PDMR-515677~202-R~A05M255-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
AAR2-
-
-
-
3Gain-
AARSp.R616C
Missense
SNP
0.554
2--
AARS2-
-
-
-
5Amp-
AASS-
-
-
-
1Loss-
ABCA12p.G66E
Missense
SNP
0.465
2--
ABCA3p.P973S
Missense
SNP
0.487
2--
ABCA4p.S2080F
Missense
SNP
1.000
2--
ABCB1p.D457N
Missense
SNP
0.515
2--
ABCB10-
-
-
-
1Loss-
ABCB8-
-
-
-
1Loss-
ABCC10-
-
-
-
5Amp-
ABCC5p.P203S
Missense
SNP
0.673
3Gain-
ABCF1-
-
-
-
4Gain-
ABCF2-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABHD16A-
-
-
-
4Gain-
ABHD16B-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABI3p.N360T
Missense
SNP
0.578
2--
ABL1-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABO-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
ABT1-
-
-
-
3Gain-
AC002985.1-
-
-
-
3Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004754.3p.E490K
Missense
SNP
0.524
NDND-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC010326.2-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC021097.2-
-
-
-
1Loss-
AC021097.3-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026786.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC073111.3-
-
-
-
1Loss-
AC073111.5-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092329.3-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093668.1-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC106886.5-
-
-
-
3Gain-
AC115220.1-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
AC135050.2-
-
-
-
3Gain-
AC136428.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACAT2-
-
-
-
1Loss-
ACBD3-
-
-
-
1Loss-
ACBD5-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACER2-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACO1-
-
-
-
1Loss-
ACOT13-
-
-
-
5Amp-
ACOT8-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACSBG1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACSS3p.M485I
Missense
SNP
0.516
2--
ACTA1-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL6A-
-
-
-
3Gain-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTR2p.V244L
Missense
SNP
0.443
2--
ACTR3B-
-
-
-
1Loss-
ACTR3C-
-
-
-
1Loss-
ACTR5-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ADA-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM32p.G103E
Missense
SNP
0.481
2--
ADAMTS13-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
1Loss-
ADAMTSL4p.E2K
Missense
SNP
0.717
3Gain-
ADAR-
-
-
-
3Gain-
ADARB2p.G491E
Missense
SNP
0.711
3Gain-
ADAT2-
-
-
-
1Loss-
ADCK2-
-
-
-
1Loss-
ADCY10-
-
-
-
3Gain-
ADCY8p.R457C
p.G422R
Missense
Missense
SNP
SNP
0.616
0.531
2--
ADGB-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRD2p.S601F
Missense
DNP
0.424
2--
ADGRF1-
-
-
-
3Gain-
ADGRF5p.P413S
Missense
SNP
0.616
3Gain-
ADGRG6-
-
-
-
1Loss-
ADGRV1p.P193S
p.V1666I
Missense
Missense
SNP
SNP
0.422
0.516
2--
ADIG-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADO-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADRA1Bp.R143C
Missense
SNP
0.463
2--
ADRM1-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
ADTRP-
-
-
-
5Amp-
AFDN-
-
-
-
1Loss-
AFF3p.P596H
Missense
SNP
0.448
2--
AFG1L-
-
-
-
1Loss-
AFMp.G134E
Missense
SNP
0.523
2--
AGAP3-
-
-
-
1Loss-
AGER-
-
-
-
5Amp-
AGK-
-
-
-
1Loss-
AGPAT1-
-
-
-
5Amp-
AGPAT4-
-
-
-
1Loss-
AGT-
-
-
-
1Loss-
AHCY-
-
-
-
3Gain-
AHCYL2-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHRp.X387_splice
Splice_Site
SNP
0.526
2--
AHSG-
-
-
-
3Gain-
AHSP-
-
-
-
1Loss-
AIDA-
-
-
-
1Loss-
AIF1-
-
-
-
4Gain-
AIF1L-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AIM1Lp.S193N
Missense
SNP
1.000
NDND-
AIM2p.E7K
Missense
SNP
0.653
3Gain-
AK3-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AK8-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP1p.S700F
Missense
SNP
0.531
2--
AKAP12-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKAP9p.D2123N
p.E3174K
Missense
Missense
SNP
SNP
0.412
0.511
2--
AKIRIN2-
-
-
-
1Loss-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
1Loss-
AKR1E2-
-
-
-
3Gain-
AKT1-
-
-
-
1Loss-
AL021997.3-
-
-
-
4Gain-
AL024498.2-
-
-
-
5Amp-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
5Amp-
AL049697.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL096814.1-
-
-
-
5Amp-
AL109827.1-
-
-
-
4Gain-
AL110118.2-
-
-
-
1Loss-
AL117348.2-
-
-
-
1Loss-
AL121753.1-
-
-
-
4Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL132671.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
3Gain-
AL159163.1-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162417.1-
-
-
-
1Loss-
AL353588.1-
-
-
-
5Amp-
AL355102.2-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL365205.1-
-
-
-
5Amp-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512428.1-
-
-
-
5Amp-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL645922.1-
-
-
-
4Gain-
AL645941.2-
-
-
-
5Amp-
AL662884.4-
-
-
-
5Amp-
AL662899.1-
-
-
-
4Gain-
AL662899.2-
-
-
-
4Gain-
AL669918.1-
-
-
-
5Amp-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALBp.D211N
Missense
SNP
0.478
2--
ALDH1B1-
-
-
-
1Loss-
ALDH5A1-
-
-
-
5Amp-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALOX15p.G283E
Missense
SNP
0.411
2--
ALOX5-
-
-
-
1Loss-
ALYREFp.A252V
Missense
SNP
0.518
2--
AMD1-
-
-
-
1Loss-
AMER2p.L109F
Missense
SNP
0.484
2--
AMHR2p.G212E
Missense
SNP
0.440
2--
AMN-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC4p.R250W
Missense
SNP
0.564
2--
ANGEL2-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANHX-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKFN1p.P162S
Missense
SNP
0.411
2--
ANKRD13Ap.S50F
Missense
SNP
0.481
2--
ANKRD16-
-
-
-
3Gain-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD26-
-
-
-
3Gain-
ANKRD30Ap.E419K
Missense
SNP
0.623
2--
ANKRD30Bp.X732_splice
Splice_Site
SNP
0.486
1Loss-
ANKRD45-
-
-
-
3Gain-
ANKRD54-
-
-
-
3Gain-
ANKRD6-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD66-
-
-
-
3Gain-
ANKRD7-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANKS1A-
-
-
-
5Amp-
ANKS6-
-
-
-
3Gain-
ANO4p.S903L
Missense
SNP
0.505
2--
ANOS1p.G432E
Missense
SNP
0.466
NDND-
ANP32B-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANTXRL-
-
-
-
1Loss-
ANXA7p.P258S
Missense
SNP
0.476
2--
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAHp.K514R
Missense
SNP
0.516
2--
AOC1-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
APBB1IP-
-
-
-
3Gain-
APCDD1L-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC2-
-
-
-
5Amp-
APOBEC4-
-
-
-
3Gain-
APOD-
-
-
-
3Gain-
APOHp.P24S
Missense
SNP
0.465
2--
APOM-
-
-
-
4Gain-
APOPT1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
ARF1-
-
-
-
1Loss-
ARF5-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG1-
-
-
-
1Loss-
ARHGAP12-
-
-
-
3Gain-
ARHGAP18-
-
-
-
1Loss-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
1Loss-
ARHGAP25p.V149G
Missense
SNP
0.570
2--
ARHGAP30-
-
-
-
3Gain-
ARHGAP32p.P1875S
Missense
SNP
0.438
2--
ARHGAP40-
-
-
-
3Gain-
ARHGEF11-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF39-
-
-
-
1Loss-
ARHGEF5-
-
-
-
1Loss-
ARID1B-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARL5B-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC10-
-
-
-
1Loss-
ARMC12-
-
-
-
5Amp-
ARMC2-
-
-
-
1Loss-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMH2-
-
-
-
5Amp-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARSFp.L519M
Missense
DNP
0.632
NDND-
ARV1-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASB10-
-
-
-
1Loss-
ASB13-
-
-
-
3Gain-
ASB14p.V555A
Missense
SNP
0.450
NDND-
ASB15-
-
-
-
1Loss-
ASB2-
-
-
-
1Loss-
ASB6-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCC2p.L308R
Missense
SNP
0.408
2--
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASPG-
-
-
-
1Loss-
ASPHD2-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASPRV1p.S342F
Missense
SNP
0.524
2--
ASS1-
-
-
-
1Loss-
ASTN1-
-
-
-
3Gain-
ASTN2p.P1023L
Missense
SNP
0.460
2--
ASXL1-
-
-
-
3Gain-
ASZ1-
-
-
-
1Loss-
ATAT1-
-
-
-
4Gain-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6B-
-
-
-
5Amp-
ATG2B-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATG9B-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5F1E-
-
-
-
3Gain-
ATP5MPL-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1G2-
-
-
-
4Gain-
ATP6V1G2-DDX39B-
-
-
-
4Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP7Bp.A395V
Missense
SNP
0.502
2--
ATP8B2-
-
-
-
3Gain-
ATP9A-
-
-
-
3Gain-
ATXN1-
-
-
-
5Amp-
ATXN3-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2p.M249I
Missense
SNP
0.681
3Gain-
B3GALT4-
-
-
-
5Amp-
B3GAT2-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B4GALT1-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
BACH2-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAG6-
-
-
-
4Gain-
BAIAP2L2-
-
-
-
3Gain-
BAK1-
-
-
-
5Amp-
BAMBI-
-
-
-
3Gain-
BARHL1-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCKDHB-
-
-
-
1Loss-
BCKDK-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L11p.P119L
Missense
SNP
0.500
2--
BCL6-
-
-
-
3Gain-
BCL7C-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCLAF1-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BEND6p.G39E
Missense
SNP
0.407
2--
BEND7-
-
-
-
3Gain-
BGLAP-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BICRAL-
-
-
-
5Amp-
BIRC7-
-
-
-
3Gain-
BIRC8-
-
-
-
1Loss-
BLCAP-
-
-
-
3Gain-
BLMp.R1309K
Missense
SNP
0.410
2--
BLOC1S5-
-
-
-
5Amp-
BLOC1S5-TXNDC5-
-
-
-
5Amp-
BLZF1-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMP6-
-
-
-
5Amp-
BMP7-
-
-
-
3Gain-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC1p.I855S
p.D309E
Missense
Missense
SNP
SNP
0.491
0.417
2--
BNC2-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BPHL-
-
-
-
5Amp-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3p.N191H
Missense
SNP
0.307
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPNT1-
-
-
-
1Loss-
BRAF-
-
-
-
1Loss-
BRD2-
-
-
-
5Amp-
BRD3-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
5Amp-
BROX-
-
-
-
1Loss-
BRPF3-
-
-
-
5Amp-
BRWD3p.G514S
Missense
SNP
0.530
NDND-
BTBD11p.G173D
Missense
SNP
0.523
2--
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD9-
-
-
-
5Amp-
BTG2-
-
-
-
3Gain-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
5Amp-
BTN3A1-
-
-
-
5Amp-
BTN3A2-
-
-
-
5Amp-
BTN3A3-
-
-
-
5Amp-
BTNL2-
-
-
-
5Amp-
BTNL8p.S466L
Missense
SNP
1.000
2--
BVES-
-
-
-
1Loss-
BYSL-
-
-
-
5Amp-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
3Gain-
C10orf53-
-
-
-
1Loss-
C10orf67-
-
-
-
3Gain-
C10orf71-
-
-
-
1Loss-
C11orf88p.E17K
Missense
SNP
0.496
2--
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
1Loss-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
1Loss-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
1Loss-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QL3-
-
-
-
3Gain-
C1QTNF9Bp.G98K
Missense
DNP
0.138
2--
C2-
-
-
-
4Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
4Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C2CD4D-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C6orf10-
-
-
-
5Amp-
C6orf106-
-
-
-
5Amp-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf132-
-
-
-
5Amp-
C6orf136-
-
-
-
4Gain-
C6orf15-
-
-
-
4Gain-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
5Amp-
C6orf203-
-
-
-
1Loss-
C6orf222-
-
-
-
5Amp-
C6orf223-
-
-
-
5Amp-
C6orf226-
-
-
-
5Amp-
C6orf47-
-
-
-
4Gain-
