PDMR-283228~195-R~A04VW5UV9-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A2Mp.D1441N
Missense
SNP
0.209
2--
A3GALT2-
-
-
-
3Gain-
AADACp.N298T
Missense
SNP
0.166
2--
AADACL3p.G123S
Missense
SNP
0.493
3Gain-
AADACL4-
-
-
-
3Gain-
AAGAB-
-
-
-
3Gain-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AARS-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABCA1p.P1546S
Missense
SNP
0.206
2--
ABCA10p.P864L
Missense
SNP
0.619
2--
ABCA12p.E2209K
p.R1960Q
p.Q223*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.393
0.183
0.184
2--
ABCA13p.A4131V
Missense
SNP
0.256
3Gain-
ABCA3p.P72L
Missense
SNP
0.177
2--
ABCB1p.G763R
Missense
SNP
0.282
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC4p.G1053D
Missense
SNP
0.138
2--
ABCC8p.S348F
Missense
SNP
0.226
2--
ABCF1-
-
-
-
1Loss-
ABCF2-
-
-
-
3Gain-
ABCG2-
-
-
-
1Loss-
ABCG4p.S69F
Missense
SNP
0.267
2--
ABHD11-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABI1-
-
-
-
1Loss-
ABL1p.P872L
Missense
SNP
0.642
2--
ABL2-
-
-
-
3Gain-
ABLIM3p.P11S
Missense
SNP
0.209
2--
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
ABRAXAS1-
-
-
-
1Loss-
ABT1-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
0Del-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC013489.1-
-
-
-
3Gain-
AC018554.3-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC040162.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068831.7-
-
-
-
3Gain-
AC069368.1-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC087632.1-
-
-
-
3Gain-
AC090517.4-
-
-
-
3Gain-
AC091057.6-
-
-
-
3Gain-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC093827.5-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104151.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
3Gain-
AC114490.2-
-
-
-
3Gain-
AC114490.3-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
3Gain-
AC126283.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC245033.1-
-
-
-
3Gain-
ACAD9p.S474F
Missense
SNP
0.324
2--
ACADVL-
-
-
-
1Loss-
ACANp.P228S
Missense
SNP
0.151
3Gain-
ACAP1-
-
-
-
1Loss-
ACAP3-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD5-
-
-
-
1Loss-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACO1-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACOT7-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACRV1p.G166D
Missense
SNP
0.223
2--
ACSBG1-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSM1p.V489M
Missense
DNP
0.363
2--
ACSM2Ap.S202F
p.P403L
Missense
Missense
SNP
SNP
0.386
0.192
2--
ACSM5p.V503I
Missense
SNP
0.277
2--
ACSS2-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
3Gain-
ACTL10-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTL8-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5-
-
-
-
3Gain-
ACTRT2-
-
-
-
3Gain-
ADA-
-
-
-
3Gain-
ADAD1-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM10-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM2p.S440L
Missense
SNP
0.221
2--
ADAM20p.Q3*
Nonsense
SNP
0.189
2--
ADAM22-
-
-
-
3Gain-
ADAM28p.E114K
Missense
SNP
0.271
2--
ADAM8-
-
-
-
1Loss-
ADAMTS17-
-
-
-
3Gain-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19p.G560E
Missense
SNP
0.179
2--
ADAMTS20p.E23K
Missense
SNP
0.393
2--
ADAMTS4-
-
-
-
3Gain-
ADAMTS5p.E357K
Missense
SNP
0.522
2--
ADAMTS7-
-
-
-
3Gain-
ADAMTS9p.S1825F
p.L1609V
Missense
Missense
SNP
SNP
0.397
0.365
2--
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADCY8-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADD1p.P413S
Missense
SNP
0.196
2--
ADGRA1-
-
-
-
1Loss-
ADGRB1p.G297S
Missense
SNP
0.276
3Gain-
ADGRE1p.S218L
Missense
SNP
0.209
2--
ADGRE3p.G229R
Missense
SNP
0.371
2--
ADGRE5p.G436S
Missense
SNP
0.197
2--
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRL2p.E1081K
p.H1168Y
Missense
Missense
SNP
SNP
0.171
0.328
2--
ADGRL4p.V666A
Missense
SNP
0.548
2--
ADGRV1p.G8E
p.E230K
p.S3561L
Missense
Missense
Missense
SNP
SNP
SNP
0.262
0.225
0.278
2--
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPGK-
-
-
-
3Gain-
ADPRHL2-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AEN-
-
-
-
3Gain-
AESp.P219L
Missense
SNP
0.193
2--
AFF1-
-
-
-
1Loss-
AFMIDp.D82N
Missense
SNP
0.303
2--
AGAP3-
-
-
-
3Gain-
AGBL1p.P434S
Missense
SNP
0.425
3Gain-
AGBL2p.R319C
Missense
SNP
0.242
2--
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMAT-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO1-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AGO3-
-
-
-
3Gain-
AGO4-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGTRAPp.R57*
Nonsense
SNP
0.461
3Gain-
AHCTF1-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHDC1-
-
-
-
3Gain-
AHNAKp.V4219I
Missense
SNP
0.217
2--
AHNAK2p.P907L
Missense
SNP
0.175
2--
AHR-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIFM2p.P101L
Missense
SNP
0.222
2--
AIM1p.P746S
Missense
SNP
0.227
NDND-
AIM2-
-
-
-
3Gain-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AJAP1-
-
-
-
3Gain-
AK2-
-
-
-
3Gain-
AK3-
-
-
-
1Loss-
AK5p.P85L
Missense
SNP
0.545
2--
AKAP10-
-
-
-
1Loss-
AKAP11p.L1170F
Missense
SNP
0.492
2--
AKAP13-
-
-
-
3Gain-
AKAP6p.S701F
p.S1508L
Missense
Missense
SNP
SNP
0.244
0.329
2--
AKAP9p.E679K
Missense
SNP
0.241
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
1Loss-
AKR7A2-
-
-
-
3Gain-
AKR7A3-
-
-
-
3Gain-
AKR7L-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL020996.2-
-
-
-
3Gain-
AL021997.3-
-
-
-
1Loss-
AL031281.2-
-
-
-
3Gain-
AL031777.3-
-
-
-
1Loss-
AL031847.2-
-
-
-
3Gain-
AL033529.1-
-
-
-
3Gain-
AL080251.1-
-
-
-
3Gain-
AL109811.4-
-
-
-
3Gain-
AL109827.1-
-
-
-
3Gain-
AL117339.5-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
3Gain-
ALDH5A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG12-
-
-
-
3Gain-
ALG14p.R27C
Missense
SNP
0.125
2--
ALKBH4-
-
-
-
3Gain-
ALKBH5-
-
-
-
1Loss-
ALMS1p.Y2095F
Missense
SNP
0.174
2--
ALOX12p.W208*
Nonsense
SNP
0.461
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK3-
-
-
-
3Gain-
ALPL-
-
-
-
3Gain-
ALS2CR11p.P814S
Missense
SNP
0.356
NDND-
ALX3p.P42S
Missense
SNP
0.236
2--
AMFR-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC2p.D360N
Missense
SNP
0.228
2--
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL7-
-
-
-
3Gain-
ANHXp.W98*
Nonsense
SNP
0.435
2--
ANK2-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKDD1Ap.L95F
Missense
SNP
0.472
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKHp.R384K
Missense
SNP
0.255
2--
ANKIB1-
-
-
-
4Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD34C-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD55-
-
-
-
3Gain-
ANKRD60-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD65-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO10p.P452S
Missense
SNP
0.340
2--
ANO6p.S42F
Missense
SNP
0.225
2--
ANP32A-
-
-
-
3Gain-
ANPEP-
-
-
-
3Gain-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AOX1p.E451K
Missense
SNP
0.193
2--
AP1AR-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP3B2p.D784N
p.X258_splice
Missense
Splice_Site
SNP
SNP
0.165
0.162
3Gain-
AP3S2-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APBB1IP-
-
-
-
1Loss-
APC2p.E1014K
Missense
SNP
0.199
2--
APCDD1L-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOA5p.R143H
Missense
SNP
0.505
2--
APOBp.S3592P
p.K2930N
p.D2730N
Missense
Missense
Missense
SNP
SNP
SNP
0.197
0.191
0.211
2--
APOBEC4-
-
-
-
3Gain-
APOBRp.G635E
Missense
SNP
0.357
2--
APPp.R747C
Missense
SNP
0.235
2--
APRT-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
AQP9-
-
-
-
3Gain-
ARC-
-
-
-
3Gain-
ARF1-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP1-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFIP1-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
3Gain-
ARHGAP12-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26p.S353L
Missense
SNP
0.280
2--
ARHGAP29p.N405Y
Missense
SNP
0.597
2--
ARHGAP30-
-
-
-
3Gain-
ARHGAP31p.P608S
Missense
SNP
0.300
2--
ARHGAP39-
-
-
-
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
3Gain-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15p.P78L
Missense
SNP
0.340
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF19-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF38-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID1Ap.S1091C
p.Q1200*
Missense
Nonsense
SNP
SNP
0.342
0.529
3Gain-
ARID3B-
-
-
-
3Gain-
ARID3C-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARIH1-
-
-
-
3Gain-
ARL15-
-
-
-
3Gain-
ARL2BP-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMCX4p.P1390L
Missense
SNP
0.324
NDND-
ARMH2-
-
-
-
1Loss-
ARNT2-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARPP21p.S76F
p.K127*
Missense
Nonsense
SNP
SNP
0.196
0.338
2--
ARRB2-
-
-
-
1Loss-
ARRDC4p.Q234L
Missense
SNP
0.496
3Gain-
ARSBp.P523S
Missense
SNP
0.328
2--
ARSFp.A184V
Missense
SNP
0.619
NDND-
ARSJ-
-
-
-
1Loss-
ART1p.G237E
Missense
SNP
0.487
2--
ART3-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASAP3p.P811S
p.P127L
Missense
Missense
SNP
SNP
0.301
0.153
3Gain-
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASCC3p.H1336Y
Missense
SNP
0.232
2--
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNA1p.S231T
Missense
SNP
0.341
2--
ASNS-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPDHp.G279E
Missense
SNP
0.164
2--
ASPH-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASTN1p.E502K
Missense
SNP
0.331
3Gain-
ASXL1-
-
-
-
3Gain-
ASXL2p.P963S
Missense
SNP
0.377
2--
ASZ1-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATAT1-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6Bp.P263S
Missense
SNP
0.220
2--
ATF7IPp.S752T
Missense
SNP
0.520
2--
ATG101p.R141W
Missense
SNP
0.109
2--
ATG9B-
-
-
-
3Gain-
ATMIN-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATP10A-
-
-
-
3Gain-
ATP13A2-
-
-
-
3Gain-
ATP13A5p.D397N
Missense
SNP
0.396
2--
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B2p.R777Q
Missense
SNP
0.438
2--
ATP2B4p.P113S
Missense
SNP
0.296
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP4Ap.E902K
Missense
SNP
0.125
2--
ATP5F1C-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1E2p.E61K
Missense
SNP
0.427
2--
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP8B4p.E587K
Missense
SNP
0.741
2--
ATP9A-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATRNp.Q1218*
Nonsense
DNP
0.354
2--
ATXN10-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
ATXN7p.P656L
Missense
DNP
0.366
2--
ATXN7L1-
-
-
-
3Gain-
AUNIP-
-
-
-
3Gain-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXIN2p.P710S
Missense
SNP
0.184
2--
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
AZIN2-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT1p.R199Q
Missense
SNP
0.208
2--
B3GALT2-
-
-
-
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GNT2p.E64K
Missense
SNP
0.378
2--
B3GNT9-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GALT6p.P104S
Missense
SNP
0.160
2--
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BAG1-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1p.Q253*
Nonsense
SNP
0.223
2--
BASP1-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBS12-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS4-
-
-
-
3Gain-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCL2A1-
-
-
-
3Gain-
BCL2L1-
-
-
-
3Gain-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BDH2-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BET1-
-
-
-
4Gain-
BFARp.T316I
Missense
SNP
0.354
2--
BGLAP-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHMG1p.G215E
Missense
SNP
0.196
2--
BICC1-
-
-
-
1Loss-
BIRC7-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLM-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMI1-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3p.S83L
Missense
SNP
0.631
1Loss-
BMP7-
-
-
-
3Gain-
BMPERp.W417*
Nonsense
SNP
0.397
3Gain-
BMPR1B-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
3Gain-
BNC1p.P603L
p.D462N
Missense
Missense
SNP
SNP
0.473
0.215
3Gain-
BNC2-
-
-
-
1Loss-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BOLA2B-
-
-
-
2-BOLA2B--SMG1P1
BOP1p.G712R
Missense
SNP
0.113
3Gain-
BORCS6-
-
-
-
1Loss-
BORCS8-MEF2Bp.S355F
Missense
SNP
0.317
2--
BPGM-
-
-
-
3Gain-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFCp.T377I
Missense
SNP
0.333
2--
BPNT1-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD1-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRICD5p.R135Q
Missense
DNP
0.347
2--
BRINP2p.P611S
Missense
SNP
0.688
3Gain-
BRINP3-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRWD3p.S1284L
Missense
SNP
0.306
NDND-
BSDC1-
-
-
-
3Gain-
BTBD1p.H174Y
Missense
SNP
0.299
3Gain-
BTG2-
-
-
-
3Gain-
BTN1A1-
-
-
-
1Loss-
BTN2A1-
-
-
-
1Loss-
BTN2A2-
-
-
-
1Loss-
BTN3A1-
-
-
-
1Loss-
BTN3A2-
-
-
-
1Loss-
BTN3A3-
-
-
-
1Loss-
BTNL3p.G245S
Missense
SNP
0.524
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUB1Bp.P301S
Missense
SNP
0.831
2--
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2p.R62C
Missense
SNP
0.553
3Gain-
C10orf113-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C11orf63p.P395S
Missense
SNP
0.413
NDND-
C11orf91p.P105L
Missense
SNP
0.151
2--
C12orf40p.E606K
Missense
SNP
0.241
2--
C14orf159p.P601S
Missense
SNP
0.187
NDND-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf59p.P256L
Missense
SNP
0.198
NDND-
C15orf61-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71p.P287L
Missense
SNP
0.436
2--
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C19orf25p.P52L
Missense
SNP
0.357
2--
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf127-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf158p.E178K
Missense
SNP
0.460
3Gain-
C1orf159-
-
-
-
3Gain-
C1orf167-
-
-
-
3Gain-
C1orf174p.R4W
Missense
DNP
0.200
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf216-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf94-
-
-
-
3Gain-
C1QA-
-
-
-
3Gain-
C1QB-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QTNF12-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2orf71p.P1087S
p.A814V
Missense
Missense
SNP
SNP
0.179
0.395
NDND-
C3p.M83I
Missense
SNP
0.165
2--
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf22p.G87D
Missense
SNP
0.605
NDND-
C4orf3-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf67-
-
-
-
3Gain-
C6p.G915E
Missense
SNP
0.102
3Gain-
C6orf136p.Y445C
Missense
SNP
0.187
1Loss-
C6orf15p.L199F
Missense
SNP
0.517
2--
C6orf203p.P73S
Missense
SNP
0.458
2--
C6orf62-
-
-
-
1Loss-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26p.Q138*
Nonsense
SNP
0.520
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43p.P143L
Missense
SNP
0.453
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61p.P79L
Missense
SNP
0.368
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf74p.E165K
Missense
SNP
0.160
2--
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9p.S263F
Missense
SNP
0.222
3Gain-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
3Gain-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CAAP1-
-
-
-
1Loss-
CABLES2p.G447R
Missense
SNP
0.225
3Gain-
CACNA1Ep.P1940L
Missense
SNP
0.649
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D4p.R781K
p.P22S
Missense
Missense
SNP
SNP
0.250
0.302
2--
CACNB2-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADp.T508I
Missense
SNP
0.201
2--
CADM3-
-
-
-
3Gain-
CADPSp.E1168K
Missense
SNP
0.170
2--
CADPS2-
-
-
-
3Gain-
CAGE1p.G715R
Missense
SNP
0.477
2--
CALB1p.G245E
Missense
SNP
0.165
3Gain-
CALB2-
-
-
-
1Loss-
CALCR-
-
-
-
4Gain-
CALD1-
-
-
-
3Gain-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
1Loss-
CALML6-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1p.D170N
Missense
SNP
0.445
2--
CAMK1D-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMK2N1-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKMTp.P314S
Missense
SNP
0.368
2--
CAMSAP2-
-
-
-
3Gain-
CAMTA1-
-
-
-
3Gain-
CAMTA2p.P888S
Missense
SNP
0.274
1Loss-
CAND1p.A1176V
Missense
SNP
0.525
2--
CAPN1p.S622F
Missense
SNP
0.503
2--
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CAPZB-
-
-
-
3Gain-
CARD10p.P816S
Missense
SNP
0.389
2--
CARD11-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARMIL1-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASD1-
-
-
-
4Gain-
CASP2-
-
-
-
3Gain-
CASP6-
-
-
-
1Loss-
CASP7p.P141S
Missense
SNP
0.619
2--
CASP9-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CASS4-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CASZ1p.P982L
Missense
SNP
0.316
3Gain-
CATSPER2-
-
-
-
0Del-
CATSPER3p.N112S
Missense
SNP
0.270
2--
CATSPER4-
-
-
-
3Gain-
CATSPERE-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBFA2T2p.P410L
Missense
SNP
0.262
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN1-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBWD1-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CCDC102A-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC13p.E103K
