PDMR-324938~238-R~AV2T68P82_RG-N29-P3

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AAGAB-
-
-
-
1Loss-
AAK1-
-
-
-
3Gain-
ABCA13-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB7p.R22W
Missense
SNP
0.598
NDND-
ABCD4-
-
-
-
1Loss-
ABCG5-
-
-
-
3Gain-
ABCG8-
-
-
-
3Gain-
ABHD1-
-
-
-
3Gain-
ABHD12-
-
-
-
1Loss-
ABHD12B-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD17C-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABLIM3-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC005041.1-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005520.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007040.2-
-
-
-
3Gain-
AC007240.1-
-
-
-
3Gain-
AC007375.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008073.3-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC013717.1-
-
-
-
3Gain-
AC017083.3-
-
-
-
3Gain-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC022414.1-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC069368.1-
-
-
-
1Loss-
AC073082.1-
-
-
-
3Gain-
AC073283.3-
-
-
-
3Gain-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC108488.2-
-
-
-
3Gain-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC113348.2-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC124312.1-
-
-
-
1Loss-
AC134980.3-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACIN1-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACP1-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACSBG1-
-
-
-
1Loss-
ACSL1-
-
-
-
3Gain-
ACSL6-
-
-
-
1Loss-
ACSS1-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTG2-
-
-
-
3Gain-
ACTN1-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTR10-
-
-
-
1Loss-
ACTR2-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ACYP2-
-
-
-
3Gain-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM15-
-
-
-
5Amp-
ADAM17-
-
-
-
3Gain-
ADAM18-
-
-
-
0Del-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
0Del-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM33-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS16-
-
-
-
3Gain-
ADAMTS17-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5p.A159V
Missense
SNP
0.527
2--
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADAT2-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCY1-
-
-
-
1Loss-
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY3-
-
-
-
3Gain-
ADCY4-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD2-
-
-
-
3Gain-
ADGB-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRF3-
-
-
-
3Gain-
ADGRG6-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADI1-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADPGK-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
AEBP1-
-
-
-
1Loss-
AEN-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AFTPH-
-
-
-
3Gain-
AGAP1p.V74E
Missense
SNP
0.569
2--
AGBL1-
-
-
-
1Loss-
AGBL5-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGT-
-
-
-
3Gain-
AGXT2-
-
-
-
3Gain-
AHCTF1p.D1525N
Missense
SNP
0.292
3Gain-
AHI1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
6Amp-
AHSA1-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIG1-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AJUBA-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP13-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKIRIN2-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AL031315.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
1Loss-
AL049634.2-
-
-
-
1Loss-
AL049650.1-
-
-
-
1Loss-
AL049697.1-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
1Loss-
AL121722.1-
-
-
-
1Loss-
AL121758.1-
-
-
-
1Loss-
AL121900.2-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL136531.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL365214.3-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
5Amp-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALK-
-
-
-
3Gain-
ALKAL2-
-
-
-
3Gain-
ALKBH1-
-
-
-
1Loss-
ALLC-
-
-
-
3Gain-
ALMS1-
-
-
-
3Gain-
ALPK2-
-
-
-
3Gain-
ALPK3-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
AMACR-
-
-
-
3Gain-
AMD1-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
1Loss-
AMZ1-
-
-
-
3Gain-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPT4-
-
-
-
1Loss-
ANGPTL1-
-
-
-
3Gain-
ANK1-
-
-
-
1Loss-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD53-
-
-
-
3Gain-
ANKRD55-
-
-
-
1Loss-
ANKRD6-
-
-
-
1Loss-
ANKRD60p.V53D
Missense
DNP
0.429
2--
ANKRD61-
-
-
-
3Gain-
ANKRD63-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANP32A-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
1Loss-
ANTXR1-
-
-
-
3Gain-
ANXA2-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA4-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AP1G2-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
AP5S1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APBA2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
1Loss-
APLF-
-
-
-
3Gain-
APMAP-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA5p.EE98DK
Missense
DNP
0.480
2--
APOB-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOPT1-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP4-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARG2-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP25-
-
-
-
3Gain-
ARHGAP26-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP5-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF10Lp.G831R
Missense
SNP
0.459
2--
ARHGEF11-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF33-
-
-
-
3Gain-
ARHGEF37-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARID1B-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARIH1-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ASAH1-
-
-
-
1Loss-
ASAP2-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB3-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASPRV1-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ASXL2-
-
-
-
3Gain-
ASXL3-
-
-
-
1Loss-
ATAD2B-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATL1-
-
-
-
1Loss-
ATL2-
-
-
-
3Gain-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP5F1A-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1B1-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C2-
-
-
-
3Gain-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP8B1-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP8B4-
-
-
-
1Loss-
ATP9Bp.A1059T
Missense
SNP
1.000
1Loss-
ATRAID-
-
-
-
3Gain-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
1Loss-
ATRNL1p.E1291V
Missense
SNP
0.547
2--
ATXN3-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AUP1-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AVL9-
-
-
-
3Gain-
AVP-
-
-
-
1Loss-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GNT2-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT6-
-
-
-
1Loss-
B4GALT7-
-
-
-
1Loss-
BABAM2-
-
-
-
3Gain-
BACH2-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BANF2-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BATF-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAZ1A-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCL11A-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCLAF1-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BFSP1-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC6-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLM-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP10-
-
-
-
3Gain-
BMP2-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BNC1-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOD1L2-
-
-
-
3Gain-
BOLA3-
-
-
-
3Gain-
BORCS6p.R280C
Missense
SNP
1.000
2--
BPNT1-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
6Amp-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRMS1L-
-
-
-
1Loss-
BROX-
-
-
-
3Gain-
BSN-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD3-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C1D-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1GALT1C1L-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112p.A412V
Missense
SNP
0.365
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf167p.F806L
Missense
SNP
0.397
2--
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56p.P186T
Missense
SNP
0.663
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QAp.H225Y
Missense
SNP
0.517
2--
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C20orf141-
-
-
-
1Loss-
C20orf194-
-
-
-
1Loss-
C20orf202-
-
-
-
1Loss-
C20orf27-
-
-
-
1Loss-
C20orf96-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2orf16-
-
-
-
3Gain-
C2orf42-
-
-
-
3Gain-
C2orf50-
-
-
-
3Gain-
C2orf70-
-
-
-
3Gain-
C2orf73-
-
-
-
3Gain-
C2orf74-
-
-
-
3Gain-
C2orf78-
-
-
-
3Gain-
C2orf81-
-
-
-
3Gain-
C2orf91-
-
-
-
3Gain-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20p.W659F
Missense
DNP
0.500
2--
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf163-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf58-
-
-
-
1Loss-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
1Loss-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
1Loss-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
C9-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CABYR-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1Ep.P2224S
Missense
SNP
0.659