C6orf48-
-
-
-
4Gain-
C6orf52-
-
-
-
5Amp-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
5Amp-
C6orf89-
-
-
-
5Amp-
C7orf33-
-
-
-
1Loss-
C7orf55-LUC7L2-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C9orf116-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf50-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf78-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CACFD1-
-
-
-
1Loss-
CACNA1Cp.P1829L
Missense
SNP
0.406
2--
CACNA1E-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNB2-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACYBP-
-
-
-
3Gain-
CADp.G416S
Missense
SNP
0.456
2--
CADM3-
-
-
-
3Gain-
CADPS2-
-
-
-
1Loss-
CAGE1-
-
-
-
5Amp-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALU-
-
-
-
1Loss-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2N2-
-
-
-
3Gain-
CAMSAP1-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CANT1p.X279_splice
Splice_Site
SNP
0.448
2--
CAP2-
-
-
-
5Amp-
CAPN11-
-
-
-
5Amp-
CAPN2-
-
-
-
1Loss-
CAPN8-
-
-
-
1Loss-
CAPN9-
-
-
-
1Loss-
CAPZA2-
-
-
-
1Loss-
CARMIL1-
-
-
-
5Amp-
CASC10-
-
-
-
3Gain-
CASP12p.L336F
p.N34S
Missense
Missense
SNP
SNP
0.481
0.495
2--
CASP2-
-
-
-
1Loss-
CASP8AP2-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASS4-
-
-
-
3Gain-
CATSPERB-
-
-
-
1Loss-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBFA2T2-
-
-
-
3Gain-
CBLL1p.A184V
Missense
SNP
1.000
1Loss-
CBLN4-
-
-
-
3Gain-
CBWD1-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC136-
-
-
-
1Loss-
CCDC146p.P932R
Missense
SNP
0.495
2--
CCDC167-
-
-
-
5Amp-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
1Loss-
CCDC189-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC197-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC3-
-
-
-
3Gain-
CCDC33p.P380S
Missense
SNP
0.500
2--
CCDC39-
-
-
-
3Gain-
CCDC47p.E72K
Missense
SNP
0.563
2--
CCDC50-
-
-
-
3Gain-
CCDC6-
-
-
-
1Loss-
CCDC7-
-
-
-
3Gain-
CCDC71L-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC9p.P204R
Missense
SNP
0.532
2--
CCHCR1-
-
-
-
4Gain-
CCIN-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCM2L-
-
-
-
3Gain-
CCNC-
-
-
-
1Loss-
CCND3-
-
-
-
5Amp-
CCNFp.P449A
Missense
SNP
0.471
2--
CCNK-
-
-
-
1Loss-
CCNY-
-
-
-
3Gain-
CCR6-
-
-
-
1Loss-
CCSAP-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CD109-
-
-
-
1Loss-
CD163L1p.R1434K
p.A869V
Missense
Missense
SNP
SNP
0.497
0.527
2--
CD164-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD24-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD274-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD40-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD72-
-
-
-
1Loss-
CD83-
-
-
-
5Amp-
CD84-
-
-
-
3Gain-
CD96p.E24K
Missense
SNP
0.492
2--
CDC123-
-
-
-
3Gain-
CDC16p.W418*
Nonsense
SNP
0.667
2--
CDC37L1-
-
-
-
1Loss-
CDC40p.T288R
Missense
SNP
0.986
1Loss-
CDC42BPA-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC5L-
-
-
-
5Amp-
CDC73-
-
-
-
3Gain-
CDCA4-
-
-
-
1Loss-
CDH12p.P486S
Missense
SNP
0.452
2--
CDH22-
-
-
-
3Gain-
CDH23-
-
-
-
1Loss-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDHR3-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK18-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK5-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDKAL1-
-
-
-
5Amp-
CDKL4p.E5K
Missense
SNP
0.448
2--
CDKN1A-
-
-
-
5Amp-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDS2p.P43L
Missense
SNP
0.448
2--
CDSN-
-
-
-
4Gain-
CDYL-
-
-
-
5Amp-
CEACAM1-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPB-
-
-
-
3Gain-
CEL-
-
-
-
1Loss-
CELF2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELSR3p.E2385K
Missense
SNP
0.480
2--
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPW-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP131p.E1046K
Missense
SNP
0.396
2--
CEP162-
-
-
-
1Loss-
CEP170p.S996F
Missense
SNP
0.454
2--
CEP170B-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP250-
-
-
-
4Gain-
CEP290p.D666F
Missense
DNP
0.526
2--
CEP295p.S1971G
Missense
SNP
0.503
2--
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERS1-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP206-
-
-
-
1Loss-
CFAP43p.E1133K
Missense
SNP
0.399
2--
CFAP45-
-
-
-
3Gain-
CFAP47p.G2592R
Missense
SNP
0.342
NDND-
CFAP77-
-
-
-
1Loss-
CFB-
-
-
-
4Gain-
CFHp.P25S
Missense
SNP
0.326
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2p.S43F
Missense
SNP
0.343
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFTR-
-
-
-
1Loss-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CHAT-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHGA-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHMP4B-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHPF2-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRM2-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNB2-
-
-
-
3Gain-
CHST3-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CILP2p.E444K
Missense
SNP
0.553
2--
CINP-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLBA1-
-
-
-
1Loss-
CLCN1-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLCNKAp.P276S
Missense
SNP
1.000
2--
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLEC2L-
-
-
-
1Loss-
CLEC4Fp.P32L
Missense
SNP
0.542
2--
CLEC5A-
-
-
-
1Loss-
CLIC1-
-
-
-
4Gain-
CLIC2p.E165K
Missense
SNP
0.449
NDND-
CLIC5-
-
-
-
5Amp-
CLK2-
-
-
-
3Gain-
CLMN-
-
-
-
1Loss-
CLPS-
-
-
-
5Amp-
CLPSL1-
-
-
-
5Amp-
CLPSL2-
-
-
-
5Amp-
CLTA-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CMTR1-
-
-
-
5Amp-
CMYA5p.W3979*
Nonsense
SNP
0.474
2--
CNBD2-
-
-
-
3Gain-
CNGB3p.M345I
Missense
SNP
0.605
2--
CNIH3-
-
-
-
1Loss-
CNIH4-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNN2p.S136F
Missense
SNP
0.538
2--
CNOT4-
-
-
-
1Loss-
CNPY1-
-
-
-
1Loss-
CNPY3-
-
-
-
5Amp-
CNR1-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN2-
-
-
-
3Gain-
CNTN5p.P307S
Missense
SNP
0.458
2--
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTRLp.T2005I
Missense
SNP
0.385
2--
COA1p.P66S
Missense
SNP
0.448
2--
COA6-
-
-
-
3Gain-
COBLp.P1006S
Missense
SNP
0.436
2--
COG2-
-
-
-
1Loss-
COG5-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A1p.E140K
Missense
SNP
1.000
2--
COL11A2-
-
-
-
5Amp-
COL12A1-
-
-
-
1Loss-
COL13A1p.G382E
Missense
SNP
1.000
1Loss-
COL15A1-
-
-
-
3Gain-
COL19A1-
-
-
-
1Loss-
COL20A1-
-
-
-
3Gain-
COL2A1p.P268S
Missense
SNP
0.392
2--
COL3A1p.A487V
Missense
SNP
0.489
2--
COL4A4p.P151S
Missense
SNP
0.531
2--
COL5A1-
-
-
-
1Loss-
COL6A3p.E1814K
Missense
SNP
0.417
2--
COL6A6p.G464R
Missense
SNP
0.487
2--
COL8A1p.P304L
Missense
SNP
0.430
2--
COL9A1-
-
-
-
1Loss-
COL9A3-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPE-
-
-
-
3Gain-
COPG2-
-
-
-
1Loss-
COQ3-
-
-
-
1Loss-
COQ8A-
-
-
-
1Loss-
CORO2A-
-
-
-
3Gain-
COX4I2-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPA1p.E321K
Missense
SNP
1.000
1Loss-
CPA2-
-
-
-
1Loss-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPED1-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE1-
-
-
-
4Gain-
CPNE2p.S101F
p.Q529*
Missense
Nonsense
SNP
DNP
0.522
0.451
2--
CPNE4p.E445D
Missense
SNP
0.478
2--
CPNE5p.D413N
Missense
SNP
0.285
5Amp-
CPSF2-
-
-
-
1Loss-
CPXM1p.Y660H
Missense
SNP
0.497
2--
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CREB3-
-
-
-
1Loss-
CREB3L2-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CREM-
-
-
-
3Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIP3-
-
-
-
5Amp-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRYBG1-
-
-
-
1Loss-
CRYGN-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CSE1L-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
1Loss-
CSMD1p.D990N
Missense
SNP
0.448
2--
CSMD3p.S2527F
Missense
SNP
0.516
2--
CSNK1E-
-
-
-
3Gain-
CSNK2B-
-
-
-
4Gain-
CSRP1-
-
-
-
3Gain-
CST8p.V31G
Missense
SNP
0.455
2--
CSTF1-
-
-
-
3Gain-
CSTF2T-
-
-
-
1Loss-
CSTL1p.R69*
Nonsense
SNP
0.538
2--
CTAGE4-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTAGE9-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTF1-
-
-
-
3Gain-
CTGF-
-
-
-
1Loss-
CTNNA3p.E866K
Missense
SNP
1.000
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNBL1-
-
-
-
3Gain-
CTSA-
-
-
-
3Gain-
CTSDp.P36L
Missense
SNP
0.536
2--
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CUBN-
-
-
-
3Gain-
CUL1-
-
-
-
1Loss-
CUL2-
-
-
-
3Gain-
CUL7-
-
-
-
5Amp-
CUL9-
-
-
-
5Amp-
CUTA-
-
-
-
5Amp-
CUX1p.V981L
Missense
SNP
0.465
2--
CXCL12-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R4-
-
-
-
1Loss-
CYP21A2-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP2C9p.S390F
Missense
SNP
0.465
2--
CYP39A1-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP4Z1p.E252K
Missense
SNP
1.000
2--
DAAM2-
-
-
-
5Amp-
DAB1p.S495L
Missense
SNP
1.000
2--
DACT2-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DAXX-
-
-
-
5Amp-
DBH-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DCAF10-
-
-
-
1Loss-
DCAF12p.V331L
Missense
SNP
1.000
1Loss-
DCAF12L2p.H153Y
Missense
SNP
0.505
NDND-
DCAF4L1p.P355S
Missense
SNP
0.439
2--
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCBLD1-
-
-
-
1Loss-
DCDC2-
-
-
-
5Amp-
DCLRE1C-
-
-
-
3Gain-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCTN3-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DDAH2-
-
-
-
4Gain-
DDIT4-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
4Gain-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX31-
-
-
-
1Loss-
DDX39B-
-
-
-
4Gain-
DDX43-
-
-
-
1Loss-
DDX49-
-
-
-
3Gain-
DDX50-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEF6-
-
-
-
5Amp-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DEK-
-
-
-
5Amp-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DGKBp.G537E
Missense
SNP
0.536
2--
DGKG-
-
-
-
3Gain-
DGKI-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHTKD1-
-
-
-
3Gain-
DHX16-
-
-
-
4Gain-
DHX35-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DICER1-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2C-
-
-
-
3Gain-
DISC1-
-
-
-
1Loss-
DISP1-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DLD-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLGAP4-
-
-
-
3Gain-
DLK1-
-
-
-
1Loss-
DLK2-
-
-
-
5Amp-
DLL1-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAH10p.Q2641R
Missense
SNP
0.529
2--
DNAH14-
-
-
-
1Loss-
DNAH3p.S3779F
Missense
SNP
0.481
2--
DNAH7p.D3374N
p.G1614E
Missense
Missense
SNP
SNP
0.543
0.413
2--
DNAH8-
-
-
-
5Amp-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJA4-
-
-
-
3Gain-
DNAJB11-
-
-
-
3Gain-
DNAJB5-
-
-
-
1Loss-
DNAJB6-
-
-
-
1Loss-
DNAJB9-
-
-
-
1Loss-
DNAJC1-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC2-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT1p.S869F
Missense
DNP
0.548
2--
DNMT3B-
-
-
-
3Gain-
DNPH1-
-
-
-
5Amp-
DNTTIP1-
-
-
-
3Gain-
DOCK4-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOCK9p.S166F
Missense
SNP
0.415
2--
DOK5-
-
-
-
3Gain-
DOP1A-
-
-
-
1Loss-
DOPEY2p.P76L
Missense
SNP
0.457
NDND-
DPCR1p.E824K
Missense
SNP
0.227
NDND-
DPM1-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP6-
-
-
-
1Loss-
DPPA5-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DRGX-
-
-
-
1Loss-
DRICH1p.P228S
Missense
SNP
0.396
2--
DSCAMp.E1990K
p.R1894W
Missense
Missense
SNP
SNP
0.347
0.476
2--
DSE-
-
-
-
1Loss-
DSG1p.G687E
Missense
SNP
0.454
2--
DSG2p.L586F
