PDMR-128128~338-R~L44NT6-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
AARD-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABAT-
-
-
-
1Loss-
ABCA13-
-
-
-
3Gain-
ABCA3-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC1-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC6-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCF1-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
3Gain-
ABHD16A-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABRA-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
ABT1-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004754.1-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005779.2-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007192.1-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008537.1-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC008982.1-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009879.2-
-
-
-
1Loss-
AC009879.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010327.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011448.1-
-
-
-
1Loss-
AC011452.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020907.6-
-
-
-
1Loss-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC020922.1-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022826.2-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC036214.3-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093668.1-
-
-
-
NDNDPMEL--AC093668.1
AC093668.2-
-
-
-
3GainPMEL--AC093668.2
AC093668.3-
-
-
-
3Gain-
AC099489.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC106886.5-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC119396.1-
-
-
-
1Loss-
AC120114.4-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
1Loss-
AC138696.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC140504.1-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC243967.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACIN1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP7-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2A-
-
-
-
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTL9-
-
-
-
1Loss-
ACTN1-
-
-
-
1Loss-
ACTN4-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACYP1-
-
-
-
1Loss-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7p.G355E
Missense
SNP
0.649
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS20p.Q1449*
Nonsense
SNP
0.466
2--
ADAMTS8-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
1Loss-
ADCY1-
-
-
-
3Gain-
ADCY4-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCY8p.G896E
Missense
SNP
0.604
1Loss-
ADCY9-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADGB-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB1-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADHFE1-
-
-
-
1Loss-
ADM5-
-
-
-
1Loss-
ADPRHL1-
-
-
-
3Gain-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AES-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AFPp.G231E
Missense
SNP
0.491
2--
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGER-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
1Loss-
AGO3p.Q442H
Missense
SNP
0.388
2--
AGPAT1-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHI1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHSA1-
-
-
-
1Loss-
AHSP-
-
-
-
1Loss-
AIF1-
-
-
-
3Gain-
AIG1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AJUBA-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AKIRIN2-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKT1-
-
-
-
1Loss-
AKT1S1-
-
-
-
1Loss-
AKT2-
-
-
-
1Loss-
AKTIP-
-
-
-
1Loss-
AL021997.3-
-
-
-
3Gain-
AL024498.2-
-
-
-
3Gain-
AL031315.1-
-
-
-
1Loss-
AL031708.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
3Gain-
AL049697.1-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
3Gain-
AL589666.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
3Gain-
AL645941.2-
-
-
-
3Gain-
AL662899.1-
-
-
-
3Gain-
AL662899.2-
-
-
-
3Gain-
AL669918.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALDH16A1-
-
-
-
1Loss-
ALDH5A1-
-
-
-
3Gain-
ALDH6A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDOA-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG10Bp.R416C
Missense
SNP
0.468
2--
ALKAL1-
-
-
-
1Loss-
ALKBH1-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALKBH6-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALPK2p.P1269S
Missense
SNP
0.503
2--
AMD1-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPT1-
-
-
-
1Loss-
ANGPT2-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANK3p.E2355K
p.R686K
p.R412*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.652
0.526
0.558
2--
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKLE1-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD27-
-
-
-
1Loss-
ANKRD46-
-
-
-
1Loss-
ANKRD6-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1A-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO2p.D322N
Missense
SNP
0.533
2--
ANO8-
-
-
-
1Loss-
ANXA13-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP2A1-
-
-
-
1Loss-
AP2S1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APBA3-
-
-
-
1Loss-
APBB1IPp.G279E
Missense
SNP
0.429
2--
APBB3-
-
-
-
1Loss-
APCp.E2089Q
Missense
SNP
1.000
1Loss-
APC2-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APLP1-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOBR-
-
-
-
1Loss-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APOM-
-
-
-
3Gain-
APOPT1-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP8-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGEF1-
-
-
-
1Loss-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARG2-
-
-
-
1Loss-
ARGLU1-
-
-
-
3Gain-
ARHGAP17-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP32-
-
-
-
1Loss-
ARHGAP33-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP39-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGAP6p.G319E
Missense
SNP
1.000
NDND-
ARHGDIG-
-
-
-
1Loss-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF12-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF35-
-
-
-
3Gain-
ARHGEF37-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARID1B-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL6IP1-
-
-
-
1Loss-
ARMC1-
-
-
-
1Loss-
ARMC10-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMC5-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARMH2-
-
-
-
3Gain-
ARMH4-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
1Loss-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB4-
-
-
-
3Gain-
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNA1-
-
-
-
1Loss-
ASNS-
-
-
-
3Gain-
ASPDH-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
1Loss-
ASPHD1-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD2-
-
-
-
1Loss-
ATAT1-
-
-
-
3Gain-
ATCAYp.E333K
Missense
SNP
0.510
1Loss-
ATF5-
-
-
-
1Loss-
ATF6B-
-
-
-
3Gain-
ATF7IP2-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATL1-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP13A1-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
ATP2A1-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP4A-
-
-
-
1Loss-
ATP4B-
-
-
-
3Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
3Gain-
ATP6V1G2-DDX39B-
-
-
-
3Gain-
ATP6V1H-
-
-
-
1Loss-
ATP8A1p.S829F
Missense
SNP
0.486
2--
ATP8B3-
-
-
-
1Loss-
ATXN1-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AXIN1-
-
-
-
1Loss-
AXL-
-
-
-
1Loss-
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B3GALT4-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B9D2-
-
-
-
1Loss-
BAALC-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAG6-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAIAP3-
-
-
-
1Loss-
BAK1-
-
-
-
3Gain-
BANK1p.E626K
Missense
SNP
0.475
2--
BANP-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BAX-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BAZ1B-
-
-
-
3Gain-
BBC3-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAM-
-
-
-
1Loss-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAT2-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCKDHB-
-
-
-
1Loss-
BCKDK-
-
-
-
1Loss-
BCL11Bp.G207E
Missense
SNP
0.667
1Loss-
BCL2L12-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCL7C-
-
-
-
1Loss-
BCLAF1p.R158K
Missense
SNP
0.352
1Loss-
BCO1-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BFAR-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
1Loss-
BHMG1-
-
-
-
1Loss-
BICDL2-
-
-
-
1Loss-
BICRA-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC8-
-
-
-
1Loss-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLID-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLOC1S5-
-
-
-
3Gain-
BLOC1S5-TXNDC5-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BLVRB-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMP6-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPHL-
-
-
-
3Gain-
BRAFp.V600K
Missense
MNP
0.714
3Gain-
BRAT1-
-
-
-
3Gain-
BRD2-
-
-
-
3Gain-
BRD4-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRICD5-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BRSK1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSPH1-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BTNL2-
-
-
-
3Gain-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BVES-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C11orf45-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C16orf45-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf54-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf47-
-
-
-
1Loss-
C19orf48-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf106p.R333C
Missense
SNP
0.519
NDND-
C1QTNF2-
-
-
-
1Loss-
C1QTNF8-
-
-
-
1Loss-
C2-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C3-
-
-
-
1Loss-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf136-
-
-
-
3Gain-
C6orf15p.P297S
Missense
SNP
0.318
3Gain-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
3Gain-
C6orf203-
-
-
-
1Loss-
C6orf47-
-
-
-
3Gain-
C6orf48-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8orf33-
-
-
-
1Loss-
C8orf34-
-
-
-
1Loss-
C8orf37-
-
-
-
1Loss-
C8orf44-
-
-
-
1Loss-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
1Loss-
C8orf82-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
1Loss-
C8orf89-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
1Loss-
CA11-
-
-
-
1Loss-
CA13-
-
-
-
1Loss-
CA2-
-
-
-
1Loss-
CA3-
-
-
-
1Loss-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABP5-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1H-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CACNG3-
-
-
-
1Loss-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CADM4-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CAGE1-
-
-
-
3Gain-
CALB1-
-
-
-
1Loss-
CALB2-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CALU-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK4-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAP2-
-
-
-
3Gain-
CAPN12-
-
-
-
1Loss-
CAPN15-
-
-
-
1Loss-
CAPNS1-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD8-
-
-
-
1Loss-
CARHSP1-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARS2-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASKIN1-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASP8AP2-
-
-
-
1Loss-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPERBp.G501R
Missense
SNP
0.554
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERG-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLC-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN1-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CC2D1A-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC106-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC114-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC130-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC154-
-
-
-
1Loss-
CCDC155-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC166-
-
-
-
1Loss-
CCDC168-
-
-
-
3Gain-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC189-
-
-
-
1Loss-
CCDC194-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC73p.G106E
Missense
SNP
0.542
2--
CCDC74B-
-
-
-
1Loss-
CCDC78-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC9-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCER2-
-
-
-
1Loss-
CCHCR1-
-
-
-
3Gain-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
1Loss-
CCNF-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCP110-
-
-
-
1Loss-
CCR6p.R286*
Nonsense
SNP
1.000
1Loss-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD109-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD163L1p.W1277*
Nonsense
SNP
0.460
2--
CD164-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD19-
-
-
-
1Loss-
CD1Ep.G152E
Missense
SNP
0.543
2--
CD209-
-
-
-
1Loss-
CD22-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD320-
-
-
-
1Loss-
CD33-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD3EAP-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD79A-
-
-
-
1Loss-
CD83-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC23-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDC42EP5-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH17-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9p.G45S
Missense
SNP
0.326
2--
CDHR3-
-
-
-
3Gain-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDKAL1-
-
-
-
3Gain-
CDKL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDR2-
-
-
-
1Loss-
CDSN-
-
-
-