Missense
SNP
0.220
2--
CCDC136-
-
-
-
3Gain-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC158-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC168p.L5698F
p.R3436W
Missense
Missense
SNP
SNP
0.218
0.168
2--
CCDC171-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC28B-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC33-
-
-
-
3Gain-
CCDC39p.N53I
Missense
SNP
0.100
2--
CCDC42-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC62-
-
-
-
3Gain-
CCDC7-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC77p.A151V
Missense
SNP
0.204
2--
CCDC80p.R87C
Missense
SNP
0.351
2--
CCDC85Ap.P538L
Missense
SNP
0.224
2--
CCL17-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL27-
-
-
-
1Loss-
CCL28-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCM2L-
-
-
-
3Gain-
CCNA1p.G62D
Missense
SNP
0.182
2--
CCNA2-
-
-
-
1Loss-
CCNB2-
-
-
-
3Gain-
CCNE2-
-
-
-
3Gain-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNO-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCPG1-
-
-
-
3Gain-
CCR2p.L92F
Missense
SNP
0.193
2--
CCSAP-
-
-
-
3Gain-
CCSER1-
-
-
-
1Loss-
CCT2p.P300S
Missense
SNP
0.269
2--
CCT3-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCT7p.H73Y
Missense
SNP
0.392
2--
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD163p.V1059A
p.S696L
Missense
Missense
SNP
SNP
0.204
0.195
2--
CD163L1p.G711E
p.A222V
Missense
Missense
SNP
SNP
0.438
0.437
2--
CD164L2-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD200R1p.E98K
Missense
SNP
0.187
2--
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248p.G219R
Missense
SNP
0.500
2--
CD274-
-
-
-
1Loss-
CD276-
-
-
-
3Gain-
CD300LGp.E277K
Missense
SNP
0.314
2--
CD34-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD38p.S274F
Missense
SNP
0.373
2--
CD40-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD52-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD69p.R134Q
Missense
SNP
0.235
2--
CD84p.D297N
Missense
SNP
0.666
3Gain-
CDA-
-
-
-
3Gain-
CDC123-
-
-
-
1Loss-
CDC14Ap.R345*
Nonsense
SNP
0.229
2--
CDC14C-
-
-
-
3Gain-
CDC20B-
-
-
-
3Gain-
CDC37L1-
-
-
-
1Loss-
CDC42-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH10p.N133T
Missense
SNP
0.211
3Gain-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16p.L459F
Missense
DNP
0.640
1Loss-
CDH17p.G770E
Missense
SNP
0.133
3Gain-
CDH18-
-
-
-
3Gain-
CDH22p.S605F
Missense
SNP
0.313
3Gain-
CDH26-
-
-
-
3Gain-
CDH3-
-
-
-
1Loss-
CDH4-
-
-
-
3Gain-
CDH5-
-
-
-
1Loss-
CDH6p.D294N
p.R429K
Missense
Missense
SNP
SNP
0.328
0.116
3Gain-
CDH8p.D668N
Missense
SNP
0.189
1Loss-
CDH9-
-
-
-
3Gain-
CDHR2p.X256_splice
Splice_Site
SNP
0.412
2--
CDHR3-
-
-
-
3Gain-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14p.H361Y
Missense
SNP
0.140
3Gain-
CDK18-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDK5RAP2p.S245F
Missense
SNP
0.744
2--
CDK6-
-
-
-
4Gain-
CDKL2-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDONp.R1115*
Nonsense
SNP
0.169
2--
CDPF1-
-
-
-
3Gain-
CDR1p.ED131DN
p.D122N
Missense
Missense
DNP
SNP
0.313
0.605
NDND-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEACAM16p.G340D
Missense
SNP
0.194
2--
CEBPB-
-
-
-
3Gain-
CECR2p.E95K
Missense
SNP
0.170
2--
CELA2A-
-
-
-
3Gain-
CELA2B-
-
-
-
3Gain-
CELA3A-
-
-
-
3Gain-
CELA3B-
-
-
-
3Gain-
CELF2-
-
-
-
1Loss-
CELF6p.Q155*
Nonsense
SNP
0.299
3Gain-
CELSR1-
-
-
-
3Gain-
CELSR2p.W112*
Nonsense
DNP
0.626
2--
CEMIP-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPS-
-
-
-
3Gain-
CENPS-CORT-
-
-
-
3Gain-
CENPT-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP104p.R55Q
Missense
SNP
0.351
3Gain-
CEP112p.P218S
Missense
SNP
0.167
2--
CEP128p.R1005C
Missense
SNP
0.571
2--
CEP162p.E623K
Missense
SNP
0.164
2--
CEP170-
-
-
-
3Gain-
CEP170Bp.S291F
Missense
SNP
0.208
2--
CEP250-
-
-
-
3Gain-
CEP295p.S1302L
Missense
SNP
0.195
2--
CEP350p.S1256F
Missense
SNP
0.636
3Gain-
CEP41-
-
-
-
3Gain-
CEP85-
-
-
-
3Gain-
CER1p.K141T
Missense
SNP
0.442
1Loss-
CERK-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1p.D116N
Missense
SNP
0.467
2--
CETP-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP20-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP54p.C1127G
p.K2152E
Missense
Missense
SNP
SNP
0.426
0.471
2--
CFAP57p.G639D
Missense
SNP
0.185
2--
CFAP69-
-
-
-
3Gain-
CFAP74-
-
-
-
3Gain-
CFAP99p.E189K
p.E251K
Missense
Missense
SNP
SNP
0.138
0.212
2--
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4p.G531E
Missense
SNP
0.693
3Gain-
CFHR5-
-
-
-
3Gain-
CFIp.R339Q
Missense
SNP
0.695
1Loss-
CFTRp.P676S
Missense
SNP
0.458
3Gain-
CGNL1-
-
-
-
3Gain-
CHAT-
-
-
-
1Loss-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHD1p.H1557Y
Missense
SNP
0.269
2--
CHD2-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD5-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD7p.S2865L
Missense
SNP
0.188
3Gain-
CHD9-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHIT1p.V197L
Missense
SNP
0.131
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRDp.P801L
Missense
SNP
0.393
2--
CHRFAM7A-
-
-
-
3Gain-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRNA2p.E28K
Missense
SNP
0.320
2--
CHRNA3-
-
-
-
3Gain-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3p.M304I
Missense
SNP
0.247
NDND-
CHRNB4-
-
-
-
3Gain-
CHRNDp.P152L
Missense
SNP
0.173
2--
CHRNE-
-
-
-
1Loss-
CHST12p.P365S
Missense
SNP
0.257
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHSY1-
-
-
-
3Gain-
CHSY3p.H837Y
Missense
SNP
0.202
2--
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CILP-
-
-
-
3Gain-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CIZ1p.P194S
Missense
SNP
0.513
2--
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT1A-
-
-
-
0Del-
CKMT1B-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLCN2p.Y553C
Missense
SNP
0.317
2--
CLCN6-
-
-
-
3Gain-
CLCNKAp.E3K
Missense
SNP
0.374
3Gain-
CLCNKBp.G23N
Missense
DNP
0.455
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN14p.M18I
Missense
SNP
0.210
2--
CLDN15-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4p.V100M
Missense
SNP
0.230
3Gain-
CLDN6p.L174*
p.L173F
Nonsense
Missense
SNP
SNP
0.295
0.293
2--
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC16Ap.S53F
Missense
SNP
0.330
2--
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLIC4-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
3Gain-
CLN3p.P234S
Missense
SNP
0.139
2--
CLN6-
-
-
-
3Gain-
CLPX-
-
-
-
3Gain-
CLSPN-
-
-
-
3Gain-
CLSTN1-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLVS1-
-
-
-
3Gain-
CLVS2p.D93N
Missense
SNP
0.482
2--
CMA1p.E21V
Missense
SNP
0.386
2--
CMC2-
-
-
-
1Loss-
CMIPp.S349F
Missense
SNP
0.282
1Loss-
CMKLR1p.P313S
Missense
SNP
0.233
2--
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBD1p.T143A
Missense
SNP
0.280
3Gain-
CNBD2-
-
-
-
3Gain-
CNEP1R1-
-
-
-
1Loss-
CNGA2p.D555N
Missense
SNP
0.338
NDND-
CNGB1-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
3Gain-
CNOT1-
-
-
-
1Loss-
CNOT2p.T93I
Missense
SNP
0.428
2--
CNOT4-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNR2-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN2-
-
-
-
3Gain-
CNTN4p.D217N
Missense
SNP
0.232
2--
CNTNAP1p.S584F
Missense
SNP
0.213
2--
CNTNAP2-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
CNTNAP5p.E1290K
Missense
SNP
0.242
2--
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COASYp.F330L
Missense
SNP
0.222
2--
COBL-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG7p.E610G
Missense
SNP
0.154
2--
COG8-
-
-
-
1Loss-
COL10A1p.G206D
Missense
SNP
0.227
2--
COL11A1p.P1355S
Missense
SNP
0.197
2--
COL14A1-
-
-
-
3Gain-
COL19A1p.R877*
Nonsense
SNP
0.235
2--
COL1A2-
-
-
-
4Gain-
COL20A1-
-
-
-
3Gain-
COL21A1p.G922E
p.G533S
Missense
Missense
SNP
SNP
0.275
0.289
2--
COL22A1p.P671L
Missense
SNP
0.160
3Gain-
COL25A1-
-
-
-
1Loss-
COL26A1p.C126W
Missense
SNP
0.300
3Gain-
COL27A1p.X945_splice
Splice_Site
SNP
0.526
2--
COL28A1-
-
-
-
3Gain-
COL4A3p.P460S
p.G839R
Missense
Missense
SNP
SNP
0.368
0.187
2--
COL4A4p.W1596*
p.P917S
p.P883S
Nonsense
Missense
Missense
SNP
SNP
SNP
0.184
0.237
0.179
2--
COL5A1p.P560L
Missense
SNP
0.698
2--
COL6A5p.P1717S
Missense
SNP
0.422
2--
COL8A2p.G179R
Missense
SNP
0.188
3Gain-
COL9A1p.P892S
Missense
SNP
0.189
2--
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLGALT1p.E314K
Missense
SNP
0.414
2--
COLGALT2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
3Gain-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COMTp.E68K
Missense
DNP
0.428
2--
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COQ2-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORO2B-
-
-
-
3Gain-
CORT-
-
-
-
3Gain-
COTL1-
-
-
-
1Loss-
COX10p.P382S
Missense
SNP
0.225
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX4I2-
-
-
-
3Gain-
COX5A-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPEp.G178D
Missense
SNP
0.269
2--
CPEB1-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLANE2-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPMp.R289C
Missense
SNP
0.202
2--
CPNE1-
-
-
-
3Gain-
CPNE2-
-
-
-
1Loss-
CPNE3-
-
-
-
3Gain-
CPNE4p.S234F
Missense
SNP
0.220
2--
CPNE7-
-
-
-
1Loss-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPT1Bp.P371F
Missense
DNP
0.380
2--
CPTP-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2p.L317F
Missense
SNP
0.650
3Gain-
CRABP1-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1p.E1122K
Missense
SNP
0.153
3Gain-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L3p.S338F
Missense
SNP
0.410
2--
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBPp.P844S
Missense
SNP
0.140
2--
CREG1-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHR2p.S327F
Missense
SNP
0.240
3Gain-
CRISP2p.G186R
Missense
SNP
0.266
2--
CRISPLD1-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRNNp.G431R
Missense
SNP
0.193
2--
CROCC-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
3Gain-
CRYBB2p.P37S
Missense
SNP
0.376
2--
CRYBG2-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYL1-
-
-
-
3Gain-
CSE1L-
-
-
-
3Gain-
CSF2RBp.K619R
Missense
SNP
0.341
2--
CSF3R-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
1Loss-
CSK-
-
-
-
3Gain-
CSMD1p.G3461E
p.S1514F
p.P39S
Missense
Missense
Missense
SNP
SNP
SNP
0.163
0.286
0.180
2--
CSMD2p.P2299S
p.G2150K
p.P259S
Missense
Missense
Missense
SNP
DNP
SNP
0.494
0.204
0.297
3Gain-
CSMD3p.R1417C
p.E610K
Missense
Missense
SNP
SNP
0.261
0.342
3Gain-
CSN2p.S23L
Missense
SNP
0.210
2--
CSNK1A1p.R244K
Missense
SNP
0.205
2--
CSNK1G1-
-
-
-
3Gain-
CSNK2A2-
-
-
-
1Loss-
CSPG4-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CSRP1-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CSTF2T-
-
-
-
1Loss-
CT62-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
1Loss-
CTDP1p.P312L
Missense
SNP
0.508
2--
CTHRC1-
-
-
-
3Gain-
CTLA4p.R193K
Missense
SNP
0.193
2--
CTNNBIP1-
-
-
-
3Gain-
CTNNBL1-
-
-
-
3Gain-
CTNND2p.P277S
Missense
SNP
0.276
2--
CTNSp.V340A
Missense
SNP
0.520
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
3Gain-
CTRL-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSE-
-
-
-
3Gain-
CTSH-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL2-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CUX2p.E86K
Missense
SNP
0.256
2--
CX3CL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL8p.E82K
Missense
SNP
0.352
2--
CXCL9-
-
-
-
1Loss-
CXCR1p.N349S
Missense
SNP
0.422
2--
CXorf66p.S151N
Missense
SNP
0.613
NDND-
CXorf67p.S262F
Missense
SNP
0.234
NDND-
CXXC4-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5RLp.G172E
Missense
SNP
0.169
2--
CYBA-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYFIP1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP11A1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP2C18p.A321T
Missense
SNP
0.246
2--
CYP2E1p.T212F
Missense
DNP
0.241
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7p.E382K
p.G48E
p.G31E
Missense
Missense
Missense
SNP
SNP
SNP
0.436
0.198
0.504
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP4A11p.P384S
Missense
SNP
0.182
2--
CYP4F12p.D285N
p.D374N
p.P460S
Missense
Missense
Missense
SNP
SNP
SNP
0.367
0.201
0.400
2--
CYP51A1-
-
-
-
3Gain-
CYP7B1p.R452Q
p.P96L
Missense
Missense
SNP
SNP
0.144
0.250
3Gain-
CYP8B1p.M47I
Missense
SNP
0.160
2--
CYREN-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DAB2-
-
-
-
3Gain-
DACH2p.D158N
Missense
SNP
0.332
NDND-
DAGLB-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPK2-
-
-
-
3Gain-
DAPP1-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DCAF12-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF4L2p.R125W
Missense
SNP
0.319
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCDC2B-
-
-
-
3Gain-
DCHS2-
-
-
-
1Loss-
DCLK1p.G393E
p.R60C
Missense
Missense
SNP
SNP
0.226
0.200
2--
DCLK2-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
3Gain-
DCTN3-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDI2-
-
-
-
3Gain-
DDIT4L-
-
-
-
1Loss-
DDOST-
-
-
-
3Gain-
DDR1-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX28-
-
-
-
1Loss-
DDX4-
-
-
-
3Gain-
DDX50p.M528V
Missense
SNP
0.248
2--
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DECR1-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEF8p.L35F
Missense
SNP
0.591
1Loss-
DEFB110p.E50K
Missense
SNP
0.191
2--
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENR-
-
-
-
3Gain-
DEPDC1B-
-
-
-
3Gain-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL2-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
3Gain-
DFFA-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGCR8p.A722V
Missense
DNP
0.203
2--
DGKBp.G108C
Missense
SNP
0.261
3Gain-
DGKI-
-
-
-
3Gain-
DHDDS-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS3-
-
-
-
3Gain-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHRS9p.R41K
Missense
SNP
0.133
2--
DHTKD1-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX29-
-
-
-
3Gain-
DHX33-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX38-
-
-
-
1Loss-
DHX8p.G897R
Missense
SNP
0.198
2--
DHX9p.R781C
Missense
SNP
0.162
3Gain-
DIDO1p.S1617F
Missense
SNP
0.188
3Gain-
DIP2C-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2p.L1022F
Missense
SNP
0.480
2--
DISP3p.R222Q
Missense
SNP
0.159
3Gain-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLG4-
-
-
-
1Loss-
DLGAP3p.R653S
Missense
SNP
0.471
3Gain-
DLGAP4-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6p.P195S
p.R219C
Missense
Missense
SNP
SNP
0.101
0.199
3Gain-
DMAC1-
-
-
-
1Loss-
DMDp.L510F
Missense
SNP
0.542
NDND-
DMP1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMWDp.P276S
Missense
SNP
0.191
2--
DMXL1p.G1150D
Missense
SNP
0.228
2--
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH1p.L3278V
Missense
SNP
0.408
2--
DNAH11-
-
-
-
3Gain-
DNAH14p.S2138F
p.P2404L
Missense
Missense
SNP
SNP
0.139
0.160
3Gain-
DNAH17p.D4080N
p.E1352K
Missense
Missense
SNP
SNP
0.447
0.241
2--
DNAH2-
-
-
-
1Loss-
DNAH3p.E3387K
p.S1958F
Missense
Missense
SNP
SNP
0.375
0.191
2--
DNAH5p.R4592*
p.D4260N
p.E2734K
p.S2025F
p.R1805C
p.E1315K
Nonsense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.180
0.348
0.327
0.206
0.372
0.384
2--
DNAH6p.G574E
Missense
SNP
0.409
2--
DNAH7p.P1940S
p.D1568N
p.E483K
p.P333S
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.198
0.275
0.325
0.333
2--
DNAH9p.A1589T
p.W1679*
Missense
Nonsense
SNP
SNP
0.294
0.177
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA4-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC11-
-
-
-
3Gain-
DNAJC16p.S227F
p.H530Y
Missense
Missense
SNP
SNP
0.310
0.329
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC8-
-
-
-
3Gain-
DNALI1-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT3B-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DOC2B-
-
-
-
1Loss-
DOCK1p.L1750Q
Missense
DNP
0.710
2--
DOCK2p.X1763_splice
Splice_Site
SNP
0.524
2--
DOCK3p.X73_splice
p.P494L
Splice_Site
Missense
SNP
SNP
0.307
0.221
2--
DOCK4p.P1327S
Missense
SNP
0.102
3Gain-
DOCK5p.S1306L
Missense
SNP
0.237
2--
DOCK6p.D967N
p.G655S
Missense
Missense
SNP
SNP
0.169
0.300
2--
DOCK8p.S1573F
Missense
SNP
0.481
1Loss-
DOK1p.P423F
Missense
DNP
0.415
2--
DOK4-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DPCR1p.P1059L
Missense
SNP
0.547
NDND-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP10p.R562Q
Missense
SNP
0.315
2--
DPP4p.S764F
Missense
SNP
0.451
2--
DPP6-
-
-
-
3Gain-
DPP8-
-
-
-
3Gain-
DPPA4p.E155K
Missense
SNP
0.132
2--
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L4p.S435F
Missense
SNP
0.308
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL3p.G578R
Missense
SNP
0.205
2--
DPYSL4-
-
-
-
1Loss-
DPYSL5p.A199V
Missense
SNP
0.177
2--
DRAM1p.P149L
Missense
SNP
0.203
2--
DRAXIN-
-
-
-
3Gain-
DRC3-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD5p.G37E
Missense
SNP
0.212
2--
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC2p.G263E
