PDMR-791794~340-R~K7UA26-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AAGAB-
-
-
-
4Gain-
AAMP-
-
-
-
1Loss-
AARS2-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCB11-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCC1-
-
-
-
3Gain-
ABCC10p.R1094H
Missense
SNP
0.362
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC6p.X648_splice
Splice_Site
SNP
0.310
3Gain-
ABCC8-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF1-
-
-
-
1Loss-
ABCF3p.E242Q
Missense
SNP
0.397
2--
ABCG1-
-
-
-
3Gain-
ABHD10-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD16A-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD17C-
-
-
-
3Gain-
ABHD18p.R36K
Missense
SNP
1.000
1Loss-
ABHD5-
-
-
-
3Gain-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3BPp.D355H
Missense
SNP
0.133
3Gain-
ABLIM2-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABT1-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC001226.2-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
3Gain-
AC005779.2-
-
-
-
3Gain-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
3Gain-
AC006486.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007000.3-
-
-
-
NDNDAC007000.3--CCDC146
AC008481.3-
-
-
-
3Gain-
AC008537.1-
-
-
-
1Loss-
AC008763.2-
-
-
-
3Gain-
AC008763.3-
-
-
-
3Gain-
AC008878.1-
-
-
-
3Gain-
AC008878.2-
-
-
-
3Gain-
AC008878.3-
-
-
-
3Gain-
AC009690.1-
-
-
-
4Gain-
AC009690.3-
-
-
-
4Gain-
AC010132.3-
-
-
-
3Gain-
AC010323.1-
-
-
-
3Gain-
AC010422.3-
-
-
-
3Gain-
AC010422.5-
-
-
-
3Gain-
AC010422.8-
-
-
-
3Gain-
AC010615.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
3Gain-
AC011499.1-
-
-
-
3Gain-
AC011511.1-
-
-
-
3Gain-
AC011511.4-
-
-
-
3Gain-
AC011530.1-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC018523.2-
-
-
-
1Loss-
AC020915.1-
-
-
-
3Gain-
AC020915.5-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC024592.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC068831.7-
-
-
-
3Gain-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
3Gain-
AC090517.4-
-
-
-
3Gain-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC092042.3-
-
-
-
3Gain-
AC092329.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC093323.1-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC097104.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
3Gain-
AC099489.1-
-
-
-
3Gain-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104532.1-
-
-
-
3Gain-
AC104662.2-
-
-
-
1Loss-
AC107871.1-
-
-
-
4Gain-
AC112128.1-
-
-
-
3Gain-
AC113348.2-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
1Loss-
AC119396.1-
-
-
-
3Gain-
AC119674.2-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC138811.2-
-
-
-
3Gain-
AC139491.7-
-
-
-
3Gain-
AC140504.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
4Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243967.1-
-
-
-
1Loss-
AC245033.1-
-
-
-
3Gain-
ACAA1-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD6p.E262K
Missense
SNP
0.388
2--
ACBD7-
-
-
-
1Loss-
ACER1-
-
-
-
3Gain-
ACER2-
-
-
-
3Gain-
ACKR2-
-
-
-
3Gain-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT11-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP5-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACR-
-
-
-
3Gain-
ACSBG1-
-
-
-
3Gain-
ACSBG2-
-
-
-
3Gain-
ACSL3-
-
-
-
1Loss-
ACSM1-
-
-
-
3Gain-
ACSM2A-
-
-
-
3Gain-
ACSM2B-
-
-
-
3Gain-
ACSM3-
-
-
-
3Gain-
ACSM5-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTB-
-
-
-
3GainFBXL18--ACTB
ACTL9-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVR2B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
ADAM10-
-
-
-
3Gain-
ADAM12-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAMTS10-
-
-
-
3Gain-
ADAMTS19p.K721E
Missense
SNP
0.388
2--
ADAMTS2p.C517Y
Missense
SNP
0.319
3Gain-
ADAMTS7-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL3-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
4Gain-
ADARB1-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY1p.D953N
Missense
SNP
0.624
3Gain-
ADCY5-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRD1-
-
-
-
3Gain-
ADGRE1-
-
-
-
3Gain-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5-
-
-
-
3Gain-
ADGRG7-
-
-
-
3Gain-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
3Gain-
ADPGK-
-
-
-
4Gain-
ADPRH-
-
-
-
3Gain-
ADRA2C-
-
-
-
1Loss-
ADTRP-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AES-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF1-
-
-
-
2-AFF1--NPIPP1
AGAP1-
-
-
-
1Loss-
AGAP2-
-
-
-
3Gain-
AGER-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPAT1-
-
-
-
1Loss-
AGPAT3-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AIF1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIRE-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP13p.E817K
Missense
SNP
0.559
2--
AKIP1-
-
-
-
1Loss-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AL021997.3-
-
-
-
1Loss-
AL024498.2-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
1Loss-
AL096814.1-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL353588.1-
-
-
-
3Gain-
AL355312.5-
-
-
-
1Loss-
AL357673.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365205.1-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445685.3-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
1Loss-
AL645941.2-
-
-
-
1Loss-
AL662884.4-
-
-
-
1Loss-
AL662899.1-
-
-
-
1Loss-
AL662899.2-
-
-
-
1Loss-
AL669918.1-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH5A1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
3Gain-
ALG13p.Q832E
Missense
SNP
0.459
NDND-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG6-
-
-
-
1Loss-
ALKAL1-
-
-
-
1Loss-
ALKBH7-
-
-
-
3Gain-
ALMS1p.E2925*
p.M2942I
Nonsense
Missense
SNP
SNP
0.399
0.413
2--
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX1-
-
-
-
3Gain-
AMER1p.L454F
Missense
SNP
0.631
NDND-
AMH-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMN1p.D75H
Missense
SNP
0.489
2--
AMOTL2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANAPC4-
-
-
-
1Loss-
ANGPTL3-
-
-
-
1Loss-
ANGPTL4-
-
-
-
3Gain-
ANGPTL6-
-
-
-
3Gain-
ANGPTL8-
-
-
-
3Gain-
ANK3p.E1040Q
Missense
SNP
0.437
2--
ANKDD1A-
-
-
-
3Gain-
ANKHD1-EIF4EBP3p.S29W
Missense
SNP
0.471
2--
ANKLE2-
-
-
-
3Gain-
ANKMY1-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD24-
-
-
-
3Gain-
ANKRD26-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD33-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34C-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD50-
-
-
-
1Loss-
ANKRD52-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD66-
-
-
-
3Gain-
ANKS1A-
-
-
-
1Loss-
ANKS4B-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO10-
-
-
-
3Gain-
ANO7-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
4Gain-
ANP32E-
-
-
-
3Gain-
ANXA2-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOX1-
-
-
-
1Loss-
AP1M2-
-
-
-
3Gain-
AP1S3-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2S1-
-
-
-
3Gain-
AP3B2-
-
-
-
3Gain-
AP3D1-
-
-
-
3Gain-
AP4E1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBA3-
-
-
-
3Gain-
APBB1-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APMAPp.E352K
Missense
SNP
0.531
2--
APOBEC2-
-
-
-
1Loss-
APOC1-
-
-
-
3Gain-
APOC2-
-
-
-
3Gain-
APOC4-APOC2-
-
-
-
3Gain-
APOE-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOM-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP8-
-
-
-
3Gain-
AQP9-
-
-
-
3Gain-
ARAP1p.Q950H
Missense
SNP
0.512
2--
ARAP2-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARFGAP1p.H95Y
Missense
SNP
0.469
2--
ARFIP2-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP17-
-
-
-
3Gain-
ARHGAP21-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP35-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP44p.S160F
Missense
SNP
0.500
2--
ARHGAP45-
-
-
-
1Loss-
ARHGAP9-
-
-
-
3Gain-
ARHGEF1-
-
-
-
1Loss-
ARHGEF17p.L2006P
Missense
DNP
0.407
2--
ARHGEF18-
-
-
-
3Gain-
ARHGEF25-
-
-
-
3Gain-
ARID1B-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
3Gain-
ARID4Ap.K558N
Missense
SNP
0.545
2--
ARIH1-
-
-
-
4Gain-
ARIH2OSp.S56L
Missense
SNP
0.519
2--
ARL10-
-
-
-
3Gain-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL4C-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP1-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARMC12-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPP19-
-
-
-
3Gain-
ARPP21-
-
-
-
3Gain-
ARRDC5-
-
-
-
3Gain-
ARSA-
-
-
-
3Gain-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB10p.S282L
Missense
SNP
1.000
2--
ASB13-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB6-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASL-
-
-
-
3Gain-
ASNA1-
-
-
-
3Gain-
ASPH-
-
-
-
1Loss-
ASPNp.D108H
Missense
SNP
0.467
2--
ASTE1-
-
-
-
3Gain-
ATAT1-
-
-
-
1Loss-
ATCAY-
-
-
-
3Gain-
ATF1-
-
-
-
3Gain-
ATF6B-
-
-
-
1Loss-
ATF7-
-
-
-
3Gain-
ATF7IP2-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG4B-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG4D-
-
-
-
3Gain-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATP10Ap.Q1461K
Missense
SNP
0.435
2--
ATP10D-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
ATP23-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2C1p.Q626R
Missense
SNP
0.396
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MC2-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP6V1A-
-
-
-
3Gain-
ATP6V1D-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
1Loss-
ATP6V1G2-DDX39B-
-
-
-
1Loss-
ATP6V1H-
-
-
-
1Loss-
ATP7Ap.L841H
p.Q1021P
p.E1416D
Missense
Missense
Missense
SNP
SNP
SNP
0.374
0.646
0.315
NDND-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8B2p.L75V
Missense
SNP
0.304
2--
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
3Gain-
ATXN1-
-
-
-
1Loss-
ATXN10-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AXL-
-
-
-
1Loss-
AZI2-
-
-
-
3Gain-
AZU1-
-
-
-
1Loss-
B3GALT1-
-
-
-
1Loss-
B3GALT4-
-
-
-
1Loss-
B3GALT5-
-
-
-
3Gain-
B3GNT7-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B4GALNT1-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT7-
-
-
-
3Gain-
B9D2-
-
-
-
1Loss-
BAATp.L278I
Missense
SNP
0.468
2--
BACE2-
-
-
-
3Gain-
BACH2p.E204K
Missense
SNP
0.491
2--
BAG6-
-
-
-
1Loss-
BAK1-
-
-
-
1Loss-
BAMBI-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BAZ1B-
-
-
-
3Gain-
BAZ2A-
-
-
-
3Gain-
BBC3-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS4-
-
-
-
4Gain-
BBS5-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
3Gain-
BCAM-
-
-
-
3Gain-
BCAS3p.S171L
Missense
SNP
1.000
2--
BCCIP-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL2p.F151I
Missense
SNP
0.496
2--
BCL2A1-
-
-
-
3Gain-
BCL2L10-
-
-
-
3Gain-
BCL3-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCS1L-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST2-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BFAR-
-
-
-
3Gain-
BFSP2-
-
-
-
3Gain-
BHLHE22-
-
-
-
1Loss-
BHMG1-
-
-
-
3Gain-
BICRA-
-
-
-
3Gain-
BICRAL-
-
-
-
1Loss-
BIN2-
-
-
-
3Gain-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLM-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S3-
-
-
-
3Gain-
BLOC1S4-
-
-
-
1Loss-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BLVRB-
-
-
-
1Loss-
BLZF1p.S168F
Missense
SNP
0.481
2--
BMI1-
-
-
-
1Loss-
BMP6-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BMPR2-
-
-
-
1Loss-
BNC1-
-
-
-
3Gain-
BNC2-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOD1-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BORA-
-
-
-
1Loss-
BPHL-
-
-
-
1Loss-
BPIp.I116M
Missense
SNP
0.479
2--
BRAT1-
-
-
-
3Gain-
BRCA1p.S864*
Nonsense
SNP
1.000
2--
BRD1-
-
-
-
3Gain-
BRD2-
-
-
-
1Loss-
BRD7p.D415H
Missense
SNP
0.600
2--
BRPF3-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BSPH1-
-
-
-
3Gain-
BST1-
-
-
-
1Loss-
BTBD1-
-
-
-
3Gain-
BTBD10-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD9-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG1-
-
-
-
3Gain-
BTLA-
-
-
-
3Gain-
BTN1A1-
-
-
-
1Loss-
BTN2A1-
-
-
-
1Loss-
BTN2A2-
-
-
-
1Loss-
BTN3A1-
-
-
-
1Loss-
BTN3A2-
-
-
-
1Loss-
BTN3A3-
-
-
-
1Loss-
BTNL2-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
3Gain-
BTNL9-
-
-
-
3Gain-
BUD23-
-
-
-
3Gain-
BYSL-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74p.S44L
Missense
SNP
0.468
2--
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf61-
-
-
-
4Gain-
C15orf65-
-
-
-
3Gain-
C16orf45-
-
-
-
3Gain-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
3Gain-
C19orf54-
-
-
-
1Loss-
C19orf66-
-
-
-
3Gain-
C19orf70-
-
-
-
3Gain-
C19orf71-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1orf123-
-
-
-
1Loss-
C1orf141-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf87-
-
-
-
1Loss-
C1QL3-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C2-
-
-
-
1Loss-
C21orf58-
-
-
-
3Gain-
C2CD2-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3-
-
-
-
3Gain-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C5AR1-
-
-
-
3Gain-
C5AR2-
-
-
-
3Gain-
C5orf47-
-
-
-
3Gain-
C5orf60-
-
-
-
3Gain-