3Gain-
CDT1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDYL-
-
-
-
3Gain-
CDYL2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5-
-
-
-
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPD-
-
-
-
1Loss-
CEBPE-
-
-
-
1Loss-
CEBPG-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CEP57L1-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP69-
-
-
-
3Gain-
CFB-
-
-
-
3Gain-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFHR3p.N279S
Missense
SNP
0.500
2--
CFHR5p.D535N
Missense
SNP
0.433
2--
CFL2-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGB3-
-
-
-
1Loss-
CGB5-
-
-
-
1Loss-
CGB7-
-
-
-
1Loss-
CGB8-
-
-
-
1Loss-
CGRRF1-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAMP1-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD7-
-
-
-
1Loss-
CHD7-
-
-
-
1Loss-
CHD8-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHL1p.S1196L
Missense
SNP
0.438
2--
CHMP1A-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4C-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHP2-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST8-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF18-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIITA-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN7-
-
-
-
1Loss-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN6-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLDND2-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC16A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLGNp.D400N
Missense
SNP
0.426
2--
CLIC1-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP2-
-
-
-
3Gain-
CLIP3-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLN3-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLRN2p.R167Q
Missense
SNP
0.434
2--
CLU-
-
-
-
1Loss-
CLUAP1-
-
-
-
1Loss-
CLVS1-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBD1-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGB1p.S912F
Missense
SNP
0.583
1Loss-
CNGB3-
-
-
-
1Loss-
CNIH1-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT3-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNR1-
-
-
-
1Loss-
CNTD2-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
CNTNAP5p.G826R
Missense
SNP
0.544
2--
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COCH-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG7-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A2-
-
-
-
3Gain-
COL12A1-
-
-
-
1Loss-
COL14A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL1A2-
-
-
-
3Gain-
COL22A1-
-
-
-
1Loss-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A5p.E1165K
Missense
SNP
1.000
NDND-
COL5A3-
-
-
-
1Loss-
COL9A1-
-
-
-
1Loss-
COLEC10-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD5-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS5-
-
-
-
1Loss-
COPS6-
-
-
-
3Gain-
COQ3-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
COQ7-
-
-
-
1Loss-
COQ8B-
-
-
-
1Loss-
COQ9-
-
-
-
1Loss-
CORO1A-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX6B1-
-
-
-
1Loss-
COX6B2-
-
-
-
1Loss-
COX6C-
-
-
-
1Loss-
COX7A1-
-
-
-
1Loss-
COX7A2-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1p.R247C
Missense
SNP
0.259
3Gain-
CPNE2-
-
-
-
1Loss-
CPNE3-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPPED1-
-
-
-
1Loss-
CPQ-
-
-
-
1Loss-
CPSF1-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CPSF4-
-
-
-
3Gain-
CPT1C-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CRAMP1-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB5-
-
-
-
3Gain-
CREBBP-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CRH-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRISPLD1-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CROT-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRX-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBG1-
-
-
-
1Loss-
CRYGN-
-
-
-
3Gain-
CRYM-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1p.E604K
Missense
SNP
0.324
1Loss-
CSMD3p.W228*
Nonsense
SNP
0.564
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSNK2B-
-
-
-
3Gain-
CSPP1-
-
-
-
1Loss-
CT45A10p.R139Q
Missense
SNP
1.000
NDND-
CTAGE15-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTHRC1-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL4Ap.Q568*
Nonsense
SNP
0.229
3Gain-
CUTA-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CX3CL1-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYC1-
-
-
-
1Loss-
CYCS-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYHR1-
-
-
-
1Loss-
CYLDp.L388F
Missense
SNP
0.657
1Loss-
CYP11B1-
-
-
-
1Loss-
CYP11B2-
-
-
-
1Loss-
CYP1A1p.D436N
Missense
SNP
0.464
2--
CYP21A2-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2C19p.E81K
Missense
SNP
0.500
2--
CYP2F1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3p.P415S
Missense
SNP
0.473
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
1Loss-
CYP7B1-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH2-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
DAAM1-
-
-
-
1Loss-
DAB1-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DAND5-
-
-
-
1Loss-
DAOA-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DAXX-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DBP-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF13-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCAF4-
-
-
-
1Loss-
DCAF4L2p.E247K
Missense
SNP
0.610
1Loss-
DCAF5-
-
-
-
1Loss-
DCANP1-
-
-
-
1Loss-
DCBLD1-
-
-
-
1Loss-
DCDC1p.E445K
Missense
SNP
0.389
2--
DCDC2-
-
-
-
3Gain-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCSTAMP-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D2-
-
-
-
3Gain-
DCUN1D3-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDAH2-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX39B-
-
-
-
3Gain-
DDX43-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX56-
-
-
-
3Gain-
DECR1-
-
-
-
1Loss-
DECR2-
-
-
-
1Loss-
DEDD2-
-
-
-
1Loss-
DEF6-
-
-
-
3Gain-
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-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DEK-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
1Loss-
DENND4C-
-
-
-
1Loss-
DEPTOR-
-
-
-
1Loss-
DERL1-
-
-
-
1Loss-
DGAT1-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DGLUCY-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX34-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLGAP2-
-
-
-
1Loss-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL1-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMAC2-
-
-
-
1Loss-
DMKN-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMRTC2-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
1Loss-
DMWD-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF3-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH3-
-
-
-
1Loss-
DNAH5p.S3132F
p.G920E
Missense
Missense
SNP
SNP
0.552
0.484
2--
DNAH6p.L3517F
Missense
SNP
0.422
2--
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC10p.P586L
Missense
SNP
0.500
2--
DNAJC18-
-
-
-
1Loss-
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5B-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNASE1-
-
-
-
3Gain-
DNASE1L2-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DOC2A-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPP6-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA5-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPY19L1-
-
-
-
3Gain-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
1Loss-
DPYS-
-
-
-
1Loss-
DPYSL2-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DSCC1-
-
-
-
1Loss-
DSE-
-
-
-
1Loss-
DSP-
-
-
-
3Gain-
DTD2-
-
-
-
1Loss-
DTNAp.S713F
Missense
SNP
0.542
2--
DTNBP1-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
1Loss-
DUSP22-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27p.E835K
Missense
SNP
0.463
2--
DUSP4-
-
-
-
1Loss-
DUSP6p.Q270H
Missense
SNP
0.469
2--
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DXO-
-
-
-
3Gain-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK1B-
-
-
-
1Loss-
DYTNp.X162_splice
Splice_Site
SNP
0.448
2--
E2F3-
-
-
-
3Gain-
E2F4-
-
-
-
1Loss-
E2F5-
-
-
-
1Loss-
E4F1p.A385T
Missense
SNP
0.573
1Loss-
EAPP-
-
-
-
1Loss-
EARS2-
-
-
-
1Loss-
EBAG9-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
ECH1-
-
-
-
1Loss-
ECHDC1-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
ECI2-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECSIT-
-
-
-
1Loss-
ECT2L-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDN1-
-
-
-
3Gain-
EEF1A1-
-
-
-
1Loss-
EEF1D-
-
-
-
1Loss-
EEF1E1-
-
-
-
3Gain-
EEF1E1-BLOC1S5-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
1Loss-
EFCAB10-
-
-
-
3Gain-
EFCAB11-
-
-
-
1Loss-
EFCAB9-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFNB2-
-
-
-
3Gain-
EFR3A-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGFL8-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN2-
-
-
-
1Loss-
EGLN3-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHD2-
-
-
-
1Loss-
EHMT2-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EID2-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2B2-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3E-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3H-
-
-
-
1Loss-
EIF3K-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELL-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOB-
-
-
-
1Loss-
ELOC-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL2-
-
-
-
3Gain-
ELOVL4-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELSPBP1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC2-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EML1-
-
-
-
1Loss-
EML2-
-
-
-
1Loss-
EML5p.R370C
Missense
SNP
0.586
1Loss-
EMP2-
-
-
-
1Loss-
EMP3-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENKD1-
-
-
-
1Loss-
ENPEPp.E378K
p.S766L
Missense
Missense
SNP
SNP
0.535
0.485
2--
ENPP1-
-
-
-
1Loss-
ENPP2-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP4p.D199N
Missense
SNP
0.548
2--
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENY2-
-
-
-
1Loss-
EPB41L2-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA7-
-
-
-
1Loss-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPO-
-
-
-
3Gain-
EPOR-
-
-
-
1Loss-
EPPK1-
-
-
-
1Loss-
EPS15L1-
-
-
-
1Loss-
EPS8L1-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERC2p.E832K
p.E718K
Missense
Missense
SNP
SNP
0.584
0.564
2--
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC4-
-
-
-
1Loss-
ERCC5-
-
-
-
3Gain-
ERF-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH4-
-
-
-
1Loss-
ERICH5-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERN2-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESCO2-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRP1p.T292I
Missense
SNP
0.272
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFB-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV2-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXD2-
-
-
-
1Loss-
EXOC2-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC3L2-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC5-
-
-
-
1Loss-
EXOSC4-
-
-
-
1Loss-
EXOSC5-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXT1-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EZH1p.R557C
Missense
SNP
0.531
2--
EZH2-
-
-
-
3Gain-
EZR-
-
-
-
1Loss-
F10-
-
-
-
3Gain-
F13A1-
-
-
-
3Gain-
F2RL3-
-
-
-
1Loss-
F5p.T149I
Missense
SNP
0.480
2--
F7-
-
-
-
3Gain-
FA2H-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP12-
-
-
-
1Loss-
FABP4-
-
-
-
1Loss-
FABP5-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FABP7-
-
-
-
1Loss-
FABP9-
-
-
-
1Loss-
FAHD1-
-
-
-
1Loss-
FAM110B-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117Bp.R235W
Missense
SNP
0.480
2--
FAM118B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM129C-
-
-
-
1Loss-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135A-
-
-
-
1Loss-
FAM135B-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM155A-
-
-
-
3Gain-
FAM160B2-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM173A-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM181A-
-
-
-
1Loss-
FAM184A-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM187B-
-
-
-
1Loss-
FAM192A-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM217A-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM229B-
-
-
-
1Loss-
FAM234A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM49B-
-
-
-
1Loss-
FAM50B-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM57B-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71E1-
-
-
-
1Loss-
FAM71E2-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM83Ap.R153H
Missense
SNP
0.686
1Loss-
FAM83Bp.E302K
Missense
SNP
0.516
2--
FAM83E-
-
-
-
1Loss-
FAM83H-
-
-
-
1Loss-
FAM84B-
-
-
-
1Loss-
FAM86B1-
-
-
-
1Loss-
FAM8A1-
-
-
-
3Gain-
FAM91A1-
-
-
-
1Loss-
FAM92A-
-
-
-
0Del-
FAM92B-
-
-
-
1Loss-
FAM98C-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCE-
-
-
-
3Gain-
FANCM-
-
-
-
1Loss-
FARS2-
-
-
-
3Gain-
FARSA-
-
-
-
1Loss-
FASTK-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBL-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBRS-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL16-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL19-
-
-
-
1Loss-
FBXL4-
-
-
-
1Loss-
FBXL6-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO17-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