Missense
SNP
0.457
2--
DSG4p.S284G
Missense
SNP
0.492
2--
DSN1-
-
-
-
3Gain-
DSP-
-
-
-
5Amp-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNBP1-
-
-
-
5Amp-
DTX1p.D501N
Missense
SNP
0.548
2--
DUPD1p.T35I
Missense
SNP
0.528
2--
DUS4L-
-
-
-
1Loss-
DUSP10-
-
-
-
1Loss-
DUSP12-
-
-
-
3Gain-
DUSP15-
-
-
-
3Gain-
DUSP22-
-
-
-
5Amp-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP9p.E353K
Missense
SNP
0.481
NDND-
DVL3-
-
-
-
3Gain-
DXO-
-
-
-
4Gain-
DYNC1H1-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYNLT1-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F3-
-
-
-
5Amp-
EBLN1p.N6H
Missense
SNP
0.642
3Gain-
ECE2-
-
-
-
3Gain-
ECEL1p.V510I
Missense
SNP
0.489
2--
ECHDC1-
-
-
-
1Loss-
ECHDC3-
-
-
-
3Gain-
ECI2-
-
-
-
5Amp-
ECM1-
-
-
-
3Gain-
ECT2-
-
-
-
3Gain-
ECT2L-
-
-
-
1Loss-
EDAp.P199L
Missense
SNP
0.462
NDND-
EDARADD-
-
-
-
3Gain-
EDEM2-
-
-
-
4Gain-
EDEM3-
-
-
-
3Gain-
EDN1-
-
-
-
5Amp-
EDN3-
-
-
-
3Gain-
EEF1A1-
-
-
-
1Loss-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1E1-
-
-
-
5Amp-
EEF1E1-BLOC1S5-
-
-
-
5Amp-
EEPD1p.X439_splice
Splice_Site
SNP
0.404
2--
EFCAB10-
-
-
-
1Loss-
EFCAB11-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFHC1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EGFL8-
-
-
-
5Amp-
EGLN1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EHMT2-
-
-
-
4Gain-
EIF2AK4p.P1145S
Missense
SNP
0.519
2--
EIF2B5-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF2S2-
-
-
-
3Gain-
EIF3Lp.F34L
Missense
SNP
0.310
3Gain-
EIF4A2-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
EIF6-
-
-
-
4Gain-
ELAVL2-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELOVL2-
-
-
-
5Amp-
ELOVL4-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
EN2-
-
-
-
1Loss-
ENAH-
-
-
-
1Loss-
ENHO-
-
-
-
1Loss-
ENKUR-
-
-
-
3Gain-
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP4-
-
-
-
5Amp-
ENPP5-
-
-
-
5Amp-
ENSA-
-
-
-
3Gain-
EPB41L1-
-
-
-
3Gain-
EPB41L2-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPHA1-
-
-
-
1Loss-
EPHA7-
-
-
-
1Loss-
EPHB3-
-
-
-
3Gain-
EPHB6-
-
-
-
1Loss-
EPHX1-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1p.G2113R
Missense
SNP
0.493
2--
EPRSp.D884Y
Missense
SNP
1.000
1Loss-
EQTN-
-
-
-
1Loss-
ERBB2p.R536W
Missense
SNP
0.545
2--
ERCC6-
-
-
-
1Loss-
ERGp.T41I
Missense
SNP
0.496
2--
ERGIC3-
-
-
-
4Gain-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERV3-1-
-
-
-
1Loss-
ERVFRD-1-
-
-
-
5Amp-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESYT2-
-
-
-
1Loss-
ETFDHp.G213E
Missense
SNP
0.629
2--
ETNK2-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
ETV7-
-
-
-
5Amp-
EVL-
-
-
-
1Loss-
EXOC2-
-
-
-
5Amp-
EXOC3L4-
-
-
-
1Loss-
EXOC8-
-
-
-
1Loss-
EXOSC2-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EYA2-
-
-
-
3Gain-
EYA4p.P271S
Missense
SNP
0.992
1Loss-
EYS-
-
-
-
1Loss-
EZH2-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13A1-
-
-
-
5Amp-
F13B-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
FABP7-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM117Ap.L409F
Missense
SNP
0.492
2--
FAM120B-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM131A-
-
-
-
3Gain-
FAM131B-
-
-
-
1Loss-
FAM133Ap.A57T
Missense
SNP
0.500
NDND-
FAM135A-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM163B-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM177B-
-
-
-
1Loss-
FAM180A-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM184Ap.G303E
Missense
SNP
1.000
1Loss-
FAM185A-
-
-
-
1Loss-
FAM189B-
-
-
-
3Gain-
FAM205A-
-
-
-
1Loss-
FAM206A-
-
-
-
3Gain-
FAM208Bp.R809*
Nonsense
SNP
0.227
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214B-
-
-
-
1Loss-
FAM217A-
-
-
-
5Amp-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM229B-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM3Ap.D104N
Missense
SNP
0.516
NDND-
FAM3C-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM50B-
-
-
-
5Amp-
FAM71A-
-
-
-
3Gain-
FAM71Dp.D34N
Missense
SNP
0.479
2--
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM78A-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83Bp.S764F
Missense
SNP
0.566
2--
FAM83C-
-
-
-
4Gain-
FAM83D-
-
-
-
3Gain-
FAM89A-
-
-
-
1Loss-
FAM8A1-
-
-
-
5Amp-
FAM95C-
-
-
-
1Loss-
FANCE-
-
-
-
5Amp-
FANCG-
-
-
-
1Loss-
FANCMp.I874F
Missense
SNP
0.500
2--
FARS2-
-
-
-
5Amp-
FASLG-
-
-
-
3Gain-
FASTK-
-
-
-
1Loss-
FAT3p.D2129N
Missense
SNP
0.467
2--
FAXC-
-
-
-
1Loss-
FBH1-
-
-
-
3Gain-
FBLN5-
-
-
-
1Loss-
FBRS-
-
-
-
3Gain-
FBXL13-
-
-
-
1Loss-
FBXL19-
-
-
-
3Gain-
FBXL4-
-
-
-
1Loss-
FBXO10-
-
-
-
1Loss-
FBXO28-
-
-
-
1Loss-
FBXO30-
-
-
-
1Loss-
FBXO45-
-
-
-
3Gain-
FBXO5-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5p.P571L
Missense
SNP
0.350
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEZF1-
-
-
-
1Loss-
FGD2-
-
-
-
5Amp-
FGF12-
-
-
-
3Gain-
FGFR1OP-
-
-
-
1Loss-
FHAD1p.KD378NN
Missense
DNP
1.000
2--
FHL5-
-
-
-
1Loss-
FIBCD1-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FILIP1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FKBP15p.P971L
Missense
SNP
0.537
2--
FKBP1C-
-
-
-
1Loss-
FKBP5-
-
-
-
5Amp-
FKBPL-
-
-
-
5Amp-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLNAp.P1244S
Missense
SNP
0.465
NDND-
FLNCp.E600K
Missense
SNP
1.000
1Loss-
FLOT1-
-
-
-
4Gain-
FLRT2-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FMC1-
-
-
-
1Loss-
FMN1-
-
-
-
5Amp-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNBP1-
-
-
-
1Loss-
FNDC1p.E332K
Missense
SNP
1.000
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC3B-
-
-
-
3Gain-
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOXC1-
-
-
-
5Amp-
FOXF2-
-
-
-
5Amp-
FOXN3-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FOXP4-
-
-
-
5Amp-
FOXQ1-
-
-
-
5Amp-
FOXS1-
-
-
-
3Gain-
FREM1-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4A-
-
-
-
3Gain-
FRMPD1-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRRS1L-
-
-
-
3Gain-
FRS3-
-
-
-
5Amp-
FSCN3-
-
-
-
1Loss-
FSIP1p.G481D
Missense
SNP
0.520
2--
FUBP3-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUNDC2p.G45R
Missense
SNP
0.564
NDND-
FUT9-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXYD4-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD8-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
GAB4p.G27I
Missense
DNP
0.412
2--
GABBR1-
-
-
-
4Gain-
GABBR2-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRG1p.T387I
Missense
SNP
0.548
2--
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GAD2-
-
-
-
3Gain-
GALC-
-
-
-
1Loss-
GALNT11-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT15p.MD282IN
Missense
DNP
0.483
2--
GALNT2-
-
-
-
1Loss-
GALNTL5-
-
-
-
1Loss-
GALR3-
-
-
-
3Gain-
GALT-
-
-
-
1Loss-
GATA3-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GBX1-
-
-
-
1Loss-
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
1Loss-
GCM2-
-
-
-
5Amp-
GCN1p.P467S
Missense
SNP
0.487
2--
GCNT2-
-
-
-
5Amp-
GCNT7-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDF1-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF5-
-
-
-
4Gain-
GDI2-
-
-
-
3Gain-
GFI1Bp.A228T
Missense
SNP
1.000
1Loss-
GFOD1-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT7-
-
-
-
3Gain-
GH2p.Q222P
Missense
SNP
0.487
2--
GHRH-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GIMAP1-
-
-
-
1Loss-
GIMAP1-GIMAP5-
-
-
-
1Loss-
GIMAP2-
-
-
-
1Loss-
GIMAP4-
-
-
-
1Loss-
GIMAP5-
-
-
-
1Loss-
GIMAP6-
-
-
-
1Loss-
GIMAP7-
-
-
-
1Loss-
GIMAP8p.E605A
Missense
SNP
1.000
1Loss-
GINM1-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB7-
-
-
-
1Loss-
GJC2-
-
-
-
1Loss-
GJD4-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLO1-
-
-
-
5Amp-
GLOD5p.S7F
p.P98S
Missense
Missense
SNP
SNP
0.528
0.517
NDND-
GLP1R-
-
-
-
5Amp-
GLRX2-
-
-
-
3Gain-
GLRX5-
-
-
-
1Loss-
GLT6D1-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GMDS-
-
-
-
5Amp-
GMEB2-
-
-
-
3Gain-
GMIPp.R926Q
Missense
DNP
0.483
2--
GMNC-
-
-
-
3Gain-
GMNNp.E11D
Missense
SNP
0.634
5Amp-
GMPR-
-
-
-
5Amp-
GNAS-
-
-
-
3Gain-
GNB4-
-
-
-
3Gain-
GNE-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNL1-
-
-
-
4Gain-
GNMT-
-
-
-
5Amp-
GNPAT-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGB1p.K926Q
Missense
SNP
0.542
2--
GOLIM4-
-
-
-
3Gain-
GOLPH3p.P163L
Missense
SNP
0.522
2--
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
1Loss-
GOPC-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GOT1L1p.G355R
Missense
SNP
0.385
2--
GP5-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPANK1-
-
-
-
4Gain-
GPATCH2-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPLD1p.G421D
Missense
SNP
0.424
5Amp-
GPR107-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR156p.E591K
Missense
SNP
0.484
2--
GPR158-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR179-
-
-
-
3Gain-
GPR22-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR37-
-
-
-
1Loss-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR6-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR85-
-
-
-
1Loss-
GPR89B-
-
-
-
3Gain-
GPRC6A-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPSM3-
-
-
-
5Amp-
GPX5-
-
-
-
4Gain-
GPX6-
-
-
-
4Gain-
GREM1-
-
-
-
5Amp-
GRHPR-
-
-
-
1Loss-
GRID2p.R345Q
Missense
SNP
0.473
2--
GRIK2-
-
-
-
1Loss-
GRIN3Ap.R1108K
p.P219L
Missense
Missense
SNP
SNP
0.554
0.361
2--
GRM1-
-
-
-
1Loss-
GRM4-
-
-
-
5Amp-
GRM8-
-
-
-
1Loss-
GRPRp.S372N
Missense
SNP
0.478
NDND-
GRXCR2p.P71S
Missense
SNP
0.462
2--
GSC-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSS-
-
-
-
3Gain-
GSTK1-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2H4-
-
-
-
4Gain-
GTF2H5-
-
-
-
1Loss-
GTF3C4-
-
-
-
1Loss-
GTF3C5-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTPBP2-
-
-
-
5Amp-
GTPBP4-
-
-
-
3Gain-
GTSF1L-
-
-
-
3Gain-
GUCA1A-
-
-
-
5Amp-
GUCA1B-
-
-
-
5Amp-
GUK1-
-
-
-
1Loss-
GVQW2-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
H2AFY2-
-
-
-
1Loss-
H3F3A-
-
-
-
1Loss-
HACD1-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAUS6-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBP1-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HDAC2-
-
-
-
1Loss-
HDAC7p.P500L
Missense
SNP
0.455
2--
HDAC9p.H170Y
Missense
SNP
0.477
2--
HDDC2-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL1-
-
-
-
5Amp-
HEATR1p.G1956D
p.E1296K
Missense
Missense
SNP
SNP
0.350
0.294
3Gain-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HELZ2p.P1812L
Missense
SNP
0.343
3Gain-
HEMGN-
-
-
-
3Gain-
HERC4-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
5Amp-
HHAT-
-
-
-
3Gain-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
1Loss-
HILPDA-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIPK2-
-
-
-
1Loss-
HIST1H1A-
-
-
-
5Amp-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
5Amp-
HIST1H1D-
-
-
-
5Amp-
HIST1H1E-
-
-
-
5Amp-
HIST1H1T-
-
-
-
5Amp-
HIST1H2AA-
-
-
-
5Amp-
HIST1H2AB-
-
-
-
5Amp-
HIST1H2AC-
-
-
-
5Amp-
HIST1H2AD-
-
-
-
5Amp-
HIST1H2AE-
-
-
-
5Amp-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
5Amp-
HIST1H2BB-
-
-
-
5Amp-
HIST1H2BC-
-
-
-
5Amp-
HIST1H2BD-
-
-
-
5Amp-
HIST1H2BE-
-
-
-
5Amp-
HIST1H2BF-
-
-
-
5Amp-
HIST1H2BG-
-
-
-
5Amp-
HIST1H2BH-
-
-
-
5Amp-
HIST1H2BI-
-
-
-
5Amp-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
5Amp-
HIST1H3B-
-
-
-
5Amp-
HIST1H3C-
-
-
-
5Amp-
