PDMR-997726~040-R~X19XY3-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A3GALT2-
-
-
-
1Loss-
A4GALT-
-
-
-
3Gain-
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AADAT-
-
-
-
1Loss-
AAGAB-
-
-
-
1Loss-
AAMDC-
-
-
-
3Gain-
AAR2-
-
-
-
1Loss-
AARD-
-
-
-
5Amp-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
3Gain-
AASS-
-
-
-
1Loss-
ABCA1-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCA4-
-
-
-
1Loss-
ABCB1-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCB4-
-
-
-
1Loss-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
5Amp-
ABCC8-
-
-
-
3Gain-
ABCD3-
-
-
-
1Loss-
ABCD4-
-
-
-
3Gain-
ABCE1-
-
-
-
1Loss-
ABCF2-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
3Gain-
ABHD10-
-
-
-
1Loss-
ABHD11-
-
-
-
3Gain-
ABHD12-
-
-
-
3Gain-
ABHD12B-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16B-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI3BP-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
5Amp-
ABRAXAS1-
-
-
-
1Loss-
ABTB1-
-
-
-
5Amp-
ABTB2-
-
-
-
3Gain-
AC000120.2-
-
-
-
1Loss-
AC000120.3-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004832.3-
-
-
-
3Gain-
AC004922.1-
-
-
-
1Loss-
AC004997.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
1Loss-
AC005154.5-
-
-
-
3Gain-
AC005324.3-
-
-
-
1LossAC005324.3--SLC38A2
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007375.1-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008687.4-
-
-
-
3Gain-
AC008687.8-
-
-
-
3Gain-
AC008695.1-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC009879.2-
-
-
-
5Amp-
AC009879.3-
-
-
-
5Amp-
AC010132.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010487.3-
-
-
-
3Gain-
AC010615.4-
-
-
-
1Loss-
AC010619.1-
-
-
-
3Gain-
AC011005.1-
-
-
-
1Loss-
AC011452.1-
-
-
-
3Gain-
AC012213.5-
-
-
-
5Amp-
AC012254.2-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC020907.6-
-
-
-
1Loss-
AC020909.1-
-
-
-
3Gain-
AC021097.2-
-
-
-
1Loss-
AC021097.3-
-
-
-
1Loss-
AC021660.3-
-
-
-
4Gain-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
5Amp-
AC026316.5-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
5Amp-
AC037459.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC068831.7-
-
-
-
1Loss-
AC069257.3-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC069444.2-
-
-
-
1Loss-
AC073111.3-
-
-
-
1Loss-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
3Gain-
AC087632.1-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
3Gain-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098484.3-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
4Gain-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
3Gain-
AC112128.1-
-
-
-
1Loss-
AC112504.2-
-
-
-
5Amp-
AC113348.2-
-
-
-
1Loss-
AC114490.2-
-
-
-
1Loss-
AC114490.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117457.1-
-
-
-
5Amp-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC119674.2-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
6Amp-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
4Gain-
AC138696.1-
-
-
-
4Gain-
AC139491.7-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAD11-
-
-
-
5Amp-
ACAD8-
-
-
-
3Gain-
ACAD9-
-
-
-
5Amp-
ACADM-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAP1p.M76I
Missense
SNP
0.600
1Loss-
ACAP2-
-
-
-
1Loss-
ACAP3-
-
-
-
1Loss-
ACAT1-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACCS-
-
-
-
3Gain-
ACCSL-
-
-
-
3Gain-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
3Gain-
ACHE-
-
-
-
1Loss-
ACIN1-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACKR4-
-
-
-
5Amp-
ACO1-
-
-
-
6Amp-
ACO2-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT1-
-
-
-
3Gain-
ACOT11-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT2-
-
-
-
3Gain-
ACOT4-
-
-
-
3Gain-
ACOT6-
-
-
-
3Gain-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP2-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
5Amp-
ACR-
-
-
-
3Gain-
ACRV1-
-
-
-
3Gain-
ACSBG1-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM1p.Q352H
Missense
SNP
0.294
2--
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL6A-
-
-
-
5Amp-
ACTL6B-
-
-
-
1Loss-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTN1-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
3Gain-
ACTR10-
-
-
-
3Gain-
ACTR3B-
-
-
-
1Loss-
ACTR3C-
-
-
-
1Loss-
ACTR5-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACTRT3-
-
-
-
3Gain-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACY3-
-
-
-
3Gain-
ACYP1-
-
-
-
3Gain-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADA-
-
-
-
1Loss-
ADA2-
-
-
-
3Gain-
ADAD1-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
3Gain-
ADAM20-
-
-
-
3Gain-
ADAM21-
-
-
-
3Gain-
ADAM22-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAM30-
-
-
-
1Loss-
ADAM32-
-
-
-
3Gain-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS12-
-
-
-
4Gain-
ADAMTS15-
-
-
-
3Gain-
ADAMTS16p.R252C
Missense
SNP
0.076
4Gain-
ADAMTS17-
-
-
-
1Loss-
ADAMTS19p.D217E
Missense
SNP
1.000
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS5-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
3Gain-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB1-
-
-
-
1Loss-
ADCK1-
-
-
-
3Gain-
ADCK2-
-
-
-
1Loss-
ADCK5-
-
-
-
4Gain-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
4Gain-
ADCY4p.L477M
Missense
SNP
0.569
3Gain-
ADCY5-
-
-
-
1Loss-
ADCY8-
-
-
-
4Gain-
ADCYAP1-
-
-
-
4Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADGRA2-
-
-
-
3Gain-
ADGRA3-
-
-
-
1Loss-
ADGRB1-
-
-
-
4Gain-
ADGRB2-
-
-
-
1Loss-
ADGRG7-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADHFE1-
-
-
-
5Amp-
ADIG-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADM-
-
-
-
3Gain-
ADM2-
-
-
-
3Gain-
ADM5-
-
-
-
3Gain-
ADNP-
-
-
-
1Loss-
ADNP2-
-
-
-
3Gain-
ADO-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADPRH-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRA2Bp.E258D
Missense
SNP
0.686
2--
ADRA2C-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
3Gain-
ADRM1-
-
-
-
1Loss-
ADSL-
-
-
-
3Gain-
ADSSL1-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AEN-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF2p.P600H
Missense
SNP
0.351
NDND-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
5Amp-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP3-
-
-
-
1Loss-
AGAP4-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL1-
-
-
-
1Loss-
AGBL2-
-
-
-
3Gain-
AGBL3-
-
-
-
1Loss-
AGBL4-
-
-
-
1Loss-
AGFG2-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
1Loss-
AGL-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGO1-
-
-
-
1Loss-
AGO2-
-
-
-
4Gain-
AGO3-
-
-
-
1Loss-
AGO4-
-
-
-
1Loss-
AGPAT3-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGTRAP-
-
-
-
1Loss-
AGXT2-
-
-
-
4Gain-
AHCTF1p.G305R
Missense
SNP
0.364
2--
AHCY-
-
-
-
1Loss-
AHCYL1-
-
-
-
1Loss-
AHCYL2-
-
-
-
1Loss-
AHDC1-
-
-
-
1Loss-
AHNAK-
-
-
-
3Gain-
AHNAK2-
-
-
-
3Gain-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
4Gain-
AHSA1-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIFM3-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AJAP1-
-
-
-
1Loss-
AJUBA-
-
-
-
3Gain-
AK2-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
3Gain-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP13-
-
-
-
1Loss-
AKAP5-
-
-
-
3Gain-
AKAP6-
-
-
-
3Gain-
AKAP9-
-
-
-
1Loss-
AKIP1-
-
-
-
3Gain-
AKIRIN1-
-
-
-
1Loss-
AKNAD1-
-
-
-
1Loss-
AKR1A1-
-
-
-
1Loss-
AKR1B1-
-
-
-
1Loss-
AKR1B10-
-
-
-
1Loss-
AKR1B15-
-
-
-
1Loss-
AKR1D1-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1-
-
-
-
3Gain-
AKT1S1-
-
-
-
3Gain-
AL020996.2-
-
-
-
1Loss-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL031281.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL035078.4-
-
-
-
3Gain-
AL035460.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049629.2-
-
-
-
3Gain-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
3Gain-
AL049839.2-
-
-
-
3Gain-
AL080251.1-
-
-
-
1Loss-
AL096870.1-
-
-
-
3Gain-
AL109811.4-
-
-
-
1Loss-
AL109827.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
3Gain-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
1Loss-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
1Loss-
AL121845.3-
-
-
-
1Loss-
AL121900.2-
-
-
-
3Gain-
AL132780.3-
-
-
-
3Gain-
AL133410.3-
-
-
-
8Amp-
AL136295.1-
-
-
-
3Gain-
AL136295.3-
-
-
-
3Gain-
AL136295.4-
-
-
-
3Gain-
AL136295.5-
-
-
-
3Gain-
AL136531.2-
-
-
-
3Gain-
AL138752.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
3Gain-
AL139353.1-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL162231.1-
-
-
-
8Amp-
AL162231.3-
-
-
-
8Amp-
AL162377.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355102.2-
-
-
-
3Gain-
AL355916.2-
-
-
-
3Gain-
AL357673.1-
-
-
-
1Loss-
AL358075.4-
-
-
-
1Loss-
AL358113.1-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL445685.3-
-
-
-
1Loss-
AL449266.1-
-
-
-
1Loss-
AL451062.3-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
1Loss-
AL672043.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALAS2p.A261T
Missense
SNP
1.000
NDND-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
1Loss-
ALDH16A1-
-
-
-
3Gain-
ALDH1A1p.S185I
Missense
SNP
0.203
3Gain-
ALDH1A3-
-
-
-
1Loss-
ALDH1L1-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH3B1-
-
-
-
3Gain-
ALDH3B2-
-
-
-
3Gain-
ALDH4A1-
-
-
-
1Loss-
ALDH6A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALDOB-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
3Gain-
ALG14-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
5Amp-
ALG2-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALG6-
-
-
-
1Loss-
ALG8-
-
-
-
3Gain-
ALG9-
-
-
-
3Gain-
ALKAL1-
-
-
-
3Gain-
ALKBH1-
-
-
-
3Gain-
ALKBH3-
-
-
-
3Gain-
ALKBH4-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH8-
-
-
-
3Gain-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
ALX4-
-
-
-
3Gain-
AMACR-
-
-
-
4Gain-
AMBN-
-
-
-
1Loss-
AMBRA1-
-
-
-
3Gain-
AMER2-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN-
-
-
-
3Gain-
AMOTp.E286D
Missense
SNP
0.323
NDND-
AMOTL1-
-
-
-
3Gain-
AMOTL2-
-
-
-
5Amp-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPD3-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
5Amp-
ANAPC15-
-
-
-
3Gain-
ANAPC4-
-
-
-
1Loss-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
3Gain-
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
5Amp-
ANGPT4-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL3-
-
-
-
1Loss-
ANGPTL5-
-
-
-
3Gain-
ANGPTL7-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANK2-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKDD1A-
-
-
-
3Gain-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
4Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
1Loss-
ANKK1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD12p.S1533T
Missense
SNP
1.000
2--
ANKRD13C-
-
-
-
1Loss-
ANKRD13D-
-
-
-
3Gain-
ANKRD17-
-
-
-
1Loss-
ANKRD18B-
-
-
-
6Amp-
ANKRD27-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
5Amp-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
4Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD37-
-
-
-
1Loss-
ANKRD42-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
5Amp-
ANKRD49-
-
-
-
3Gain-
ANKRD50-
-
-
-
1Loss-
ANKRD54-
-
-
-
3Gain-
ANKRD55-
-
-
-
1Loss-
ANKRD60-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
5Amp-
ANKRD65-
-
-
-
1Loss-
ANKRD7-
-
-
-
1Loss-
ANKRD9-
-
-
-
3Gain-
ANKS6-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO1-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
3Gain-
ANO5-
-
-
-
3Gain-
ANP32A-
-
-
-
1Loss-
ANP32B-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA1-
-
-
-
3Gain-
ANXA10-
-
-
-
1Loss-
ANXA13-
-
-
-
5Amp-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
4Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
1Loss-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
3Gain-
AP000646.1-
-
-
-
3Gain-
AP000721.1-
-
-
-
3Gain-
AP000781.2-
-
-
-
3Gain-
AP000812.4-
-
-
-
3Gain-
AP000812.5-
-
-
-
3Gain-
AP000944.2-
-
-
-
3Gain-
AP001267.5-
-
-
-
3Gain-
AP001273.2-
-
-
-
3Gain-
AP001458.2-
-
-
-
3Gain-
AP001781.2-
-
-
-
3Gain-
AP001931.1-
-
-
-
3Gain-
AP002373.1-
-
-
-
3Gain-
AP002495.1-
-
-
-
3Gain-
AP002512.3-
-
-
-
3Gain-
AP002748.4-
-
-
-
3Gain-
AP002884.3-
-
-
-
3Gain-
AP002990.1-
-
-
-
3Gain-
AP003108.2-
-
-
-
3Gain-
AP003419.1-
-
-
-
3Gain-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
3Gain-
AP1G2-
-
-
-
3Gain-
AP1S1-
-
-
-
1Loss-
AP2A1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4M1-
-
-
-
1Loss-
AP4S1-
-
-
-
3Gain-
AP5B1-
-
-
-
3Gain-
AP5M1-
-
-
-
3Gain-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBA1p.D28Y
Missense
SNP
0.776
3Gain-
APBB1-
-
-
-
3Gain-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APCDD1L-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
API5-
-
-
-
3Gain-
APIP-
-
-
-
3Gain-
APLNR-
-
-
-
3Gain-
APLP2-
-
-
-
3Gain-
APMAP-
-
-
-
3Gain-
APOA1-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
3Gain-
APOA5-
-
-
-
3Gain-
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOC3-
-
-
-
3Gain-
APOD-
-
-
-
1Loss-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APOPT1-
-
-
-
3Gain-
APP-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
6Amp-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
3Gain-
AQP3-
-
-
-
6Amp-
AQP4-
-
-
-
3Gain-
AQP7-
-
-
-
6Amp-
ARAP1-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
4Gain-
ARCN1-
-
-
-
3Gain-
AREG-
-
-
-
1Loss-
AREL1-
-
-
-
3Gain-
ARF1-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARF5-
-
-
-
1Loss-
ARF6-
-
-
-
3Gain-
ARFGAP1-
-
-
-
1Loss-
ARFGAP2-
-
-
-
3Gain-
ARFGAP3-
-
-
-
3Gain-
ARFGEF1-
-
-
-
5Amp-
ARFGEF2-
-
-
-
1Loss-
ARFIP1-
-
-
-
1Loss-
ARFIP2-
-
-
-
3Gain-
ARFRP1-
-
-
-
1Loss-
ARG2-
-
-
-
3Gain-
ARGFX-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP1-
-
-
-
3Gain-
ARHGAP10-
-
-
-
1Loss-
ARHGAP20-
-
-
-
3Gain-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP31-
-
-
-
1Loss-
ARHGAP32-
-
-
-
3Gain-
ARHGAP33-
-
-
-
1Loss-
ARHGAP39-
-
-
-
4Gain-
ARHGAP40-
-
-
-
1Loss-
ARHGAP42-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGAP5-
-
-
-
3Gain-
ARHGAP8-
-
-
-
3Gain-
ARHGEF10-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF17-
-
-
-
3Gain-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF26-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF35-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF39-
-
-
-
8Amp-
ARHGEF40-
-
-
-
3Gain-
ARHGEF5-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID3C-
-
-
-
8Amp-
ARID4A-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL14EP-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL2-
-
-
-
3Gain-
ARL2-SNX15-
-
-
-
3Gain-
ARL4A-
-
-
-
3Gain-
ARL6-
-
-
-
4Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC1-
-
-
-
5Amp-