1Loss-
FBXO27-
-
-
-
1Loss-
FBXO30-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
1Loss-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO43-
-
-
-
1Loss-
FBXO46-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCARp.S35L
Missense
SNP
0.355
1Loss-
FCER2-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCGBP-
-
-
-
1Loss-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER1L6-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FERMT2-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF14-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF21-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FHL5-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FILIP1-
-
-
-
1Loss-
FIS1-
-
-
-
3Gain-
FITM1-
-
-
-
1Loss-
FIZ1-
-
-
-
1Loss-
FKBP14-
-
-
-
3Gain-
FKBP1C-
-
-
-
1Loss-
FKBP3-
-
-
-
1Loss-
FKBP5-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP8-
-
-
-
1Loss-
FKBP9-
-
-
-
3Gain-
FKBPL-
-
-
-
3Gain-
FKRP-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
3Gain-
FLRT2-
-
-
-
1Loss-
FLT3LG-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FNDC1-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOPNL-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSB-
-
-
-
1Loss-
FOXA1-
-
-
-
1Loss-
FOXA3-
-
-
-
1Loss-
FOXC1-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXF2-
-
-
-
3Gain-
FOXG1-
-
-
-
1Loss-
FOXH1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXK2p.R314C
Missense
SNP
0.422
2--
FOXL1-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXQ1-
-
-
-
3Gain-
FOXRED1-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGT-TNNI3Kp.E415K
Missense
SNP
0.435
2--
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FSBP-
-
-
-
1Loss-
FSCB-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FUT1-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FUZ-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD3-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD7-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FZD1-
-
-
-
3Gain-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
G2E3-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
GAB3p.E79K
Missense
SNP
1.000
NDND-
GABARAPL2-
-
-
-
1Loss-
GABBR1-
-
-
-
3Gain-
GABRA1p.S271F
Missense
SNP
1.000
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALC-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT16-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALP-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GAPDH-
-
-
-
2-GAPDHP17--GAPDH
GAPDHP17-
-
-
-
NDNDGAPDHP17--GAPDH
GAPDHS-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GATAD2A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCDH-
-
-
-
1Loss-
GCH1-
-
-
-
1Loss-
GCK-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP1-
-
-
-
1Loss-
GDE1-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF6-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDPD3-
-
-
-
1Loss-
GEM-
-
-
-
1Loss-
GEMIN2-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFER-
-
-
-
1Loss-
GFOD1-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFY-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
1Loss-
GGN-
-
-
-
1Loss-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINM1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJB7-
-
-
-
1Loss-
GJC3-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
1Loss-
GLIS2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLYATp.S249F
Missense
SNP
0.494
2--
GLYR1-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GML-
-
-
-
1Loss-
GMNN-
-
-
-
3Gain-
GMPR-
-
-
-
3Gain-
GMPR2-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG13-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNL1-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNPTG-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GOPC-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP2-
-
-
-
1Loss-
GP6-
-
-
-
1Loss-
GPAA1-
-
-
-
1Loss-
GPANK1-
-
-
-
3Gain-
GPAT4-
-
-
-
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPIHBP1-
-
-
-
1Loss-
GPLD1-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR108-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR151-
-
-
-
1Loss-
GPR20-
-
-
-
1Loss-
GPR22-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR32-
-
-
-
1Loss-
GPR33-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
1Loss-
GPR6-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPRC5B-
-
-
-
1Loss-
GPRC6A-
-
-
-
1Loss-
GPSM3-
-
-
-
3Gain-
GPT-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GRAMD1A-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRHL2-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRID2p.R768W
Missense
SNP
0.533
2--
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIK5-
-
-
-
1Loss-
GRIN2A-
-
-
-
1Loss-
GRIN2D-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
1Loss-
GRK1-
-
-
-
3Gain-
GRM1-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM4-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GRWD1-
-
-
-
1Loss-
GRXCR1p.S220L
Missense
SNP
0.362
2--
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSC-
-
-
-
1Loss-
GSDMC-
-
-
-
1Loss-
GSDMD-
-
-
-
1Loss-
GSDME-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSPT1-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTZ1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H4-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C1-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTPBP10-
-
-
-
3Gain-
GTPBP3-
-
-
-
1Loss-
GUCY1A2p.P313S
Missense
SNP
0.487
2--
GUSB-
-
-
-
3Gain-
GVQW2-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAMP-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAS2-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS5-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HBQ1-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCN2-
-
-
-
1Loss-
HCST-
-
-
-
1Loss-
HDAC2-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDDC2-
-
-
-
1Loss-
HDGFL1-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HEATR3-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECW1-
-
-
-
3Gain-
HEPACAM-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HEPN1-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HESX1p.P37S
Missense
SNP
0.520
2--
HEY1-
-
-
-
1Loss-
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHIPp.D431N
Missense
SNP
0.486
2--
HHIPL1-
-
-
-
1Loss-
HHLA1-
-
-
-
1Loss-
HIBADH-
-
-
-
3Gain-
HID1p.D157N
Missense
SNP
0.530
2--
HIF1A-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIPK4-
-
-
-
1Loss-
HIRIP3-
-
-
-
1Loss-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H2BC-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
3Gain-
HIST1H2BE-
-
-
-
3Gain-
HIST1H2BF-
-
-
-
3Gain-
HIST1H2BG-
-
-
-
3Gain-
HIST1H2BH-
-
-
-
3Gain-
HIST1H2BI-
-
-
-
3Gain-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3B-
-
-
-
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3D-
-
-
-
3Gain-
HIST1H3E-
-
-
-
3Gain-
HIST1H3F-
-
-
-
3Gain-
HIST1H3G-
-
-
-
3Gain-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST1H4C-
-
-
-
3Gain-
HIST1H4D-
-
-
-
3Gain-
HIST1H4E-
-
-
-
3Gain-
HIST1H4F-
-
-
-
3Gain-
HIST1H4G-
-
-
-
3Gain-
HIST1H4H-
-
-
-
3Gain-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIVEP1-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLA-A-
-
-
-
3Gain-
HLA-B-
-
-
-
3Gain-
HLA-C-
-
-
-
3Gain-
HLA-DMA-
-
-
-
3Gain-
HLA-DMB-
-
-
-
3Gain-
HLA-DOA-
-
-
-
3Gain-
HLA-DOB-
-
-
-
3Gain-
HLA-DPA1-
-
-
-
3Gain-
HLA-DPB1-
-
-
-
3Gain-
HLA-DQA1-
-
-
-
3Gain-
HLA-DQA2-
-
-
-
3Gain-
HLA-DQB1-
-
-
-
3Gain-
HLA-DQB2-
-
-
-
3Gain-
HLA-DRA-
-
-
-
3Gain-
HLA-DRB1-
-
-
-
3Gain-
HLA-DRB5-
-
-
-
3Gain-
HLA-E-
-
-
-
3Gain-
HLA-F-
-
-
-
3Gain-
HLA-G-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGA1-
-
-
-
3Gain-
HMGCLL1p.L291F
Missense
SNP
0.457
2--
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HNF4G-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPC-
-
-
-
1Loss-
HNRNPL-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HNRNPUL1-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HPN-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRC-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST2-
-
-
-
1Loss-
HS3ST4-
-
-
-
1Loss-
HS3ST5-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B8-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
1Loss-
HSF2-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPA2-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB6-
-
-
-
1Loss-
HSPBP1-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1Ep.D271N
Missense
SNP
1.000
1Loss-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTRA1p.E430K
Missense
SNP
0.281
2--
HTRA4-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HUS1B-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ID4-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IER3-
-
-
-
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI30-
-
-
-
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-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT140-
-
-
-
1Loss-
IFT22-
-
-
-
3Gain-
IFT43-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGF2R-
-
-
-
1Loss-
IGFALS-
-
-
-
1Loss-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV3-30p.F3Y
Missense
SNP
0.357
NDND-
IGHV3-72-
-
-
-
1Loss-
IGHV3OR16-8p.G61E
Missense
SNP
0.368
NDND-
IGHV3OR16-9-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGLON5-
-
-
-
1Loss-
IGSF1p.G1026E
Missense
SNP
1.000
NDND-
IGSF23-
-
-
-
1Loss-
IGSF6-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF1-
-
-
-
3Gain-
IL11-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL20RA-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL27-
-
-
-
1Loss-
IL27RA-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL4I1-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILF3-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
1Loss-
IMPAD1-
-
-
-
1Loss-
IMPDH1-
-
-
-
3Gain-
IMPG1-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING1-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80E-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS8-
-
-
-
1Loss-
INTS9-
-
-
-
1Loss-
IP6K3-
-
-
-
3Gain-
IPCEF1-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IQANK1-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF4-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS2-
-
-
-
3Gain-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISM2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISOC2-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITGAD-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAM-
-
-
-
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
3Gain-
ITK-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPKC-
-
-
-
1Loss-
ITPR3-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITPRIPL2-
-
-
-
1Loss-
IVLp.S12F
Missense
SNP
0.455
2--
IYD-
-
-
-
1Loss-
IZUMO1-
-
-
-
1Loss-
IZUMO2-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAMLp.R184C
Missense
SNP
0.455
2--
JARID2-
-
-
-
3Gain-
JAZF1-
-
-
-
3Gain-
JDP2-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JMJD8-
-
-
-
1Loss-
JOSD2-
-
-
-
1Loss-
JPH1-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JPT2-
-
-
-
1Loss-
JRK-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KAAG1-
-
-
-
3Gain-
KANK1-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KAT8-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD2-
-
-
-
3Gain-
KCNA7-
-
-
-
1Loss-
KCNB2-
-
-
-
1Loss-
KCNC3-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNE1B-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH2-
-
-
-
3Gain-
KCNH5-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ14-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK6-
-
-
-
1Loss-
KCNK9-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNN1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN4-
-
-
-
1Loss-
KCNQ3p.F712V
Missense
SNP
0.282
1Loss-
KCNQ5-
-
-
-
1Loss-
KCNS2-
-
-
-
1Loss-
KCNT2p.G679E
Missense
SNP
0.483
2--
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
1Loss-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD13-
-
-
-
1Loss-
KCTD15-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KCTD7-
-
-
-
3Gain-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
3Gain-
KDELR1-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDM1B-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDM8-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDRBS3-
-
-
-
1Loss-
KHNYN-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0319-
-
-
-
3Gain-
KIAA0355-
-
-
-
1Loss-
KIAA0391-
-
-
-
1Loss-
KIAA0408-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIAA1551p.P869L
p.P1209S
Missense
Missense
SNP
SNP
0.387
0.497
2--
KIAA2026-
-
-
-
1Loss-
KIF13A-
-
-
-
3Gain-
KIF13B-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIFC1-
-
-
-
3Gain-
KIFC2-
-
-
-
1Loss-
KIFC3-
-
-
-
1Loss-
KIR2DL1-
-
-
-
1Loss-
KIR2DL3-
-
-
-
1Loss-
KIR2DL4p.G219E
Missense
SNP
0.398
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL2-
-
-
-
1Loss-
KIRREL3-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF10-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLK1-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK15-
-
-
-
1Loss-
KLK2-
-
-
-
1Loss-
KLK3-
-
-
-
1Loss-
KLK4-
-
-
-
1Loss-
KLK5-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMT2B-
