PDMR-839793~233-R4~JXTJN7N13-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AAGAB-
-
-
-
1Loss-
AAMP-
-
-
-
3Gain-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AARS2-
-
-
-
1Loss-
ABCA12-
-
-
-
3Gain-
ABCA2p.R216H
Missense
SNP
0.477
2--
ABCA3-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB6-
-
-
-
3Gain-
ABCC1-
-
-
-
1Loss-
ABCC10-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC6-
-
-
-
1Loss-
ABCF1-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD12-
-
-
-
3Gain-
ABHD16A-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD17C-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABI2-
-
-
-
3GainGGCX--ABI2
ABRA-
-
-
-
3Gain-
ABRACL-
-
-
-
1Loss-
ABT1-
-
-
-
1Loss-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004754.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005779.2-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007240.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008073.3-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010323.1-
-
-
-
1Loss-
AC010326.2-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC024592.3-
-
-
-
1Loss-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068547.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC068946.1-
-
-
-
3Gain-
AC068946.2-
-
-
-
3Gain-
AC069368.1-
-
-
-
1Loss-
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-
AC092073.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104151.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC106886.5-
-
-
-
1Loss-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120114.4-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC131097.2-
-
-
-
3Gain-
AC134980.3-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
4Gain-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC140504.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
5Amp-
AC243547.3-
-
-
-
5Amp-
AC245033.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACADL-
-
-
-
3Gain-
ACAN-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACKR3-
-
-
-
3Gain-
ACMSD-
-
-
-
3Gain-
ACO1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
3Gain-
ACP6-
-
-
-
5Amp-
ACSBG1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL3-
-
-
-
3Gain-
ACSM1-
-
-
-
1Loss-
ACSM2A-
-
-
-
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACTC1-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTR5-
-
-
-
3Gain-
ACTRT2-
-
-
-
1Loss-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM17-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM23-
-
-
-
3Gain-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS17-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS5-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADARB1-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK5-
-
-
-
4Gain-
ADCY3-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCY8-
-
-
-
3Gain-
ADCY9-
-
-
-
1Loss-
ADCYAP1-
-
-
-
3Gain-
ADGB-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRB2-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRF1-
-
-
-
1Loss-
ADGRF2-
-
-
-
1Loss-
ADGRF3-
-
-
-
1Loss-
ADGRF4-
-
-
-
1Loss-
ADGRF5-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
ADTRP-
-
-
-
1Loss-
AEN-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AFG3L2-
-
-
-
3Gain-
AGAP1-
-
-
-
3Gain-
AGBL1-
-
-
-
1Loss-
AGBL5-
-
-
-
1Loss-
AGER-
-
-
-
1Loss-
AGFG1-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPAT1-
-
-
-
1Loss-
AGPAT3-
-
-
-
1Loss-
AGPAT4-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AGXT-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHDC1-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AHSP-
-
-
-
1Loss-
AIF1-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AJAP1-
-
-
-
1Loss-
AK2-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAIN1-
-
-
-
3Gain-
AKAP12-
-
-
-
1Loss-
AKAP13-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIRIN2-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL021997.3-
-
-
-
1Loss-
AL024498.2-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049697.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL096814.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL132671.2-
-
-
-
1Loss-
AL136531.2-
-
-
-
3Gain-
AL159163.1-
-
-
-
1Loss-
AL160269.1-
-
-
-
1Loss-
AL353588.1-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL365205.1-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
1Loss-
AL645941.2-
-
-
-
1Loss-
AL662884.4-
-
-
-
1Loss-
AL662899.1-
-
-
-
1Loss-
AL662899.2-
-
-
-
1Loss-
AL669918.1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH5A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDOA-
-
-
-
1Loss-
ALK-
-
-
-
1Loss-
ALKAL1-
-
-
-
3Gain-
ALKBH7-
-
-
-
1Loss-
ALPG-
-
-
-
3Gain-
ALPI-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALPP-
-
-
-
3Gain-
ALS2-
-
-
-
3Gain-
ALS2CR12-
-
-
-
3Gain-
AMD1-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMER3-
-
-
-
3Gain-
AMH-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPT4-
-
-
-
3Gain-
ANGPTL4-
-
-
-
1Loss-
ANGPTL7-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKAR-
-
-
-
3Gain-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKMY1-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD24-
-
-
-
1Loss-
ANKRD27-
-
-
-
1Loss-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD30BL-
-
-
-
3Gain-
ANKRD31-
-
-
-
1Loss-
ANKRD34A-
-
-
-
5Amp-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
5Amp-
ANKRD44-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD6-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKRD63-
-
-
-
1Loss-
ANKRD66-
-
-
-
1Loss-
ANKS1A-
-
-
-
1Loss-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKZF1-
-
-
-
3Gain-
ANO7-
-
-
-
3Gain-
ANP32A-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOX1-
-
-
-
3Gain-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP1S3-
-
-
-
3Gain-
AP2S1-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APCp.Q1367H
Missense
SNP
0.538
2--
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
3Gain-
APCDD1L-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
1Loss-
APLFp.P56L
Missense
SNP
0.321
2--
APMAP-
-
-
-
3Gain-
APOB-
-
-
-
1Loss-
APOBEC2-
-
-
-
1Loss-
APOBR-
-
-
-
1Loss-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APOM-
-
-
-
1Loss-
APP-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP12A-
-
-
-
3Gain-
AQP12B-
-
-
-
3Gain-
AQP4-
-
-
-
3Gain-
AQP8-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARFGAP1-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP17-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP28-
-
-
-
3Gain-
ARHGAP35-
-
-
-
1Loss-
ARHGAP39-
-
-
-
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP45-
-
-
-
1Loss-
ARHGDIG-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF33-
-
-
-
1Loss-
ARHGEF4-
-
-
-
3Gain-
ARID1A-
-
-
-
1Loss-
ARID1Bp.R1926*
Nonsense
SNP
0.971
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARL4C-
-
-
-
3Gain-
ARL5A-
-
-
-
1Loss-
ARL6IP1-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC12-
-
-
-
1Loss-
ARMC2-
-
-
-
1Loss-
ARMC5-
-
-
-
1Loss-
ARMC9-
-
-
-
3Gain-
ARMH2-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARPC2-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASAP2-
-
-
-
1Loss-
ASAP3-
-
-
-
1Loss-
ASB1-
-
-
-
3Gain-
ASB18-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC4-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASNSD1-
-
-
-
3Gain-
ASPH-
-
-
-
3Gain-
ASPHD1-
-
-
-
1Loss-
ASXL1-
-
-
-
3Gain-
ASXL2-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ATAD2-
-
-
-
3Gain-
ATAD2B-
-
-
-
1Loss-
ATAT1-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATF6B-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG16L1-
-
-
-
3Gain-
ATG4B-
-
-
-
3Gain-
ATG5-
-
-
-
1Loss-
ATG9A-
-
-
-
3Gain-
ATIC-
-
-
-
3Gain-
ATL2-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP2A1-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1C2-
-
-
-
1Loss-
ATP6V1G2-
-
-
-
1Loss-
ATP6V1G2-DDX39B-
-
-
-
1Loss-
ATP6V1H-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATRAID-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN1-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
AUNIP-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AVP-
-
-
-
3Gain-
AXIN1-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
AZIN2-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALT4-
-
-
-
1Loss-
B3GALT5-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GNT7-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GALT6-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BABAM2-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG2-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG6-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAK1-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BANP-
-
-
-
1Loss-
BARD1-
-
-
-
3Gain-
BAZ2B-
-
-
-
1Loss-
BBC3-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BCAM-
-
-
-
1Loss-
BCAR1-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCKDHB-
-
-
-
1Loss-
BCKDK-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L10-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL7C-
-
-
-
1Loss-
BCL9-
-
-
-
5Amp-
BCLAF1-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BCS1L-
-
-
-
3Gain-
BDP1-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BEND6-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICDL2-
-
-
-
1Loss-
BICRA-
-
-
-
3Gain-
BICRAL-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC6-
-
-
-
1Loss-
BIRC7-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLM-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP2-
-
-
-
3Gain-
BMP5-
-
-
-
1Loss-
BMP6-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMPR2-
-
-
-
3Gain-
BNC1-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
3Gain-
BOLA1-
-
-
-
5Amp-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BOLL-
-
-
-
3Gain-
BOP1-
-
-
-
4Gain-
BPHL-
-
-
-
1Loss-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BRD2-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRPF3-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSDC1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD9-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG3-
-
-
-
1Loss-
BTN1A1-
-
-
-
1Loss-
BTN2A1-
-
-
-
1Loss-
BTN2A2-
-
-
-
1Loss-
BTN3A1-
-
-
-
1Loss-
BTN3A2-
-
-
-
1Loss-
BTN3A3-
-
-
-
1Loss-
BTNL2-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
BYSL-
-
-
-
1Loss-
BZW1-
-
-
-
3Gain-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C16orf45-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf54-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C2-
-
-
-
1Loss-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
3Gain-
C2orf16-
-
-
-
1Loss-
C2orf50-
-
-
-
1Loss-
C2orf66-
-
-
-
3Gain-
C2orf69-
-
-
-
3Gain-
C2orf70-
-
-
-
1Loss-
C2orf72-
-
-
-
3Gain-
C2orf80-
-
-
-
3Gain-
C2orf83-
-
-
-
3Gain-
C2orf88-
-
-
-
3Gain-
C3-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C6orf10-
-
-
-
1Loss-
C6orf106-
-
-
-
1Loss-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf132-
-
-
-
1Loss-
C6orf136-
-
-
-
1Loss-
C6orf141-
-
-
-
1Loss-
C6orf15-
-
-
-
1Loss-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf222-
-
-
-
1Loss-
C6orf223-
-
-
-
1Loss-
C6orf226-
-
-
-
1Loss-
C6orf47-
-
-
-
1Loss-
C6orf48-
-
-
-
1Loss-
C6orf52-
-
-
-
1Loss-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
1Loss-
C6orf89-
-
-
-
1Loss-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf3-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CA13-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CAAP1-
-
-
-
1Loss-
CAB39-
-
-
-
3Gain-
CABCOCO1-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNB4-
-
-
-
1Loss-
CACNG3-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CAD-
-
-
-
1Loss-
CADM4-
-
-
-
1Loss-
CAGE1-
-
-
-
1Loss-
CALB1-
-
-
-
3Gain-
CALB2-
-
-
-
3Gain-
CALCRL-
-
-
-
3Gain-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALML4-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAP2-
-
-
-
1Loss-
CAPN10-
-
-
-
3Gain-
CAPN11-
-
-
-
1Loss-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPN3-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
3Gain-
CARF-
-
-
-
3Gain-
CARMIL1-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP10-
-
-
-
3Gain-
CASP8-
-
-
-
3Gain-
CASP8AP2-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASS4-
-
-
-
3Gain-
CASZ1-
-
-
-
1Loss-
CATIP-
-
-
-
3Gain-
CATSPER2-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CAVIN2-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBLC-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC115-
-
-
-
3Gain-
CCDC121-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC140-
-
-
-
3Gain-
CCDC148-
-
-
-
1Loss-
CCDC150-
-
-
-