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CAD-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
1Loss-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM2-
-
-
-
3Gain-
CALML4-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKMT-
-
-
-
3Gain-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAPN13-
-
-
-
3Gain-
CAPN14-
-
-
-
3Gain-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPSL-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARMIL3-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP3-
-
-
-
3Gain-
CASP8AP2-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
3Gain-
CCDC102B-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC121-
-
-
-
3Gain-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
6Amp-
CCDC13-
-
-
-
1Loss-
CCDC142-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC170-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC62p.S669*
Nonsense
SNP
0.560
2--
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC85A-
-
-
-
3Gain-
CCDC85C-
-
-
-
1Loss-
CCDC88A-
-
-
-
3Gain-
CCDC88C-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCL28-
-
-
-
3Gain-
CCM2-
-
-
-
1Loss-
CCM2L-
-
-
-
12Amp-
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR6-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT4-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCT7-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD164-
-
-
-
1Loss-
CD164L2-
-
-
-
3Gain-
CD180-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD207-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD276-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD93-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC14C-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
1Loss-
CDC42EP3-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
3Gain-
CDH24-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR2-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDK13-
-
-
-
1Loss-
CDK18-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK7-
-
-
-
1Loss-
CDKL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKL4-
-
-
-
3Gain-
CDKN2AIP-
-
-
-
3Gain-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDS2-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CEBPE-
-
-
-
1Loss-
CEBPZ-
-
-
-
3Gain-
CEBPZOS-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CENPA-
-
-
-
3Gain-
CENPB-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPL-
-
-
-
3Gain-
CENPO-
-
-
-
3Gain-
CENPU-
-
-
-
3Gain-
CENPW-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CEP57L1-
-
-
-
1Loss-
CEP68-
-
-
-
3Gain-
CEP72-
-
-
-
6Amp-
CEP85L-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP36-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFAP53-
-
-
-
1Loss-
CFAP61-
-
-
-
1Loss-
CFAP97-
-
-
-
3Gain-
CFHp.R1215Q
Missense
SNP
0.649
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFL2-
-
-
-
1Loss-
CGA-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CGREF1-
-
-
-
3Gain-
CGRRF1-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAC2-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHD1p.S1387L
Missense
SNP
1.000
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
1Loss-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHMp.D617N
Missense
SNP
0.467
NDND-
CHML-
-
-
-
3Gain-
CHMP4A-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHP1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA3-
-
-
-
1Loss-
CHRNA5-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHST10p.W43*
Nonsense
SNP
0.472
2--
CHST12-
-
-
-
3Gain-
CHST14-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO2A-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIB4-
-
-
-
3Gain-
CIDEB-
-
-
-
1Loss-
CILP-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKAP4-
-
-
-
2-PTP4A2--CKAP4
CKB-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLDN20-
-
-
-
1Loss-
CLDN22-
-
-
-
3Gain-
CLDN23-
-
-
-
1Loss-
CLDN24-
-
-
-
3Gain-
CLEC14A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4F-
-
-
-
3Gain-
CLHC1-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP4-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLPTM1L-
-
-
-
6Amp-
CLPX-
-
-
-
1Loss-
CLTB-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMPK2-
-
-
-
3Gain-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNIH1-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR3-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT6-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNRIP1-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
COA1-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COBL-
-
-
-
1Loss-
COCH-
-
-
-
1Loss-
COG2-
-
-
-
3Gain-
COL10A1-
-
-
-
1Loss-
COL23A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COLEC11-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COMMD1-
-
-
-
3Gain-
COMMD10-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COQ3-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
CORO2B-
-
-
-
1Loss-
COX10p.R73S
Missense
SNP
0.997
2--
COX16-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX5A-
-
-
-
1Loss-
COX7A2L-
-
-
-
3Gain-
COX7C-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPLANE1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
3Gain-
CPNE6-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CPSF3-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBPp.K1203*
Nonsense
SNP
0.514
2--
CREBRF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIM1-
-
-
-
3Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIPT-
-
-
-
3Gain-
CRLS1-
-
-
-
1Loss-
CRNKL1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
1Loss-
CRYBG1-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1G1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CST1-
-
-
-
1Loss-
CST11-
-
-
-
1Loss-
CST2-
-
-
-
1Loss-
CST3-
-
-
-
1Loss-
CST4-
-
-
-
1Loss-
CST5-
-
-
-
1Loss-
CST7-
-
-
-
1Loss-
CST8-
-
-
-
1Loss-
CST9-
-
-
-
1Loss-
CST9L-
-
-
-
1Loss-
CSTL1-
-
-
-
1Loss-
CT62-
-
-
-
1Loss-
CTAGE9-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTSB-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSG-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYP11A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP1B1-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP26B1-
-
-
-
3Gain-
CYP2W1-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYS1-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
DAAM1-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DACT1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAP-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPK2-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DBN1-
-
-
-
1Loss-
DBNL-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF4-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCBLD1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCDC2Bp.G172R
Missense
SNP
0.444
2--
DCDC2C-
-
-
-
3Gain-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCST1-
-
-
-
5Amp-
DCST2-
-
-
-
5Amp-
DCTN1-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDRGK1-
-
-
-
1Loss-
DDX1-
-
-
-
3Gain-
DDX20p.E376Q
Missense
SNP
0.505
2--
DDX24-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX56-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB115-
-
-
-
9Amp-
DEFB116-
-
-
-
9Amp-
DEFB118-
-
-
-
9Amp-
DEFB119-
-
-
-
9Amp-
DEFB121-
-
-
-
9Amp-
DEFB123-
-
-
-
9Amp-
DEFB124-
-
-
-
9Amp-
DEFB125-
-
-
-
1Loss-
DEFB126-
-
-
-
1Loss-
DEFB127-
-
-
-
1Loss-
DEFB128-
-
-
-
1Loss-
DEFB129-
-
-
-
1Loss-
DEFB132-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND1B-
-
-
-
3Gain-
DENND4A-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DEPDC1B-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKKp.L1095Q
Missense
SNP
0.430
NDND-
DGLUCY-
-
-
-
1Loss-
DGUOK-
-
-
-
3Gain-
DHFR-
-
-
-
1Loss-
DHODHp.R69W
Missense
SNP
0.489
2--
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX57-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIDO1p.A2109V
Missense
SNP
0.467
2--
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIS3L-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLEC1p.E840K
Missense
SNP
0.989
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL1-
-
-
-
1Loss-
DLL4p.C659Y
Missense
SNP
1.000
1Loss-
DLST-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DMXL2p.A607P
Missense
SNP
1.000
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH11-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH5-
-
-
-
3Gain-
DNAJA4-
-
-
-
1Loss-
DNAJC13p.E815K
Missense
SNP
0.564
2--
DNAJC17-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC21-
-
-
-
3Gain-
DNAJC27-
-
-
-
3Gain-
DNAJC5G-
-
-
-
3Gain-
DNAL1-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNHD1p.I2978N
Missense
SNP
0.570
2--
DNM3-
-
-
-
3Gain-
DNMT3A-
-
-
-
3Gain-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOK1-
-
-
-
3Gain-
DOK2-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP8-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY30-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DPYSL5-
-
-
-
3Gain-
DQX1-
-
-
-
3Gain-
DRC1-
-
-
-
3Gain-
DRD1-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSE-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSTN-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTD1-
-
-
-
1Loss-
DTD2-
-
-
-
1Loss-