-
-
-
1Loss-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5C-
-
-
-
1Loss-
KNOP1-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRBA1-
-
-
-
3Gain-
KREMEN2-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRT35p.R130C
Missense
SNP
0.495
2--
KRT6Ap.W195*
Nonsense
SNP
0.527
2--
KRTDAP-
-
-
-
1Loss-
KSR2p.G575E
Missense
SNP
0.363
2--
KTN1-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L34079.1-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL3-
-
-
-
1Loss-
LACRTp.G113E
Missense
SNP
0.440
2--
LACTB2-
-
-
-
1Loss-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LAMA2-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMP1-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LATS1-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCMT1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEMD2-
-
-
-
3Gain-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LEUTX-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS4-
-
-
-
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGI1p.P203S
Missense
SNP
0.471
2--
LGI3-
-
-
-
1Loss-
LGI4-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGSN-
-
-
-
1Loss-
LHB-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LIG1-
-
-
-
1Loss-
LIG4-
-
-
-
3Gain-
LILRA1-
-
-
-
1Loss-
LILRA2-
-
-
-
1Loss-
LILRA4-
-
-
-
1Loss-
LILRA5-
-
-
-
1Loss-
LILRA6-
-
-
-
1Loss-
LILRB1-
-
-
-
1Loss-
LILRB2-
-
-
-
1Loss-
LILRB3-
-
-
-
1Loss-
LILRB4-
-
-
-
1Loss-
LILRB5-
-
-
-
1Loss-
LIM2-
-
-
-
1Loss-
LIMK1-
-
-
-
3Gain-
LIN28B-
-
-
-
1Loss-
LIN37-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7B-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LIPE-
-
-
-
1Loss-
LITAF-
-
-
-
1Loss-
LLCFC1-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMBRD1-
-
-
-
1Loss-
LMF1-
-
-
-
1Loss-
LMLN2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMTK3-
-
-
-
1Loss-
LONP1-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LRCH4-
-
-
-
3Gain-
LRFN1-
-
-
-
1Loss-
LRFN3-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIF1p.T707I
Missense
SNP
0.416
2--
LRP10-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRP12-
-
-
-
1Loss-
LRP3-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC14-
-
-
-
1Loss-
LRRC17-
-
-
-
3Gain-
LRRC19-
-
-
-
1Loss-
LRRC24-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC4B-
-
-
-
1Loss-
LRRC6-
-
-
-
1Loss-
LRRC61-
-
-
-
3Gain-
LRRC69-
-
-
-
1Loss-
LRRC7p.G1398E
Missense
SNP
0.500
2--
LRRC72-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
1Loss-
LRRD1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM14A-
-
-
-
1Loss-
LSM2-
-
-
-
3Gain-
LSM4-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSR-
-
-
-
1Loss-
LST1-
-
-
-
3Gain-
LTA-
-
-
-
3Gain-
LTB-
-
-
-
3Gain-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP4-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LUC7L-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LY6D-
-
-
-
1Loss-
LY6E-
-
-
-
1Loss-
LY6G5B-
-
-
-
3Gain-
LY6G5C-
-
-
-
3Gain-
LY6G6C-
-
-
-
3Gain-
LY6G6D-
-
-
-
3Gain-
LY6G6E-
-
-
-
3Gain-
LY6G6F-
-
-
-
3Gain-
LY6G6F-LY6G6D-
-
-
-
3Gain-
LY6H-
-
-
-
1Loss-
LY6K-
-
-
-
1Loss-
LY6L-
-
-
-
1Loss-
LY86-
-
-
-
3Gain-
LY9p.E409K
Missense
SNP
0.475
2--
LY96-
-
-
-
1Loss-
LYL1-
-
-
-
1Loss-
LYN-
-
-
-
1Loss-
LYNX1-
-
-
-
1Loss-
LYNX1-SLURP2-
-
-
-
1Loss-
LYPD2-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPLA1-
-
-
-
1Loss-
LYRM1-
-
-
-
1Loss-
LYRM2-
-
-
-
1Loss-
LYRM4-
-
-
-
3Gain-
LYRM7-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MAF-
-
-
-
1Loss-
MAF1-
-
-
-
1Loss-
MAFA-
-
-
-
1Loss-
MAFK-
-
-
-
3Gain-
MAG-
-
-
-
1Loss-
MAGEA11p.S413F
Missense
SNP
1.000
NDND-
MAGI2-
-
-
-
3Gain-
MAK-
-
-
-
3Gain-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MAMSTR-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K10-
-
-
-
1Loss-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4K1-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAP7-
-
-
-
1Loss-
MAP7D3p.S233L
Missense
SNP
1.000
NDND-
MAPK15-
-
-
-
1Loss-
MAPK1IP1L-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
1Loss-
MARCH2-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARF1-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MARK4-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
3Gain-
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN2-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MAX-
-
-
-
1Loss-
MAZ-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBOAT1-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MBOAT7-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MBTPS2-
-
-
-
NDNDMBTPS2--RNA5-8SN2
MC1R-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCD1-
-
-
-
3Gain-
MCEMP1-
-
-
-
1Loss-
MCF2L-
-
-
-
3Gain-
MCHR2-
-
-
-
1Loss-
MCM4-
-
-
-
1Loss-
MCM7-
-
-
-
3Gain-
MCM9-
-
-
-
1Loss-
MCMDC2-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCRIP2-
-
-
-
1Loss-
MCUR1-
-
-
-
3Gain-
MDC1-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDGA2-
-
-
-
1Loss-
MDH2-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
MECOMp.P323S
p.S321L
Missense
Missense
SNP
SNP
0.412
0.405
2--
MED16-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED25-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED29-
-
-
-
1Loss-
MED30-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEFV-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF8-
-
-
-
1Loss-
MEIOB-
-
-
-
1Loss-
MEIS3-
-
-
-
1Loss-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METRN-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL21C-
-
-
-
3Gain-
METTL22-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL3-
-
-
-
1Loss-
METTL9-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN2-
-
-
-
2-RNA5-8SN2--MFN2
MFSD12-
-
-
-
1Loss-
MFSD3-
-
-
-
1Loss-
MFSD4B-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT2-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MIA2-
-
-
-
1Loss-
MICA-
-
-
-
3Gain-
MICAL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICBp.D358N
Missense
SNP
0.297
3Gain-
MICU3-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIPOL1-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLN-
-
-
-
3Gain-
MLST8-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMP14-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP16-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP25-
-
-
-
1Loss-
MMS22L-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOAP1-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOG-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOK-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MOS-
-
-
-
1Loss-
MOSMO-
-
-
-
1Loss-
MOSPD3-
-
-
-
3Gain-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPIG6B-
-
-
-
3Gain-
MPLp.P136S
Missense
SNP
0.559
2--
MPLKIP-
-
-
-
3Gain-
MPND-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP6-
-
-
-
3Gain-
MPV17L-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MROH1-
-
-
-
1Loss-
MROH5-
-
-
-
1Loss-
MROH6-
-
-
-
1Loss-
MRPL13-
-
-
-
1Loss-
MRPL15-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL28-
-
-
-
1Loss-
MRPL32-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS12-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS18B-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS28-
-
-
-
1Loss-
MRPS33-
-
-
-
3Gain-
MRPS34-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MRTFB-
-
-
-
1Loss-
MS4A2p.E180K
Missense
SNP
0.438
2--
MSANTD2-
-
-
-
1Loss-
MSC-
-
-
-
1Loss-
MSH5-
-
-
-
3Gain-
MSH5-SAPCD1-
-
-
-
3Gain-
MSLN-
-
-
-
1Loss-
MSLNL-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
1Loss-
MTDH-
-
-
-
1Loss-
MTERF1-
-
-
-
3Gain-
MTERF3-
-
-
-
1Loss-
MTFR1-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTHFD1-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTSS1-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MUC12-
-
-
-
3Gain-
MUC16p.S6948F
p.G1213E
Missense
Missense
SNP
SNP
0.441
0.508
1Loss-
MUC17-
-
-
-
3Gain-
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MUCL3-
-
-
-
3Gain-
MUM1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MVP-
-
-
-
1Loss-
MXRA5p.D2195N
Missense
SNP
1.000
NDND-
MYADM-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBL1-
-
-
-
1Loss-
MYBPC2-
-
-
-
1Loss-
MYC-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYF5p.R213Q
Missense
SNP
0.464
2--
MYH11-
-
-
-
1Loss-
MYH14-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLIP-
-
-
-
3Gain-
MYLK3-
-
-
-
1Loss-
MYLK4-
-
-
-
3Gain-
MYLPF-
-
-
-
1Loss-
MYO16-
-
-
-
3Gain-
MYO1F-
-
-
-
1Loss-
MYO1G-
-
-
-
3Gain-
MYO5Cp.S266F
Missense
SNP
0.447
2--
MYO6-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOFp.E1214K
Missense
SNP
0.551
2--
MYOM2-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA60-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NACC1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NANOS2-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
1Loss-
NAPSA-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT14-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
1Loss-
NAXD-
-
-
-
3Gain-
NBN-
-
-
-
1Loss-
NCALD-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCCRP1-
-
-
-
1Loss-
NCF1-
-
-
-
3Gain-
NCLN-
-
-
-
1Loss-
NCOA2-
-
-
-
1Loss-
NCOA7-
-
-
-
1Loss-
NCR1-
-
-
-
1Loss-
NCR3-
-
-
-
3Gain-
NDE1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDRG1-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA7-
-
-
-
1Loss-
NDUFAB1-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFAF6-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB7-
-
-
-
1Loss-
NDUFB9-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NEBp.G5718R
Missense
SNP
0.463
2--
NECAB1-
-
-
-
1Loss-
NECAB2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEDD9-
-
-
-
3Gain-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK9-
-
-
-
1Loss-
NELFE-
-
-
-
3Gain-
NELL2p.R389Q
Missense
SNP
0.580
2--
NEMF-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU1-
-
-
-
3Gain-
NEURL1p.P36L
Missense
SNP
0.485
2--
NEURL1B-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC2IP-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFE2L1p.L122F
Missense
SNP
0.413
2--
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFKBIB-
-
-
-
1Loss-
NFKBID-
-
-
-
1Loss-
NFKBIL1-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NHLRC1-
-
-
-
3Gain-
NHLRC4-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL2-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NKAIN2-
-
-
-
1Loss-
NKAIN3-
-
-
-
1Loss-
NKAPL-
-
-
-
3Gain-
NKD1-
-
-
-
1Loss-
NKG7-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKX2-1-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLRC3-
-
-
-
1Loss-
NLRC5p.E947K
Missense
SNP
0.544
1Loss-
NLRP11-
-
-
-
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13-
-
-
-
1Loss-
NLRP2-
-
-
-
1Loss-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8-
-
-
-
1Loss-
NLRP9-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME8-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NMRK2-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOD2-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL6p.R723W
Missense
SNP
0.583
2--
NOL7-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS3-
-
-
-
3Gain-
NOSIP-
-
-
-
1Loss-
NOTCH3-
-
-
-
1Loss-
NOTCH4-
-
-
-
3Gain-
NOV-
-
-
-
1Loss-
NOVA1-
-
-
-
1Loss-
NOVA2-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOXO1-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAS1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPBWR1-
-
-
-
1Loss-
NPC1L1-
-
-
-
3Gain-
NPC2-
-
-
-
1Loss-
NPHS1-
-
-
-
1Loss-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPRL3-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPW-
-
-
-
1Loss-
NPY-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NQO2-
-
-
-
3Gain-
NR1H2-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NRBP2-
-
-
-
1Loss-
NRCAM-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRM-
-
-
-
3Gain-
NRN1-
-
-
-
3Gain-
NRN1L-
-
-
-
1Loss-
NRSN1-
-
-
-
3Gain-
NRTN-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSMAF-
-
-
-
1Loss-
NSMCE1p.S256L
Missense
SNP
0.462
1Loss-
NSMCE2-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5DC1-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NTAN1-
-
-
-
1Loss-
NTF4-
-
-
-
1Loss-
NTHL1-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTN5-
-
-
-
1Loss-
NUB1-
-
-
-
3Gain-
NUBP1-
-
-
-
1Loss-
NUBP2-
-
-
-
1Loss-
NUBPL-
-
-
-
1Loss-
NUCB1-
-
-
-
1Loss-
NUDCD1-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT14-
-
-
-
1Loss-
NUDT16L1-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT19-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT3-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUMB-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP153-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210Lp.H477Y
Missense
SNP
0.486
2--
NUP43-
-
-
-
1Loss-
NUP62-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR1-
-
-
-
1Loss-
NUPR2-
-
-
-
3Gain-
NUS1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NWD1-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
NYNRIN-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OC90-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF1-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGFOD1-
-
-
-