HIST1H3D-
-
-
-
5Amp-
HIST1H3E-
-
-
-
5Amp-
HIST1H3F-
-
-
-
5Amp-
HIST1H3G-
-
-
-
5Amp-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
5Amp-
HIST1H4B-
-
-
-
5Amp-
HIST1H4C-
-
-
-
5Amp-
HIST1H4D-
-
-
-
5Amp-
HIST1H4E-
-
-
-
5Amp-
HIST1H4F-
-
-
-
5Amp-
HIST1H4G-
-
-
-
5Amp-
HIST1H4H-
-
-
-
5Amp-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIST3H2A-
-
-
-
1Loss-
HIST3H2BB-
-
-
-
1Loss-
HIST3H3-
-
-
-
1Loss-
HIVEP1-
-
-
-
5Amp-
HIVEP2-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLA-A-
-
-
-
4Gain-
HLA-B-
-
-
-
4Gain-
HLA-C-
-
-
-
4Gain-
HLA-DMA-
-
-
-
5Amp-
HLA-DMB-
-
-
-
5Amp-
HLA-DOA-
-
-
-
5Amp-
HLA-DOB-
-
-
-
5Amp-
HLA-DPA1-
-
-
-
5Amp-
HLA-DPB1-
-
-
-
5Amp-
HLA-DQA1-
-
-
-
5Amp-
HLA-DQA2-
-
-
-
5Amp-
HLA-DQB1-
-
-
-
5Amp-
HLA-DQB2-
-
-
-
5Amp-
HLA-DRA-
-
-
-
5Amp-
HLA-DRB1-
-
-
-
5Amp-
HLA-DRB5-
-
-
-
5Amp-
HLA-E-
-
-
-
4Gain-
HLA-F-
-
-
-
4Gain-
HLA-G-
-
-
-
4Gain-
HLX-
-
-
-
1Loss-
HM13-
-
-
-
3Gain-
HMCN1-
-
-
-
3Gain-
HMCN2-
-
-
-
1Loss-
HMGA1-
-
-
-
5Amp-
HMGCLL1p.G332S
Missense
SNP
0.424
2--
HMGCS2p.D101N
Missense
SNP
1.000
2--
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HNF4A-
-
-
-
3Gain-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HOMER3-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HPF1p.T207I
Missense
SNP
0.433
2--
HPGDSp.W190*
Nonsense
DNP
0.554
2--
HPS4-
-
-
-
3Gain-
HPS5p.R366K
Missense
SNP
0.415
2--
HRASLS-
-
-
-
3Gain-
HRCT1-
-
-
-
1Loss-
HRG-
-
-
-
3Gain-
HRH3-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS3ST5-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSD17B8-
-
-
-
5Amp-
HSD3B7-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSP90AB1-
-
-
-
5Amp-
HSPA14-
-
-
-
3Gain-
HSPA1A-
-
-
-
4Gain-
HSPA1B-
-
-
-
4Gain-
HSPA1L-
-
-
-
4Gain-
HSPA6-
-
-
-
3Gain-
HTR1B-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR3Ap.S401F
Missense
SNP
0.488
2--
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR5A-
-
-
-
1Loss-
HUS1B-
-
-
-
5Amp-
HYAL4-
-
-
-
1Loss-
IARS2-
-
-
-
1Loss-
IBA57-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ID1-
-
-
-
3Gain-
ID4-
-
-
-
5Amp-
IDH3A-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IER3-
-
-
-
4Gain-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
0Del-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
0Del-
IFNA16-
-
-
-
0Del-
IFNA17-
-
-
-
0Del-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
0Del-
IFNA4-
-
-
-
0Del-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
0Del-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGF2R-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGHV3OR16-9-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL11RA-
-
-
-
1Loss-
IL15RA-
-
-
-
3Gain-
IL17A-
-
-
-
3Gain-
IL17F-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL1RAP-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL33-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL7Rp.S383F
Missense
SNP
0.476
2--
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMMP2L-
-
-
-
1Loss-
IMPDH1-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INCENPp.P200S
Missense
SNP
0.525
2--
INF2-
-
-
-
1Loss-
ING3-
-
-
-
1Loss-
INO80Dp.G988S
Missense
SNP
0.514
2--
INSIG1-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS6Lp.S859L
Missense
SNP
0.458
NDND-
INTS7-
-
-
-
3Gain-
INVS-
-
-
-
3Gain-
IP6K3-
-
-
-
5Amp-
IPCEF1-
-
-
-
1Loss-
IPO8p.A502V
Missense
SNP
0.604
2--
IPO9-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQUB-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF4-
-
-
-
5Amp-
IRF5-
-
-
-
1Loss-
IRF6-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITGA8-
-
-
-
3Gain-
ITGADp.A13S
Missense
SNP
0.403
2--
ITGB1-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITLN1p.G227S
Missense
SNP
0.644
3Gain-
ITLN2-
-
-
-
3Gain-
ITPK1-
-
-
-
1Loss-
ITPKB-
-
-
-
1Loss-
ITPR3-
-
-
-
5Amp-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JARID2-
-
-
-
5Amp-
JCAD-
-
-
-
3Gain-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
1Loss-
JPH2p.E519D
Missense
SNP
0.719
3Gain-
JTB-
-
-
-
3Gain-
KAAG1-
-
-
-
5Amp-
KALRNp.S493F
Missense
SNP
0.479
2--
KANK1-
-
-
-
1Loss-
KANK2p.S33F
Missense
SNP
0.415
2--
KAT8-
-
-
-
3Gain-
KATNA1-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2p.A482T
Missense
SNP
0.452
2--
KCND2-
-
-
-
1Loss-
KCNG1p.D187N
Missense
SNP
0.306
3Gain-
KCNH1-
-
-
-
3Gain-
KCNH2p.S936T
Missense
SNP
1.000
1Loss-
KCNH5p.E644K
Missense
SNP
0.502
2--
KCNJ10-
-
-
-
3Gain-
KCNJ4-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK12p.A144T
Missense
DNP
0.470
2--
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK16-
-
-
-
5Amp-
KCNK17-
-
-
-
5Amp-
KCNK2-
-
-
-
3Gain-
KCNK5-
-
-
-
5Amp-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNQ2-
-
-
-
3Gain-
KCNQ3p.P457S
Missense
SNP
0.459
2--
KCNQ5-
-
-
-
1Loss-
KCNS1-
-
-
-
3Gain-
KCNT1-
-
-
-
1Loss-
KCNT2-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
1Loss-
KCTD20-
-
-
-
5Amp-
KCTD3-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDM1B-
-
-
-
5Amp-
KDM3Ap.S450L
Missense
SNP
0.492
2--
KDM4C-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KDM7A-
-
-
-
1Loss-
KEL-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS2-
-
-
-
1Loss-
KIAA0040-
-
-
-
3Gain-
KIAA0196p.P1001S
Missense
SNP
0.438
NDND-
KIAA0319-
-
-
-
5Amp-
KIAA0408-
-
-
-
1Loss-
KIAA1147-
-
-
-
1Loss-
KIAA1217p.E1709K
Missense
SNP
0.337
3Gain-
KIAA1324Lp.Q683*
Nonsense
SNP
0.415
2--
KIAA1549p.P135S
Missense
SNP
1.000
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1755p.S576F
Missense
SNP
0.367
3Gain-
KIAA2026-
-
-
-
1Loss-
KIF13A-
-
-
-
5Amp-
KIF14p.P910S
Missense
SNP
0.653
3Gain-
KIF1BP-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF24-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF3B-
-
-
-
3Gain-
KIF5B-
-
-
-
3Gain-
KIF6-
-
-
-
5Amp-
KIFAP3-
-
-
-
3Gain-
KIFC1-
-
-
-
5Amp-
KIN-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLp.S596F
p.S727F
p.R979Q
Missense
Missense
Missense
SNP
SNP
SNP
0.486
0.492
0.399
2--
KLC1-
-
-
-
1Loss-
KLC4-
-
-
-
5Amp-
KLF14-
-
-
-
1Loss-
KLF6-
-
-
-
3Gain-
KLHDC10-
-
-
-
1Loss-
KLHDC3-
-
-
-
5Amp-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL32-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLRG2-
-
-
-
1Loss-
KMT2C-
-
-
-
1Loss-
KMT2E-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KNSTRNp.E5K
Missense
SNP
0.512
2--
KPNA5-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRBA1-
-
-
-
1Loss-
KRT7p.R276W
Missense
DNP
0.444
2--
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP13-1p.R155K
Missense
DNP
0.439
2--
KRTCAP2-
-
-
-
3Gain-
L3MBTL1-
-
-
-
3Gain-
L3MBTL3-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAMA2-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
1Loss-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMC3-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LARGE1p.E73K
Missense
SNP
0.495
2--
LARP4B-
-
-
-
3Gain-
LATS1-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBR-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCE4A-
-
-
-
3Gain-
LCN1-
-
-
-
1Loss-
LCN9-
-
-
-
1Loss-
LEFTY1-
-
-
-
1Loss-
LEFTY2-
-
-
-
1Loss-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LEMD2-
-
-
-
5Amp-
LENEP-
-
-
-
3Gain-
LEP-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGMN-
-
-
-
1Loss-
LGR6-
-
-
-
3Gain-
LGSN-
-
-
-
1Loss-
LHFPL3-
-
-
-
1Loss-
LHFPL5-
-
-
-
5Amp-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIFRp.G566E
p.W246C
Missense
Missense
SNP
SNP
0.445
0.435
2--
LIMCH1p.G369R
Missense
SNP
0.531
2--
LIME1-
-
-
-
3Gain-
LIN28B-
-
-
-
1Loss-
LIN9-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPH-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
3Gain-
LLCFC1-
-
-
-
1Loss-
LMBR1-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMBRD2p.E236K
Missense
SNP
0.525
2--
LMLN-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
1Loss-
LMX1Ap.T200I
Missense
SNP
0.273
3Gain-
LOR-
-
-
-
3Gain-
LPA-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
3Gain-
LPOp.I676M
Missense
SNP
0.456
2--
LPP-
-
-
-
3Gain-
LRBAp.K1099N
Missense
SNP
0.479
2--
LRCH3-
-
-
-
3Gain-
LRFN2-
-
-
-
5Amp-
LRP11-
-
-
-
1Loss-
LRRC15-
-
-
-
3Gain-
LRRC17-
-
-
-
1Loss-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC39p.D187N
Missense
SNP
1.000
2--
LRRC4-
-
-
-
1Loss-
LRRC4Bp.E493K
Missense
SNP
0.564
2--
LRRC52-
-
-
-
3Gain-
LRRC61-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC73-
-
-
-
5Amp-
LRRIQ1p.V606G
p.K1588E
Missense
Missense
SNP
SNP
0.468
0.471
2--
LRRIQ4-
-
-
-
3Gain-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
1Loss-
LRRN4p.P21L
Missense
SNP
0.427
2--
LRRTM3-
-
-
-
1Loss-
LSG1-
-
-
-
3Gain-
LSM14B-
-
-
-
3Gain-
LSM2-
-
-
-
4Gain-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LST1-
-
-
-
4Gain-
LTA-
-
-
-
4Gain-
LTB-
-
-
-
4Gain-
LTBP2p.R1600C
Missense
SNP
0.535
2--
LTV1-
-
-
-
1Loss-
LUC7L2-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
1Loss-
LY6G5B-
-
-
-
4Gain-
LY6G5C-
-
-
-
4Gain-
LY6G6C-
-
-
-
4Gain-
LY6G6D-
-
-
-
4Gain-
LY6G6E-
-
-
-
4Gain-
LY6G6F-
-
-
-
4Gain-
LY6G6F-LY6G6D-
-
-
-
4Gain-
LY86-
-
-
-
5Amp-
LY9-
-
-
-
3Gain-
LYPLAL1-
-
-
-
1Loss-
LYRM2-
-
-
-
1Loss-
LYRM4-
-
-
-
5Amp-
LYSMD1-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZL1-
-
-
-
3Gain-
LYZL2-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
5Amp-
MAEL-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
3Gain-
MAGEA10p.P49S
Missense
SNP
0.560
NDND-
MAGEB17p.Q187*
Nonsense
SNP
0.490
NDND-
MAGEC1p.P691S
p.P711S
Missense
Missense
SNP
SNP
0.446
0.510
NDND-
MAGEE2p.E25K
Missense
SNP
0.517
NDND-
MAGEF1-
-
-
-
3Gain-
MAK-
-
-
-
5Amp-
MALRD1-
-
-
-
3Gain-
MAMLD1p.S539P
Missense
SNP
0.536
NDND-
MAN1A1-
-
-
-
1Loss-
MAN2C1p.S966F
Missense
SNP
0.465
2--
MANBAL-
-
-
-
3Gain-
MANEA-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
3Gain-
MAP2K5p.L260F
Missense
SNP
0.451
2--
MAP3K13-
-
-
-
3Gain-
MAP3K19p.G1189R
Missense
SNP
0.541
2--
MAP3K2p.P298S
Missense
SNP
0.568
2--
MAP3K21-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP3K8p.P117S
Missense
SNP
0.678
3Gain-
MAP6D1-
-
-
-
3Gain-
MAP7-
-
-
-
1Loss-
MAP7D1p.Q772*
Nonsense
SNP
1.000
2--
MAPK13-
-
-
-
5Amp-
MAPK14-
-
-
-
5Amp-
MAPK8-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MARC1-
-
-
-
1Loss-
MARC2-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARK1-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
4Gain-
MASP1-
-
-
-
3Gain-
MAST1p.E422K
Missense
SNP
0.481
2--
MASTL-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MB21D2-
-
-
-
3Gain-
MBL2-
-
-
-
1Loss-
MBOAT1-
-
-
-
5Amp-
MC2R-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MCCC1-
-
-
-
3Gain-
MCCD1-
-
-
-
4Gain-
MCF2p.N323Y
Missense
SNP
0.506
NDND-
MCF2L2-
-
-
-
3Gain-
MCHR2-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MCM3-
-
-
-
3Gain-
MCM9-
-
-
-
1Loss-
MCTS2P-
-
-
-
3Gain-
MCUR1-
-
-
-
5Amp-
MDC1-
-
-
-
4Gain-
MDFI-
-
-
-
5Amp-
MDFIC-
-
-
-
1Loss-
MDGA1-
-
-
-
5Amp-
MDM4-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
MEA1-
-
-
-
5Amp-
MECOM-
-
-
-
3Gain-
MED20-
-
-
-
5Amp-
MED22-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED27-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEI4-
-
-
-
1Loss-
MEIG1-
-
-
-
3Gain-
MEIOCp.W100L
Missense
SNP
0.492