DTL-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
3Gain-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP11-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27-
-
-
-
3Gain-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
3Gain-
DYNLT1-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DYSF-
-
-
-
3Gain-
DZANK1-
-
-
-
1Loss-
E2F6-
-
-
-
3Gain-
EAPP-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBF4-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
ECHDC1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2L-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB11-
-
-
-
1Loss-
EFCAB2-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFEMP1-
-
-
-
3Gain-
EFL1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
5Amp-
EFNA4-
-
-
-
5Amp-
EFNA5-
-
-
-
1Loss-
EFR3B-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
1Loss-
EGLN1-
-
-
-
3Gain-
EGLN3-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EGR4-
-
-
-
3Gain-
EHBP1-
-
-
-
3Gain-
EHD3-
-
-
-
3Gain-
EHD4-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2AK2-
-
-
-
3Gain-
EIF2AK4-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2B4-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF2S1-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIPR1-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMSAN1-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMCNp.T82A
Missense
SNP
0.867
2--
EMILIN1-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EML4-
-
-
-
3Gain-
EML5-
-
-
-
1Loss-
EML6-
-
-
-
3Gain-
EMX1-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP6-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD6-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPAS1-
-
-
-
3Gain-
EPB41-
-
-
-
1Loss-
EPB41L2-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPCAM-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
1Loss-
EPHA7-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPPK1-
-
-
-
1Loss-
EPRS-
-
-
-
3Gain-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH3p.Y382S
Missense
SNP
0.390
2--
ERICH5-
-
-
-
1Loss-
ERLEC1-
-
-
-
3Gain-
ERLIN2-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESF1-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESR1p.Y583*
Nonsense
SNP
1.000
1Loss-
ESR2-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ETAA1-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETV1-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVA1A-
-
-
-
3Gain-
EVL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXD1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC3-
-
-
-
6Amp-
EXOC3L4-
-
-
-
1Loss-
EXOC5-
-
-
-
1Loss-
EXOC6B-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F12-
-
-
-
1Loss-
F13B-
-
-
-
3Gain-
F2p.D266H
Missense
SNP
0.429
2--
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FABP7-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAH-
-
-
-
1Loss-
FAM110A-
-
-
-
1Loss-
FAM110C-
-
-
-
3Gain-
FAM114A2-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM136A-
-
-
-
3Gain-
FAM13B-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161A-
-
-
-
3Gain-
FAM161B-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM167A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM181A-
-
-
-
1Loss-
FAM184A-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189B-
-
-
-
3Gain-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM19A4-
-
-
-
1Loss-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM219B-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM227B-
-
-
-
1Loss-
FAM228A-
-
-
-
3Gain-
FAM228B-
-
-
-
3Gain-
FAM229B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM49A-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM84A-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM98A-
-
-
-
3Gain-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCI-
-
-
-
1Loss-
FANCL-
-
-
-
3Gain-
FANCM-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASTKD3-
-
-
-
3Gain-
FASTKD5-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL22-
-
-
-
1Loss-
FBXL4-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXO11-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO30-
-
-
-
1Loss-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO41-
-
-
-
3Gain-
FBXO48-
-
-
-
3Gain-
FBXO5-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCF1-
-
-
-
1Loss-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
1Loss-
FCGR2C-
-
-
-
1Loss-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
1Loss-
FCHO1p.E511K
Missense
SNP
0.536
2--
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCN3-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
1Loss-
FERMT2-
-
-
-
1Loss-
FES-
-
-
-
1Loss-
FEZ2-
-
-
-
3Gain-
FEZF2-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR4-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHL5-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGLA-
-
-
-
3Gain-
FIGNL1-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FKBP14-
-
-
-
3Gain-
FKBP1A-
-
-
-
1Loss-
FKBP1B-
-
-
-
3Gain-
FKBP3-
-
-
-
1Loss-
FKBP9-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
5Amp-
FLRT2-
-
-
-
1Loss-
FLRT3-
-
-
-
1Loss-
FLT4-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FLVCR2-
-
-
-
1Loss-
FMN1p.E186K
Missense
SNP
1.000
1Loss-
FMN2p.Q223K
Missense
SNP
0.382
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3p.F242L
Missense
SNP
0.283
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNDC1-
-
-
-
1Loss-
FNDC4-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSBp.S13C
Missense
SNP
0.468
2--
FOSL2-
-
-
-
3Gain-
FOXA1-
-
-
-
1Loss-
FOXA2-
-
-
-
1Loss-
FOXB1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXG1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXN2-
-
-
-
3Gain-
FOXN3-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FSCB-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSHR-
-
-
-
3Gain-
FSIP1-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FYBp.WG778C*
Nonsense
DNP
0.621
NDND-
FYB1-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G2E3-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALM-
-
-
-
3Gain-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT14-
-
-
-
3Gain-
GALNT16-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALR1-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAREM2-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS8p.D433N
Missense
SNP
0.498
2--
GATA4-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GCFC2-
-
-
-
3Gain-
GCH1-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCK-
-
-
-
1Loss-
GCKR-
-
-
-
3Gain-
GCNT3-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCOM1-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDF7-
-
-
-
3Gain-
GDF9-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPGP1-
-
-
-
1Loss-
GEMIN2-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN6-
-
-
-
3Gain-
GEN1-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GFPT1-
-
-
-
3Gain-
GFPT2-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGTLC1-
-
-
-
1Loss-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GINM1-
-
-
-
1Loss-
GINS1-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB7-
-
-
-
1Loss-
GJC2-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GJE1-
-
-
-
1Loss-
GKN1-
-
-
-
3Gain-
GKN2-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLI3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLRX5-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL1-
-
-
-
3Gain-
GMCL2-
-
-
-
1Loss-
GMFB-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNB5-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GNRH2-
-
-
-
1Loss-
GNRHR-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
1Loss-
GOPC-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAT4-
-
-
-
1Loss-
GPATCH11-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH2L-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPBP1-
-
-
-
1Loss-
GPCPD1-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPN1-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR137C-
-
-
-
1Loss-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR33p.F244L
Missense
SNP
0.990
1Loss-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR6-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR75-
-
-
-
3Gain-
GPR75-ASB3-
-
-
-
3Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC6A-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX7p.D186N
Missense
SNP
0.406
2--
GPX8-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRB10-
-
-
-
1Loss-
GREB1-
-
-
-
3Gain-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHL1-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRID1p.V582L
Missense
SNP
0.503
2--
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRM1-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM6-
-
-
-
1Loss-
GRP-
-
-
-
3Gain-
GRPEL2-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSDME-
-
-
-
3Gain-
GSKIP-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2A1L-
-
-
-
3Gain-
GTF2A2-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H5-
-
-
-
1Loss-
GTF3C2-
-
-
-
3Gain-
GTF3C6-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GVQW2-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYS2p.D86N
Missense
SNP
0.494
2--