Missense
SNP
0.469
2--
DSC3p.E400K
Missense
SNP
0.221
2--
DSCAML1p.P315S
Missense
DNP
0.364
2--
DSCC1p.X309_splice
Splice_Site
SNP
0.294
3Gain-
DSN1-
-
-
-
3Gain-
DSPp.R1341C
p.Y1465*
Missense
Nonsense
DNP
SNP
0.171
0.438
2--
DSPP-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNAp.S60F
Missense
SNP
0.258
2--
DTX2-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP15-
-
-
-
3Gain-
DUSP21p.E64K
Missense
SNP
0.670
NDND-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUXB-
-
-
-
1Loss-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1p.E4142K
Missense
SNP
0.250
2--
DYNLRB1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DYTNp.E75K
Missense
SNP
0.228
2--
DZIP1p.R417K
Missense
SNP
0.276
2--
E2F1p.R166C
Missense
SNP
0.110
3Gain-
E2F2-
-
-
-
3Gain-
E2F3p.L310P
Missense
SNP
0.450
2--
E2F4-
-
-
-
1Loss-
E2F5p.S234R
p.S235L
Missense
Missense
SNP
SNP
0.318
0.313
3Gain-
EBAG9-
-
-
-
3Gain-
EBF4p.G76R
Missense
SNP
0.378
2--
EBLN1-
-
-
-
1Loss-
ECE1-
-
-
-
3Gain-
ECE2p.R248Q
Missense
SNP
0.191
2--
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
EDARp.H173R
Missense
SNP
0.505
2--
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB12p.E411K
Missense
SNP
0.241
2--
EFCAB2-
-
-
-
3Gain-
EFCAB6p.N290S
Missense
SNP
0.454
2--
EFCAB8-
-
-
-
3Gain-
EFCAB9p.S22F
Missense
SNP
0.504
2--
EFCC1p.G234R
p.C429W
Missense
Missense
SNP
SNP
0.154
0.167
2--
EFHD2-
-
-
-
3Gain-
EFL1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EGFp.X110_splice
Splice_Site
SNP
0.789
1Loss-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EHBP1p.P637L
Missense
SNP
0.229
2--
EIF2AK1-
-
-
-
3Gain-
EIF2AK2p.S242F
Missense
SNP
0.223
2--
EIF2D-
-
-
-
3Gain-
EIF2S2-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3Dp.L509F
Missense
SNP
0.389
2--
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3I-
-
-
-
3Gain-
EIF4A1-
-
-
-
1Loss-
EIF4A2p.Q202*
Nonsense
SNP
0.405
2--
EIF4E-
-
-
-
1Loss-
EIF4G1p.T674A
Missense
SNP
0.370
2--
EIF4G3-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL4p.X120_splice
Splice_Site
SNP
0.609
2--
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELFN2p.E719K
Missense
SNP
0.245
2--
ELK4-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOA-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELOVL6-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMB-
-
-
-
3Gain-
EMC1-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMC6-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EML4p.A289V
Missense
SNP
0.225
2--
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENHO-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO1-
-
-
-
3Gain-
ENO3-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOX2p.R237C
Missense
SNP
0.608
NDND-
ENPEP-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENTPD3p.E483K
Missense
SNP
0.207
2--
ENY2-
-
-
-
3Gain-
EP300p.P2064L
Missense
SNP
0.414
2--
EP400p.S2650F
p.Q2704*
Missense
Nonsense
SNP
SNP
0.403
0.405
2--
EPAS1p.P599L
Missense
SNP
0.377
2--
EPB41-
-
-
-
3Gain-
EPB41L1-
-
-
-
3Gain-
EPB41L4Ap.M374I
Missense
SNP
0.378
2--
EPC1-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA2-
-
-
-
3Gain-
EPHA3p.A272T
Missense
SNP
0.415
2--
EPHA4p.R466W
p.W348*
Missense
Nonsense
SNP
SNP
0.345
0.391
2--
EPHA6p.D770N
Missense
SNP
0.375
2--
EPHA7p.S287F
Missense
SNP
0.275
2--
EPHA8-
-
-
-
3Gain-
EPHB2p.R311K
Missense
SNP
0.265
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX2p.E444K
Missense
SNP
0.232
2--
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
3Gain-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPXp.P269S
Missense
SNP
0.257
2--
EQTN-
-
-
-
1Loss-
ERC2p.K776*
p.R88*
Nonsense
Nonsense
SNP
SNP
0.364
0.393
2--
ERCC6-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERICH3p.E978K
Missense
SNP
0.622
2--
ERICH5-
-
-
-
3Gain-
ERMP1-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERRFI1-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESM1-
-
-
-
3Gain-
ESPL1p.P308S
Missense
SNP
0.258
2--
ESPN-
-
-
-
3Gain-
ESRP1-
-
-
-
3Gain-
ESRP2-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETFA-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETNPPL-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV6p.L117F
Missense
SNP
0.263
2--
EVA1B-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXD1p.G386R
Missense
SNP
0.755
2--
EXO1-
-
-
-
3Gain-
EXOC1p.S491F
Missense
SNP
0.367
2--
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC10p.P67S
Missense
SNP
0.321
3Gain-
EXOSC2p.P13L
Missense
SNP
0.253
2--
EXOSC4-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXTL1-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
3Gain-
EYA4p.D404N
Missense
SNP
0.232
2--
EZH2-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F13Bp.M403I
Missense
SNP
0.155
3Gain-
F5p.Q960*
Nonsense
SNP
0.255
3Gain-
F9p.E259K
Missense
SNP
0.280
NDND-
FA2H-
-
-
-
1Loss-
FAAP20-
-
-
-
3Gain-
FABP12-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAH-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM110D-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM131C-
-
-
-
3Gain-
FAM133B-
-
-
-
4Gain-
FAM135B-
-
-
-
3Gain-
FAM13A-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM151Bp.S238F
Missense
SNP
0.192
2--
FAM160A1-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM167B-
-
-
-
3Gain-
FAM169B-
-
-
-
3Gain-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM179Ap.G153E
Missense
SNP
0.415
NDND-
FAM180A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM189A1-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM192A-
-
-
-
1Loss-
FAM19A5-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM205A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
1Loss-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
1Loss-
FAM219B-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM227Ap.P410S
Missense
SNP
0.339
2--
FAM229A-
-
-
-
3Gain-
FAM241A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM43B-
-
-
-
3Gain-
FAM47Cp.G770R
p.S894F
Missense
Missense
SNP
SNP
0.316
0.251
NDND-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM57A-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76A-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83Fp.L442F
Missense
SNP
0.220
2--
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
3Gain-
FAM84Ap.S97F
Missense
SNP
0.187
2--
FAM84Bp.V167I
Missense
SNP
0.164
3Gain-
FAM89A-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FAN1-
-
-
-
3Gain-
FANCA-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FANCI-
-
-
-
3Gain-
FARSAp.P45S
Missense
SNP
0.410
2--
FASLG-
-
-
-
3Gain-
FASTKp.G84R
Missense
SNP
0.278
3Gain-
FAT1p.S4272F
Missense
SNP
0.182
2--
FAT3p.S239F
p.G618E
p.G1858E
Missense
Missense
Missense
SNP
SNP
SNP
0.497
0.245
0.495
2--
FBH1-
-
-
-
1Loss-
FBLIM1-
-
-
-
3Gain-
FBLN1-
-
-
-
3Gain-
FBLN5p.P70S
Missense
SNP
0.207
2--
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL22-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FBXL8-
-
-
-
1Loss-
FBXO18p.R754W
Missense
SNP
0.607
NDND-
FBXO2-
-
-
-
3Gain-
FBXO22-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
3Gain-
FBXO38p.P273S
Missense
SNP
0.285
2--
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO42-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO44-
-
-
-
3Gain-
FBXO6-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FBXW11p.R414C
Missense
SNP
0.235
2--
FBXW7-
-
-
-
1Loss-
FCAMRp.P312L
p.R167C
Missense
Missense
SNP
SNP
0.335
0.127
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1Bp.R222K
Missense
SNP
0.154
2--
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCN3-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FEM1B-
-
-
-
3Gain-
FER1L6-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FES-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FFAR4p.S206W
Missense
SNP
0.444
2--
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5p.M1169I
Missense
SNP
0.345
2--
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGFR4p.P689S
Missense
SNP
0.204
2--
FGG-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FGR-
-
-
-
3Gain-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHL5p.K19N
Missense
SNP
0.427
2--
FHOD1-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FITM2-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
1Loss-
FLT3p.T227M
Missense
SNP
0.441
2--
FLT4p.D1061G
Missense
SNP
0.529
2--
FLVCR1-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMN2p.P1208S
Missense
SNP
0.664
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC5-
-
-
-
3Gain-
FNDC7p.S76F
Missense
SNP
0.218
2--
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLH1p.X480_splice
Splice_Site
SNP
0.548
2--
FOXA3p.P250S
Missense
SNP
0.235
2--
FOXB1-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXM1p.Y129*
Nonsense
SNP
0.249
2--
FOXP2-
-
-
-
3Gain-
FOXS1-
-
-
-
3Gain-
FPR3p.P8L
Missense
SNP
0.257
2--
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCBp.S186L
Missense
SNP
0.216
2--
FSCN1-
-
-
-
3Gain-
FSCN2p.D285N
Missense
SNP
0.215
2--
FSCN3-
-
-
-
3Gain-
FSD2-
-
-
-
3Gain-
FSHRp.G670D
Missense
SNP
0.398
2--
FSIP2p.R626K
p.E930K
Missense
Missense
SNP
SNP
0.426
0.186
2--
FST-
-
-
-
3Gain-
FTO-
-
-
-
1Loss-
FUCA1-
-
-
-
3Gain-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUT9p.D339N
Missense
SNP
0.510
2--
FXR2-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD10p.P547L
Missense
SNP
0.240
2--
FZD6-
-
-
-
3Gain-
FZD8-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
G3BP2-
-
-
-
1Loss-
GAB4p.M140I
Missense
SNP
0.151
2--
GABARAP-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABBR1-
-
-
-
1Loss-
GABRA5-
-
-
-
3Gain-
GABRB2p.V148I
Missense
SNP
0.105
2--
GABRB3p.V62I
Missense
SNP
0.128
3Gain-
GABRD-
-
-
-
3Gain-
GABRG2p.R419W
Missense
SNP
0.260
2--
GABRG3-
-
-
-
3Gain-
GAD2p.P401S
Missense
DNP
0.211
1Loss-
GAL3ST3p.P53F
Missense
DNP
0.172
2--
GAL3ST4-
-
-
-
3Gain-
GALE-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT9p.S7F
Missense
DNP
0.202
2--
GALNTL5-
-
-
-
3Gain-
GALT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GAPT-
-
-
-
3Gain-
GAR1-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATAD1-
-
-
-
4Gain-
GATAD2B-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATSL2p.P93L
Missense
SNP
0.333
NDND-
GBA-
-
-
-
3Gain-
GBA3p.D105N
p.H201Y
Missense
Missense
SNP
SNP
0.268
0.332
2--
GBE1p.S111L
Missense
SNP
0.383
2--
GBX1-
-
-
-
3Gain-
GCp.D355N
Missense
SNP
0.337
2--
GCC1-
-
-
-
3Gain-
GCKp.E52K
Missense
SNP
0.198
3Gain-
GCM1p.E386K
p.P282L
Missense
Missense
SNP
SNP
0.446
0.187
2--
GCN1-
-
-
-
3Gain-
GCNT3-
-
-
-
3Gain-
GCNT4p.S201F
Missense
SNP
0.406
2--
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
3Gain-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPGP1-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GEMIN4-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFRA3p.H63Y
Missense
SNP
0.179
2--
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT5p.Y573F
Missense
SNP
0.155
2--
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4p.S100F
Missense
SNP
0.471
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6p.V199M
Missense
SNP
0.104
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIMD1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GJA10p.D132N
Missense
SNP
0.172
2--
GJA3-
-
-
-
3Gain-
GJA4-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB3-
-
-
-
3Gain-
GJB4-
-
-
-
3Gain-
GJB5-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI2p.S388F
p.D856N
p.P1547L
Missense
Missense
Missense
SNP
SNP
SNP
0.184
0.163
0.308
2--
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GLIS3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLOD4p.S31F
Missense
SNP
0.478
1Loss-
GLP2R-
-
-
-
1Loss-
GLRBp.W139*
Nonsense
SNP
0.362
2--
GLRX2-
-
-
-
3Gain-
GLSp.S482F
Missense
SNP
0.369
2--
GLT8D1-
-
-
-
3Gain-
GLTPD2-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GMEB1-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GMNN-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAS-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB1-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
4Gain-
GNG4-
-
-
-
3Gain-
GNGT1-
-
-
-
4Gain-
GNL1-
-
-
-
1Loss-
GNL2-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GOLGA4p.P101S
Missense
SNP
0.178
2--
GOLGA6B-
-
-
-
3Gain-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
3Gain-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8R-
-
-
-
3Gain-
GOLGA8S-
-
-
-
3Gain-
GOLGB1p.D21G
Missense
SNP
0.338
2--
GOLPH3-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GOT2-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP2p.R112Q
Missense
SNP
0.214
2--
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPAT3-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH3p.D291N
Missense
SNP
0.122
3Gain-
GPATCH4-
-
-
-
3Gain-
GPBP1-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPC5p.G506R
Missense
SNP
0.194
2--
GPER1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPLD1p.M126I
Missense
SNP
0.315
2--
GPM6Ap.M77I
Missense
SNP
0.370
2--
GPN2-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR141p.G156E
p.E267K
Missense
Missense
SNP
SNP
0.428
0.119
3Gain-
GPR146-
-
-
-
3Gain-
GPR153-
-
-
-
3Gain-
GPR157-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR179p.G1765E
Missense
SNP
0.269
2--
GPR20-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR3-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52p.V208D
Missense
SNP
0.233
3Gain-
GPR65p.G50E
Missense
SNP
0.249
2--
GPR83p.A325V
Missense
SNP
0.487
2--
GPR85-
-
-
-
3Gain-
GPRASP2p.S485F
Missense
SNP
0.670
NDND-
GPRC6Ap.T710N
Missense
SNP
0.250
2--
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPTp.E305K
Missense
DNP
0.338
3Gain-
GPT2-
-
-
-
1Loss-
GPX5-
-
-
-
1Loss-
GPX6-
-
-
-
1Loss-
GPX8-
-
-
-
3Gain-
GRAMD2A-
-
-
-
3Gain-
GRAMD4p.S28L
p.M205I
Missense
Missense
SNP
SNP
0.183
0.330
3Gain-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHL3-
-
-
-
3Gain-
GRIA4p.W16*
Nonsense
SNP
0.215
2--
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2p.P338S
p.E808K
Missense
Missense
SNP
SNP
0.251
0.231
2--
GRIK3-
-
-
-
3Gain-
GRIN2Cp.E329K
Missense
SNP
0.262
2--
GRIN3Ap.P882L
p.Y432N
p.E340K
Missense
Missense
Missense
SNP
SNP
SNP
0.723
0.663
0.426
2--
GRIN3Bp.W513*
Nonsense
SNP
0.350
2--
GRINA-
-
-
-
3Gain-
GRIP2p.T311I
Missense
SNP
0.356
2--
GRM1p.R661C
Missense
SNP
0.114
2--
GRM3-
-
-
-
3Gain-
GRM4p.R61K
Missense
SNP
0.254
2--
GRM5p.P83S
Missense
SNP
0.186
2--
GRM8p.P719L
Missense
SNP
0.436
3Gain-
GRPRp.A153V
Missense
SNP
0.267
NDND-
GSAP-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSS-
-
-
-
3Gain-
GSTA1p.D42E
Missense
SNP
0.250
2--
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTM3p.P206L
Missense
SNP
0.262
2--
GTDC1p.P270S
Missense
SNP
0.210
2--
GTF2A2-
-
-
-
3Gain-
GTF2H4-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GTPBP8p.L20P
Missense
SNP
0.357
2--
GTSE1p.P280S
Missense
SNP
0.319
3Gain-
GTSF1L-
-
-
-
3Gain-
GUCY1B3p.L38F
Missense
SNP
0.430
NDND-
GUCY2Cp.D179N
Missense
SNP
0.211
2--
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GZMA-
-
-
-
3Gain-
GZMK-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFZ-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H6PD-
-
-
-
3Gain-
HACD1-
-
-
-
1Loss-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
3Gain-
HAS1p.A47V
Missense
SNP
0.145
2--
HAS2-
-
-
-
3Gain-
HAS3-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAUS8p.P248L
Missense
SNP
0.393
2--
HAX1-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC1p.R847C
p.L846P
Missense
Missense
SNP
SNP
0.531
0.520
NDND-
HCKp.E221K
Missense
SNP
0.330
3Gain-
HCN1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
3Gain-
HCRTR1-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDAC7p.P401F
Missense
DNP
0.181
2--
HDAC9-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR3p.A275V
Missense
SNP
0.660
1Loss-
HECW1-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELZp.D709E
Missense
SNP
0.514
2--
HELZ2-
-
-
-
3Gain-
HEPACAMp.T78I
Missense
SNP
0.437
2--
HEPACAM2-
-
-
-
4Gain-
HERC1p.P3669S
Missense
SNP
0.176
3Gain-
HERC2-
-
-
-
3Gain-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HEXA-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HFE-
-
-
-
1Loss-
HFM1p.P1251S
Missense
SNP
0.557
2--
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIF1ANp.A329V
Missense
SNP
0.707
2--
HIGD2B-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HINFPp.S139F
Missense
SNP
0.525
2--
HIP1-
-
-
-
3Gain-
HIP1Rp.E795K
Missense
SNP
0.211
3Gain-
HIPK2-
-
-
-
3Gain-
HIST1H1A-
-
-
-
1Loss-
HIST1H1B-
-
-
-
1Loss-
HIST1H1C-
-
-
-
1Loss-
HIST1H1D-
-
-
-
1Loss-
HIST1H1E-
-
-
-
1Loss-
HIST1H1T-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2AB-
-
-
-
1Loss-
HIST1H2AC-
-
-
-
1Loss-
HIST1H2AD-
-
-
-
1Loss-