C6orf10-
-
-
-
1Loss-
C6orf106-
-
-
-
1Loss-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf132-
-
-
-
1Loss-
C6orf136-
-
-
-
1Loss-
C6orf141-
-
-
-
3Gain-
C6orf15-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf222-
-
-
-
1Loss-
C6orf223-
-
-
-
3Gain-
C6orf226-
-
-
-
1Loss-
C6orf47-
-
-
-
1Loss-
C6orf48-
-
-
-
1Loss-
C6orf52-
-
-
-
1Loss-
C6orf62-
-
-
-
1Loss-
C6orf89-
-
-
-
1Loss-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf50-
-
-
-
4Gain-
C7orf57-
-
-
-
3Gain-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8orf82-
-
-
-
3Gain-
C9orf50p.N238S
Missense
SNP
0.430
2--
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA12-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA8-
-
-
-
1Loss-
CAAP1-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABP5-
-
-
-
3Gain-
CACHD1-
-
-
-
1Loss-
CACNA1A-
-
-
-
3Gain-
CACNB2-
-
-
-
1Loss-
CACNG3-
-
-
-
3Gain-
CACTIN-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM4-
-
-
-
3Gain-
CAGE1-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
3Gain-
CALM3-
-
-
-
3Gain-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
4Gain-
CALML5-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALR-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMSAP3-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CANX-
-
-
-
3Gain-
CAP2-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN11-
-
-
-
3Gain-
CAPS-
-
-
-
3Gain-
CAPS2p.S376F
Missense
SNP
0.630
3Gain-
CARD11-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARM1-
-
-
-
3Gain-
CARMIL1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CATIP-
-
-
-
1Loss-
CATSPERD-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLC-
-
-
-
3Gain-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBSL-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CBY3-
-
-
-
3Gain-
CC2D1B-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CCDC13-
-
-
-
3Gain-
CCDC14-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC146-
-
-
-
3GainAC007000.3--CCDC146
CCDC149-
-
-
-
1Loss-
CCDC151-
-
-
-
3Gain-
CCDC159-
-
-
-
3Gain-
CCDC166-
-
-
-
3Gain-
CCDC167-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC171p.K540*
Nonsense
SNP
0.311
3Gain-
CCDC173-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC33-
-
-
-
4Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC61-
-
-
-
3Gain-
CCDC68p.L271F
Missense
SNP
0.433
2--
CCDC70-
-
-
-
1Loss-
CCDC8-
-
-
-
3Gain-
CCDC80-
-
-
-
3Gain-
CCDC9-
-
-
-
3Gain-
CCDC96-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCER1-
-
-
-
3Gain-
CCHCR1-
-
-
-
1Loss-
CCK-
-
-
-
3Gain-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL25-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNB2-
-
-
-
3Gain-
CCND3-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCP110-
-
-
-
3Gain-
CCPG1-
-
-
-
3Gain-
CCR3p.R87Q
Missense
SNP
1.000
2--
CCR4-
-
-
-
3Gain-
CCR6-
-
-
-
1Loss-
CCR8-
-
-
-
3Gain-
CCT2-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD177-
-
-
-
1Loss-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD209-
-
-
-
3Gain-
CD274-
-
-
-
3Gain-
CD276-
-
-
-
4Gain-
CD28-
-
-
-
1Loss-
CD2AP-
-
-
-
3Gain-
CD320-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD3EAP-
-
-
-
3Gain-
CD47-
-
-
-
3Gain-
CD55p.Q352*
Nonsense
SNP
0.471
2--
CD63-
-
-
-
3Gain-
CD70-
-
-
-
3Gain-
CD79A-
-
-
-
1Loss-
CD80-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD83-
-
-
-
1Loss-
CD86-
-
-
-
3Gain-
CD93p.S523C
Missense
SNP
0.422
2--
CD96-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC14C-
-
-
-
3Gain-
CDC23p.S578F
Missense
SNP
0.535
2--
CDC25Cp.E422Q
Missense
SNP
0.430
2--
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
3Gain-
CDC37L1-
-
-
-
3Gain-
CDC42BPBp.G473D
Missense
SNP
0.392
2--
CDC42SE1-
-
-
-
3Gain-
CDC5L-
-
-
-
3Gain-
CDCP2-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR2-
-
-
-
3Gain-
CDHR5-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK15-
-
-
-
1Loss-
CDK2-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDKAL1-
-
-
-
1Loss-
CDKN1A-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2B-
-
-
-
3Gain-
CDKN2D-
-
-
-
3Gain-
CDNF-
-
-
-
1Loss-
CDPF1-
-
-
-
3Gain-
CDR2-
-
-
-
3Gain-
CDSN-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CDYL-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
3Gain-
CEACAM19-
-
-
-
3Gain-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5p.Q172E
Missense
SNP
1.000
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPBp.K315N
Missense
SNP
0.515
2--
CELA1-
-
-
-
3Gain-
CELF2-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF5-
-
-
-
3Gain-
CELF6-
-
-
-
4Gain-
CELSR1-
-
-
-
3Gain-
CEMIP-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPCp.Q374*
Nonsense
SNP
0.479
2--
CENPP-
-
-
-
3Gain-
CENPQ-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP63-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CER1-
-
-
-
3Gain-
CERK-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS4-
-
-
-
3Gain-
CERS6-
-
-
-
1Loss-
CES1p.F356C
Missense
SNP
0.508
2--
CFAP100-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP410-
-
-
-
3Gain-
CFAP44-
-
-
-
3Gain-
CFAP46p.A1328T
Missense
SNP
1.000
1Loss-
CFAP65-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFB-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFLARp.D14H
Missense
SNP
1.000
1Loss-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CHAF1A-
-
-
-
3Gain-
CHAF1B-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD6-
-
-
-
3Gain-
CHCHD7-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD7-
-
-
-
1Loss-
CHFR-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHMP2A-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHP2-
-
-
-
3Gain-
CHPF-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNA3-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHRNB4-
-
-
-
3Gain-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CICp.E1368Q
Missense
SNP
1.000
1Loss-
CIITA-
-
-
-
3Gain-
CILP-
-
-
-
3Gain-
CIP2A-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKM-
-
-
-
3Gain-
CLASP2-
-
-
-
3Gain-
CLASRP-
-
-
-
3Gain-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLDN14-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDND1-
-
-
-
3Gain-
CLEC16A-
-
-
-
3Gain-
CLEC19A-
-
-
-
3Gain-
CLEC4G-
-
-
-
3Gain-
CLEC4M-
-
-
-
3Gain-
CLECL1p.P62A
Missense
SNP
0.443
2--
CLGN-
-
-
-
1Loss-
CLIC1-
-
-
-
1Loss-
CLIC5-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK1-
-
-
-
1Loss-
CLK3-
-
-
-
3Gain-
CLK4-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
4Gain-
CLNK-
-
-
-
1Loss-
CLPP-
-
-
-
3Gain-
CLPS-
-
-
-
1Loss-
CLPSL1-
-
-
-
1Loss-
CLPSL2-
-
-
-
1Loss-
CLPTM1-
-
-
-
3Gain-
CLPX-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLTB-
-
-
-
3Gain-
CLVS1-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMC1-
-
-
-
3Gain-
CMSS1-
-
-
-
3Gain-
CMTM6-
-
-
-
3Gain-
CMTM7-
-
-
-
3Gain-
CMTM8-
-
-
-
3Gain-
CMTR1-
-
-
-
1Loss-
CNBD1p.D286N
Missense
SNP
1.000
2--
CNBP-
-
-
-
3Gain-
CNFN-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN1-
-
-
-
3Gain-
CNN2-
-
-
-
1Loss-
CNOT10-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNOT6-
-
-
-
3Gain-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY2-
-
-
-
3Gain-
CNPY3-
-
-
-
1Loss-
CNTLN-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
COA1-
-
-
-
3Gain-
COA7-
-
-
-
1Loss-
COBL-
-
-
-
3Gain-
COG3-
-
-
-
2-COG3--MYO16
COG7-
-
-
-
3Gain-
COILp.P567A
Missense
SNP
1.000
2--
COL11A2-
-
-
-
1Loss-
COL18A1-
-
-
-
3Gain-
COL23A1-
-
-
-
3Gain-
COL24A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A1p.Q1002*
Nonsense
SNP
0.540
2--
COL5A3-
-
-
-
3Gain-
COL6A1-
-
-
-
3Gain-
COL6A2-
-
-
-
3Gain-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL8A1-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
3Gain-
COMMD6-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPG1-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ10B-
-
-
-
1Loss-
COQ7-
-
-
-
3Gain-
COQ8B-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO2B-
-
-
-
4Gain-
COX17-
-
-
-
3Gain-
COX19-
-
-
-
4Gain-
COX5A-
-
-
-
3Gain-
COX7B2-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPEB1-
-
-
-
3Gain-
CPEB2-
-
-
-
1Loss-
CPEB4-
-
-
-
3Gain-
CPLX1-
-
-
-
1Loss-
CPLX2-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPM-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE5-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPPED1-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPSF1-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPT1B-
-
-
-
3Gain-
CPT2-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CRABP1-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
3Gain-
CRB3-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB3L3-
-
-
-
3Gain-
CRELD2-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CRIP3-
-
-
-
3Gain-
CRISP1-
-
-
-
3Gain-
CRISP2-
-
-
-
3Gain-
CRISP3-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRTAP-
-
-
-
3Gain-
CRTC3-
-
-
-
3Gain-
CRX-
-
-
-
3Gain-
CRYAA-
-
-
-
3Gain-
CRYAA2-
-
-
-
3Gain-
CRYBA2-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYM-
-
-
-
3Gain-
CRYZ-
-
-
-
1Loss-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSK-
-
-
-
3Gain-
CSNK1A1Lp.E255K
Missense
SNP
0.457
2--
CSNK1G1-
-
-
-
3Gain-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSNK2B-
-
-
-
1Loss-
CSPG4-
-
-
-
3Gain-
CSRNP1-
-
-
-
3Gain-
CSRNP2-
-
-
-
3Gain-
CSRNP3-
-
-
-
1Loss-
CSRP2-
-
-
-
3Gain-
CSTA-
-
-
-
3Gain-
CSTB-
-
-
-
3Gain-
CT62-
-
-
-
4Gain-
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTDSPL-
-
-
-
3Gain-
CTH-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTNNB1-
-
-
-
3Gain-
CTR9-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSH-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTU2p.Q198E
Missense
SNP
0.365
2--
CTXN1-
-
-
-
3Gain-
CUBN-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUL7-
-
-
-
1Loss-
CUL9-
-
-
-
1Loss-
CUTA-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CX3CR1-
-
-
-
3Gain-
CXCL17-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXorf21p.S3L
Missense
SNP
0.624
NDND-
CYB5R2-
-
-
-
1Loss-
CYB5RL-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11A1-
-
-
-
4Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP20A1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27B1-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2J2-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP2W1-
-
-
-
4Gain-
CYP39A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
1Loss-
CYP7B1-
-
-
-
1Loss-
CYP8B1-
-
-
-
3Gain-
CYR61-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAAM2-
-
-
-
1Loss-
DAB1-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DACT3-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAND5-
-
-
-
3Gain-
DAOA-
-
-
-
1Loss-
DAPK1p.H166Y
Missense
SNP
0.468
2--
DAPK2-
-
-
-
3Gain-
DAPK3-
-
-
-
3Gain-
DAW1-
-
-
-
1Loss-
DAXX-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
3Gain-
DBN1-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCBLD2-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCDC2-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
3Gain-
DCLRE1C-
-
-
-
1Loss-
DCN-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTN2-
-
-
-
3Gain-
DCTN5-
-
-
-
3Gain-
DCUN1D3-
-
-
-
3Gain-
DDAH1-
-
-
-
1Loss-
DDAH2-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDR1-
-
-
-
1Loss-
DDX39B-
-
-
-
1Loss-
DDX41-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEDD2-
-
-
-
1Loss-
DEF6-
-
-
-
1Loss-
DEFB110-
-
-
-
3Gain-
DEFB112-
-
-
-
3Gain-
DEFB113-
-
-
-
3Gain-
DEFB114-
-
-
-
3Gain-
DEFB133-
-
-
-
3Gain-
DEK-
-
-
-
1Loss-
DENND1C-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENND6B-
-
-
-
3Gain-
DEPDC1-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DHCR24-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHPS-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX34-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIO1-
-
-
-
1Loss-
DIP2A-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DIP2C-
-
-
-
1Loss-
DIRAS1-
-
-
-
3Gain-
DIRAS3-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DIS3L2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLEC1-
-
-
-
3Gain-
DLEU7-
-
-
-
1Loss-
DLK2-
-
-
-
3Gain-
DLL1-
-
-
-
1Loss-
DMAC1-
-
-
-
3Gain-
DMAC2-
-
-
-
1Loss-
DMPK-
-
-
-
3Gain-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMRTB1-
-
-
-
1Loss-
DMRTC2-
-
-
-
1Loss-
DMWD-
-
-
-
3Gain-
DMXL2-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
4Gain-
DNAH10p.E2333Q
Missense
SNP
0.385
2--
DNAH2p.K1060R
Missense
SNP
0.450
2--
DNAH3p.E992G
Missense
SNP
0.648
3Gain-
DNAH7p.P230S
Missense
SNP
0.471
2--
DNAH8-
-
-
-
1Loss-
DNAJA1-
-
-
-
3Gain-
DNAJA4-
-
-
-
3Gain-
DNAJB2-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC13-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC3-
-
-
-
1Loss-
DNAJC30-
-
-
-
3Gain-
DNAJC6-
-
-
-
1Loss-
DNASE2-
-
-
-
3Gain-
DNASE2B-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNHD1p.R4333G
Missense
SNP