GZF1-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFV-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
HAAO-
-
-
-
3Gain-
HACD3-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HADHA-
-
-
-
3Gain-
HADHB-
-
-
-
3Gain-
HAND1-
-
-
-
1Loss-
HAO1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBEGF-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HCK-
-
-
-
12Amp-
HCN1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HDAC2-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDDC2-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEATR5B-
-
-
-
3Gain-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECW1-
-
-
-
1Loss-
HELT-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY2-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIF1A-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIST2H3PS2-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK2-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HLCS-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HM13-
-
-
-
9Amp-
HMBOX1-
-
-
-
1Loss-
HMCN1p.D3218E
Missense
SNP
0.340
3Gain-
HMG20A-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPLL-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HPCAL1-
-
-
-
3Gain-
HPSEp.S213P
Missense
SNP
0.436
2--
HR-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS1BP3-
-
-
-
3Gain-
HS3ST5-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSPA12B-
-
-
-
1Loss-
HSPA2-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTRA2-
-
-
-
3Gain-
HTRA4-
-
-
-
1Loss-
HUS1-
-
-
-
1Loss-
HUWE1p.I1942V
Missense
SNP
0.538
NDND-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IAH1-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
ICE2-
-
-
-
1Loss-
ID1-
-
-
-
9Amp-
ID2-
-
-
-
3Gain-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT172-
-
-
-
3Gain-
IFT43-
-
-
-
1Loss-
IFT52p.D244V
Missense
SNP
0.524
2--
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1R-
-
-
-
1Loss-
IGF2BP1p.G162R
Missense
SNP
1.000
2--
IGF2BP3-
-
-
-
3Gain-
IGF2R-
-
-
-
1Loss-
IGFBP1-
-
-
-
1Loss-
IGFBP3-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IK-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
1Loss-
IL10-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL16-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL25-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMPACT-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INF2-
-
-
-
1Loss-
ING2-
-
-
-
3Gain-
INHBA-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80-
-
-
-
1Loss-
INO80B-
-
-
-
3Gain-
INO80B-WBP1-
-
-
-
3Gain-
INO80C-
-
-
-
1Loss-
INSM1-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCH-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
1Loss-
IRF5p.G496A
Missense
SNP
0.606
2--
IRF6-
-
-
-
3Gain-
IRF9-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
6Amp-
ISCA2-
-
-
-
1Loss-
ISG20-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
1Loss-
ISM2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
ITGA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPA-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITSN2-
-
-
-
3Gain-
IVD-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JDP2-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
KAT14-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD13-
-
-
-
1Loss-
KBTBD2-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNF1-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
3Gain-
KCNH1-
-
-
-
3Gain-
KCNH5-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK12-
-
-
-
3Gain-
KCNK13-
-
-
-
1Loss-
KCNK2-
-
-
-
3Gain-
KCNK3-
-
-
-
3Gain-
KCNMA1p.G960E
Missense
SNP
0.476
2--
KCNMB1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNS2-
-
-
-
1Loss-
KCNS3-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCTD1-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD5p.S82L
Missense
SNP
0.471
2--
KCTD9-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KDM6Ap.Q274*
Nonsense
SNP
0.509
NDND-
KDSR-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHK-
-
-
-
3Gain-
KHNYN-
-
-
-
1Loss-
KIAA0040-
-
-
-
3Gain-
KIAA0391-
-
-
-
1Loss-
KIAA0408-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1191-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1841-
-
-
-
3Gain-
KIDINS220-
-
-
-
3Gain-
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3B-
-
-
-
1Loss-
KIF3C-
-
-
-
3Gain-
KIF4Ap.T103A
Missense
SNP
0.476
NDND-
KIF4B-
-
-
-
1Loss-
KIF7-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KIZ-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLF11-
-
-
-
3Gain-
KLF13-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL14-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL25-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL29-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL5p.V625L
Missense
SNP
0.350
2--
KLHL7-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRBOX1-
-
-
-
1Loss-
KRTAP1-1-
-
-
-
1Loss-
KRTAP1-3-
-
-
-
1Loss-
KRTAP1-5-
-
-
-
1Loss-
KRTAP29-1-
-
-
-
1Loss-
KRTAP3-1-
-
-
-
1Loss-
KRTAP3-2-
-
-
-
1Loss-
KRTAP3-3-
-
-
-
1Loss-
KRTAP4-1-
-
-
-
1Loss-
KRTAP4-11-
-
-
-
1Loss-
KRTAP4-12-
-
-
-
1Loss-
KRTAP4-16-
-
-
-
1Loss-
KRTAP4-2-
-
-
-
1Loss-
KRTAP4-3-
-
-
-
1Loss-
KRTAP4-4-
-
-
-
1Loss-
KRTAP4-6-
-
-
-
1Loss-
KRTAP4-7-
-
-
-
1Loss-
KRTAP4-8-
-
-
-
1Loss-
KRTAP4-9-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
1Loss-
KRTAP9-2-
-
-
-
1Loss-
KRTAP9-3-
-
-
-
1Loss-
KRTAP9-4-
-
-
-
1Loss-
KRTAP9-7-
-
-
-
1Loss-
KRTAP9-8-
-
-
-
1Loss-
KRTAP9-9-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KRTCAP3-
-
-
-
3Gain-
KTN1-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL3-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAMA2-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP5-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LANCL2-
-
-
-
1Loss-
LAPTM4A-
-
-
-
3Gain-
LAPTM4B-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LATS1-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LBH-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LBX2-
-
-
-
3Gain-
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-
LCLAT1-
-
-
-
3Gain-
LCMT2-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LCTL-
-
-
-
1Loss-
LDAH-
-
-
-
3Gain-
LDHAL6B-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS3-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALSL-
-
-
-
3Gain-
LGI3-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR6-
-
-
-
3Gain-
LHCGR-
-
-
-
3Gain-
LHFPL2-
-
-
-
1Loss-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LIMD1-
-
-
-
1Loss-
LIN28B-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
1Loss-
LINGO1-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LMAN1-
-
-
-
3Gain-
LMAN1L-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMOD3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LOXL3-
-
-
-
3Gain-
LPA-
-
-
-
1Loss-
LPCAT1-
-
-
-
6Amp-
LPCAT4-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPIN1-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRPPRC-
-
-
-
3Gain-
LRR1-
-
-
-
1Loss-
LRRC14B-
-
-
-
6Amp-
LRRC2-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC57-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRK1-
-
-
-
1Loss-
LRRN2-
-
-
-
3Gain-
LRRN4-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRRTM4-
-
-
-
3Gain-
LRTM1-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP1-
-
-
-
3Gain-
LTBP2-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LTN1p.X61_splice
Splice_Site
SNP
0.662
2--
LTV1-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYRM2-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
LZTS3-
-
-
-
1Loss-
M1AP-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MACROD2-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAEL-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGED1p.S762C
Missense
SNP
0.547
NDND-
MAGEL2-
-
-
-
1Loss-
MAGI1-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MALT1-
-
-
-
3Gain-
MAML1-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP2K1-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K6-
-
-
-
3Gain-
MAP3K7-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K3-
-
-
-
3Gain-
MAP4K5-
-
-
-
1Loss-
MAP7-
-
-
-
1Loss-
MAPK1IP1L-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MAPRE3-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCH7p.X669_splice
Splice_Site
SNP
0.490
2--
MARCKS-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK3-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN2-
-
-
-
1Loss-
MATN3-
-
-
-
3Gain-
MATR3-
-
-
-
1Loss-
MAVS-
-
-
-
1Loss-
MAX-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBOAT2-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
3Gain-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCEE-
-
-
-
3Gain-
MCFD2-
-
-
-
3Gain-
MCHR2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM8-
-
-
-
1Loss-
MCM9-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCTS2P-
-
-
-
9Amp-
MDGA2-
-
-
-
1Loss-
MDH1-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MED10-
-
-
-
3Gain-
MED23-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2A-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEIS1-
-
-
-
3Gain-
MEIS2-
-
-
-
1Loss-
MEMO1-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