HIST1H2AE-
-
-
-
1Loss-
HIST1H2AG-
-
-
-
1Loss-
HIST1H2AH-
-
-
-
1Loss-
HIST1H2AI-
-
-
-
1Loss-
HIST1H2AJ-
-
-
-
1Loss-
HIST1H2AK-
-
-
-
1Loss-
HIST1H2AL-
-
-
-
1Loss-
HIST1H2AM-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HIST1H2BB-
-
-
-
1Loss-
HIST1H2BC-
-
-
-
1Loss-
HIST1H2BD-
-
-
-
1Loss-
HIST1H2BE-
-
-
-
1Loss-
HIST1H2BF-
-
-
-
1Loss-
HIST1H2BG-
-
-
-
1Loss-
HIST1H2BH-
-
-
-
1Loss-
HIST1H2BI-
-
-
-
1Loss-
HIST1H2BJ-
-
-
-
1Loss-
HIST1H2BK-
-
-
-
1Loss-
HIST1H2BL-
-
-
-
1Loss-
HIST1H2BM-
-
-
-
1Loss-
HIST1H2BN-
-
-
-
1Loss-
HIST1H2BO-
-
-
-
1Loss-
HIST1H3A-
-
-
-
1Loss-
HIST1H3B-
-
-
-
1Loss-
HIST1H3C-
-
-
-
1Loss-
HIST1H3D-
-
-
-
1Loss-
HIST1H3E-
-
-
-
1Loss-
HIST1H3F-
-
-
-
1Loss-
HIST1H3G-
-
-
-
1Loss-
HIST1H3H-
-
-
-
1Loss-
HIST1H3I-
-
-
-
1Loss-
HIST1H3J-
-
-
-
1Loss-
HIST1H4A-
-
-
-
1Loss-
HIST1H4B-
-
-
-
1Loss-
HIST1H4C-
-
-
-
1Loss-
HIST1H4D-
-
-
-
1Loss-
HIST1H4E-
-
-
-
1Loss-
HIST1H4F-
-
-
-
1Loss-
HIST1H4G-
-
-
-
1Loss-
HIST1H4H-
-
-
-
1Loss-
HIST1H4I-
-
-
-
1Loss-
HIST1H4J-
-
-
-
1Loss-
HIST1H4K-
-
-
-
1Loss-
HIST1H4L-
-
-
-
1Loss-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2p.S1328F
Missense
SNP
0.518
2--
HLA-A-
-
-
-
1Loss-
HLA-E-
-
-
-
1Loss-
HLA-F-
-
-
-
1Loss-
HLA-G-
-
-
-
1Loss-
HLCSp.P132S
Missense
SNP
0.249
2--
HLX-
-
-
-
3Gain-
HM13-
-
-
-
3Gain-
HMCN1p.T2545I
Missense
SNP
0.134
3Gain-
HMG20A-
-
-
-
3Gain-
HMGB4-
-
-
-
3Gain-
HMGCL-
-
-
-
3Gain-
HMGCRp.K401N
Missense
SNP
0.280
2--
HMGCS1-
-
-
-
3Gain-
HMGN2-
-
-
-
3Gain-
HMGN4-
-
-
-
1Loss-
HMGXB4p.P379S
Missense
SNP
0.167
2--
HNF4A-
-
-
-
3Gain-
HNF4Gp.E360K
Missense
SNP
0.241
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
3Gain-
HNRNPCL2-
-
-
-
3Gain-
HNRNPCL3-
-
-
-
3Gain-
HNRNPCL4-
-
-
-
3Gain-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPR-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HOMER2-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB1p.P64S
Missense
SNP
0.492
2--
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
3Gain-
HPCA-
-
-
-
3Gain-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPRT1p.D13E
Missense
SNP
0.700
NDND-
HPSE-
-
-
-
1Loss-
HRCp.E188K
Missense
SNP
0.383
2--
HRH3p.E395K
Missense
SNP
0.310
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST2p.S109F
Missense
DNP
0.329
NDND-
HSBP1-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSF4-
-
-
-
1Loss-
HSH2Dp.P289L
Missense
SNP
0.347
2--
HSPA12Ap.S195F
Missense
SNP
0.519
2--
HSPA14-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPB3-
-
-
-
3Gain-
HSPB7-
-
-
-
3Gain-
HSPG2-
-
-
-
3Gain-
HTR1D-
-
-
-
3Gain-
HTR3Cp.G368R
Missense
SNP
0.185
2--
HTR3Ep.S12F
p.G384E
Missense
Missense
SNP
SNP
0.138
0.371
2--
HTR4p.T385P
Missense
SNP
0.159
2--
HTR5A-
-
-
-
3Gain-
HTR6-
-
-
-
3Gain-
HTRA1p.S441F
Missense
SNP
0.579
2--
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDINp.R375Q
Missense
SNP
0.546
1Loss-
HYKK-
-
-
-
3Gain-
IAPPp.S52F
Missense
SNP
0.243
2--
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
ICA1p.P9S
Missense
SNP
0.192
3Gain-
ICE1p.S949F
Missense
SNP
0.172
2--
ICE2-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ID1-
-
-
-
3Gain-
ID3-
-
-
-
3Gain-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IDH3Bp.P261L
Missense
SNP
0.164
2--
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IER3-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFFO2-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI6-
-
-
-
3Gain-
IFIT3p.H425Y
Missense
SNP
0.462
2--
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-
IFNK-
-
-
-
1Loss-
IFNLR1-
-
-
-
3Gain-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT22p.E98K
Missense
SNP
0.472
3Gain-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IFT88-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1R-
-
-
-
3Gain-
IGF2BP1p.R452C
Missense
SNP
0.494
2--
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGHA1p.A133T
Missense
SNP
0.443
NDND-
IGSF21-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9p.V639I
Missense
SNP
0.619
3Gain-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL11RA-
-
-
-
1Loss-
IL12Bp.E221K
Missense
SNP
0.269
2--
IL15RA-
-
-
-
1Loss-
IL16-
-
-
-
3Gain-
IL17C-
-
-
-
1Loss-
IL17D-
-
-
-
3Gain-
IL17RCp.H160Y
Missense
SNP
0.380
2--
IL19-
-
-
-
3Gain-
IL1F10p.S78F
Missense
SNP
0.407
2--
IL2-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL21-
-
-
-
1Loss-
IL22RA1-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL25p.V27I
Missense
SNP
0.477
1Loss-
IL2RA-
-
-
-
1Loss-
IL31RA-
-
-
-
3Gain-
IL33-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILDR1p.S478F
Missense
SNP
0.344
2--
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMP3-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPDH1p.S537F
Missense
SNP
0.496
3Gain-
INAVA-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5Dp.S263P
Missense
SNP
0.195
2--
INPP5K-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSRRp.E1030K
Missense
SNP
0.723
3Gain-
INSYN1-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS11-
-
-
-
3Gain-
INTS12-
-
-
-
1Loss-
INTS14-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS4p.P107L
Missense
SNP
0.473
2--
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
IPMK-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IPPp.G472E
Missense
SNP
0.208
2--
IQANK1-
-
-
-
3Gain-
IQCC-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCH-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK3p.H166Y
Missense
SNP
0.524
2--
IREB2-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG15-
-
-
-
3Gain-
ISG20-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
3Gain-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ITCH-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA1-
-
-
-
3Gain-
ITGA11-
-
-
-
3Gain-
ITGA2-
-
-
-
3Gain-
ITGA2Bp.X1021_splice
Splice_Site
SNP
0.245
2--
ITGA4p.R261W
p.G539E
Missense
Missense
SNP
SNP
0.374
0.314
2--
ITGA5p.S785Y
Missense
SNP
0.430
2--
ITGA7p.S442N
Missense
SNP
0.423
2--
ITGA8-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB6p.G26V
Missense
SNP
0.362
2--
ITGB8-
-
-
-
3Gain-
ITGBL1p.G203E
Missense
SNP
0.245
2--
ITIH2p.L13F
Missense
SNP
0.278
1Loss-
ITIH5-
-
-
-
1Loss-
ITKp.G452R
Missense
SNP
0.221
2--
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITSN2p.P151L
Missense
SNP
0.201
2--
IVNS1ABP-
-
-
-
3Gain-
IZUMO3-
-
-
-
1Loss-
JADE2p.V330G
Missense
SNP
0.199
2--
JAK2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JARID2p.P687L
p.P766L
Missense
Missense
SNP
SNP
0.455
0.231
2--
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JPH2-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
KALRNp.P1649S
Missense
SNP
0.353
2--
KANK1-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT14p.Q275E
Missense
SNP
0.301
2--
KAT6Bp.S1867F
Missense
SNP
0.397
2--
KATNB1-
-
-
-
1Loss-
KAZNp.V391G
Missense
SNP
0.543
3Gain-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KCNA1p.S390F
Missense
SNP
0.237
2--
KCNA6p.G435E
Missense
SNP
0.261
2--
KCNA7p.P366L
Missense
SNP
0.408
2--
KCNAB2-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB1p.G379E
p.E130K
Missense
Missense
SNP
SNP
0.144
0.129
3Gain-
KCNB2-
-
-
-
3Gain-
KCNC3p.V374M
Missense
SNP
0.389
2--
KCND1p.E142K
Missense
SNP
0.383
NDND-
KCND2-
-
-
-
3Gain-
KCND3p.E72K
Missense
DNP
0.544
2--
KCNF1p.E323K
Missense
SNP
0.394
2--
KCNG1-
-
-
-
3Gain-
KCNG4-
-
-
-
1Loss-
KCNH1p.S94F
Missense
SNP
0.609
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH5p.P953S
p.P701S
p.S594F
p.G434E
p.S142L
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.190
0.430
0.408
0.249
0.195
2--
KCNH8p.S1031L
Missense
SNP
0.141
2--
KCNJ10-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK15-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB2p.M206I
Missense
SNP
0.363
2--
KCNN2p.P525S
Missense
SNP
0.241
2--
KCNN3-
-
-
-
3Gain-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDF1-
-
-
-
3Gain-
KDM1A-
-
-
-
3Gain-
KDM4C-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDRp.S1100F
p.R1032Q
Missense
Missense
SNP
SNP
0.509
0.194
2--
KELp.S318F
p.S277F
Missense
Missense
SNP
SNP
0.426
0.138
3Gain-
KHDC1Lp.D92N
Missense
SNP
0.222
2--
KHDC4-
-
-
-
3Gain-
KHDRBS1-
-
-
-
3Gain-
KHDRBS2p.E93K
Missense
SNP
0.258
2--
KHDRBS3-
-
-
-
3Gain-
KIAA0040-
-
-
-
3Gain-
KIAA0319p.R887Q
Missense
SNP
0.196
1Loss-
KIAA0319L-
-
-
-
3Gain-
KIAA0355p.R874Q
Missense
SNP
0.329
2--
KIAA0408p.S469L
Missense
SNP
0.199
2--
KIAA0513p.H316Y
Missense
SNP
0.315
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA1024-
-
-
-
3Gain-
KIAA1107p.L872K
Missense
DNP
0.518
NDND-
KIAA1109-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1324L-
-
-
-
3Gain-
KIAA1522-
-
-
-
3Gain-
KIAA1549p.A891V
Missense
SNP
0.272
3Gain-
KIAA1551p.E842K
p.P917S
Missense
Missense
SNP
SNP
0.241
0.219
2--
KIAA1614-
-
-
-
3Gain-
KIAA1755-
-
-
-
3Gain-
KIAA2013-
-
-
-
3Gain-
KIAA2022p.P683S
p.E518K
Missense
Missense
SNP
SNP
0.275
0.650
NDND-
KIAA2026-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15p.S327F
Missense
SNP
0.297
2--
KIF17p.E459K
Missense
SNP
0.312
3Gain-
KIF1B-
-
-
-
3Gain-
KIF1C-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
3Gain-
KIF24p.E822K
Missense
SNP
0.325
1Loss-
KIF26B-
-
-
-
3Gain-
KIF3B-
-
-
-
3Gain-
KIF5B-
-
-
-
1Loss-
KIF5Cp.E518K
Missense
SNP
0.226
2--
KIF6p.R242Q
Missense
SNP
0.212
2--
KIF7-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIFC3-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KIR3DL1p.S346L
Missense
SNP
0.170
2--
KIR3DL3p.K393*
Nonsense
SNP
0.356
2--
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF5p.LP343FS
Missense
DNP
0.492
2--
KLF6-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7Ap.E635K
Missense
SNP
0.467
3Gain-
KLHDC7Bp.G234R
Missense
SNP
0.213
2--
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL17-
-
-
-
3Gain-
KLHL18p.P321S
Missense
SNP
0.397
2--
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL25-
-
-
-
3Gain-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL40p.A207V
Missense
SNP
0.159
2--
KLHL7-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLK7p.P232S
Missense
SNP
0.463
2--
KLKB1p.S151L
Missense
SNP
0.137
2--
KLRG1p.P179S
Missense
SNP
0.480
2--
KLRG2-
-
-
-
3Gain-
KMOp.M317I
Missense
SNP
0.394
3Gain-
KMT2Bp.P171S
Missense
SNP
0.394
2--
KMT2C-
-
-
-
3Gain-
KMT2Dp.T2332I
Missense
SNP
0.552
2--
KMT2Ep.E1388K
Missense
SNP
0.526
3Gain-
KMT5Ap.G28N
Missense
DNP
0.377
2--
KNDC1-
-
-
-
1Loss-
KNTC1-
-
-
-
3Gain-
KPNA6-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRIT1-
-
-
-
4Gain-
KRT12p.R158*
Nonsense
SNP
0.229
2--
KRT2p.G571E
Missense
SNP
0.210
2--
KRT28p.H135Y
Missense
SNP
0.394
2--
KRT33Bp.E185K
Missense
SNP
0.418
2--
KRT6Cp.D323N
Missense
SNP
0.231
2--
KRT76p.G154R
Missense
SNP
0.447
2--
KRT84p.E294K
Missense
SNP
0.224
2--
KRTAP1-4p.G48D
Missense
SNP
0.122
NDND-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP4-6p.S4F
Missense
SNP
0.223
2--
KRTAP6-2p.G45D
Missense
SNP
0.203
2--
KRTCAP2-
-
-
-
3Gain-
KSR1p.S111L
Missense
SNP
0.129
2--
L3MBTL1-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LACTB2p.I274K
Missense
SNP
0.155
3Gain-
LACTBL1-
-
-
-
3Gain-
LAD1p.S375F
p.D43N
Missense
Missense
SNP
SNP
0.683
0.344
3Gain-
LAMA2p.R1319*
Nonsense
SNP
0.250
2--
LAMA5p.G1723E
Missense
SNP
0.279
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LAPTM5-
-
-
-
3Gain-
LARGE2p.V517I
Missense
SNP
0.216
2--
LARP4B-
-
-
-
1Loss-
LARP6-
-
-
-
3Gain-
LARP7-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LATS2p.S274F
Missense
SNP
0.297
3Gain-
LAX1-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCAT-
-
-
-
1Loss-
LCE1Cp.P39S
Missense
SNP
0.135
2--
LCE5Ap.S41L
Missense
SNP
0.515
2--
LCK-
-
-
-
3Gain-
LCORp.I238N
p.A1200T
Missense
Missense
SNP
SNP
0.240
0.252
2--
LCTL-
-
-
-
3Gain-
LDHAL6B-
-
-
-
3Gain-
LDHD-
-
-
-
1Loss-
LDLRAD2-
-
-
-
3Gain-
LDLRAP1-
-
-
-
3Gain-
LEF1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LENG8p.T332I
Missense
SNP
0.433
2--
LEP-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGR6p.S163F
Missense
SNP
0.137
3Gain-
LHFPL3-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX9p.R271Q
Missense
SNP
0.139
3Gain-
LIFR-
-
-
-
3Gain-
LILRA4p.P181S
Missense
SNP
0.387
2--
LILRB1p.D260N
Missense
SNP
0.124
2--
LIME1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIMS1p.P108S
Missense
SNP
0.208
2--
LIN28A-
-
-
-
3Gain-
LIN54-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
3Gain-
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
1Loss-
LINS1-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPFp.D159N
Missense
SNP
0.244
2--
LKAAEAR1-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LMAN1L-
-
-
-
3Gain-
LMAN2Lp.S279F
Missense
SNP
0.369
2--
LMBR1-
-
-
-
3Gain-
LMNAp.E203K
Missense
DNP
0.736
3Gain-
LMO7DNp.W9*
Nonsense
SNP
0.411
NDND-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LONP2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1p.D531N
Missense
SNP
0.175
2--
LOXL1-
-
-
-
3Gain-
LPCAT2-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH4-
-
-
-
3Gain-
LRFN5p.S394F
Missense
SNP
0.181
2--
LRGUK-
-
-
-
3Gain-
LRIT3-
-
-
-
1Loss-
LRP1p.L2656F
p.H4116Y
Missense
Missense
SNP
SNP
0.220
0.424
2--
LRP12-
-
-
-
3Gain-
LRP1Bp.W4001*
p.R2495Q
p.S1102F
Nonsense
Missense
Missense
SNP
SNP
SNP
0.236
0.347
0.168
2--
LRP2p.W4295*
p.R1206C
Nonsense
Missense
SNP
SNP
0.188
0.178
2--
LRRC14-
-
-
-
3Gain-
LRRC15p.N249T
Missense
SNP
0.182
2--
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC27-
-
-
-
1Loss-
LRRC28-
-
-
-
3Gain-
LRRC29-
-
-
-
1Loss-
LRRC30p.P87S
Missense
SNP
0.438
2--
LRRC31p.D294N
Missense
SNP
0.372
2--
LRRC36-
-
-
-
1Loss-
LRRC37A3p.S146L
Missense
SNP
0.459
2--
LRRC38-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC49-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC53p.D291N
Missense
SNP
0.602
2--
LRRC6-
-
-
-
3Gain-
LRRC61p.A78V
Missense
DNP
0.201
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRCC1p.G159E
Missense
SNP
0.195
3Gain-
LRRD1-
-
-
-
4Gain-
LRRIQ3p.S217L
Missense
SNP
0.202
2--
LRRIQ4p.T189I
Missense
SNP
0.360
2--
LRRK1-
-
-
-
3Gain-
LRRN1p.E128K
Missense
SNP
0.127
2--
LRRN2p.G658S
Missense
SNP
0.699
3Gain-
LRRN3-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSG1p.K450E
Missense
SNP
0.445
2--
LSM10-
-
-
-
3Gain-
LSM12p.P187L
Missense
SNP
0.573
2--
LSM14Ap.R42*
Nonsense
SNP
0.314
2--
LSM14B-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LTBP4p.P1491L
Missense
SNP
0.409
2--
LTKp.S789*
Nonsense
SNP
0.682
2--
LUC7L2-
-
-
-
3Gain-
LURAP1L-
-
-
-
1Loss-
LUZP1-
-
-
-
3Gain-
LUZP2p.M206I
Missense
SNP
0.237
2--
LUZP4p.G134E
Missense
SNP
0.574
NDND-
LUZP6-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY75p.E1402K
p.V474T
Missense
Missense
SNP
DNP
0.333
0.341
2--
LY9-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLA2-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD4-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LZIC-
-
-
-
3Gain-
LZTR1p.R630L
Missense
SNP
0.322
2--
MAB21L2-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACO1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
3Gain-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGp.A6T
Missense
SNP
0.226
2--
MAGEL2-
-
-
-
3Gain-
MAGI1p.E354K
Missense
SNP
0.401
2--
MAGI2-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MALRD1-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MAML1p.V111D
Missense
SNP
0.434
2--
MAN1C1-
-
-
-
3Gain-
MAN2A2-
-
-
-
3Gain-
MAN2B1p.A656V
p.T243I
Missense
Missense
DNP
SNP
0.371
0.175
2--
MAN2C1-
-
-
-
3Gain-
MANBA-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1Ap.A507V
Missense
SNP
0.717
2--
MAP1Bp.E1392K
Missense
SNP
0.230
2--
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP2K1-
-
-
-
3Gain-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5-
-
-
-
3Gain-
MAP3K1-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K5p.F897Y
Missense
SNP
0.504
2--
MAP3K6-
-
-
-
3Gain-
MAP3K8-
-
-
-
1Loss-
MAP4p.S749F
Missense
SNP
0.393
2--
MAP7D1p.P492L
Missense
SNP
0.305
3Gain-
MAP9-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK11p.G31D
Missense
SNP
0.242
2--
MAPK15-
-
-
-
3Gain-
MAPK3p.H327Q
Missense
SNP
0.179
2--
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH10p.S63F
Missense
SNP
0.433
2--
MARCH8-
-
-
-
1Loss-
MARCKSL1-
-
-
-
3Gain-
MARCOp.G403E
Missense
SNP
0.360
2--
MARK1-
-
-
-
3Gain-
MARVELD3-
-
-
-
1Loss-
MAS1L-
-
-
-
1Loss-
MASP2-
-
-
-
3Gain-
MASTL-
-
-
-
1Loss-
MATN1-
-
-
-
3Gain-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAZp.X147_splice
Splice_Site
SNP
0.346
2--
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MCF2p.P454S
Missense
SNP
0.350
NDND-
MCIDAS-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN3p.H232N
p.R231S
Missense
Missense
SNP
SNP
0.500
0.504
2--
MCTP2-
-
-
-
3Gain-
MCTS2P-
-
-
-
3Gain-