1.000
1Loss-
DNM2-
-
-
-
3Gain-
DNMT1-
-
-
-
3Gain-
DNMT3L-
-
-
-
3Gain-
DNPEP-
-
-
-
1Loss-
DNPH1-
-
-
-
3Gain-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK6-
-
-
-
3Gain-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
3Gain-
DOK3-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DOP1B-
-
-
-
3Gain-
DOT1L-
-
-
-
3Gain-
DPH6p.R75T
Missense
SNP
0.557
2--
DPP8-
-
-
-
3Gain-
DPP9-
-
-
-
3Gain-
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPYSL4-
-
-
-
1Loss-
DRC3p.L94V
Missense
SNP
0.528
2--
DRD1-
-
-
-
3Gain-
DRD3-
-
-
-
3Gain-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DSC3p.L18V
Missense
SNP
0.550
2--
DSCAM-
-
-
-
3Gain-
DSP-
-
-
-
1Loss-
DTHD1-
-
-
-
1Loss-
DTNBP1-
-
-
-
1Loss-
DTWD1-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DTX3L-
-
-
-
3Gain-
DTYMK-
-
-
-
1Loss-
DUS3L-
-
-
-
3Gain-
DUSP22-
-
-
-
1Loss-
DUSP28-
-
-
-
1Loss-
DUSP6-
-
-
-
3Gain-
DUSP8-
-
-
-
1Loss-
DXO-
-
-
-
1Loss-
DYNC1H1p.R2118L
Missense
SNP
0.386
2--
DYNC1LI1-
-
-
-
3Gain-
DYNLT1-
-
-
-
1Loss-
DYRK1A-
-
-
-
3Gain-
DYRK1Bp.E191Q
Missense
SNP
0.557
2--
DYRK2-
-
-
-
3Gain-
DYTN-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
DZIP3-
-
-
-
3Gain-
E2F3-
-
-
-
1Loss-
E2F7-
-
-
-
3Gain-
EAF2-
-
-
-
3Gain-
EARS2-
-
-
-
3Gain-
EBF3-
-
-
-
1Loss-
EBI3-
-
-
-
3Gain-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECEL1-
-
-
-
1Loss-
ECHDC2-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECSIT-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDN1-
-
-
-
1Loss-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
3Gain-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EEF2-
-
-
-
3Gain-
EEF2K-
-
-
-
3Gain-
EEFSEC-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB5p.E1456*
Nonsense
SNP
0.534
2--
EFCAB7-
-
-
-
1Loss-
EFCC1-
-
-
-
3Gain-
EFHB-
-
-
-
3Gain-
EFHD1-
-
-
-
1Loss-
EFL1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EGFL8-
-
-
-
1Loss-
EGFR-
-
-
-
3Gain-
EGLN2-
-
-
-
1Loss-
EHD2-
-
-
-
3Gain-
EHMT2-
-
-
-
1Loss-
EIF1p.Q37H
Missense
SNP
0.405
2--
EIF1B-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2S1-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4E1B-
-
-
-
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
3Gain-
ELAVL2-
-
-
-
3Gain-
ELAVL3-
-
-
-
3Gain-
ELF2-
-
-
-
1Loss-
ELFN1-
-
-
-
4Gain-
ELMO1-
-
-
-
3Gain-
ELMOD2-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOF1-
-
-
-
3Gain-
ELOVL2-
-
-
-
1Loss-
ELSPBP1-
-
-
-
3Gain-
EMILIN3p.V222I
Missense
SNP
0.584
2--
EML2-
-
-
-
3Gain-
EMP2-
-
-
-
3Gain-
ENKUR-
-
-
-
1Loss-
ENPP4-
-
-
-
3Gain-
ENPP5-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTPD1p.L495V
Missense
SNP
0.495
2--
ENTPD3-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
3Gain-
EP400-
-
-
-
3Gain-
EPAS1-
-
-
-
2-EPAS1--PELI1
EPDR1p.R40H
Missense
SNP
0.276
3Gain-
EPHA4-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
3Gain-
EPOR-
-
-
-
3Gain-
EPPIN-WFDC6p.E156K
Missense
SNP
0.496
2--
EPPK1-
-
-
-
3Gain-
EPS15-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERBB3p.E745Q
Missense
SNP
0.292
3Gain-
ERBB4-
-
-
-
1Loss-
ERCC1-
-
-
-
3Gain-
ERCC2-
-
-
-
3Gain-
ERCC4-
-
-
-
3Gain-
ERCC5-
-
-
-
1Loss-
ERCC6L2p.E271K
Missense
SNP
0.659
2--
ERF-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
3Gain-
ERI2-
-
-
-
3Gain-
ERICH2-
-
-
-
1Loss-
ERICH3-
-
-
-
1Loss-
ERICH4-
-
-
-
1Loss-
ERICH6B-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
3Gain-
ERN2-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESPL1p.Q295*
Nonsense
SNP
0.309
3Gain-
ESPNL-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESYT1p.E715K
Missense
SNP
0.385
3Gain-
ETFA-
-
-
-
3Gain-
ETHE1-
-
-
-
3Gain-
ETS2-
-
-
-
3Gain-
ETV7-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5L-
-
-
-
3Gain-
EXOC2-
-
-
-
1Loss-
EXOC3L2-
-
-
-
3Gain-
EXOG-
-
-
-
3Gain-
EXOSC4-
-
-
-
3Gain-
EXOSC5-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F12-
-
-
-
3Gain-
F13A1-
-
-
-
1Loss-
FADS1p.L198R
Missense
DNP
0.440
2--
FAF2-
-
-
-
3Gain-
FAH-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM110B-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM117B-
-
-
-
1Loss-
FAM118A-
-
-
-
3Gain-
FAM120B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM151A-
-
-
-
1Loss-
FAM153A-
-
-
-
3Gain-
FAM153B-
-
-
-
3Gain-
FAM153C-
-
-
-
3Gain-
FAM155A-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM171A1-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM184Bp.Q908*
Nonsense
SNP
1.000
1Loss-
FAM186A-
-
-
-
3Gain-
FAM189A2-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM193B-
-
-
-
3Gain-
FAM198A-
-
-
-
3Gain-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
3Gain-
FAM200B-
-
-
-
1Loss-
FAM207A-
-
-
-
3Gain-
FAM208B-
-
-
-
1Loss-
FAM20C-
-
-
-
4Gain-
FAM214A-
-
-
-
3Gain-
FAM217A-
-
-
-
1Loss-
FAM219B-
-
-
-
3Gain-
FAM21Cp.Q916H
Missense
SNP
0.475
NDND-
FAM220A-
-
-
-
3Gain-
FAM234Ap.S525C
Missense
SNP
0.415
2--
FAM237A-
-
-
-
1Loss-
FAM3B-
-
-
-
3Gain-
FAM50B-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM71D-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM83Ep.L354V
Missense
SNP
0.400
2--
FAM83H-
-
-
-
3Gain-
FAM8A1-
-
-
-
1Loss-
FANCE-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FARSA-
-
-
-
3Gain-
FARSB-
-
-
-
1Loss-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FAT1p.Q725*
Nonsense
SNP
1.000
2--
FAT4-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLN1-
-
-
-
3Gain-
FBN3-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL12-
-
-
-
3Gain-
FBXL18-
-
-
-
3GainFBXL18--ACTB
FBXL2-
-
-
-
3Gain-
FBXL22-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO22-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO46-
-
-
-
3Gain-
FBXO5-
-
-
-
1Loss-
FBXW9-
-
-
-
3Gain-
FCER2-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FDX2-
-
-
-
3Gain-
FEM1A-
-
-
-
3Gain-
FEM1B-
-
-
-
4Gain-
FES-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FGD2-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFR4-
-
-
-
3Gain-
FGFRL1-
-
-
-
1Loss-
FGGY-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FILIP1L-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP5-
-
-
-
1Loss-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKBPL-
-
-
-
1Loss-
FKRP-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLIIp.R431Q
Missense
DNP
0.374
2--
FLOT1-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FLT4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMR1NBp.R58W
Missense
SNP
0.494
NDND-
FN1-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FOCAD-
-
-
-
3Gain-
FOPNL-
-
-
-
3Gain-
FOSB-
-
-
-
3Gain-
FOXA3-
-
-
-
3Gain-
FOXB1-
-
-
-
3Gain-
FOXC1-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXI2-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXP1-
-
-
-
1Loss-
FOXP4-
-
-
-
1Loss-
FOXQ1-
-
-
-
1Loss-
FP565260.1-
-
-
-
3Gain-
FP565260.2-
-
-
-
3Gain-
FP565260.3-
-
-
-
3Gain-
FP565260.4-
-
-
-
3Gain-
FP565260.6-
-
-
-
3Gain-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FREM1-
-
-
-
3Gain-
FREM3-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMPD2p.E80Q
Missense
SNP
0.485
2--
FRS2-
-
-
-
3Gain-
FRS3-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSD1-
-
-
-
3Gain-
FSD2-
-
-
-
3Gain-
FSTL1-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
3Gain-
FTCDNL1-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUT3-
-
-
-
3Gain-
FUT5-
-
-
-
3Gain-
FUT6-
-
-
-
3Gain-
FYB2-
-
-
-
1Loss-
FYNp.D99H
Missense
SNP
0.279
2--
FZD10-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
FZR1-
-
-
-
3Gain-
G6PC2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GABARAPp.E19D
Missense
SNP
0.438
2--
GABBR1-
-
-
-
1Loss-
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
5Amp-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GAD1-
-
-
-
1Loss-
GAD2-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GADD45B-
-
-
-
3Gain-
GADD45GIP1-
-
-
-
3Gain-
GADL1-
-
-
-
3Gain-
GAK-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNT18-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT6-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GATA2-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
3Gain-
GATD3B-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCDH-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCM2-
-
-
-
1Loss-
GCNT2-
-
-
-
1Loss-
GCNT3-
-
-
-
3Gain-
GCOM1-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GDE1-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDI2-
-
-
-
1Loss-
GDPGP1-
-
-
-
3Gain-
GEMIN4p.Q580H
Missense
SNP
0.472
2--
GEMIN7-
-
-
-
3Gain-
GEN1p.S269L
Missense
SNP
0.432
2--
GET4p.S31C
Missense
SNP
0.281
4Gain-
GFOD1-
-
-
-
1Loss-
GFPT2-
-
-
-
3Gain-
GGA2-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
1Loss-
GHRHR-
-
-
-
3Gain-
GIGYF2-
-
-
-
1Loss-
GINM1-
-
-
-
1Loss-
GIPC2-
-
-
-
1Loss-
GIPC3-
-
-
-
3Gain-
GIPR-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJE1p.Y116C
Missense
SNP
0.525
2--
GLB1-
-
-
-
3Gain-
GLB1L-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
4Gain-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
3Gain-
GLO1-
-
-
-
1Loss-
GLP1R-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLYATL3-
-
-
-
3Gain-
GMCL2-
-
-
-
3Gain-
GMDS-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMNN-
-
-
-
1Loss-
GMPPA-
-
-
-
1Loss-
GMPR-
-
-
-
1Loss-
GNA11-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA15-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB5-
-
-
-
3Gain-
GNG12-
-
-
-
1Loss-
GNG14-
-
-
-
3Gain-
GNG5-
-
-
-
1Loss-
GNG7-
-
-
-
3Gain-
GNG8-
-
-
-
3Gain-
GNL1-
-
-
-
1Loss-
GNL2p.E509K
Missense
SNP
0.509
2--
GNMT-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4p.R258Q
p.L442F
Missense
Missense
SNP
SNP
1.000
1.000
3Gain-
GOLGA6B-
-
-
-
4Gain-
GOLGB1p.R1192H
Missense
SNP
0.338
3Gain-
GOLPH3L-
-
-
-
3Gain-
GORASP1-
-
-
-
3Gain-
GP2-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPANK1-
-
-
-
1Loss-
GPBAR1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1L-
-
-
-
3Gain-
GPER1-
-
-
-
4Gain-
GPIHBP1-
-
-
-
3Gain-
GPLD1-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR108-
-
-
-
3Gain-
GPR139-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
4Gain-
GPR15-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
3Gain-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR31-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR4-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR84-
-
-
-
3Gain-
GPR89A-
-
-
-
1Loss-
GPR89B-
-
-
-
3Gain-
GPRC5B-
-
-
-
3Gain-
GPRIN1-
-
-
-
3Gain-
GPSM3-
-
-
-
1Loss-
GPT-
-
-
-
3Gain-
GPX1p.D172H
p.D159H
Missense
Missense
SNP
SNP
1.000
1.000
2--
GPX4-
-
-
-
1Loss-
GPX5-
-
-
-
1Loss-
GPX6-
-
-
-
1Loss-
GPX7-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
4Gain-
GRAMD4-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GRHL3p.R447W
Missense
SNP
0.539
2--
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK5-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRK6-
-
-
-
3Gain-
GRM4-
-
-
-
1Loss-
GRM6-
-
-
-
3Gain-
GRPEL1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSK3A-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSPT1-
-
-
-
3Gain-
GSTO1p.M206I
Missense
SNP
0.447
2--
GTF2A2-
-
-
-
3Gain-
GTF2E1-
-
-
-
3Gain-
GTF2F1-
-
-
-
3Gain-
GTF2H4-
-
-
-
1Loss-
GTF2H5-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTPBP2-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GTSE1-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GUCA1A-
-
-
-
1Loss-
GUCA1B-
-
-
-
1Loss-
GUCA1C-
-
-
-
3Gain-
GUF1-
-
-
-
1Loss-
GUSB-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2BFS-
-
-
-
3Gain-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
3Gain-
HAPLN4p.D316N
Missense
SNP
0.413
2--
HAUS3-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN4-
-
-
-
4Gain-
HDAC10-
-
-
-
3Gain-
HDAC3p.L261V
Missense
SNP
0.444
2--
HDAC4-
-
-
-
1Loss-
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGFL1-
-
-
-
1Loss-
HDGFL2-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HECTD1p.E1878K
p.K1768N
Missense
Missense
SNP
SNP
0.548
0.455
2--
HECW1-
-
-
-
3Gain-
HEG1-
-
-
-
3Gain-
HELB-
-
-
-
3Gain-
HELZp.Q1726*
Nonsense
SNP
0.444
2--
HERC1-
-
-
-
3Gain-
HERC2p.S4062C
Missense
SNP
0.507
2--
HERC4p.Q138H
Missense
SNP
0.482
2--
HERPUD2-
-
-
-
3Gain-
HES6-
-
-
-
1Loss-
HEXA-
-
-
-
4Gain-
HFE-
-
-
-
1Loss-
HGD-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HHATL-
-
-
-
3Gain-
HHIP-
-
-
-
1Loss-
HHLA2-
-
-
-
3Gain-
HHLA3-
-
-
-
1Loss-
HIF3A-
-
-
-
3Gain-
HIGD1A-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIGD2A-
-
-
-
3Gain-
HIGD2B-
-
-
-
4Gain-
HIP1-
-
-
-
3Gain-
HIPK4-
-
-
-
1Loss-
HIST1H1A-
-
-
-
1Loss-
HIST1H1B-
-
-
-
1Loss-
HIST1H1C-
-
-
-
1Loss-
HIST1H1D-
-
-
-
1Loss-
HIST1H1E-
-
-
-
1Loss-
HIST1H1T-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2AB-
-
-
-
1Loss-
HIST1H2AC-
-
-
-
1Loss-
HIST1H2AD-
-
-
-
1Loss-
HIST1H2AE-
-
-
-
1Loss-
HIST1H2AG-
-
-
-
1Loss-
HIST1H2AH-
-
-
-
1Loss-
HIST1H2AI-
-
-
-
1Loss-
HIST1H2AJ-