3Gain-
CCDC166-
-
-
-
4Gain-
CCDC167-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC189-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC27-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC28B-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC74A-
-
-
-
3Gain-
CCDC74B-
-
-
-
3Gain-
CCDC8-
-
-
-
1Loss-
CCDC9-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCHCR1-
-
-
-
1Loss-
CCL20-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCM2L-
-
-
-
3Gain-
CCNB1-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCND3-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNF-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNT2-
-
-
-
3Gain-
CCNYL1-
-
-
-
3Gain-
CCP110-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR6-
-
-
-
1Loss-
CCT8-
-
-
-
1Loss-
CD109-
-
-
-
1Loss-
CD160-
-
-
-
5Amp-
CD164-
-
-
-
1Loss-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD19-
-
-
-
1Loss-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD28-
-
-
-
3Gain-
CD2AP-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD302-
-
-
-
1Loss-
CD320-
-
-
-
1Loss-
CD33-
-
-
-
1Loss-
CD3EAP-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD83-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CDA-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC14B-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC34-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42EP1-
-
-
-
3Gain-
CDC42EP3-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC5L-
-
-
-
1Loss-
CDCA2p.V514I
Missense
SNP
1.000
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH17-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK15-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK5R2-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDKAL1-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN1A-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDR2-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDSN-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CEBPG-
-
-
-
1Loss-
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CENPA-
-
-
-
1Loss-
CENPB-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPO-
-
-
-
1Loss-
CENPQ-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP120p.T187I
Missense
SNP
0.529
2--
CEP152-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP192-
-
-
-
3Gain-
CEP250-
-
-
-
3Gain-
CEP57L1-
-
-
-
1Loss-
CEP76-
-
-
-
3Gain-
CEP78-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP410-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP65-
-
-
-
3Gain-
CFB-
-
-
-
1Loss-
CFC1-
-
-
-
3Gain-
CFC1B-
-
-
-
3Gain-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFLAR-
-
-
-
3Gain-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CGREF1-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHCHD7-
-
-
-
3Gain-
CHD1L-
-
-
-
5Amp-
CHD2-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHEK2p.I157T
Missense
SNP
0.491
2--
CHGB-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
3Gain-
CHMP2A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHODL-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHP2-
-
-
-
1Loss-
CHPF-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHRND-
-
-
-
3Gain-
CHRNG-
-
-
-
3Gain-
CHST14-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST8-
-
-
-
1Loss-
CHST9-
-
-
-
3Gain-
CHSY1-
-
-
-
1Loss-
CIAO2A-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIB4-
-
-
-
1Loss-
CIDEA-
-
-
-
3Gain-
CILP-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN20-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN6-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLDND2-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC19A-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLIC1-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIC5-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLIP4-
-
-
-
1Loss-
CLK1-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLN3-
-
-
-
1Loss-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPS-
-
-
-
1Loss-
CLPSL1-
-
-
-
1Loss-
CLPSL2-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLPX-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CLVS2-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTR1-
-
-
-
1Loss-
CMTR2-
-
-
-
3Gain-
CMYA5-
-
-
-
1Loss-
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT9-
-
-
-
3Gain-
CNPPD1-
-
-
-
3Gain-
CNPY3-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTNAP4-
-
-
-
1Loss-
COG7-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A2-
-
-
-
1Loss-
COL12A1-
-
-
-
1Loss-
COL14A1-
-
-
-
3Gain-
COL16A1-
-
-
-
1Loss-
COL18A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL20A1-
-
-
-
3Gain-
COL21A1-
-
-
-
1Loss-
COL22A1-
-
-
-
3Gain-
COL3A1-
-
-
-
3Gain-
COL4A3-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL6A3-
-
-
-
3Gain-
COL9A1-
-
-
-
1Loss-
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLEC12-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS7B-
-
-
-
3Gain-
COPS8-
-
-
-
3Gain-
COPS9-
-
-
-
3Gain-
COQ10B-
-
-
-
3Gain-
COQ3-
-
-
-
1Loss-
COQ7-
-
-
-
1Loss-
CORO1A-
-
-
-
1Loss-
CORO2B-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX4I2-
-
-
-
3Gain-
COX5A-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
CPA6-
-
-
-
3Gain-
CPEB1-
-
-
-
1Loss-
CPLANE2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE5-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPO-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPS1-
-
-
-
3Gain-
CPSF1-
-
-
-
4Gain-
CPSF3-
-
-
-
1Loss-
CPXM1-
-
-
-
3Gain-
CRABP1-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CREB1-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRIM1-
-
-
-
1Loss-
CRIP3-
-
-
-
1Loss-
CRISP1-
-
-
-
1Loss-
CRISP2-
-
-
-
1Loss-
CRISP3-
-
-
-
1Loss-
CRISPLD1-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRNN-
-
-
-
4Gain-
CROCC-
-
-
-
1Loss-
CROCC2-
-
-
-
3Gain-
CRTC3-
-
-
-
1Loss-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA2-
-
-
-
3Gain-
CRYBG1-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYGA-
-
-
-
3Gain-
CRYGB-
-
-
-
3Gain-
CRYGC-
-
-
-
3Gain-
CRYGD-
-
-
-
3Gain-
CRYM-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSGALNACT1-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSMD3-
-
-
-
4Gain-
CSNK1G1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2B-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTB-
-
-
-
1Loss-
CSTF1-
-
-
-
3Gain-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
3Gain-
CTDSPL2-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
3Gain-
CTNNA3-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CUL3p.T483M
Missense
SNP
0.581
3Gain-
CUL7-
-
-
-
1Loss-
CUL9-
-
-
-
1Loss-
CUTA-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCR1-
-
-
-
3Gain-
CXCR2-
-
-
-
3Gain-
CXCR4-
-
-
-
3Gain-
CXXC1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYC1-
-
-
-
4Gain-
CYFIP1-
-
-
-
1Loss-
CYHR1-
-
-
-
4Gain-
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP20A1-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP27A1-
-
-
-
3Gain-
CYP39A1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYS1-
-
-
-
1Loss-
CYTIP-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
D2HGDH-
-
-
-
3Gain-
DAAM2-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAPK2-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAPL1-
-
-
-
1Loss-
DARS-
-
-
-
3Gain-
DAW1-
-
-
-
3Gain-
DAXX-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCBLD1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCDC2-
-
-
-
1Loss-
DCDC2B-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCTN5-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DDAH2-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDR1-
-
-
-
1Loss-
DDRGK1-
-
-
-
3Gain-
DDX1-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX39B-
-
-
-
1Loss-
DDX43-
-
-
-
1Loss-
DDX51p.P424L
Missense
SNP
0.473
2--
DDX58-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DECR2-
-
-
-
1Loss-
DEF6-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
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-
DEFB110-
-
-
-
1Loss-
DEFB112-
-
-
-
1Loss-
DEFB113-
-
-
-
1Loss-
DEFB114-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB133-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEK-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
1Loss-
DENND4C-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DES-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGAT1-
-
-
-
4Gain-
DGKD-
-
-
-
3Gain-
DHDDS-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX34-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX57-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIP2A-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRC1-
-
-
-
3Gain-
DIS3L-
-
-
-
1Loss-
DIS3L2-
-
-
-
3Gain-
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLGAP1-
-
-
-
3Gain-
DLGAP2-
-
-
-
1Loss-
DLGAP4-
-
-
-
3Gain-
DLK2-
-
-
-
1Loss-
DLL1-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMWD-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAH3-
-
-
-
1Loss-
DNAH7-
-
-
-
3Gain-
DNAH8-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB2-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC28-
-
-
-
1Loss-
DNAJC5B-
-
-
-
3Gain-
DNAJC5G-
-
-
-
1Loss-
DNAJC8-
-
-
-
1Loss-
DNER-
-
-
-
3Gain-
DNMT3A-
-
-
-
1Loss-
DNMT3B-
-
-
-
3Gain-
DNMT3L-
-
-
-
1Loss-
DNPEP-
-
-
-
3Gain-
DNPH1-
-
-
-
1Loss-
DNTTIP1-
-
-
-
3Gain-
DOC2A-
-
-
-
1Loss-
DOCK10-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPP4-
-
-
-
1Loss-
DPP8-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPPA5-
-
-
-
1Loss-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
3Gain-
DPY30-
-
-
-
1Loss-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL5-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC1-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSCC1-
-
-
-
3Gain-
DSE-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSN1-
-
-
-
3Gain-
DSP-
-
-
-
1Loss-
DST-
-
-
-
1Loss-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTNBP1-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTYMK-
-
-
-
3Gain-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP15-
-
-
-
3Gain-
DUSP22-
-
-
-
1Loss-
DUSP26-
-
-
-
1Loss-
DUSP28-
-
-
-
3Gain-
DUSP4-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DXO-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYTN-
-
-
-
3Gain-
DZANK1-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F2-
-
-
-
1Loss-
E2F3-
-
-
-
1Loss-
E2F5-
-
-
-
3Gain-
E2F6-
-
-
-
1Loss-
EARS2-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
EBF4-
-
-
-
3Gain-
EBI3-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECEL1-
-
-
-
3Gain-
ECHDC1-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECT2L-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
1Loss-
EDN3-
-
-
-
3Gain-
EEF1A1-
-
-
-
1Loss-
EEF1A2-
-
-
-
3Gain-
EEF1B2-
-
-
-
3Gain-
EEF1D-
-
-
-
4Gain-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EFCAB1-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB8-
-
-
-
3Gain-
EFHC1-
-
-
-
1Loss-
EFHD1-
-
-
-
3Gain-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFR3B-
-
-
-
1Loss-
EGFL8-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHD3-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EHMT2-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF2AK2-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B4-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3I-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF4E2-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO2-
-
-
-
3Gain-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOVL2-
-
-
-
1Loss-
ELOVL4-
-
-
-
1Loss-
ELOVL5-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EMILIN2-
-
-
-
3Gain-
EMILIN3-
-
-
-
3Gain-
EML2-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENOSF1-
-
-
-
3Gain-
ENPP1-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENPP3-
-
-
-
1Loss-
ENPP4-
-
-
-
1Loss-
ENPP5-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD4-
-
-
-
1Loss-
ENTPD6-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EPB41-
-
-
-
1Loss-
EPB41L1-
-
-
-
3Gain-
EPB41L2-
-
-
-
1Loss-
EPB41L3-
-
-
-
3Gain-
EPB42-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA2p.R447C
Missense
SNP
1.000
1Loss-
EPHA4-
-
-
-
3Gain-
EPHA7-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHX2-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
4Gain-
EQTN-
-
-
-
1Loss-
ERBB4-
-
-
-
3Gain-
ERBIN-
-
-
-
1Loss-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERFE-
-
-
-
3Gain-