MCUB-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDGA1p.D903Y
Missense
SNP
0.297
2--
MDGA2p.R207*
Nonsense
SNP
0.488
2--
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
ME1p.R254C
Missense
SNP
0.520
2--
ME3p.Y243N
Missense
SNP
0.500
2--
MEAF6-
-
-
-
3Gain-
MECOMp.E722K
Missense
SNP
0.344
2--
MECR-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED12Lp.P2040S
Missense
SNP
0.308
2--
MED13p.P634L
Missense
SNP
0.231
2--
MED18-
-
-
-
3Gain-
MED27-
-
-
-
2-TRMT10B--MED27
MED30-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2A-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
MEGF10p.G426E
Missense
SNP
0.368
2--
MEGF11-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEIG1-
-
-
-
1Loss-
MELTFp.S268F
Missense
SNP
0.361
2--
MEOX1p.P97L
Missense
SNP
0.259
2--
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEPE-
-
-
-
1Loss-
MERTKp.F115L
Missense
SNP
0.103
2--
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL4p.P320S
Missense
SNP
0.135
2--
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MFAP2-
-
-
-
3Gain-
MFAP4-
-
-
-
1Loss-
MFAP5p.E133K
Missense
SNP
0.466
2--
MFGE8-
-
-
-
3Gain-
MFN2-
-
-
-
3Gain-
MFRPp.E544K
Missense
SNP
0.489
2--
MFSD3-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MGAMp.K134T
p.G294R
p.P1329S
p.P1514S
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.101
0.523
0.274
0.309
3Gain-
MGAM2p.S560F
p.E1092K
p.G1667R
Missense
Missense
Missense
SNP
SNP
SNP
0.122
0.238
0.258
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MIEF2-
-
-
-
1Loss-
MIER3-
-
-
-
3Gain-
MIIP-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
3Gain-
MINOS1-NBL1-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN3p.P64S
Missense
SNP
0.153
3Gain-
MKX-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMEL1-
-
-
-
3Gain-
MMP15-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMP2-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP24p.D318N
Missense
SNP
0.296
3Gain-
MMP9-
-
-
-
3Gain-
MMRN1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOB2p.P15L
Missense
SNP
0.257
2--
MOB3B-
-
-
-
1Loss-
MOCOSp.L328R
Missense
SNP
0.438
2--
MOCS1p.D340N
Missense
SNP
0.530
2--
MOCS2-
-
-
-
3Gain-
MOCS3-
-
-
-
3Gain-
MOG-
-
-
-
1Loss-
MOGAT3-
-
-
-
3Gain-
MOGSp.R535*
Nonsense
DNP
0.290
2--
MON1B-
-
-
-
1Loss-
MORC1p.K911I
p.E590K
p.N413Y
p.M250I
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.446
0.175
0.309
0.154
2--
MORF4L1-
-
-
-
3Gain-
MORN1-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOV10L1p.R440Q
Missense
SNP
0.116
2--
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPI-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRC1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2B-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MROH9p.L177V
p.G761E
Missense
Missense
SNP
SNP
0.286
0.211
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL13-
-
-
-
3Gain-
MRPL20-
-
-
-
3Gain-
MRPL24-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL46-
-
-
-
3Gain-
MRPL51p.P18L
Missense
SNP
0.214
2--
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
3Gain-
MRPS11-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS15-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS18B-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS24-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS30-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRTO4-
-
-
-
3Gain-
MRVI1p.A108T
Missense
SNP
0.197
2--
MS4A1p.M71I
Missense
SNP
0.242
2--
MS4A3p.G103E
Missense
SNP
0.120
2--
MSC-
-
-
-
3Gain-
MSMB-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF3p.S126L
Missense
SNP
0.176
3Gain-
MTFMT-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTFR1L-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFR-
-
-
-
3Gain-
MTHFS-
-
-
-
3Gain-
MTHFSD-
-
-
-
1Loss-
MTMR10-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR2p.S49F
Missense
SNP
0.419
2--
MTOR-
-
-
-
3Gain-
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MTTPp.P526L
Missense
SNP
0.667
1Loss-
MTURN-
-
-
-
3Gain-
MTUS2p.E466K
p.P543S
Missense
Missense
SNP
SNP
0.158
0.472
2--
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC12p.E274K
Missense
SNP
0.481
3Gain-
MUC16p.X13826_splice
p.E12105K
p.S11896F
p.P11354S
p.E11068K
p.H9807Y
p.P9741S
p.S9567F
p.P9259S
p.E7683K
p.V7653I
p.H7472Y
p.S7242F
p.E7091K
p.S6543L
p.P5623L
p.P5119S
p.G3608E
p.G3303E
p.E2974K
p.P2206S
p.I1047T
p.S744L
p.R100K
Splice_Site
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.339
0.295
0.370
0.169
0.220
0.155
0.202
0.348
0.255
0.412
0.175
0.168
0.285
0.229
0.429
0.360
0.175
0.195
0.453
0.403
0.373
0.348
0.387
0.345
2--
MUC17p.S1742L
p.G2336R
p.S3438L
p.S4104F
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.234
0.114
0.127
0.133
3Gain-
MUC21-
-
-
-
1Loss-
MUC22p.E624K
Missense
SNP
0.138
2--
MUC3Ap.C128W
Missense
SNP
0.221
3Gain-
MUC4p.G4543A
p.T3124I
Missense
Missense
SNP
SNP
0.343
0.139
2--
MUCL3-
-
-
-
1Loss-
MUL1-
-
-
-
3Gain-
MUTp.P234S
Missense
SNP
0.188
2--
MVD-
-
-
-
1Loss-
MVPp.R456C
Missense
DNP
0.390
2--
MX2p.P163S
Missense
SNP
0.216
2--
MXRA5p.N1735S
p.K793T
p.S454F
Missense
Missense
Missense
SNP
SNP
SNP
0.667
0.305
0.688
NDND-
MXRA8-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYBPC3p.G118E
Missense
SNP
0.500
2--
MYBPH-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYH1p.E1744Q
p.G1524E
p.R791Q
Missense
Missense
Missense
SNP
SNP
SNP
0.606
0.333
0.246
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH15p.E895D
Missense
SNP
0.405
2--
MYH2p.S1476F
Missense
SNP
0.259
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E1586K
p.E874K
p.E375K
Missense
Missense
Missense
SNP
SNP
SNP
0.291
0.289
0.559
1Loss-
MYH7p.E944K
Missense
SNP
0.476
1Loss-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYLK3-
-
-
-
1Loss-
MYO15Ap.H422Y
p.P506L
Missense
Missense
SNP
SNP
0.295
0.266
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1E-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO3Ap.R973W
Missense
SNP
0.589
1Loss-
MYO3Bp.G1090R
Missense
SNP
0.386
2--
MYO5Bp.E1255K
Missense
SNP
0.386
2--
MYO7Ap.M1644I
Missense
SNP
0.261
2--
MYO9A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCDp.S891F
Missense
SNP
0.249
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM2p.E751K
Missense
SNP
0.184
2--
MYOM3-
-
-
-
3Gain-
MYORG-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYSM1p.P558S
Missense
SNP
0.205
2--
MYT1-
-
-
-
3Gain-
MYT1Lp.E450K
Missense
SNP
0.393
2--
MYZAP-
-
-
-
3Gain-
N4BP1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NADK2-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEAL1p.P2477S
Missense
SNP
0.157
2--
NBL1-
-
-
-
3Gain-
NBN-
-
-
-
3Gain-
NBPF1-
-
-
-
3Gain-
NBPF12p.S681F
Missense
SNP
0.608
2--
NBPF3-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAPD3p.H690Y
Missense
SNP
0.493
2--
NCAPG2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCDN-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCMAP-
-
-
-
3Gain-
NCOA2p.R338C
Missense
SNP
0.273
3Gain-
NCOA3p.G1152E
Missense
SNP
0.146
3Gain-
NCOA4-
-
-
-
1Loss-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDC1p.R644Q
Missense
SNP
0.496
2--
NDEL1-
-
-
-
1Loss-
NDNp.P83S
Missense
SNP
0.140
3Gain-
NDNF-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDRG4-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFS1p.R166*
Nonsense
DNP
0.327
2--
NDUFS2p.X404_splice
Splice_Site
SNP
0.171
3Gain-
NDUFS4-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NECAB3-
-
-
-
3Gain-
NECAP2p.W42*
Nonsense
SNP
0.554
3Gain-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEIL1-
-
-
-
3Gain-
NEK2p.R190C
Missense
SNP
0.610
3Gain-
NEK4-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFCDp.L229F
Missense
DNP
0.265
3Gain-
NELL2p.G612D
Missense
SNP
0.547
2--
NEMP1p.S372F
Missense
SNP
0.153
2--
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEURL1p.H66Y
Missense
SNP
0.462
2--
NEURL2-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD4p.S295L
Missense
SNP
0.249
2--
NEUROD6-
-
-
-
3Gain-
NEUROG2-
-
-
-
1Loss-
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFATC3-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFKB1-
-
-
-
1Loss-
NFS1-
-
-
-
3Gain-
NFX1-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHLH1p.R55W
Missense
DNP
0.703
3Gain-
NHSL1p.S1578F
Missense
SNP
0.191
2--
NID1-
-
-
-
3Gain-
NID2p.G872S
Missense
SNP
0.258
2--
NIM1K-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIPAL3-
-
-
-
3Gain-
NIPBL-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPL-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKD2p.P54S
Missense
SNP
0.308
2--
NKX2-6p.G279E
Missense
SNP
0.222
2--
NKX3-2p.G233E
Missense
SNP
0.185
2--
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLGN4Xp.R669Q
Missense
SNP
0.341
NDND-
NLRC4p.D299N
Missense
SNP
0.176
2--
NLRC5-
-
-
-
1Loss-
NLRP1p.D639N
Missense
SNP
0.251
1Loss-
NLRP11p.H117Y
Missense
SNP
0.212
2--
NLRP13p.E1019K
Missense
SNP
0.308
2--
NLRP3-
-
-
-
3Gain-
NLRP4p.P243L
p.E482K
Missense
Missense
SNP
SNP
0.384
0.191
2--
NLRP5p.G903E
Missense
SNP
0.374
2--
NLRP8p.P11L
p.L389F
Missense
Missense
SNP
SNP
0.469
0.212
2--
NMB-
-
-
-
3Gain-
NME7p.I344V
Missense
SNP
0.107
3Gain-
NME8-
-
-
-
3Gain-
NMNAT1-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NNTp.S1044F
Missense
SNP
0.353
3Gain-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOC2L-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOD2-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL4p.E421K
Missense
SNP
0.245
2--
NOL4L-
-
-
-
3Gain-
NOL6-
-
-
-
1Loss-
NOL9-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP2p.A719V
p.S328F
Missense
Missense
SNP
SNP
0.416
0.183
2--
NOS1AP-
-
-
-
3Gain-
NOS2p.R740W
p.G64E
Missense
Missense
SNP
SNP
0.386
0.250
2--
NOS3p.D686N
p.C853G
Missense
Missense
SNP
SNP
0.139
0.122
3Gain-
NOV-
-
-
-
3Gain-
NOVA1p.G381E
Missense
SNP
0.183
2--
NOX5-
-
-
-
3Gain-
NPAP1p.G89D
p.P423L
Missense
Missense
SNP
SNP
0.268
0.175
3Gain-
NPBWR2-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPEPL1-
-
-
-
3Gain-
NPHP1p.D162A
Missense
SNP
0.414
2--
NPHP4p.P1157S
Missense
SNP
0.434
3Gain-
NPHS2p.M187I
Missense
SNP
0.148
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPNT-
-
-
-
1Loss-
NPPA-
-
-
-
3Gain-
NPPB-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPTXRp.X284_splice
Splice_Site
SNP
0.218
2--
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY1Rp.G158S
Missense
SNP
0.168
2--
NPY2Rp.D42N
Missense
SNP
0.259
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR0B2-
-
-
-
3Gain-
NR1I3-
-
-
-
3Gain-
NR2E3-
-
-
-
1Loss-
NR2F2-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRASp.E62Q
p.Q61R
Missense
Missense
SNP
SNP
0.574
0.546
2--
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG1p.G13D
Missense
SNP
0.488
2--
NRG4-
-
-
-
3Gain-
NRKp.E549T
Missense
DNP
0.359
NDND-
NRM-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRXN1p.E139K
Missense
SNP
0.377
2--
NRXN2p.P1604S
Missense
DNP
0.507
2--
NSL1-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSMCE3-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5M-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK3p.R116W
Missense
SNP
0.268
3Gain-
NTSR1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDC-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT2-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT9p.M295I
Missense
SNP
0.552
1Loss-
NUF2-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210Lp.R1559G
Missense
SNP
0.700
3Gain-
NUP54-
-
-
-
1Loss-
NUP62CLp.Y166C
Missense
SNP
0.236
NDND-
NUP88p.F69Y
Missense
SNP
0.201
1Loss-
NUP93-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUTF2-
-
-
-
1Loss-
NUTM1p.P77L
Missense
SNP
0.241
2--
NVL-
-
-
-
3Gain-
NWD2p.R42W
p.W1169*
Missense
Nonsense
SNP
SNP
0.208
0.194
2--
NXF5p.R320Q
Missense
SNP
0.362
NDND-
NXN-
-
-
-
1Loss-
NXPH1p.S228F
Missense
SNP
0.256
3Gain-
NXPH3p.G289R
Missense
SNP
0.246
2--
NYAP1-
-
-
-
3Gain-
OAZ2-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OC90-
-
-
-
3Gain-
OCA2-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODAMp.G102E
Missense
SNP
0.171
2--
ODAPH-
-
-
-
1Loss-
ODF1-
-
-
-
3Gain-
ODF3L1-
-
-
-
3Gain-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFML2Bp.G27E
Missense
SNP
0.129
3Gain-
ONECUT1-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPRD1-
-
-
-
3Gain-
OPRK1p.A308V
Missense
SNP
0.162
NDND-
OPRL1-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
1Loss-
OR10A3p.M136I
Missense
SNP
0.424
2--
OR10C1-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3p.S149L
Missense
SNP
0.166
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11A1-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR12D2-
-
-
-
1Loss-
OR12D3-
-
-
-
1Loss-
OR13A1-
-
-
-
1Loss-
OR13C3p.A335T
p.D24N
Missense
Missense
SNP
SNP
0.401
0.484
2--
OR13C5p.M185I
Missense
SNP
0.741
2--
OR13C7p.G235E
Missense
SNP
0.514
NDND-
OR13G1-
-
-
-
3Gain-
OR14A16p.S79F
Missense
SNP
0.303
3Gain-
OR14A2p.S104F
Missense
SNP
0.165
3Gain-
OR14C36p.G39R
p.G39E
Missense
Missense
SNP
SNP
0.116
0.160
3Gain-
OR14I1-
-
-
-
3Gain-
OR14J1p.S65F
Missense
SNP
0.470
1Loss-
OR14K1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1C1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2p.R50*
Nonsense
SNP
0.290
1Loss-
OR1F1p.G147R
Missense
SNP
0.401
2--
OR1G1-
-
-
-
1Loss-
OR1L4p.D71N
Missense
SNP
0.467
2--
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2B2-
-
-
-
1Loss-
OR2B3-
-
-
-
1Loss-
OR2B6p.C76*
Nonsense
DNP
0.235
1Loss-
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3p.L27F
Missense
SNP
0.724
3Gain-
OR2G6-
-
-
-
3Gain-
OR2H1-
-
-
-
1Loss-
OR2H2-
-
-
-
1Loss-
OR2J1-
-
-
-
1Loss-
OR2J2p.E197K
Missense
SNP
0.548
1Loss-
OR2J3-
-
-
-
1Loss-
OR2L13p.S92F
Missense
SNP
0.156
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W1-
-
-
-
1Loss-
OR2W3-
-
-
-
3Gain-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A15p.M31I
Missense
SNP
0.576
2--
OR4C12p.S74F
Missense
SNP
0.209
2--
OR4C15p.P337L
Missense
SNP
0.516
2--
OR4C16p.D266N
Missense
SNP
0.252
2--
OR4C6p.L84F
Missense
SNP
0.241
2--
OR4F15-
-
-
-
3Gain-
OR4F4-
-
-
-
3Gain-
OR4F5-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4K17p.G11D
Missense
SNP
0.234
2--
OR4L1p.W149*
Nonsense
SNP
0.213
2--
OR4M2-
-
-
-
3Gain-
OR4N2p.G41E
Missense
SNP
0.176
2--
OR4N4-
-
-
-
3Gain-
OR51A2p.P131L
Missense
SNP
0.913
2--
OR51B5p.P287S
Missense
SNP
0.473
2--
OR51F2p.R136C
Missense
SNP
0.423
2--
OR51T1p.L231F
Missense
SNP
0.449
2--
OR52J3p.G185S
Missense
SNP
0.290
2--
OR52N5p.M165I
Missense
SNP
0.708
2--
OR56A1p.L169F
Missense
SNP
0.513
2--
OR5B12p.L64F
Missense
SNP
0.199
2--
OR5B17p.E109K
Missense
SNP
0.211
2--
OR5H1p.L256F
Missense
SNP
0.128
2--
OR5H6p.S119F
Missense
SNP
0.371
2--
OR5J2p.S217F
Missense
SNP
0.142
2--
OR5V1-
-
-
-
1Loss-
OR6B1-
-
-
-
3Gain-
OR6F1p.S217F
Missense
SNP
0.677
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6p.C177R
Missense
SNP
0.162
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7A5p.S223F
Missense
SNP
0.405
2--
OR8B2p.S7F
Missense
SNP
0.161
2--
OR8S1p.S183F
Missense
SNP
0.396
2--
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL9p.G7R
Missense
SNP
0.568
2--
OSCP1-
-
-
-
3Gain-
OSER1p.P250L
Missense
SNP
0.317
3Gain-
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OSTC-
-
-
-
1Loss-
OTOFp.G524E
Missense
SNP
0.149
2--
OTOGLp.R1610K
Missense
SNP
0.500
2--
OTOL1p.M261I
Missense
SNP
0.157
2--
OTUD1-
-
-
-
1Loss-
OTUD3-
-
-
-
3Gain-
OTUD6B-
-
-
-
3Gain-
OTUD7Bp.G190E
Missense
SNP
0.653
2--
OVCA2-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXER1p.G289N
Missense
DNP
0.386
2--
OXR1-
-
-
-
3Gain-
OXSR1p.S367L
Missense
SNP
0.363
2--
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPC4Lp.P361L
Missense
SNP
0.342
2--
PABPC5p.F89S
Missense
SNP
0.302
NDND-
PABPN1-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACS2p.P550S
Missense
SNP
0.193
2--
PADI1-
-
-
-
3Gain-
PADI2-
-
-
-
3Gain-
PADI3-
-
-
-
3Gain-
PADI4-
-
-
-
3Gain-
PADI6p.E560K
Missense
SNP
0.277
3Gain-
PAFAH1B1-
-
-
-
1Loss-
PAFAH2-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PAIP1-
-
-
-
3Gain-
PAK1p.D332N
Missense
SNP
0.247
2--
PANK4-
-
-
-
3Gain-
PANX3p.G22R
Missense
SNP
0.238
2--
PAOX-
-
-
-
1Loss-
PAPOLAp.K689R
Missense
SNP
0.286
2--
PAPOLB-
-
-
-
3Gain-
PAPPA2p.H1546Y
Missense
SNP
0.108
3Gain-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR5-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
3Gain-
PAQR9p.Q338*
Nonsense
SNP
0.412
2--
PARD3-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARG-
-
-
-
1Loss-
PARK7-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP12p.P153L
Missense
DNP
0.192
3Gain-
PARP16-
-
-
-
3Gain-
PARP6-
-
-
-
3Gain-
PARP8-
-
-
-
3Gain-
PASKp.L675V
Missense
SNP
0.203
2--
PAX4-
-
-
-
3Gain-
PAX7-
-
-
-
3Gain-
PAX8p.P321L