ARMC10-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMCX4p.A399T
Missense
SNP
0.235
NDND-
ARMH1-
-
-
-
1Loss-
ARMH4-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARNTL-
-
-
-
3Gain-
ARPC1A-
-
-
-
1Loss-
ARPC1B-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB1-
-
-
-
3Gain-
ARRB2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARSA-
-
-
-
3Gain-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ARTN-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
ASAH1-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP1-
-
-
-
4Gain-
ASAP3-
-
-
-
1Loss-
ASB10-
-
-
-
1Loss-
ASB12p.V72Afs*21
Frame_Shift_Del
DEL
0.808
NDND-
ASB14-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB2-
-
-
-
3Gain-
ASB4-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASB7-
-
-
-
1Loss-
ASCC2-
-
-
-
3Gain-
ASCL3-
-
-
-
3Gain-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASIP-
-
-
-
1Loss-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
1Loss-
ASPAp.T166N
Missense
SNP
1.000
1Loss-
ASPDH-
-
-
-
3Gain-
ASPG-
-
-
-
3Gain-
ASPH-
-
-
-
5Amp-
ASPHD2-
-
-
-
3Gain-
ASPMp.S248L
Missense
SNP
0.584
3Gain-
ASPN-
-
-
-
3Gain-
ASRGL1-
-
-
-
3Gain-
ASTE1-
-
-
-
5Amp-
ASTN1-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
1Loss-
ATAD2-
-
-
-
5Amp-
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATAT1-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
3Gain-
ATF5-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG13-
-
-
-
3Gain-
ATG14-
-
-
-
3Gain-
ATG16L2-
-
-
-
3Gain-
ATG2A-
-
-
-
3Gain-
ATG2B-
-
-
-
3Gain-
ATG3-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9B-
-
-
-
1Loss-
ATL1-
-
-
-
3Gain-
ATL3-
-
-
-
3Gain-
ATM-
-
-
-
3Gain-
ATOH1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
5Amp-
ATP12A-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP13A3-
-
-
-
1Loss-
ATP13A4-
-
-
-
1Loss-
ATP13A5-
-
-
-
1Loss-
ATP1A1p.M178I
Missense
SNP
1.000
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
5Amp-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2B4-
-
-
-
3Gain-
ATP2C1-
-
-
-
5Amp-
ATP4A-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1E-
-
-
-
1Loss-
ATP5IF1-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MF-
-
-
-
1Loss-
ATP5MF-PTCD1-
-
-
-
1Loss-
ATP5MG-
-
-
-
3Gain-
ATP5MGL-
-
-
-
3Gain-
ATP5MPL-
-
-
-
3Gain-
ATP5PB-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP5Sp.D199Y
Missense
SNP
0.353
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
1Loss-
ATP6V0B-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
5Amp-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
1Loss-
ATP6V1A-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
5Amp-
ATP6V1D-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A1p.G746R
Missense
SNP
1.000
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP9A-
-
-
-
1Loss-
ATP9B-
-
-
-
3Gain-
ATPAF1-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
5Amp-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN10-
-
-
-
3Gain-
ATXN3-
-
-
-
3Gain-
ATXN7-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
AUH-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AURKA-
-
-
-
1Loss-
AURKAIP1-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVP-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZGP1-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
5Amp-
AZIN2-
-
-
-
1Loss-
B3GALNT1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT5-
-
-
-
1Loss-
B3GALT6-
-
-
-
1Loss-
B3GAT1-
-
-
-
3Gain-
B3GAT3-
-
-
-
3Gain-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
6Amp-
B3GNT6-
-
-
-
3Gain-
B4GALT1-
-
-
-
6Amp-
B4GALT2-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GALT4-
-
-
-
1Loss-
B4GALT5-
-
-
-
1Loss-
B4GALT6-
-
-
-
6Amp-
B4GALT7-
-
-
-
1Loss-
B4GAT1-
-
-
-
3Gain-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
5Amp-
BAAT-
-
-
-
3Gain-
BACE1-
-
-
-
3Gain-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAD-
-
-
-
3Gain-
BAG1-
-
-
-
6Amp-
BAG5-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
3Gain-
BANF1-
-
-
-
3Gain-
BANF2-
-
-
-
3Gain-
BANK1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARHL2-
-
-
-
1Loss-
BARX1-
-
-
-
3Gain-
BARX2-
-
-
-
3Gain-
BASP1p.A125S
Missense
SNP
0.294
4Gain-
BATF-
-
-
-
3Gain-
BATF2-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BAX-
-
-
-
3Gain-
BAZ1A-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBOF1-
-
-
-
3Gain-
BBOX1-
-
-
-
3Gain-
BBS1-
-
-
-
3Gain-
BBS12-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCAS1-
-
-
-
1Loss-
BCAS2-
-
-
-
1Loss-
BCAS4-
-
-
-
1Loss-
BCAT2-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCL10-
-
-
-
1Loss-
BCL11B-
-
-
-
3Gain-
BCL2-
-
-
-
5Amp-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L12-
-
-
-
3Gain-
BCL2L13-
-
-
-
3Gain-
BCL2L15-
-
-
-
1Loss-
BCL2L2-
-
-
-
3Gain-
BCL2L2-PABPN1-
-
-
-
3Gain-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCL9Lp.G1258V
Missense
SNP
0.475
3Gain-
BCO2-
-
-
-
3Gain-
BCR-
-
-
-
3Gain-
BDH1-
-
-
-
1Loss-
BDH2-
-
-
-
1Loss-
BDKRB1-
-
-
-
3Gain-
BDKRB2-
-
-
-
3Gain-
BDNF-
-
-
-
3Gain-
BDP1-
-
-
-
1Loss-
BEGAIN-
-
-
-
3Gain-
BEND4-
-
-
-
1Loss-
BEND5-
-
-
-
1Loss-
BEST1-
-
-
-
3Gain-
BEST4-
-
-
-
1Loss-
BET1-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BFSP2-
-
-
-
5Amp-
BGLAP-
-
-
-
3Gain-
BHLHA15-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
5Amp-
BHLHE23-
-
-
-
1Loss-
BHLHE40-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BID-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BIN3-
-
-
-
1Loss-
BIRC2-
-
-
-
3Gain-
BIRC3-
-
-
-
3Gain-
BIRC7-
-
-
-
1Loss-
BIRC8-
-
-
-
3Gain-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLCAP-
-
-
-
1Loss-
BLID-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLM-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP2-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP4-
-
-
-
3Gain-
BMP7-
-
-
-
1Loss-
BMP8A-
-
-
-
1Loss-
BMP8B-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BMPR1B-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP2-
-
-
-
3Gain-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
4Gain-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
1Loss-
BPI-
-
-
-
1Loss-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRAF-
-
-
-
1Loss-
BRAT1-
-
-
-
3Gain-
BRCA1p.E1440*
Nonsense
SNP
0.329
2--
BRCA2-
-
-
-
1Loss-
BRD1-
-
-
-
3Gain-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
4Gain-
BRDT-
-
-
-
1Loss-
BRF1-
-
-
-
3Gain-
BRF2-
-
-
-
3Gain-
BRI3-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIP1p.A828V
Missense
SNP
0.426
2--
BRIX1-
-
-
-
4Gain-
BRK1-
-
-
-
1Loss-
BRMS1-
-
-
-
3Gain-
BRMS1L-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSCL2-
-
-
-
3Gain-
BSDC1-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BSX-
-
-
-
3Gain-
BTBD1-
-
-
-
1Loss-
BTBD10-
-
-
-
3Gain-
BTBD18-
-
-
-
3Gain-
BTBD19-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD6-
-
-
-
3Gain-
BTBD7-
-
-
-
3Gain-
BTBD8-
-
-
-
1Loss-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTG3-
-
-
-
1Loss-
BTG4-
-
-
-
3Gain-
BTKp.Y632N
Missense
SNP
0.724
NDND-
BTLA-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUD13-
-
-
-
3Gain-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C10orf53-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C11orf1-
-
-
-
3Gain-
C11orf16-
-
-
-
3Gain-
C11orf24-
-
-
-
3Gain-
C11orf45-
-
-
-
3Gain-
C11orf49-
-
-
-
3Gain-
C11orf52-
-
-
-
3Gain-
C11orf53-
-
-
-
3Gain-
C11orf54-
-
-
-
3Gain-
C11orf58-
-
-
-
3Gain-
C11orf65-
-
-
-
3Gain-
C11orf68-
-
-
-
3Gain-
C11orf71-
-
-
-
3Gain-
C11orf74-
-
-
-
3Gain-
C11orf80-
-
-
-
3Gain-
C11orf86-
-
-
-
3Gain-
C11orf87-
-
-
-
3Gain-
C11orf88-
-
-
-
3Gain-
C11orf91-
-
-
-
3Gain-
C11orf94-
-
-
-
3Gain-
C11orf95-
-
-
-
3Gain-
C11orf96-
-
-
-
3Gain-
C11orf97-
-
-
-
3Gain-
C11orf98-
-
-
-
3Gain-
C12orf40p.Q187E
Missense
SNP
0.714
2--
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
3Gain-
C14orf177-
-
-
-
3Gain-
C14orf178-
-
-
-
3Gain-
C14orf180-
-
-
-
3Gain-
C14orf28-
-
-
-
3Gain-
C14orf39-
-
-
-
3Gain-
C14orf93-
-
-
-
3Gain-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
3Gain-
C19orf12-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
3Gain-
C19orf81-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1GALT1C1p.G170V
Missense
SNP
0.316
NDND-
C1orf100p.S126*
Nonsense
SNP
0.315
2--
C1orf105-
-
-
-
3Gain-
C1orf109-
-
-
-
1Loss-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf122-
-
-
-
1Loss-
C1orf123-
-
-
-
1Loss-
C1orf127-
-
-
-
1Loss-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf185-
-
-
-
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf210-
-
-
-
1Loss-
C1orf216-
-
-
-
1Loss-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf50-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf87-
-
-
-
1Loss-
C1orf94-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QTNF12-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
4Gain-
C1QTNF3-AMACR-
-
-
-
4Gain-
C1QTNF4-
-
-
-
3Gain-
C1QTNF5-
-
-
-
3Gain-
C1QTNF6-
-
-
-
3Gain-
C1QTNF7-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
1Loss-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
1Loss-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
1Loss-
C20orf96-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD2-
-
-
-
1Loss-
C2CD2L-
-
-
-
3Gain-
C2CD3-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD4D-
-
-
-
3Gain-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
1Loss-
C3orf30-
-
-
-
1Loss-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf58-
-
-
-
6Amp-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
3Gain-
C3orf80p.N57K
Missense
SNP
0.646
3Gain-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
4Gain-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
4Gain-
C5orf38-
-
-
-
4Gain-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
4Gain-
C5orf51p.N184K
Missense
SNP
0.244
4Gain-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
4Gain-
C6orf136-
-
-
-
3Gain-
C7-
-
-
-
4Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
1Loss-
C7orf43-
-
-
-
1Loss-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
1Loss-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8orf33-
-
-
-
4Gain-
C8orf34-
-
-
-
5Amp-
C8orf37-
-
-
-
5Amp-
C8orf44-
-
-
-
5Amp-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
5Amp-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
5Amp-
C8orf82-
-
-
-
4Gain-
C8orf88-
-
-
-
5Amp-
C8orf89-
-
-
-
5Amp-
C9-
-
-
-
4Gain-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
8Amp-
C9orf135-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf24-
-
-
-
8Amp-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
5Amp-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
5Amp-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
5Amp-
CA3-
-
-
-
5Amp-
CA6-
-
-
-
1Loss-
CA8-
-
-
-
5Amp-
CA9-
-
-
-
8Amp-
CAAP1-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
1Loss-
CABP2-
-
-
-
3Gain-
CABP4-
-
-
-
3Gain-
CABP7-
-
-
-
3Gain-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
3Gain-
CACHD1-
-
-
-
1Loss-
CACNA1B-
-
-
-
4Gain-
CACNA1Cp.E1464Rfs*51
Frame_Shift_Del
DEL
0.074
2--
CACNA1D-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA1Hp.A992T
Missense
SNP
0.619
2--
CACNA1I-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNG2-
-
-
-
3Gain-
CACNG6-
-
-
-
3Gain-
CACNG7-
-
-
-
3Gain-
CACNG8-
-
-
-
3Gain-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
1Loss-
CALB1-
-
-
-
5Amp-
CALCA-
-
-
-
3Gain-
CALCB-
-
-
-
3Gain-
CALCR-
-
-
-
1Loss-
CALD1-
-
-
-
1Loss-
CALM1-
-
-
-
3Gain-
CALML4-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAMTA1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CANX-
-
-
-
1Loss-
CAP1-
-
-
-
1Loss-
CAPN1-
-
-
-
3Gain-
CAPN2-
-
-
-
3Gain-
CAPN5-
-
-
-
3Gain-
CAPN7-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN1-
-
-
-
3Gain-
CAPSL-
-
-
-
4Gain-
CAPZA1-
-
-
-
1Loss-
CAPZA2-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD16-
-
-
-
3Gain-
CARD17-
-
-
-
3Gain-
CARD18-
-
-
-
3Gain-
CARD19-
-
-
-
3Gain-
CARD6-
-
-
-
4Gain-
CARMIL3-
-
-
-
3Gain-
CARNMT1-
-
-
-
3Gain-
CARNS1-
-
-
-
3Gain-
CARS2-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASD1-
-
-
-
1Loss-
CASP1-
-
-
-
3Gain-
CASP12-
-
-
-
3Gain-
CASP2-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
3Gain-
CASP5-
-
-
-
3Gain-
CASP6-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
1Loss-
CASR-
-
-
-
1Loss-
CASS4-
-
-
-
1Loss-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
1Loss-
CASZ1-
-
-
-
1Loss-
CAT-
-
-
-
3Gain-
CATSPER1-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERB-
-
-
-
3Gain-
CATSPERZ-
-
-
-
3Gain-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN3-
-
-
-
3Gain-
CAVIN4-
-
-
-
3Gain-
CBFA2T2-
-
-
-
3Gain-
CBL-
-
-
-
3Gain-
CBLB-
-
-
-
1Loss-
CBLL1-
-
-
-
1Loss-
CBLN2-
-
-
-
3Gain-
CBLN3-
-
-
-
3Gain-
CBLN4-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CC2D1B-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC107-
-
-
-
8Amp-
CCDC110-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
4Gain-
CCDC13-
-
-
-
1Loss-
CCDC134-
-
-
-
3Gain-
CCDC136-
-
-
-
1Loss-
CCDC14-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC146-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC15-
-
-
-
3Gain-
CCDC152-
-
-
-
4Gain-
CCDC153-
-
-
-
3Gain-
CCDC155-
-
-
-
3Gain-
CCDC157-
-
-
-
3Gain-
CCDC158-
-
-
-
1Loss-
CCDC163-
-
-
-
1Loss-
CCDC166-
-
-
-
4Gain-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC17-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC175-
-
-
-
3Gain-
CCDC178-
-
-
-
6Amp-
CCDC179-
-
-
-
3Gain-
CCDC18-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC186p.V750A
Missense
SNP
0.311
2--
CCDC188-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC191-
-
-
-
1Loss-
CCDC197-
-
-
-
3Gain-
CCDC198-
-
-
-
3Gain-
CCDC24-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC27-
-
-
-
1Loss-
CCDC28B-
-
-
-
1Loss-
CCDC30-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC34-
-
-
-
3Gain-
CCDC36-
-
-
-
1Loss-
CCDC39-
-
-
-
5Amp-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
1Loss-
CCDC58-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC71L-
-
-
-
1Loss-
CCDC73-
-
-
-
3Gain-
CCDC80-
-
-
-
1Loss-
CCDC81-
-
-
-
3Gain-
CCDC82-
-
-
-
3Gain-
CCDC83-
-
-
-
3Gain-
CCDC84-
-
-
-
3Gain-
CCDC85B-
-
-
-
3Gain-
CCDC85C-
-
-
-
3Gain-
CCDC86-
-
-
-
3Gain-
CCDC87-
-
-
-
3Gain-
CCDC88Ap.V483M
Missense
SNP
0.330
2--
CCDC88B-
-
-
-
3Gain-
CCDC88C-
-
-
-
3Gain-
CCDC89-
-
-
-
3Gain-
CCDC90B-
-
-
-
3Gain-
CCDC96-
-
-
-
1Loss-
CCIN-
-
-
-
8Amp-
CCK-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
3Gain-
CCL19-
-
-
-
8Amp-
CCL21-
-
-
-
8Amp-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL27-
-
-
-
8Amp-