-
-
-
1Loss-
HIST1H2AK-
-
-
-
1Loss-
HIST1H2AL-
-
-
-
1Loss-
HIST1H2AM-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HIST1H2BB-
-
-
-
1Loss-
HIST1H2BC-
-
-
-
1Loss-
HIST1H2BD-
-
-
-
1Loss-
HIST1H2BE-
-
-
-
1Loss-
HIST1H2BF-
-
-
-
1Loss-
HIST1H2BG-
-
-
-
1Loss-
HIST1H2BH-
-
-
-
1Loss-
HIST1H2BI-
-
-
-
1Loss-
HIST1H2BJ-
-
-
-
1Loss-
HIST1H2BK-
-
-
-
1Loss-
HIST1H2BL-
-
-
-
1Loss-
HIST1H2BM-
-
-
-
1Loss-
HIST1H2BN-
-
-
-
1Loss-
HIST1H2BO-
-
-
-
1Loss-
HIST1H3A-
-
-
-
1Loss-
HIST1H3B-
-
-
-
1Loss-
HIST1H3C-
-
-
-
1Loss-
HIST1H3D-
-
-
-
1Loss-
HIST1H3E-
-
-
-
1Loss-
HIST1H3F-
-
-
-
1Loss-
HIST1H3G-
-
-
-
1Loss-
HIST1H3H-
-
-
-
1Loss-
HIST1H3I-
-
-
-
1Loss-
HIST1H3J-
-
-
-
1Loss-
HIST1H4A-
-
-
-
1Loss-
HIST1H4B-
-
-
-
1Loss-
HIST1H4C-
-
-
-
1Loss-
HIST1H4D-
-
-
-
1Loss-
HIST1H4E-
-
-
-
1Loss-
HIST1H4F-
-
-
-
1Loss-
HIST1H4G-
-
-
-
1Loss-
HIST1H4H-
-
-
-
1Loss-
HIST1H4I-
-
-
-
1Loss-
HIST1H4J-
-
-
-
1Loss-
HIST1H4K-
-
-
-
1Loss-
HIST1H4L-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIVEP1-
-
-
-
1Loss-
HJURP-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
3Gain-
HLA-A-
-
-
-
1Loss-
HLA-B-
-
-
-
1Loss-
HLA-C-
-
-
-
1Loss-
HLA-DMA-
-
-
-
1Loss-
HLA-DMB-
-
-
-
1Loss-
HLA-DOA-
-
-
-
1Loss-
HLA-DOB-
-
-
-
1Loss-
HLA-DPA1-
-
-
-
1Loss-
HLA-DPB1-
-
-
-
1Loss-
HLA-DQA1-
-
-
-
1Loss-
HLA-DQA2-
-
-
-
1Loss-
HLA-DQB1-
-
-
-
1Loss-
HLA-DQB2-
-
-
-
1Loss-
HLA-DRA-
-
-
-
1Loss-
HLA-DRB1-
-
-
-
1Loss-
HLA-DRB5-
-
-
-
1Loss-
HLA-E-
-
-
-
1Loss-
HLA-F-
-
-
-
1Loss-
HLA-G-
-
-
-
1Loss-
HLCS-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMG20A-
-
-
-
3Gain-
HMG20B-
-
-
-
3Gain-
HMGA1-
-
-
-
1Loss-
HMGA2-
-
-
-
3Gain-
HMGN1-
-
-
-
3Gain-
HMGN4-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HNF4Gp.S157*
Nonsense
SNP
0.396
2--
HNRNPA1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
3Gain-
HNRNPH1-
-
-
-
3Gain-
HNRNPMp.L142V
Missense
SNP
0.254
3Gain-
HNRNPUL1-
-
-
-
1Loss-
HNRNPUL2p.P635L
Missense
SNP
0.537
2--
HOMER2p.R81K
Missense
SNP
0.318
3Gain-
HOOK1-
-
-
-
1Loss-
HOOK2-
-
-
-
3Gain-
HORMAD1p.S376F
Missense
SNP
0.281
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRH2-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HS3ST2-
-
-
-
3Gain-
HS3ST4-
-
-
-
3Gain-
HS6ST3-
-
-
-
1Loss-
HSD11B1L-
-
-
-
3Gain-
HSD17B6-
-
-
-
3Gain-
HSD17B8-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSF2BP-
-
-
-
3Gain-
HSP90AB1-
-
-
-
3Gain-
HSPA14-
-
-
-
1Loss-
HSPA1A-
-
-
-
1Loss-
HSPA1B-
-
-
-
1Loss-
HSPA1L-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB11-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HUS1B-
-
-
-
1Loss-
HYKK-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICA1L-
-
-
-
1Loss-
ICAM1-
-
-
-
3Gain-
ICAM3-
-
-
-
3Gain-
ICAM4-
-
-
-
3Gain-
ICAM5-
-
-
-
3Gain-
ICE2-
-
-
-
3Gain-
ICOS-
-
-
-
1Loss-
ICOSLG-
-
-
-
3Gain-
ID4-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDH3A-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER2-
-
-
-
3Gain-
IER3-
-
-
-
1Loss-
IFI35p.E225K
Missense
SNP
0.452
2--
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNK-
-
-
-
3Gain-
IFNW1-
-
-
-
3Gain-
IFT122-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2R-
-
-
-
1Loss-
IGFBP1-
-
-
-
3Gain-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
3Gain-
IGFBP5-
-
-
-
1Loss-
IGFBP6-
-
-
-
3Gain-
IGFL1-
-
-
-
3Gain-
IGFL2-
-
-
-
3Gain-
IGFL3-
-
-
-
3Gain-
IGFL4-
-
-
-
3Gain-
IGFN1p.V3645I
Missense
SNP
0.474
2--
IGSF11-
-
-
-
3Gain-
IGSF5-
-
-
-
3Gain-
IGSF6-
-
-
-
3Gain-
IHH-
-
-
-
1Loss-
IKZF1-
-
-
-
3Gain-
IKZF2-
-
-
-
1Loss-
IKZF4-
-
-
-
3Gain-
IL12RB2-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL16-
-
-
-
3Gain-
IL17REL-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL23R-
-
-
-
1Loss-
IL26-
-
-
-
3Gain-
IL2RA-
-
-
-
1Loss-
IL33-
-
-
-
3Gain-
ILDR1-
-
-
-
3Gain-
ILF3-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMP3-
-
-
-
3Gain-
IMPAD1-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
INAFM1-
-
-
-
3Gain-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80Dp.A652D
Missense
SNP
0.129
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5A-
-
-
-
1Loss-
INPP5Dp.Q857E
Missense
SNP
1.000
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
3Gain-
INSR-
-
-
-
3Gain-
INSYN1-
-
-
-
4Gain-
INSYN2-
-
-
-
1Loss-
INTS1-
-
-
-
4Gain-
INTS14-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IP6K3-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCH-
-
-
-
4Gain-
IQCK-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IREB2-
-
-
-
3Gain-
IRF2BP1-
-
-
-
3Gain-
IRF4-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRGC-
-
-
-
3Gain-
IRGQ-
-
-
-
3Gain-
IRS1-
-
-
-
1Loss-
IRX5p.L106R
Missense
SNP
0.470
2--
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
4Gain-
ISLR2-
-
-
-
4Gain-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
4Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA8-
-
-
-
1Loss-
ITGA9-
-
-
-
3Gain-
ITGB2-
-
-
-
3Gain-
ITGB3BP-
-
-
-
1Loss-
ITGB5-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH4p.E143K
Missense
SNP
1.000
2--
ITIH5-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPKC-
-
-
-
1Loss-
ITPR3-
-
-
-
1Loss-
ITPRID1-
-
-
-
3Gain-
ITPRIPL2-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
IZUMO3-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAGN1p.P93S
Missense
SNP
0.393
2--
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAKMIP1-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JARID2-
-
-
-
1Loss-
JCAD-
-
-
-
5Amp-
JRK-
-
-
-
3Gain-
JSRP1-
-
-
-
3Gain-
JUN-
-
-
-
1Loss-
JUNB-
-
-
-
3Gain-
KAAG1-
-
-
-
1Loss-
KALRN-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANK2-
-
-
-
3Gain-
KANK3-
-
-
-
3Gain-
KANK4-
-
-
-
1Loss-
KANSL1L-
-
-
-
1Loss-
KAT2B-
-
-
-
3Gain-
KATNA1-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
3Gain-
KCNE4-
-
-
-
1Loss-
KCNH8-
-
-
-
3Gain-
KCNIP4-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ6-
-
-
-
3Gain-
KCNK16-
-
-
-
1Loss-
KCNK17-
-
-
-
1Loss-
KCNK5-
-
-
-
1Loss-
KCNK9-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNN4-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNV2-
-
-
-
3Gain-
KCTD12-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD20-
-
-
-
1Loss-
KCTD7-
-
-
-
3Gain-
KCTD8-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDM1B-
-
-
-
1Loss-
KDM4B-
-
-
-
3Gain-
KDM4C-
-
-
-
3Gain-
KDM8-
-
-
-
3Gain-
KEAP1-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KHSRP-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0319-
-
-
-
1Loss-
KIAA0408p.G629E
Missense
SNP
0.471
2--
KIAA0895-
-
-
-
3Gain-
KIAA1024-
-
-
-
3Gain-
KIAA1107p.Q969*
Nonsense
SNP
0.468
NDND-
KIAA1191-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA2012-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF13A-
-
-
-
1Loss-
KIF1Ap.R1259L
Missense
SNP
1.000
1Loss-
KIF23-
-
-
-
4Gain-
KIF25-
-
-
-
1Loss-
KIF5A-
-
-
-
3Gain-
KIF6-
-
-
-
1Loss-
KIF7p.E1023K
Missense
SNP
0.647
2--
KIFC1-
-
-
-
1Loss-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KITLG-
-
-
-
3Gain-
KLB-
-
-
-
1Loss-
KLC3-
-
-
-
3Gain-
KLC4-
-
-
-
1Loss-
KLF1-
-
-
-
3Gain-
KLF12-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC3-
-
-
-
1Loss-
KLHDC7B-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL23-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL40-
-
-
-
3Gain-
KLHL41-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL9-
-
-
-
3Gain-
KMT2Dp.S3713*
p.Q3471H
Nonsense
Missense
SNP
SNP
0.380
0.436
2--
KMT2Ep.Q1764E
Missense
SNP
0.998
2--
KNDC1-
-
-
-
1Loss-
KNOP1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KPTN-
-
-
-
3Gain-
KRBOX1-
-
-
-
3Gain-
KRI1-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT14-
-
-
-
2-RNA5-8SN2--KRT14
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3GainRNA5-8SN2--KRT5
KRT6Ap.D411N
Missense
SNP
0.364
3GainKRT6A--RNA5-8SN2
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84p.E264Q
Missense
SNP
0.342
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5-
-
-
-
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KTI12-
-
-
-
1Loss-
KY-
-
-
-
3Gain-
L1TD1-
-
-
-
1Loss-
L34079.1-
-
-
-
3Gain-
L3MBTL2p.S391L
Missense
SNP
0.463
2--
LACRT-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
3Gain-
LAP3-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4-
-
-
-
3Gain-
LARP4B-
-
-
-
1Loss-
LARP6-
-
-
-
4Gain-
LAT2-
-
-
-
3Gain-
LATS1-
-
-
-
1Loss-
LCA5L-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT1-
-
-
-
3Gain-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCTL-
-
-
-
3Gain-
LDB2-
-
-
-
1Loss-
LDHAL6B-
-
-
-
3Gain-
LDLR-
-
-
-
3Gain-
LDLRAD1-
-
-
-
1Loss-
LEMD2-
-
-
-
1Loss-
LEMD3-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LETMD1-
-
-
-
3Gain-
LEXM-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGI2-
-
-
-
1Loss-
LGR5-
-
-
-
3Gain-
LHFPL5-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIG1-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LIMA1-
-
-
-
3Gain-
LIMCH1-
-
-
-
1Loss-
LIMK1-
-
-
-
3Gain-
LIN7A-
-
-
-
3Gain-
LINC01698-
-
-
-
NDNDMIR205HG--LINC01698
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LINGO3-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPE-
-
-
-
1Loss-
LITAF-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMAN1L-
-
-
-
3Gain-
LMAN2-
-
-
-
3Gain-
LMF2-
-
-
-
3Gain-
LMNB2-
-
-
-
3Gain-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LONP1-
-
-
-
3Gain-
LOXL1-
-
-
-
4Gain-
LPA-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRCOL1-
-
-
-
3Gain-
LRFN2-
-
-
-
1Loss-
LRG1-
-
-
-
3Gain-
LRIG3-
-
-
-
3Gain-
LRMPp.S313F
Missense
SNP
0.468
2--
LRP1-
-
-
-
3Gain-
LRP11-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP8-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRRC10-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC19-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC27-
-
-
-
1Loss-
LRRC3-
-
-
-
3Gain-
LRRC3B-
-
-
-
3Gain-
LRRC40-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC49-
-
-
-
4Gain-
LRRC53-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC73-
-
-
-
3Gain-
LRRC8E-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
3Gain-
LRRIQ1-
-
-
-
3Gain-
LRRIQ3-
-
-
-
1Loss-
LRRN3p.Q667H
Missense
SNP
1.000
2--
LSAMP-
-
-
-
3Gain-
LSM2-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM7-
-
-
-
3Gain-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
3Gain-
LST1-
-
-
-
1Loss-
LTA-
-
-
-
1Loss-
LTB-
-
-
-
1Loss-
LTBP4-
-
-
-
1Loss-
LTC4S-
-
-
-
3Gain-
LTFp.I228M
Missense
SNP
1.000
2--
LUM-
-
-
-
3Gain-
LURAP1L-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6G5B-
-
-
-
1Loss-
LY6G5C-
-
-
-
1Loss-
LY6G6C-
-
-
-
1Loss-
LY6G6D-
-
-
-
1Loss-
LY6G6E-
-
-
-
1Loss-
LY6G6F-
-
-
-
1Loss-
LY6G6F-LY6G6D-
-
-
-
1Loss-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY86-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LYL1-
-
-
-
3Gain-
LYN-
-
-
-
1Loss-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD3-
-
-
-
3Gain-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYRM1-
-
-
-
3Gain-
LYRM4-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LYZ-
-
-
-
3Gain-
LYZL1-
-
-
-
5Amp-
LYZL2-
-
-
-
3Gain-
LYZL4-
-
-
-
3Gain-
MAATS1-
-
-
-
3Gain-
MAB21L2-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFK-
-
-
-
4Gain-
MAGED2p.Q193E
Missense
SNP
0.378
NDND-
MAGI2-
-
-
-
3Gain-
MAGOH-
-
-
-
1Loss-
MAIP1-
-
-
-
1Loss-
MAK-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MAML1-
-
-
-
3Gain-
MAML3-
-
-
-
1Loss-
MAN2A2-
-
-
-
3Gain-
MAN2B1-
-
-
-
3Gain-
MAN2B2-
-
-
-
1Loss-
MAN2C1-
-
-
-
3Gain-
MAP1Ap.E1062Q
Missense
SNP
0.486
2--
MAP2-
-
-
-
1Loss-
MAP2K1-
-
-
-
3Gain-
MAP2K2-
-
-
-
3Gain-
MAP2K5-
-
-
-
4Gain-
MAP2K7-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K8-
-
-
-
5Amp-
MAP7D3p.R711S
Missense
SNP
0.505
NDND-
MAPK1p.R135K
Missense
SNP
0.490
2--
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK13-
-
-
-
1Loss-
MAPK14-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK6-
-
-
-
3Gain-
MAPK8IP2-
-
-
-
3Gain-
MAPK9-
-
-
-
3Gain-
MARCH2-
-
-
-
3Gain-
MARCH4-
-
-
-
1Loss-
MARCH9-
-
-
-
3Gain-
MARF1-
-
-
-
3Gain-
MARK4-
-
-
-
3Gain-
MARS-
-
-
-
3Gain-
MARS2-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
1Loss-
MAST1-
-
-
-
3Gain-
MASTL-
-
-
-
1Loss-
MATK-
-
-
-
3Gain-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
3Gain-
MBD3L2-
-
-
-
3Gain-
MBD3L2B-
-
-
-
3Gain-
MBD3L3-
-
-
-
3Gain-
MBD3L4-
-
-
-
3Gain-
MBD3L5-
-
-
-
3Gain-
MBD4-
-
-
-
3Gain-
MBD5p.E454Q
p.D1407N
Missense
Missense
SNP
SNP
0.444
0.454
2--
MBD6-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBOAT1-
-
-
-
1Loss-
MCCD1-
-
-
-
1Loss-
MCEMP1-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM3AP-
-
-
-
3Gain-
MCOLN1-
-
-
-
3Gain-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCTP2-
-
-
-
3Gain-
MCUR1-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFI-
-
-
-
1Loss-
MDGA1-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDH2-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MEA1-