Missense
SNP
0.345
2--
PAXIP1-
-
-
-
3Gain-
PBX1p.S278F
Missense
SNP
0.164
3Gain-
PBXIP1-
-
-
-
3Gain-
PCDH1p.S290F
Missense
SNP
0.413
2--
PCDH15p.S1902L
Missense
SNP
0.615
1Loss-
PCDH17p.E1137K
Missense
SNP
0.448
2--
PCDH19p.S809C
Missense
SNP
0.563
NDND-
PCDHA11p.D344N
Missense
SNP
0.212
2--
PCDHA2p.E301K
Missense
SNP
0.253
2--
PCDHA4p.R428Q
Missense
SNP
0.454
2--
PCDHA8p.D378N
Missense
SNP
0.229
2--
PCDHA9p.S619N
p.E902K
Missense
Missense
SNP
SNP
0.278
0.261
2--
PCDHB11p.R407K
Missense
SNP
0.258
2--
PCDHB13p.G526E
Missense
SNP
0.237
2--
PCDHB15p.D342N
Missense
SNP
0.186
2--
PCDHB16p.G224E
Missense
SNP
0.471
2--
PCDHB3p.D51N
p.H283Y
Missense
Missense
SNP
SNP
0.183
0.509
2--
PCDHB5p.E144K
Missense
SNP
0.245
2--
PCDHGA8p.Q647*
Nonsense
SNP
0.178
2--
PCDHGB1p.E307K
Missense
SNP
0.439
2--
PCDHGB4p.S137F
Missense
SNP
0.416
2--
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCLAF-
-
-
-
3Gain-
PCLOp.K2611R
p.K1289N
p.A967V
Missense
Missense
Missense
SNP
SNP
SNP
0.520
0.201
0.274
3Gain-
PCMTD2-
-
-
-
3Gain-
PCNX1p.R2139W
Missense
DNP
0.202
2--
PCNX2p.K1685E
p.A1428V
Missense
Missense
SNP
SNP
0.678
0.230
3Gain-
PCOLCE-
-
-
-
3Gain-
PCP2p.E9K
Missense
SNP
0.357
2--
PCP4L1-
-
-
-
3Gain-
PCSK6-
-
-
-
3Gain-
PCSK9p.E211K
Missense
SNP
0.260
2--
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDE1Cp.E594K
Missense
SNP
0.125
3Gain-
PDE3Ap.D1017N
Missense
SNP
0.234
2--
PDE4D-
-
-
-
3Gain-
PDE5A-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE7Bp.R86C
Missense
SNP
0.182
2--
PDE8A-
-
-
-
3Gain-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFBp.M93I
Missense
SNP
0.138
2--
PDHA2-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDIK1L-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM5-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDP2-
-
-
-
1Loss-
PDPN-
-
-
-
3Gain-
PDPR-
-
-
-
1Loss-
PDRG1-
-
-
-
3Gain-
PDSS1-
-
-
-
1Loss-
PDZD2p.D79N
p.P913L
Missense
Missense
SNP
SNP
0.384
0.321
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEG10-
-
-
-
4Gain-
PEG3p.R963C
Missense
SNP
0.231
2--
PELI3p.P170F
Missense
DNP
0.213
2--
PELO-
-
-
-
3Gain-
PELP1p.A678V
Missense
SNP
0.297
1Loss-
PEMT-
-
-
-
1Loss-
PENKp.E162K
Missense
SNP
0.162
NDND-
PER1-
-
-
-
1Loss-
PER3p.D1208N
Missense
SNP
0.457
3Gain-
PERM1-
-
-
-
3Gain-
PEX1-
-
-
-
4Gain-
PEX10-
-
-
-
3Gain-
PEX11A-
-
-
-
3Gain-
PEX14-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX5Lp.D281N
Missense
SNP
0.182
2--
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGBD1-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGD-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGPEP1L-
-
-
-
3Gain-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
3Gain-
PHC2-
-
-
-
3Gain-
PHF13-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21Bp.Q297*
Nonsense
SNP
0.168
2--
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHIPp.P808L
p.L590S
Missense
Missense
DNP
SNP
0.469
0.471
2--
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHLPP2-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PIAS1-
-
-
-
3Gain-
PIEZO1-
-
-
-
1Loss-
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGLp.C177G
Missense
SNP
0.391
1Loss-
PIGM-
-
-
-
3Gain-
PIGO-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGV-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIK3C2Ap.P748S
Missense
SNP
0.178
2--
PIK3C2B-
-
-
-
3Gain-
PIK3C2Gp.R378*
Nonsense
SNP
0.495
2--
PIK3CD-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIMREG-
-
-
-
1Loss-
PINK1-
-
-
-
3Gain-
PINLYPp.S106F
Missense
SNP
0.247
2--
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITHD1-
-
-
-
3Gain-
PITPNA-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKDREJp.S1334F
Missense
SNP
0.217
3Gain-
PKHD1L1p.Q763*
p.S2910L
p.V3182I
Nonsense
Missense
Missense
SNP
SNP
SNP
0.327
0.156
0.342
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PKP3p.R253Q
Missense
SNP
0.276
2--
PLA2G12A-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G2A-
-
-
-
3Gain-
PLA2G2C-
-
-
-
3Gain-
PLA2G2D-
-
-
-
3Gain-
PLA2G2E-
-
-
-
3Gain-
PLA2G2F-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G5-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLBD2p.P203S
Missense
SNP
0.238
2--
PLCB1p.E1130K
Missense
SNP
0.328
2--
PLCB4p.G876E
Missense
SNP
0.350
2--
PLCG1-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLCH2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLCZ1p.E538K
p.G302E
p.S167L
p.S81F
p.G17E
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.210
0.447
0.290
0.495
0.207
2--
PLD2-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHD1p.W139*
p.L250H
Nonsense
Missense
SNP
SNP
0.195
0.243
2--
PLEKHF2-
-
-
-
3Gain-
PLEKHG2p.P447L
Missense
SNP
0.166
2--
PLEKHG4-
-
-
-
1Loss-
PLEKHG5-
-
-
-
3Gain-
PLEKHG7p.E29K
Missense
SNP
0.255
2--
PLEKHH2p.R16Q
Missense
SNP
0.183
2--
PLEKHM2-
-
-
-
3Gain-
PLEKHN1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLGp.S632F
Missense
SNP
0.484
2--
PLGRKT-
-
-
-
1Loss-
PLIN1-
-
-
-
3Gain-
PLIN2-
-
-
-
1Loss-
PLK2-
-
-
-
3Gain-
PLLP-
-
-
-
1Loss-
PLOD1-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPP1-
-
-
-
3Gain-
PLPP6-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PLXNB3p.E1321K
Missense
SNP
0.658
NDND-
PM20D1-
-
-
-
3Gain-
PMEPA1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMLp.V657M
Missense
DNP
0.480
3Gain-
PMP2-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNLIPp.P225H
Missense
SNP
0.212
2--
PNMAL2p.E81K
Missense
SNP
0.139
NDND-
PNPLA2p.P497L
Missense
SNP
0.423
2--
PNPLA8-
-
-
-
3Gain-
PNRC2-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POFUT1p.S357F
Missense
SNP
0.148
3Gain-
POGK-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLG-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLNp.S771F
p.P279L
Missense
Missense
DNP
SNP
0.345
0.308
2--
POLR1Ep.R272C
Missense
DNP
0.609
NDND-
POLR2Ap.G424S
Missense
SNP
0.249
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2Kp.R51K
Missense
SNP
0.368
3Gain-
POLR2M-
-
-
-
3Gain-
POLR3Ep.S93F
Missense
SNP
0.211
2--
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2p.G682R
Missense
SNP
0.227
1Loss-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
3Gain-
PPCDC-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPICp.E68K
Missense
SNP
0.411
2--
PPM1K-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R10-
-
-
-
1Loss-
PPP1R11-
-
-
-
1Loss-
PPP1R12B-
-
-
-
3Gain-
PPP1R13Lp.P371L
Missense
SNP
0.214
2--
PPP1R15B-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R18-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3D-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R8-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PQLC2-
-
-
-
3Gain-
PRAMEp.P171L
Missense
SNP
0.249
2--
PRAMEF1-
-
-
-
3Gain-
PRAMEF12-
-
-
-
3Gain-
PRAMEF14p.E250K
Missense
SNP
0.343
NDND-
PRAMEF18-
-
-
-
3Gain-
PRAMEF19-
-
-
-
3Gain-
PRAMEF2-
-
-
-
3Gain-
PRAMEF20-
-
-
-
3Gain-
PRAP1-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRDM14p.R430K
Missense
SNP
0.234
3Gain-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
3Gain-
PRDM5-
-
-
-
1Loss-
PRDM6p.S524F
Missense
SNP
0.437
2--
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELID3B-
-
-
-
3Gain-
PRELPp.E76K
Missense
SNP
0.116
3Gain-
PREX1-
-
-
-
3Gain-
PREX2p.D1049N
Missense
SNP
0.318
3Gain-
PRG4-
-
-
-
3Gain-
PRKAA1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCBp.D484N
Missense
SNP
0.193
2--
PRKCGp.G358R
Missense
SNP
0.165
2--
PRKCQ-
-
-
-
1Loss-
PRKCZ-
-
-
-
3Gain-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRIP1-
-
-
-
3Gain-
PRMT7-
-
-
-
1Loss-
PROCR-
-
-
-
3Gain-
PROSER2-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PRPF18-
-
-
-
1Loss-
PRPF6p.L930F
Missense
SNP
0.276
3Gain-
PRPF8-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR23Ap.E81K
Missense
SNP
0.141
2--
PRR26-
-
-
-
1Loss-
PRR3-
-
-
-
1Loss-
PRR30p.P189F
Missense
DNP
0.397
2--
PRR7p.P225L
Missense
SNP
0.342
2--
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS16-
-
-
-
1Loss-
PRSS2-
-
-
-
3Gain-
PRSS3-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS58p.I208V
Missense
SNP
0.509
3Gain-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PRUNE2p.G605E
Missense
SNP
0.721
2--
PRXL2B-
-
-
-
3Gain-
PSCA-
-
-
-
3Gain-
PSD4p.S99F
Missense
SNP
0.383
2--
PSEN2-
-
-
-
3Gain-
PSG8p.S340L
p.G317D
Missense
Missense
SNP
SNP
0.439
0.465
2--
PSG9p.L52F
Missense
SNP
0.381
2--
PSIP1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA4-
-
-
-
3Gain-
PSMA7-
-
-
-
3Gain-
PSMB10-
-
-
-
1Loss-
PSMB2-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB8p.R216W
Missense
SNP
0.528
2--
PSMC2p.R144I
Missense
SNP
0.273
3Gain-
PSMD7-
-
-
-
1Loss-
PSME4p.R625C
Missense
SNP
0.383
2--
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PTAFR-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTCHD3-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDRp.R310Q
Missense
SNP
0.202
2--
PTGER4-
-
-
-
3Gain-
PTGIS-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTP4A2-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN12p.S649F
Missense
SNP
0.527
3Gain-
PTPN13p.S1754L
Missense
SNP
0.328
1Loss-
PTPN14p.V342I
Missense
SNP
0.169
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPN9-
-
-
-
3Gain-
PTPRBp.E1444K
Missense
SNP
0.169
2--
PTPRC-
-
-
-
3Gain-
PTPRDp.P846S
Missense
SNP
0.469
1Loss-
PTPRGp.A283V
Missense
SNP
0.333
2--
PTPRJp.L947R
Missense
SNP
0.229
2--
PTPRNp.D701N
Missense
SNP
0.438
2--
PTPRN2-
-
-
-
3Gain-
PTPROp.P873L
Missense
SNP
0.466
2--
PTPRTp.S1368F
p.P489S
p.W306*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.164
0.121
0.274
3Gain-
PTPRU-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PUM1-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PUSL1-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWWP2B-
-
-
-
1Loss-
PXDNLp.E685K
p.G248E
Missense
Missense
SNP
SNP
0.333
0.172
NDND-
PXMP4-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGBp.L145F
Missense
SNP
0.359
2--
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
R3HCC1p.A419V
Missense
SNP
0.198
2--
R3HDML-
-
-
-
3Gain-
RAB11A-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB18-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB22A-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB3C-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB42-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB5IF-
-
-
-
3Gain-
RAB6Ap.R84C
Missense
SNP
0.188
2--
RAB8B-
-
-
-
3Gain-
RABEP1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2p.L67F
Missense
SNP
0.152
2--
RACK1-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALYp.X220_splice
Splice_Site
SNP
0.175
3Gain-
RALYL-
-
-
-
3Gain-
RAMAC-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP-
-
-
-
3Gain-
RAP1GAP2p.G233R
Missense
SNP
0.345
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAPGEF2p.P1273S
Missense
SNP
0.156
2--
RAPGEF3p.D19N
Missense
SNP
0.138
2--
RAPGEF5-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRF1-
-
-
-
3Gain-
RASGRF2p.D551N
Missense
SNP
0.279
2--
RASL12-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5p.G415D
Missense
SNP
0.191
3Gain-
RASSF6p.Y64*
Nonsense
SNP
0.321
2--
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8NLp.G180R
Missense
SNP
0.193
3Gain-
RBFOX1p.S209N
Missense
SNP
0.378
2--
RBL1-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM17-
-
-
-
1Loss-
RBM20p.E1020K
Missense
SNP
0.508
2--
RBM26p.P227S
Missense
SNP
0.224
2--
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM46-
-
-
-
1Loss-
RBM48-
-
-
-
4Gain-
RBMXL3p.G308R
Missense
SNP
0.635
NDND-
RBP1p.D2N
Missense
SNP
0.161
2--
RBP3-
-
-
-
1Loss-
RBP7-
-
-
-
3Gain-
RBPJLp.P468S
Missense
SNP
0.133
3Gain-
RBPMS2-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RC3H2p.P838L
Missense
SNP
0.461
2--
RCAN3-
-
-
-
3Gain-
RCBTB2p.N478S
Missense
SNP
0.210
2--
RCC1-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCC2-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN2-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RDH10-
-
-
-
3Gain-
RDH5p.E219D
Missense
SNP
0.252
2--
REC114-
-
-
-
3Gain-
RECQL4-
-
-
-
3Gain-
REG1Bp.D95N
Missense
SNP
0.391
2--
RELNp.E3142K
p.E2973K
Missense
Missense
SNP
SNP
0.536
0.551
3Gain-
REM1p.R203P
Missense
SNP
0.253
3Gain-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RER1-
-
-
-
3Gain-
REREp.S1366F
Missense
SNP
0.251
3Gain-
RET-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFPL2p.S326F
Missense
SNP
0.639
2--
RFPL3p.G16E
Missense
SNP
0.410
2--
RFT1p.E486G
Missense
SNP
0.357
2--
RFWD3-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX7-
-
-
-
3Gain-
RFXANKp.P44S
Missense
SNP
0.117
2--
RGAG1p.R503K
Missense
SNP
0.619
NDND-
RGL1-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6p.R47K
Missense
SNP
0.251
2--
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHAGp.E161K
Missense
SNP
0.189
2--
RHBDD2p.S32Y
Missense
SNP
0.115
3Gain-
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
3Gain-
RHCG-
-
-
-
3Gain-
RHD-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOp.G121S
Missense
SNP
0.341
2--
RHODp.W111*
Nonsense
SNP
0.234
2--
RHOU-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL2p.R206*
Nonsense
SNP
0.173
2--
RIMS2p.L584I
Missense
SNP
0.167
3Gain-
RIMS4-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
1Loss-
RIPOR3-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RLBP1-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDSERPINE1--RNA5-8SN2
RNASEH1p.V79D
Missense
SNP
0.372
2--
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNF103p.F420L
Missense
SNP
0.387
2--
RNF111-
-
-
-
3Gain-
RNF112-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17p.A226T
Missense
SNP
0.198
2--
RNF175-
-
-
-
1Loss-
RNF186-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF19B-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF227-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF38p.P340L
Missense
SNP
0.597
NDND-
RNF39-
-
-
-
1Loss-
RNGTTp.R330C
Missense
SNP
0.275
2--
RNPEP-
-
-
-
3Gain-
ROBO2p.R1151*
Nonsense
SNP
0.196
2--
ROCK1-
-
-
-
5Amp-
ROMO1-
-
-
-
3Gain-
RORA-
-
-
-
3Gain-
ROS1p.G1392R
Missense
SNP
0.429
2--
RP11-385D13.1p.Q470*
Nonsense
SNP
0.505
NDND-
RP5-862P8.2p.E1031K
Missense
SNP
0.427
NDND-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL11-
-
-
-
3Gain-
RPL13-
-
-
-
1Loss-
RPL22-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL34-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL4-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPLP1-
-
-
-
3Gain-
RPN2-
-
-
-
3Gain-
RPP21-
-
-
-
1Loss-
RPP25-
-
-
-
3Gain-
RPP25L-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPS17-
-
-
-
3Gain-
RPS21-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA1-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPTORp.L10F
Missense
SNP
0.293
2--
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRM2B-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSC1A1-
-
-
-
3Gain-
RSL24D1-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPO1-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSPRY1-
-
-
-
1Loss-
RSRP1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTEL1p.R1223I
Missense
SNP
0.206
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1p.S596L
p.R88Q
Missense
Missense
SNP
SNP
0.272
0.132
3Gain-
RUNX2p.E226K
Missense
SNP
0.479
2--
RUNX3-
-
-
-
3Gain-
RUSC1-
-
-
-
3Gain-
RUSC2p.S463F
Missense
SNP
0.343
NDND-
RXFP2p.G95E
Missense
SNP
0.219
2--
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2p.D458N
p.E3002K
Missense
Missense
SNP
SNP
0.166
0.234
3Gain-
S100A1-
-
-
-
3Gain-
S100A11p.S16V
Missense
DNP
0.170
2--
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100PBP-
-
-
-
3Gain-
SACSp.S3289L
Missense
SNP
0.185
2--
SAFB2p.R755C
Missense
SNP
0.337
2--
SALL1-
-
-
-
1Loss-
SALL3p.P95L
p.G651E
p.S1117L
Missense
Missense
Missense
SNP
DNP
SNP
0.439
0.247
0.231
2--
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
3Gain-
SAMD12p.P12L
Missense
SNP
0.357
3Gain-
SAMD4Ap.P631L
Missense
SNP
0.233
2--
SAMD9-
-
-
-
4Gain-
SAMD9L-
-
-
-
4Gain-
SAMHD1p.X209_splice
Splice_Site
SNP
0.268
3Gain-
SAP130p.P95L
Missense
SNP
0.198
2--
SAP18-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SASH1p.S90F
Missense
SNP
0.293
2--
SAT2-
-
-
-
1Loss-
SATL1p.I261V
Missense
SNP
0.600
NDND-
SAXO1-
-
-
-
1Loss-
SAXO2-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBSNp.E508K
Missense
SNP
0.215
2--
SBSPONp.E79K
Missense
SNP
0.263
3Gain-
SCAMP2-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
3Gain-
SCAND1-
-
-
-
3Gain-
SCAPER-
-
-
-
3Gain-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCFD1p.P587L
Missense
SNP
0.239
2--
SCG3p.E192A
Missense
SNP
0.233
2--
SCGB1C2-
-
-
-
1Loss-
SCGN-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCN10Ap.E859K
Missense
SNP
0.115
2--