CCL28-
-
-
-
4Gain-
CCM2-
-
-
-
3Gain-
CCM2L-
-
-
-
3Gain-
CCNA1-
-
-
-
1Loss-
CCNA2-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
3Gain-
CCND1-
-
-
-
3Gain-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
5Amp-
CCNG1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
3Gain-
CCNL1-
-
-
-
3Gain-
CCNL2-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCS-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCSER1-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
4Gain-
CCT6A-
-
-
-
3Gain-
CCT8-
-
-
-
1Loss-
CCT8L2p.E201Q
Missense
SNP
0.589
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD164L2-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
1Loss-
CD200-
-
-
-
1Loss-
CD200R1-
-
-
-
1Loss-
CD200R1L-
-
-
-
1Loss-
CD22-
-
-
-
1Loss-
CD226-
-
-
-
4Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248-
-
-
-
3Gain-
CD274-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD36-
-
-
-
1Loss-
CD37-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
3Gain-
CD3E-
-
-
-
3Gain-
CD3G-
-
-
-
3Gain-
CD40-
-
-
-
1Loss-
CD44-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD47-
-
-
-
1Loss-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD55-
-
-
-
3Gain-
CD58-
-
-
-
1Loss-
CD59-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD6-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD72-
-
-
-
8Amp-
CD74-
-
-
-
1Loss-
CD80-
-
-
-
1Loss-
CD82-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CD86-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CD96-
-
-
-
1Loss-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC14A-
-
-
-
1Loss-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
3Gain-
CDC42BPG-
-
-
-
3Gain-
CDC42EP1-
-
-
-
3Gain-
CDC42EP2-
-
-
-
3Gain-
CDC42EP5-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
3Gain-
CDC7-
-
-
-
1Loss-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
3Gain-
CDCA5-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDCA8-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
1Loss-
CDH10-
-
-
-
4Gain-
CDH12-
-
-
-
4Gain-
CDH17-
-
-
-
5Amp-
CDH18-
-
-
-
4Gain-
CDH19-
-
-
-
5Amp-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH22-
-
-
-
1Loss-
CDH24-
-
-
-
3Gain-
CDH26-
-
-
-
1Loss-
CDH4-
-
-
-
1Loss-
CDH6-
-
-
-
4Gain-
CDH7-
-
-
-
5Amp-
CDH9-
-
-
-
4Gain-
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
1Loss-
CDK18p.P372S
Missense
SNP
0.500
3Gain-
CDK20-
-
-
-
3Gain-
CDK2AP2-
-
-
-
3Gain-
CDK5-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDK6-
-
-
-
1Loss-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKL1-
-
-
-
3Gain-
CDKL2p.I356T
Missense
SNP
1.000
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2C-
-
-
-
1Loss-
CDKN3-
-
-
-
3Gain-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
3Gain-
CDPF1-
-
-
-
3Gain-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDV3-
-
-
-
5Amp-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CEACAM18-
-
-
-
3Gain-
CEBPA-
-
-
-
1Loss-
CEBPB-
-
-
-
1Loss-
CEBPD-
-
-
-
3Gain-
CEBPE-
-
-
-
3Gain-
CEBPG-
-
-
-
1Loss-
CECR2-
-
-
-
3Gain-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF1-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1-
-
-
-
3Gain-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CENPB-
-
-
-
3Gain-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
3Gain-
CENPP-
-
-
-
3Gain-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
3Gain-
CEP128-
-
-
-
3Gain-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
3Gain-
CEP170B-
-
-
-
3Gain-
CEP19-
-
-
-
1Loss-
CEP192-
-
-
-
5Amp-
CEP250-
-
-
-
1Loss-
CEP295-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
1Loss-
CEP44-
-
-
-
1Loss-
CEP57-
-
-
-
3Gain-
CEP63-
-
-
-
5Amp-
CEP70-
-
-
-
3Gain-
CEP72-
-
-
-
4Gain-
CEP76-
-
-
-
5Amp-
CEP78-
-
-
-
3Gain-
CEP85-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CEP97-
-
-
-
1Loss-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERK-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CETN1-
-
-
-
4Gain-
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
3Gain-
CFAP410-
-
-
-
1Loss-
CFAP44-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54p.N954H
Missense
SNP
0.158
2--
CFAP57-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP69-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
3Gain-
CFL2-
-
-
-
3Gain-
CFTR-
-
-
-
1Loss-
CGB3-
-
-
-
3Gain-
CGB5-
-
-
-
3Gain-
CGB8-
-
-
-
3Gain-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGRRF1-
-
-
-
3Gain-
CHADL-
-
-
-
3Gain-
CHAF1B-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
1Loss-
CHCHD7-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
1Loss-
CHD7-
-
-
-
5Amp-
CHD8-
-
-
-
3Gain-
CHDH-
-
-
-
1Loss-
CHEK1-
-
-
-
3Gain-
CHEK2-
-
-
-
3Gain-
CHGA-
-
-
-
3Gain-
CHGB-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHIT1-
-
-
-
3Gain-
CHKA-
-
-
-
3Gain-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHL1-
-
-
-
1Loss-
CHMP1B-
-
-
-
5Amp-
CHMP2B-
-
-
-
1Loss-
CHMP4A-
-
-
-
3Gain-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
5Amp-
CHMP5-
-
-
-
6Amp-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHODL-
-
-
-
1Loss-
CHORDC1-
-
-
-
3Gain-
CHPF2-
-
-
-
1Loss-
CHRAC1-
-
-
-
4Gain-
CHRD-
-
-
-
3Gain-
CHRDL2-
-
-
-
3Gain-
CHRM1-
-
-
-
3Gain-
CHRM2-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM4-
-
-
-
3Gain-
CHRNA2-
-
-
-
1Loss-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
1Loss-
CHRNA5-
-
-
-
1Loss-
CHRNA6-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
1Loss-
CHST2-
-
-
-
6Amp-
CHST5p.E60*
Nonsense
SNP
0.762
2--
CHST8-
-
-
-
1Loss-
CHST9-
-
-
-
3Gain-
CHSY1-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
3Gain-
CHURC1-FNTB-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CICp.A1259S
Missense
SNP
0.167
2--
CIDEA-
-
-
-
5Amp-
CIDEB-
-
-
-
3Gain-
CIDEC-
-
-
-
1Loss-
CILP-
-
-
-
3Gain-
CINP-
-
-
-
3Gain-
CIP2A-
-
-
-
1Loss-
CIPC-
-
-
-
3Gain-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CITED4-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP5-
-
-
-
3Gain-
CKB-
-
-
-
3Gain-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLBA1-
-
-
-
3Gain-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCF1-
-
-
-
3Gain-
CLCN1-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLCN3-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
3Gain-
CLDN12-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN15-
-
-
-
1Loss-
CLDN16-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN18-
-
-
-
3Gain-
CLDN19-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN5-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDND1-
-
-
-
4Gain-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
3Gain-
CLEC14A-
-
-
-
3Gain-
CLEC2L-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC5A-
-
-
-
1Loss-
CLGN-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP2-
-
-
-
3Gain-
CLIP3p.A291S
Missense
SNP
0.306
2--
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLMN-
-
-
-
3Gain-
CLMP-
-
-
-
3Gain-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLNS1A-
-
-
-
3Gain-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
3Gain-
CLPB-
-
-
-
3Gain-
CLPTM1L-
-
-
-
4Gain-
CLPX-
-
-
-
3Gain-
CLRN1-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLSPN-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLSTN2-
-
-
-
3Gain-
CLTA-
-
-
-
8Amp-
CLTBp.A24Rfs*15
Frame_Shift_Del
DEL
0.978
1Loss-
CLTCL1-
-
-
-
3Gain-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
4Gain-
CLVS1-
-
-
-
5Amp-
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
3Gain-
CMBL-
-
-
-
4Gain-
CMC1-
-
-
-
1Loss-
CMPK1-
-
-
-
1Loss-
CMSS1-
-
-
-
1Loss-
CMTM5-
-
-
-
3Gain-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD1-
-
-
-
5Amp-
CNBD2-
-
-
-
1Loss-
CNBP-
-
-
-
5Amp-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNGA1-
-
-
-
1Loss-
CNGA4p.N142Y
Missense
SNP
0.216
2--
CNGB3-
-
-
-
5Amp-
CNIH1-
-
-
-
3Gain-
CNIH2-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT3-
-
-
-
3Gain-
CNOT4-
-
-
-
1Loss-
CNOT6-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
1Loss-
CNPY4-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNTF-
-
-
-
3Gain-
CNTFR-
-
-
-
8Amp-
CNTLN-
-
-
-
1Loss-
CNTN2-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5p.A708V
Missense
SNP
0.444
3Gain-
CNTN6-
-
-
-
1Loss-
CNTNAP2-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA4-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COA7-
-
-
-
1Loss-
COBL-
-
-
-
3Gain-
COCH-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG5-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COG8p.S56L
Missense
SNP
0.327
2--
COL11A1-
-
-
-
1Loss-
COL14A1-
-
-
-
5Amp-
COL15A1-
-
-
-
3Gain-
COL16A1-
-
-
-
1Loss-
COL18A1-
-
-
-
1Loss-
COL1A2-
-
-
-
1Loss-
COL20A1-
-
-
-
1Loss-
COL22A1-
-
-
-
4Gain-
COL23A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL25A1-
-
-
-
1Loss-
COL26A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL6A5-
-
-
-
5Amp-
COL6A6-
-
-
-
5Amp-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
1Loss-
COL8A2-
-
-
-
1Loss-
COL9A2-
-
-
-
1Loss-
COL9A3-
-
-
-
1Loss-
COLCA2-
-
-
-
3Gain-
COLEC10-
-
-
-
5Amp-
COLEC12-
-
-
-
4Gain-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
4Gain-
COMMD6-
-
-
-
1Loss-
COMMD7-
-
-
-
3Gain-
COMMD8-
-
-
-
1Loss-
COMMD9-
-
-
-
3Gain-
COMT-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
3Gain-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
5Amp-
COPG2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
5Amp-
COPS6-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ6-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
CORIN-
-
-
-
1Loss-
CORO1B-
-
-
-
3Gain-
CORO2A-
-
-
-
3Gain-
CORO2B-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX16-
-
-
-
3Gain-
COX17-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX4I2-
-
-
-
3Gain-
COX5A-
-
-
-
1Loss-
COX6B1-
-
-
-
1Loss-
COX6C-
-
-
-
5Amp-
COX7B2-
-
-
-
1Loss-
COX8A-
-
-
-
3Gain-
COX8C-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
1Loss-
CPA2-
-
-
-
1Loss-
CPA3-
-
-
-
3Gain-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPA6-
-
-
-
5Amp-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPE-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
1Loss-
CPLANE1-
-
-
-
4Gain-
CPLANE2-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPN2-
-
-
-
1Loss-
CPNE1-
-
-
-
1Loss-
CPNE3-
-
-
-
5Amp-
CPNE4-
-
-
-
5Amp-
CPNE6-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPOXp.R98Q
Missense
SNP
0.132
4Gain-
CPQ-
-
-
-
5Amp-
CPSF1-
-
-
-
4Gain-
CPSF2-
-
-
-
3Gain-
CPSF4-
-
-
-
1Loss-
CPSF7-
-
-
-
3Gain-
CPT1A-
-
-
-
3Gain-
CPT1B-
-
-
-
3Gain-
CPT1C-
-
-
-
3Gain-
CPT2-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRBN-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
8Amp-
CREB3L1-
-
-
-
3Gain-
CREB3L2-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBPp.X1260_splice
Splice_Site
SNP
0.738
2--
CREBRF-
-
-
-
1Loss-
CREBZF-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
3Gain-
CRH-
-
-
-
5Amp-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
5Amp-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRLS1-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CRNKL1-
-
-
-
3Gain-
CRNN-
-
-
-
4Gain-
CROCC-
-
-
-
1Loss-
CROT-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAM-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
1Loss-
CRY2-
-
-
-
3Gain-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYAB-
-
-
-
3Gain-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYBG2-
-
-
-
1Loss-
CRYBG3-
-
-
-
4Gain-
CRYGN-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CRYZ-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSDC2-
-
-
-
3Gain-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
1Loss-
CSF1-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RB-
-
-
-
3Gain-
CSF3R-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSKMT-
-
-
-
3Gain-
CSMD1-
-
-
-
1Loss-
CSMD2p.L2173Cfs*37
Frame_Shift_Del
DEL
1.000
1Loss-
CSMD3p.W1230F
Missense
MNP
0.408
5Amp-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1E-
-
-
-
3Gain-
CSNK1G1-
-
-
-
3Gain-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2A3-
-
-
-
3Gain-
CSPG4-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
5Amp-
CSRNP1-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSRP3-
-
-
-
3Gain-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST6-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTA-
-
-
-
1Loss-
CSTB-
-
-
-
1Loss-
CSTF1-
-
-
-
1Loss-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
3Gain-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTAGE15-
-
-
-
1Loss-
CTAGE4-
-
-
-
1Loss-
CTAGE6-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
3Gain-
CTDSPL-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTHRC1-
-
-
-
5Amp-
CTIF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
1Loss-
CTNND1-
-
-
-
3Gain-
CTNND2-
-
-
-
4Gain-
CTNS-
-
-
-
1Loss-
CTPS1-
-
-
-
1Loss-
CTR9-
-
-
-
3Gain-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSC-
-
-
-
3Gain-
CTSE-
-
-
-
3Gain-
CTSF-
-
-
-
3Gain-
CTSG-
-
-
-
3Gain-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
3Gain-
CTSO-
-
-
-
1Loss-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTSW-
-
-
-
3Gain-
CTSZ-
-
-
-
1Loss-
CTTN-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBNp.F2680L
Missense
SNP
0.628
2--
CUL1-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUL5-
-
-
-
3Gain-
CUX1-
-
-
-
1Loss-
CWC15-
-
-
-
3Gain-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
3Gain-
CWH43-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR5-
-
-
-
3Gain-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561A3-
-
-
-
3Gain-
CYB561D1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
3Gain-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R2-
-
-
-
3Gain-
CYB5R3-
-
-
-
3Gain-
CYB5RL-
-
-
-
1Loss-
CYC1-
-
-
-
4Gain-
CYCS-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYHR1-
-
-
-
4Gain-
CYLC2-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
4Gain-
CYP11B2-
-
-
-
4Gain-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
1Loss-
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2J2-
-
-
-
1Loss-
CYP2R1-
-
-
-
3Gain-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
1Loss-
CYP3A43-
-
-
-
1Loss-
CYP3A5-
-
-
-
1Loss-
CYP3A7-
-
-
-
1Loss-
CYP3A7-CYP3A51P-
-
-
-
1Loss-
CYP46A1-
-
-
-
3Gain-
CYP4A11-
-
-
-
1Loss-
CYP4A22-
-
-
-
1Loss-
CYP4B1-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYP4X1-
-
-
-
1Loss-
CYP4Z1-
-
-
-
1Loss-
CYP51A1-
-
-
-
1Loss-
CYP7A1-
-
-
-
5Amp-
CYP7B1-
-
-
-
5Amp-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
3Gain-
CYTIPp.L178Q
Missense
SNP
0.474
2--
CYTL1-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
DAAM1-