1Loss-
OGFRL1-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFM3p.R237Q
Missense
SNP
0.462
2--
OLIG3-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPLAH-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPRK1-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OR10C1-
-
-
-
3Gain-
OR10D3-
-
-
-
1Loss-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR11A1-
-
-
-
3Gain-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR12D2-
-
-
-
3Gain-
OR12D3-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR1F1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14p.E179K
Missense
SNP
0.291
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A4-
-
-
-
1Loss-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2C1-
-
-
-
1Loss-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2H1-
-
-
-
3Gain-
OR2H2-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2L5p.L42V
Missense
SNP
0.457
2--
OR2W1-
-
-
-
3Gain-
OR2Y1p.G2E
Missense
SNP
0.469
2--
OR2Z1p.V273L
Missense
SNP
0.488
1Loss-
OR4D5-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4K1p.W309*
Nonsense
SNP
0.593
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1p.S53L
Missense
SNP
0.277
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2p.L289F
Missense
SNP
0.653
1Loss-
OR4N5-
-
-
-
1Loss-
OR4P4p.M96I
Missense
SNP
0.991
2--
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR56A3p.S189F
Missense
SNP
0.496
2--
OR5AU1-
-
-
-
1Loss-
OR5H14p.W50*
Nonsense
SNP
0.558
2--
OR5H2p.R127C
Missense
SNP
0.640
2--
OR5L2p.S93F
Missense
SNP
0.502
2--
OR5V1-
-
-
-
3Gain-
OR6B1-
-
-
-
3Gain-
OR6J1-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC3-
-
-
-
1Loss-
ORC5-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
OSBPL3-
-
-
-
3Gain-
OSCAR-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
1Loss-
OSR2-
-
-
-
1Loss-
OSTM1-
-
-
-
1Loss-
OTOA-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD6B-
-
-
-
1Loss-
OTX2-
-
-
-
1Loss-
OVOL3-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXR1-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
PABPC1-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN1-
-
-
-
3Gain-
PAF1-
-
-
-
1Loss-
PAFAH1B3-
-
-
-
1Loss-
PAG1-
-
-
-
1Loss-
PAGR1-
-
-
-
1Loss-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK4-
-
-
-
1Loss-
PAK5p.E79K
Missense
SNP
0.446
2--
PALB2-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAM16-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAQR4-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARN-
-
-
-
1Loss-
PARP10-
-
-
-
1Loss-
PARP12-
-
-
-
3Gain-
PARP2-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAX9-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBX2-
-
-
-
3Gain-
PBX4-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH15p.D1175N
Missense
SNP
0.595
2--
PCDH18p.E1114K
p.P1065S
Missense
Missense
SNP
SNP
0.477
0.462
2--
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3p.S174F
Missense
SNP
1.000
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1p.H606Y
Missense
SNP
1.000
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4p.L822R
Missense
SNP
1.000
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCID2-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCOLCE-
-
-
-
3Gain-
PCP2-
-
-
-
1Loss-
PCSK2p.S330F
Missense
SNP
0.442
2--
PCSK4-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PDAP1-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDCD2L-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE1Cp.D504N
Missense
SNP
0.318
3Gain-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE7A-
-
-
-
1Loss-
PDE7B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFRBp.A916V
Missense
SNP
1.000
1Loss-
PDGFRL-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDILT-
-
-
-
1Loss-
PDK4-
-
-
-
3Gain-
PDLIM2-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDP1-
-
-
-
0Del-
PDP2-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDXDC1-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PEG3-
-
-
-
1Loss-
PELI2-
-
-
-
1Loss-
PENK-
-
-
-
1Loss-
PEPD-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PEX11G-
-
-
-
1Loss-
PEX2-
-
-
-
1Loss-
PEX3-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN6-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGBD1-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGM3-
-
-
-
1Loss-
PGP-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PHACTR1-
-
-
-
3Gain-
PHACTR2-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHF1-
-
-
-
3Gain-
PHF10-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF20L1-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHKG2-
-
-
-
1Loss-
PHLDB3-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIH1D1-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3R2-
-
-
-
1Loss-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIN1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKHD1L1p.H923Y
p.G1278E
p.W2625*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.662
0.578
0.355
1Loss-
PKIA-
-
-
-
1Loss-
PKIB-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PKN1-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PLA2G10-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G4C-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAG1-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLAT-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLCG2-
-
-
-
1Loss-
PLD3-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLEC-
-
-
-
1Loss-
PLEK2-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA4-
-
-
-
1Loss-
PLEKHA8-
-
-
-
3Gain-
PLEKHD1-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG2-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMEL-
-
-
-
2-PMEL--AC093668.1
PMEL--AC093668.2
PMFBP1-
-
-
-
1Loss-
PMM2-
-
-
-
1Loss-
PMP2-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNISR-
-
-
-
1Loss-
PNKP-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNRC1-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD1-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLE2-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLR2C-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2I-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
1Loss-
POLR3D-
-
-
-
1Loss-
POLR3E-
-
-
-
1Loss-
POLR3K-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2-
-
-
-
3Gain-
POMK-
-
-
-
1Loss-
POMT2-
-
-
-
1Loss-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
1Loss-
POP4-
-
-
-
1Loss-
POP7-
-
-
-
3Gain-
POPDC3-
-
-
-
1Loss-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEF-
-
-
-
1Loss-
POTEG-
-
-
-
1Loss-
POTEM-
-
-
-
1Loss-
POU2F2-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARD-
-
-
-
3Gain-
PPARGC1B-
-
-
-
1Loss-
PPDPFL-
-
-
-
1Loss-
PPFIA3-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPP1R10-
-
-
-
3Gain-
PPP1R11-
-
-
-
3Gain-
PPP1R12C-
-
-
-
1Loss-
PPP1R13B-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R15A-
-
-
-
1Loss-
PPP1R16A-
-
-
-
1Loss-
PPP1R17-
-
-
-
3Gain-
PPP1R18-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R36-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP1R3G-
-
-
-
3Gain-
PPP1R42-
-
-
-
1Loss-
PPP1R9A-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R1A-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6R1-
-
-
-
1Loss-
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRDM1-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM14-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDX2-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREP-
-
-
-
1Loss-
PREX2-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKAG2-
-
-
-
3Gain-
PRKAG3p.E442K
Missense
SNP
0.494
2--
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKD2-
-
-
-
1Loss-
PRKDC-
-
-
-
1Loss-
PRKN-
-
-
-
1Loss-
PRKRIP1-
-
-
-
3Gain-
PRL-
-
-
-
3Gain-
PRM1-
-
-
-
1Loss-
PRM2-
-
-
-
1Loss-
PRM3-
-
-
-
1Loss-
PRMT1-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PRODH2-
-
-
-
1Loss-
PROSER3-
-
-
-
1Loss-
PROX1p.D127N
Missense
SNP
0.382
2--
PROX2-
-
-
-
1Loss-
PROZ-
-
-
-
3Gain-
PRPF31-
-
-
-
1Loss-
PRPF39-
-
-
-
1Loss-
PRPF4B-
-
-
-
3Gain-
PRPF6p.P183S
Missense
SNP
0.483
2--
PRPS1L1-
-
-
-
3Gain-
PRR12-
-
-
-
1Loss-
PRR14-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR3-
-
-
-
3Gain-
PRR35-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
3Gain-
PRRG2-
-
-
-
1Loss-
PRRT1-
-
-
-
3Gain-
PRRT2-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS16-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS41-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRSS8-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRX-
-
-
-
1Loss-
PSCA-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSENEN-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8p.S119F
Missense
SNP
0.483
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSKH2-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA3-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMC4-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSMG4-
-
-
-
3Gain-
PSORS1C1-
-
-
-
3Gain-
PSORS1C2-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSPN-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTCD1-
-
-
-
3Gain-
PTDSS1-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGER3p.R392C
Missense
SNP
0.511
2--
PTGIR-
-
-
-
1Loss-
PTGR2-
-
-
-
1Loss-
PTH2-
-
-
-
1Loss-
PTK2-
-
-
-
1Loss-
PTK2B-
-
-
-
1Loss-
PTN-
-
-
-
3Gain-
PTOV1-
-
-
-
1Loss-
PTP4A3-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN21-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRH-
-
-
-
1Loss-
PTPRKp.E437K
p.G117R
Missense
Missense
SNP
SNP
1.000
1.000
1Loss-
PTPRN2-
-
-
-
3Gain-
PTPRQp.E2287K
Missense
SNP
0.500
2--
PTPRS-
-
-
-
1Loss-
PTPRZ1-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTX4-
-
-
-
1Loss-
PUF60-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PVR-
-
-
-
1Loss-
PVRIG-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PXDC1-
-
-
-
3Gain-
PXDNL-
-
-
-
1Loss-
PYCARD-
-
-
-
1Loss-
PYCR3-
-
-
-
1Loss-
PYDC1-
-
-
-
1Loss-
PYGL-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QPRT-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
R3HDMLp.D152N
Missense
SNP
0.448
2--
RAB11B-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP3-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB20-
-
-
-
3Gain-
RAB26-
-
-
-
1Loss-
RAB2A-
-
-
-
1Loss-
RAB2B-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB8A-
-
-
-
1Loss-
RABAC1-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RABGEF1-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAD21-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD54B-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPA1-
-
-
-
1Loss-
RALYL-
-
-
-
1Loss-
RAMACL-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA3-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL3-
-
-
-
1Loss-
RASGRP4-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP6-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM12B-
-
-
-
0Del-
RBM22-
-
-
-
1Loss-
RBM23p.R107C
Missense
SNP
0.338
1Loss-
RBM24-
-
-
-
3Gain-
RBM25-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM42-
-
-
-
1Loss-
RBM44p.E886K
Missense
SNP
0.435
2--
RBM48-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RCC1L-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH10-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH13-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECQL4-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
RELL1p.R87C
Missense
SNP
0.567
2--
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
REM2-
-
-
-
1Loss-
REPIN1-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO5-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFPL4A-
-
-
-
1Loss-
RFPL4AL1-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX6-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RGL2-
-
-
-
3Gain-
RGL3-
-
-
-
1Loss-
RGS11-
-
-
-
1Loss-
RGS17-
-
-
-
1Loss-
RGS20-
-
-
-
1Loss-
RGS22-
-
-
-
1Loss-
RGS6-
-
-
-
1Loss-
RGS9BP-
-
-
-
1Loss-
RHAGp.D29N
Missense
SNP
0.432
2--
RHBDD2-
-
-
-
3Gain-
RHBDF1-
-
-
-
1Loss-
RHBDL1-
-
-
-
1Loss-
RHEB-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOT2-
-
-
-
1Loss-
RHPN1-
-
-
-
1Loss-
RHPN2-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIDA-
-
-
-
1Loss-
RIMS1-
-
-
-
1Loss-
RIMS2-
-
-
-
1Loss-
RIN3-
-
-
-
1Loss-
RING1-
-
-
-
3Gain-
RINL-
-
-
-
1Loss-
RINT1-
-
-
-
3Gain-
RIOK1-
-
-
-
3Gain-
RIOX1-
-
-
-
1Loss-
RIPK1-
-
-
-
3Gain-
RIPK2-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIPPLY2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMDN1-
-
-
-
1Loss-
RMI2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDMBTPS2--RNA5-8SN2
RNA5-8SN2--MFN2
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF144B-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF151-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF182-
-
-
-
3Gain-
RNF19A-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF217-
-
-
-
1Loss-
RNF225-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF39-
-
-
-
3Gain-
RNF40-
-
-
-
1Loss-
RNF5-
-
-
-
3Gain-
RNGTT-
-
-
-
1Loss-
RNPS1-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROGDI-
-
-
-
1Loss-
RORAp.R27*
Nonsense
SNP
0.548
2--
ROS1-
-
-
-
1Loss-
RP1-
-
-
-
1Loss-
RP11-360D2.1p.S156F
Missense
SNP
0.434
NDND-
RP1L1-
-
-
-
1Loss-