SCN2Ap.G882E
Missense
SNP
0.385
2--
SCN2Bp.T15M
Missense
SNP
0.587
2--
SCN4Ap.D511N
Missense
DNP
0.443
2--
SCN5Ap.D498N
Missense
SNP
0.315
2--
SCNN1Bp.R200K
Missense
SNP
0.408
2--
SCNN1D-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCRIBp.G907S
p.A516V
Missense
Missense
SNP
SNP
0.111
0.357
3Gain-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC2-
-
-
-
3Gain-
SDC3-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF4-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHB-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDK1p.M194I
p.G957E
Missense
Missense
SNP
SNP
0.239
0.441
3Gain-
SDR42E1-
-
-
-
1Loss-
SDSp.D137A
Missense
SNP
0.495
2--
SEC11A-
-
-
-
3Gain-
SEC14L3p.I68S
Missense
SNP
0.183
2--
SEC16Bp.D969N
p.P966L
Missense
Missense
SNP
SNP
0.668
0.683
3Gain-
SEC23Bp.Q145*
Nonsense
SNP
0.172
2--
SEC24B-
-
-
-
1Loss-
SEC24Dp.P64S
Missense
SNP
0.523
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SEL1L3p.M610I
Missense
SNP
0.343
2--
SELE-
-
-
-
3Gain-
SELENON-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SELENOS-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELOp.S222F
Missense
SNP
0.172
NDND-
SELP-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA5Bp.R458C
Missense
SNP
0.388
2--
SEMA7A-
-
-
-
3Gain-
SEMG1p.D416N
Missense
SNP
0.131
3Gain-
SEMG2p.T236I
Missense
SNP
0.273
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERINC2-
-
-
-
3Gain-
SERINC3-
-
-
-
3Gain-
SERINC4p.X153_splice
Splice_Site
SNP
0.201
2--
SERPINB7p.G341E
Missense
SNP
0.347
2--
SERPINC1-
-
-
-
3Gain-
SERPINE1-
-
-
-
3GainSERPINE1--RNA5-8SN2
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTAD4-
-
-
-
3Gain-
SESN1p.P295S
Missense
SNP
0.277
2--
SESN2-
-
-
-
3Gain-
SETBP1p.P31S
Missense
SNP
0.439
2--
SETD1Ap.S1169F
Missense
SNP
0.174
2--
SETD6-
-
-
-
1Loss-
SETD9-
-
-
-
3Gain-
SEZ6p.G19E
Missense
SNP
0.206
2--
SEZ6Lp.A605V
p.D796N
Missense
Missense
SNP
SNP
0.162
0.171
2--
SF3B3-
-
-
-
1Loss-
SFI1p.Q402*
Nonsense
SNP
0.349
2--
SFMBT2-
-
-
-
1Loss-
SFN-
-
-
-
3Gain-
SFPQ-
-
-
-
3Gain-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFTA2-
-
-
-
1Loss-
SGCE-
-
-
-
4Gain-
SGF29p.N37T
Missense
SNP
0.329
2--
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGSM1p.S512L
Missense
SNP
0.150
2--
SGSM2-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D5-
-
-
-
3Gain-
SH2D7-
-
-
-
3Gain-
SH3BGRL3-
-
-
-
3Gain-
SH3BP4p.S355F
Missense
SNP
0.205
2--
SH3BP5L-
-
-
-
3Gain-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
3Gain-
SH3GL2-
-
-
-
1Loss-
SH3GL3-
-
-
-
3Gain-
SH3RF2p.R263C
p.T724I
Missense
Missense
SNP
SNP
0.278
0.258
2--
SHANK3p.D340N
p.S944F
Missense
Missense
SNP
DNP
0.306
0.413
2--
SHARPIN-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHCBP1-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA5p.E70K
Missense
SNP
0.199
2--
SHISA6-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPKp.P303S
Missense
SNP
0.465
1Loss-
SHROOM3-
-
-
-
1Loss-
SIp.D1028N
p.D833N
Missense
Missense
SNP
SNP
0.228
0.198
2--
SIAH1-
-
-
-
1Loss-
SIGLEC7p.G177E
Missense
SNP
0.191
2--
SIGMAR1-
-
-
-
1Loss-
SIK3p.S978L
Missense
SNP
0.415
2--
SIN3A-
-
-
-
3Gain-
SIPA1L2p.Y653S
Missense
SNP
0.103
3Gain-
SKA3-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKIV2Lp.K1004I
Missense
DNP
0.220
2--
SKOR1-
-
-
-
3Gain-
SKP2-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8p.A14T
Missense
SNP
0.682
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC10A6-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A8p.S232F
Missense
SNP
0.154
2--
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC15A2p.R492C
Missense
SNP
0.359
2--
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14p.S302L
Missense
SNP
0.184
2--
SLC16A9-
-
-
-
1Loss-
SLC17A1-
-
-
-
1Loss-
SLC17A2-
-
-
-
1Loss-
SLC17A3-
-
-
-
1Loss-
SLC17A4-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC18A1p.P300S
Missense
SNP
0.425
2--
SLC18A2p.D460N
Missense
SNP
0.158
2--
SLC18A3-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A3-
-
-
-
3Gain-
SLC1A7p.P44L
Missense
SNP
0.381
2--
SLC22A17-
-
-
-
1Loss-
SLC22A25p.E458K
Missense
SNP
0.172
2--
SLC22A31-
-
-
-
1Loss-
SLC23A1p.E504K
Missense
SNP
0.379
2--
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
1Loss-
SLC24A3p.D177N
Missense
SNP
0.208
2--
SLC24A4p.F612Y
Missense
SNP
0.246
2--
SLC25A11-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A23p.L226F
Missense
SNP
0.375
2--
SLC25A32-
-
-
-
3Gain-
SLC25A33-
-
-
-
3Gain-
SLC25A34-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC25A44-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7p.S270L
Missense
SNP
0.357
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A1p.E525K
Missense
SNP
0.199
2--
SLC27A3-
-
-
-
3Gain-
SLC27A6p.G378E
Missense
SNP
0.233
2--
SLC28A1-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A10p.T21I
Missense
SNP
0.277
3Gain-
SLC2A11p.L224F
Missense
DNP
0.351
2--
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A2-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
3Gain-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A4p.R104K
Missense
SNP
0.457
2--
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A8-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC44A3p.P169S
Missense
SNP
0.503
2--
SLC45A1-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC4A2-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC52A3p.S228F
Missense
SNP
0.150
2--
SLC5A10-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A3p.S7F
Missense
SNP
0.369
2--
SLC6A9p.L658F
Missense
SNP
0.323
2--
SLC7A13p.L369I
Missense
SNP
0.387
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8A3p.M316I
p.P242S
p.E103K
Missense
Missense
Missense
SNP
SNP
SNP
0.230
0.231
0.419
2--
SLC9A1-
-
-
-
3Gain-
SLC9A5-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C2p.D145H
Missense
SNP
0.121
3Gain-
SLCO1C1p.G91V
Missense
SNP
0.495
2--
SLCO2A1p.D600N
Missense
SNP
0.131
2--
SLCO2B1p.S159F
Missense
SNP
0.241
2--
SLCO3A1-
-
-
-
3Gain-
SLCO4A1p.Y515D
Missense
SNP
0.156
3Gain-
SLCO5A1p.G257E
Missense
SNP
0.150
3Gain-
SLFN13p.T156I
Missense
SNP
0.212
2--
SLFN14p.G241R
Missense
DNP
0.390
2--
SLITRK4p.S83L
Missense
SNP
0.333
NDND-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD3-
-
-
-
3Gain-
SMAD6-
-
-
-
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMC1Bp.E787K
Missense
SNP
0.451
3Gain-
SMCR8-
-
-
-
1Loss-
SMG1P1-
-
-
-
NDNDBOLA2B--SMG1P1
SMG5-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMG7-
-
-
-
3Gain-
SMIM1-
-
-
-
3Gain-
SMIM12-
-
-
-
3Gain-
SMIM27-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMPD3-
-
-
-
1Loss-
SMPDL3B-
-
-
-
3Gain-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPC5-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNCAIPp.G242E
p.D664N
Missense
Missense
SNP
SNP
0.218
0.483
2--
SND1-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNIP1-
-
-
-
3Gain-
SNRNP40-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNRPN-
-
-
-
3Gain-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNTG1p.E468K
Missense
SNP
0.129
NDND-
SNUPN-
-
-
-
3Gain-
SNURF-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX18-
-
-
-
3Gain-
SNX20-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX33-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOGA1-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOWAHBp.E597K
Missense
SNP
0.627
1Loss-
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX18-
-
-
-
3Gain-
SP140p.E101K
p.G599R
Missense
Missense
SNP
SNP
0.175
0.221
2--
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG16p.P488S
Missense
SNP
0.414
2--
SPAG4-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARCL1-
-
-
-
1Loss-
SPATA13p.G1195E
Missense
SNP
0.305
2--
SPATA17-
-
-
-
3Gain-
SPATA2-
-
-
-
3Gain-
SPATA21-
-
-
-
3Gain-
SPATA22-
-
-
-
1Loss-
SPATA24p.P146S
Missense
SNP
0.448
2--
SPATA25-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA5-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA8-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPDYCp.P288S
Missense
SNP
0.189
2--
SPDYE3-
-
-
-
3Gain-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEF2p.L297F
Missense
SNP
0.419
2--
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
3Gain-
SPERTp.S96F
p.E396K
Missense
Missense
SNP
SNP
0.218
0.180
2--
SPESP1-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHKAPp.C1122Y
Missense
SNP
0.438
2--
SPINK4-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPNS2p.D362N
Missense
SNP
0.248
1Loss-
SPNS3p.G275R
Missense
SNP
0.405
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1p.P261L
Missense
SNP
0.386
3Gain-
SPP1-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRR4p.S2F
Missense
SNP
0.144
2--
SPRTN-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPSB1-
-
-
-
3Gain-
SPSB2p.R220K
Missense
SNP
0.465
2--
SPTA1p.L1745F
Missense
SNP
0.115
3Gain-
SPTBN4p.R151W
Missense
SNP
0.321
2--
SQLE-
-
-
-
3Gain-
SRARP-
-
-
-
3Gain-
SRC-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRM-
-
-
-
3Gain-
SRMS-
-
-
-
3Gain-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRRM1-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF10-
-
-
-
3Gain-
SRSF4-
-
-
-
3Gain-
SRSF6-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSH1p.S648F
p.N297K
Missense
Missense
SNP
SNP
0.203
0.387
2--
SSMEM1-
-
-
-
3Gain-
SSPOp.P1223S
p.E1979K
Missense
Missense
DNP
SNP
0.293
0.326
3Gain-
SSR2-
-
-
-
3Gain-
SSTR2p.M161I
Missense
SNP
0.280
2--
SSTR3p.G96R
Missense
SNP
0.428
2--
SSU72-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL2-
-
-
-
1Loss-
ST6GAL2p.G161E
Missense
SNP
0.174
2--
ST7-
-
-
-
3Gain-
ST8SIA2-
-
-
-
3Gain-
ST8SIA6-
-
-
-
1Loss-
STAB2p.R644Q
Missense
SNP
0.232
2--
STAG3-
-
-
-
3Gain-
STAM-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD5-
-
-
-
3Gain-
STAU1p.S101F
Missense
SNP
0.320
3Gain-
STAU2-
-
-
-
3Gain-
STBD1-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK32C-
-
-
-
1Loss-
STK4p.X435_splice
Splice_Site
DNP
0.286
3Gain-
STK40-
-
-
-
3Gain-
STMN1-
-
-
-
3Gain-
STMN2p.E10K
Missense
SNP
0.172
3Gain-
STMN3-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STOML1-
-
-
-
3Gain-
STOML2-
-
-
-
1Loss-
STON1p.Q537*
Nonsense
SNP
0.356
2--
STON2p.V655A
Missense
SNP
0.212
2--
STPG1-
-
-
-
3Gain-
STPG2-
-
-
-
1Loss-
STRA6p.L101F
Missense
SNP
0.326
3Gain-
STRA8-
-
-
-
3Gain-
STRC-
-
-
-
0Del-
STRIP2-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX12-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP2p.P513L
Missense
SNP
0.333
2--
STXBP5Lp.S725F
Missense
SNP
0.202
2--
STYK1p.D217N
Missense
SNP
0.516
2--
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLA2p.S186L
Missense
SNP
0.195
2--
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SULF1p.S242F
p.R595G
Missense
Missense
SNP
SNP
0.157
0.346
3Gain-
SULF2-
-
-
-
3Gain-
SULT1B1-
-
-
-
1Loss-
SULT1C2p.S102F
Missense
SNP
0.156
2--
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
3Gain-
SUPT6Hp.R265C
Missense
DNP
0.271
2--
SUSD4-
-
-
-
3Gain-
SUV39H2-
-
-
-
1Loss-
SV2Ap.C549F
Missense
SNP
0.100
2--
SV2B-
-
-
-
3Gain-
SVEP1p.S2835T
Missense
SNP
0.735
2--
SVIL-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWT1p.S480R
Missense
SNP
0.127
3Gain-
SYBU-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYF2-
-
-
-
3Gain-
SYNC-
-
-
-
3Gain-
SYNDIG1Lp.E65K
Missense
SNP
0.275
2--
SYNE1p.R6817Q
p.H4819Y
p.W2530*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.448
0.219
0.298
2--
SYNM-
-
-
-
3Gain-
SYNPO2-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT2-
-
-
-
3Gain-
SYTL1-
-
-
-
3Gain-
SZRD1-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TACR3p.K332N
Missense
SNP
0.696
1Loss-
TADA1-
-
-
-
3Gain-
TAF12-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAF4-
-
-
-
3Gain-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TANC2p.L1085F
Missense
SNP
0.163
2--
TANGO6-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARDBP-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARSL2-
-
-
-
3Gain-
TAS1R1-
-
-
-
3Gain-
TAS1R2-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R16p.Q5*
Nonsense
SNP
0.508
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN1-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D21-
-
-
-
3Gain-
TBC1D22A-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D2B-
-
-
-
3Gain-
TBC1D31-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCK-
-
-
-
1Loss-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX10p.N79Y
Missense
SNP
0.234
2--
TBX19-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
3Gain-
TCEAL2p.R110K
Missense
SNP
0.314
NDND-
TCF12-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF25p.D301N
Missense
DNP
0.504
1Loss-
TCFL5-
-
-
-
3Gain-
TCHHL1p.E556K
Missense
SNP
0.441
2--
TDP2-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD12p.Q3*
Nonsense
SNP
0.199
2--
TDRD5p.W541G
Missense
SNP
0.645
3Gain-
TEAD2p.L164F
Missense
SNP
0.298
2--
TECPR1-
-
-
-
3Gain-
TECTAp.P1764S
Missense
SNP
0.230
2--
TEDDM1-
-
-
-
3Gain-
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
3Gain-
TEKT3-
-
-
-
1Loss-
TENM1p.G2679E
Missense
SNP
0.299
NDND-
TENM4p.R1717Q
Missense
SNP
0.213
2--
TENT4B-
-
-
-
1Loss-
TENT5B-
-
-
-
3Gain-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TET2-
-
-
-
1Loss-
TET3p.S985F
Missense
SNP
0.368
2--
TEX13Ap.D253N
Missense
SNP
0.686
NDND-
TEX26p.L13F
Missense
SNP
0.176
2--
TEX33p.E104K
Missense
SNP
0.375
2--
TEX35-
-
-
-
3Gain-
TEX46-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX9-
-
-
-
3Gain-
TFAM-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFAP2E-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TFCP2p.R98Q
Missense
SNP
0.195
2--
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
4Gain-
TFR2p.E36K
Missense
SNP
0.369
3Gain-
TG-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM2-
-
-
-
3Gain-
TGM3p.Y313*
Nonsense
SNP
0.414
2--
THAP10-
-
-
-
3Gain-
THAP11-
-
-
-
1Loss-
THAP3-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4p.D535N
Missense
SNP
0.491
2--
THEM5p.E97K
Missense
SNP
0.697
2--
THEM6-
-
-
-
3Gain-
THEMIS2-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THOC2p.S827L
Missense
SNP
0.663
NDND-
THRAP3-
-
-
-
3Gain-
THSD4-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THSD7Bp.R544Q
Missense
SNP
0.350
2--
THTPA-
-
-
-
1Loss-
TICRRp.R913*
Nonsense
SNP
0.181
3Gain-
TIFA-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3p.E456K
Missense
SNP
0.385
2--
TIGD4-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIMD4p.E372K
Missense
SNP
0.504
2--
TIMM17A-
-
-
-
3Gain-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM44p.Q243*
Nonsense
SNP
0.171
2--
TINAGp.A266T
Missense
SNP
0.510
2--
TINAGL1-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TJP1-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE3-
-
-
-
3Gain-
TLE7-
-
-
-
1Loss-
TLK2p.Q204*
Nonsense
SNP
0.276
2--
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR2-
-
-
-
1Loss-
TLR4p.P539S
Missense
SNP
0.673
2--
TLR5-
-
-
-
3Gain-
TLR8p.L932F
Missense
SNP
0.677
NDND-
TM2D3-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
3Gain-
TM7SF3p.X31_splice
Splice_Site
SNP
0.281
2--
TM9SF4-
-
-
-
3Gain-
TMBIM1p.T237F
Missense
DNP
0.396
2--
TMC2p.L782F
Missense
SNP
0.172
2--
TMC3p.G405E
Missense
SNP
0.521
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO4-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED6-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM130p.R336K
Missense
SNP
0.339
3Gain-
TMEM131L-
-
-
-
1Loss-
TMEM135p.Q269*
Nonsense
SNP
0.427
2--
TMEM136p.L139F
Missense
SNP
0.241
2--
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM158p.G21R
Missense
SNP
0.245
2--
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM174p.D110N
Missense
SNP
0.253
2--
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM200B-
-
-
-
3Gain-
TMEM201-
-
-
-
3Gain-
TMEM202-
-
-
-
3Gain-
TMEM203p.S68F
Missense
SNP
0.680
2--
TMEM206-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM215-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM222-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM234-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM240-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM266-
-
-
-
3Gain-
TMEM267-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM35B-
-
-
-
3Gain-
TMEM39B-
-
-
-
3Gain-
TMEM40p.S64F
Missense
SNP
0.284
2--
TMEM50A-
-
-
-
3Gain-
TMEM51-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM54-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63Cp.E721K
Missense
SNP
0.192
2--
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM74p.D32N
Missense
SNP
0.361
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM82-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMPRSS11Fp.R274Q
Missense
SNP
0.339
2--
TMPRSS15p.D670N
Missense
SNP
0.237
2--
TMPRSS9p.G1000N