-
-
-
1Loss-
MED12p.P1818S
Missense
SNP
0.605
NDND-
MED16-
-
-
-
1Loss-
MED20-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MEGF11-
-
-
-
3Gain-
MEGF8-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MEIS3-
-
-
-
3Gain-
MEP1A-
-
-
-
3Gain-
MEP1Bp.R553K
Missense
SNP
0.554
2--
MESD-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL25-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL5-
-
-
-
1Loss-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL9-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MFSD5-
-
-
-
3Gain-
MFSD8-
-
-
-
1Loss-
MGARP-
-
-
-
1Loss-
MGAT1-
-
-
-
3Gain-
MGAT4B-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGAT4D-
-
-
-
1Loss-
MGLL-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MICA-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICALL2-
-
-
-
4Gain-
MICB-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER2p.E48K
Missense
SNP
1.000
1Loss-
MIGA1-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MIR205HG-
-
-
-
NDNDMIR205HG--LINC01698
MISP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKI67p.R3248T
Missense
SNP
1.000
1Loss-
MKL2p.Q629*
Nonsense
SNP
0.292
NDND-
MKNK2-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLANA-
-
-
-
3Gain-
MLC1-
-
-
-
3Gain-
MLH1-
-
-
-
3Gain-
MLKLp.E435*
Nonsense
SNP
0.531
2--
MLLT1-
-
-
-
3Gain-
MLLT10-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLN-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MMAA-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP21-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP9p.D226H
Missense
SNP
0.460
2--
MNAT1p.I253M
Missense
SNP
0.458
2--
MNS1-
-
-
-
3Gain-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOB4-
-
-
-
1Loss-
MOBP-
-
-
-
3Gain-
MOCS1-
-
-
-
1Loss-
MOG-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MON2-
-
-
-
3Gain-
MORC1-
-
-
-
3Gain-
MORC3-
-
-
-
3Gain-
MORF4L1-
-
-
-
3Gain-
MOS-
-
-
-
1Loss-
MOSMO-
-
-
-
3Gain-
MOV10L1-
-
-
-
3Gain-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPI-
-
-
-
3Gain-
MPIG6B-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPND-
-
-
-
3Gain-
MPP4-
-
-
-
1Loss-
MPP5-
-
-
-
3Gain-
MPP7-
-
-
-
1Loss-
MPV17L-
-
-
-
3Gain-
MRC1-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MRNIP-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MRPL14-
-
-
-
3Gain-
MRPL15-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL2-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL37-
-
-
-
1Loss-
MRPL4-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL44-
-
-
-
1Loss-
MRPL54-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS18A-
-
-
-
3Gain-
MRPS18B-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRS2-
-
-
-
1Loss-
MRTFB-
-
-
-
3Gain-
MRVI1-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSH5p.E49K
Missense
SNP
1.000
1Loss-
MSH5-SAPCD1-
-
-
-
1Loss-
MSL2-
-
-
-
3Gain-
MSRB2-
-
-
-
1Loss-
MSRB3-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MSX2-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTCH1-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTFMT-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTHFS-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTPAP-
-
-
-
5Amp-
MTRF1L-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MUC13-
-
-
-
3Gain-
MUC16p.S9245L
Missense
SNP
0.327
3Gain-
MUC2-
-
-
-
1Loss-
MUC21-
-
-
-
1Loss-
MUC22-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUCL1-
-
-
-
3Gain-
MUCL3-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUT-
-
-
-
3Gain-
MX1-
-
-
-
3Gain-
MX2-
-
-
-
3Gain-
MXD3-
-
-
-
3Gain-
MXD4-
-
-
-
1Loss-
MYCBP2-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYD88-
-
-
-
3Gain-
MYDGF-
-
-
-
3Gain-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH1p.P714T
Missense
SNP
0.470
2--
MYH11-
-
-
-
3Gain-
MYH13p.N937S
Missense
SNP
0.497
2--
MYH15-
-
-
-
3Gain-
MYL1-
-
-
-
1Loss-
MYL5-
-
-
-
1Loss-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLIP-
-
-
-
1Loss-
MYLK-
-
-
-
3Gain-
MYLK4-
-
-
-
1Loss-
MYMX-
-
-
-
3Gain-
MYO16-
-
-
-
1LossCOG3--MYO16
MYO1A-
-
-
-
3Gain-
MYO1E-
-
-
-
3Gain-
MYO1F-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
1Loss-
MYO5A-
-
-
-
3Gain-
MYO5Cp.K167N
Missense
SNP
0.299
3Gain-
MYO9A-
-
-
-
4Gain-
MYOD1p.E77K
Missense
SNP
1.000
1Loss-
MYPOP-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MYRIP-
-
-
-
3Gain-
MYSM1-
-
-
-
1Loss-
MYZAP-
-
-
-
3Gain-
MZF1-
-
-
-
3Gain-
MZT1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP3-
-
-
-
3Gain-
NAA15-
-
-
-
1Loss-
NAA35-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NACC1-
-
-
-
3Gain-
NALCN-
-
-
-
1Loss-
NANOS2-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L4-
-
-
-
1Loss-
NAPA-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NAT8L-
-
-
-
1Loss-
NAV3-
-
-
-
3Gain-
NBEAL1-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
1Loss-
NBPF9-
-
-
-
3Gain-
NCAPG-
-
-
-
1Loss-
NCAPH2-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5p.D244H
Missense
SNP
0.535
2--
NCL-
-
-
-
1Loss-
NCLN-
-
-
-
3Gain-
NCOA6p.Q892H
Missense
SNP
0.544
2--
NCR2-
-
-
-
1Loss-
NCR3-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NDC1-
-
-
-
1Loss-
NDE1-
-
-
-
3Gain-
NDFIP2-
-
-
-
1Loss-
NDRG1p.E240Q
Missense
SNP
0.562
2--
NDUFA10-
-
-
-
1Loss-
NDUFA11-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA7-
-
-
-
3Gain-
NDUFAB1-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB6-
-
-
-
3Gain-
NDUFC1-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECTIN2-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEDD9-
-
-
-
1Loss-
NEGR1-
-
-
-
1Loss-
NEIL1-
-
-
-
3Gain-
NEK10-
-
-
-
3Gain-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NELFE-
-
-
-
1Loss-
NEMP1-
-
-
-
3Gain-
NEO1-
-
-
-
4Gain-
NEPRO-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NEU1-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEUROD4-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NEXN-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
3Gain-
NFIC-
-
-
-
3Gain-
NFIX-
-
-
-
3Gain-
NFKBIE-
-
-
-
3Gain-
NFKBIL1-
-
-
-
1Loss-
NFKBIZ-
-
-
-
3Gain-
NFXL1-
-
-
-
1Loss-
NFYA-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGLY1-
-
-
-
3Gain-
NGRN-
-
-
-
3Gain-
NHEJ1-
-
-
-
1Loss-
NHLRC1-
-
-
-
1Loss-
NHP2-
-
-
-
3Gain-
NIF3L1-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NIT2-
-
-
-
3Gain-
NKAIN3-
-
-
-
1Loss-
NKAPL-
-
-
-
1Loss-
NKD2p.E76K
Missense
SNP
0.495
2--
NKIRAS1-
-
-
-
3Gain-
NKPD1-
-
-
-
3Gain-
NKTR-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NME7p.S70F
Missense
SNP
0.434
2--
NME8-
-
-
-
3Gain-
NMRK2-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NOC4L-
-
-
-
3Gain-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NOL7-
-
-
-
1Loss-
NOL8-
-
-
-
3Gain-
NOMO1-
-
-
-
3Gain-
NOMO2-
-
-
-
3Gain-
NOMO3-
-
-
-
3Gain-
NOP14-
-
-
-
1Loss-
NOP16-
-
-
-
3Gain-
NOP53-
-
-
-
3Gain-
NOP58-
-
-
-
1Loss-
NOSTRIN-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH4-
-
-
-
1Loss-
NOVA2-
-
-
-
3Gain-
NOX3-
-
-
-
1Loss-
NOX5-
-
-
-
4Gain-
NPAS1-
-
-
-
3Gain-
NPBWR1-
-
-
-
1Loss-
NPC1L1-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPIPB2-
-
-
-
3Gain-
NPIPB3-
-
-
-
3Gain-
NPIPB4-
-
-
-
3Gain-
NPIPB5-
-
-
-
3Gain-
NPIPP1-
-
-
-
NDNDAFF1--NPIPP1
NPPC-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
4Gain-
NQO2-
-
-
-
1Loss-
NR1D1p.S85F
Missense
SNP
0.463
2--
NR1D2-
-
-
-
3Gain-
NR1I2-
-
-
-
3Gain-
NR2E3-
-
-
-
4Gain-
NR2F2-
-
-
-
3Gain-
NR3C2-
-
-
-
1Loss-
NR4A1-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRDC-
-
-
-
1Loss-
NRG4-
-
-
-
3Gain-
NRIP3-
-
-
-
1Loss-
NRKp.H1408Y
Missense
SNP
0.367
NDND-
NRM-
-
-
-
1Loss-
NRN1-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRSN1-
-
-
-
1Loss-
NRTN-
-
-
-
3Gain-
NSD1-
-
-
-
3Gain-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSG2-
-
-
-
3Gain-
NSMAF-
-
-
-
1Loss-
NSMCE1-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NSUN7-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NTAN1-
-
-
-
3Gain-
NTMT1-
-
-
-
1Loss-
NTRK1p.A24G
Missense
SNP
0.529
2--
NTS-
-
-
-
3Gain-
NUBP1-
-
-
-
3Gain-
NUCB2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT3-
-
-
-
1Loss-
NUDT4-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP107-
-
-
-
3Gain-
NUP153-
-
-
-
1Loss-
NUP160p.Q507*
Nonsense
SNP
0.506
2--
NUP214p.D103N
Missense
SNP
0.461
2--
NUP43-
-
-
-
1Loss-
NUP98p.K1178R
Missense
SNP
1.000
1Loss-
NUPR2-
-
-
-
3Gain-
NWD2-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NYAP2-
-
-
-
1Loss-
OARD1-
-
-
-
1Loss-
OAZ1-
-
-
-
3Gain-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCNp.R2726W
Missense
SNP
0.552
2--
OBSL1-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
ODF2L-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
3Gain-
ODF3L1-
-
-
-
3Gain-
ODF3L2-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFM2-
-
-
-
3Gain-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OMA1-
-
-
-
1Loss-
ONECUT1-
-
-
-
3Gain-
ONECUT3-
-
-
-
1Loss-
OPA3-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN5-
-
-
-
3Gain-
OPRK1-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10A7-
-
-
-
3Gain-
OR10C1-
-
-
-
1Loss-
OR10P1-
-
-
-
3Gain-
OR10Q1p.G154V
Missense
SNP
0.586
2--
OR11A1-
-
-
-
1Loss-
OR12D2-
-
-
-
1Loss-
OR12D3-
-
-
-
1Loss-
OR14J1-
-
-
-
1Loss-
OR1M1-
-
-
-
3Gain-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AP1-
-
-
-
3Gain-
OR2B2-
-
-
-
1Loss-
OR2B3-
-
-
-
1Loss-
OR2B6-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2H1-
-
-
-
1Loss-
OR2H2-
-
-
-
1Loss-
OR2J1-
-
-
-
1Loss-
OR2J2-
-
-
-
1Loss-
OR2J3-
-
-
-
1Loss-
OR2V1-
-
-
-
3Gain-
OR2V2-
-
-
-
3Gain-
OR2W1-
-
-
-
1Loss-
OR2Y1-
-
-
-
3Gain-
OR2Z1-
-
-
-
3Gain-
OR4F17-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5AC2-
-
-
-
3Gain-
OR5D14p.T20A
Missense
SNP
0.508
2--
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1p.M81I
Missense
SNP
0.330
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5V1-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR7A17p.I78M
Missense
SNP
0.419
2--
OR7D2-
-
-
-
3Gain-
OR7D4-
-
-
-
3Gain-
OR7E24-
-
-
-
3Gain-
OR7E47P-
-
-
-
3Gain-
OR7G1-
-
-
-
3Gain-
OR7G2-
-
-
-
3Gain-
OR7G3-
-
-
-
3Gain-
OR8K3p.L157I
Missense
SNP
0.510
2--
OR9K2-
-
-
-
3Gain-
ORC1-
-
-
-
1Loss-
ORC2-
-
-
-
1Loss-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL10-
-
-
-
3Gain-
OSBPL11-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
1Loss-
OTOA-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2p.R210H
Missense
SNP
1.000
2--
OTOS-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXSM-
-
-
-
3Gain-
OXSR1-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
P2RY11-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PABPC4L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACSIN1-
-
-
-
1Loss-
PADI3p.S53C
Missense
SNP
0.530
2--
PAFAH1B3-
-
-
-
1Loss-
PAK1IP1-
-
-
-
1Loss-
PALB2-
-
-
-
3Gain-
PALM-
-
-
-
1Loss-
PALM2-AKAP2p.S951F
Missense
SNP
0.432
2--
PAN2-
-
-
-
3Gain-
PANX2-
-
-
-
3Gain-
PAOX-
-
-
-
1Loss-
PAPD5p.A107T
Missense
SNP
0.498
NDND-
PAPOLB-
-
-
-
3Gain-
PAPPA2p.V1713E
Missense
SNP
0.394
2--
PAQR5-
-
-
-
4Gain-
PARD3B-
-
-
-
1Loss-
PARN-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP16-
-
-
-
3Gain-
PARP6-
-
-
-
4Gain-
PARP9-
-
-
-
3Gain-
PARS2-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATJ-
-
-
-
1Loss-
PAWR-
-
-
-
3Gain-
PAX3-
-
-
-
1Loss-
PBX2-
-
-
-
1Loss-
PCBP2-
-
-
-
3Gain-
PCBP3-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH10-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH18-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHB1p.S259P
Missense
SNP
0.515
2--
PCDHGA5p.D40N
Missense
SNP
0.612
2--
PCF11p.E388*
Nonsense
SNP
0.467
2--
PCGF3-
-
-
-
1Loss-
PCLAF-
-
-
-
3Gain-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCNP-
-
-
-
3Gain-
PCNT-
-
-
-
3Gain-
PCP2-
-
-
-
3Gain-
PCP4-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCSK9-
-
-
-
1Loss-
PDCD1-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
3Gain-
PDCD2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
3Gain-
PDCD7-
-
-
-
3Gain-
PDE10A-
-
-
-
1Loss-
PDE1B-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
3Gain-
PDE4B-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6B-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE9A-
-
-
-
3Gain-
PDGFA-
-
-
-
4Gain-
PDIA5-
-
-
-
3Gain-
PDILT-
-
-
-
3Gain-
PDLIM7-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDXDC1-
-
-
-
3Gain-
PDXK-
-
-
-
3Gain-
PDZD2p.R928W
Missense
SNP
0.463
2--
PDZD9-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEAK1-
-
-
-
3Gain-
PEAK3-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PELI1-
-
-
-
2-EPAS1--PELI1
PENK-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PET100-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX11G-
-
-
-
3Gain-
PEX6-
-
-
-
1Loss-
PFDN5-
-
-
-
3Gain-
PFDN6-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKL-
-
-
-
3Gain-
PFKP-