ERG-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERI1-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERLIN2-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMN-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERN2-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERVFRD-1-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESF1-
-
-
-
3Gain-
ESPN-
-
-
-
1Loss-
ESPNL-
-
-
-
3Gain-
ESR1-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ETFA-
-
-
-
1Loss-
ETFB-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETS2-
-
-
-
1Loss-
ETV7-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC2-
-
-
-
1Loss-
EXOC3L2-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC4-
-
-
-
4Gain-
EXT1-
-
-
-
3Gain-
EXTL1-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EYS-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F13A1-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP3-
-
-
-
1Loss-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP7-
-
-
-
1Loss-
FABP9-
-
-
-
3Gain-
FAH-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM110D-
-
-
-
1Loss-
FAM117B-
-
-
-
3Gain-
FAM120B-
-
-
-
1Loss-
FAM124B-
-
-
-
3Gain-
FAM126B-
-
-
-
3Gain-
FAM131C-
-
-
-
1Loss-
FAM135A-
-
-
-
1Loss-
FAM135B-
-
-
-
3Gain-
FAM13C-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM167B-
-
-
-
1Loss-
FAM168B-
-
-
-
3Gain-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM171B-
-
-
-
3Gain-
FAM174B-
-
-
-
1Loss-
FAM184A-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM207A-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM217A-
-
-
-
1Loss-
FAM217B-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM229A-
-
-
-
1Loss-
FAM229B-
-
-
-
1Loss-
FAM234A-
-
-
-
1Loss-
FAM237A-
-
-
-
3Gain-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM49A-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM50B-
-
-
-
1Loss-
FAM57B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM76A-
-
-
-
1Loss-
FAM81A-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83B-
-
-
-
1Loss-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83Hp.G723E
Missense
SNP
0.670
4Gain-
FAM84A-
-
-
-
1Loss-
FAM84B-
-
-
-
3Gain-
FAM8A1-
-
-
-
1Loss-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FAM98A-
-
-
-
1Loss-
FAM98B-
-
-
-
1Loss-
FAM98Cp.E57K
Missense
SNP
0.525
2--
FAN1-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCC-
-
-
-
1Loss-
FANCE-
-
-
-
1Loss-
FANCI-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FARP2-
-
-
-
3Gain-
FARS2-
-
-
-
1Loss-
FARSB-
-
-
-
3Gain-
FASTKD2-
-
-
-
3Gain-
FASTKD5-
-
-
-
3Gain-
FAT4p.E2375D
Missense
SNP
0.226
2--
FAXC-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLN1p.G151R
Missense
SNP
0.518
2--
FBN1-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBP1-
-
-
-
1Loss-
FBP2-
-
-
-
1Loss-
FBRS-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL22-
-
-
-
1Loss-
FBXL4-
-
-
-
1Loss-
FBXL6-
-
-
-
4Gain-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO30-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
3Gain-
FBXO36-
-
-
-
3Gain-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
3Gain-
FBXO44-
-
-
-
1Loss-
FBXO46-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXO6-
-
-
-
1Loss-
FBXO9-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCGR1A-
-
-
-
5Amp-
FCHO2-
-
-
-
1Loss-
FCN3-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FES-
-
-
-
1Loss-
FEV-
-
-
-
3Gain-
FEZ2-
-
-
-
1Loss-
FGD2-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FGR-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHL5-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FILIP1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP1B-
-
-
-
1Loss-
FKBP1C-
-
-
-
1Loss-
FKBP5-
-
-
-
1Loss-
FKBPL-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
4Gain-
FLOT1-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FLRT3-
-
-
-
3Gain-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMN1-
-
-
-
1Loss-
FMN2-
-
-
-
3Gain-
FMNL2-
-
-
-
1Loss-
FMO5-
-
-
-
5Amp-
FN1-
-
-
-
3Gain-
FNDC1-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC4-
-
-
-
1Loss-
FNDC5-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FOCAD-
-
-
-
1Loss-
FOPNL-
-
-
-
1Loss-
FOSB-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXA2-
-
-
-
3Gain-
FOXA3-
-
-
-
1Loss-
FOXB1-
-
-
-
1Loss-
FOXC1-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXH1-
-
-
-
4Gain-
FOXL1-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP4-
-
-
-
1Loss-
FOXQ1-
-
-
-
1Loss-
FOXS1-
-
-
-
3Gain-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRS3-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSD2-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSIP2-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FTCDNL1-
-
-
-
3Gain-
FTO-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZD5-
-
-
-
3Gain-
FZD6-
-
-
-
3Gain-
FZD7-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABBR1-
-
-
-
1Loss-
GABPA-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA5-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
3Gain-
GALE-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT13-
-
-
-
1Loss-
GALNT14-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAREM2-
-
-
-
1Loss-
GART-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBX2-
-
-
-
3Gain-
GCA-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCKR-
-
-
-
1Loss-
GCLC-
-
-
-
1Loss-
GCM1-
-
-
-
1Loss-
GCM2-
-
-
-
1Loss-
GCNT2-
-
-
-
1Loss-
GCNT3-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDE1-
-
-
-
1Loss-
GDF5p.V369M
Missense
SNP
0.335
3Gain-
GDF6-
-
-
-
3Gain-
GDF7-
-
-
-
1Loss-
GDPD3-
-
-
-
1Loss-
GDPGP1-
-
-
-
1Loss-
GEM-
-
-
-
3Gain-
GEMIN6-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GEN1-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFOD1-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFRAL-
-
-
-
1Loss-
GGA1-
-
-
-
3Gain-
GGA2-
-
-
-
1Loss-
GGCX-
-
-
-
2-GGCX--ABI2
GGH-
-
-
-
3Gain-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GHRH-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GIGYF2-
-
-
-
3Gain-
GINM1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA5-
-
-
-
5Amp-
GJA8-
-
-
-
5Amp-
GJB7-
-
-
-
1Loss-
GJD2-
-
-
-
1Loss-
GJE1-
-
-
-
1Loss-
GLB1-
-
-
-
2-RNA5-8SN2--GLB1
GLB1L-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI4-
-
-
-
4Gain-
GLIS2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLO1-
-
-
-
1Loss-
GLP1R-
-
-
-
1Loss-
GLS-
-
-
-
3Gain-
GLYATL3-
-
-
-
1Loss-
GMDS-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GMNN-
-
-
-
1Loss-
GMPPA-
-
-
-
3Gain-
GMPR-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA14-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAL-
-
-
-
3Gain-
GNAQ-
-
-
-
1Loss-
GNAS-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNL1-
-
-
-
1Loss-
GNMT-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GNRH2-
-
-
-
3Gain-
GOLGA6B-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOPC-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GP2-
-
-
-
1Loss-
GPAA1-
-
-
-
4Gain-
GPANK1-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPATCH3-
-
-
-
1Loss-
GPBAR1-
-
-
-
3Gain-
GPC1-
-
-
-
3Gain-
GPCPD1-
-
-
-
3Gain-
GPD2-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPIHBP1-
-
-
-
4Gain-
GPLD1-
-
-
-
1Loss-
GPN1-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPR1-
-
-
-
3Gain-
GPR108-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR139-
-
-
-
1Loss-
GPR148-
-
-
-
3Gain-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR176-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR3-
-
-
-
1Loss-
GPR31-
-
-
-
1Loss-
GPR35-
-
-
-
3Gain-
GPR39-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR55-
-
-
-
3Gain-
GPR6-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR89A-
-
-
-
5Amp-
GPR89B-
-
-
-
5Amp-
GPRC5A-
-
-
-
2-HNRNPK--GPRC5A
GPRC5B-
-
-
-
1Loss-
GPRC6A-
-
-
-
1Loss-
GPSM3-
-
-
-
1Loss-
GPT-
-
-
-
4Gain-
GPT2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX5-
-
-
-
1Loss-
GPX6-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GREB1-
-
-
-
1Loss-
GREB1L-
-
-
-
3Gain-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHL1-
-
-
-
1Loss-
GRHL2-
-
-
-
3Gain-
GRHL3-
-
-
-
1Loss-
GRIK1-
-
-
-
1Loss-
GRIK2-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
4Gain-
GRM1-
-
-
-
1Loss-
GRM4-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
4Gain-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSS-
-
-
-
3Gain-
GSTA1-
-
-
-
1Loss-
GSTA2-
-
-
-
1Loss-
GSTA3-
-
-
-
1Loss-
GSTA4-
-
-
-
1Loss-
GSTA5-
-
-
-
1Loss-
GTDC1-
-
-
-
1Loss-
GTF2A2-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H4-
-
-
-
1Loss-
GTF2H5-
-
-
-
1Loss-
GTF3C1-
-
-
-
1Loss-
GTF3C2-
-
-
-
1Loss-
GTF3C3-
-
-
-
3Gain-
GTF3C6-
-
-
-
1Loss-
GTPBP2-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCA1A-
-
-
-
1Loss-
GUCA1B-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
GVQW2-
-
-
-
1Loss-
GZF1-
-
-
-
3Gain-
GZMM-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HABP4-
-
-
-
1Loss-
HACD3-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAPLN1-
-
-
-
1Loss-
HAPLN3-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBQ1-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN4-
-
-
-
1Loss-
HCRTR1-
-
-
-
1Loss-
HCRTR2-
-
-
-
1Loss-
HDAC1-
-
-
-
1Loss-
HDAC2-
-
-
-
1Loss-
HDAC4-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDDC2-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGFL1-
-
-
-
1Loss-
HDGFL2-
-
-
-
1Loss-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDLBP-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEATR5B-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECW2-
-
-
-
3Gain-
HELZ2-
-
-
-
3Gain-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HES6-
-
-
-
3Gain-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
1Loss-
HGH1-
-
-
-
4Gain-
HGSNAT-
-
-
-
1Loss-
HHLA1-
-
-
-
3Gain-
HIBCH-
-
-
-
3Gain-
HIF3A-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIRIP3-
-
-
-
1Loss-
HIST1H1A-
-
-
-
1Loss-
HIST1H1B-
-
-
-
1Loss-
HIST1H1C-
-
-
-
1Loss-
HIST1H1D-
-
-
-
1Loss-
HIST1H1E-
-
-
-
1Loss-
HIST1H1T-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2AB-
-
-
-
1Loss-
HIST1H2AC-
-
-
-
1Loss-
HIST1H2AD-
-
-
-
1Loss-
HIST1H2AE-
-
-
-
1Loss-
HIST1H2AG-
-
-
-
1Loss-
HIST1H2AH-
-
-
-
1Loss-
HIST1H2AI-
-
-
-
1Loss-
HIST1H2AJ-
-
-
-
1Loss-
HIST1H2AK-
-
-
-
1Loss-
HIST1H2AL-
-
-
-
1Loss-
HIST1H2AM-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HIST1H2BB-
-
-
-
1Loss-
HIST1H2BC-
-
-
-
1Loss-
HIST1H2BD-
-
-
-
1Loss-
HIST1H2BE-
-
-
-
1Loss-
HIST1H2BF-
-
-
-
1Loss-
HIST1H2BG-
-
-
-
1Loss-
HIST1H2BH-
-
-
-
1Loss-
HIST1H2BI-
-
-
-
1Loss-
HIST1H2BJ-
-
-
-
1Loss-
HIST1H2BK-
-
-
-
1Loss-
HIST1H2BL-
-
-
-
1Loss-
HIST1H2BM-
-
-
-
1Loss-
HIST1H2BN-
-
-
-
1Loss-
HIST1H2BO-
-
-
-
1Loss-
HIST1H3A-
-
-
-
1Loss-
HIST1H3B-
-
-
-
1Loss-
HIST1H3C-
-
-
-
1Loss-
HIST1H3D-
-
-
-
1Loss-
HIST1H3E-
-
-
-
1Loss-
HIST1H3F-
-
-
-
1Loss-
HIST1H3G-
-
-
-
1Loss-
HIST1H3H-
-
-
-
1Loss-
HIST1H3I-
-
-
-
1Loss-
HIST1H3J-
-
-
-
1Loss-
HIST1H4A-
-
-
-
1Loss-
HIST1H4B-
-
-
-
1Loss-
HIST1H4C-
-
-
-
1Loss-
HIST1H4D-
-
-
-
1Loss-
HIST1H4E-
-
-
-
1Loss-
HIST1H4F-
-
-
-
1Loss-
HIST1H4G-
-
-
-
1Loss-
HIST1H4H-
-
-
-
1Loss-
HIST1H4I-
-
-
-
1Loss-
HIST1H4J-
-
-
-
1Loss-
HIST1H4K-
-
-
-
1Loss-
HIST1H4L-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
5Amp-
HIST2H2AA4-
-
-
-
5Amp-
HIST2H2AB-
-
-
-
5Amp-
HIST2H2AC-
-
-
-
5Amp-
HIST2H2BE-
-
-
-
5Amp-
HIST2H2BF-
-
-
-
5Amp-
HIST2H3A-
-
-
-
5Amp-
HIST2H3C-
-
-
-
5Amp-
HIST2H3D-
-
-
-
5Amp-
HIST2H3PS2-
-
-
-
5Amp-
HIST2H4A-
-
-
-
5Amp-
HIST2H4B-
-
-
-
5Amp-
HIVEP1-
-
-
-
1Loss-
HIVEP2-
-
-
-
1Loss-
HJV-
-
-
-
5Amp-
HKR1-
-
-
-
1Loss-
HLA-A-
-
-
-
1Loss-
HLA-B-
-
-
-
1Loss-
HLA-C-
-
-
-
1Loss-
HLA-DMA-
-
-
-
1Loss-
HLA-DMB-
-
-
-
1Loss-
HLA-DOA-
-
-
-
1Loss-
HLA-DOB-
-
-
-
1Loss-
HLA-DPA1-
-
-
-
1Loss-
HLA-DPB1-
-
-
-
1Loss-
HLA-DQA1-
-
-
-
1Loss-
HLA-DQA2-
-
-
-
1Loss-
HLA-DQB1-
-
-
-
1Loss-
HLA-DQB2-
-
-
-
1Loss-
HLA-DRA-
-
-
-
1Loss-
HLA-DRB1-
-
-
-
1Loss-
HLA-DRB5-
-
-
-
1Loss-
HLA-E-
-
-
-
1Loss-
HLA-F-
-
-
-
1Loss-
HLA-G-
-
-
-
1Loss-
HLCS-
-
-
-
1Loss-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMG20A-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGA1-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCLL1-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNMT-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPK-
-
-
-
2-HNRNPK--GPRC5A
HNRNPLL-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HNRNPR-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HP1BP3-
-
-
-
1Loss-
HPCA-
-
-
-
1Loss-
HPCAL1-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS1BP3-
-
-
-
1Loss-
HS3ST2-
-
-
-
1Loss-
HS3ST4-
-
-
-
1Loss-
HS3ST5-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B3-
-
-
-
1Loss-
HSD17B8-
-
-
-
1Loss-
HSD3B7-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