1Loss-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL17-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL24-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFSD2B-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MGA-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT4B-
-
-
-
1Loss-
MGME1-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA2-
-
-
-
1Loss-
MIA3-
-
-
-
3Gain-
MICAL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICU3-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIPOL1-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKKS-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMP14-
-
-
-
1Loss-
MMS22L-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB1A-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGS-
-
-
-
3Gain-
MOK-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN2-
-
-
-
3Gain-
MOSPD2p.S321I
Missense
SNP
0.468
NDND-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPHOSPH10-
-
-
-
3Gain-
MPI-
-
-
-
1Loss-
MPLKIP-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP6-
-
-
-
3Gain-
MPV17-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MROH2Bp.M702T
Missense
SNP
0.607
3Gain-
MROH9-
-
-
-
3Gain-
MRPL18-
-
-
-
1Loss-
MRPL19-
-
-
-
3Gain-
MRPL22-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL32-
-
-
-
1Loss-
MRPL33-
-
-
-
3Gain-
MRPL36-
-
-
-
6Amp-
MRPL46-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL53-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS14-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS24-
-
-
-
1Loss-
MRPS26-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRVI1p.K453R
Missense
SNP
0.549
2--
MSGN1-
-
-
-
3Gain-
MSH2-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSH6p.G211A
Missense
SNP
0.685
3Gain-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX2-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MTA1-
-
-
-
1Loss-
MTA3-
-
-
-
3Gain-
MTDH-
-
-
-
1Loss-
MTFMT-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTHFD1-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTHFD2-
-
-
-
3Gain-
MTHFS-
-
-
-
1Loss-
MTIF2-
-
-
-
3Gain-
MTMR10-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRF1L-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC16p.T13351M
Missense
SNP
0.391
2--
MUC5Bp.W1340*
Nonsense
SNP
0.517
2--
MUSTN1-
-
-
-
1Loss-
MXD1-
-
-
-
3Gain-
MXD3-
-
-
-
1Loss-
MXRA5p.R2699L
Missense
SNP
0.494
NDND-
MYB-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYCN-
-
-
-
3Gain-
MYCT1-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL7-
-
-
-
1Loss-
MYO10-
-
-
-
3Gain-
MYO1E-
-
-
-
1Loss-
MYO1G-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO9A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYT1L-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA20-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NACAD-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NAGK-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANP-
-
-
-
1Loss-
NAPB-
-
-
-
1Loss-
NARS-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAT8-
-
-
-
3Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBAS-
-
-
-
3Gain-
NBEAL2-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCKIPSD-
-
-
-
1Loss-
NCOA1-
-
-
-
3Gain-
NCOA7-
-
-
-
1Loss-
NCOR2p.V2446L
Missense
SNP
0.571
2--
NCSTN-
-
-
-
3Gain-
NDFIP1p.R146I
Missense
DNP
1.000
1Loss-
NDN-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFAF5-
-
-
-
1Loss-
NDUFAF7-
-
-
-
3Gain-
NDUFB1-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
6Amp-
NEBLp.A319V
Missense
SNP
0.492
2--
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
3Gain-
NEDD8p.E32D
Missense
SNP
1.000
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK4-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NEK9-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NFASC-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFKBIA-
-
-
-
1Loss-
NFU1-
-
-
-
3Gain-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHP2-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NID2-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NIN-
-
-
-
1Loss-
NINL-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NKAIN2-
-
-
-
1Loss-
NKD2-
-
-
-
6Amp-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-1-
-
-
-
1Loss-
NKX2-2-
-
-
-
1Loss-
NKX2-4-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRC3p.L309P
Missense
SNP
0.477
2--
NLRC4-
-
-
-
3Gain-
NLRP3-
-
-
-
3Gain-
NMB-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME1-
-
-
-
4Gain-
NME1-NME2-
-
-
-
4Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMUR2-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOL10-
-
-
-
3Gain-
NOL4-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOP56-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTO-
-
-
-
3Gain-
NOVA1-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOX5-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPATp.T688M
Missense
SNP
0.552
2--
NPC1-
-
-
-
1Loss-
NPC1L1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
1Loss-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2E1-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRBP1-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRG1-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRSN2-
-
-
-
1Loss-
NRXN1-
-
-
-
3Gain-
NRXN3-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSFL1Cp.E87D
Missense
SNP
0.630
1Loss-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NSUN2-
-
-
-
3Gain-
NT5C1B-
-
-
-
3Gain-
NT5C1B-RDH14-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5DC1-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTSR2-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUBPL-
-
-
-
1Loss-
NUCKS1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
1Loss-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUGGC-
-
-
-
1Loss-
NUMB-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP43-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUS1-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXT1-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OCA2-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCLNp.E295D
Missense
SNP
1.000
1Loss-
OCM-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODC1-
-
-
-
3Gain-
ODF3L1-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLIG3-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPRM1-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR2A4-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W3-
-
-
-
3Gain-
OR2Y1-
-
-
-
1Loss-
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M2-
-
-
-
1Loss-
OR4N4-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5W2p.S40P
Missense
SNP
0.495
2--
OR6F1-
-
-
-
3Gain-
OR6J1-
-
-
-
1Loss-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6S1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
ORC3p.I236L
Missense
SNP
0.172
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL1A-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSGEP-
-
-
-
1Loss-
OSMR-
-
-
-
3Gain-
OSR1-
-
-
-
3Gain-
OST4-
-
-
-
3Gain-
OSTF1p.D141N
Missense
SNP
1.000
2--
OSTM1-
-
-
-
1Loss-
OTOAp.V571L
Missense
SNP
0.615
2--
OTOF-
-
-
-
3Gain-
OTOR-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD5p.R404G
Missense
SNP
0.580
NDND-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX1-
-
-
-
3Gain-
OTX2-
-
-
-
1Loss-
OVOL2-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXER1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPC4L-
-
-
-
3Gain-
PABPN1-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAIP2B-
-
-
-
3Gain-
PAK5-
-
-
-
1Loss-
PAK6-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PANK2-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPOLGp.X343_splice
Splice_Site
SNP
0.658
3Gain-
PAPPAp.L788I
Missense
SNP
1.000
2--
PAPPA2-
-
-
-
3Gain-
PAQR5-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP16-
-
-
-
1Loss-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAX1-
-
-
-
1Loss-
PAX9-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCARE-
-
-
-
3Gain-
PCBD2-
-
-
-
1Loss-
PCBP1-
-
-
-
3Gain-
PCBP4-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10-
-
-
-
3Gain-
PCDH12-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13p.*799Sext*2
Nonstop
SNP
1.000
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4p.E415*
p.D664N
p.E685K
Nonsense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
1.000
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCED1A-
-
-
-
1Loss-
PCGF1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCLAF-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCNA-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCNX4-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
1Loss-
PCSK6-
-
-
-
1Loss-
PCYOX1-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD2-
-
-
-
1Loss-
PDCD6-
-
-
-
6Amp-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE1C-
-
-
-
3Gain-
PDE4D-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6A-
-
-
-
1Loss-
PDE7B-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA6-
-
-
-
3Gain-
PDLIM2-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDRG1-
-
-
-
12Amp-
PDSS2-
-
-
-
1Loss-
PDYN-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PEG10p.K182R