2--
MELK-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEP1A-
-
-
-
3Gain-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL24-
-
-
-
1Loss-
METTL2B-
-
-
-
1Loss-
METTL8p.S224F
Missense
SNP
0.481
2--
MEX3A-
-
-
-
3Gain-
MFN1-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MGAM-
-
-
-
1Loss-
MGAM2p.G440E
Missense
SNP
1.000
1Loss-
MGAT5Bp.P445L
Missense
SNP
0.431
2--
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
1Loss-
MICA-
-
-
-
4Gain-
MICAL1-
-
-
-
1Loss-
MICALL1-
-
-
-
3Gain-
MICB-
-
-
-
4Gain-
MINDY1-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MIXL1-
-
-
-
1Loss-
MKLN1-
-
-
-
1Loss-
MKRN1-
-
-
-
1Loss-
MKX-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLIPp.S183Y
Missense
SNP
0.425
2--
MLLT10-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLN-
-
-
-
5Amp-
MMP21p.K423E
p.P210S
Missense
Missense
SNP
SNP
0.485
0.493
2--
MMP24-
-
-
-
4Gain-
MMP9-
-
-
-
3Gain-
MMS22L-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNX1-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOCS1-
-
-
-
5Amp-
MOCS3-
-
-
-
3Gain-
MOG-
-
-
-
4Gain-
MOK-
-
-
-
1Loss-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDZ-
-
-
-
1Loss-
MPIG6B-
-
-
-
4Gain-
MPP7-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP2-
-
-
-
1Loss-
MRC1-
-
-
-
3Gain-
MRC2p.G1104S
Missense
SNP
0.494
2--
MRGBP-
-
-
-
3Gain-
MRGPRX1p.L227I
Missense
SNP
0.302
2--
MROH8-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL14-
-
-
-
5Amp-
MRPL18-
-
-
-
1Loss-
MRPL2-
-
-
-
5Amp-
MRPL24-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPL55-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
5Amp-
MRPS14-
-
-
-
3Gain-
MRPS18A-
-
-
-
5Amp-
MRPS18B-
-
-
-
4Gain-
MRPS2-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS33-
-
-
-
1Loss-
MRS2-
-
-
-
5Amp-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSH5-
-
-
-
4Gain-
MSH5-SAPCD1-
-
-
-
4Gain-
MSMB-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MSRB2-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTA1-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH1-
-
-
-
5Amp-
MTFR2-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1L-
-
-
-
1Loss-
MTM1p.P589H
Missense
SNP
0.464
NDND-
MTNR1Bp.D184N
Missense
SNP
0.473
2--
MTO1-
-
-
-
1Loss-
MTPAP-
-
-
-
3Gain-
MTPN-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC15p.E340Q
Missense
SNP
0.487
2--
MUC16p.E9221K
p.P2256L
Missense
Missense
SNP
SNP
0.442
0.452
2--
MUC20-
-
-
-
3Gain-
MUC21-
-
-
-
4Gain-
MUC22-
-
-
-
4Gain-
MUC4-
-
-
-
3Gain-
MUCL3-
-
-
-
4Gain-
MXRA5p.E1025K
Missense
SNP
0.378
NDND-
MYB-
-
-
-
1Loss-
MYBL2-
-
-
-
3Gain-
MYBPC1p.G760R
Missense
SNP
0.479
2--
MYBPC2p.E24K
Missense
SNP
0.459
2--
MYBPH-
-
-
-
3Gain-
MYCT1-
-
-
-
1Loss-
MYH11p.S304R
Missense
SNP
0.417
2--
MYH13p.E1406K
Missense
DNP
0.441
2--
MYH2p.E330K
Missense
SNP
0.455
2--
MYH4p.V1931A
Missense
SNP
0.488
2--
MYH7Bp.E139K
Missense
SNP
0.675
3Gain-
MYH8p.A937V
Missense
SNP
0.512
2--
MYL9-
-
-
-
3Gain-
MYLIP-
-
-
-
5Amp-
MYLKp.E427K
Missense
SNP
0.515
2--
MYLK2-
-
-
-
3Gain-
MYLK4-
-
-
-
5Amp-
MYMK-
-
-
-
1Loss-
MYMX-
-
-
-
5Amp-
MYNN-
-
-
-
3Gain-
MYO10p.W1206*
Nonsense
SNP
0.496
2--
MYO15Ap.D509N
Missense
SNP
0.504
2--
MYO3A-
-
-
-
3Gain-
MYO5Bp.L62*
Nonsense
SNP
0.456
2--
MYO5Cp.P599S
Missense
SNP
0.466
2--
MYO6-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCDp.S819F
Missense
SNP
0.500
2--
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYORG-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
N4BP1p.L310*
Nonsense
SNP
0.517
2--
NAALADL2-
-
-
-
3Gain-
NACC2-
-
-
-
1Loss-
NAMPT-
-
-
-
1Loss-
NANS-
-
-
-
3Gain-
NAPEPLD-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBPF11-
-
-
-
1Loss-
NBPF14-
-
-
-
1Loss-
NCAPG2-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCOA3p.Q609*
Nonsense
SNP
0.331
3Gain-
NCOA4-
-
-
-
1Loss-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOA7-
-
-
-
1Loss-
NCR2-
-
-
-
5Amp-
NCR3-
-
-
-
4Gain-
NCS1-
-
-
-
1Loss-
NCSTNp.X669_splice
Splice_Site
SNP
0.714
3Gain-
NDNp.P33S
Missense
SNP
0.488
2--
NDPp.L13V
Missense
SNP
0.511
NDND-
NDRG3p.S255C
Missense
SNP
0.231
2--
NDST3p.G315E
Missense
SNP
0.552
2--
NDUFA5-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB2-
-
-
-
1Loss-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NEBp.E3317K
Missense
SNP
0.562
2--
NEBL-
-
-
-
3Gain-
NECAB3-
-
-
-
3Gain-
NECTIN4-
-
-
-
3Gain-
NEDD9-
-
-
-
5Amp-
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFCD-
-
-
-
3Gain-
NELFE-
-
-
-
4Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NEU1-
-
-
-
4Gain-
NEURL2-
-
-
-
3Gain-
NEUROG3-
-
-
-
1Loss-
NFAM1p.T139M
Missense
SNP
0.546
2--
NFASC-
-
-
-
3Gain-
NFATC2-
-
-
-
3Gain-
NFATC3p.P796L
Missense
SNP
0.460
2--
NFE4-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFKBIE-
-
-
-
5Amp-
NFKBIL1p.P147L
Missense
SNP
0.444
4Gain-
NFS1-
-
-
-
4Gain-
NFX1-
-
-
-
1Loss-
NFYA-
-
-
-
5Amp-
NHLH1-
-
-
-
3Gain-
NHLRC1-
-
-
-
5Amp-
NHSL1-
-
-
-
1Loss-
NHSL2p.W1127*
Nonsense
SNP
0.570
NDND-
NID1-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN2-
-
-
-
1Loss-
NKAIN4-
-
-
-
3Gain-
NKAPL-
-
-
-
4Gain-
NLGN1-
-
-
-
3Gain-
NLRC5p.Q855*
Nonsense
SNP
0.530
2--
NLRP14p.E1085K
Missense
SNP
0.468
2--
NLRP4p.S447F
Missense
SNP
0.489
2--
NLRP5p.M1017I
Missense
SNP
0.500
2--
NMBR-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NNAT-
-
-
-
3Gain-
NOBOX-
-
-
-
1Loss-
NOC4Lp.P200L
Missense
SNP
0.385
2--
NODAL-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL6-
-
-
-
1Loss-
NOL7-
-
-
-
3Gain-
NOM1-
-
-
-
1Loss-
NOS1p.S1207F
Missense
SNP
0.518
2--
NOS1AP-
-
-
-
3Gain-
NOS3-
-
-
-
1Loss-
NOTCH2p.Q2140*
Nonsense
SNP
1.000
2--
NOTCH4-
-
-
-
5Amp-
NOX3-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC1L1p.G1236R
Missense
SNP
0.367
2--
NPEPL1-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NQO2-
-
-
-
5Amp-
NR1I3-
-
-
-
3Gain-
NR2E1-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRASp.Q61R
Missense
SNP
1.000
2--
NRBF2-
-
-
-
1Loss-
NRCAM-
-
-
-
1Loss-
NRDE2-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRM-
-
-
-
4Gain-
NRN1-
-
-
-
5Amp-
NRP1-
-
-
-
3Gain-
NRROS-
-
-
-
3Gain-
NRSN1-
-
-
-
5Amp-
NSL1-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NT5DC1-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NTF4p.D144N
Missense
SNP
0.437
2--
NTMT1-
-
-
-
1Loss-
NTNG2-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK3p.G114R
Missense
SNP
0.404
2--
NTSR1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
1Loss-
NUCKS1-
-
-
-
3Gain-
NUDT14-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUDT3-
-
-
-
5Amp-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUP133-
-
-
-
1Loss-
NUP153-
-
-
-
5Amp-
NUP205-
-
-
-
1Loss-
NUP210Lp.P533L
Missense
SNP
0.643
3Gain-
NUP214-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUS1-
-
-
-
1Loss-
NVL-
-
-
-
1Loss-
OARD1-
-
-
-
5Amp-
OAS2p.P322S
Missense
SNP
0.404
2--
OAZ3-
-
-
-
3Gain-
OBP2A-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OBSCNp.A1860V
Missense
SNP
0.990
1Loss-
OCLM-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OGDHL-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGFRL1-
-
-
-
1Loss-
OLAH-
-
-
-
3Gain-
OLFM1-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLIG3-
-
-
-
1Loss-
OOEPp.P144S
p.P71L
Missense
Missense
SNP
SNP
1.000
1.000
1Loss-
OPA1-
-
-
-
3Gain-
OPN1SW-
-
-
-
1Loss-
OPRL1-
-
-
-
3Gain-
OPRM1-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
3Gain-
OR10C1-
-
-
-
4Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11A1p.G153E
Missense
SNP
0.296
4Gain-
OR12D2-
-
-
-
4Gain-
OR12D3-
-
-
-
4Gain-
OR13A1-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR14J1-
-
-
-
4Gain-
OR1L4p.S8N
Missense
SNP
0.511
2--
OR1N2p.P75S
Missense
SNP
0.474
2--
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
4Gain-
OR2B6-
-
-
-
3Gain-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
OR2H1-
-
-
-
4Gain-
OR2H2-
-
-
-
4Gain-
OR2J1-
-
-
-
4Gain-
OR2J2-
-
-
-
4Gain-
OR2J3-
-
-
-
4Gain-
OR2M2p.G306E
Missense
SNP
0.451
2--
OR2S2-
-
-
-
1Loss-
OR2W1-
-
-
-
4Gain-
OR52L1p.E109K
Missense
SNP
0.464
2--
OR56B4p.H229Y
Missense
SNP
0.414
2--
OR5D13p.S197N
Missense
SNP
0.489
2--
OR5P2p.R85K
Missense
SNP
0.565
2--
OR5V1-
-
-
-
4Gain-
OR6B1-
-
-
-
1Loss-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2p.G233E
Missense
SNP
0.643
3Gain-
OR6P1-
-
-
-
3Gain-
OR6V1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR8B12p.K235I
Missense
SNP
0.539
2--
OR8D1p.G239E
Missense
SNP
0.425
2--
OR9A2-
-
-
-
1Loss-
OR9A4-
-
-
-
1Loss-
ORAI3-
-
-
-
3Gain-
ORC3-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
OSBP2p.S488N
Missense
SNP
0.590
2--
OSBPL2-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSTM1-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOGLp.P651S
Missense
SNP
0.536
2--
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OTX2p.D266N
p.Q46P
Missense
Missense
SNP
SNP
0.511
0.534
2--
P3H2-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PACRG-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN1-
-
-
-
5Amp-
PAEP-
-
-
-
1Loss-
PAK1IP1-
-
-
-
5Amp-
PAK2-
-
-
-
3Gain-
PALD1-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR8-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARD6B-
-
-
-
3Gain-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARM1p.S95L
Missense
SNP
0.546
2--
PARP1-
-
-
-
1Loss-
PARP12-
-
-
-
1Loss-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PAX4-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PAXIP1-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBRM1p.P812S
Missense
SNP
0.505
2--
PBX1-
-
-
-
3Gain-
PBX2-
-
-
-
5Amp-
PBXIP1-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA4p.G655S
Missense
SNP
0.415
2--
PCDHB1p.S699F
Missense
SNP
0.510
2--
PCDHB2p.P346F
Missense
DNP
0.358
2--
PCDHB6p.E520K
Missense
SNP
0.342
2--
PCDHGC5p.S705F
Missense
SNP
0.481
2--
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCLOp.G3372R
p.D649N
Missense
Missense
SNP
SNP
0.462
0.506
2--
PCMT1-
-
-
-
1Loss-
PCMTD2-
-
-
-
3Gain-
PCNX2p.E1448K
Missense
SNP
0.708
3Gain-
PCP4L1-
-
-
-
3Gain-
PCSK5p.G283R
Missense
SNP
0.508
2--
PCYT1A-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDIA4-
-
-
-
1Loss-
PDLIM4p.G123E
Missense
SNP
0.489
2--
PDRG1-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDSS2-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEG3p.K1026E
Missense
SNP
0.449
2--
PERP-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PEX6-
-
-
-
5Amp-
PEX7-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFDN6-
-
-
-
5Amp-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PGBD1-
-
-
-
4Gain-
PGBD5-
-
-
-
1Loss-
PGC-
-
-
-
5Amp-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM3-
-
-
-
1Loss-
PHACTR1-
-
-
-
3Gain-
PHACTR2-
-
-
-
1Loss-
PHACTR3-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHF1-
-
-
-
5Amp-
PHF10-
-
-
-
1Loss-
PHF20-
-
-
-
3Gain-
PHF24-
-
-
-
1Loss-
PHF3-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKG2-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PI16-
-
-
-
5Amp-
PI3-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PICK1-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGO-
-
-
-
1Loss-
PIGQp.M328I
Missense
SNP
0.524
2--