4Gain-
HSF2-
-
-
-
1Loss-
HSF2BP-
-
-
-
1Loss-
HSP90AB1-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA13-
-
-
-
1Loss-
HSPA1A-
-
-
-
1Loss-
HSPA1B-
-
-
-
1Loss-
HSPA1L-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HSPG2-
-
-
-
1LossHSPG2--RNA5-8SN2
HTR1B-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR2B-
-
-
-
3Gain-
HTR6-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HUNK-
-
-
-
1Loss-
HUS1B-
-
-
-
1Loss-
HUWE1p.R3786W
Missense
SNP
1.000
NDND-
HYKK-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IAH1-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ICA1L-
-
-
-
3Gain-
ICE2-
-
-
-
1Loss-
ICK-
-
-
-
1Loss-
ICMT-
-
-
-
1Loss-
ICOS-
-
-
-
3Gain-
ICOSLG-
-
-
-
1Loss-
ID1-
-
-
-
3Gain-
ID2-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
ID4-
-
-
-
1Loss-
IDH1-
-
-
-
3Gain-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER3-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFIH1-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFT172-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1R-
-
-
-
1Loss-
IGF2R-
-
-
-
1Loss-
IGFBP2-
-
-
-
3Gain-
IGFBP5-
-
-
-
3Gain-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGHV3OR16-9-
-
-
-
1Loss-
IGLON5-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF23-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IGSF6-
-
-
-
1Loss-
IHH-
-
-
-
3Gain-
IKBKB-
-
-
-
1Loss-
IKZF2-
-
-
-
3Gain-
IL10RB-
-
-
-
1Loss-
IL16-
-
-
-
1Loss-
IL17A-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17F-
-
-
-
1Loss-
IL20RA-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL22RA1-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL27-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL7-
-
-
-
3Gain-
ILKAP-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMP4-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPG1-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
ING5-
-
-
-
3Gain-
INHA-
-
-
-
3Gain-
INO80-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
3Gain-
INO80E-
-
-
-
1Loss-
INPP1-
-
-
-
3Gain-
INPP5D-
-
-
-
3Gain-
INPP5J-
-
-
-
3Gain-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM1-
-
-
-
3Gain-
INSR-
-
-
-
1Loss-
INSYN1-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
IP6K3-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IQANK1-
-
-
-
4Gain-
IQCA1-
-
-
-
3Gain-
IQCC-
-
-
-
1Loss-
IQCF6p.A58T
Missense
SNP
0.497
NDND-
IQCH-
-
-
-
1Loss-
IQCK-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF4-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS1-
-
-
-
3Gain-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG20-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA10-
-
-
-
5Amp-
ITGA11-
-
-
-
1Loss-
ITGAD-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAM-
-
-
-
1Loss-
ITGAV-
-
-
-
3Gain-
ITGAX-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGB6-
-
-
-
1Loss-
ITM2C-
-
-
-
3Gain-
ITPA-
-
-
-
3Gain-
ITPKAp.T349M
Missense
SNP
0.345
1Loss-
ITPR3-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
1Loss-
ITSN1-
-
-
-
1Loss-
ITSN2-
-
-
-
1Loss-
IVD-
-
-
-
1Loss-
IYD-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAK2-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JARID2-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH1-
-
-
-
3Gain-
JPH2-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
JSRP1-
-
-
-
1Loss-
KAAG1-
-
-
-
1Loss-
KANK1-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANSL1L-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT6A-
-
-
-
1Loss-
KAT8-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD13-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE4-
-
-
-
3Gain-
KCNF1-
-
-
-
1Loss-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH7-
-
-
-
1Loss-
KCNJ13-
-
-
-
3Gain-
KCNJ15-
-
-
-
1Loss-
KCNJ3-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK16-
-
-
-
1Loss-
KCNK17-
-
-
-
1Loss-
KCNK3-
-
-
-
1Loss-
KCNK5-
-
-
-
1Loss-
KCNK9-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNQ5-
-
-
-
1Loss-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNS3-
-
-
-
1Loss-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCTD1-
-
-
-
3Gain-
KCTD13-
-
-
-
1Loss-
KCTD15-
-
-
-
1Loss-
KCTD18-
-
-
-
3Gain-
KCTD20-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM1B-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM8-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDRBS1-
-
-
-
1Loss-
KHDRBS2-
-
-
-
1Loss-
KHDRBS3-
-
-
-
3Gain-
KHK-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0319-
-
-
-
1Loss-
KIAA0355-
-
-
-
1Loss-
KIAA0408-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1522-
-
-
-
1Loss-
KIAA1586-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIAA2012-
-
-
-
3Gain-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIDINS220-
-
-
-
1Loss-
KIF13A-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF1A-
-
-
-
3Gain-
KIF1B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF23-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF3B-
-
-
-
3Gain-
KIF3C-
-
-
-
1Loss-
KIF5C-
-
-
-
1Loss-
KIF6-
-
-
-
1Loss-
KIF7-
-
-
-
1Loss-
KIFC1-
-
-
-
1Loss-
KIFC2-
-
-
-
4Gain-
KISS1R-
-
-
-
1Loss-
KIZ-
-
-
-
3Gain-
KLC3-
-
-
-
1Loss-
KLC4-
-
-
-
1Loss-
KLF10-
-
-
-
3Gain-
KLF11-
-
-
-
1Loss-
KLF13-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF7-
-
-
-
3Gain-
KLHDC3-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL25-
-
-
-
1Loss-
KLHL29-
-
-
-
1Loss-
KLHL30-
-
-
-
3Gain-
KLHL31-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KNL1-
-
-
-
1Loss-
KNOP1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KPNA6-
-
-
-
1Loss-
KPTN-
-
-
-
1Loss-
KREMEN2-
-
-
-
1Loss-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP12-1-
-
-
-
1Loss-
KRTAP12-2-
-
-
-
1Loss-
KRTAP12-3-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-6-
-
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1Loss-
KRTAP19-7-
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1Loss-
KRTAP19-8-
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1Loss-
KRTAP20-1-
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1Loss-
KRTAP20-2-
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1Loss-
KRTAP20-3-
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1Loss-
KRTAP20-4-
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1Loss-
KRTAP21-1-
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1Loss-
KRTAP21-2-
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1Loss-
KRTAP21-3-
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1Loss-
KRTAP22-1-
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1Loss-
KRTAP22-2-
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1Loss-
KRTAP23-1-
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1Loss-
KRTAP24-1-
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1Loss-
KRTAP25-1-
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1Loss-
KRTAP26-1-
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1Loss-
KRTAP27-1-
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1Loss-
KRTAP6-1-
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1Loss-
KRTAP6-2-
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1Loss-
KRTAP7-1-
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1Loss-
KRTAP8-1-
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1Loss-
KRTCAP3-
-
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1Loss-
KYNU-
-
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1Loss-
L34079.1-
-
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1Loss-
L3MBTL1-
-
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3Gain-
L3MBTL3-
-
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1Loss-
L3MBTL4-
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3Gain-
LACTB-
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1Loss-
LACTB2-
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3Gain-
LACTBL1-
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1Loss-
LAMA1-
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3Gain-
LAMA2-
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1Loss-
LAMA3-
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3Gain-
LAMA4-
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1Loss-
LAMA5-
-
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3Gain-
LAMP5-
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3Gain-
LANCL1-
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3Gain-
LAPTM4A-
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1Loss-
LAPTM4B-
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3Gain-
LAPTM5-
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1Loss-
LARP6-
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1Loss-
LAT-
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1Loss-
LATS1-
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1Loss-
LBH-
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1Loss-
LBP-
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3Gain-
LCA5-
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1Loss-
LCA5L-
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1Loss-
LCK-
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1Loss-
LCLAT1-
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1Loss-
LCMT1-
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1Loss-
LCMT2-
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1Loss-
LCT-
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3Gain-
LCTL-
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1Loss-
LDAH-
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1Loss-
LDHA-
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2-LDHA--RNA5-8SN2
LDHAL6B-
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1Loss-
LDHD-
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1Loss-
LDLRAD2-
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1Loss-
LDLRAD4-
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3Gain-
LDLRAP1-
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1Loss-
LEMD2-
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1Loss-
LEO1-
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1Loss-
LEPROTL1-
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1Loss-
LETM2-
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1Loss-
LGALS1-
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3Gain-
LGALS2-
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3Gain-
LGALS8-
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3Gain-
LGI3-
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1Loss-
LGSN-
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1Loss-
LHCGRp.P224R
Missense
SNP
0.308
2--
LHFPL2-
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1Loss-
LHFPL5-
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1Loss-
LIM2-
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1Loss-
LIN28A-
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1Loss-
LIN28B-
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1Loss-
LINC02203-
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1Loss-
LINGO1-
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1Loss-
LINGO2-
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1Loss-
LINGO3-
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1Loss-
LINGO4-
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3Gain-
LINS1-
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1Loss-
LIPC-
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1Loss-
LIPG-
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1Loss-
LIPI-
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1Loss-
LIX1L-
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5Amp-
LMAN1-
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1Loss-
LMAN1L-
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1Loss-
LMBRD1-
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1Loss-
LMNB2-
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1Loss-
LONP1-
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1Loss-
LONP2-
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1Loss-
LONRF1-
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1Loss-
LOXHD1-
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1Loss-
LOXL1-
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1Loss-
LOXL2-
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1Loss-
LPA-
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1Loss-
LPCAT2-
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1Loss-
LPCAT4-
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1Loss-
LPIN1-
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1Loss-
LPIN2-
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3Gain-