Missense
SNP
0.477
2--
PELI1-
-
-
-
3Gain-
PELI2-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PET117-
-
-
-
1Loss-
PEX11A-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX13-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFN3-
-
-
-
1Loss-
PFN4-
-
-
-
3Gain-
PGAM2-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGBD5-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGLYRP3p.D167N
Missense
SNP
0.341
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGPEP1L-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF7-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIF1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGF-
-
-
-
3Gain-
PIGH-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PIK3C3-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1Cp.S95I
Missense
SNP
0.529
2--
PITX1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDCC-
-
-
-
3Gain-
PKIB-
-
-
-
1Loss-
PKIGp.A39L
Missense
DNP
0.479
2--
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PLA2G4A-
-
-
-
5Amp-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLAGL2-
-
-
-
12Amp-
PLAT-
-
-
-
1Loss-
PLB1-
-
-
-
3Gain-
PLCB1-
-
-
-
1Loss-
PLCB2-
-
-
-
1Loss-
PLCB4-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCXD3-
-
-
-
3Gain-
PLD4-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLECp.E2497T
p.E2387D
Missense
Missense
DNP
SNP
0.452
0.439
2--
PLEK-
-
-
-
3Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHD1-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
6Amp-
PLEKHH1-
-
-
-
1Loss-
PLEKHH2-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLIN1-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PM20D1-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMAIP1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PML-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNISR-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNO1-
-
-
-
3Gain-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPT1-
-
-
-
3Gain-
PNRC1-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
POFUT1-
-
-
-
12Amp-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD2-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLE4-
-
-
-
3Gain-
POLG-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLM-
-
-
-
1Loss-
POLR2M-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3F-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POM121L12-
-
-
-
1Loss-
POMC-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMKp.P322T
Missense
SNP
1.000
1Loss-
POMT2-
-
-
-
1Loss-
POP1-
-
-
-
1Loss-
POPDC3-
-
-
-
1Loss-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU3F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPIA-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1B-
-
-
-
3Gain-
PPM1G-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1CB-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R2p.Q190E
Missense
SNP
0.505
2--
PPP1R21-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R1-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R3B-
-
-
-
3Gain-
PPP4R4-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC3-
-
-
-
3Gain-
PRADC1-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRDM1-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PREB-
-
-
-
3Gain-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELP-
-
-
-
3Gain-
PREP-
-
-
-
1Loss-
PREPL-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
3Gain-
PRKAA1-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCE-
-
-
-
3Gain-
PRKCH-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKD3-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT5-
-
-
-
1Loss-
PRND-
-
-
-
1Loss-
PRNP-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR1-
-
-
-
3Gain-
PROKR2-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROX2-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF39-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR30-
-
-
-
3Gain-
PRR7-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRC2C-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRTG-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSMA2-
-
-
-
1Loss-
PSMA3-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMA8-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSME4-
-
-
-
3Gain-
PSMF1-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTBP3p.A417E
Missense
SNP
1.000
2--
PTCD2-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGR2-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTK2B-
-
-
-
1Loss-
PTP4A2-
-
-
-
2-PTP4A2--CKAP4
PTPN14-
-
-
-
3Gain-
PTPN21-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
1Loss-
PTPRC-
-
-
-
3Gain-
PTPRG-
-
-
-
1Loss-
PTPRK-
-
-
-
1Loss-
PTRHD1-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PUM2-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS10-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PXDN-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYGB-
-
-
-
1Loss-
PYGL-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QARS-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QPCT-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
R3HCC1-
-
-
-
1Loss-
RAB10-
-
-
-
3Gain-
RAB11A-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP5-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
1Loss-
RAB1A-
-
-
-
3Gain-
RAB24-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB2B-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB8B-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABIF-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD21L1-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51AP2-
-
-
-
3Gain-
RAD51B-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RAI2p.I402N
Missense
SNP
0.489
NDND-
RALA-
-
-
-
1Loss-
RALGAPA1-
-
-
-
1Loss-
RALGAPA2-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RAMACL-
-
-
-
1Loss-
RAMP3-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASGEF1C-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP3-
-
-
-
3Gain-
RASL12-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF2-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RAX-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8p.L416V
Missense
SNP
0.457
2--
RBBP9-
-
-
-
1Loss-
RBCK1-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBKS-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RBPMS2-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCCD1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH14-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REL-
-
-
-
3Gain-
RELCH-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
REM1-
-
-
-
9Amp-
REM2-
-
-
-
1Loss-
REN-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RETREG1-
-
-
-
3Gain-
REV3L-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RGAG4p.D422G
Missense
SNP
0.503
NDND-
RGL1-
-
-
-
3Gain-
RGMA-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHCG-
-
-
-
1Loss-
RHEX-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOB-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOQ-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RIDA-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIN2-
-
-
-
1Loss-
RIN3-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMDN2-
-
-
-
3Gain-
RMDN3-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH1-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RNASET2-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF130-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF144A-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF212B-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF217-
-
-
-
1Loss-
RNF24-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK2-
-
-
-
3Gain-
ROPN1L-
-
-
-
3Gain-
RORA-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
1Loss-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAP1-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL30-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPLP1-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS12-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS27A-
-
-
-
3Gain-
RPS27L-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KA6p.G21A
Missense
SNP
0.496
NDND-
RPS6KC1-
-
-
-
3Gain-
RPS6KL1-
-
-
-
1Loss-
RPS7-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RRBP1-
-
-
-
1Loss-
RREB1p.A1514S
Missense
SNP
0.448
2--
RRM2-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP9-
-
-
-
1Loss-
RSAD2-
-
-
-
3Gain-
RSL24D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RSPO4-
-
-
-
1Loss-
RTF1-
-
-
-
1Loss-
RTKN-
-
-
-
3Gain-
RTL1-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN4-
-
-
-
3Gain-
RTN4IP1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RWDD1-
-
-
-
1Loss-
RWDD4-
-
-
-
3Gain-
RXFP3-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRAp.S427F
Missense
SNP
1.000
2--
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYR2-
-
-
-
3Gain-
RYR3-
-
-
-
1Loss-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100Z-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMD3-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCFD1-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCML4-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCP2D1-
-
-
-
1Loss-
