207A
Missense
SNP
0.414
2--
ZNF572-
-
-
-
3Gain-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587Bp.S10C
Missense
SNP
0.331
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF595-
-
-
-
3Gain-
ZNF606-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF628p.S105C
p.A235D
Missense
Missense
SNP
SNP
0.641
0.636
2--
ZNF639-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF70-
-
-
-
1Loss-
ZNF703-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF71-
-
-
-
1Loss-
ZNF713-
-
-
-
5Amp-
ZNF716-
-
-
-
5Amp-
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
3Gain-
ZNF721-
-
-
-
3Gain-
ZNF732-
-
-
-
3Gain-
ZNF74-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF76-
-
-
-
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF774-
-
-
-
3Gain-
ZNF776-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF80-
-
-
-
3Gain-
ZNF804A-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF827-
-
-
-
1Loss-
ZNF831-
-
-
-
3Gain-
ZNF835-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
5Amp-
ZNF860-
-
-
-
1Loss-
ZNF91p.T955K
p.S948R
Missense
Missense
SNP
SNP
0.269
0.256
2--
ZNFX1-
-
-
-
3Gain-
ZNRD1-
-
-
-
3Gain-
ZNRF2-
-
-
-
5Amp-
ZNRF3-
-
-
-
1Loss-
ZPBP-
-
-
-
5Amp-
ZPLD1-
-
-
-
3Gain-
ZRANB3p.L890F
Missense
SNP
0.671
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN18-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN23-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN31-
-
-
-
3Gain-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSCAN9-
-
-
-
3Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM2-
-
-
-
1Loss-
ZSWIM3-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZXDC-
-
-
-
3Gain-
ZZEF1-
-
-
-
1Loss-