RP5-862P8.2p.D602N
Missense
SNP
0.569
NDND-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPF2-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPL10A-
-
-
-
3Gain-
RPL10L-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL18-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL30-
-
-
-
1Loss-
RPL3L-
-
-
-
1Loss-
RPL7-
-
-
-
1Loss-
RPL8-
-
-
-
1Loss-
RPP21-
-
-
-
3Gain-
RPP40-
-
-
-
3Gain-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS15A-
-
-
-
1Loss-
RPS16-
-
-
-
1Loss-
RPS18-
-
-
-
3Gain-
RPS19-
-
-
-
1Loss-
RPS2-
-
-
-
1Loss-
RPS20-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPS9-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD1-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RRAS-
-
-
-
1Loss-
RREB1-
-
-
-
3Gain-
RRM2B-
-
-
-
1Loss-
RRN3-
-
-
-
1Loss-
RRS1-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSL1D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPH6A-
-
-
-
1Loss-
RSPO2-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RSPRY1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN2-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1p.E274K
Missense
SNP
0.350
1Loss-
RUVBL2-
-
-
-
1Loss-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXRB-
-
-
-
3Gain-
RYR1-
-
-
-
1Loss-
RYR3p.R2980Q
Missense
SNP
0.522
2--
S100A9p.R42Q
Missense
SNP
0.389
2--
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD12-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMD3-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD4B-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP130p.I1030M
Missense
SNP
0.475
2--
SAP25-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
3Gain-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARS2-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBK1-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SBSN-
-
-
-
1Loss-
SBSPON-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAF1-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCGB2B2-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCML4-
-
-
-
1Loss-
SCN1B-
-
-
-
1Loss-
SCN2Ap.E1111K
Missense
SNP
0.424
2--
SCN3B-
-
-
-
1Loss-
SCNN1B-
-
-
-
1Loss-
SCNN1G-
-
-
-
1Loss-
SCRIB-
-
-
-
1Loss-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
1Loss-
SCUBE3-
-
-
-
3Gain-
SCX-
-
-
-
1Loss-
SDC2-
-
-
-
1Loss-
SDCBP-
-
-
-
1Loss-
SDHAF1-
-
-
-
1Loss-
SDHAF3-
-
-
-
3Gain-
SDHAF4-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
1Loss-
SDR39U1-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDR42E2-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SEC63-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELENOW-
-
-
-
1Loss-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SENP6-
-
-
-
1Loss-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT12p.P284S
Missense
SNP
0.521
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB1-
-
-
-
3Gain-
SERPINB11p.Q130*
Nonsense
SNP
0.500
2--
SERPINB6-
-
-
-
3Gain-
SERPINB9-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SESN1-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SF3B5-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFT2D1-
-
-
-
1Loss-
SFTA2-
-
-
-
3Gain-
SFTA3-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
1Loss-
SGF29-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGK3-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2B1-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D3A-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1p.L555F
Missense
SNP
0.494
2--
SH3TC2-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHARPIN-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA7-
-
-
-
1Loss-
SHISA9-
-
-
-
1Loss-
SHKBP1-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIGLEC10-
-
-
-
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12-
-
-
-
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIPA1L3-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT5-
-
-
-
3Gain-
SIRT6-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKAP2-
-
-
-
3Gain-
SKIV2L-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SLA-
-
-
-
1Loss-
SLC10A1-
-
-
-
1Loss-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A9-
-
-
-
3Gain-
SLC13A1p.S524L
Missense
SNP
0.645
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC15A2p.S59F
Missense
SNP
0.586
2--
SLC16A10-
-
-
-
1Loss-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A5-
-
-
-
1Loss-
SLC17A7-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A5-
-
-
-
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A10p.E5K
p.R393*
Missense
Nonsense
SNP
SNP
0.481
0.565
2--
SLC22A16-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
3Gain-
SLC22A3-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A32-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC27A5-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC2A2p.L184F
Missense
SNP
0.444
2--
SLC30A8-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B3-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C1p.P349L
Missense
SNP
0.487
2--
SLC35D3-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35F1-
-
-
-
1Loss-
SLC35F4-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A6-
-
-
-
1Loss-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4-
-
-
-
1Loss-
SLC39A7-
-
-
-
3Gain-
SLC39A9-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC44A4-
-
-
-
3Gain-
SLC45A4-
-
-
-
1Loss-
SLC4A2-
-
-
-
3Gain-
SLC4A9-
-
-
-
1Loss-
SLC52A2-
-
-
-
1Loss-
SLC5A11-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC6A16-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A13-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC7A9-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC9A3R2-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLCO5A1-
-
-
-
1Loss-
SLIRP-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLURP1-
-
-
-
1Loss-
SLURP2-
-
-
-
1Loss-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
3Gain-
SMAD5-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCA2p.P127L
Missense
SNP
1.000
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMG1-
-
-
-
1Loss-
SMG9-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM13-
-
-
-
3Gain-
SMIM17-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM29-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMLR1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SNAI2-
-
-
-
1Loss-
SNAI3-
-
-
-
1Loss-
SNAP91p.S115F
Missense
SNP
1.000
1Loss-
SNAPC1-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNN-
-
-
-
1Loss-
SNRNP25-
-
-
-
1Loss-
SNRNP48-
-
-
-
3Gain-
SNRNP70-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPC-
-
-
-
3Gain-
SNRPD2-
-
-
-
1Loss-
SNTB1-
-
-
-
1Loss-
SNTB2-
-
-
-
1Loss-
SNTG1-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX14-
-
-
-
1Loss-
SNX16-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX29-
-
-
-
1Loss-
SNX3-
-
-
-
1Loss-
SNX31-
-
-
-
1Loss-
SNX6-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SNX9-
-
-
-
1Loss-
SOBP-
-
-
-
1Loss-
SOCS1-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX17-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
3Gain-
SOX7-
-
-
-
1Loss-
SOX8-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAG1-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAM1p.G207E
Missense
SNP
0.727
3Gain-
SPARC-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATC1-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPDEF-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPDYE1-
-
-
-
3Gain-
SPDYE2-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPDYE6-
-
-
-
3Gain-
SPG7-
-
-
-
1Loss-
SPHK2-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPIDR-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT2-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRED3-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPSB3-
-
-
-
1Loss-
SPTA1p.E1731K
Missense
SNP
0.554
2--
SPTB-
-
-
-
1Loss-
SPTBN4-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SQLE-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRCAP-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRL-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRRM2-
-
-
-
1Loss-
SRRM3-
-
-
-
3Gain-
SRRM5-
-
-
-
1Loss-
SRRT-
-
-
-
3Gain-
SRSF12-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SSBP1-
-
-
-
3Gain-
SSBP4-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSC5D-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSPOp.E5061K
Missense
SNP
0.711
3Gain-
SSR1-
-
-
-
3Gain-
SSTR1-
-
-
-
1Loss-
SSTR5-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST18p.D508N
Missense
SNP
0.599
1Loss-
ST3GAL1-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST6GAL2p.G210E
p.R11Q
Missense
Missense
SNP
SNP
0.459
0.436
2--
ST7-
-
-
-
3Gain-
ST8SIA5p.R270C
Missense
SNP
0.412
2--
STAG3-
-
-
-
3Gain-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STAU2-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
3Gain-
STK3-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STMN2-
-
-
-
1Loss-
STMN4-
-
-
-
1Loss-
STMND1-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STON2-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRN3-
-
-
-
1Loss-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STUB1-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULF1-
-
-
-
1Loss-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT16H-
-
-
-
1Loss-
SUPT5H-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWSAP1-
-
-
-
1Loss-
SYBU-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCN-
-
-
-
1Loss-
SYCP2L-
-
-
-
3Gain-
SYDE1-
-
-
-
1Loss-
SYMPK-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNE1-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNE4-
-
-
-
1Loss-
SYNGAP1-
-
-
-
3Gain-
SYNGR3-
-
-
-
1Loss-
SYNGR4-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYT16-
-
-
-
1Loss-
SYT17-
-
-
-
1Loss-
SYT3-
-
-
-
1Loss-
SYT4p.L57F
Missense
SNP
0.495
2--
SYT5-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TAC1-
-
-
-
3Gain-
TACC1-
-
-
-
1Loss-
TAF11-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1Lp.R1461Q
Missense
SNP
0.472
2--
TAF2-
-
-
-
1Loss-
TAF6-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TANC1p.P462S
Missense
SNP
0.455
2--
TANGO6-
-
-
-
1Loss-
TAOK2-
-
-
-
1Loss-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TARM1-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38p.M227I
Missense
SNP
0.260
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN1-
-
-
-
1Loss-
TAX1BP1-
-
-
-
3Gain-
TBC1D10B-
-
-
-
1Loss-
TBC1D17-
-
-
-
1Loss-
TBC1D24-
-
-
-
1Loss-
TBC1D31-
-
-
-
1Loss-
TBC1D32-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBCB-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBL2-
-
-
-
3Gain-
TBL3-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX18-
-
-
-
1Loss-
TBX19p.S327F
Missense
SNP
0.452
2--
TBX20-
-
-
-
3Gain-
TBX6-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TBXT-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCF19-
-
-
-
3Gain-
TCF21-
-
-
-
1Loss-
TCF24-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
3Gain-
TCTE3-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDP2-
-
-
-
3Gain-
TDRD12-
-
-
-
1Loss-
TDRD9-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TEAD2-
-
-
-
1Loss-
TEAD3-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TECPR2-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDC2-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TEKT5-
-
-
-
1Loss-
TELO2-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TEX101-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TFAP2A-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFB1M-
-
-
-
1Loss-
TFDP1-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFPT-
-
-
-
1Loss-
TFR2-
-
-
-
3Gain-
TFRCp.P543L
Missense
SNP
0.604
2--
TG-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFB1I1-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGS1-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP8-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEM6-
-
-
-
1Loss-
THEMIS-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC6-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THPOp.E252K
Missense
SNP
0.385
2--
THRBp.R158Q
Missense
SNP
0.567
2--
THSD7Ap.S370N
Missense
SNP
0.205
3Gain-
THTPA-
-
-
-
1Loss-
THUMPD1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD5-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIRAP-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLR5p.L260F
Missense
SNP
0.500
2--
TLX3-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TMC4-
-
-
-
1Loss-
TMC5-
-
-
-
1Loss-
TMC7-
-
-
-
1Loss-
TMCO3-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM114-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM121-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM136-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM143-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM147-
-
-
-
1Loss-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM150B-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM170B-
-
-
-
3Gain-
TMEM173-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM186-
-
-
-
1Loss-
TMEM190-
-
-
-
1Loss-
TMEM196p.S121F
Missense
SNP
0.268
3Gain-
TMEM200Ap.P330S
Missense
SNP
1.000
1Loss-
TMEM204-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM218-
-
-
-
1Loss-