Missense
DNP
0.400
2--
TMUB1-
-
-
-
3Gain-
TNFRSF10Cp.A164V
Missense
SNP
0.156
2--
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF14-
-
-
-
3Gain-
TNFRSF18-
-
-
-
3Gain-
TNFRSF1B-
-
-
-
3Gain-
TNFRSF25p.Q101*
Nonsense
SNP
0.314
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
3Gain-
TNFRSF9-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC2-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRp.E544K
Missense
SNP
0.620
3Gain-
TNRC18-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXBp.S2002F
Missense
SNP
0.231
1Loss-
TOM1p.S123F
Missense
SNP
0.207
2--
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM34-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP3A-
-
-
-
1Loss-
TOPORS-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53p.G244C
p.R110C
p.R248W
Missense
Missense
Missense
SNP
SNP
SNP
0.132
0.300
0.588
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP73-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRG1L-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPX2-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRADD-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAM1L1-
-
-
-
1Loss-
TRANK1p.L1418F
Missense
SNP
0.122
2--
TRAPPC1-
-
-
-
1Loss-
TRAPPC10p.E735*
Nonsense
SNP
0.500
2--
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TRAV12-1p.S51F
p.S93F
Missense
Missense
SNP
SNP
0.206
0.194
NDND-
TRBV2p.S67F
Missense
SNP
0.255
NDND-
TRDMT1-
-
-
-
1Loss-
TRHRp.D237N
Missense
SNP
0.320
3Gain-
TRIB1-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM10-
-
-
-
1Loss-
TRIM11-
-
-
-
3Gain-
TRIM15-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM2-
-
-
-
1Loss-
TRIM22p.R476*
Nonsense
SNP
0.471
2--
TRIM24p.N995K
Missense
SNP
0.508
3Gain-
TRIM26-
-
-
-
1Loss-
TRIM27-
-
-
-
1Loss-
TRIM31-
-
-
-
1Loss-
TRIM38-
-
-
-
1Loss-
TRIM39-
-
-
-
1Loss-
TRIM39-RPP21-
-
-
-
1Loss-
TRIM4-
-
-
-
3Gain-
TRIM40-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM52-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM62-
-
-
-
3Gain-
TRIM63-
-
-
-
3Gain-
TRIM64Bp.S379F
Missense
SNP
0.196
2--
TRIM67-
-
-
-
3Gain-
TRIM7-
-
-
-
1Loss-
TRIM71p.S396F
Missense
SNP
0.182
2--
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIML1p.E45K
Missense
SNP
0.423
2--
TRIP10p.L569F
Missense
SNP
0.388
2--
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10B-
-
-
-
NDNDTRMT10B--MED27
TRMT12-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMU-
-
-
-
3Gain-
TRNAU1AP-
-
-
-
3Gain-
TRNP1-
-
-
-
3Gain-
TROAPp.S123F
Missense
SNP
0.239
2--
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPC4AP-
-
-
-
3Gain-
TRPM1p.S1601F
Missense
SNP
0.295
3Gain-
TRPM6p.S504L
Missense
SNP
0.690
2--
TRPS1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV5p.R589K
Missense
SNP
0.267
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TRUB2p.R271K
Missense
SNP
0.722
2--
TSACC-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHRp.D487N
Missense
SNP
0.206
2--
TSHZ2-
-
-
-
3Gain-
TSHZ3p.S525F
Missense
SNP
0.381
2--
TSKSp.G413E
Missense
SNP
0.424
2--
TSKUp.A10V
Missense
SNP
0.206
2--
TSNARE1-
-
-
-
3Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN3-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN5-
-
-
-
1Loss-
TSPAN8p.I116N
Missense
SNP
0.190
2--
TSPYL5-
-
-
-
3Gain-
TSR1p.R279*
Nonsense
SNP
0.232
1Loss-
TSSK3-
-
-
-
3Gain-
TSTA3-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTC12p.A83V
Missense
SNP
0.141
2--
TTC13-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC23-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC29p.H187Y
Missense
SNP
0.347
2--
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
3Gain-
TTC38-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTC6p.E114K
Missense
SNP
0.229
2--
TTI1-
-
-
-
3Gain-
TTLL10-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL9-
-
-
-
3Gain-
TTNp.R18451Q
p.P13543H
p.E12021K
p.E11603K
p.E11348K
p.P11338T
p.E9872K
p.D9800N
p.W9052L
p.W8784*
p.E4087K
p.R2540C
p.I2504V
p.S1542L
p.E923K
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Nonsense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.198
0.297
0.162
0.169
0.399
0.171
0.211
0.303
0.337
0.343
0.240
0.209
0.324
0.352
0.235
2--
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA3Cp.P173S
Missense
SNP
0.341
2--
TUBAL3-
-
-
-
1Loss-
TUBB-
-
-
-
1Loss-
TUBB1-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP5-
-
-
-
3Gain-
TUBGCP6p.S629Y
Missense
DNP
0.356
2--
TULP2p.R170Q
Missense
SNP
0.182
2--
TUSC1-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXKp.P268L
Missense
SNP
0.163
2--
TXLNA-
-
-
-
3Gain-
TXNDC16p.P115S
Missense
SNP
0.150
2--
TXNDC17-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1Bp.E242K
Missense
SNP
0.196
3Gain-
UACA-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBAP1-
-
-
-
1Loss-
UBAP1L-
-
-
-
3Gain-
UBAP2p.R149K
Missense
SNP
0.368
1Loss-
UBAP2L-
-
-
-
3Gain-
UBB-
-
-
-
1Loss-
UBD-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J2-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2QL1p.E149K
Missense
SNP
0.145
2--
UBE2R2-
-
-
-
1Loss-
UBE2T-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3A-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE4B-
-
-
-
3Gain-
UBIAD1-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBN2p.R247C
Missense
SNP
0.123
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR4-
-
-
-
3Gain-
UBR5-
-
-
-
3Gain-
UBXN10-
-
-
-
3Gain-
UBXN11-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGT1A10p.S122L
Missense
SNP
0.188
2--
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3p.P387S
Missense
SNP
0.396
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15p.D493N
Missense
SNP
0.180
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT8-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
3Gain-
ULK4p.S1110F
Missense
SNP
0.142
2--
UMAD1-
-
-
-
3Gain-
UNC13Cp.E85D
p.D919N
p.L2203P
Missense
Missense
Missense
SNP
SNP
SNP
0.345
0.299
0.432
3Gain-
UNC45A-
-
-
-
3Gain-
UNC5C-
-
-
-
1Loss-
UNC5Dp.Q910*
Nonsense
SNP
0.405
2--
UNC80p.D1373N
p.E2185K
Missense
Missense
SNP
SNP
0.122
0.171
2--
UNCX-
-
-
-
3Gain-
UPF2-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC1-
-
-
-
3Gain-
UQCRB-
-
-
-
3Gain-
UQCRHL-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
UROC1p.A196V
Missense
SNP
0.369
2--
USB1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH2Ap.R2509W
p.P1531S
Missense
Missense
SNP
SNP
0.137
0.738
3Gain-
USHBP1p.L269F
Missense
SNP
0.195
2--
USO1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP19p.P289L
Missense
SNP
0.205
2--
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP26p.S787F
Missense
SNP
0.328
NDND-
USP3-
-
-
-
3Gain-
USP41p.G61E
Missense
SNP
0.192
2--
USP42-
-
-
-
3Gain-
USP43p.E316K
Missense
SNP
0.262
1Loss-
USP46p.R60W
Missense
SNP
0.192
2--
USP48-
-
-
-
3Gain-
USP53-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP14Cp.D601Y
Missense
SNP
0.219
2--
UTP23-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
UTP4-
-
-
-
1Loss-
UTS2-
-
-
-
3Gain-
VAC14-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
3Gain-
VARS2-
-
-
-
1Loss-
VASH2-
-
-
-
3Gain-
VAT1L-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
3Gain-
VENTX-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VIPR1p.D362N
Missense
SNP
0.342
2--
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPS13Ap.D2685N
Missense
SNP
0.511
2--
VPS13B-
-
-
-
3Gain-
VPS13C-
-
-
-
3Gain-
VPS13D-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS33Ap.R70C
Missense
SNP
0.393
2--
VPS33B-
-
-
-
3Gain-
VPS35-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS50-
-
-
-
4Gain-
VPS53-
-
-
-
1Loss-
VPS9D1-
-
-
-
1Loss-
VRTNp.Q559*
Nonsense
SNP
0.218
2--
VSIG8-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2L-
-
-
-
3Gain-
VSTM4-
-
-
-
1Loss-
VTCN1p.P171T
Missense
SNP
0.639
2--
VWA1-
-
-
-
3Gain-
VWA5B1-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDEp.S626L
Missense
SNP
0.129
3Gain-
VWFp.P2694S
Missense
SNP
0.236
2--
VXN-
-
-
-
3Gain-
WAC-
-
-
-
1Loss-
WASp.W500*
Nonsense
SNP
0.263
NDND-
WASF2-
-
-
-
3Gain-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC5-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP1p.F34L
Missense
SNP
0.417
2--
WDFY3-
-
-
-
1Loss-
WDFY4p.S1007F
Missense
SNP
0.233
1Loss-
WDR1p.P417L
Missense
SNP
0.364
2--
WDR18p.P352S
Missense
SNP
0.189
2--
WDR26-
-
-
-
3Gain-
WDR35p.V373L
Missense
SNP
0.364
2--
WDR37-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR61-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66p.P881L
Missense
SNP
0.334
2--
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR86-
-
-
-
3Gain-
WDR87p.M1862I
p.E1328K
Missense
Missense
SNP
SNP
0.361
0.191
2--
WDR91-
-
-
-
3Gain-
WDR93-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WDTC1-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WEE2p.G421R
Missense
SNP
0.206
3Gain-
WFDC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WHAMM-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
3Gain-
WNT6p.R244C
Missense
SNP
0.230
2--
WNT7B-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
3Gain-
WSCD1-
-
-
-
1Loss-
WWOXp.L225F
Missense
SNP
0.311
1Loss-
WWP1-
-
-
-
3Gain-
WWP2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XDHp.G458E
Missense
SNP
0.180
2--
XIRP1p.M1060I
Missense
SNP
0.401
2--
XIRP2p.H341Y
p.E568K
Missense
Missense
SNP
SNP
0.369
0.198
2--
XKR5p.G558S
Missense
SNP
0.229
2--
XKR7-
-
-
-
3Gain-
XKR8-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPO4-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XYLT1p.M445I
Missense
SNP
0.264
2--
YAE1-
-
-
-
3Gain-
YARS-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YEATS2p.P472L
Missense
SNP
0.343
2--
YKT6-
-
-
-
3Gain-
YME1L1-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z98752.3-
-
-
-
3Gain-
ZANp.Q2530*
Nonsense
SNP
0.350
3Gain-
ZBED4-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBED9-
-
-
-
1Loss-
ZBP1-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB17-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB22p.M524I
Missense
SNP
0.404
2--
ZBTB37-
-
-
-
3Gain-
ZBTB4p.P288L
Missense
SNP
0.208
1Loss-
ZBTB40-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB43p.P13S
Missense
SNP
0.533
2--
ZBTB46-
-
-
-
3Gain-
ZBTB47p.P408S
Missense
SNP
0.165
2--
ZBTB48-
-
-
-
3Gain-
ZBTB7B-
-
-
-
3Gain-
ZBTB8A-
-
-
-
3Gain-
ZBTB8B-
-
-
-
3Gain-
ZBTB8OS-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H12A-
-
-
-
3Gain-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZC4H2p.K102E
Missense
SNP
0.302
NDND-
ZCCHC14-
-
-
-
1Loss-
ZCCHC17-
-
-
-
3Gain-
ZCWPW1-
-
-
-
3Gain-
ZCWPW2p.W150*
Nonsense
SNP
0.352
2--
ZDBF2p.R2047Q
Missense
DNP
0.330
2--
ZDHHC1-
-
-
-
1Loss-
ZDHHC18-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC6p.S376T
Missense
SNP
0.648
2--
ZDHHC7-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFAND6-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFHX2-
-
-
-
1Loss-
ZFHX3p.L32F
Missense
SNP
0.667
1Loss-
ZFHX4p.D476N
p.S2565F
Missense
Missense
SNP
SNP
0.101
0.127
3Gain-
ZFP1-
-
-
-
1Loss-
ZFP2p.E2K
Missense
SNP
0.333
2--
ZFP3-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP57-
-
-
-
1Loss-
ZFP64-
-
-
-
3Gain-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2p.P676L
Missense
SNP
0.343
3Gain-
ZFR-
-
-
-
3Gain-
ZFR2p.P54S
Missense
SNP
0.324
2--
ZFYVE26p.L1914F
p.R872C
Missense
Missense
SNP
SNP
0.488
0.112
2--
ZGPAT-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZIM3p.G397E
Missense
SNP
0.208
2--
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN3-
-
-
-
1Loss-
ZKSCAN4-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN8-
-
-
-
1Loss-
ZMAT2p.M133V
Missense
SNP
0.446
2--
ZMIZ1p.S145L
Missense
SNP
0.601
2--
ZMIZ2-
-
-
-
3Gain-
ZMYM1-
-
-
-
3Gain-
ZMYM2-
-
-
-
3Gain-
ZMYM4-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYM6-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF10p.S251L
Missense
SNP
0.231
2--
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF112p.E585K
p.C583R
Missense
Missense
SNP
SNP
0.127
0.208
2--
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF14p.R542C
Missense
SNP
0.197
1Loss-
ZNF146p.H234Y
Missense
SNP
0.186
2--
ZNF16-
-
-
-
3Gain-
ZNF165-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF182p.R282Q
Missense
SNP
0.623
NDND-
ZNF184-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF202p.P456L
Missense
SNP
0.211
2--
ZNF208-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF217-
-
-
-
3Gain-
ZNF22-
-
-
-
1Loss-
ZNF227p.S136F
Missense
SNP
0.397
2--
ZNF23-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF233p.H308Y
Missense
SNP
0.161
2--
ZNF236p.D1566E
Missense
SNP
0.612
2--
ZNF239-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF285p.S337F
Missense
SNP
0.179
2--
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF3-
-
-
-
3Gain-
ZNF311-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF322-
-
-
-
1Loss-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF33Ap.H108Y
Missense
SNP
0.423
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF354Ap.P493S
Missense
SNP
0.479
2--
ZNF362-
-
-
-
3Gain-
ZNF37A-
-
-
-
1Loss-
ZNF391-
-
-
-
1Loss-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF419p.K448N
Missense
SNP
0.349
2--
ZNF420p.E388K
Missense
SNP
0.211
2--
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF436-
-
-
-
3Gain-
ZNF438-
-
-
-
1Loss-
ZNF467-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF479p.S91F
Missense
SNP
0.132
2--
ZNF485-
-
-
-
1Loss-
ZNF486p.E113K
Missense
SNP
0.163
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF492p.Q64*
Nonsense
SNP
0.204
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
3Gain-
ZNF506-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF529p.P15L
Missense
SNP
0.183
2--
ZNF534p.D35N
p.S156F
p.H329Y
Missense
Missense
Missense
SNP
SNP
SNP
0.183
0.185
0.164
2--
ZNF544p.S683C
Missense
SNP
0.406
2--
ZNF560p.G690E
p.W178*
Missense
Nonsense
SNP
SNP
0.235
0.146
2--
ZNF564p.L71F
Missense
SNP
0.175
2--
ZNF572-
-
-
-
3Gain-
ZNF573p.E271K
Missense
SNP
0.183
2--
ZNF578p.W38*
Nonsense
SNP
0.248
2--
ZNF583p.E381K
Missense
SNP
0.176
2--
ZNF585Ap.Q737*
Nonsense
SNP
0.372
2--
ZNF592-
-
-
-
3Gain-
ZNF593-
-
-
-
3Gain-
ZNF594-
-
-
-
1Loss-
ZNF606p.G536R
p.G480R
p.P6L
Missense
Missense
Missense
SNP
SNP
SNP
0.247
0.416
0.157
2--
ZNF607p.E71K
Missense
SNP
0.367
2--
ZNF609p.A867V
Missense
SNP
0.313
3Gain-
ZNF611p.H500Y
Missense
SNP
0.198
2--
ZNF623-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF638p.S310F
Missense
SNP
0.357
2--
ZNF648-
-
-
-
3Gain-
ZNF652p.P497L
Missense
SNP
0.278
2--
ZNF655-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF667p.H437Y
p.R341K
Missense
Missense
SNP
SNP
0.191
0.194
2--
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676p.E90K
Missense
SNP
0.374
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682p.H419Y
Missense
SNP
0.496
1Loss-
ZNF683-
-
-
-
3Gain-
ZNF69p.H176Y
Missense
SNP
0.414
2--
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF708p.H302Y
Missense
SNP
0.194
1Loss-
ZNF710-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF714-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727p.K165I
Missense
SNP
0.243
2--
ZNF728p.K128*
Nonsense
SNP
0.294
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF735p.A177T
Missense
SNP
0.237
2--
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF746-
-
-
-
3Gain-
ZNF77p.P163S
Missense
SNP
0.163
2--
ZNF774-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804Ap.D333N
Missense
SNP
0.357
2--
ZNF804B-
-
-
-
3Gain-
ZNF812Pp.S263F
Missense
SNP
0.149
NDND-
ZNF816p.H307Y
Missense
SNP
0.206
2--
ZNF821-
-
-
-
1Loss-
ZNF831p.E878K
Missense
SNP
0.150
3Gain-
ZNF84p.S665F
Missense
SNP
0.177
2--
ZNF843p.W73*
Nonsense
SNP
0.186
2--
ZNF845p.H657Y
Missense
SNP
0.349
2--
ZNF85-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF90-
-
-
-
1Loss-
ZNF91p.E991K
p.S169L
Missense
Missense
SNP
SNP
0.328
0.189
1Loss-
ZNF92-
-
-
-
3Gain-
ZNF93p.P256L
Missense
SNP
0.277
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99p.E484K
Missense
SNP
0.377
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRD1-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF4p.ME134IK
Missense
DNP
0.181
2--
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN10p.R560C
Missense
SNP
0.429
2--
ZSCAN12-
-
-
-
1Loss-
ZSCAN16-
-
-
-
1Loss-
ZSCAN18p.S309F
Missense
SNP
0.204
2--
ZSCAN2-
-
-
-
3Gain-
ZSCAN20-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN23-
-
-
-
1Loss-
ZSCAN25-
-
-
-
3Gain-
ZSCAN26-
-
-
-
1Loss-
ZSCAN31p.E144K
Missense
SNP
0.446
1Loss-
ZSCAN9-
-
-
-
1Loss-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZWILCH-
-
-
-
3Gain-
ZWINT-
-
-
-
1Loss-
ZYG11Ap.E31K
Missense
SNP
0.180
2--
ZYX-
-
-
-
3Gain-
ZZEF1p.P2771S
Missense
SNP
0.540
1Loss-