-
-
-
3Gain-
DAB1-
-
-
-
1Loss-
DAB2-
-
-
-
4Gain-
DACH1-
-
-
-
1Loss-
DACT1-
-
-
-
3Gain-
DAD1-
-
-
-
3Gain-
DAG1-
-
-
-
1Loss-
DAGLA-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
4Gain-
DAP3-
-
-
-
3Gain-
DAPK1-
-
-
-
3Gain-
DAPK2-
-
-
-
3Gain-
DAPP1-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBF4-
-
-
-
1Loss-
DBN1-
-
-
-
1Loss-
DBNDD2-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DBR1-
-
-
-
3Gain-
DBT-
-
-
-
1Loss-
DBX1-
-
-
-
3Gain-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
3Gain-
DCAF12-
-
-
-
8Amp-
DCAF12L1p.G238C
Missense
SNP
0.215
NDND-
DCAF13-
-
-
-
5Amp-
DCAF16-
-
-
-
1Loss-
DCAF4-
-
-
-
3Gain-
DCAF4L1-
-
-
-
1Loss-
DCAF4L2-
-
-
-
5Amp-
DCAF5-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCBLD2-
-
-
-
4Gain-
DCC-
-
-
-
1Loss-
DCDC1-
-
-
-
3Gain-
DCDC2B-
-
-
-
1Loss-
DCHS1-
-
-
-
3Gain-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
3Gain-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
5Amp-
DCT-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN3-
-
-
-
8Amp-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D1-
-
-
-
5Amp-
DCUN1D2-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
3Gain-
DDAH1-
-
-
-
1Loss-
DDB1-
-
-
-
3Gain-
DDB2-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDHD1-
-
-
-
3Gain-
DDI1-
-
-
-
3Gain-
DDI2-
-
-
-
1Loss-
DDIAS-
-
-
-
3Gain-
DDIT4L-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX10-
-
-
-
3Gain-
DDX17-
-
-
-
3Gain-
DDX20-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX24-
-
-
-
3Gain-
DDX25-
-
-
-
3Gain-
DDX27-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
6Amp-
DDX59-
-
-
-
3Gain-
DDX6-
-
-
-
3Gain-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DECR1-
-
-
-
5Amp-
DEDD-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125p.T121I
Missense
SNP
0.524
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
1Loss-
DENND2C-
-
-
-
1Loss-
DENND2D-
-
-
-
1Loss-
DENND3-
-
-
-
4Gain-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
3Gain-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
3Gain-
DEPDC1-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC5-
-
-
-
3Gain-
DEPDC7-
-
-
-
3Gain-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
5Amp-
DERL1-
-
-
-
5Amp-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
3Gain-
DESp.G411R
Missense
SNP
0.484
2--
DESI1-
-
-
-
3Gain-
DET1-
-
-
-
1Loss-
DEUP1-
-
-
-
3Gain-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGAT1-
-
-
-
4Gain-
DGAT2-
-
-
-
3Gain-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKI-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DGKZ-
-
-
-
3Gain-
DGLUCY-
-
-
-
3Gain-
DHCR24-
-
-
-
1Loss-
DHCR7-
-
-
-
3Gain-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
3Gain-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHRS1-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS2-
-
-
-
3Gain-
DHRS3-
-
-
-
1Loss-
DHRS4-
-
-
-
3Gain-
DHRS4L2-
-
-
-
3Gain-
DHRS7-
-
-
-
3Gain-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX35-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DICER1-
-
-
-
3Gain-
DIDO1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO1-
-
-
-
1Loss-
DIO2-
-
-
-
3Gain-
DIO3-
-
-
-
3Gain-
DIP2A-
-
-
-
1Loss-
DIRAS2-
-
-
-
3Gain-
DIRAS3-
-
-
-
1Loss-
DIRC2-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP3-
-
-
-
1Loss-
DIXDC1-
-
-
-
3Gain-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
3Gain-
DKK4-
-
-
-
1Loss-
DKKL1-
-
-
-
3Gain-
DLAT-
-
-
-
3Gain-
DLC1-
-
-
-
1Loss-
DLD-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
1Loss-
DLG2-
-
-
-
3Gain-
DLG4-
-
-
-
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP3-
-
-
-
1Loss-
DLGAP4-
-
-
-
1Loss-
DLGAP5-
-
-
-
3Gain-
DLK1-
-
-
-
3Gain-
DLST-
-
-
-
3Gain-
DLX5-
-
-
-
1Loss-
DLX6-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMAP1-
-
-
-
1Loss-
DMBX1-
-
-
-
1Loss-
DMC1-
-
-
-
3Gain-
DMGDH-
-
-
-
1Loss-
DMKN-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMRTA2-
-
-
-
1Loss-
DMRTB1-
-
-
-
1Loss-
DMTF1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL1p.T2046N
Missense
SNP
1.000
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF2-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH11-
-
-
-
3Gain-
DNAH12-
-
-
-
1Loss-
DNAH14-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH3p.G1219Afs*2
p.R1326L
Frame_Shift_Del
Missense
DEL
SNP
0.686
0.409
2--
DNAH5p.E1336*
Nonsense
SNP
0.341
4Gain-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
8Amp-
DNAJA1-
-
-
-
6Amp-
DNAJA4-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB13-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
8Amp-
DNAJB6-
-
-
-
1Loss-
DNAJB7-
-
-
-
3Gain-
DNAJB8-
-
-
-
5Amp-
DNAJB9-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
5Amp-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
5Amp-
DNAJC2-
-
-
-
1Loss-
DNAJC21-
-
-
-
4Gain-
DNAJC24-
-
-
-
3Gain-
DNAJC28-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC30-
-
-
-
3Gain-
DNAJC4-
-
-
-
3Gain-
DNAJC5-
-
-
-
1Loss-
DNAJC5B-
-
-
-
5Amp-
DNAJC6-
-
-
-
1Loss-
DNAJC8-
-
-
-
1Loss-
DNAL1-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DNALI1-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNHD1-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT3B-
-
-
-
3Gain-
DNMT3L-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
1Loss-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK11p.P1243Qfs*41
p.M69I
Frame_Shift_Del
Missense
DEL
SNP
0.325
0.394
NDND-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK3p.A358S
Missense
SNP
1.000
1Loss-
DOK5-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPAGT1-
-
-
-
3Gain-
DPF2-
-
-
-
3Gain-
DPF3-
-
-
-
3Gain-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPM1-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP3-
-
-
-
3Gain-
DPP6-
-
-
-
1Loss-
DPP8-
-
-
-
3Gain-
DPPA2-
-
-
-
1Loss-
DPPA4-
-
-
-
1Loss-
DPRX-
-
-
-
3Gain-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
5Amp-
DPYD-
-
-
-
1Loss-
DPYS-
-
-
-
5Amp-
DPYSL2-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRAM2-
-
-
-
1Loss-
DRAP1-
-
-
-
3Gain-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD2-
-
-
-
3Gain-
DRD3p.Q25H
Missense
SNP
0.640
1Loss-
DRD5-
-
-
-
1Loss-
DRG1-
-
-
-
3Gain-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
4Gain-
DSC1-
-
-
-
6Amp-
DSC2-
-
-
-
6Amp-
DSC3-
-
-
-
6Amp-
DSCAM-
-
-
-
1Loss-
DSCAML1-
-
-
-
3Gain-
DSCC1-
-
-
-
5Amp-
DSELp.A43V
Missense
SNP
0.629
5Amp-
DSG1-
-
-
-
6Amp-
DSG2-
-
-
-
6Amp-
DSG3-
-
-
-
6Amp-
DSG4-
-
-
-
6Amp-
DSN1-
-
-
-
1Loss-
DSPP-
-
-
-
1Loss-
DSTN-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTD2-
-
-
-
3Gain-
DTHD1-
-
-
-
1Loss-
DTL-
-
-
-
3Gain-
DTNA-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTX3L-
-
-
-
1Loss-
DTX4p.E581D
Missense
SNP
0.568
3Gain-
DUS4L-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP15-
-
-
-
3Gain-
DUSP18-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27-
-
-
-
3Gain-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
5Amp-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
3Gain-
DYNC1I1-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
3Gain-
DYNLRB1-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DYSFp.R1749G
Missense
SNP
0.686
2--
DZANK1-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
1Loss-
E2F1-
-
-
-
3Gain-
E2F2-
-
-
-
1Loss-
E2F5-
-
-
-
5Amp-
E2F8-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
1Loss-
EAPP-
-
-
-
3Gain-
EBAG9-
-
-
-
5Amp-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBF4-
-
-
-
3Gain-
EBLN2-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECHDC2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
7Amp-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDEM1-
-
-
-
1Loss-
EDEM2-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EDN2-
-
-
-
1Loss-
EDN3-
-
-
-
1Loss-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EED-
-
-
-
3Gain-
EEF1A2-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
1Loss-
EEF1D-
-
-
-
4Gain-
EEF1G-
-
-
-
3Gain-
EEFSEC-
-
-
-
5Amp-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB10-
-
-
-
1Loss-
EFCAB11-
-
-
-
3Gain-
EFCAB12-
-
-
-
5Amp-
EFCAB14-
-
-
-
1Loss-
EFCAB6-
-
-
-
3Gain-
EFCAB7-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
5Amp-
EFEMP2-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
4Gain-
EFS-
-
-
-
3Gain-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
4Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGLN3-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHBP1L1-
-
-
-
3Gain-
EHD1-
-
-
-
3Gain-
EHF-
-
-
-
3Gain-
EHHADH-
-
-
-
3Gain-
EI24-
-
-
-
3Gain-
EIF1AD-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B2-
-
-
-
3Gain-
EIF2B3-
-
-
-
1Loss-
EIF2B5-
-
-
-
5Amp-
EIF2D-
-
-
-
3Gain-
EIF2S1-
-
-
-
3Gain-
EIF2S2-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3E-
-
-
-
5Amp-
EIF3F-
-
-
-
3Gain-
EIF3H-
-
-
-
5Amp-
EIF3I-
-
-
-
1Loss-
EIF3L-
-
-
-
3Gain-
EIF3M-
-
-
-
3Gain-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G1-
-
-
-
3Gain-
EIF4G2-
-
-
-
3Gain-
EIF4G3-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
EIF6-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL4-
-
-
-
1Loss-
ELF1p.P172H
Missense
SNP
0.478
1Loss-
ELF2-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELF5-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL2-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
1Loss-
ELMOD1-
-
-
-
3Gain-
ELMOD2-
-
-
-
1Loss-
ELMSAN1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOC-
-
-
-
5Amp-
ELOVL1-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
3Gain-
ELP3-
-
-
-
1Loss-
ELP4-
-
-
-
3Gain-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
3Gain-
EMC2-
-
-
-
5Amp-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC9-
-
-
-
3Gain-
EMCN-
-
-
-
1Loss-
EMID1-
-
-
-
3Gain-
EMILIN3-
-
-
-
1Loss-
EML1-
-
-
-
3Gain-
EML3-
-
-
-
3Gain-
EML5-
-
-
-
3Gain-
EMSY-
-
-
-
3Gain-
EN2-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
3Gain-
ENHO-
-
-
-
8Amp-
ENO1-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
4Gain-
ENOX1-
-
-
-
1Loss-
ENOX2p.S542C
Missense
SNP
0.290
NDND-
ENPEP-
-
-
-
1Loss-
ENPP2-
-
-
-
5Amp-
ENPP6-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
3Gain-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
3Gain-
ENTPD6-
-
-
-
3Gain-
ENY2-
-
-
-
5Amp-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
3Gain-
EPB41-
-
-
-
1Loss-
EPB41L1-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPCAM-
-
-
-
2-EPCAM--SNORD83B
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA1-
-
-
-
1Loss-
EPHA10-
-
-
-
1Loss-
EPHA2p.I916M
Missense
SNP
1.000
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA6p.A877E
Missense
SNP
0.098
4Gain-
EPHA8-
-
-
-
1Loss-
EPHB1-
-
-
-
5Amp-
EPHB2-
-
-
-
1Loss-
EPHB3-
-
-
-
3Gain-
EPHB4-
-
-
-
1Loss-
EPHB6-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX4-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
1Loss-
EPPIN-
-
-
-
1Loss-
EPPIN-WFDC6-
-
-
-
1Loss-
EPPK1-
-
-
-
4Gain-
EPRS-
-
-
-
3Gain-
EPS15-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERCC6L2-
-
-
-
3Gain-
ERCC8-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERG28-
-
-
-
3Gain-
ERGIC1-
-
-
-
1Loss-
ERGIC3-
-
-
-
1Loss-
ERH-
-
-
-
3Gain-
ERI1-
-
-
-
1Loss-
ERI3-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH3-
-
-
-
1Loss-
ERICH5-
-
-
-
5Amp-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERLIN2-
-
-
-
3Gain-
ERMAP-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERO1Ap.K198T
Missense
SNP
0.370
3Gain-
ERO1B-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESAM-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESF1-
-
-
-
3Gain-
ESM1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESR2-
-
-
-
3Gain-
ESRP1-
-
-
-
5Amp-
ESRRA-
-
-
-
3Gain-
ESRRB-
-
-
-
3Gain-
ESRRG-
-
-
-
3Gain-
ESS2-
-
-
-
3Gain-
ESYT2-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETNPPL-
-
-
-
1Loss-
ETS1-
-
-
-
3Gain-
ETS2-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV2-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
EVA1B-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVL-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
3Gain-
EXD2-
-
-
-
3Gain-
EXO5-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
4Gain-
EXOC3L4-
-
-
-
3Gain-
EXOC4-
-
-
-
1Loss-
EXOC5-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
4Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
3Gain-
EXT1-
-
-
-
5Amp-
EXT2-
-
-
-
3Gain-
EXTL1-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
5Amp-
EYA2-
-
-
-
1Loss-
EYA3-
-
-
-
1Loss-
EZH2-
-
-
-
1Loss-
F10-
-
-
-
1Loss-
F11-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F12-
-
-
-
1Loss-
F13B-
-
-
-
3Gain-
F2-
-
-
-
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FAAH-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP12-
-
-
-
5Amp-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
1Loss-
FABP4-
-
-
-
5Amp-
FABP5-
-
-
-
5Amp-
FABP6-
-
-
-
1Loss-
FABP9-
-
-
-
5Amp-
FADD-
-
-
-
3Gain-
FADS1-
-
-
-
3Gain-
FADS2-
-
-
-
3Gain-
FADS3-
-
-
-
3Gain-
FAF1-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAH-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM102B-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM110D-
-
-
-
1Loss-
FAM111A-
-
-
-
3Gain-
FAM111B-
-
-
-
3Gain-
FAM114A1-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM118A-
-
-
-
3Gain-
FAM118B-
-
-
-
3Gain-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM124A-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM131A-
-
-
-
3Gain-
FAM131B-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
1Loss-
FAM135Bp.A128D
Missense
SNP
0.273
4Gain-
FAM13A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM151A-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160A2p.I678V
Missense
SNP
0.578
2--
FAM160B2-
-
-
-
1Loss-
FAM161B-
-
-
-
3Gain-
FAM162A-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM166B-
-
-
-
8Amp-
FAM167A-
-
-
-
1Loss-
FAM167B-
-
-
-
1Loss-
FAM168A-
-
-
-
3Gain-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
4Gain-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM177A1-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM180A-
-
-
-
1Loss-
FAM180B-
-
-
-
3Gain-
FAM181A-
-
-
-
3Gain-
FAM181B-
-
-
-
3Gain-
FAM183A-
-
-
-
1Loss-
FAM184B-
-
-
-
1Loss-
FAM185A-
-
-
-
1Loss-
FAM187B-
-
-
-
1Loss-
FAM189A2-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193A-
-
-
-
1Loss-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A3-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
3Gain-
FAM200A-
-
-
-
1Loss-
FAM200B-
-
-
-
1Loss-
FAM205A-
-
-
-
8Amp-
FAM205C-
-
-
-
8Amp-
FAM206A-
-
-
-
3Gain-