SCRN1-
-
-
-
3Gain-
SCRT2-
-
-
-
1Loss-
SCYL3-
-
-
-
3Gain-
SDC1-
-
-
-
3Gain-
SDCBP2-
-
-
-
1Loss-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHA-
-
-
-
6Amp-
SDHC-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC23B-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC61G-
-
-
-
1Loss-
SEC63-
-
-
-
1Loss-
SECISBP2L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOI-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOP-
-
-
-
3Gain-
SELENOS-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
1Loss-
SEMA4F-
-
-
-
3Gain-
SEMA5A-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPT14-
-
-
-
1Loss-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERTAD2-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SESN1-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SF3B6-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFT2D1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTA3-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SFXN5-
-
-
-
3Gain-
SGCD-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BP5Lp.G285R
Missense
SNP
0.387
3Gain-
SH3GL3-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SH3YL1-
-
-
-
3Gain-
SHC1-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD1-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIGLEC1-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIM2-
-
-
-
3Gain-
SIMC1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRPA-
-
-
-
1Loss-
SIRPB1-
-
-
-
1Loss-
SIRPB2-
-
-
-
1Loss-
SIRPD-
-
-
-
1Loss-
SIRPG-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX2-
-
-
-
3Gain-
SIX3-
-
-
-
3Gain-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKAP2-
-
-
-
3Gain-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A1-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A6-
-
-
-
1Loss-
SLC12A7-
-
-
-
6Amp-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A3-
-
-
-
3Gain-
SLC1A4-
-
-
-
3Gain-
SLC20A2-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A2-
-
-
-
1Loss-
SLC24A1-
-
-
-
1Loss-
SLC24A3-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A4-
-
-
-
3Gain-
SLC25A44-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC26A9-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A3-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A6-
-
-
-
3Gain-
SLC34A1-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35D3-
-
-
-
1Loss-
SLC35F1-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
1Loss-
SLC35F6-
-
-
-
3Gain-
SLC35G5-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC3A1-
-
-
-
3Gain-
SLC41A1-
-
-
-
3Gain-
SLC45A2-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC4A11-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
3Gain-
SLC4A5-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC52A3-
-
-
-
1Loss-
SLC5A6-
-
-
-
3Gain-
SLC6A18-
-
-
-
6Amp-
SLC6A19-
-
-
-
6Amp-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
6Amp-
SLC6A7-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A1-
-
-
-
3Gain-
SLC8A3-
-
-
-
1Loss-
SLC9A3-
-
-
-
6Amp-
SLC9C2-
-
-
-
3Gain-
SLCO3A1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLIRP-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLTM-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLX4IP-
-
-
-
1Loss-
SMAD2p.E189*
Nonsense
SNP
1.000
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMC6-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMIM15-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM26-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMOX-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SMYD5-
-
-
-
3Gain-
SNAI1p.R264L
Missense
SNP
0.486
2--
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC1-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNPH-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP27-
-
-
-
3Gain-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
1Loss-
SNRPB2-
-
-
-
1Loss-
SNRPE-
-
-
-
3Gain-
SNRPG-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNTG2-
-
-
-
3Gain-
SNTN-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX17-
-
-
-
3Gain-
SNX18-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX22-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX3-
-
-
-
1Loss-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
1Loss-
SNX6-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SNX9-
-
-
-
1Loss-
SOAT1-
-
-
-
3Gain-
SOBP-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS5-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SOS1-
-
-
-
3Gain-
SOS2-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOX11-
-
-
-
3Gain-
SOX12-
-
-
-
1Loss-
SOX13-
-
-
-
3Gain-
SOX30-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPACA1-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPARC-
-
-
-
1Loss-
SPAST-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA24-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYA-
-
-
-
3Gain-
SPEF1-
-
-
-
1Loss-
SPEF2-
-
-
-
3Gain-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPICE1p.Q602E
Missense
SNP
0.375
2--
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPR-
-
-
-
3Gain-
SPRED1-
-
-
-
1Loss-
SPRED2-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY4-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTB-
-
-
-
1Loss-
SPTBN1-
-
-
-
3Gain-
SPTBN5-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTLC3-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRBD1-
-
-
-
3Gain-
SRD5A1-
-
-
-
3Gain-
SRD5A2-
-
-
-
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRSF12-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SRSF7-
-
-
-
3Gain-
SRXN1-
-
-
-
1Loss-
SS18-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSTR1-
-
-
-
1Loss-
SSTR4-
-
-
-
1Loss-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
3Gain-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAMBP-
-
-
-
3Gain-
STAP1-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STIMATE-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK17A-
-
-
-
1Loss-
STK19p.D206Y
Missense
SNP
0.410
2--
STK3-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK35-
-
-
-
1Loss-
STMN4-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STON1-
-
-
-
3Gain-
STON1-GTF2A1L-
-
-
-
3Gain-
STON2-
-
-
-
1Loss-
STOX2-
-
-
-
3Gain-
STPG4-
-
-
-
3Gain-
STRA6-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRN-
-
-
-
3Gain-
STRN3-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX11-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
SUB1-
-
-
-
3Gain-
SUCLG2-
-
-
-
1Loss-
SUCNR1p.V271D
Missense
SNP
0.453
2--
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT6B1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPT7L-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYNDIG1-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNE1-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT16-
-
-
-
1Loss-
SYT2-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
SYTL1-
-
-
-
3Gain-
SYTL3-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TACR1-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TAF12p.R49H
Missense
SNP
0.513
2--
TAF1A-
-
-
-
3Gain-
TAF1B-
-
-
-
3Gain-
TAF4B-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS2R1-
-
-
-
3Gain-
TASP1-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D20-
-
-
-
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D32-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCE-
-
-
-
3Gain-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG4-
-
-
-
1Loss-
TBX18p.X335_splice
Splice_Site
SNP
0.303
2--
TBX19-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBXT-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
1Loss-
TCF21-
-
-
-
1Loss-
TCF23-
-
-
-
3Gain-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTE3-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD15-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TENM2-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TEP1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERT-
-
-
-
6Amp-
TET2p.H434Y
Missense
SNP
0.512
2--
TET3-
-
-
-
3Gain-
TEX15-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX261-
-
-
-
3Gain-
TEX264-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TFB1M-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TGp.I261F
Missense
SNP
0.536
2--
TGFA-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFB3-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGM3-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
THADA-
-
-
-
3Gain-
THAP1-
-
-
-
1Loss-
THAP10-
-
-
-
1Loss-
THBD-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THTPA-
-
-
-
1Loss-
THUMPD2-
-
-
-
3Gain-
TIA1-
-
-
-
3Gain-
TIAM2-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM17Bp.S82Y
Missense
SNP
0.459
NDND-
TIMM21-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPIN-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TJP1-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLE3-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLR9-
-
-
-
1Loss-
TLX2p.A98E
Missense
SNP
0.621
3Gain-
TLX3-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM2D3-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF4-
-
-
-
12Amp-
TMA7-
-
-
-
1Loss-
TMC2-
-
-
-
1Loss-