-
-
-
1Loss-
PFN3-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGBD1-
-
-
-
1Loss-
PGC-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGK2-
-
-
-
3Gain-
PGLYRP1-
-
-
-
3Gain-
PGM1-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHACTR1-
-
-
-
1Loss-
PHETA1-
-
-
-
3Gain-
PHF1-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF2p.E862Q
Missense
SNP
0.484
2--
PHKG1-
-
-
-
3Gain-
PHLDA1-
-
-
-
3Gain-
PHLDA2-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLDB3-
-
-
-
3Gain-
PHOSPHO2-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYKPL-
-
-
-
3Gain-
PI16-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS1-
-
-
-
4Gain-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGP-
-
-
-
3Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3R4-
-
-
-
3Gain-
PIKFYVEp.R1518K
Missense
SNP
1.000
1Loss-
PIM1-
-
-
-
1Loss-
PIM3-
-
-
-
3Gain-
PIN1-
-
-
-
3Gain-
PINLYP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4K2C-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
3Gain-
PITRM1-
-
-
-
1Loss-
PIWIL1-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKDREJ-
-
-
-
3Gain-
PKMp.S402*
Nonsense
SNP
0.226
4Gain-
PKNOX1-
-
-
-
3Gain-
PKP3-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G10-
-
-
-
3Gain-
PLA2G4Ap.E734K
Missense
SNP
0.595
2--
PLA2G4C-
-
-
-
3Gain-
PLA2G7-
-
-
-
3Gain-
PLAA-
-
-
-
3Gain-
PLAG1-
-
-
-
1Loss-
PLAUR-
-
-
-
3Gain-
PLCB3p.E779G
Missense
SNP
0.497
2--
PLCD1-
-
-
-
3Gain-
PLCD3p.E158Q
Missense
SNP
0.553
2--
PLCD4-
-
-
-
1Loss-
PLCL1-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLD3-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEK2-
-
-
-
3Gain-
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
3Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHG7-
-
-
-
3Gain-
PLEKHH1-
-
-
-
3Gain-
PLEKHH2p.I479R
Missense
SNP
0.482
2--
PLEKHJ1-
-
-
-
3Gain-
PLEKHM3-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
3Gain-
PLIN1p.G149W
Missense
SNP
0.522
2--
PLIN2-
-
-
-
3Gain-
PLIN3-
-
-
-
3Gain-
PLIN4-
-
-
-
3Gain-
PLIN5-
-
-
-
3Gain-
PLK1-
-
-
-
3Gain-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP3-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLPPR2-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLRG1p.E67Q
Missense
SNP
1.000
2--
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNB2-
-
-
-
3Gain-
PLXNC1-
-
-
-
3Gain-
PLXND1-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMLp.P581S
Missense
SNP
0.692
4Gain-
PMS2-
-
-
-
3Gain-
PNKD-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNMA8A-
-
-
-
3Gain-
PNMA8B-
-
-
-
3Gain-
PNPLA1-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODN-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POFUT2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLH-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLN-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1C-
-
-
-
3Gain-
POLR2E-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
3Gain-
POLR3Cp.E76K
Missense
SNP
0.255
3Gain-
POLR3E-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
5Amp-
POM121L2-
-
-
-
1Loss-
POMGNT2-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
POP7p.G9S
Missense
SNP
1.000
2--
POPDC2-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POU1F1-
-
-
-
1Loss-
POU2F2-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU4F2-
-
-
-
1Loss-
POU5F1-
-
-
-
1Loss-
POU6F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
3Gain-
PPAN-
-
-
-
3Gain-
PPAN-P2RY11-
-
-
-
3Gain-
PPARA-
-
-
-
3Gain-
PPARD-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPCDC-
-
-
-
3Gain-
PPFIA2-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIG-
-
-
-
1Loss-
PPIL1-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPM1H-
-
-
-
3Gain-
PPM1Lp.D219N
Missense
SNP
0.505
2--
PPM1N-
-
-
-
3Gain-
PPP1R10-
-
-
-
1Loss-
PPP1R11-
-
-
-
1Loss-
PPP1R12A-
-
-
-
3Gain-
PPP1R13L-
-
-
-
3Gain-
PPP1R14C-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R18-
-
-
-
1Loss-
PPP1R1A-
-
-
-
3Gain-
PPP1R37-
-
-
-
3Gain-
PPP1R3G-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP2R5Bp.Q53*
Nonsense
SNP
0.333
2--
PPP2R5D-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP5C-
-
-
-
3Gain-
PPP5D1-
-
-
-
3Gain-
PPP6R2-
-
-
-
3Gain-
PPT2-
-
-
-
1Loss-
PPT2-EGFL8-
-
-
-
1Loss-
PQLC2p.F162I
Missense
SNP
0.457
2--
PRAM1-
-
-
-
3Gain-
PRAMEF12p.Q261E
Missense
SNP
0.521
2--
PRAP1-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCCp.E406K
Missense
SNP
0.477
2--
PRDM15-
-
-
-
3Gain-
PRDX2-
-
-
-
3Gain-
PRELID1-
-
-
-
3Gain-
PREX2p.L267V
Missense
SNP
1.000
2--
PRICKLE4-
-
-
-
1Loss-
PRIM1-
-
-
-
3Gain-
PRKAA2-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR1B-
-
-
-
4Gain-
PRKCB-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKCSH-
-
-
-
3Gain-
PRKD1p.I123M
p.I123F
Missense
Missense
SNP
SNP
0.410
0.417
2--
PRKD2-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRL-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRM1-
-
-
-
3Gain-
PRM2-
-
-
-
3Gain-
PRM3-
-
-
-
3Gain-
PRMT2-
-
-
-
3Gain-
PRMT9-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROP1-
-
-
-
3Gain-
PROS1-
-
-
-
3Gain-
PROSER1p.D919H
Missense
SNP
0.464
2--
PROSER2-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
1Loss-
PRPF4B-
-
-
-
1Loss-
PRPF6-
-
-
-
2-SNHG1--PRPF6
PRPH2-
-
-
-
1Loss-
PRR12p.P653T
Missense
SNP
0.474
2--
PRR13-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR18-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRR3-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
3Gain-
PRR7-
-
-
-
3Gain-
PRRC2A-
-
-
-
1Loss-
PRRT1-
-
-
-
1Loss-
PRSS16-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRX-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSG1-
-
-
-
0Del-
PSG11-
-
-
-
0Del-
PSG2-
-
-
-
0Del-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
0Del-
PSG5-
-
-
-
0Del-
PSG6-
-
-
-
0Del-
PSG7-
-
-
-
0Del-
PSG8-
-
-
-
0Del-
PSG9-
-
-
-
0Del-
PSIP1-
-
-
-
3Gain-
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA3p.E249K
Missense
SNP
0.443
2--
PSMA4-
-
-
-
3Gain-
PSMB1-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB8-
-
-
-
1Loss-
PSMB9-
-
-
-
1Loss-
PSMC1p.K16N
Missense
SNP
0.450
2--
PSMD1-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMG1-
-
-
-
3Gain-
PSMG3-
-
-
-
4Gain-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
1Loss-
PSORS1C2-
-
-
-
1Loss-
PSPH-
-
-
-
3Gain-
PSPN-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTCHD4-
-
-
-
3Gain-
PTCRA-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGER3-
-
-
-
1Loss-
PTGES3-
-
-
-
3Gain-
PTGFR-
-
-
-
1Loss-
PTGIR-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK7-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN21p.L931F
Missense
SNP
0.464
2--
PTPN9-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRD-
-
-
-
3Gain-
PTPRE-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRS-
-
-
-
3Gain-
PTTG1IP-
-
-
-
3Gain-
PTTG2-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PUM3-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PWP2-
-
-
-
3Gain-
PWWP2B-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXDNL-
-
-
-
1Loss-
PXMP2-
-
-
-
3Gain-
PXT1-
-
-
-
1Loss-
PYCR3-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
QDPR-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QPCTL-
-
-
-
3Gain-
QTRT1-
-
-
-
3Gain-
QTRT2-
-
-
-
3Gain-
R3HDM2-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
RAB11A-
-
-
-
3Gain-
RAB11B-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB21-
-
-
-
3Gain-
RAB24-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB28-
-
-
-
1Loss-
RAB2A-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB3B-
-
-
-
1Loss-
RAB3D-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB44-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB5A-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABAC1-
-
-
-
1Loss-
RABGEF1-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABL2B-
-
-
-
3Gain-
RABL3-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACK1-
-
-
-
3Gain-
RAD23A-
-
-
-
3Gain-
RADILp.R595C
Missense
SNP
0.313
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RAMAC-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RANBP3-
-
-
-
3Gain-
RANBP6-
-
-
-
3Gain-
RANBP9-
-
-
-
1Loss-
RAP1B-
-
-
-
3Gain-
RAP2A-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARB-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RASGEF1C-
-
-
-
3Gain-
RASGRF1-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF10-
-
-
-
1Loss-
RASSF3-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RASSF9-
-
-
-
3Gain-
RAVER1p.S510L
Missense
SNP
0.361
3Gain-
RAVER2-
-
-
-
1Loss-
RAX2-
-
-
-
3Gain-
RB1-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP6-
-
-
-
3Gain-
RBM17-
-
-
-
1Loss-
RBM24-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS2-
-
-
-
3Gain-
RBMS3-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPMS2-
-
-
-
3Gain-
RCAN2-
-
-
-
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1L-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCL1-
-
-
-
3Gain-
RCN2-
-
-
-
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RDH8-
-
-
-
3Gain-
REC114-
-
-
-
4Gain-
RECQL4-
-
-
-
3Gain-
RECQL5p.S874L
Missense
SNP
0.494
2--
REELD1-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
3Gain-
RELL1-
-
-
-
1Loss-
REPS1p.S166L
Missense
SNP
0.222
2--
RESP18-
-
-
-
1Loss-
RETN-
-
-
-
3Gain-
RETNLB-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO5-
-
-
-
3Gain-
RFC1-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFTN2-
-
-
-
1Loss-
RFX2-
-
-
-
3Gain-
RFX3-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RGL2-
-
-
-
1Loss-
RGL3-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS12-
-
-
-
1Loss-
RGS14-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS20-
-
-
-
1Loss-
RGS22p.D819N
Missense
SNP
1.000
2--
RHAG-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHBDD2-
-
-
-
3Gain-
RHO-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIN1p.G638C
Missense
SNP
0.448
2--
RING1-
-
-
-
1Loss-
RIOK1-
-
-
-
1Loss-
RIOX2-
-
-
-
3Gain-
RIPK1-
-
-
-
1Loss-
RIPK4-
-
-
-
3Gain-
RIPOR2-
-
-
-
1Loss-
RIPPLY3-
-
-
-
3Gain-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMI2-
-
-
-
3Gain-
RMND1-
-
-
-
1Loss-
RMND5B-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDKRT6A--RNA5-8SN2
RNA5-8SN2--KRT5
RNA5-8SN2--KRT14
RNASEH2A-
-
-
-
3Gain-
RNASEH2B-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RNF111-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF126-
-
-
-
1Loss-
RNF130-
-
-
-
3Gain-
RNF141-
-
-
-
1Loss-
RNF144B-
-
-
-
1Loss-
RNF150-
-
-
-
1Loss-
RNF182-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
1Loss-
RNF225-
-
-
-
3Gain-
RNF25-
-
-
-
1Loss-
RNF39-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF41-
-
-
-
3Gain-
RNF44-
-
-
-
3Gain-
RNF5-
-
-
-
1Loss-
RNF8-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
RNPS1p.R31C
Missense
SNP
0.491
2--
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR1-
-
-
-
1Loss-
RORA-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
1Loss-
RP11-766F14.2p.P1392R
Missense
SNP
0.500
NDND-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPE-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPL10A-
-
-
-
1Loss-
RPL14-
-
-
-
3Gain-
RPL15-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL36-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL4-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL7L1-
-
-
-
1Loss-
RPL8-
-
-
-
3Gain-
RPL9-
-
-
-
1Loss-
RPLP1-
-
-
-
4Gain-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
3Gain-
RPP21-
-
-
-
1Loss-
RPP25-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPP40-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS10-
-
-
-
1Loss-
RPS10-NUDT3-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS15A-
-
-
-
3Gain-
RPS17-
-
-
-
3Gain-
RPS18-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS20-
-
-
-
1Loss-
RPS26-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS28-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
3Gain-
RPS6-
-
-
-
3Gain-
RPS6KA2-
-
-
-
1Loss-
RPSA-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RRAGA-
-
-
-
3Gain-
RRAS2-
-
-
-
1Loss-
RREB1-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRN3-
-
-
-
3Gain-
RRP1-
-
-
-
3Gain-
RRP1B-
-
-
-
3Gain-
RRP36-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSL1D1-
-
-
-
3Gain-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14p.H107Q
Missense
SNP
0.469
2--
RSPH3-
-
-
-
1Loss-
RSPH6A-
-
-
-
3Gain-
RSPH9-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTBDN-
-
-
-
3Gain-
RTN2-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
3Gain-
RUFY4-
-
-
-
1Loss-
RUNX2-
-
-
-
3Gain-
RUVBL1-
-
-
-
3Gain-
RXRB-
-
-
-
1Loss-
RXYLT1-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR1p.E4228D
Missense
SNP
0.572
2--
RYR2p.E3809Q
Missense
SNP
0.529
2--
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
S1PR2-
-
-
-
3Gain-
S1PR4-
-
-
-
3Gain-
S1PR5-
-
-
-