FAM207A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM209A-
-
-
-
1Loss-
FAM209B-
-
-
-
1Loss-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
5Amp-
FAM210B-
-
-
-
1Loss-
FAM214B-
-
-
-
8Amp-
FAM216B-
-
-
-
1Loss-
FAM217B-
-
-
-
1Loss-
FAM218A-
-
-
-
1Loss-
FAM219A-
-
-
-
8Amp-
FAM219B-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
8Amp-
FAM227A-
-
-
-
3Gain-
FAM229A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3C-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49B-
-
-
-
4Gain-
FAM53A-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69C-
-
-
-
3Gain-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM71D-
-
-
-
3Gain-
FAM71E1-
-
-
-
3Gain-
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM76A-
-
-
-
1Loss-
FAM76B-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83A-
-
-
-
5Amp-
FAM83C-
-
-
-
1Loss-
FAM83D-
-
-
-
1Loss-
FAM83F-
-
-
-
3Gain-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
4Gain-
FAM84B-
-
-
-
4Gain-
FAM86C1-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
3Gain-
FAM91A1-
-
-
-
4Gain-
FAM92A-
-
-
-
5Amp-
FANCC-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCF-
-
-
-
3Gain-
FANCG-
-
-
-
8Amp-
FANCI-
-
-
-
1Loss-
FANCM-
-
-
-
3Gain-
FAPp.R303*
Nonsense
SNP
0.379
2--
FAR1-
-
-
-
3Gain-
FARP1-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASTK-
-
-
-
1Loss-
FASTKD3-
-
-
-
4Gain-
FASTKD5-
-
-
-
3Gain-
FAT1-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAT3-
-
-
-
3Gain-
FAT4-
-
-
-
1Loss-
FAU-
-
-
-
3Gain-
FAXDC2-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1-
-
-
-
3Gain-
FBLN2-
-
-
-
1Loss-
FBLN5-
-
-
-
3Gain-
FBN2-
-
-
-
1Loss-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBXL13-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL22-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL6-
-
-
-
4Gain-
FBXL7-
-
-
-
4Gain-
FBXO10-
-
-
-
1Loss-
FBXO15-
-
-
-
3Gain-
FBXO16-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO24-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO3-
-
-
-
3Gain-
FBXO32-
-
-
-
5Amp-
FBXO33-
-
-
-
3Gain-
FBXO34-
-
-
-
3Gain-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
4Gain-
FBXO40-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
5Amp-
FBXO44-
-
-
-
1Loss-
FBXO45-
-
-
-
1Loss-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
3Gain-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCF1-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
1Loss-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCGRT-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCHSD2-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCN1p.I193T
Missense
SNP
0.243
2--
FCN3-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDCSP-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
3Gain-
FDXACB1-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FEN1-
-
-
-
3Gain-
FER-
-
-
-
1Loss-
FER1L6-
-
-
-
4Gain-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FERMT2-
-
-
-
3Gain-
FERMT3-
-
-
-
3Gain-
FES-
-
-
-
1Loss-
FETUB-
-
-
-
3Gain-
FEZ1-
-
-
-
3Gain-
FEZF1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
4Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF19-
-
-
-
3Gain-
FGF2-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF21-
-
-
-
3Gain-
FGF3-
-
-
-
3Gain-
FGF4-
-
-
-
3Gain-
FGF5-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFR4-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGGY-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FGL2-
-
-
-
1Loss-
FGR-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHDC1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL3-
-
-
-
1Loss-
FHOD3-
-
-
-
3Gain-
FIBIN-
-
-
-
3Gain-
FIBP-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FILIP1L-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FIS1-
-
-
-
1Loss-
FITM1-
-
-
-
3Gain-
FITM2-
-
-
-
1Loss-
FJX1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP2-
-
-
-
3Gain-
FKBP3-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKTN-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
4Gain-
FLG2-
-
-
-
4Gain-
FLI1-
-
-
-
3Gain-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLNC-
-
-
-
1Loss-
FLRT1-
-
-
-
3Gain-
FLRT2p.W411*
Frame_Shift_Del
DEL
0.626
3Gain-
FLRT3-
-
-
-
3Gain-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLT3LG-
-
-
-
3Gain-
FLT4-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FLVCR2-
-
-
-
3Gain-
FMC1-
-
-
-
1Loss-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNBP1L-
-
-
-
1Loss-
FNBP4-
-
-
-
3Gain-
FNDC10-
-
-
-
1Loss-
FNDC11-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
7Amp-
FNDC5-
-
-
-
1Loss-
FNDC7-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FNTA-
-
-
-
3Gain-
FNTB-
-
-
-
3Gain-
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLR1-
-
-
-
3Gain-
FOLR2-
-
-
-
3Gain-
FOLR3-
-
-
-
3Gain-
FOS-
-
-
-
3Gain-
FOSL1-
-
-
-
3Gain-
FOXA1-
-
-
-
3Gain-
FOXA2-
-
-
-
3Gain-
FOXB1-
-
-
-
3Gain-
FOXB2-
-
-
-
3Gain-
FOXD1-
-
-
-
1Loss-
FOXD2-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXE1-
-
-
-
3Gain-
FOXE3-
-
-
-
1Loss-
FOXG1-
-
-
-
3Gain-
FOXH1-
-
-
-
4Gain-
FOXI1-
-
-
-
1Loss-
FOXJ3-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXN3-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXO6-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FOXR1-
-
-
-
3Gain-
FOXRED1-
-
-
-
3Gain-
FOXRED2-
-
-
-
3Gain-
FOXS1-
-
-
-
3Gain-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FPR1-
-
-
-
3Gain-
FPR2-
-
-
-
3Gain-
FPR3-
-
-
-
3Gain-
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FRMD6-
-
-
-
3Gain-
FRMD8-
-
-
-
3Gain-
FRMPD1-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRRS1-
-
-
-
1Loss-
FRRS1L-
-
-
-
3Gain-
FRY-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FSBP-
-
-
-
5Amp-
FSCB-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
1Loss-
FSD1L-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSHB-
-
-
-
3Gain-
FSHRp.S659*
Nonsense
SNP
0.500
2--
FSIP2p.N5703Y
Missense
SNP
0.647
2--
FST-
-
-
-
1Loss-
FSTL1-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FSTL5-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FTH1-
-
-
-
3Gain-
FTL-
-
-
-
3Gain-
FTMT-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT1-
-
-
-
3Gain-
FUT10-
-
-
-
1Loss-
FUT4-
-
-
-
3Gain-
FUT8-
-
-
-
3Gain-
FUZ-
-
-
-
3Gain-
FXN-
-
-
-
3Gain-
FXR1-
-
-
-
5Amp-
FXR2-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD2-
-
-
-
3Gain-
FXYD3-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD6-
-
-
-
3Gain-
FXYD6-FXYD2-
-
-
-
3Gain-
FXYD7-
-
-
-
1Loss-
FYB1-
-
-
-
4Gain-
FYB2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
1Loss-
FZD1-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZD4-
-
-
-
3Gain-
FZD6-
-
-
-
5Amp-
FZD9-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G2E3-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GAB2-
-
-
-
3Gain-
GAB4-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPA-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRD-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR3-
-
-
-
4Gain-
GADD45A-
-
-
-
1Loss-
GADD45G-
-
-
-
3Gain-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
3Gain-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3-
-
-
-
3Gain-
GAL3ST4-
-
-
-
1Loss-
GALC-
-
-
-
3Gain-
GALE-
-
-
-
1Loss-
GALNT1-
-
-
-
3Gain-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT16-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT18-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT7-
-
-
-
1Loss-
GALNTL5-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
3Gain-
GALR3-
-
-
-
3Gain-
GALT-
-
-
-
8Amp-
GANAB-
-
-
-
3Gain-
GAP43-
-
-
-
1Loss-
GAPDHS-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
6Amp-
GARS-
-
-
-
3Gain-
GART-
-
-
-
1Loss-
GAS1-
-
-
-
3Gain-
GAS2-
-
-
-
3Gain-
GAS2L1-
-
-
-
3Gain-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
5Amp-
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
1Loss-
GATA6-
-
-
-
3Gain-
GATAD1-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATD3A-
-
-
-
0Del-
GATD3B-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
8Amp-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GBX1-
-
-
-
1Loss-
GC-
-
-
-
1Loss-
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
1Loss-
GCH1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCLM-
-
-
-
1Loss-
GCNT1-
-
-
-
3Gain-
GCNT3-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
1Loss-
GCSAM-
-
-
-
1Loss-
GDA-
-
-
-
3Gain-
GDAP1-
-
-
-
5Amp-
GDAP1L1-
-
-
-
1Loss-
GDAP2-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF5-
-
-
-
1Loss-
GDF6-
-
-
-
5Amp-
GDF9-
-
-
-
1Loss-
GDNF-
-
-
-
4Gain-
GDPD4-
-
-
-
3Gain-
GDPD5-
-
-
-
3Gain-
GDPGP1-
-
-
-
1Loss-
GEM-
-
-
-
5Amp-
GEMIN2-
-
-
-
3Gain-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFERp.S47W
Missense
SNP
0.738
2--
GFI1-
-
-
-
1Loss-
GFM1-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFY-
-
-
-
3Gain-
GGA1p.G324A
Missense
SNP
0.617
3Gain-
GGACT-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
5Amp-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
1Loss-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
3Gain-
GHR-
-
-
-
4Gain-
GHRH-
-
-
-
1Loss-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
7Amp-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
1Loss-
GIF-
-
-
-
3Gain-
GIGYF1-
-
-
-
1Loss-
GIMAP1-
-
-
-
1Loss-
GIMAP1-GIMAP5-
-
-
-
1Loss-
GIMAP2-
-
-
-
1Loss-
GIMAP4-
-
-
-
1Loss-
GIMAP5-
-
-
-
1Loss-
GIMAP6-
-
-
-
1Loss-
GIMAP7-
-
-
-
1Loss-
GIMAP8-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS4-
-
-
-
7Amp-
GIPC2-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJA4-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJA9-
-
-
-
1Loss-
GJA9-MYCBP-
-
-
-
1Loss-
GJB2-
-
-
-
1Loss-
GJB3-
-
-
-
1Loss-
GJB4-
-
-
-
1Loss-
GJB5-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GK5-
-
-
-
5Amp-
GKAP1-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L2-
-
-
-
3Gain-
GLB1L3-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
4Gain-
GLIPR2-
-
-
-
8Amp-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLRX5-
-
-
-
3Gain-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GLYAT-
-
-
-
3Gain-
GLYATL1-
-
-
-
3Gain-
GLYATL1B-
-
-
-
3Gain-
GLYATL2-
-
-
-
3Gain-
GLYATL3p.L68P
Missense
SNP
0.633
2--
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMEB2-
-
-
-
1Loss-
GMFB-
-
-
-
3Gain-
GML-
-
-
-
4Gain-
GMNC-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPR2-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNAI1-
-
-
-
1Loss-
GNAI2-
-
-
-
1Loss-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
5Amp-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNAT2-
-
-
-
1Loss-
GNAT3-
-
-
-
1Loss-
GNAZ-
-
-
-
3Gain-
GNB1-
-
-
-
1Loss-
GNB1L-
-
-
-
3Gain-
GNB2-
-
-
-
1Loss-
GNB4-
-
-
-
5Amp-
GNE-
-
-
-
8Amp-
GNG11-
-
-
-
1Loss-
GNG12-
-
-
-
1Loss-
GNG2-
-
-
-
3Gain-
GNG3-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
1Loss-
GNGT1-
-
-
-
1Loss-
GNL2-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNPNAT1-
-
-
-
3Gain-
GNRH1-
-
-
-
1Loss-
GNRH2-
-
-
-
3Gain-
GNRHR-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA5-
-
-
-
3Gain-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA7-
-
-
-
7Amp-
GOLGB1-
-
-
-
1Loss-
GOLIM4-
-
-
-
3Gain-
GOLM1-
-
-
-
3Gain-
GOLPH3-
-
-
-
4Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOT1L1-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP5-
-
-
-
1Loss-
GP9-
-
-
-
5Amp-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
4Gain-
GPALPP1-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPAT4-
-
-
-
7Amp-
GPATCH1-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH2L-
-
-
-
3Gain-
GPATCH3-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPBP1-
-
-
-
1Loss-
GPBP1L1-
-
-
-
1Loss-
GPC2-
-
-
-
1Loss-
GPC4p.A467T
Missense
SNP
0.288
NDND-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPCPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHA2-
-
-
-
3Gain-
GPHB5-
-
-
-
3Gain-
GPHN-
-
-
-
3Gain-
GPI-
-
-
-
1Loss-
GPIHBP1-
-
-
-
4Gain-
GPM6A-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPNMB-
-
-
-
3Gain-
GPR12-
-
-
-
1Loss-
GPR132-
-
-
-
3Gain-
GPR135-
-
-
-
3Gain-
GPR137-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR137C-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
4Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR152-
-
-
-
3Gain-
GPR153-
-
-
-
1Loss-
GPR156-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
4Gain-
GPR22-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR32-
-
-
-
3Gain-
GPR33-
-
-
-
3Gain-
GPR37-
-
-
-
1Loss-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR61-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR65p.D111E
Missense
SNP
0.574
3Gain-
GPR68-
-
-
-
3Gain-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
3Gain-
GPR85-
-
-
-
1Loss-
GPR87-
-
-
-
3Gain-
GPR88-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRIN1-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPT-
-
-
-
4Gain-
GPX1-
-
-
-
1Loss-
GPX2-
-
-
-
3Gain-
GPX3-
-
-
-
1Loss-
GPX7-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1A-
-
-
-
1Loss-
GRAMD1B-
-
-
-
3Gain-
GRAMD1C-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAMD4-
-
-
-
3Gain-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
3Gain-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRB7p.A142Lfs*15
Frame_Shift_Del
DEL
0.433
2--
GREB1Lp.T195K
Missense
SNP
0.185
3Gain-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
5Amp-
GRHL3-
-
-
-
1Loss-
GRHPR-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA2-
-
-
-
1Loss-
GRIA4-
-
-
-
3Gain-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1-
-
-
-
1Loss-
GRIK3-
-
-
-
1Loss-
GRIK4-
-
-
-
3Gain-
GRIN3A-
-
-
-
3Gain-
GRINA-
-
-
-
4Gain-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK2-
-
-
-
3Gain-
GRK3-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
5Amp-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
1Loss-
GRM5p.P269H
Missense
SNP
0.519
3Gain-
GRM6-
-
-
-
1Loss-
GRM7p.K889N
Missense
SNP
1.000
1Loss-
GRM8-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
1Loss-
GSC-
-
-
-
3Gain-
GSC2-
-
-
-
3Gain-
GSDMC-
-
-
-
4Gain-
GSDMD-
-
-
-
4Gain-
GSDME-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
1Loss-
GSKIP-
-
-
-
3Gain-
GSR-
-
-
-
1Loss-
GSS-
-
-
-
1Loss-
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
1Loss-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTP1-
-
-
-
3Gain-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GSTZ1-
-
-
-
3Gain-
GSX1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTF2A1-
-
-
-
3Gain-
GTF2A2-
-
-
-
3Gain-
GTF2B-
-
-
-
1Loss-
GTF2E1-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H1-
-
-
-
3Gain-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3A-