LPIN3-
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3Gain-
LPL-
-
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1Loss-
LRFN2-
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1Loss-
LRG1-
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1Loss-
LRP11-
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1Loss-
LRP12-
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3Gain-
LRP1B-
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3Gain-
LRP3-
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1Loss-
LRRC1-
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1Loss-
LRRC14-
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3Gain-
LRRC19-
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1Loss-
LRRC24-
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3Gain-
LRRC28-
-
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1Loss-
LRRC3-
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1Loss-
LRRC30-
-
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3Gain-
LRRC38-
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1Loss-
LRRC47-
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1Loss-
LRRC49-
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1Loss-
LRRC57-
-
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1Loss-
LRRC6-
-
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3Gain-
LRRC69-
-
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3Gain-
LRRC73-
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1Loss-
LRRC8E-
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1Loss-
LRRCC1-
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3Gain-
LRRFIP1-
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3Gain-
LRRK1-
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1Loss-
LRRN4-
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3Gain-
LRRTM3-
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1Loss-
LSM1-
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1Loss-
LSM14A-
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1Loss-
LSM14B-
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3Gain-
LSM2-
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1Loss-
LSM7-
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1Loss-
LSS-
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1Loss-
LST1-
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1Loss-
LTA-
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1Loss-
LTB-
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1Loss-
LTBP1-
-
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1Loss-
LTK-
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1Loss-
LTN1-
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1Loss-
LTV1-
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1Loss-
LUC7L-
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1Loss-
LURAP1L-
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1Loss-
LUZP1-
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1Loss-
LY6D-
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3Gain-
LY6E-
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4Gain-
LY6G5B-
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1Loss-
LY6G5C-
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1Loss-
LY6G6C-
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1Loss-
LY6G6D-
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1Loss-
LY6G6E-
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1Loss-
LY6G6F-
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1Loss-
LY6G6F-LY6G6D-
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1Loss-
LY6H-
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4Gain-
LY6K-
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3Gain-
LY6L-
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4Gain-
LY75-
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1Loss-
LY75-CD302-
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1Loss-
LY86-
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1Loss-
LY96-
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3Gain-
LYN-
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3Gain-
LYNX1-
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3Gain-
LYNX1-SLURP2-
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3Gain-
LYPD1-
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3Gain-
LYPD2-
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3Gain-
LYPD3-
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1Loss-
LYPD5-
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1Loss-
LYPD6-
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1Loss-
LYPD6B-
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1Loss-
LYPD8-
-
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3Gain-
LYPLA1-
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3Gain-
LYPLA2-
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1Loss-
LYRM1-
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1Loss-
LYRM2-
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1Loss-
LYRM4-
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1Loss-
LYSMD1-
-
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3Gain-
LYSMD2-
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1Loss-
LYSMD4-
-
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1Loss-
LZIC-
-
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-
1Loss-
LZTS1-
-
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-
1Loss-
LZTS3-
-
-
-
3Gain-
MAB21L4-
-
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3Gain-
MACO1-
-
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1Loss-
MACROD2-
-
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3Gain-
MAD2L1BP-
-
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-
1Loss-
MAD2L2-
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1Loss-
MADCAM1-
-
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1Loss-
MAF-
-
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1Loss-
MAF1-
-
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-
4Gain-
MAFA-
-
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4Gain-
MAFB-
-
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-
3Gain-
MAGEL2-
-
-
-
1Loss-
MAIP1-
-
-
-
3Gain-
MAK-
-
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-
1Loss-
MAK16-
-
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-
1Loss-
MAL2-
-
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3Gain-
MALT1-
-
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1Loss-
MAN1A1-
-
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1Loss-
MAN1C1-
-
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-
1Loss-
MAN2A2-
-
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1Loss-
MAN2C1-
-
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-
1Loss-
MANBAL-
-
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3Gain-
MANEA-
-
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-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
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3Gain-
MAP2-
-
-
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3Gain-
MAP2K1-
-
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-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K5-
-
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-
1Loss-
MAP2K7-
-
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-
1Loss-
MAP3K19-
-
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3Gain-
MAP3K4-
-
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-
1Loss-
MAP3K5-
-
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-
1Loss-
MAP3K6-
-
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-
1Loss-
MAP3K7-
-
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1Loss-
MAP3K7CL-
-
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1Loss-
MAP4K3-
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1Loss-
MAP7-
-
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-
1Loss-
MAPK13-
-
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-
1Loss-
MAPK14-
-
-
-
1Loss-
MAPK15-
-
-
-
4Gain-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
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-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPKBP1-
-
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-
1Loss-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
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-
1Loss-
MAPRE3-
-
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-
1Loss-
MARCH2-
-
-
-
1Loss-
MARCH4-
-
-
-
3Gain-
MARCH7-
-
-
-
1Loss-
MARCKS-
-
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-
1Loss-
MARCKSL1-
-
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-
1Loss-
MARF1-
-
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1Loss-
MARK4-
-
-
-
1Loss-
MARS2-
-
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3Gain-
MARVELD2-
-
-
-
1Loss-
MAS1-
-
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-
1Loss-
MAS1L-
-
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-
1Loss-
MASP2-
-
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-
1Loss-
MAST4-
-
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-
1Loss-
MATK-
-
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1Loss-
MATN1-
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1Loss-
MATN2-
-
-
-
3Gain-
MATN3-
-
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-
1Loss-
MATN4-
-
-
-
3Gain-
MAVS-
-
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3Gain-
MAZ-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
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-
1Loss-
MBD3-
-
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-
1Loss-
MBD3L1-
-
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1Loss-
MBD3L2-
-
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1Loss-
MBD3L2B-
-
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1Loss-
MBD3L3-
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1Loss-
MBD3L4-
-
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1Loss-
MBD3L5-
-
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1Loss-
MBD5-
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1Loss-
MBOAT1-
-
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1Loss-
MBOAT2-
-
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1Loss-
MBOAT4-
-
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-
1Loss-
MBP-
-
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-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC3R-
-
-
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3Gain-
MC4R-
-
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-
1Loss-
MC5R-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCCD1-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCHR2-
-
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-
1Loss-
MCL1-
-
-
-
3Gain-
MCM3-
-
-
-
1Loss-
MCM3AP-
-
-
-
1Loss-
MCM4-
-
-
-
3Gain-
MCM6-
-
-
-
3Gain-
MCM8-
-
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-
3Gain-
MCM9-
-
-
-
1Loss-
MCMDC2-
-
-
-
3Gain-
MCOLN1-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCTS2P-
-
-
-
3Gain-
MCUR1-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFI-
-
-
-
1Loss-
MDGA1-
-
-
-
1Loss-
MDH1B-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MEA1-
-
-
-
1Loss-
MECR-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED18-
-
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-
1Loss-
MED20-
-
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-
1Loss-
MED23-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MEF2A-
-
-
-
1Loss-
MEFV-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF6-
-
-
-
1Loss-
MEI4-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MEIS3-
-
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-
1Loss-
MEMO1-
-
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1Loss-
MEP1A-
-
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-
1Loss-
MEP1B-
-
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1Loss-
MESD-
-
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-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
METTL21A-
-
-
-
3Gain-
METTL24-
-
-
-
1Loss-
METTL4-
-
-
-
3Gain-
METTL9-
-
-
-
1Loss-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFF-
-
-
-
3Gain-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN2-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD14B-
-
-
-
1Loss-
MFSD2B-
-
-
-
1Loss-
MFSD3-
-
-
-
4Gain-
MFSD4B-
-
-
-
1Loss-
MFSD6-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAT5-
-
-
-
3Gain-
MGME1-
-
-
-
3Gain-
MGRN1-
-
-
-
1Loss-
MIB1-
-
-
-
3Gain-
MICA-
-
-
-
1Loss-
MICAL1-
-
-
-
1Loss-