3Gain-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAE1-
-
-
-
3Gain-
SAFB-
-
-
-
3Gain-
SAFB2-
-
-
-
3Gain-
SAG-
-
-
-
1Loss-
SAMD13-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAPCD1-
-
-
-
1Loss-
SARNP-
-
-
-
3Gain-
SASH1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAXO1-
-
-
-
3Gain-
SAXO2-
-
-
-
3Gain-
SAYSD1-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP2-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
3Gain-
SCAPp.S838L
Missense
SNP
1.000
2--
SCAPER-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
3Gain-
SCGB1C1-
-
-
-
1Loss-
SCGB3A1-
-
-
-
3Gain-
SCGN-
-
-
-
1Loss-
SCLT1-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCN10A-
-
-
-
3Gain-
SCN11A-
-
-
-
3Gain-
SCN1A-
-
-
-
1Loss-
SCN5Ap.D297N
Missense
SNP
0.652
3Gain-
SCN7A-
-
-
-
1Loss-
SCN8A-
-
-
-
3Gain-
SCN9A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1B-
-
-
-
3Gain-
SCNN1G-
-
-
-
3Gain-
SCO2-
-
-
-
3Gain-
SCOC-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCRIB-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCUBE3-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SDCBP-
-
-
-
1Loss-
SDK1p.G1064A
Missense
SNP
0.654
3Gain-
SDR16C5-
-
-
-
1Loss-
SDR42E2-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
3Gain-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SEL1L3-
-
-
-
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1LossSELENOF--TTC39A
SELENOO-
-
-
-
3Gain-
SELENOW-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA6B-
-
-
-
3Gain-
SEMA6C-
-
-
-
5Amp-
SEMA7A-
-
-
-
3Gain-
SENP6p.S81C
Missense
SNP
0.647
2--
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
4Gain-
SEPHS1-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT2-
-
-
-
1Loss-
SEPT7-
-
-
-
3Gain-
SERAC1-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERPINB1-
-
-
-
1Loss-
SERPINB6-
-
-
-
1Loss-
SERPINB9-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SETD4-
-
-
-
3Gain-
SETD7-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SF3A2-
-
-
-
3Gain-
SF3B1-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFMBT2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFSWAPp.X897_splice
Splice_Site
SNP
0.360
3Gain-
SFT2D1-
-
-
-
1Loss-
SFTA2-
-
-
-
1Loss-
SFXN1-
-
-
-
3Gain-
SGIP1-
-
-
-
1Loss-
SGO1-
-
-
-
3Gain-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGTA-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D3A-
-
-
-
3Gain-
SH2D3Cp.V168E
Missense
SNP
0.472
2--
SH2D7-
-
-
-
3Gain-
SH3BGR-
-
-
-
3Gain-
SH3BP2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3D19p.S467C
Missense
SNP
1.000
1Loss-
SH3GL1-
-
-
-
3Gain-
SH3GL2-
-
-
-
3Gain-
SH3GL3-
-
-
-
3Gain-
SH3GLB1-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHANK3-
-
-
-
3Gain-
SHARPIN-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHD-
-
-
-
3Gain-
SHISA3-
-
-
-
1Loss-
SHISA9-
-
-
-
3Gain-
SHISAL2A-
-
-
-
1Loss-
SHKBP1-
-
-
-
1Loss-
SHMT2-
-
-
-
3Gain-
SHQ1-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIGIRR-
-
-
-
1Loss-
SIGLEC15p.G57D
Missense
SNP
0.548
2--
SIK1-
-
-
-
3Gain-
SIK1B-
-
-
-
3Gain-
SIM2-
-
-
-
3Gain-
SIMC1-
-
-
-
3Gain-
SIN3A-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIRT5-
-
-
-
1Loss-
SIRT6-
-
-
-
3Gain-
SIX5-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKIV2L-
-
-
-
1Loss-
SKOR1-
-
-
-
4Gain-
SLAIN1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC11A2-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC13A3p.F391L
Missense
SNP
0.489
2--
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC16A14-
-
-
-
1Loss-
SLC16A7-
-
-
-
3Gain-
SLC17A1-
-
-
-
1Loss-
SLC17A2-
-
-
-
1Loss-
SLC17A3-
-
-
-
1Loss-
SLC17A4-
-
-
-
1Loss-
SLC19A1-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
3Gain-
SLC1A5-
-
-
-
3Gain-
SLC1A7-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A13-
-
-
-
3Gain-
SLC22A14-
-
-
-
3Gain-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A7-
-
-
-
3Gain-
SLC23A3-
-
-
-
1Loss-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
3Gain-
SLC25A27-
-
-
-
3Gain-
SLC25A31-
-
-
-
1Loss-
SLC25A38-
-
-
-
3Gain-
SLC25A41-
-
-
-
3Gain-
SLC26A1-
-
-
-
1Loss-
SLC26A10-
-
-
-
3Gain-
SLC26A8-
-
-
-
1Loss-
SLC27A2-
-
-
-
3Gain-
SLC27A5-
-
-
-
3Gain-
SLC29A1-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC34A1-
-
-
-
3Gain-
SLC34A2-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35B2-
-
-
-
3Gain-
SLC35B3-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35E3-
-
-
-
3Gain-
SLC35F4p.F173L
Missense
SNP
0.527
2--
SLC35G2-
-
-
-
3Gain-
SLC37A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A3-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A7-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC44A2-
-
-
-
3Gain-
SLC44A4-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A4-
-
-
-
3Gain-
SLC49A3-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A7-
-
-
-
3Gain-
SLC4A8-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC5A11-
-
-
-
3Gain-
SLC5A9p.Q660*
Nonsense
SNP
0.625
2--
SLC6A15-
-
-
-
3Gain-
SLC6A3p.S351C
Missense
SNP
0.410
2--
SLC6A4p.W541*
p.A468G
Nonsense
Missense
SNP
SNP
0.411
0.414
2--
SLC7A11-
-
-
-
1Loss-
SLC8A2-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLCO3A1-
-
-
-
3Gain-
SLF1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK2p.P610S
Missense
SNP
0.458
NDND-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLTM-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMAD3-
-
-
-
4Gain-
SMAD6-
-
-
-
3Gain-
SMAGP-
-
-
-
3Gain-
SMARCA2-
-
-
-
3Gain-
SMARCA4-
-
-
-
3Gain-
SMARCA5-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCC2-
-
-
-
3Gain-
SMC1B-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMG1-
-
-
-
3Gain-
SMG5p.F575L
Missense
SNP
0.449
2--
SMG9-
-
-
-
3Gain-
SMIM13-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM24-
-
-
-
3Gain-
SMIM27-
-
-
-
3Gain-
SMIM29-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SNAPC2-
-
-
-
3Gain-
SNAPC3-
-
-
-
3Gain-
SNAPC5-
-
-
-
3Gain-
SNCB-
-
-
-
3Gain-
SNED1-
-
-
-
1Loss-
SNHG1-
-
-
-
NDNDSNHG1--PRPF6
SNN-
-
-
-
3Gain-
SNORC-
-
-
-
1Loss-
SNRK-
-
-
-
3Gain-
SNRNP48-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPC-
-
-
-
1Loss-
SNRPD2-
-
-
-
3Gain-
SNUPN-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX20p.A150S
Missense
SNP
0.463
2--
SNX22-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
3Gain-
SNX33-
-
-
-
3Gain-
SNX4-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SNX9-
-
-
-
1Loss-
SOAT2-
-
-
-
3Gain-
SOCS1-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOCS5p.R263E
Missense
DNP
0.410
2--
SOD2-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SORBS1p.Q1237*
Nonsense
SNP
0.580
2--
SORCS2-
-
-
-
1Loss-
SOX14-
-
-
-
3Gain-
SOX17-
-
-
-
1Loss-
SOX18p.E238G
Missense
SNP
0.552
2--
SOX21-
-
-
-
1Loss-
SOX4-
-
-
-
1Loss-
SOX5p.E133*
Nonsense
SNP
0.459
2--
SOX6-
-
-
-
1Loss-
SOX9p.R264T
Missense
SNP
0.487
2--
SP1-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP5-
-
-
-
1Loss-
SP7-
-
-
-
3Gain-
SPAG16-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPATC1L-
-
-
-
3Gain-
SPATS1-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPC24-
-
-
-
3Gain-
SPC25-
-
-
-
1Loss-
SPDEF-
-
-
-
1Loss-
SPEGp.S513L
Missense
SNP
1.000
1Loss-
SPERT-
-
-
-
1Loss-
SPESP1-
-
-
-
4Gain-
SPG21-
-
-
-
3Gain-
SPHKAP-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPON1-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
3Gain-
SPPL2B-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD3p.W111*
Nonsense
SNP
0.322
3Gain-
SPRYD4-
-
-
-
3Gain-
SPRYD7-
-
-
-
1Loss-
SPTBN4-
-
-
-
1Loss-
SQSTM1-
-
-
-
3Gain-
SRBD1p.S957*
Nonsense
SNP
0.511
2--
SRF-
-
-
-
1Loss-
SRGAP1-
-
-
-
3Gain-
SRPK1-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRRM1p.D822H
Missense
SNP
0.342
2--
SRRM3-
-
-
-
3Gain-
SRRM5-
-
-
-
3Gain-
SRSF11-
-
-
-
1Loss-
SRSF2p.E35Q
Missense
SNP
1.000
2--
SRSF3-
-
-
-
1Loss-
SS18L2-
-
-
-
3Gain-
SSB-
-
-
-
1Loss-
SSBP3-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSFA2p.P836A
Missense
SNP
0.418
NDND-
SSR1-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL6-
-
-
-
3Gain-
ST5-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST8SIA2-
-
-
-
3Gain-
ST8SIA6-
-
-
-
1Loss-
STAC-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAG1-
-
-
-
3Gain-
STAM-
-
-
-
1Loss-
STAP2-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD5-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STILp.E365Q
Missense
SNP
0.544
2--
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STK38-
-
-
-
1Loss-
STK39-
-
-
-
1Loss-
STMND1-
-
-
-
1Loss-
STOML1-
-
-
-
4Gain-
STRA6p.V316I
Missense
SNP
0.784
4Gain-
STRADB-
-
-
-
1Loss-
STRN4-
-
-
-
3Gain-
STT3B-
-
-
-
3Gain-
STX10-
-
-
-
3Gain-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STXBP2-
-
-
-
3Gain-
STXBP5-
-
-
-
1Loss-
STXBP5L-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SULT2A1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUMO1-
-
-
-
1Loss-
SUMO3-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
4Gain-
SUN3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT3H-
-
-
-
3Gain-
SUSD5-
-
-
-
3Gain-
SUV39H2-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SVIL-
-
-
-
5Amp-
SWAP70-
-
-
-
1Loss-
SWSAP1-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE2-
-
-
-
3Gain-
SYCE3-
-
-
-
3Gain-
SYCP2L-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYMPK-
-
-
-
3Gain-
SYN3p.S311C
Missense
SNP
0.486
2--
SYNE1p.L960R
Missense
SNP
1.000
1Loss-
SYNGAP1-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYT1-
-
-
-
3Gain-
SYT17-
-
-
-
3Gain-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TAC3-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF11-
-
-
-
1Loss-
TAF1L-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAF8-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAP1-
-
-
-
1Loss-
TAP2-
-
-
-
1Loss-
TAPBP-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARBP2-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TBC1D1-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D15-
-
-
-
3Gain-
TBC1D19-
-
-
-
1Loss-
TBC1D21-
-
-
-
4Gain-
TBC1D22A-
-
-
-
3Gain-
TBC1D22B-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D2B-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D4-
-
-
-
1Loss-
TBC1D7-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBC1D9B-
-
-
-
3Gain-
TBCC-
-
-
-
1Loss-
TBK1-
-
-
-
3Gain-
TBL1Xp.E199K
Missense
SNP
0.317
NDND-
TBL2-
-
-
-
3Gain-
TBP-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBXA2Rp.M112I
Missense
SNP
0.651
3Gain-
TBXT-
-
-
-
1Loss-
TCAIM-
-
-
-
3Gain-
TCEA1-
-
-
-
1Loss-
TCEANC2-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
3Gain-
TCF19-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF7L2p.V470I
Missense
SNP
0.478
2--
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
1Loss-
TCTE1-
-
-
-
3Gain-
TCTE3-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TDP2-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRD5p.D369N
Missense
SNP
0.500
2--
TDRD6-
-
-
-
3Gain-
TDRD7-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TEAD3-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TEK-
-
-
-
3Gain-
TEKT5-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TEX101-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX45-
-
-
-
3Gain-
TEX9-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAP2A-
-
-
-
1Loss-
TFAP2D-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFCP2-
-
-
-
3Gain-
TFEB-
-
-
-
1Loss-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFBR2-
-
-
-
3Gain-
TGFBR3L-
-
-
-
3Gain-
TGS1-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP10-
-
-
-
4Gain-
THAP2-
-
-
-
3Gain-
THAP4-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THOC3-
-
-
-
3Gain-
THOP1-
-
-
-
3Gain-
THRB-
-
-
-
3Gain-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
4Gain-
THUMPD1-
-
-
-
3Gain-
TIAM2-
-
-
-
1Loss-
TICAM1-
-
-
-
3Gain-
TIGD1-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGIT-
-
-
-
3Gain-
TIMELESS-
-
-
-
3Gain-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
3Gain-
TIMM29-
-
-
-
3Gain-
TIMM44-
-
-
-
3Gain-
TIMMDC1-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TJAP1-
-
-
-
3Gain-
TJP2-
-
-
-
1Loss-
TJP3-
-
-
-
3Gain-
TLE2-
-
-
-
3Gain-
TLE3p.S382F
Missense
SNP
0.282
4Gain-
TLE6-
-
-
-
3Gain-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM4SF20-
-
-
-
1Loss-
TM6SF1-
-
-
-
3Gain-
TM9SF2-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMBIM4-
-
-
-
3Gain-
TMC3-
-
-
-
3Gain-
TMC5-
-
-
-
3Gain-
TMC7-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMED1-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED9-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM132D-
-
-
-
3Gain-
TMEM145-
-
-
-
1Loss-
TMEM14B-
-
-
-
1Loss-
TMEM14C-
-
-
-
1Loss-
TMEM151B-
-
-
-
3Gain-
TMEM156-
-
-
-
1Loss-
TMEM159-
-
-
-
3Gain-
TMEM160-
-
-
-
3Gain-
TMEM169-
-
-
-
1Loss-
TMEM170B-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM184A-
-
-
-
4Gain-