TMEM219-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM229B-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM238-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM244-
-
-
-
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
1Loss-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM259-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM270-
-
-
-
3Gain-
TMEM30A-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
1Loss-
TMEM65-
-
-
-
1Loss-
TMEM67-
-
-
-
0Del-
TMEM68-
-
-
-
1Loss-
TMEM70-
-
-
-
1Loss-
TMEM71-
-
-
-
1Loss-
TMEM74-
-
-
-
1Loss-
TMEM86B-
-
-
-
1Loss-
TMEM8A-
-
-
-
1Loss-
TMEM91-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMUB1-
-
-
-
3Gain-
TMX1-
-
-
-
1Loss-
TNF-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF17-
-
-
-
1Loss-
TNFSF13B-
-
-
-
3Gain-
TNFSF14-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNT1-
-
-
-
1Loss-
TNP2-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6A-
-
-
-
1Loss-
TNS3-
-
-
-
3Gain-
TNXB-
-
-
-
3Gain-
TOGARAM1-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM40-
-
-
-
1Loss-
TOMM7-
-
-
-
3Gain-
TONSL-
-
-
-
1Loss-
TOP1MT-
-
-
-
1Loss-
TOX-
-
-
-
1Loss-
TOX3-
-
-
-
1Loss-
TOX4-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53INP1-
-
-
-
1Loss-
TPBG-
-
-
-
1Loss-
TPD52-
-
-
-
1Loss-
TPD52L1-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM4-
-
-
-
1Loss-
TPMT-
-
-
-
3Gain-
TPP2-
-
-
-
3Gain-
TPPP2-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPRX1-
-
-
-
1Loss-
TPSAB1-
-
-
-
1Loss-
TPSB2-
-
-
-
1Loss-
TPSD1-
-
-
-
1Loss-
TPSG1-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRADD-
-
-
-
1Loss-
TRAF1p.S264F
Missense
SNP
0.486
2--
TRAF3-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAF7-
-
-
-
1Loss-
TRAM1-
-
-
-
1Loss-
TRANK1p.G2338E
Missense
SNP
0.628
2--
TRAP1-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC9-
-
-
-
1Loss-
TRAT1p.S157F
Missense
SNP
0.539
2--
TRDN-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TRHR-
-
-
-
1Loss-
TRIB1-
-
-
-
1Loss-
TRIL-
-
-
-
3Gain-
TRIM10-
-
-
-
3Gain-
TRIM15-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM31-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
3Gain-
TRIM39-RPP21-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM55-
-
-
-
1Loss-
TRIM56-
-
-
-
3Gain-
TRIM72-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM9-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
1Loss-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT11-
-
-
-
1Loss-
TRMT12-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRPA1-
-
-
-
1Loss-
TRPC4p.W415*
Nonsense
SNP
0.448
2--
TRPC7-
-
-
-
1Loss-
TRPM3p.E423K
Missense
SNP
0.503
2--
TRPM4-
-
-
-
1Loss-
TRPS1-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC2-
-
-
-
1Loss-
TSC22D4-
-
-
-
3Gain-
TSEN34-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ3-
-
-
-
1Loss-
TSKS-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN16-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSPYL5-
-
-
-
1Loss-
TSR3-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTA3-
-
-
-
1Loss-
TSTD3-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC26-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTC9B-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTNp.P12159S
p.P7985S
p.S6341L
p.T5090A
p.M4471I
p.R220Q
p.S153L
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.453
0.443
0.491
0.473
0.514
0.478
0.391
2--
TTPA-
-
-
-
1Loss-
TTYH1-
-
-
-
1Loss-
TTYH3-
-
-
-
3Gain-
TUBA3E-
-
-
-
1Loss-
TUBB-
-
-
-
3Gain-
TUBB2A-
-
-
-
3Gain-
TUBB2B-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBE1-
-
-
-
1Loss-
TUBGCP3-
-
-
-
3Gain-
TUFM-
-
-
-
1Loss-
TULP1-
-
-
-
3Gain-
TULP2-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TVP23A-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXLNB-
-
-
-
1Loss-
TXNDC11-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC5-
-
-
-
3Gain-
TXNL4B-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYROBP-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
U2AF1L4-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2AF2-
-
-
-
1Loss-
UBA2-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBASH3B-
-
-
-
1Loss-
UBD-
-
-
-
3Gain-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2I-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2S-
-
-
-
1Loss-
UBE2V2-
-
-
-
1Loss-
UBE2W-
-
-
-
1Loss-
UBE3C-
-
-
-
3Gain-
UBE3D-
-
-
-
1Loss-
UBFD1-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBR5-
-
-
-
1Loss-
UBR7-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBXN2B-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UFL1-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UGT1A10p.P164L
Missense
SNP
0.533
2--
UHRF1-
-
-
-
1Loss-
UHRF1BP1-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMOD-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC13Cp.R182Q
Missense
SNP
0.523
2--
UNC45Bp.R481C
Missense
SNP
0.578
2--
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNKL-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF3A-
-
-
-
3Gain-
UPK1A-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC2-
-
-
-
3Gain-
UQCR11-
-
-
-
1Loss-
UQCRB-
-
-
-
1Loss-
UQCRC2-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URI1-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USF2-
-
-
-
1Loss-
USH2Ap.G4804R
Missense
SNP
0.433
2--
USHBP1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP31-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP45-
-
-
-
1Loss-
USP6p.R943C
Missense
SNP
0.577
2--
USP7-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP23-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTRN-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VARS-
-
-
-
3Gain-
VARS2-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VASN-
-
-
-
1Loss-
VASP-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAV1-
-
-
-
1Loss-
VCPIP1-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VGLL2-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
1Loss-
VKORC1-
-
-
-
1Loss-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPS13B-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS28-
-
-
-
1Loss-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS52-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM1-
-
-
-
1Loss-
VSTM2A-
-
-
-
3Gain-
VSTM2B-
-
-
-
1Loss-
VSX2-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA3A-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA7-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VXN-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASHC5-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBSCR17p.R400C
Missense
SNP
0.232
NDND-
WDHD1-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR24-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR27-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR46-
-
-
-
3Gain-
WDR55-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR62-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR86-
-
-
-
3Gain-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WDR90-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WDR97-
-
-
-
1Loss-
WDYHV1-
-
-
-
1Loss-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
1Loss-
WISP3-
-
-
-
1Loss-
WIZ-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT8A-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WRNIP1-
-
-
-
3Gain-
WTAP-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP1-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XKR4-
-
-
-
1Loss-
XKR5-
-
-
-
1Loss-
XKR6p.P573S
Missense
SNP
0.669
1Loss-
XKR9-
-
-
-
1Loss-
XPO6-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XRCC1-
-
-
-
1Loss-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XYLT1-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YIF1B-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YLPM1-
-
-
-
1Loss-
YPEL3-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF3-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z84488.2-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
1Loss-
ZBTB12-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB22-
-
-
-
3Gain-
ZBTB24-
-
-
-
1Loss-
ZBTB25-
-
-
-
1Loss-
ZBTB32-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB9-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
1Loss-
ZC2HC1B-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
1Loss-
ZC3H4-
-
-
-
1Loss-
ZC3H7A-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZDHHC1-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC7-
-
-
-
1Loss-
ZFAND1-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAT-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFHX4p.S2419F
Missense
SNP
0.301
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP14-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP36-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP41-
-
-
-
1Loss-
ZFP57-
-
-
-
3Gain-
ZFP69Bp.R96W
Missense
SNP
0.107
2--
ZFP82-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2p.S926F
Missense
SNP
0.668
1Loss-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZG16-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZHX1-
-
-
-
1Loss-
ZHX1-C8orf76-
-
-
-
1Loss-
ZHX2-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN8-
-
-
-
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF112-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF121-
-
-
-
1Loss-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF138-
-
-
-
3Gain-
ZNF14-
-
-
-
1Loss-
ZNF146-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF16-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF165-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF174-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF184-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF200-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF213-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF250-
-
-
-
1Loss-
ZNF251-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF260-
-
-
-
1Loss-
ZNF263-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
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-
1Loss-
ZNF267-
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-
1Loss-
ZNF273-
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-
3Gain-
ZNF274-
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-
1Loss-
ZNF276-
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-
1Loss-
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-
3Gain-
ZNF28-
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-
1Loss-
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3Gain-
ZNF283-
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-
1Loss-
ZNF284-
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1Loss-
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-
1Loss-
ZNF292-
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-
1Loss-
ZNF296-
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-
1Loss-
ZNF3-
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-
3Gain-
ZNF30-
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-
1Loss-
ZNF300-
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-
1Loss-
ZNF302-
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-
1Loss-
ZNF304-
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-
1Loss-
ZNF311-
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3Gain-
ZNF316-
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-
3Gain-
ZNF317-
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-
1Loss-
ZNF319-
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-
1Loss-
ZNF320-
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-
1Loss-
ZNF322-
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3Gain-
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-
1Loss-
ZNF324B-
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-
1Loss-
ZNF329-
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-
1Loss-
ZNF331-
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-
1Loss-
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-
1Loss-
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-
1Loss-
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-
1Loss-
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1Loss-
ZNF350-
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-
1Loss-
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-
1Loss-
ZNF382-
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-
1Loss-
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1Loss-
ZNF391-
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3Gain-
ZNF394-
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3Gain-
ZNF395-
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1Loss-
ZNF398-
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3Gain-
ZNF404-
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-
1Loss-
ZNF410-
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1Loss-
ZNF414-
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1Loss-
ZNF415-
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1Loss-
ZNF416-
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1Loss-
ZNF417-
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1Loss-
ZNF418-
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1Loss-
ZNF419-
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1Loss-