-
-
-
1Loss-
GTPBP1-
-
-
-
3Gain-
GTPBP10-
-
-
-
1Loss-
GTPBP8-
-
-
-
1Loss-
GTSE1-
-
-
-
3Gain-
GTSF1L-
-
-
-
1Loss-
GUCA1C-
-
-
-
1Loss-
GUCA2A-
-
-
-
1Loss-
GUCA2B-
-
-
-
1Loss-
GUCD1-
-
-
-
3Gain-
GUCY1A1-
-
-
-
1Loss-
GUCY1A2-
-
-
-
3Gain-
GUCY1B1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GVQW3-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GYS1-
-
-
-
3Gain-
GZF1-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMB-
-
-
-
3Gain-
GZMH-
-
-
-
3Gain-
GZMK-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
H1FOO-
-
-
-
5Amp-
H1FX-
-
-
-
5Amp-
H2AFV-
-
-
-
3Gain-
H2AFX-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H6PD-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD2-
-
-
-
1Loss-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAMP-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAND2p.H10D
Missense
SNP
1.000
1Loss-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAP1p.G18W
Missense
SNP
0.393
2--
HAPLN1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
1Loss-
HARBI1-
-
-
-
3Gain-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS1-
-
-
-
3Gain-
HAS2-
-
-
-
5Amp-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS4-
-
-
-
3Gain-
HAUS5-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBEGF-
-
-
-
1Loss-
HBP1-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCLS1-
-
-
-
1Loss-
HCN1-
-
-
-
4Gain-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HCRTR1-
-
-
-
1Loss-
HDAC1-
-
-
-
1Loss-
HDAC10-
-
-
-
3Gain-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDDC3-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD5-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR4-
-
-
-
3Gain-
HEATR5A-
-
-
-
3Gain-
HECTD1-
-
-
-
3Gain-
HECTD3-
-
-
-
1Loss-
HECW1-
-
-
-
3Gain-
HECW2p.D81H
Missense
SNP
0.333
2--
HEG1-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ2-
-
-
-
1Loss-
HEMGN-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HENMT1-
-
-
-
1Loss-
HEPACAM-
-
-
-
3Gain-
HEPACAM2-
-
-
-
1Loss-
HEPHL1-
-
-
-
3Gain-
HEPN1-
-
-
-
3Gain-
HERC1-
-
-
-
3Gain-
HERC3-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6p.S801R
Missense
SNP
1.000
1Loss-
HERPUD2-
-
-
-
3Gain-
HES1-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY1-
-
-
-
5Amp-
HEYL-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGD-
-
-
-
1Loss-
HGF-
-
-
-
1Loss-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
4Gain-
HGSNAT-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHIPL1-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
4Gain-
HHLA2-
-
-
-
1Loss-
HHLA3-
-
-
-
1Loss-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
3Gain-
HIF1A-
-
-
-
3Gain-
HIGD2A-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HIKESHI-
-
-
-
3Gain-
HILPDA-
-
-
-
1Loss-
HINFP-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
8Amp-
HIP1-
-
-
-
3Gain-
HIPK1-
-
-
-
1Loss-
HIPK2-
-
-
-
1Loss-
HIPK3-
-
-
-
3Gain-
HIRA-
-
-
-
3Gain-
HIST1H3Jp.Y55*
Nonsense
SNP
0.615
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP3-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HLA-DPA1p.A42V
Missense
SNP
0.136
2--
HLCS-
-
-
-
1Loss-
HLTF-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMBS-
-
-
-
3Gain-
HMCES-
-
-
-
5Amp-
HMCN1p.T4896S
Missense
SNP
0.311
3Gain-
HMG20A-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGB4-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
4Gain-
HMGCS2-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
3Gain-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
3Gain-
HMSD-
-
-
-
5Amp-
HMX1-
-
-
-
1Loss-
HMX2p.A126V
Missense
SNP
0.253
2--
HNF4A-
-
-
-
1Loss-
HNF4G-
-
-
-
5Amp-
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPC-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPR-
-
-
-
1Loss-
HNRNPUL2-
-
-
-
3Gain-
HNRNPUL2-BSCL2-
-
-
-
3Gain-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOMEZ-
-
-
-
3Gain-
HOOK1-
-
-
-
1Loss-
HOOK3-
-
-
-
3Gain-
HOPX-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3p.M159I
Missense
SNP
0.404
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HP1BP3-
-
-
-
1Loss-
HPCA-
-
-
-
1Loss-
HPCAL4-
-
-
-
1Loss-
HPDL-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPN-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPS4-
-
-
-
3Gain-
HPS5-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HPX-
-
-
-
3Gain-
HR-
-
-
-
1Loss-
HRASLS-
-
-
-
1Loss-
HRASLS2-
-
-
-
3Gain-
HRASLS5-
-
-
-
3Gain-
HRC-
-
-
-
3Gain-
HRCT1-
-
-
-
8Amp-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRH3-
-
-
-
1Loss-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
4Gain-
HS2ST1-
-
-
-
1Loss-
HS3ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
3Gain-
HSCB-
-
-
-
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD17B11-
-
-
-
1Loss-
HSD17B12-
-
-
-
3Gain-
HSD17B13-
-
-
-
1Loss-
HSD17B14-
-
-
-
3Gain-
HSD17B3-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSF1-
-
-
-
4Gain-
HSF2BP-
-
-
-
1Loss-
HSP90AA1-
-
-
-
3Gain-
HSPA12B-
-
-
-
3Gain-
HSPA13p.G406V
Missense
SNP
1.000
1Loss-
HSPA2-
-
-
-
3Gain-
HSPA4-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB11-
-
-
-
1Loss-
HSPB2-
-
-
-
3Gain-
HSPB2-C11orf52-
-
-
-
3Gain-
HSPB3-
-
-
-
1Loss-
HSPB6-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPBAP1-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HSPH1-
-
-
-
1Loss-
HTATIP2-
-
-
-
3Gain-
HTD2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR3A-
-
-
-
3Gain-
HTR3B-
-
-
-
3Gain-
HTR3C-
-
-
-
5Amp-
HTR3D-
-
-
-
5Amp-
HTR3E-
-
-
-
5Amp-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTRA4-
-
-
-
3Gain-
HTT-
-
-
-
1Loss-
HUNK-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
1Loss-
HYI-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
3Gain-
HYOU1-
-
-
-
3Gain-
IARS-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICE1-
-
-
-
4Gain-
ICE2-
-
-
-
3Gain-
ICMT-
-
-
-
1Loss-
ICOSLG-
-
-
-
0Del-
ID1-
-
-
-
3Gain-
ID3-
-
-
-
1Loss-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IDUA-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFFO2-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFI27-
-
-
-
3Gain-
IFI27L1-
-
-
-
3Gain-
IFI27L2-
-
-
-
3Gain-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
5Amp-
IFT22-
-
-
-
1Loss-
IFT27-
-
-
-
3Gain-
IFT43-
-
-
-
3Gain-
IFT46-
-
-
-
3Gain-
IFT52-
-
-
-
1Loss-
IFT57-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IFT80-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1R-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP7-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGHD-
-
-
-
3Gain-
IGHMBP2-
-
-
-
3Gain-
IGHV3-72-
-
-
-
3Gain-
IGIP-
-
-
-
1Loss-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLV10-54-
-
-
-
3Gain-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF22-
-
-
-
3Gain-
IGSF3-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
3Gain-
IK-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RA-
-
-
-
3Gain-
IL10RB-
-
-
-
1Loss-
IL11RA-
-
-
-
8Amp-
IL12A-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL12RB2-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL13RA2p.R224I
Missense
SNP
0.271
NDND-
IL15-
-
-
-
1Loss-
IL16-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
3Gain-
IL18-
-
-
-
3Gain-
IL18BP-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL1RAP-
-
-
-
1Loss-
IL2-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL20RB-
-
-
-
5Amp-
IL21-
-
-
-
1Loss-
IL22RA1-
-
-
-
1Loss-
IL23R-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL25-
-
-
-
3Gain-
IL2RBp.P457Lfs*75
Frame_Shift_Del
DEL
0.511
3Gain-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL4I1-
-
-
-
3Gain-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7-
-
-
-
5Amp-
IL7R-
-
-
-
4Gain-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
1Loss-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILK-
-
-
-
3Gain-
IMMP1L-
-
-
-
3Gain-
IMMP2L-
-
-
-
1Loss-
IMP3-
-
-
-
1Loss-
IMPA1-
-
-
-
5Amp-
IMPA2-
-
-
-
5Amp-
IMPACT-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
3Gain-
INF2-
-
-
-
3Gain-
ING1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
ING3-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INKA2-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INPP4B-
-
-
-
1Loss-
INPP5B-
-
-
-
1Loss-
INPP5J-
-
-
-
3Gain-
INPP5K-
-
-
-
1Loss-
INPPL1-
-
-
-
3Gain-
INSC-
-
-
-
3Gain-
INSIG1-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM1-
-
-
-
3Gain-
INSM2-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS11-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS14-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
3Gain-
INTS5-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
5Amp-
INTS9-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
INVS-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO13-
-
-
-
1Loss-
IPO4-
-
-
-
3Gain-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IPP-
-
-
-
1Loss-
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
4Gain-
IQCB1-
-
-
-
1Loss-
IQCC-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
1Loss-
IQCH-
-
-
-
1Loss-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IQUB-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
3Gain-
IRF3-
-
-
-
3Gain-
IRF5-
-
-
-
1Loss-
IRF6-
-
-
-
3Gain-
IRF9-
-
-
-
3Gain-
IRGM-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRS4p.R329I
Missense
SNP
0.374
NDND-
IRX1-
-
-
-
4Gain-
IRX2-
-
-
-
4Gain-
IRX4-
-
-
-
4Gain-
ISCA1-
-
-
-
3Gain-
ISCA2-
-
-
-
3Gain-
ISG15-
-
-
-
1Loss-
ISG20-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISM2-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
ISX-
-
-
-
3Gain-
ISY1-
-
-
-
5Amp-
ISY1-RAB43-
-
-
-
5Amp-
ITCH-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA4p.*/X1033*/X
Frame_Shift_Del
DEL
0.600
2--
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGB3BP-
-
-
-
1Loss-
ITGB5-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
1Loss-
ITPA-
-
-
-
3Gain-
ITPK1-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPR1p.V2641L
Missense
SNP
1.000
1Loss-
ITPRID1-
-
-
-
3Gain-
ITSN1-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IZUMO1-
-
-
-
3Gain-
IZUMO1R-
-
-
-
3Gain-
IZUMO2-
-
-
-
3Gain-
IZUMO3-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAG2-
-
-
-
3Gain-
JAGN1-
-
-
-
1Loss-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JAM3-
-
-
-
3Gain-
JAML-
-
-
-
3Gain-
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JDP2-
-
-
-
3Gain-
JHY-
-
-
-
3Gain-
JKAMP-
-
-
-
3Gain-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
3Gain-
JOSD2-
-
-
-
3Gain-
JPH1-
-
-
-
5Amp-
JPH2-
-
-
-
1Loss-
JPH4-
-
-
-
3Gain-
JRK-
-
-
-
4Gain-
JRKL-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
1Loss-
KALRN-
-
-
-
1Loss-
KANK1-
-
-
-
1Loss-
KANK4-
-
-
-
1Loss-
KAT14p.Y756N
Missense
SNP
0.436
3Gain-
KAT2B-
-
-
-
1Loss-
KAT5-
-
-
-
3Gain-
KAT6A-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD12-
-
-
-
5Amp-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD3-
-
-
-
3Gain-
KBTBD4-
-
-
-
3Gain-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA4-
-
-
-
3Gain-
KCNA7-
-
-
-
3Gain-
KCNAB1-
-
-
-
3Gain-
KCNAB2-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
1Loss-
KCNB2-
-
-
-
5Amp-
KCNC1-
-
-
-
3Gain-
KCNC3-
-
-
-
3Gain-
KCNC4-
-
-
-
1Loss-
KCND2-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE3-
-
-
-
3Gain-
KCNG1-
-
-
-
1Loss-
KCNG2-
-
-
-
3Gain-
KCNH1-
-
-
-
3Gain-
KCNH2-
-
-
-
1Loss-
KCNH5-
-
-
-
3Gain-
KCNH7p.R688P
Missense
SNP
0.684
2--
KCNH8p.G646V
Missense
SNP
1.000
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ4-
-
-
-
3Gain-
KCNJ5-
-
-
-
3Gain-
KCNJ6-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
3Gain-
KCNK13-
-
-
-
3Gain-
KCNK15-
-
-
-
1Loss-
KCNK2-
-
-
-
3Gain-
KCNK4-
-
-
-
3Gain-
KCNK7-
-
-
-
3Gain-
KCNK9-
-
-
-
4Gain-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
5Amp-
KCNMB3-
-
-
-
5Amp-
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNQ2-
-
-
-
1Loss-
KCNQ3-
-
-
-
4Gain-
KCNQ4-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNS1-
-
-
-
1Loss-
KCNS2-
-
-
-
5Amp-
KCNT2p.K128N
Missense
SNP
0.556
3Gain-
KCNU1-
-
-
-
1Loss-
KCNV1p.Q186K
Missense
SNP
0.368
5Amp-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
1Loss-
KCTD1-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD14-
-
-
-
3Gain-
KCTD15-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
3Gain-
KCTD21-
-
-
-
3Gain-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD7-
-
-
-
3Gain-
KCTD8-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM2A-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM4A-
-
-
-
1Loss-
KDM4Bp.G301R
Missense
SNP
0.648
2--
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
3Gain-
KDM4E-
-
-
-
3Gain-
KDM4F-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
1Loss-
KDRp.Q1170H
Missense
SNP
1.000
1Loss-
KDSR-
-
-
-
5Amp-
KEL-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS1-
-
-
-
1Loss-
KHDRBS3-
-
-
-
4Gain-
KHNYN-
-
-
-
3Gain-
KHSRPp.P397S
Missense
SNP
0.266
2--
KIAA0232-
-
-
-
1Loss-
KIAA0319L-
-
-
-
1Loss-
KIAA0355-
-
-
-
1Loss-
KIAA0391-
-
-
-
3Gain-
KIAA0408p.W621Gfs*6
Frame_Shift_Del
DEL
0.643
2--
KIAA0586-
-
-
-
3Gain-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0930-
-
-
-
3Gain-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1147-
-
-
-
1Loss-
KIAA1191-
-
-
-
1Loss-
KIAA1210p.R1295M
Missense
SNP
0.394
NDND-
KIAA1211-
-
-
-
1Loss-
KIAA1257-
-
-
-
5Amp-
KIAA1324-
-
-
-
1Loss-
KIAA1324L-
-
-
-
1Loss-
KIAA1328-
-
-
-
3Gain-
KIAA1522-
-
-
-
1Loss-
KIAA1549-
-
-
-
1Loss-
KIAA1549L-
-
-
-
3Gain-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
3Gain-
KIAA1755-
-
-
-
1Loss-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF18A-
-
-
-
3Gain-
KIF1B-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
1Loss-
KIF24-
-
-
-
8Amp-
KIF26A-
-
-
-
3Gain-
KIF27-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF2C-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3B-
-
-
-
3Gain-
KIF4B-
-
-
-
1Loss-
KIF6p.K777R
Missense
SNP
0.519
2--
KIF7-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC2-
-
-
-
4Gain-
KIR2DL1-
-
-
-
3Gain-
KIR2DL3-
-
-
-
3Gain-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1-
-
-
-
3Gain-
KIR3DL3-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KIT-
-
-
-
1Loss-
KIZ-
-
-
-
3Gain-
KL-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLC1-
-
-
-
3Gain-
KLC2-
-
-
-
3Gain-
KLF10-
-
-
-
5Amp-
KLF12-
-
-
-
1Loss-
KLF14-
-
-
-
1Loss-
KLF15-
-
-
-
1Loss-
KLF17-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF4-
-
-
-
3Gain-
KLF5-
-
-
-
1Loss-
KLF9-
-
-
-
3Gain-
KLHDC1-
-
-
-
3Gain-
KLHDC10-
-
-
-
1Loss-
KLHDC2-
-
-
-
3Gain-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