TMEM184C-
-
-
-
1Loss-
TMEM19-
-
-
-
3Gain-
TMEM198-
-
-
-
1Loss-
TMEM202-
-
-
-
4Gain-
TMEM205-
-
-
-
3Gain-
TMEM215-
-
-
-
3Gain-
TMEM217-
-
-
-
1Loss-
TMEM229B-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM259-
-
-
-
1Loss-
TMEM266-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM41B-
-
-
-
1Loss-
TMEM45A-
-
-
-
3Gain-
TMEM59-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM61-
-
-
-
1Loss-
TMEM63B-
-
-
-
3Gain-
TMEM68-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM91-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIGD1p.N58H
Missense
SNP
0.452
2--
TMIGD2-
-
-
-
3Gain-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS7-
-
-
-
3Gain-
TMPRSS9-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4-
-
-
-
1Loss-
TNF-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
3Gain-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF17-
-
-
-
3Gain-
TNFRSF21-
-
-
-
3Gain-
TNFSF13B-
-
-
-
1Loss-
TNFSF14-
-
-
-
3Gain-
TNFSF9-
-
-
-
3Gain-
TNIP2p.L304V
Missense
SNP
1.000
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNP2-
-
-
-
3Gain-
TNPO2-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6A-
-
-
-
3Gain-
TNS1-
-
-
-
1Loss-
TNS2-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNS4p.E461K
Missense
SNP
1.000
2--
TNXB-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOMM40-
-
-
-
3Gain-
TOMM6-
-
-
-
1Loss-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
3Gain-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
3Gain-
TOX-
-
-
-
1Loss-
TP53BP1p.G1788A
Missense
SNP
0.538
2--
TPD52L3-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
3Gain-
TPM1-
-
-
-
3Gain-
TPMT-
-
-
-
1Loss-
TPOp.G85A
Missense
SNP
0.469
2--
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
3Gain-
TPRX1-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPST2p.D203H
Missense
SNP
0.460
2--
TRABD-
-
-
-
3Gain-
TRAF3IP1-
-
-
-
1Loss-
TRAK1-
-
-
-
3Gain-
TRAK2-
-
-
-
1Loss-
TRANK1-
-
-
-
3Gain-
TRAPPC10-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC5-
-
-
-
3Gain-
TRAPPC6A-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TRAV30p.L101I
Missense
SNP
0.510
NDND-
TRBV20-1p.E101K
Missense
SNP
1.000
NDND-
TRDMT1-
-
-
-
1Loss-
TREM1-
-
-
-
1Loss-
TREM2-
-
-
-
1Loss-
TREML1-
-
-
-
1Loss-
TREML2-
-
-
-
1Loss-
TREML4-
-
-
-
1Loss-
TRERF1-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM10-
-
-
-
1Loss-
TRIM13-
-
-
-
1Loss-
TRIM15-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM26-
-
-
-
1Loss-
TRIM27-
-
-
-
1Loss-
TRIM28-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM31-
-
-
-
1Loss-
TRIM35p.R195C
Missense
SNP
0.466
2--
TRIM36p.I268M
Missense
SNP
0.450
2--
TRIM38-
-
-
-
1Loss-
TRIM39-
-
-
-
1Loss-
TRIM39-RPP21-
-
-
-
1Loss-
TRIM40-
-
-
-
1Loss-
TRIM41-
-
-
-
3Gain-
TRIM5-
-
-
-
1Loss-
TRIM50-
-
-
-
3Gain-
TRIM52-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM7-
-
-
-
3Gain-
TRIM71-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIP10-
-
-
-
3Gain-
TRIP12-
-
-
-
1Loss-
TRIP4-
-
-
-
3Gain-
TRIR-
-
-
-
3Gain-
TRMT1-
-
-
-
3Gain-
TRMT10C-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMU-
-
-
-
3Gain-
TRPM2-
-
-
-
3Gain-
TRPM3p.R498K
Missense
SNP
0.527
2--
TRPM5-
-
-
-
1Loss-
TRPM7-
-
-
-
3Gain-
TRPM8-
-
-
-
1Loss-
TSFM-
-
-
-
3Gain-
TSNARE1-
-
-
-
3Gain-
TSPAN16-
-
-
-
3Gain-
TSPAN17-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN3-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN8-
-
-
-
3Gain-
TSPEAR-
-
-
-
3Gain-
TSPO2-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTBK1-
-
-
-
3Gain-
TTC21A-
-
-
-
3Gain-
TTC21B-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC3-
-
-
-
3Gain-
TTC38-
-
-
-
3Gain-
TTC39A-
-
-
-
2-SELENOF--TTC39A
TTC39B-
-
-
-
3Gain-
TTC4-
-
-
-
1Loss-
TTLL13P-
-
-
-
3Gain-
TTLL2-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTLL8-
-
-
-
3Gain-
TTNp.R8216K
Missense
SNP
0.518
2--
TTPA-
-
-
-
1Loss-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB-
-
-
-
1Loss-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB4A-
-
-
-
3Gain-
TUBB8-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP6-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
3Gain-
TUT4-
-
-
-
1Loss-
TVP23A-
-
-
-
3Gain-
TWIST2-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXNDC11-
-
-
-
3Gain-
TXNDC12-
-
-
-
1Loss-
TXNDC5-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYK2-
-
-
-
3Gain-
TYMP-
-
-
-
3Gain-
TYRP1-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2AF1-
-
-
-
3Gain-
U2AF1L5-
-
-
-
3Gain-
U2SURPp.S14*
Nonsense
SNP
0.645
2--
UACAp.Q176E
Missense
SNP
0.254
4Gain-
UBA3p.D119H
Missense
SNP
1.000
1Loss-
UBA5-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBAP1L-
-
-
-
3Gain-
UBASH3A-
-
-
-
3Gain-
UBD-
-
-
-
1Loss-
UBE2Cp.E21K
Missense
SNP
0.495
2--
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
3Gain-
UBE2E2-
-
-
-
3Gain-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2K-
-
-
-
1Loss-
UBE2M-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2U-
-
-
-
1Loss-
UBFD1-
-
-
-
3Gain-
UBL5-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBP1-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR2-
-
-
-
1Loss-
UBR3-
-
-
-
1Loss-
UBXN2B-
-
-
-
1Loss-
UBXN6-
-
-
-
3Gain-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3p.R202T
Missense
SNP
0.533
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UHRF1-
-
-
-
3Gain-
UHRF1BP1-
-
-
-
1Loss-
UHRF2-
-
-
-
3Gain-
UIMC1-
-
-
-
3Gain-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK1-
-
-
-
3Gain-
ULK3-
-
-
-
3Gain-
ULK4-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UMOD-
-
-
-
3Gain-
UMODL1-
-
-
-
3Gain-
UMPS-
-
-
-
3Gain-
UNC13C-
-
-
-
3Gain-
UNC45A-
-
-
-
3Gain-
UNC5A-
-
-
-
3Gain-
UNC5CL-
-
-
-
1Loss-
UNC80-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UNCX-
-
-
-
4Gain-
UPF2-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC2-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH1C-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP15-
-
-
-
3Gain-
USP17L13-
-
-
-
1Loss-
USP24-
-
-
-
1Loss-
USP28p.E693Q
Missense
SNP
0.523
2--
USP3-
-
-
-
3Gain-
USP31-
-
-
-
3Gain-
USP32p.E267K
Missense
SNP
0.567
2--
USP33-
-
-
-
1Loss-
USP37-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP47-
-
-
-
1Loss-
USP49-
-
-
-
1Loss-
USP50-
-
-
-
3Gain-
USP6NL-
-
-
-
1Loss-
USP8-
-
-
-
3Gain-
UST-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VARS-
-
-
-
1Loss-
VARS2-
-
-
-
1Loss-
VASP-
-
-
-
3Gain-
VAV1-
-
-
-
3Gain-
VAV3p.E150K
Missense
SNP
0.513
2--
VEGFA-
-
-
-
3Gain-
VENTX-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VIPR1-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
3Gain-
VMAC-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPS13C-
-
-
-
3Gain-
VPS26C-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS33B-
-
-
-
3Gain-
VPS35L-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS52-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VWA3A-
-
-
-
3Gain-
VWA7-
-
-
-
1Loss-
VWC2-
-
-
-
3Gain-
VWC2L-
-
-
-
1Loss-
WAC-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR27-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR4-
-
-
-
3Gain-
WDR46-
-
-
-
1Loss-
WDR48-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR61-
-
-
-
3Gain-
WDR63-
-
-
-
1Loss-
WDR72-
-
-
-
3Gain-
WDR77p.S251*
Nonsense
SNP
0.507
2--
WDR78-
-
-
-
1Loss-
WDR83-
-
-
-
3Gain-
WDR83OS-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WLS-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7B-
-
-
-
3Gain-
WRB-
-
-
-
3Gain-
WRB-SH3BGR-
-
-
-
3Gain-
WRNIP1-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
XAB2-
-
-
-
3Gain-
XIRP1-
-
-
-
3Gain-
XIRP2-
-
-
-
1Loss-
XKR4-
-
-
-
1Loss-
XPO5-
-
-
-
3Gain-
XPOT-
-
-
-
3Gain-
XRCC1-
-
-
-
3Gain-
XRCC5-
-
-
-
1Loss-
XYLB-
-
-
-
3Gain-
XYLT1-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YBEY-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIPF1-
-
-
-
1Loss-
YIPF2-
-
-
-
3Gain-
YIPF3-
-
-
-
3Gain-
YIPF7-
-
-
-
1Loss-
YJU2-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YME1L1-
-
-
-
1Loss-
YTHDF3-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
ZAR1-
-
-
-
1Loss-
ZBED2-
-
-
-
3Gain-
ZBED4-
-
-
-
3Gain-
ZBED5-
-
-
-
1Loss-
ZBED9-
-
-
-
1Loss-
ZBTB11-
-
-
-
3Gain-
ZBTB12-
-
-
-
1Loss-
ZBTB2-
-
-
-
1Loss-
ZBTB20-
-
-
-
3Gain-
ZBTB21-
-
-
-
3Gain-
ZBTB22-
-
-
-
1Loss-
ZBTB39-
-
-
-
3Gain-
ZBTB45-
-
-
-
3Gain-
ZBTB47-
-
-
-
3Gain-
ZBTB49-
-
-
-
1Loss-
ZBTB7A-
-
-
-
3Gain-
ZBTB9-
-
-
-
1Loss-
ZC3H10-
-
-
-
3Gain-
ZC3H12D-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H4-
-
-
-
3Gain-
ZC3H7A-
-
-
-
3Gain-
ZCCHC4-
-
-
-
1Loss-
ZCWPW2-
-
-
-
3Gain-
ZDBF2-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC23-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZFAND2A-
-
-
-
4Gain-
ZFAND2B-
-
-
-
1Loss-
ZFAND3-
-
-
-
1Loss-
ZFAND6-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFP2-
-
-
-
3Gain-
ZFP28p.E621K
Missense
SNP
1.000
2--
ZFP41-
-
-
-
3Gain-
ZFP57-
-
-
-
1Loss-
ZFP62-
-
-
-
3Gain-
ZFP82p.E507K
Missense
SNP
0.503
2--
ZFR2-
-
-
-
3Gain-
ZFYVE28-
-
-
-
1Loss-
ZFYVE9-
-
-
-
1Loss-
ZGLP1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
3Gain-
ZKSCAN3-
-
-
-
1Loss-
ZKSCAN4-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF12-
-
-
-
3Gain-
ZNF121-
-
-
-
3Gain-
ZNF132-
-
-
-
3Gain-
ZNF134-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF154-
-
-
-
1Loss-
ZNF165-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF177-
-
-
-
3Gain-
ZNF184-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF251-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF266-
-
-
-
3Gain-
ZNF274-
-
-
-
3Gain-
ZNF280Ap.L239V
Missense
SNP
0.488
2--
ZNF280D-
-
-
-
3Gain-
ZNF283-
-
-
-
3Gain-
ZNF296-
-
-
-
3Gain-
ZNF304-
-
-
-
1Loss-
ZNF311-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF317-
-
-
-
3Gain-
ZNF318p.D1832H
Missense
SNP
0.307
3Gain-
ZNF322-
-
-
-
1Loss-
ZNF324-
-
-
-
3Gain-
ZNF324B-
-
-
-
3Gain-
ZNF329-
-
-
-
3Gain-
ZNF330-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF346-
-
-
-
3Gain-
ZNF354A-
-
-
-
3Gain-
ZNF354B-
-
-
-
3Gain-
ZNF354C-
-
-
-
3Gain-
ZNF358-
-
-
-
3Gain-
ZNF37A-
-
-
-
1Loss-
ZNF385A-
-
-
-
3Gain-
ZNF385D-
-
-
-
3Gain-
ZNF391-
-
-
-
1Loss-
ZNF395p.N192S
Missense
SNP
0.533
2--
ZNF414-
-
-
-
3Gain-
ZNF416-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF426-
-
-
-
3Gain-
ZNF428-
-
-
-
3Gain-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF438-
-
-
-
3Gain-
ZNF445-
-
-
-
3Gain-
ZNF446-
-
-
-
3Gain-
ZNF454-
-
-
-
3Gain-
ZNF460-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF486-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF497-
-
-
-
3Gain-
ZNF506-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF518B-
-
-
-
1Loss-
ZNF526-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF541-
-
-
-
3Gain-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
3Gain-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF554-
-
-
-
3Gain-
ZNF555-
-
-
-
3Gain-
ZNF556-
-
-
-
3Gain-
ZNF557-
-
-
-
3Gain-
ZNF558-
-
-
-
3Gain-
ZNF559-
-
-
-
3Gain-
ZNF559-ZNF177-
-
-
-
3Gain-
ZNF560-
-
-
-
3Gain-
ZNF561-
-
-
-
3Gain-
ZNF562-
-
-
-
3Gain-
ZNF57-
-
-
-
3Gain-
ZNF574-
-
-
-
1Loss-
ZNF575-
-
-
-
3Gain-
ZNF576-
-
-
-
3Gain-
ZNF579p.E190K
Missense
SNP
0.393
2--
ZNF584-
-
-
-
3Gain-
ZNF595-
-
-
-
1Loss-
ZNF609-
-
-
-
3Gain-
ZNF611p.D120H
Missense
SNP
0.475
2--
ZNF619-
-
-
-
3Gain-
ZNF620-
-
-
-
3Gain-
ZNF621-
-
-
-
3Gain-
ZNF623-
-
-
-
3Gain-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
3Gain-
ZNF653-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF662-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF699-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF708p.A82G
Missense
DNP
0.519
1Loss-
ZNF709p.Q58*
Nonsense
SNP
0.661
2--
ZNF713-
-
-
-
3Gain-
ZNF714-
-
-
-
1Loss-
ZNF716-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF740-
-
-
-
3Gain-
ZNF749-
-
-
-
1Loss-
ZNF76-
-
-
-
1Loss-
ZNF765p.H145Y
Missense
SNP
0.496
2--
ZNF77-
-
-
-
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF774-
-
-
-
3Gain-
ZNF8-
-
-
-
3Gain-
ZNF80-
-
-
-
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF823-
-
-
-
3Gain-
ZNF827-
-
-
-
1Loss-
ZNF837-
-
-
-
3Gain-
ZNF846-
-
-
-
3Gain-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
3Gain-
ZNF853p.G85A
Missense
SNP
0.299
3Gain-
ZNF860-
-
-
-
3Gain-
ZNF879-
-
-
-
3Gain-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNHIT6-
-
-
-
1Loss-
ZNRD1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF4-
-
-
-
3Gain-
ZP2-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPLD1-
-
-
-
3Gain-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZSCAN12-
-
-
-
1Loss-
ZSCAN16-
-
-
-
1Loss-
ZSCAN22-
-
-
-
3Gain-
ZSCAN23-
-
-
-
1Loss-
ZSCAN26-
-
-
-
1Loss-
ZSCAN31-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN9-
-
-
-
1Loss-
ZSWIM9-
-
-
-
3Gain-
ZWILCH-
-
-
-
3Gain-
ZXDCp.R379T
Missense
SNP
0.741
3Gain-
ZYG11A-
-
-
-
1Loss-
ZYG11B-
-
-
-
1Loss-