MICB-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLIP-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLN-
-
-
-
1Loss-
MLPH-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMADHC-
-
-
-
1Loss-
MMEL1-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMP2-
-
-
-
1Loss-
MMP24-
-
-
-
3Gain-
MMP25-
-
-
-
1Loss-
MMP9-
-
-
-
3Gain-
MMS22L-
-
-
-
1Loss-
MNS1-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOB4-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOCS1-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MOG-
-
-
-
1Loss-
MOGAT1-
-
-
-
3Gain-
MON1B-
-
-
-
1Loss-
MORC3-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOSMO-
-
-
-
1Loss-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPIG6B-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP4-
-
-
-
3Gain-
MPPE1-
-
-
-
3Gain-
MPV17-
-
-
-
1Loss-
MPV17L-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MREG-
-
-
-
3Gain-
MRGBP-
-
-
-
3Gain-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
4Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
4Gain-
MROH8-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL14-
-
-
-
1Loss-
MRPL15-
-
-
-
3Gain-
MRPL18-
-
-
-
1Loss-
MRPL2-
-
-
-
1Loss-
MRPL28-
-
-
-
1Loss-
MRPL33-
-
-
-
1Loss-
MRPL39-
-
-
-
1Loss-
MRPL44-
-
-
-
3Gain-
MRPL46-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
1Loss-
MRPS11-
-
-
-
1Loss-
MRPS18A-
-
-
-
1Loss-
MRPS18B-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS26-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS28-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRS2-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSGN1-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH5-
-
-
-
1Loss-
MSH5-SAPCD1-
-
-
-
1Loss-
MSL3p.I174V
Missense
SNP
1.000
NDND-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSTN-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTCH1-
-
-
-
1Loss-
MTCL1-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTERF4-
-
-
-
3Gain-
MTFMT-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTFR1L-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1L-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR10-
-
-
-
1Loss-
MTMR11-
-
-
-
5Amp-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTOR-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC21-
-
-
-
1Loss-
MUC22-
-
-
-
1Loss-
MUCL3-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUT-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MVP-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCN-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH11-
-
-
-
1Loss-
MYH7B-
-
-
-
3Gain-
MYL1-
-
-
-
3Gain-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL9-
-
-
-
3Gain-
MYLIP-
-
-
-
1Loss-
MYLK2-
-
-
-
3Gain-
MYLK3-
-
-
-
1Loss-
MYLK4-
-
-
-
1Loss-
MYLPF-
-
-
-
1Loss-
MYMX-
-
-
-
1Loss-
MYO1B-
-
-
-
3Gain-
MYO1E-
-
-
-
1Loss-
MYO1F-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO6-
-
-
-
1Loss-
MYO9A-
-
-
-
1Loss-
MYOM1-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYOM3-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYZAP-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
MZT2A-
-
-
-
3Gain-
MZT2B-
-
-
-
3Gain-
N4BP1-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA20-
-
-
-
3Gain-
NAA60-
-
-
-
1Loss-
NAB1-
-
-
-
3Gain-
NABP1-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NAPA-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPG-
-
-
-
3Gain-
NAPRT-
-
-
-
4Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NBAS-
-
-
-
1Loss-
NBEAL1-
-
-
-
3Gain-
NBL1-
-
-
-
1Loss-
NBN-
-
-
-
3Gain-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
5Amp-
NBPF11-
-
-
-
5Amp-
NBPF12-
-
-
-
5Amp-
NBPF14-
-
-
-
5Amp-
NBPF15-
-
-
-
5Amp-
NBPF19-
-
-
-
5Amp-
NBPF20-
-
-
-
5Amp-
NBPF3-
-
-
-
1Loss-
NBPF9-
-
-
-
5Amp-
NCALD-
-
-
-
3Gain-
NCAM2-
-
-
-
1Loss-
NCKAP5-
-
-
-
3Gain-
NCL-
-
-
-
3Gain-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA1-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOA7-
-
-
-
1Loss-
NCR2-
-
-
-
1Loss-
NCR3-
-
-
-
1Loss-
NDC80-
-
-
-
3Gain-
NDE1-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDUFA10-
-
-
-
3Gain-
NDUFA11-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFAB1-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFAF7-
-
-
-
1Loss-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFS1-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NDUFV2-
-
-
-
3Gain-
NDUFV3-
-
-
-
1Loss-
NEB-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NECAB3-
-
-
-
3Gain-
NECAP2-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEDD9-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELFE-
-
-
-
1Loss-
NEMP2-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU1-
-
-
-
1Loss-
NEU2-
-
-
-
3Gain-
NEU4-
-
-
-
3Gain-
NEURL2-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFATC2IP-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFKBIE-
-
-
-
1Loss-
NFKBIL1-
-
-
-
1Loss-
NFS1-
-
-
-
3Gain-
NFYA-
-
-
-
1Loss-
NGEF-
-
-
-
3Gain-
NGRN-
-
-
-
1Loss-
NHEJ1-
-
-
-
3Gain-
NHLRC1-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NIF3L1-
-
-
-
3Gain-
NINL-
-
-
-
3Gain-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
3Gain-
NIPAL3-
-
-
-
1Loss-
NKAIN1-
-
-
-
1Loss-
NKAIN2-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPL-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKG7-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NMB-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NMI-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NMRAL1-
-
-
-
1Loss-
NMRK2-
-
-
-
1Loss-
NMUR1-
-
-
-
3Gain-
NNAT-
-
-
-
3Gain-
NOL10-
-
-
-
1Loss-
NOL12-
-
-
-
3Gain-
NOL4-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL7-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOP58-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
5Amp-
NOTCH4-
-
-
-
1Loss-
NOV-
-
-
-
3Gain-
NOVA2-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOX5-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAS1-
-
-
-
1Loss-
NPBWR1-
-
-
-
3Gain-
NPC1-
-
-
-
3Gain-
NPEPL1-
-
-
-
3Gain-
NPHP4-
-
-
-
1Loss-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPIPB7-
-
-
-
1Loss-
NPIPB8-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPPC-
-
-
-
3Gain-
NPRL3-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NQO2-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP1-
-
-
-
1Loss-
NRBP2-
-
-
-
4Gain-
NRG1-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRM-
-
-
-
1Loss-
NRN1-
-
-
-
1Loss-
NRP2-
-
-
-
3Gain-
NRSN1-
-
-
-
1Loss-
NRSN2-
-
-
-
3Gain-
NRTN-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE1-
-
-
-
1Loss-
NSMCE2-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NT5C1B-
-
-
-
1Loss-
NT5C1B-RDH14-
-
-
-
1Loss-
NT5DC1-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NTAN1-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTRK3-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NTSR2-
-
-
-
1Loss-
NUDC-
-
-
-
1Loss-
NUDCD1-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT17-
-
-
-
5Amp-
NUDT18-
-
-
-
1Loss-
NUDT19-
-
-
-
1Loss-
NUDT3-
-
-
-
1Loss-
NUDT4B-
-
-
-
5Amp-
NUDT7-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUP153-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUPR1-
-
-
-
1Loss-
NUS1-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2F-
-
-
-
1Loss-
NUTM2G-
-
-
-
1Loss-
NXPH2-
-
-
-
3Gain-
NXT1-
-
-
-
3Gain-
NYAP2-
-
-
-
3Gain-
OARD1-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSL1-
-
-
-
3Gain-
OC90-
-
-
-
3Gain-
OCA2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OCSTAMP-
-
-
-
3Gain-
ODC1-
-
-
-
1Loss-
ODF1-
-
-
-
3Gain-
ODF3L1-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGFRL1-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OLIG3-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPLAH-
-
-
-
4Gain-
OPN3-
-
-
-
3Gain-
OPN5-
-
-
-
1Loss-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
3Gain-
OPRM1-
-
-
-
1Loss-
OR10C1-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR11A1-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR12D2-
-
-
-
1Loss-
OR12D3-
-
-
-
1Loss-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14J1-
-
-
-
1Loss-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1F1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2B2-
-
-
-
1Loss-
OR2B3-
-
-
-
1Loss-
OR2B6-
-
-
-
1Loss-
OR2C1-
-
-
-
1Loss-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2H1-
-
-
-
1Loss-
OR2H2-
-
-
-
1Loss-
OR2J1-
-
-
-
1Loss-
OR2J2-
-
-
-
1Loss-
OR2J3-
-
-
-
1Loss-
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-
OR2W1-
-
-
-
1Loss-
OR2W3-
-
-
-
3Gain-
OR2Z1-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4K1-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4M1-
-
-
-
3Gain-
OR4M2-
-
-
-
1Loss-
OR4N2-
-
-
-
3Gain-
OR4N4-
-
-
-
1Loss-
OR4Q3-
-
-
-
3Gain-
OR5V1-
-
-
-
1Loss-
OR6B2-
-
-
-
3Gain-
OR6B3-
-
-
-
3Gain-
OR6F1-
-
-
-
3Gain-
OR7D2-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
ORAI3-
-
-
-
1Loss-
ORC2-
-
-
-
3Gain-
ORC3-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORC6-
-
-
-
1Loss-
ORMDL1-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL2-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSGEPL1-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSR1-
-
-
-
1Loss-
OSR2-
-
-
-
3Gain-
OST4-
-
-
-
1Loss-
OSTM1-
-
-
-
1Loss-
OTOA-
-
-
-
1Loss-
OTOF-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTOS-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
5Amp-
OVOL2-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
OXT-
-
-
-
3Gain-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPN1L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACSIN1-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAGR1-
-
-
-
1Loss-
PAK1IP1-
-
-
-
1Loss-
PAK5-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALB2-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PAM16-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANK4-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR7-
-
-
-
1Loss-
PAQR8-
-
-
-
1Loss-
PARD3B-
-
-
-
3Gain-
PARD6B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP10-
-
-
-
4Gain-
PARP16-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PASK-
-
-
-
3Gain-
PATL2-
-
-
-
1Loss-
PAX1-
-
-
-
3Gain-
PAX3-
-
-
-
3Gain-
PAX7-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBX2-
-
-
-
1Loss-
PCARE-
-
-
-
1Loss-
PCBP3-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCED1A-
-
-
-
3Gain-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCLAF-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNT-
-
-
-
1Loss-
PCP2-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCSK6-
-
-
-
1Loss-
PDCD1-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDCD2L-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE4DIP-
-
-
-
5Amp-
PDE6D-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA6-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDILT-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDPK1-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDRG1-
-
-
-
3Gain-
PDSS2-
-
-
-
1Loss-
PDXDC1-
-
-
-
1Loss-
PDXK-
-
-
-
1Loss-
PDXP-
-
-
-
3Gain-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZD9-
-
-
-
1Loss-
PDZK1-
-
-
-
5Amp-
PEAK1-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PECR-
-
-
-
3Gain-
PEF1-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PEPD-
-
-
-
1Loss-
PER2-
-
-
-
3Gain-
PER3-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX11A-
-
-
-
1Loss-
PEX11B-
-
-
-
5Amp-
PEX11G-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PEX2-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX6-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFDN6-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFN4-
-
-
-
1Loss-
PGAP1-
-
-
-
3Gain-
PGBD1-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGC-
-
-
-
1Loss-
PGD-
-
-
-
1Loss-
PGK2-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGM3-
-
-
-
1Loss-
PGPEP1L-
-
-
-
1Loss-
PHACTR1-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
1Loss-
PHF1-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF3-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHKG2-
-
-
-
1Loss-
PHLDB3-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI16-
-
-
-
1Loss-
PI3-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
5Amp-
PIAS4-
-
-
-
1Loss-
PIBF1p.P736T
Missense
SNP
0.472
2--
PID1-
-
-
-
3Gain-
PIEZO1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIF1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGV-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIKFYVE-
-
-
-
3Gain-
PIM1-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKHD1-
-
-
-
1Loss-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIB-