TMC3-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO5A-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMED4-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM17-
-
-
-
3Gain-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM178A-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM18-
-
-
-
3Gain-
TMEM181p.S226C
Missense
SNP
1.000
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM189p.R245H
Missense
SNP
0.532
2--
TMEM196-
-
-
-
3Gain-
TMEM200A-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM214-
-
-
-
3Gain-
TMEM222-
-
-
-
3Gain-
TMEM229B-
-
-
-
1Loss-
TMEM230-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM239-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
1Loss-
TMEM247-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM30B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM44p.Q84P
Missense
SNP
0.486
2--
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM74B-
-
-
-
1Loss-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM87A-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMLHEp.I146M
Missense
SNP
0.449
NDND-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMX1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC1-
-
-
-
1Loss-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNPO1-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNS3-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOGARAM2-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM20L-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53p.G105C
Missense
SNP
1.000
2--
TP53BP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53I3-
-
-
-
3Gain-
TPD52L1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPM1-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPO-
-
-
-
3Gain-
TPP1p.Q117E
Missense
SNP
0.485
2--
TPPP-
-
-
-
6Amp-
TPPP2-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRKB-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRAF3-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
3Gain-
TRAPPC12-
-
-
-
3Gain-
TRAPPC13-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRDN-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRIB2-
-
-
-
3Gain-
TRIB3-
-
-
-
1Loss-
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM23-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM5p.P479T
Missense
SNP
0.508
2--
TRIM52-
-
-
-
1Loss-
TRIM54-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIP11-
-
-
-
1Loss-
TRIP13-
-
-
-
6Amp-
TRIP4-
-
-
-
1Loss-
TRMT11-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT5-
-
-
-
1Loss-
TRMT6p.Y411C
Missense
SNP
0.588
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMT61B-
-
-
-
3Gain-
TRMT9B-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPC7-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPEARp.Q60*
Nonsense
SNP
0.542
2--
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSPYL6-
-
-
-
3Gain-
TSSK1B-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TSTD3-
-
-
-
1Loss-
TTBK2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC21A-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC27-
-
-
-
3Gain-
TTC31-
-
-
-
3Gain-
TTC32-
-
-
-
3Gain-
TTC33-
-
-
-
3Gain-
TTC37-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7A-
-
-
-
3Gain-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTNp.E12050K
Missense
SNP
0.502
2--
TTR-
-
-
-
1Loss-
TTYH3-
-
-
-
3Gain-
TUBE1-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP4-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXLNB-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4A-
-
-
-
1Loss-
TYRO3-
-
-
-
1Loss-
TYSND1p.R201P
Missense
SNP
0.490
2--
UACA-
-
-
-
1Loss-
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAP1L-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2QL1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBOX5-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN2p.A357T
Missense
SNP
0.519
NDND-
UBQLN4-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR7-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBXN2A-
-
-
-
3Gain-
UBXN4p.S130L
Missense
SNP
0.429
2--
UBXN8-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCN-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFL1-
-
-
-
1Loss-
UGP2-
-
-
-
3Gain-
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-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UIMC1-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UNC13Cp.T1899I
Missense
SNP
1.000
1Loss-
UNC45A-
-
-
-
1Loss-
UNC5A-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UPP1-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
1Loss-
URGCP-MRPS24-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH2A-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP3-
-
-
-
1Loss-
USP34-
-
-
-
3Gain-
USP4-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP45-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTRN-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2p.K473N
Missense
SNP
0.197
3Gain-
VASH1-
-
-
-
1Loss-
VASH2-
-
-
-
3Gain-
VAX2-
-
-
-
3Gain-
VCAN-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VGLL2-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VILL-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIT-
-
-
-
3Gain-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VOPP1-
-
-
-
1Loss-
VPS13C-
-
-
-
1Loss-
VPS16-
-
-
-
1Loss-
VPS18-
-
-
-
1Loss-
VPS33B-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS52p.S298P
Missense
SNP
0.566
2--
VPS54-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VRK1-
-
-
-
1Loss-
VRK2-
-
-
-
3Gain-
VRTN-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSNL1-
-
-
-
3Gain-
VSTM1p.N64Y
Missense
SNP
0.510
2--
VSTM2A-
-
-
-
1Loss-
VSX1-
-
-
-
1Loss-
VSX2-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWC2-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
WARS-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASF2-
-
-
-
3Gain-
WBP1-
-
-
-
3Gain-
WDCP-
-
-
-
3Gain-
WDHD1-
-
-
-
1Loss-
WDPCP-
-
-
-
3Gain-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR27-
-
-
-
1Loss-
WDR35-
-
-
-
3Gain-
WDR36-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR43-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR54-
-
-
-
3Gain-
WDR55-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR64-
-
-
-
3Gain-
WDR7-
-
-
-
3Gain-
WDR70p.G419V
Missense
SNP
0.710
3Gain-
WDR72-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR75-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WDR92-
-
-
-
3Gain-
WDR93-
-
-
-
1Loss-
WHAMM-
-
-
-
1Loss-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP3-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT5Bp.C349W
Missense
SNP
0.440
2--
WNT8A-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRN-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XDH-
-
-
-
3Gain-
XIRP1-
-
-
-
1Loss-
XIRP2p.T1498N
Missense
SNP
0.467
2--
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR7-
-
-
-
12Amp-
XPO1-
-
-
-
3Gain-
XPO7-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRN2-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
1Loss-
YIPF4-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YKT6-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YPEL5-
-
-
-
3Gain-
YTHDC1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YWHAQ-
-
-
-
3Gain-
YY1-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z84488.2-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBTB1-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB24-
-
-
-
1Loss-
ZBTB25-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB7B-
-
-
-
5Amp-
ZBTB7C-
-
-
-
1Loss-
ZC2HC1B-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H12D-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZCCHC10-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC3-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
6Amp-
ZDHHC11B-
-
-
-
6Amp-
ZDHHC14-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP36L2-
-
-
-
3Gain-
ZFP62-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFYVE1-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMIZ2-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF112p.Q597E
Missense
SNP
0.455
2--
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF133-
-
-
-
1Loss-
ZNF138-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF273-
-
-
-
3Gain-
ZNF280D-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF292-
-
-
-
1Loss-
ZNF300-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF337-
-
-
-
1Loss-
ZNF343-
-
-
-
1Loss-
ZNF346-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF496-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF512-
-
-
-
3Gain-
ZNF513-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF521-
-
-
-
3Gain-
ZNF532-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
3Gain-
ZNF638-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF704p.D244Y
Missense
SNP
0.528
2--
ZNF710-
-
-
-
1Loss-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF770-
-
-
-
1Loss-
ZNF774-
-
-
-
1Loss-
ZNF831p.D1002Y
Missense
SNP
0.441
2--
ZNF839-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
1Loss-
ZNF879-
-
-
-
1Loss-
ZNF92-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZUP1-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZYG11Ap.T115A
Missense
SNP
0.472
2--