PIGR-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGZp.R155C
Missense
SNP
0.366
3Gain-
PIK3C2Ap.R1251*
Nonsense
SNP
0.477
2--
PIK3C2B-
-
-
-
3Gain-
PIK3CA-
-
-
-
3Gain-
PIK3CG-
-
-
-
1Loss-
PIM1-
-
-
-
5Amp-
PIP-
-
-
-
1Loss-
PIP4K2A-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PITRM1-
-
-
-
3Gain-
PKD1L1p.L1990F
Missense
SNP
0.475
2--
PKHD1-
-
-
-
3Gain-
PKIB-
-
-
-
1Loss-
PKIG-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKNOX2p.S190F
Missense
SNP
0.517
2--
PKP1-
-
-
-
3Gain-
PLA2G4Ap.P686L
Missense
SNP
0.641
5Amp-
PLA2G6-
-
-
-
3Gain-
PLA2G7-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLCD4p.L630*
Nonsense
SNP
0.509
2--
PLCE1p.T43I
Missense
SNP
0.483
2--
PLCG1-
-
-
-
3Gain-
PLCL1p.R850*
Nonsense
SNP
0.450
2--
PLD1-
-
-
-
3Gain-
PLD4-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHH3p.S128F
Missense
SNP
0.485
2--
PLEKHO1-
-
-
-
3Gain-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPP7-
-
-
-
1Loss-
PLPPR1-
-
-
-
3Gain-
PLTP-
-
-
-
3Gain-
PLXDC2p.P418S
Missense
SNP
0.363
3Gain-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
1Loss-
PM20D1-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMPCB-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNISR-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNPLA1-
-
-
-
5Amp-
PNPLA3-
-
-
-
3Gain-
PNPLA8-
-
-
-
1Loss-
PNRC1-
-
-
-
1Loss-
POC5p.S350F
Missense
SNP
0.503
2--
PODXL-
-
-
-
1Loss-
POFUT1-
-
-
-
3Gain-
POGKp.I292N
Missense
SNP
0.367
3Gain-
POGZ-
-
-
-
3Gain-
POLH-
-
-
-
5Amp-
POLR1C-
-
-
-
5Amp-
POLR1E-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2H-
-
-
-
3Gain-
POLR2Ip.N56K
Missense
SNP
0.384
2--
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POM121L2-
-
-
-
3Gain-
POMGNT1p.W25*
Nonsense
SNP
1.000
2--
POMT1-
-
-
-
1Loss-
POP1p.S478F
Missense
SNP
0.415
2--
POPDC3-
-
-
-
1Loss-
POT1-
-
-
-
1Loss-
POTEC-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU3F2-
-
-
-
1Loss-
POU5F1-
-
-
-
4Gain-
PPA1-
-
-
-
1Loss-
PPARD-
-
-
-
5Amp-
PPDPF-
-
-
-
3Gain-
PPFIA2p.R797Q
Missense
SNP
0.489
2--
PPFIA4-
-
-
-
3Gain-
PPIL1-
-
-
-
5Amp-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R10-
-
-
-
4Gain-
PPP1R11-
-
-
-
4Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R18-
-
-
-
4Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R26-
-
-
-
1Loss-
PPP1R3Ap.S924L
Missense
SNP
1.000
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3Fp.G518E
Missense
SNP
0.510
NDND-
PPP1R3G-
-
-
-
5Amp-
PPP2R5A-
-
-
-
3Gain-
PPP2R5C-
-
-
-
1Loss-
PPP2R5D-
-
-
-
5Amp-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPT2-
-
-
-
5Amp-
PPT2-EGFL8-
-
-
-
5Amp-
PRAG1-
-
-
-
1Loss-
PRAMEF11p.Q475*
Nonsense
SNP
1.000
NDND-
PRCCp.A49V
Missense
SNP
0.385
3Gain-
PRDM1-
-
-
-
1Loss-
PRDM10p.P187S
Missense
SNP
0.548
2--
PRDM12-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELID3B-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREP-
-
-
-
1Loss-
PREX1-
-
-
-
3Gain-
PRF1-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRICKLE4-
-
-
-
5Amp-
PRIMA1-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKAG2-
-
-
-
1Loss-
PRKAR2B-
-
-
-
1Loss-
PRKCA-
-
-
-
3Gain-
PRKCBp.P540S
Missense
SNP
0.496
2--
PRKCIp.S46F
Missense
SNP
0.280
3Gain-
PRKCQ-
-
-
-
3Gain-
PRKDCp.S511L
Missense
SNP
0.542
2--
PRKG1-
-
-
-
1Loss-
PRKN-
-
-
-
1Loss-
PRL-
-
-
-
5Amp-
PRMT8p.D252N
Missense
SNP
0.461
2--
PROCR-
-
-
-
4Gain-
PROSER2-
-
-
-
3Gain-
PROX1-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF4B-
-
-
-
5Amp-
PRPF6-
-
-
-
3Gain-
PRPH2-
-
-
-
5Amp-
PRR14-
-
-
-
3Gain-
PRR18-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
3Gain-
PRR3-
-
-
-
4Gain-
PRR9-
-
-
-
3Gain-
PRRC2A-
-
-
-
4Gain-
PRRC2B-
-
-
-
1Loss-
PRRC2C-
-
-
-
3Gain-
PRRT1-
-
-
-
5Amp-
PRRT1B-
-
-
-
1Loss-
PRRT4-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRRX2-
-
-
-
1Loss-
PRSS1-
-
-
-
1Loss-
PRSS16-
-
-
-
3Gain-
PRSS2-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS36-
-
-
-
3Gain-
PRSS37-
-
-
-
1Loss-
PRSS38p.N119S
Missense
SNP
1.000
1Loss-
PRSS53-
-
-
-
3Gain-
PRSS58-
-
-
-
1Loss-
PRSS8-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PRUNE2p.S707N
Missense
SNP
0.476
2--
PRXp.T805I
Missense
SNP
0.497
2--
PSAP-
-
-
-
1Loss-
PSAPL1p.G13R
Missense
SNP
0.584
2--
PSEN2-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMB1-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB8-
-
-
-
5Amp-
PSMB9-
-
-
-
5Amp-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMG4-
-
-
-
5Amp-
PSORS1C1-
-
-
-
4Gain-
PSORS1C2-
-
-
-
4Gain-
PTBP3p.P489S
Missense
SNP
0.429
2--
PTCHD3-
-
-
-
3Gain-
PTCRA-
-
-
-
5Amp-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGES-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTK7-
-
-
-
5Amp-
PTN-
-
-
-
1Loss-
PTP4A1-
-
-
-
1Loss-
PTPN1-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRD-
-
-
-
1Loss-
PTPRGp.S55L
Missense
SNP
0.554
2--
PTPRK-
-
-
-
1Loss-
PTPRN2-
-
-
-
1Loss-
PTPRQp.G1322E
Missense
SNP
0.472
2--
PTPRTp.R1207C
Missense
SNP
0.661
3Gain-
PTPRZ1p.G99E
Missense
DNP
1.000
1Loss-
PUM3-
-
-
-
1Loss-
PUS7-
-
-
-
1Loss-
PXDC1-
-
-
-
5Amp-
PXMP4-
-
-
-
3Gain-
PXT1-
-
-
-
5Amp-
PYCR2-
-
-
-
1Loss-
PYDC2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QKI-
-
-
-
1Loss-
QRFP-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
R3HDML-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB18-
-
-
-
3Gain-
RAB19-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB32-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
1Loss-
RAB44-
-
-
-
5Amp-
RAB4A-
-
-
-
1Loss-
RABGAP1p.E998A
Missense
SNP
0.500
2--
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RALGAPB-
-
-
-
3Gain-
RALGDS-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RAPGEF1-
-
-
-
1Loss-
RARRES2-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBL1-
-
-
-
3Gain-
RBM12-
-
-
-
4Gain-
RBM17-
-
-
-
3Gain-
RBM24-
-
-
-
5Amp-
RBM28-
-
-
-
1Loss-
RBM33-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBMXL3p.R6C
Missense
SNP
0.435
NDND-
RBP3-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCAN2-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
1Loss-
RDH11p.S285G
Missense
SNP
0.514
2--
RECK-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REG1Bp.S117F
Missense
SNP
0.607
2--
REG3Gp.K31E
p.P137S
Missense
Missense
SNP
SNP
0.655
0.574
2--
RELN-
-
-
-
1Loss-
REM1-
-
-
-
3Gain-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
1Loss-
REPS1-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
REXO4-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFPL4B-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6p.N542I
Missense
SNP
1.000
1Loss-
RGL1-
-
-
-
3Gain-
RGL2-
-
-
-
5Amp-
RGP1-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS18-
-
-
-
5Amp-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
5Amp-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7p.E383K
Missense
SNP
0.516
2--
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEB-
-
-
-
1Loss-
RHEX-
-
-
-
3Gain-
RHOBTB1-
-
-
-
1Loss-
RHOU-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIMS1-
-
-
-
1Loss-
RIMS4-
-
-
-
3Gain-
RIN3-
-
-
-
1Loss-
RING1-
-
-
-
5Amp-
RINT1-
-
-
-
1Loss-
RIOK1-
-
-
-
5Amp-
RIPK1-
-
-
-
5Amp-
RIPOR2-
-
-
-
5Amp-
RIPOR3-
-
-
-
3Gain-
RIPPLY2-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RLBP1p.Q311*
Nonsense
DNP
0.460
2--
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNASET2-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF123p.P943S
Missense
SNP
0.522
2--
RNF133-
-
-
-
1Loss-
RNF144B-
-
-
-
5Amp-
RNF146-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF17p.R1370K
Missense
SNP
0.549
2--
RNF182-
-
-
-
5Amp-
RNF187-
-
-
-
1Loss-
RNF2-
-
-
-
3Gain-
RNF217-
-
-
-
1Loss-
RNF32-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF39-
-
-
-
4Gain-
RNF40-
-
-
-
3Gain-
RNF44p.P187L
Missense
DNP
0.413
2--
RNF5-
-
-
-
5Amp-
RNF8-
-
-
-
5Amp-
RNGTT-
-
-
-
1Loss-
RNPEPp.F178I
Missense
SNP
0.712
3Gain-
ROMO1-
-
-
-
4Gain-
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
1Loss-
RP11-295K3.1p.P427S
Missense
SNP
0.461
NDND-
RP11-407N17.3p.E244K
Missense
SNP
0.442
NDND-
RPA1p.G260S
Missense
SNP
0.498
2--
RPF2-
-
-
-
1Loss-
RPL10A-
-
-
-
5Amp-
RPL22L1-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL7A-
-
-
-
1Loss-
RPL7L1-
-
-
-
5Amp-
RPN2-
-
-
-
3Gain-
RPP21-
-
-
-
4Gain-
RPP25L-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPP40-
-
-
-
5Amp-
RPRD1Ap.E174K
Missense
SNP
0.519
2--
RPRD1B-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPS10-
-
-
-
5Amp-
RPS10-NUDT3-
-
-
-
5Amp-
RPS12-
-
-
-
1Loss-
RPS18-
-
-
-
5Amp-
RPS21-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RREB1-
-
-
-
5Amp-
RRN3p.P564S
Missense
SNP
0.486
2--
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
1Loss-
RRP36-
-
-
-
5Amp-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPH9-
-
-
-
5Amp-
RSPO2p.K220E
p.R121K
Missense
Missense
SNP
SNP
0.538
0.380
2--
RSPO3-
-
-
-
1Loss-
RSU1-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTKN2-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUFY2-
-
-
-
1Loss-
RUNX2-
-
-
-
5Amp-
RUSC1p.R429W
Missense
DNP
0.235
3Gain-
RUSC2-
-
-
-
1Loss-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXFP4-
-
-
-
3Gain-
RXRA-
-
-
-
1Loss-
RXRB-
-
-
-
5Amp-
RXRG-
-
-
-
3Gain-
RYR1p.G2043E
Missense
SNP
0.543
2--
RYR2-
-
-
-
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
SAE1-
-
-
-
2-TAGLN2--SAE1
SALL1p.A928V
Missense
SNP
0.508
2--
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD7-
-
-
-
3Gain-
SAMD9p.S607F
Missense
SNP
0.462
2--
SAMHD1-
-
-
-
3Gain-
SAMM50-
-
-
-
3Gain-
SAPCD1-
-
-
-
4Gain-
SAR1A-
-
-
-
1Loss-
SARDH-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SAYSD1-
-
-
-
5Amp-
SCAF1p.P1305S
Missense
SNP
0.564
2--
SCAF8-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAND1-
-
-
-
3Gain-
SCGN-
-
-
-
5Amp-
SCML2p.D572N
Missense
SNP
0.618
NDND-
SCML4-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCRIBp.P1450S
Missense
SNP
0.518
2--
SCUBE3-
-
-
-
5Amp-
SCYL3-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDE2-
-
-
-
1Loss-
SDHAF4-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SEC63-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA6Bp.A172V
Missense
SNP
0.426
2--
SEMA6C-
-
-
-
3Gain-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
1Loss-
SEPHS1-
-
-
-
3Gain-
SERAC1-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERINC3-
-
-
-
3Gain-
SERPINA1-
-
-
-
1Loss-
SERPINA10p.M109I
Missense
SNP
1.000
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4p.E288K
Missense
SNP
1.000
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB1-
-
-
-
5Amp-
SERPINB4p.A70V
Missense
SNP
0.453
2--
SERPINB6-
-
-
-
5Amp-
SERPINB9-
-
-
-
5Amp-
SERPINC1-
-
-
-
3Gain-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SESN1-
-
-
-
1Loss-
SETD1A-
-
-
-
3Gain-
SETD1Bp.S822F
p.Q853*
Missense
Nonsense
SNP
SNP
0.500
0.414
NDND-
SETD3-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETX-
-
-
-
1Loss-
SF3B4p.P200S
Missense
SNP
0.617
2--
SF3B5-
-
-
-
1Loss-
SFMBT2-
-
-
-
3Gain-
SFT2D1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTA2-
-
-
-
4Gain-
SGK1-
-
-
-
1Loss-
SGK2-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP1p.G340N
Missense
DNP
0.428
2--