-
-
-
1Loss-
PKIG-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PKNOX1-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLA2G7-
-
-
-
1Loss-
PLA2R1-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL1-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLB1-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB2-
-
-
-
1Loss-
PLCB4-
-
-
-
3Gain-
PLCD4-
-
-
-
3Gain-
PLCG1-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLCH2-
-
-
-
1Loss-
PLCL1-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLEC-
-
-
-
4Gain-
PLEKHA2-
-
-
-
1Loss-
PLEKHB2-
-
-
-
3Gain-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
1Loss-
PLEKHM3-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN1-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PML-
-
-
-
1Loss-
PMP2-
-
-
-
3Gain-
PMS1-
-
-
-
3Gain-
PNISR-
-
-
-
1Loss-
PNKD-
-
-
-
3Gain-
PNLDC1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA1-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNRC1-
-
-
-
1Loss-
PNRC2-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
POFUT1-
-
-
-
3Gain-
POFUT2-
-
-
-
1Loss-
POGZ-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLG-
-
-
-
1Loss-
POLH-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLR1C-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3C-
-
-
-
5Amp-
POLR3D-
-
-
-
1Loss-
POLR3E-
-
-
-
1Loss-
POLR3F-
-
-
-
3Gain-
POLR3GL-
-
-
-
5Amp-
POLR3K-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L2-
-
-
-
1Loss-
POMC-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POP1-
-
-
-
3Gain-
POP4-
-
-
-
1Loss-
POPDC3-
-
-
-
1Loss-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POTED-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU5F1-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
PPARD-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPIB-
-
-
-
1Loss-
PPIL1-
-
-
-
1Loss-
PPIL3-
-
-
-
3Gain-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPM1G-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPP1CB-
-
-
-
1Loss-
PPP1R10-
-
-
-
1Loss-
PPP1R11-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R16A-
-
-
-
4Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R18-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3G-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP1R7-
-
-
-
3Gain-
PPP1R8-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R1A-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R5D-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPT2-
-
-
-
1Loss-
PPT2-EGFL8-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PQLC3-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRDM1-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PREB-
-
-
-
1Loss-
PRELID3A-
-
-
-
3Gain-
PRELID3B-
-
-
-
3Gain-
PREP-
-
-
-
1Loss-
PREX1p.S1016L
Missense
SNP
0.540
3Gain-
PREX2-
-
-
-
3Gain-
PRICKLE4-
-
-
-
1Loss-
PRIM2-
-
-
-
1Loss-
PRKAB2-
-
-
-
5Amp-
PRKAG3-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKD2-
-
-
-
1Loss-
PRKD3-
-
-
-
1Loss-
PRKDC-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRL-
-
-
-
1Loss-
PRLH-
-
-
-
3Gain-
PRMT2-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROCR-
-
-
-
3Gain-
PROKR2-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF40A-
-
-
-
1Loss-
PRPF4B-
-
-
-
1Loss-
PRPH2-
-
-
-
1Loss-
PRR14-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR3-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRRC2A-
-
-
-
1Loss-
PRRT1-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRSS16-
-
-
-
1Loss-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS41-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS56-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRSS8-
-
-
-
1Loss-
PRTG-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRXL2B-
-
-
-
1Loss-
PRXL2C-
-
-
-
1Loss-
PSAT1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA4-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
3Gain-
PSMB1-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB8-
-
-
-
1Loss-
PSMB9-
-
-
-
1Loss-
PSMD1-
-
-
-
3Gain-
PSMD14-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMF1-
-
-
-
3Gain-
PSMG1-
-
-
-
1Loss-
PSMG2-
-
-
-
3Gain-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
1Loss-
PSORS1C2-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCH1-
-
-
-
1Loss-
PTCHD4-
-
-
-
1Loss-
PTCRA-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTGIR-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTH2R-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTK7-
-
-
-
1Loss-
PTMA-
-
-
-
3Gain-
PTP4A1-
-
-
-
1Loss-
PTP4A2-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN18-
-
-
-
3Gain-
PTPN2-
-
-
-
3Gain-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRD-
-
-
-
1Loss-
PTPRK-
-
-
-
1Loss-
PTPRM-
-
-
-
3Gain-
PTPRN-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRS-
-
-
-
1Loss-
PTPRT-
-
-
-
3Gain-
PTPRU-
-
-
-
1Loss-
PTRHD1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
1Loss-
PUF60-
-
-
-
4Gain-
PUM1-
-
-
-
1Loss-
PUM2-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PVR-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXDNL-
-
-
-
3Gain-
PXMP4-
-
-
-
3Gain-
PXT1-
-
-
-
1Loss-
PYCARD-
-
-
-
1Loss-
PYCR3-
-
-
-
4Gain-
PYDC1-
-
-
-
1Loss-
PYGB-
-
-
-
3Gain-
PYGO1-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QPCT-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QPRT-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDM1-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB10-
-
-
-
1Loss-
RAB11A-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB12-
-
-
-
3Gain-
RAB17-
-
-
-
3Gain-
RAB22A-
-
-
-
3Gain-
RAB23-
-
-
-
1Loss-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB32-
-
-
-
1Loss-
RAB3GAP1-
-
-
-
3Gain-
RAB42-
-
-
-
1Loss-
RAB44-
-
-
-
1Loss-
RAB5IF-
-
-
-
3Gain-
RAB6C-
-
-
-
3Gain-
RAB6D-
-
-
-
3Gain-
RAB8B-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD21L1-
-
-
-
3Gain-
RAD51-
-
-
-
1Loss-
RAD51AP2-
-
-
-
1Loss-
RAD54B-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RALBP1-
-
-
-
3Gain-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RAMACL-
-
-
-
1Loss-
RAMP1-
-
-
-
3Gain-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
1Loss-
RAP1GAP-
-
-
-
1Loss-
RAPH1-
-
-
-
3Gain-
RARS2-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASEF-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP3-
-
-
-
1Loss-
RASL12-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBBP4-
-
-
-
1Loss-
RBBP6-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBKS-
-
-
-
1Loss-
RBL1-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM24-
-
-
-
1Loss-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM43-
-
-
-
1Loss-
RBM44-
-
-
-
3Gain-
RBM8A-
-
-
-
5Amp-
RBMS1-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RBPMS2-
-
-
-
1Loss-
RCAN1-
-
-
-
1Loss-
RCAN2-
-
-
-
1Loss-
RCAN3-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCOR1-
-
-
-
2-RCOR1--TECPR2
RDH10-
-
-
-
3Gain-
RDH14-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
RECQL4-
-
-
-
4Gain-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REM1-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
RESP18-
-
-
-
3Gain-
RETN-
-
-
-
1Loss-
RETREG2-
-
-
-
3Gain-
REV3L-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO5-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFTN2-
-
-
-
3Gain-
RFWD3-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RGL2-
-
-
-
1Loss-
RGMA-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS11-
-
-
-
1Loss-
RGS17-
-
-
-
1Loss-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS9BP-
-
-
-
1Loss-
RHAG-
-
-
-
1Loss-
RHBDD1-
-
-
-
3Gain-
RHBDF1-
-
-
-
1Loss-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHOB-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
4Gain-
RHPN2-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RIF1-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIMS1-
-
-
-
1Loss-
RIMS2-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RING1-
-
-
-
1Loss-
RIOK1-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIPK1-
-
-
-
1Loss-
RIPK2-
-
-
-
3Gain-
RIPK4-
-
-
-
1Loss-
RIPOR2-
-
-
-
1Loss-
RIPOR3-
-
-
-
3Gain-
RIPPLY2-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RMDN2-
-
-
-
1Loss-
RMDN3-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDLDHA--RNA5-8SN2
RNA5-8SN2--GLB1
HSPG2--RNA5-8SN2
RNA5-8SN2--TCF25
RNASET2-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF115-
-
-
-
5Amp-
RNF122-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF139-
-
-
-
3Gain-
RNF144B-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF182-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF19B-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF217-
-
-
-
1Loss-
RNF225-
-
-
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1Loss-
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1Loss-
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-
-
3Gain-
SLC4A1AP-
-
-
-
1Loss-
SLC4A3-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC52A2-
-
-
-
4Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A11-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A13-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A9-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4IP-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCAL1-
-
-
-
3Gain-
SMC6-
-
-
-
1Loss-
SMCHD1-
-
-
-
3Gain-
SMG1-
-
-
-
1Loss-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM13-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
1Loss-
SMIM29-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMPD2-
-
-
-
1Loss-
SMPD4-
-
-
-
3Gain-
SMPDL3A-
-
-
-
1Loss-
SMPDL3B-
-
-
-
1Loss-
SMYD3-
-
-
-
3Gain-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAP91-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNED1-
-
-
-
3Gain-
SNIP1p.R111H
Missense
SNP
0.511
2--
SNORC-
-
-
-
3Gain-
SNPH-
-
-
-
3Gain-
SNRNP25-
-
-
-
1Loss-
SNRNP40-
-
-
-
1Loss-
SNRNP48-
-
-
-
1Loss-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPC-
-
-
-
1Loss-
SNRPD1-
-
-
-
3Gain-
SNRPD2-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX14-
-
-
-
1Loss-
SNX16-
-
-
-
3Gain-
SNX17-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX3-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX9-
-
-
-
1Loss-
SOBP-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SOGA3-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX17-
-
-
-
3Gain-
SOX4-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SP100-
-
-
-
3Gain-
SP110-
-
-
-
3Gain-
SP140-
-
-
-
3Gain-
SP140L-
-
-
-
3Gain-
SPACA1-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
3Gain-
SPAG4-
-
-
-
3Gain-
SPAST-
-
-
-
1Loss-
SPATA2-
-
-
-
3Gain-
SPATA21-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
3Gain-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATC1-
-
-
-
4Gain-
SPATC1L-
-
-
-
1Loss-
SPATS1-
-
-
-
1Loss-
SPATS2L-
-
-
-
3Gain-
SPDEF-
-
-
-
1Loss-
SPDYA-
-
-
-
1Loss-
SPEF1-
-
-
-
3Gain-
SPEG-
-
-
-
3Gain-
SPEN-
-
-
-
1Loss-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHKAP-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPINT1-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
1Loss-
SPOPL-
-
-
-
3Gain-
SPP2-
-
-
-
3Gain-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC3-
-
-
-
3Gain-
SPZ1-
-
-
-
1Loss-
SQLE-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRC-
-
-
-
3Gain-
SRCAP-
-
-
-
1Loss-
SRD5A2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRF-
-
-
-
1Loss-
SRGAP2B-
-
-
-
5Amp-
SRL-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRPK1-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM2-
-
-
-
1Loss-
SRRM5-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF12-
-
-
-
1Loss-
SRSF3-
-
-
-
1Loss-
SRSF4-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF7-
-
-
-
1Loss-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSR1-
-
-
-
1Loss-
SSTR4-
-
-
-
3Gain-
ST18-
-
-
-
3Gain-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL1-
-
-
-
3Gain-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAM2-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAT1-
-
-
-
3Gain-
STAT4-
-
-
-
3Gain-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
3Gain-
STK16-
-
-
-
3Gain-
STK17B-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK25-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK35-
-
-
-
3Gain-
STK36-
-
-
-
3Gain-
STK38-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STMN1-
-
-
-
1Loss-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STMND1-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRADB-
-
-
-
3Gain-
STRC-
-
-
-
1Loss-
STRN-
-
-
-
1Loss-
STRN4-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX4-
-
-
-
1Loss-