3Gain-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL12-
-
-
-
3Gain-
KLHL14-
-
-
-
6Amp-
KLHL17-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL2-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
1Loss-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
6Amp-
KLHL25-
-
-
-
1Loss-
KLHL28-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL32p.E266*
Nonsense
SNP
0.590
2--
KLHL33-
-
-
-
3Gain-
KLHL35-
-
-
-
3Gain-
KLHL38-
-
-
-
5Amp-
KLHL4p.C639S
Missense
SNP
0.446
NDND-
KLHL40-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL6-
-
-
-
6Amp-
KLHL7-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLRB1p.C189R
Missense
SNP
0.750
2--
KLRG2-
-
-
-
1Loss-
KMT2A-
-
-
-
3Gain-
KMT2B-
-
-
-
1Loss-
KMT2C-
-
-
-
1Loss-
KMT2E-
-
-
-
1Loss-
KMT5B-
-
-
-
3Gain-
KNCN-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KPNA1-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
3Gain-
KPNA6-
-
-
-
1Loss-
KPNA7-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRBA1-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KREMEN1-
-
-
-
3Gain-
KRIT1-
-
-
-
1Loss-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP12-1-
-
-
-
1Loss-
KRTAP12-2-
-
-
-
1Loss-
KRTAP12-3-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-6-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP20-4-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2p.S16I
Missense
SNP
1.000
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
3Gain-
KRTAP5-11-
-
-
-
3Gain-
KRTAP5-7-
-
-
-
3Gain-
KRTAP5-8-
-
-
-
3Gain-
KRTAP5-9-
-
-
-
3Gain-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP6-3-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTAP9-7p.T23I
Missense
SNP
0.241
2--
KRTAP9-9p.L123M
Missense
SNP
0.544
2--
KRTCAP2-
-
-
-
3Gain-
KRTDAP-
-
-
-
1Loss-
KTI12-
-
-
-
1Loss-
KTN1-
-
-
-
3Gain-
KY-
-
-
-
5Amp-
KYAT3-
-
-
-
1Loss-
L1TD1-
-
-
-
1Loss-
L2HGDH-
-
-
-
3Gain-
L3HYPDH-
-
-
-
3Gain-
L3MBTL1-
-
-
-
1Loss-
L3MBTL2-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LACTB-
-
-
-
3Gain-
LACTB2-
-
-
-
5Amp-
LACTBL1-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAIR1-
-
-
-
3Gain-
LAIR2-
-
-
-
3Gain-
LAMA3p.F2734V
Missense
SNP
0.245
3Gain-
LAMA5-
-
-
-
1Loss-
LAMB1-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
1Loss-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
6Amp-
LAMP5-
-
-
-
3Gain-
LAMTOR1-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAMTOR4-
-
-
-
1Loss-
LAMTOR5-
-
-
-
1Loss-
LANCL2-
-
-
-
3Gain-
LAP3-
-
-
-
1Loss-
LAPTM4B-
-
-
-
5Amp-
LAPTM5-
-
-
-
1Loss-
LARGE1-
-
-
-
3Gain-
LARGE2-
-
-
-
3Gain-
LARP1-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LATS2-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LAYN-
-
-
-
3Gain-
LBHD1-
-
-
-
3Gain-
LBP-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
LBX1p.A178S
Missense
SNP
0.720
2--
LCA5L-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCK-
-
-
-
1Loss-
LCORLp.R1732S
Missense
SNP
1.000
1Loss-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LCTL-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3p.T92R
Missense
SNP
0.641
2--
LDHA-
-
-
-
3Gain-
LDHAL6A-
-
-
-
3Gain-
LDHAL6B-
-
-
-
3Gain-
LDHC-
-
-
-
3Gain-
LDLRAD1-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAD3-
-
-
-
3Gain-
LDLRAD4-
-
-
-
5Amp-
LDLRAP1-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEKR1-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LENG1-
-
-
-
3Gain-
LENG8-
-
-
-
3Gain-
LENG9-
-
-
-
3Gain-
LEPp.S148R
Missense
SNP
1.000
1Loss-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LEXM-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
3Gain-
LGALS12-
-
-
-
3Gain-
LGALS2-
-
-
-
3Gain-
LGALS3-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGI4-
-
-
-
1Loss-
LGMN-
-
-
-
3Gain-
LGR4-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LHB-
-
-
-
3Gain-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHPPp.G10C
Missense
SNP
0.303
2--
LHX4-
-
-
-
3Gain-
LHX8-
-
-
-
1Loss-
LHX9-
-
-
-
3Gain-
LIAS-
-
-
-
1Loss-
LIF-
-
-
-
3Gain-
LIFR-
-
-
-
4Gain-
LIG1p.A321S
Missense
SNP
0.333
2--
LIG4-
-
-
-
1Loss-
LILRA1-
-
-
-
3Gain-
LILRA2-
-
-
-
3Gain-
LILRA4p.S135*
Nonsense
SNP
0.097
3Gain-
LILRA5-
-
-
-
3Gain-
LILRA6-
-
-
-
3Gain-
LILRB1-
-
-
-
3Gain-
LILRB2-
-
-
-
3Gain-
LILRB3-
-
-
-
3Gain-
LILRB4-
-
-
-
3Gain-
LILRB5-
-
-
-
3Gain-
LIMCH1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIME1-
-
-
-
1Loss-
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
3Gain-
LIN28A-
-
-
-
1Loss-
LIN37-
-
-
-
1Loss-
LIN52-
-
-
-
3Gain-
LIN54-
-
-
-
1Loss-
LIN7B-
-
-
-
3Gain-
LIN7C-
-
-
-
3Gain-
LIN9-
-
-
-
3Gain-
LINGO1-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPI-
-
-
-
1Loss-
LIPT2-
-
-
-
3Gain-
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
1Loss-
LLCFC1-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMBR1-
-
-
-
1Loss-
LMBRD2-
-
-
-
4Gain-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
3Gain-
LMLN-
-
-
-
1Loss-
LMLN2-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMO1-
-
-
-
3Gain-
LMO2-
-
-
-
3Gain-
LMO4-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMTK2-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNP1-
-
-
-
1Loss-
LNPEP-
-
-
-
1Loss-
LNX1-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT1-
-
-
-
4Gain-
LPGAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LPP-
-
-
-
3Gain-
LPXN-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRCH3-
-
-
-
1Loss-
LRCH4-
-
-
-
1Loss-
LRFN4-
-
-
-
3Gain-
LRFN5-
-
-
-
3Gain-
LRGUK-
-
-
-
1Loss-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRP10-
-
-
-
3Gain-
LRP12-
-
-
-
5Amp-
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
1Loss-
LRP4-
-
-
-
3Gain-
LRP5-
-
-
-
3Gain-
LRP5L-
-
-
-
3Gain-
LRP8-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRR1-
-
-
-
3Gain-
LRRC10B-
-
-
-
3Gain-
LRRC14-
-
-
-
4Gain-
LRRC14B-
-
-
-
4Gain-
LRRC15-
-
-
-
1Loss-
LRRC17-
-
-
-
1Loss-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
4Gain-
LRRC26p.A195V
Missense
SNP
0.172
2--
LRRC28-
-
-
-
1Loss-
LRRC3-
-
-
-
1Loss-
LRRC31-
-
-
-
3Gain-
LRRC32-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC4-
-
-
-
1Loss-
LRRC40-
-
-
-
1Loss-
LRRC41-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC47-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC4B-
-
-
-
3Gain-
LRRC4C-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC53-
-
-
-
1Loss-
LRRC55-
-
-
-
3Gain-
LRRC58-
-
-
-
1Loss-
LRRC6-
-
-
-
4Gain-
LRRC61-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC66-
-
-
-
1Loss-
LRRC69-
-
-
-
5Amp-
LRRC7p.F152I
Missense
SNP
1.000
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC74A-
-
-
-
3Gain-
LRRC74B-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
3Gain-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRC9-
-
-
-
3Gain-
LRRCC1-
-
-
-
5Amp-
LRRD1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ1p.E1544Q
Missense
SNP
0.182
2--
LRRIQ3-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRK1-
-
-
-
1Loss-
LRRN1-
-
-
-
1Loss-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
1Loss-
LRRN4-
-
-
-
3Gain-
LRRN4CL-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LRTOMT-
-
-
-
3Gain-
LRWD1-
-
-
-
1Loss-
LSAMP-
-
-
-
1Loss-
LSG1-
-
-
-
1Loss-
LSM10-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM14A-
-
-
-
1Loss-
LSM14B-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSR-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LTB4R-
-
-
-
3Gain-
LTB4R2-
-
-
-
3Gain-
LTBP2-
-
-
-
3Gain-
LTBP3-
-
-
-
3Gain-
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LTO1-
-
-
-
3Gain-
LUC7L2-
-
-
-
1Loss-
LURAP1-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP1-
-
-
-
1Loss-
LUZP2-
-
-
-
3Gain-
LUZP6-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LY6D-
-
-
-
4Gain-
LY6E-
-
-
-
4Gain-
LY6H-
-
-
-
4Gain-
LY6K-
-
-
-
4Gain-
LY6L-
-
-
-
4Gain-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
5Amp-
LYAR-
-
-
-
1Loss-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
4Gain-
LYNX1-SLURP2-
-
-
-
4Gain-
LYPD2-
-
-
-
4Gain-
LYPLA1-
-
-
-
3Gain-
LYPLA2-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYRM7-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LYVE1-
-
-
-
3Gain-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
3Gain-
LZTS1-
-
-
-
1Loss-
LZTS3-
-
-
-
3Gain-
MAATS1-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MAB21L3-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACF1-
-
-
-
1Loss-
MACO1-
-
-
-
1Loss-
MACROD1-
-
-
-
3Gain-
MACROD2-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
1Loss-
MADD-
-
-
-
3Gain-
MAEA-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
4Gain-
MAFA-
-
-
-
4Gain-
MAFB-
-
-
-
1Loss-
MAFF-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAG-
-
-
-
1Loss-
MAGEB5p.R83*
Nonsense
SNP
1.000
NDND-
MAGEB6p.R3L
Missense
SNP
1.000
NDND-
MAGEC3p.L549V
Missense
SNP
0.250
NDND-
MAGEF1-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGI2-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAGOH-
-
-
-
1Loss-
MAJIN-
-
-
-
3Gain-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
5Amp-
MALSU1-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
3Gain-
MAML1-
-
-
-
1Loss-
MAML2-
-
-
-
3Gain-
MAML3-
-
-
-
1Loss-
MAN1A2-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANBAL-
-
-
-
1Loss-
MANEAL-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1B-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
1Loss-
MAP2K1-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K11-
-
-
-
3Gain-
MAP3K13-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K6-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP3K9-
-
-
-
3Gain-
MAP4-
-
-
-
1Loss-
MAP4K2-
-
-
-
3Gain-
MAP4K5-
-
-
-
3Gain-
MAP6-
-
-
-
3Gain-
MAP6D1-
-
-
-
6Amp-
MAP7D1-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK15-
-
-
-
4Gain-
MAPK1IP1L-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
3Gain-
MAPK8IP2-
-
-
-
3Gain-
MAPK9-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH1-
-
-
-
1Loss-
MARCH11-
-
-
-
4Gain-
MARCH3-
-
-
-
1Loss-
MARCH6-
-
-
-
4Gain-
MARCH8-
-
-
-
1Loss-
MARCKSL1-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK2-
-
-
-
3Gain-
MARK3-
-
-
-
3Gain-
MARVELD2-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MASP2-
-
-
-
1Loss-
MAST2-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN1-
-
-
-
1Loss-
MATN2-
-
-
-
5Amp-
MATN4-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MAVS-
-
-
-
3Gain-
MAX-
-
-
-
3Gain-
MB-
-
-
-
3Gain-
MB21D2-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD4-
-
-
-
5Amp-
MBIP-
-
-
-
3Gain-
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBOAT7-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MC2R-
-
-
-
5Amp-
MC3R-
-
-
-
1Loss-
MC4R-
-
-
-
4Gain-
MC5R-
-
-
-
5Amp-
MCAM-
-
-
-
3Gain-
MCAT-
-
-
-
3Gain-
MCC-
-
-
-
1Loss-
MCCC1-
-
-
-
6Amp-
MCCC2-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCF2L2-
-
-
-
6Amp-
MCHR1-
-
-
-
3Gain-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM2-
-
-
-
5Amp-
MCM3AP-
-
-
-
1Loss-
MCM4-
-
-
-
3Gain-
MCM5-
-
-
-
3Gain-
MCM7-
-
-
-
1Loss-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
5Amp-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCUB-
-
-
-
1Loss-
MDFIC-
-
-
-
1Loss-
MDGA2-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDK-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MDP1-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
ME3-
-
-
-
3Gain-
MEAF6-
-
-
-
1Loss-
MECOM-
-
-
-
3Gain-
MECR-
-
-
-
1Loss-
MED10-
-
-
-
4Gain-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED17-
-
-
-
3Gain-
MED18-
-
-
-
1Loss-
MED19-
-
-
-
3Gain-
MED25-
-
-
-
3Gain-
MED28-
-
-
-
1Loss-
MED30-
-
-
-
5Amp-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED6-
-
-
-
3Gain-
MED7-
-
-
-
1Loss-
MED8-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEF2A-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
3Gain-
MEGF6-
-
-
-
1Loss-
MEI1-
-
-
-
3Gain-
MELK-
-
-
-
8Amp-
MELTF-
-
-
-
1Loss-
MEN1-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
6Amp-
MEPCE-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
3Gain-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
1Loss-
METTL3-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN1-
-
-
-
5Amp-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
3Gain-
MFRP-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD2A-
-
-
-
1Loss-
MFSD3-
-
-
-
4Gain-
MFSD4A-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MGAM-
-
-
-
1Loss-
MGAM2-
-
-
-
1Loss-
MGARP-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT2-
-
-
-
3Gain-
MGAT3-
-
-
-
3Gain-
MGAT4B-
-
-
-
1Loss-
MGAT4D-
-
-
-
1Loss-
MGLL-
-
-
-
5Amp-
MGME1-
-
-
-
3Gain-
MGST2-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA2-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MIB2-
-
-
-
1Loss-
MICAL2-
-
-
-
3Gain-
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIEF1-
-
-
-
3Gain-
MIEF2-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIF-
-
-
-
3Gain-
MIGA1-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MIPEP-
-
-
-
1Loss-
MIPOL1-
-
-
-
3Gain-
MIR1199p.P109R
Missense
SNP
0.361
NDND-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MIS18BP1-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKKS-
-
-
-
3Gain-
MKL2p.M910L
Missense
SNP
0.649
NDND-
MKLN1-
-
-
-
1Loss-
MKNK1-
-
-
-
1Loss-
MKRN1-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLC1-
-
-
-
3Gain-
MLF1-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MMAA-
-
-
-
1Loss-
MMACHC-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMEp.E449*
Nonsense
SNP
0.542
3Gain-
MMEL1-
-
-
-
1Loss-
MMP1-
-
-
-
3Gain-
MMP10-
-
-
-
3Gain-
MMP11-
-
-
-
3Gain-
MMP12-
-
-
-
3Gain-
MMP13-
-
-
-
3Gain-
MMP14-
-
-
-
3Gain-
MMP16-
-
-
-
5Amp-
MMP20-
-
-
-
3Gain-
MMP23B-
-
-
-
1Loss-
MMP24-
-
-
-
1Loss-
MMP27-
-
-
-
3Gain-
MMP3-
-
-
-
3Gain-
MMP7-
-
-
-
3Gain-
MMP8-
-
-
-
3Gain-
MMP9-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MN1-
-
-
-
3Gain-
MNAT1-
-
-
-
3Gain-
MND1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
1Loss-
MOAP1-
-
-
-
3Gain-
MOB1B-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOB3C-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
3Gain-
MOCS2-
-
-
-
1Loss-
MOCS3-
-
-
-
1Loss-
MOGAT2-
-
-
-
3Gain-
MOGAT3-
-
-
-
1Loss-
MOK-
-
-
-
3Gain-
MON1A-
-
-
-
1Loss-
MORC1p.M645V
Missense
SNP
0.571
1Loss-
MORC2-
-
-
-
3Gain-
MORC3-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOSPD3-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MOV10L1-
-
-
-
3Gain-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPEG1-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPL-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPP5-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPPE1-