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH3BGRL2-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3RF2p.P347S
Missense
SNP
0.487
2--
SHB-
-
-
-
1Loss-
SHBGp.P229L
Missense
SNP
0.476
2--
SHC1-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHH-
-
-
-
1Loss-
SHISA4-
-
-
-
3Gain-
SHPRH-
-
-
-
1Loss-
SHROOM2p.R1554H
Missense
SNP
0.451
NDND-
SI-
-
-
-
3Gain-
SIGMAR1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT5-
-
-
-
3Gain-
SIT1-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SKIDA1-
-
-
-
3Gain-
SKIL-
-
-
-
3Gain-
SKIV2L-
-
-
-
4Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC12A5-
-
-
-
3Gain-
SLC13A1-
-
-
-
1Loss-
SLC13A3-
-
-
-
3Gain-
SLC13A4-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC16A8-
-
-
-
3Gain-
SLC16A9-
-
-
-
1Loss-
SLC17A1-
-
-
-
5Amp-
SLC17A2-
-
-
-
5Amp-
SLC17A3-
-
-
-
5Amp-
SLC17A4-
-
-
-
5Amp-
SLC17A5-
-
-
-
1Loss-
SLC17A9p.A172V
Missense
SNP
0.284
3Gain-
SLC18A3-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
5Amp-
SLC22A3-
-
-
-
1Loss-
SLC22A7-
-
-
-
5Amp-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC25A16-
-
-
-
1Loss-
SLC25A21p.G237R
Missense
SNP
0.451
2--
SLC25A27-
-
-
-
3Gain-
SLC25A29-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A47-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC26A3p.G487D
Missense
SNP
1.000
1Loss-
SLC26A4-
-
-
-
1Loss-
SLC26A5-
-
-
-
1Loss-
SLC26A8-
-
-
-
5Amp-
SLC26A9-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC29A1-
-
-
-
5Amp-
SLC29A3-
-
-
-
1Loss-
SLC2A10-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC2A4RG-
-
-
-
3Gain-
SLC2A6-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
1Loss-
SLC32A1-
-
-
-
3Gain-
SLC34A2p.N591I
Missense
DNP
0.424
2--
SLC35A1-
-
-
-
1Loss-
SLC35B2-
-
-
-
5Amp-
SLC35B3-
-
-
-
5Amp-
SLC35C2-
-
-
-
3Gain-
SLC35D3-
-
-
-
1Loss-
SLC35E1p.T389A
Missense
SNP
0.512
2--
SLC35F1-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC37A3-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A7-
-
-
-
5Amp-
SLC41A1-
-
-
-
3Gain-
SLC44A4-
-
-
-
4Gain-
SLC45A3-
-
-
-
3Gain-
SLC4A2-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
3Gain-
SLC5A7p.D309N
Missense
SNP
0.507
2--
SLC6A2p.E223K
Missense
SNP
0.555
2--
SLC7A14-
-
-
-
3Gain-
SLC9A8-
-
-
-
3Gain-
SLC9B1p.E53K
Missense
SNP
0.385
2--
SLC9C2-
-
-
-
3Gain-
SLCO1B3p.G653E
Missense
SNP
0.451
2--
SLCO4A1-
-
-
-
3Gain-
SLIT2p.T57I
Missense
SNP
0.479
2--
SLIT3p.G1387R
Missense
SNP
0.494
2--
SLITRK1-
-
-
-
3Gain-
SLITRK3-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6p.S240F
Missense
SNP
0.473
3Gain-
SLPI-
-
-
-
3Gain-
SMAP1-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCAD1p.P787L
Missense
SNP
0.360
2--
SMARCD3-
-
-
-
1Loss-
SMC3p.R944*
Nonsense
SNP
0.419
2--
SMCO1-
-
-
-
3Gain-
SMCR8p.S639F
Missense
SNP
0.521
2--
SMG1p.S1840T
Missense
SNP
0.546
2--
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMIM13-
-
-
-
5Amp-
SMIM27-
-
-
-
1Loss-
SMIM29-
-
-
-
5Amp-
SMIM30-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SNAI1-
-
-
-
3Gain-
SNAP47-
-
-
-
1Loss-
SNAP91-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SND1-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNRNP48-
-
-
-
5Amp-
SNRPC-
-
-
-
5Amp-
SNRPE-
-
-
-
3Gain-
SNTA1-
-
-
-
3Gain-
SNX14-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX3-
-
-
-
1Loss-
SNX9-
-
-
-
1Loss-
SOAT1-
-
-
-
3Gain-
SOBP-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SOGA3-
-
-
-
1Loss-
SOHLH1-
-
-
-
1Loss-
SOX10-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX18-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX4-
-
-
-
5Amp-
SP110p.R531W
Missense
SNP
0.533
2--
SPAAR-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPACA9-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG4-
-
-
-
4Gain-
SPAG6-
-
-
-
3Gain-
SPAG8-
-
-
-
1Loss-
SPAM1-
-
-
-
1Loss-
SPASTp.P293L
Missense
SNP
0.442
2--
SPATA16-
-
-
-
3Gain-
SPATA17-
-
-
-
1Loss-
SPATA2-
-
-
-
3Gain-
SPATA25-
-
-
-
3Gain-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATS1-
-
-
-
5Amp-
SPDEF-
-
-
-
5Amp-
SPENp.Q3373*
Nonsense
SNP
1.000
2--
SPHAR-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPO11-
-
-
-
3Gain-
SPOCK2-
-
-
-
1Loss-
SPRR4p.S3F
Missense
SNP
0.706
2--
SPRTN-
-
-
-
1Loss-
SPTA1p.L1813H
p.K79T
Missense
Missense
SNP
SNP
0.377
0.344
3Gain-
SPTBp.E259K
Missense
SNP
0.572
2--
SPTBN4p.A497F
Missense
DNP
0.434
2--
SPTLC2p.V468A
Missense
SNP
0.521
2--
SRC-
-
-
-
3Gain-
SRCAP-
-
-
-
3Gain-
SRF-
-
-
-
5Amp-
SRGAP2-
-
-
-
3Gain-
SRGAP3p.S812R
Missense
SNP
0.454
2--
SRGN-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP9-
-
-
-
1Loss-
SRPK1-
-
-
-
5Amp-
SRPK2-
-
-
-
1Loss-
SRPXp.R254*
Nonsense
SNP
0.509
NDND-
SRRD-
-
-
-
3Gain-
SRRM4p.L246F
Missense
SNP
0.464
2--
SRSF12-
-
-
-
1Loss-
SRSF3-
-
-
-
5Amp-
SRSF6-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSBP1-
-
-
-
1Loss-
SSMEM1-
-
-
-
1Loss-
SSPO-
-
-
-
1Loss-
SSR1-
-
-
-
5Amp-
SSR2-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSU72P8-
-
-
-
1Loss-
ST6GAL1-
-
-
-
3Gain-
ST7-
-
-
-
1Loss-
ST8SIA4p.G157E
Missense
SNP
0.497
2--
ST8SIA6-
-
-
-
3Gain-
STAM-
-
-
-
3Gain-
STARD4p.E2K
Missense
SNP
0.452
2--
STAU1-
-
-
-
3Gain-
STK16p.Q240*
Nonsense
SNP
0.622
2--
STK19p.P77L
Missense
SNP
0.239
4Gain-
STK38-
-
-
-
5Amp-
STK4-
-
-
-
3Gain-
STKLD1-
-
-
-
1Loss-
STMN3-
-
-
-
3Gain-
STMND1-
-
-
-
5Amp-
STMP1-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STUM-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX12p.S142F
Missense
SNP
1.000
2--
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX17-
-
-
-
3Gain-
STX1B-
-
-
-
3Gain-
STX4p.P48S
Missense
SNP
0.278
3Gain-
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
SUCOp.L832V
Missense
SNP
0.639
3Gain-
SUGP2-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SULT1C3p.H96Y
Missense
SNP
0.477
2--
SUMO4-
-
-
-
1Loss-
SUN5-
-
-
-
3Gain-
SUPT3H-
-
-
-
5Amp-
SUPT5Hp.P844S
Missense
SNP
0.541
2--
SUPV3L1-
-
-
-
1Loss-
SURF1-
-
-
-
1Loss-
SURF2-
-
-
-
1Loss-
SURF4-
-
-
-
1Loss-
SURF6-
-
-
-
1Loss-
SUSD1p.K276N
Missense
SNP
0.107
2--
SUSD4-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SVEP1p.R3173K
Missense
SNP
0.496
2--
SVIL-
-
-
-
3Gain-
SVOPL-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYCP2-
-
-
-
3Gain-
SYCP2L-
-
-
-
5Amp-
SYNCRIP-
-
-
-
1Loss-
SYNE1-
-
-
-
1Loss-
SYNE2p.M6897I
Missense
SNP
0.447
2--
SYNE3-
-
-
-
1Loss-
SYNGAP1-
-
-
-
5Amp-
SYNGR2p.G7S
Missense
SNP
0.429
2--
SYNJ2-
-
-
-
1Loss-
SYPL1-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT2-
-
-
-
3Gain-
SYTL3-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3p.P81L
Missense
SNP
0.481
2--
TADA1-
-
-
-
3Gain-
TAF11-
-
-
-
5Amp-
TAF1A-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF3-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF5L-
-
-
-
1Loss-
TAF8-
-
-
-
5Amp-
TAGAP-
-
-
-
1Loss-
TAGLN2-
-
-
-
3GainTAGLN2--SAE1
TAOK1p.C675F
Missense
SNP
0.588
2--
TAP1-
-
-
-
5Amp-
TAP2-
-
-
-
5Amp-
TAPBP-
-
-
-
5Amp-
TAPBPLp.G84S
Missense
SNP
0.509
2--
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS1R2p.E820K
Missense
SNP
0.994
2--
TAS2R16-
-
-
-
1Loss-
TAS2R3-
-
-
-
1Loss-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
1Loss-
TAS2R4-
-
-
-
1Loss-
TAS2R40-
-
-
-
1Loss-
TAS2R41-
-
-
-
1Loss-
TAS2R5-
-
-
-
1Loss-
TAS2R60-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TBATA-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D22B-
-
-
-
5Amp-
TBC1D32-
-
-
-
1Loss-
TBC1D5p.S615F
Missense
SNP
0.527
2--
TBC1D7-
-
-
-
3Gain-
TBC1D8Bp.H221Y
Missense
SNP
0.577
NDND-
TBCC-
-
-
-
5Amp-
TBCCD1-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBXAS1-
-
-
-
1Loss-
TBXT-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
1Loss-
TCAF2-
-
-
-
1Loss-
TCEA2-
-
-
-
3Gain-
TCF19-
-
-
-
4Gain-
TCF21-
-
-
-
1Loss-
TCF3p.P640S
Missense
SNP
0.427
2--
TCFL5-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
5Amp-
TCTE1-
-
-
-
5Amp-
TCTE3-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TDP1-
-
-
-
1Loss-
TDP2-
-
-
-
5Amp-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD6-
-
-
-
3Gain-
TDRD7-
-
-
-
1LossTDRD7--TMOD1
TDRD9-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TEAD3-
-
-
-
5Amp-
TECPR2-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEK-
-
-
-
1Loss-
TEKT3p.E118K
Missense
SNP
0.524
2--
TENM4p.G2479E
Missense
SNP
0.410
2--
TENT5A-
-
-
-
1Loss-
TES-
-
-
-
1Loss-
TESK1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX22-
-
-
-
1Loss-
TEX264p.S271F
Missense
SNP
0.469
2--
TEX35-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TFAP2A-
-
-
-
5Amp-
TFAP2B-
-
-
-
3Gain-
TFAP2C-
-
-
-
3Gain-
TFAP2D-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFEBp.E170*
Nonsense
SNP
0.264
5Amp-
TFEC-
-
-
-
1Loss-
TFIP11-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
TGp.R162N
p.Q1246*
Missense
Nonsense
DNP
SNP
0.407
0.524
2--
TGFB2-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2p.T228I
Missense
DNP
0.479
2--
TGM2-
-
-
-
3Gain-
TGM4p.D429Y
Missense
SNP
0.436
2--
THAP5-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMISp.P505S
Missense
SNP
1.000
1Loss-
THNSL1-
-
-
-
3Gain-
THPO-
-
-
-
3Gain-
THSD1p.P726S
Missense
SNP
0.448
2--
THSD7Bp.E824K
Missense
SNP
0.484
2--
TIAM2-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TJAP1-
-
-
-
5Amp-
TJP1p.R615*
Nonsense
SNP
0.480
2--
TLDC2-
-
-
-
3Gain-
TLN1-
-
-
-
1Loss-
TLN2p.P366F
Missense
DNP
0.471
2--
TLR5-
-
-
-
1Loss-
TLR7p.R1006K
Missense
SNP
0.513
NDND-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM9SF4-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMEFF1-
-
-
-
3Gain-
TMEM121-
-
-
-
1Loss-
TMEM139-
-
-
-
1Loss-
TMEM14A-
-
-
-
3Gain-
TMEM14B-
-
-
-
5Amp-
TMEM14C-
-
-
-
5Amp-
TMEM151B-
-
-
-
5Amp-
TMEM168-
-
-
-
1Loss-
TMEM170B-
-
-
-
5Amp-
TMEM176A-
-
-
-
1Loss-
TMEM176B-
-
-
-
1Loss-
TMEM178B-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM200A-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
3Gain-
TMEM209-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM213-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM217-
-
-
-
5Amp-
TMEM229A-
-
-
-
1Loss-
TMEM236-
-
-
-
3Gain-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
1Loss-
TMEM245-
-
-
-
3Gain-
TMEM250-
-
-
-
1Loss-
TMEM251-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM63A-
-
-
-
1Loss-
TMEM63B-
-
-
-
5Amp-
TMEM72-
-
-
-
1Loss-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM8B-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMOD1-
-
-
-
1LossTDRD7--TMOD1
TMOD4-
-
-
-
3Gain-
TMPRSS13p.L551F
Missense
SNP
0.458
2--
TMPRSS9p.P321S
Missense
SNP
0.512
2--
TMUB1-
-
-
-
1Loss-
TNF-
-
-
-
4Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIK-
-
-
-
3Gain-
TNK2-
-
-
-
3Gain-
TNKS1BP1p.R879*
Nonsense
SNP
0.515
2--
TNN-
-
-
-
3Gain-
TNNC2-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNPO3-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC18p.V375L
Missense
SNP
0.456
2--
TNXB-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM34-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
1Loss-
TOMM6-
-
-
-
5Amp-
TOP1-
-
-
-
3Gain-
TOP2Ap.P1457S
Missense
SNP
0.500
2--
TOPORS-
-
-
-
1Loss-
TOR1A-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR1B-
-
-
-
1Loss-