STX7-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT6B1-
-
-
-
1Loss-
SUMO1-
-
-
-
3Gain-
SUMO3-
-
-
-
1Loss-
SUMO4-
-
-
-
1Loss-
SUN5-
-
-
-
3Gain-
SUPT3H-
-
-
-
1Loss-
SUPT7L-
-
-
-
1Loss-
SV2A-
-
-
-
5Amp-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SYBU-
-
-
-
3Gain-
SYCE1L-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYCP2L-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYMPK-
-
-
-
1Loss-
SYNC-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNE1-
-
-
-
1Loss-
SYNGAP1-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT17-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TAF11-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF1B-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
3Gain-
TAF8-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANK-
-
-
-
1Loss-
TAOK2-
-
-
-
1Loss-
TAP1-
-
-
-
1Loss-
TAP2-
-
-
-
1Loss-
TAPBP-
-
-
-
1Loss-
TARDBP-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TBC1D10B-
-
-
-
1Loss-
TBC1D20-
-
-
-
3Gain-
TBC1D21-
-
-
-
1Loss-
TBC1D22B-
-
-
-
1Loss-
TBC1D24-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D31-
-
-
-
3Gain-
TBC1D32-
-
-
-
1Loss-
TBC1D7-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCC-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBR1-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TBX6-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TBXT-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCEB3Bp.E345Q
Missense
SNP
0.986
NDND-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF19-
-
-
-
1Loss-
TCF21-
-
-
-
1Loss-
TCF23-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCF25-
-
-
-
1LossRNA5-8SN2--TCF25
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
1Loss-
TCTE1-
-
-
-
1Loss-
TCTE3-
-
-
-
1Loss-
TDP2-
-
-
-
1Loss-
TDRD12-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TDRD6-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEAD3-
-
-
-
1Loss-
TECPR2-
-
-
-
2-RCOR1--TECPR2
TEDC2-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TERF2IP-
-
-
-
1Loss-
TEX101-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX44-
-
-
-
3Gain-
TEX45-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX9-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFAP2A-
-
-
-
1Loss-
TFAP2B-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFAP2D-
-
-
-
1Loss-
TFAP4-
-
-
-
1Loss-
TFB1M-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFEB-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFPI-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGFB1I1-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGIF1-
-
-
-
3Gain-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGM7-
-
-
-
1Loss-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
1Loss-
THAP10-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP4-
-
-
-
3Gain-
THBD-
-
-
-
3Gain-
THBS1-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THEMIS-
-
-
-
1Loss-
THEMIS2-
-
-
-
1Loss-
THOC1-
-
-
-
3Gain-
THOC6-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THSD7B-
-
-
-
3Gain-
THUMPD1-
-
-
-
1Loss-
THUMPD2-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIGD1-
-
-
-
3Gain-
TIGD5-
-
-
-
4Gain-
TIGD7-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TINAG-
-
-
-
1Loss-
TINAGL1-
-
-
-
1Loss-
TIPIN-
-
-
-
1Loss-
TJAP1-
-
-
-
1Loss-
TJP1-
-
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-
1Loss-
TJP3-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE1-
-
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-
1Loss-
TLE2-
-
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-
1Loss-
TLE3-
-
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-
1Loss-
TLE4-
-
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-
1Loss-
TLE6-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM2D3-
-
-
-
1Loss-
TM4SF20-
-
-
-
3Gain-
TM6SF1-
-
-
-
1Loss-
TM9SF4-
-
-
-
3Gain-
TMBIM1-
-
-
-
3Gain-
TMC2-
-
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-
3Gain-
TMC3-
-
-
-
1Loss-
TMC5-
-
-
-
1Loss-
TMC7-
-
-
-
1Loss-
TMCO4-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMEFF2-
-
-
-
3Gain-
TMEM14A-
-
-
-
1Loss-
TMEM14B-
-
-
-
1Loss-
TMEM14C-
-
-
-
1Loss-
TMEM151B-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM163-
-
-
-
3Gain-
TMEM167A-
-
-
-
1Loss-
TMEM169-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM170B-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM178A-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM198-
-
-
-
3Gain-
TMEM200A-
-
-
-
1Loss-
TMEM200B-
-
-
-
1Loss-
TMEM200C-
-
-
-
3Gain-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM214-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM217-
-
-
-
1Loss-
TMEM219-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM234-
-
-
-
1Loss-
TMEM237-
-
-
-
3Gain-
TMEM239-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
1Loss-
TMEM249-
-
-
-
4Gain-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM39B-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM54-
-
-
-
1Loss-
TMEM62-
-
-
-
1Loss-
TMEM63B-
-
-
-
1Loss-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM74B-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM8A-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNF-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP6-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF21-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNC2-
-
-
-
3Gain-
TNP1-
-
-
-
3Gain-
TNPO1-
-
-
-
1Loss-
TNRC6A-
-
-
-
1Loss-
TNS1-
-
-
-
3Gain-
TNXB-
-
-
-
1Loss-
TOGARAM2-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM40-
-
-
-
1Loss-
TOMM6-
-
-
-
1Loss-
TONSL-
-
-
-
4Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
4Gain-
TOPORS-
-
-
-
1Loss-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TP53BP1p.S1559N
Missense
SNP
0.626
1Loss-
TP53I3-
-
-
-
1Loss-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP73-
-
-
-
1Loss-
TPBG-
-
-
-
1Loss-
TPD52-
-
-
-
3Gain-
TPD52L1-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPM1-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPMT-
-
-
-
1Loss-
TPRG1L-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPX2-
-
-
-
3Gain-
TRAF3IP1-
-
-
-
3Gain-
TRAF3IP2-
-
-
-
1Loss-
TRAK2-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAM2-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRDN-
-
-
-
1Loss-
TREM1-
-
-
-
1Loss-
TREM2-
-
-
-
1Loss-
TREML1-
-
-
-
1Loss-
TREML2-
-
-
-
1Loss-
TREML4-
-
-
-
1Loss-
TRERF1-
-
-
-
1Loss-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIB2-
-
-
-
1Loss-
TRIB3-
-
-
-
3Gain-
TRIM10-
-
-
-
1Loss-
TRIM15-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM26-
-
-
-
1Loss-
TRIM27-
-
-
-
1Loss-
TRIM28-
-
-
-
1Loss-
TRIM31-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM38-
-
-
-
1Loss-
TRIM39-
-
-
-
1Loss-
TRIM39-RPP21-
-
-
-
1Loss-
TRIM40-
-
-
-
1Loss-
TRIM54-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM62-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM72-
-
-
-
1Loss-
TRIOBP-
-
-
-
3Gain-
TRIP10-
-
-
-
1Loss-
TRIP12-
-
-
-
3Gain-
TRIP4-
-
-
-
1Loss-
TRIQK-
-
-
-
3Gain-
TRMT11-
-
-
-
1Loss-
TRMT12-
-
-
-
3Gain-
TRMT6-
-
-
-
3Gain-
TRMT61B-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPM1-
-
-
-
1Loss-
TRPM2-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN3-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSPO2-
-
-
-
1Loss-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSPYL5-
-
-
-
3Gain-
TSSK3-
-
-
-
1Loss-
TSTA3-
-
-
-
4Gain-
TSTD3-
-
-
-
1Loss-
TTBK1-
-
-
-
1Loss-
TTBK2-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC27-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC32-
-
-
-
1Loss-
TTC34-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC39C-
-
-
-
3Gain-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL4-
-
-
-
3Gain-
TTLL9-
-
-
-
3Gain-
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TTR-
-
-
-
1Loss-
TUBA3D-
-
-
-
3Gain-
TUBA3E-
-
-
-
3Gain-
TUBA4A-
-
-
-
3Gain-
TUBA4B-
-
-
-
3Gain-
TUBB-
-
-
-
1Loss-
TUBB1-
-
-
-
3Gain-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBB6-
-
-
-
3Gain-
TUBE1-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TWIST2-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXLNA-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXNDC2-
-
-
-
3Gain-
TXNDC5-
-
-
-
1Loss-
TXNIP-
-
-
-
5Amp-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TYMS-
-
-
-
3Gain-
TYRO3-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
TYW5-
-
-
-
3Gain-
U2AF1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
UACA-
-
-
-
1Loss-
UBA2-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBAP1L-
-
-
-
1Loss-
UBASH3A-
-
-
-
1Loss-
UBD-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2F-
-
-
-
3Gain-
UBE2F-SCLY-
-
-
-
3Gain-
UBE2G2-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3D-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBFD1-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBOX5-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR2-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UBXN2B-
-
-
-
3Gain-
UBXN4-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCN-
-
-
-
1Loss-
UFL1-
-
-
-
1Loss-
UHRF1-
-
-
-
1Loss-
UHRF1BP1-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
UMOD-
-
-
-
1Loss-
UMODL1-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC45A-
-
-
-
1Loss-
UNC5CL-
-
-
-
1Loss-
UNC5Dp.S315R
Missense
SNP
0.986
1Loss-
UNC80-
-
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1Loss-
ZNF584-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF597-
-
-
-
1Loss-
ZNF599-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF609-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF623-
-
-
-
4Gain-
ZNF629-
-
-
-
1Loss-
ZNF646-
-
-
-
1Loss-
ZNF649-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF668-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF692-
-
-
-
3Gain-
ZNF696-
-
-
-
4Gain-
ZNF7-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF703-
-
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-
1Loss-
ZNF704-
-
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-
3Gain-
ZNF706-
-
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-
3Gain-
ZNF707-
-
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-
4Gain-
ZNF71-
-
-
-
1Loss-
ZNF710-
-
-
-
1Loss-
ZNF720-
-
-
-
1Loss-
ZNF724-
-
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-
1Loss-
ZNF726-
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-
1Loss-
ZNF730-
-
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-
1Loss-
ZNF747-
-
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-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF75Dp.H495Y
Missense
SNP
1.000
NDND-
ZNF76-
-
-
-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF768-
-
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-
1Loss-
ZNF77-
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-
1Loss-
ZNF770-
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-
1Loss-
ZNF771-
-
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-
1Loss-
ZNF772-
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-
1Loss-
ZNF773-
-
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-
1Loss-
ZNF774-
-
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-
1Loss-
ZNF776-
-
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-
1Loss-
ZNF778-
-
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-
1Loss-
ZNF782-
-
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-
1Loss-
ZNF785-
-
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-
1Loss-
ZNF792-
-
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-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF804A-
-
-
-
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
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-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
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-
1Loss-
ZNF831-
-
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-
3Gain-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF841-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNRD1-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZP2-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZRANB3-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN10-
-
-
-
1Loss-
ZSCAN12-
-
-
-
1Loss-
ZSCAN16-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN23-
-
-
-
1Loss-
ZSCAN26-
-
-
-
1Loss-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSCAN31-
-
-
-
1Loss-
ZSCAN32-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSCAN9-
-
-
-
1Loss-
ZSWIM1-
-
-
-
3Gain-
ZSWIM2-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZUP1-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-