ZNF420-
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1Loss-
ZNF423-
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1Loss-
ZNF425-
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3Gain-
ZNF426-
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1Loss-
ZNF428-
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1Loss-
ZNF429-
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1Loss-
ZNF43-
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1Loss-
ZNF430-
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1Loss-
ZNF431-
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1Loss-
ZNF432-
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1Loss-
ZNF433-
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1Loss-
ZNF439-
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1Loss-
ZNF44-
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1Loss-
ZNF440-
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1Loss-
ZNF441-
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1Loss-
ZNF442-
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1Loss-
ZNF443-
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1Loss-
ZNF444-
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1Loss-
ZNF446-
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1Loss-
ZNF45-
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1Loss-
ZNF460-
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1Loss-
ZNF461-
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1Loss-
ZNF467-
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3Gain-
ZNF468-
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1Loss-
ZNF469-
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1Loss-
ZNF470-
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1Loss-
ZNF471-
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1Loss-
ZNF473-
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1Loss-
ZNF474-
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1Loss-
ZNF479-
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3Gain-
ZNF48-
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1Loss-
ZNF480-
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1Loss-
ZNF486-
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1Loss-
ZNF490-
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1Loss-
ZNF491-
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1Loss-
ZNF492-
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1Loss-
ZNF493-
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1Loss-
ZNF497-
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1Loss-
ZNF500-
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1Loss-
ZNF506-
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1Loss-
ZNF507-
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1Loss-
ZNF517-
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1Loss-
ZNF524-
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1Loss-
ZNF525-
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1Loss-
ZNF526-
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1Loss-
ZNF527-
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1Loss-
ZNF528-
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1Loss-
ZNF529-
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1Loss-
ZNF530-
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-
1Loss-
ZNF534-
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-
1Loss-
ZNF536p.D1179N
Missense
SNP
0.533
1Loss-
ZNF540-
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-
1Loss-
ZNF541-
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-
1Loss-
ZNF543-
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1Loss-
ZNF544-
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1Loss-
ZNF546-
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1Loss-
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1Loss-
ZNF548-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
ZNF552-
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1Loss-
ZNF554-
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1Loss-
ZNF555-
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1Loss-
ZNF556-
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1Loss-
ZNF557-
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1Loss-
ZNF558-
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1Loss-
ZNF559-
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1Loss-
ZNF559-ZNF177-
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1Loss-
ZNF560-
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1Loss-
ZNF561-
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1Loss-
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1Loss-
ZNF563-
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1Loss-
ZNF564-
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1Loss-
ZNF565-
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1Loss-
ZNF566-
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1Loss-
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1Loss-
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1Loss-
ZNF569-
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1Loss-
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1Loss-
ZNF570-
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1Loss-
ZNF571-
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1Loss-
ZNF572-
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1Loss-
ZNF573-
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1Loss-
ZNF574-
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1Loss-
ZNF575-
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1Loss-
ZNF576-
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1Loss-
ZNF577-
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1Loss-
ZNF578-
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1Loss-
ZNF579-
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1Loss-
ZNF580-
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1Loss-
ZNF581-
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1Loss-
ZNF582-
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1Loss-
ZNF583-
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1Loss-
ZNF584-
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1Loss-
ZNF585A-
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1Loss-
ZNF585B-
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1Loss-
ZNF586-
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1Loss-
ZNF587-
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1Loss-
ZNF587B-
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1Loss-
ZNF596-
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1Loss-
ZNF597-
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1Loss-
ZNF598-
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1Loss-
ZNF599-
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1Loss-
ZNF600-
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1Loss-
ZNF606-
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1Loss-
ZNF607-
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1Loss-
ZNF608-
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1Loss-
ZNF610-
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1Loss-
ZNF611-
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1Loss-
ZNF613-
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1Loss-
ZNF614-
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1Loss-
ZNF615-
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1Loss-
ZNF616-
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1Loss-
ZNF623-
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1Loss-
ZNF625-
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1Loss-
ZNF625-ZNF20-
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1Loss-
ZNF626-
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-
1Loss-
ZNF627-
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1Loss-
ZNF628-
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1Loss-
ZNF629-
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1Loss-
ZNF646-
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1Loss-
ZNF649-
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1Loss-
ZNF653-
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-
1Loss-
ZNF655-
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3Gain-
ZNF66-
-
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-
1Loss-
ZNF665-
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-
1Loss-
ZNF667-
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-
1Loss-
ZNF671-
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1Loss-
ZNF675-
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1Loss-
ZNF676-
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1Loss-
ZNF677-
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1Loss-
ZNF679-
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3Gain-
ZNF680-
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-
3Gain-
ZNF681-
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1Loss-
ZNF682-
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-
1Loss-
ZNF688-
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1Loss-
ZNF689-
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1Loss-
ZNF69-
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-
1Loss-
ZNF696-
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1Loss-
ZNF699-
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-
1Loss-
ZNF7-
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-
1Loss-
ZNF700-
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-
1Loss-
ZNF701-
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1Loss-
ZNF703-
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-
1Loss-
ZNF704-
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-
1Loss-
ZNF706-
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1Loss-
ZNF707-
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1Loss-
ZNF708-
-
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-
1Loss-
ZNF709-
-
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-
1Loss-
ZNF71-
-
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-
1Loss-
ZNF713-
-
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-
3Gain-
ZNF714-
-
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-
1Loss-
ZNF716-
-
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-
3Gain-
ZNF720-
-
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-
1Loss-
ZNF723-
-
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-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
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-
1Loss-
ZNF727-
-
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-
3Gain-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
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-
1Loss-
ZNF730-
-
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-
1Loss-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF737-
-
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-
1Loss-
ZNF738-
-
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-
1Loss-
ZNF746-
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-
3Gain-
ZNF747-
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-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF75A-
-
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-
1Loss-
ZNF76-
-
-
-
3Gain-
ZNF761-
-
-
-
1Loss-
ZNF763-
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-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF780A-
-
-
-
1Loss-
ZNF780B-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF784-
-
-
-
1Loss-
ZNF785-
-
-
-
1Loss-
ZNF786-
-
-
-
3Gain-
ZNF787-
-
-
-
1Loss-
ZNF789-
-
-
-
3Gain-
ZNF790-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF804Bp.D590N
Missense
SNP
0.274
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF823-
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-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF835-
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-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF839-
-
-
-
1Loss-
ZNF841-
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-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF846-
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-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF850-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF865-
-
-
-
1Loss-
ZNF878-
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-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF888-
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-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF92-
-
-
-
3Gain-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNHIT1-
-
-
-
3Gain-
ZNRD1-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF4-
-
-
-
1Loss-
ZP2-
-
-
-
1Loss-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN10-
-
-
-
1Loss-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN18-
-
-
-
1Loss-
ZSCAN21-
-
-
-
3Gain-
ZSCAN22-
-
-
-
1Loss-
ZSCAN23-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN31-
-
-
-
3Gain-
ZSCAN32-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSCAN9-
-
-
-
3Gain-
ZSWIM4-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZUP1-
-
-
-
1Loss-
ZYX-
-
-
-
3Gain-