TOR3A-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TP53p.R158G
Missense
SNP
0.509
2--
TP53BP2-
-
-
-
1Loss-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP63p.P504S
Missense
SNP
0.652
3Gain-
TPBG-
-
-
-
1Loss-
TPD52L1-
-
-
-
1Loss-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPK1-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPMT-
-
-
-
5Amp-
TPR-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TPX2-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRAF3-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAM2-
-
-
-
3Gain-
TRANK1p.M1743I
Missense
SNP
0.437
2--
TRAPPC2B-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRDMT1-
-
-
-
3Gain-
TRDN-
-
-
-
1Loss-
TREM1-
-
-
-
5Amp-
TREM2-
-
-
-
5Amp-
TREML1-
-
-
-
5Amp-
TREML2-
-
-
-
5Amp-
TREML4-
-
-
-
5Amp-
TRERF1-
-
-
-
5Amp-
TRIM10-
-
-
-
4Gain-
TRIM11-
-
-
-
1Loss-
TRIM14-
-
-
-
3Gain-
TRIM15-
-
-
-
4Gain-
TRIM17-
-
-
-
1Loss-
TRIM2p.G274E
Missense
SNP
0.511
2--
TRIM24-
-
-
-
1Loss-
TRIM26-
-
-
-
4Gain-
TRIM27-
-
-
-
4Gain-
TRIM31-
-
-
-
4Gain-
TRIM38-
-
-
-
5Amp-
TRIM39-
-
-
-
4Gain-
TRIM39-RPP21-
-
-
-
4Gain-
TRIM40-
-
-
-
4Gain-
TRIM46-
-
-
-
3Gain-
TRIM60p.R471K
Missense
SNP
0.492
2--
TRIM67-
-
-
-
1Loss-
TRIOBPp.Y2105*
Nonsense
SNP
0.670
2--
TRIP11-
-
-
-
1Loss-
TRIP4p.S97F
Missense
SNP
0.449
2--
TRMT10B-
-
-
-
1Loss-
TRMT11-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT61A-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPC4AP-
-
-
-
4Gain-
TRPV5-
-
-
-
1Loss-
TRPV6-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSC1-
-
-
-
1Loss-
TSC22D4p.M326I
Missense
SNP
0.503
2--
TSEN15-
-
-
-
3Gain-
TSGA13-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSNAX-
-
-
-
1Loss-
TSNAX-DISC1-
-
-
-
1Loss-
TSPAN10p.S106F
Missense
SNP
0.425
2--
TSPAN12-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPO2-
-
-
-
5Amp-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TSTD3-
-
-
-
1Loss-
TTBK1-
-
-
-
5Amp-
TTC13-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC22p.W198*
Nonsense
DNP
1.000
2--
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
1Loss-
TTC28p.R878W
Missense
DNP
0.472
2--
TTC39B-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTF1-
-
-
-
1Loss-
TTI1-
-
-
-
3Gain-
TTK-
-
-
-
1Loss-
TTLL1p.P131S
Missense
SNP
0.486
2--
TTLL2-
-
-
-
1Loss-
TTLL9-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TUBAL3-
-
-
-
3Gain-
TUBB-
-
-
-
4Gain-
TUBB1-
-
-
-
3Gain-
TUBB2A-
-
-
-
5Amp-
TUBB2B-
-
-
-
5Amp-
TUBB4Ap.A248V
Missense
SNP
0.541
2--
TUBB8-
-
-
-
3Gain-
TUBE1-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
5Amp-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXNDC5-
-
-
-
5Amp-
TYRP1-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
UAP1-
-
-
-
3Gain-
UBAC1-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBD-
-
-
-
4Gain-
UBE2C-
-
-
-
3Gain-
UBE2H-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2NLp.D120N
Missense
SNP
0.559
NDND-
UBE2Q1-
-
-
-
3Gain-
UBE2R2-
-
-
-
1Loss-
UBE2T-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE3C-
-
-
-
1Loss-
UBE3D-
-
-
-
1Loss-
UBL7p.R241K
Missense
SNP
0.537
2--
UBN2-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBR2-
-
-
-
5Amp-
UBR7-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK1-
-
-
-
1Loss-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UEVLDp.V394I
Missense
SNP
0.431
2--
UFC1-
-
-
-
3Gain-
UFL1-
-
-
-
1Loss-
UGT2B11p.S192F
Missense
SNP
0.539
2--
UHMK1-
-
-
-
3Gain-
UHRF1BP1-
-
-
-
5Amp-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
UNC13Ap.E1247K
Missense
SNP
0.512
2--
UNC13B-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5CL-
-
-
-
5Amp-
UNC79-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UPF1-
-
-
-
3Gain-
UPF2-
-
-
-
3Gain-
UPK3BL1-
-
-
-
1Loss-
UQCC1-
-
-
-
4Gain-
UQCC2-
-
-
-
5Amp-
URB1p.A1806V
Missense
SNP
0.429
2--
URB2-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH2A-
-
-
-
3Gain-
USP13-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP20-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP34p.D17N
Missense
SNP
0.571
2--
USP45-
-
-
-
1Loss-
USP49-
-
-
-
5Amp-
USP6NL-
-
-
-
3Gain-
UST-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTRNp.I2068F
Missense
SNP
1.000
1Loss-
UTS2B-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
3Gain-
VARS-
-
-
-
4Gain-
VARS2-
-
-
-
4Gain-
VASH2-
-
-
-
3Gain-
VAV2-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VEGFA-
-
-
-
5Amp-
VGLL2-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIM-
-
-
-
3Gain-
VIP-
-
-
-
1Loss-
VIPR2-
-
-
-
1Loss-
VKORC1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMA21p.S42F
Missense
SNP
0.516
NDND-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VPS26A-
-
-
-
1Loss-
VPS37Cp.V106M
Missense
SNP
0.474
2--
VPS45-
-
-
-
3Gain-
VPS52-
-
-
-
5Amp-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VRK1-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM2L-
-
-
-
3Gain-
VSTM4-
-
-
-
1Loss-
VSX2p.G80E
Missense
SNP
0.512
2--
VTA1-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA7-
-
-
-
4Gain-
WAC-
-
-
-
3Gain-
WARS-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDHD1p.R951*
Nonsense
SNP
0.510
2--
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
1Loss-
WDR27-
-
-
-
1Loss-
WDR37-
-
-
-
3Gain-
WDR46-
-
-
-
5Amp-
WDR49-
-
-
-
3Gain-
WDR5-
-
-
-
1Loss-
WDR53-
-
-
-
3Gain-
WDR60-
-
-
-
1Loss-
WDR61-
-
-
-
3Gain-
WDR86-
-
-
-
1Loss-
WDR87p.E1594K
Missense
SNP
0.503
1Loss-
WEE2-
-
-
-
1Loss-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WISP3-
-
-
-
1Loss-
WNK3p.G1081A
Missense
SNP
0.500
NDND-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT3A-
-
-
-
1Loss-
WNT6p.D321N
Missense
SNP
0.477
2--
WNT9A-
-
-
-
1Loss-
WRNIP1-
-
-
-
5Amp-
WTAP-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1p.S331F
Missense
SNP
0.484
2--
XKR3p.P34L
Missense
SNP
0.450
2--
XKR7-
-
-
-
3Gain-
XPO5-
-
-
-
5Amp-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XXYLT1-
-
-
-
3Gain-
YEATS2-
-
-
-
3Gain-
YIPF3-
-
-
-
5Amp-
YLPM1p.P959S
Missense
SNP
0.558
2--
YME1L1-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YTHDF1-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YY1-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z84488.2-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZBBXp.D521N
Missense
SNP
0.321
3Gain-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
1Loss-
ZBED9-
-
-
-
4Gain-
ZBP1-
-
-
-
3Gain-
ZBTB12-
-
-
-
4Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB22-
-
-
-
5Amp-
ZBTB24-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB5-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB9-
-
-
-
5Amp-
ZC2HC1B-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H12D-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
1Loss-
ZC3HAV1L-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCCHC6p.Q471*
Nonsense
DNP
0.412
NDND-
ZCCHC7-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZEB1-
-
-
-
3Gain-
ZFAND3-
-
-
-
5Amp-
ZFAND4-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP57-
-
-
-
4Gain-
ZFP64p.S607L
Missense
SNP
0.307
3Gain-
ZFYVE21-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZHX2p.F676L
Missense
SNP
0.519
2--
ZHX3-
-
-
-
3Gain-
ZIK1-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
4Gain-
ZKSCAN4-
-
-
-
4Gain-
ZKSCAN7-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
3Gain-
ZMAT3-
-
-
-
3Gain-
ZMIZ1p.S829L
Missense
SNP
0.533
2--
ZMYND11-
-
-
-
3Gain-
ZMYND8-
-
-
-
3Gain-
ZNF10-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF107-
-
-
-
1Loss-
ZNF112-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF138-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF140-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF165-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF184-
-
-
-
3Gain-
ZNF197p.Q633K
Missense
SNP
0.472
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
1Loss-
ZNF215p.E89K
Missense
SNP
0.459
2--
ZNF217-
-
-
-
3Gain-
ZNF22-
-
-
-
1Loss-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF26-
-
-
-
1Loss-
ZNF267-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF273-
-
-
-
1Loss-
ZNF277-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF292-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF311-
-
-
-
4Gain-
ZNF318p.S1008F
Missense
SNP
0.246
5Amp-
ZNF32-
-
-
-
1Loss-
ZNF320-
-
-
-
1Loss-
ZNF322-
-
-
-
3Gain-
ZNF331-
-
-
-
1Loss-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF33B-
-
-
-
1Loss-
ZNF341-
-
-
-
3Gain-
ZNF345-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF391-
-
-
-
3Gain-
ZNF398-
-
-
-
1Loss-
ZNF404-
-
-
-
1Loss-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF425-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF438-
-
-
-
3Gain-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF467-
-
-
-
1Loss-
ZNF468-
-
-
-
1Loss-
ZNF469p.E2764K
Missense
SNP
0.510
2--
ZNF479-
-
-
-
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF485-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF510p.P487L
Missense
SNP
0.526
2--
ZNF512B-
-
-
-
3Gain-
ZNF519-
-
-
-
1Loss-
ZNF525-
-
-
-
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF561p.L33R
Missense
SNP
0.459
2--
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF573-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF605-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF629-
-
-
-
3Gain-
ZNF639-
-
-
-
3Gain-
ZNF646-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF668-
-
-
-
3Gain-
ZNF671p.H164Y
Missense
SNP
0.553
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
1Loss-
ZNF679-
-
-
-
1Loss-
ZNF680-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF687p.S1182*
Nonsense
SNP
0.641
3Gain-
ZNF689-
-
-
-
3Gain-
ZNF69-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF701-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF716-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF720-
-
-
-
1Loss-
ZNF721p.H747Y
Missense
SNP
0.502
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF735-
-
-
-
1Loss-
ZNF736-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF746-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF750p.G172R
Missense
SNP
0.550
2--
ZNF76-
-
-
-
5Amp-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF775p.G246R
Missense
SNP
0.985
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF783-
-
-
-
1Loss-
ZNF786-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF800-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF831-
-
-
-
3Gain-
ZNF839-
-
-
-
1Loss-
ZNF84-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF862-
-
-
-
1Loss-
ZNF865p.S1020F
Missense
SNP
0.476
2--
ZNF878-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF891-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF92-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99p.H363Y
Missense
SNP
0.516
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNRD1-
-
-
-
4Gain-
ZP4-
-
-
-
3Gain-
ZSCAN12-
-
-
-
4Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN23p.G283E
Missense
SNP
0.268
4Gain-
ZSCAN26-
-
-
-
4Gain-
ZSCAN31-
-
-
-
4Gain-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5Bp.D224N
Missense
SNP
0.437
2--
ZSCAN9-
-
-
-
4Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZUP1-
-
-
-
1Loss-
ZYX-
-
-
-
1Loss-