-
-
-
5Amp-
MPPED1-
-
-
-
3Gain-
MPPED2-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
3Gain-
MPZL3-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRE11-
-
-
-
3Gain-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
1Loss-
MRGPRD-
-
-
-
3Gain-
MRGPRF-
-
-
-
3Gain-
MRGPRX1-
-
-
-
3Gain-
MRGPRX2-
-
-
-
3Gain-
MRGPRX3-
-
-
-
3Gain-
MRGPRX4-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
4Gain-
MROH2B-
-
-
-
4Gain-
MROH5-
-
-
-
4Gain-
MROH6-
-
-
-
4Gain-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MROH8-
-
-
-
1Loss-
MROH9-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
3Gain-
MRPL13-
-
-
-
5Amp-
MRPL15-
-
-
-
3Gain-
MRPL16-
-
-
-
3Gain-
MRPL17-
-
-
-
3Gain-
MRPL20-
-
-
-
1Loss-
MRPL21-
-
-
-
3Gain-
MRPL22-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL3-
-
-
-
5Amp-
MRPL32-
-
-
-
3Gain-
MRPL36-
-
-
-
4Gain-
MRPL37-
-
-
-
1Loss-
MRPL39-
-
-
-
1Loss-
MRPL40-
-
-
-
3Gain-
MRPL46-
-
-
-
1Loss-
MRPL47-
-
-
-
5Amp-
MRPL48-
-
-
-
3Gain-
MRPL49-
-
-
-
3Gain-
MRPL50-
-
-
-
3Gain-
MRPL52-
-
-
-
3Gain-
MRPL53p.A6S
Missense
SNP
0.351
2--
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS14-
-
-
-
3Gain-
MRPS15-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS18B-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS28-
-
-
-
5Amp-
MRPS30-
-
-
-
4Gain-
MRPS31-
-
-
-
1Loss-
MRPS33-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRTFA-
-
-
-
3Gain-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
3Gain-
MS4A1-
-
-
-
3Gain-
MS4A10-
-
-
-
3Gain-
MS4A12-
-
-
-
3Gain-
MS4A13-
-
-
-
3Gain-
MS4A14-
-
-
-
3Gain-
MS4A15-
-
-
-
3Gain-
MS4A18-
-
-
-
3Gain-
MS4A2-
-
-
-
3Gain-
MS4A3-
-
-
-
3Gain-
MS4A4A-
-
-
-
3Gain-
MS4A4Ep.S89Qfs*2
Frame_Shift_Del
DEL
0.397
3Gain-
MS4A5-
-
-
-
3Gain-
MS4A6A-
-
-
-
3Gain-
MS4A6E-
-
-
-
3Gain-
MS4A7-
-
-
-
3Gain-
MS4A8-
-
-
-
3Gain-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
3Gain-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSANTD4-
-
-
-
3Gain-
MSC-
-
-
-
5Amp-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSL2-
-
-
-
5Amp-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSMP-
-
-
-
8Amp-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MSX2-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MTA1-
-
-
-
3Gain-
MTA2-
-
-
-
3Gain-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
5Amp-
MTCH2-
-
-
-
3Gain-
MTDH-
-
-
-
5Amp-
MTERF1-
-
-
-
1Loss-
MTERF3-
-
-
-
5Amp-
MTF1-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFMT-
-
-
-
3Gain-
MTFP1-
-
-
-
3Gain-
MTFR1-
-
-
-
5Amp-
MTFR1L-
-
-
-
1Loss-
MTG2-
-
-
-
1Loss-
MTHFD1-
-
-
-
3Gain-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR12-
-
-
-
4Gain-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
3Gain-
MTMR3-
-
-
-
3Gain-
MTMR6-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
3Gain-
MTOR-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTRR-
-
-
-
4Gain-
MTSS1-
-
-
-
4Gain-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MTUS2p.N452Y
Missense
SNP
0.629
1Loss-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC12-
-
-
-
1Loss-
MUC13-
-
-
-
1Loss-
MUC15-
-
-
-
3Gain-
MUC17-
-
-
-
1Loss-
MUC20-
-
-
-
1Loss-
MUC22p.S1606L
Missense
SNP
0.348
2--
MUC3A-
-
-
-
1Loss-
MUC4-
-
-
-
1Loss-
MUC5ACp.I3259N
Missense
SNP
0.296
2--
MUC7-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUS81-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MUTYH-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXRA8-
-
-
-
1Loss-
MYADM-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
5Amp-
MYBL2-
-
-
-
1Loss-
MYBPC2-
-
-
-
3Gain-
MYBPC3p.R44S
Missense
SNP
0.450
3Gain-
MYBPH-
-
-
-
3Gain-
MYBPHL-
-
-
-
1Loss-
MYC-
-
-
-
4Gain-
MYCBP-
-
-
-
1Loss-
MYCBP2-
-
-
-
1Loss-
MYCL-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYEOV-
-
-
-
3Gain-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH14-
-
-
-
3Gain-
MYH15-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
3Gain-
MYH7-
-
-
-
3Gain-
MYH7B-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
3Gain-
MYL10-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL5-
-
-
-
1Loss-
MYL7-
-
-
-
3Gain-
MYL9-
-
-
-
1Loss-
MYLK-
-
-
-
1Loss-
MYLK2-
-
-
-
3Gain-
MYNN-
-
-
-
3Gain-
MYO10-
-
-
-
4Gain-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO18B-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1G-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO7A-
-
-
-
3Gain-
MYO9A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
3Gain-
MYOFp.A614Cfs*12
Frame_Shift_Ins
INS
0.433
2--
MYOG-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYOM3-
-
-
-
1Loss-
MYORG-
-
-
-
8Amp-
MYOT-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYRF-
-
-
-
3Gain-
MYRIP-
-
-
-
1Loss-
MYSM1-
-
-
-
1Loss-
MYT1-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA20-
-
-
-
3Gain-
NAA30-
-
-
-
3Gain-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
3Gain-
NAA50-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2p.I358F
Missense
SNP
0.417
3Gain-
NAALADL1-
-
-
-
3Gain-
NAALADL2-
-
-
-
7Amp-
NACA2p.K68N
Missense
SNP
0.403
2--
NACAD-
-
-
-
3Gain-
NADK-
-
-
-
1Loss-
NADK2-
-
-
-
4Gain-
NADSYN1-
-
-
-
3Gain-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NAMPT-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPEPLD-
-
-
-
1Loss-
NAPRT-
-
-
-
4Gain-
NAPSA-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
3Gain-
NASP-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT10-
-
-
-
3Gain-
NAT16-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAV2-
-
-
-
3Gain-
NAXD-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBN-
-
-
-
5Amp-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6p.X475_splice
Splice_Site
SNP
1.000
1Loss-
NBPF9-
-
-
-
3Gain-
NCALD-
-
-
-
5Amp-
NCAM1p.E501*
Nonsense
SNP
0.568
3Gain-
NCAM2-
-
-
-
1Loss-
NCAPD3-
-
-
-
3Gain-
NCAPG-
-
-
-
1Loss-
NCAPG2-
-
-
-
1Loss-
NCAPH2-
-
-
-
3Gain-
NCBP1-
-
-
-
3Gain-
NCBP2-
-
-
-
1Loss-
NCBP2-AS2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCDN-
-
-
-
1Loss-
NCEH1-
-
-
-
7Amp-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCK1-
-
-
-
5Amp-
NCKIPSD-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA2p.Y1384C
p.S951F
Missense
Missense
SNP
SNP
0.633
0.296
5Amp-
NCOA3-
-
-
-
1Loss-
NCOA4-
-
-
-
1Loss-
NCOA5-
-
-
-
1Loss-
NCOA6-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDC1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDNF-
-
-
-
1Loss-
NDRG1-
-
-
-
4Gain-
NDRG2-
-
-
-
3Gain-
NDRG3-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
3Gain-
NDUFA5-
-
-
-
1Loss-
NDUFA6-
-
-
-
3Gain-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
5Amp-
NDUFB1-
-
-
-
3Gain-
NDUFB2-
-
-
-
1Loss-
NDUFB4-
-
-
-
1Loss-
NDUFB5-
-
-
-
5Amp-
NDUFB6-
-
-
-
6Amp-
NDUFB9-
-
-
-
4Gain-
NDUFC1-
-
-
-
1Loss-
NDUFC2-
-
-
-
3Gain-
NDUFC2-KCTD14-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NDUFS3-
-
-
-
3Gain-
NDUFS4-
-
-
-
1Loss-
NDUFS5-
-
-
-
1Loss-
NDUFS6-
-
-
-
4Gain-
NDUFS8-
-
-
-
3Gain-
NDUFV1-
-
-
-
3Gain-
NDUFV3-
-
-
-
1Loss-
NECAB1-
-
-
-
5Amp-
NECAB3-
-
-
-
3Gain-
NECAP2-
-
-
-
1Loss-
NECTIN1-
-
-
-
3Gain-
NECTIN3-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
3Gain-
NEDD8-MDP1-
-
-
-
3Gain-
NEFH-
-
-
-
3Gain-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEGR1-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
5Amp-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NEK9-
-
-
-
3Gain-
NELFA-
-
-
-
1Loss-
NELFCD-
-
-
-
1Loss-
NELL1-
-
-
-
3Gain-
NEMF-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NEPRO-
-
-
-
1Loss-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
3Gain-
NEU3-
-
-
-
3Gain-
NEURL1B-
-
-
-
1Loss-
NEURL2-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NEUROG3p.A105T
Missense
SNP
0.650
2--
NEXN-
-
-
-
1Loss-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFASC-
-
-
-
3Gain-
NFATC1-
-
-
-
3Gain-
NFATC2-
-
-
-
1Loss-
NFATC4-
-
-
-
3Gain-
NFE2L2p.G31A
Missense
SNP
0.636
2--
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
1Loss-
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIL3-
-
-
-
3Gain-
NFKB1-
-
-
-
1Loss-
NFKBIA-
-
-
-
3Gain-
NFKBIZ-
-
-
-
1Loss-
NFRKB-
-
-
-
3Gain-
NFS1-
-
-
-
1Loss-
NFX1-
-
-
-
6Amp-
NFXL1-
-
-
-
1Loss-
NFYC-
-
-
-
1Loss-
NGB-
-
-
-
3Gain-
NGDN-
-
-
-
3Gain-
NGF-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHLH2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NID2-
-
-
-
3Gain-
NIM1K-
-
-
-
4Gain-
NIN-
-
-
-
3Gain-
NINJ1-
-
-
-
3Gain-
NINL-
-
-
-
3Gain-
NIPAL1-
-
-
-
1Loss-
NIPAL2-
-
-
-
5Amp-
NIPAL3-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPBLp.T359P
Missense
SNP
0.344
4Gain-
NIPSNAP1p.X123_splice
Splice_Site
SNP
0.247
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NIT2-
-
-
-
1Loss-
NKAIN1-
-
-
-
1Loss-
NKAIN2p.E129*
Nonsense
SNP
0.439
2--
NKAIN3-
-
-
-
5Amp-
NKAIN4-
-
-
-
1Loss-
NKAPD1-
-
-
-
3Gain-
NKD2-
-
-
-
4Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX2-1-
-
-
-
3Gain-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
3Gain-
NKX3-1-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN1-
-
-
-
7Amp-
NLGN2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
3Gain-
NLRP12-
-
-
-
3Gain-
NLRP14-
-
-
-
3Gain-
NLRP5p.X148_splice
Splice_Site
SNP
0.414
2--
NLRX1-
-
-
-
3Gain-
NMB-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT1-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRK1-
-
-
-
3Gain-
NMU-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNAT-
-
-
-
1Loss-
NNMT-
-
-
-
3Gain-
NNT-
-
-
-
4Gain-
NOA1-
-
-
-
1Loss-
NOBOX-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NOL12-
-
-
-
3Gain-
NOL4-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL6-
-
-
-
6Amp-
NOL8-
-
-
-
3Gain-
NOL9-
-
-
-
1Loss-
NOM1-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOP9-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOS3-
-
-
-
1Loss-
NOSIP-
-
-
-
3Gain-
NOTCH2-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH4p.C1596*
Nonsense
MNP
0.358
2--
NOV-
-
-
-
5Amp-
NOVA1-
-
-
-
3Gain-
NOX4-
-
-
-
3Gain-
NOX5-
-
-
-
1Loss-
NOXRED1-
-
-
-
3Gain-
NPAS3-
-
-
-
3Gain-
NPAS4-
-
-
-
3Gain-
NPAT-
-
-
-
3Gain-
NPBWR1-
-
-
-
3Gain-
NPBWR2-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPC2-
-
-
-
3Gain-
NPEPL1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHP3-
-
-
-
5Amp-
NPHP3-ACAD11-
-
-
-
5Amp-
NPHP4-
-
-
-
1Loss-
NPHS1-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPIPB15p.A394T
Missense
SNP
0.217
2--
NPL-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
8Amp-
NPR3-
-
-
-
4Gain-
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
1Loss-
NPTX2-
-
-
-
1Loss-
NPTXR-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
3Gain-
NR1H3-
-
-
-
3Gain-
NR1I2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C1p.A120Hfs*9
Frame_Shift_Del
DEL
0.650
2--
NR2C2-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRAS-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP2-
-
-
-
4Gain-
NRCAM-
-
-
-
1Loss-
NRDC-
-
-
-
1Loss-
NRDE2-
-
-
-
3Gain-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRG1-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRGN-
-
-
-
3Gain-
NRIP1-
-
-
-
1Loss-
NRIP3-
-
-
-
3Gain-
NRL-
-
-
-
3Gain-
NRROS-
-
-
-
1Loss-
NRSN2-
-
-
-
3Gain-
NRXN2-
-
-
-
3Gain-
NRXN3-
-
-
-
3Gain-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSG1-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMAF-
-
-
-
5Amp-
NSMCE2-
-
-
-
4Gain-
NSUN2-
-
-
-
4Gain-
NSUN3-
-
-
-
3Gain-
NSUN4-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C1A-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTF4-
-
-
-
3Gain-
NTM-
-
-
-
3Gain-
NTN1-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK2-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTSR1-
-
-
-
1Loss-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
1Loss-
NUBPL-
-
-
-
3Gain-
NUCB1-
-
-
-
3Gain-
NUCB2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDC-
-
-
-
1Loss-
NUDCD1-
-
-
-
5Amp-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT14-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
5Amp-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT19-
-
-
-
1Loss-
NUDT2-
-
-
-
8Amp-
NUDT22-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT6-
-
-
-
1Loss-
NUDT8-
-
-
-
3Gain-
NUDT9-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUMA1-
-
-
-
3Gain-
NUMB-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
4Gain-
NUP160-
-
-
-
3Gain-
NUP205-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP50-
-
-
-
3Gain-
NUP54-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP62-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NWD2-
-
-
-
1Loss-
NXF1-
-
-
-
3Gain-
NXN-
-
-
-
1Loss-
NXNL2-
-
-
-
3Gain-
NXPE1-
-
-
-
3Gain-
NXPE2-
-
-
-
3Gain-
NXPE3-
-
-
-
1Loss-
NXPE4-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXT1-
-
-
-
3Gain-
NYAP1-
-
-
-
1Loss-
NYNRIN-
-
-
-
3Gain-
OAF-
-
-
-
3Gain-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OC90-
-
-
-
4Gain-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
1Loss-
OCSTAMP-
-
-
-
1Loss-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF1-
-
-
-
5Amp-
ODF2L-
-
-
-
1Loss-
ODF3B-
-
-
-
3Gain-
ODF3L1-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGDHL-
-
-
-
1Loss-
OGFR-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OGN-
-
-
-
3Gain-
OLFM3-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OMA1-
-
-
-
1Loss-
OMD-
-
-
-
3Gain-
OMP-
-
-
-
3Gain-
ONECUT2-
-
-
-
1Loss-
OOSP1-
-
-
-
3Gain-
OOSP2-
-
-
-
3Gain-
OPA1-
-
-
-
1Loss-
OPCML-
-
-
-
3Gain-
OPLAH-
-
-
-
4Gain-
OPN1SW-
-
-
-
1Loss-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
3Gain-
OPRL1-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OR10A2-
-
-
-
3Gain-
OR10A3-
-
-
-
3Gain-
OR10A4-
-
-
-
3Gain-
OR10A5-
-
-
-
3Gain-
OR10A6-
-
-
-
3Gain-
OR10AG1-
-
-
-
3Gain-
OR10D3-
-
-
-
3Gain-
OR10G2-
-
-
-
3Gain-
OR10G3-
-
-
-
3Gain-
OR10G4-
-
-
-
3Gain-
OR10G7-
-
-
-
3Gain-
OR10G8-
-
-
-
3Gain-
OR10G9-
-
-
-
3Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10Q1-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
3Gain-
OR10W1-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11G2-
-
-
-
3Gain-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR13A1-
-
-
-
1Loss-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13J1-
-
-
-
8Amp-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1S1-
-
-
-
3Gain-
OR1S2-
-
-
-
3Gain-
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2AE1-
-
-
-
1Loss-
OR2AG1-
-
-
-
3Gain-
OR2AG2-
-
-
-
3Gain-
OR2AT4-
-
-
-
3Gain-
OR2D2-
-
-
-
3Gain-
OR2D3-
-
-
-
3Gain-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
OR2G2p.S246F
Missense
SNP
0.241
2--
OR2M3p.C97F
Missense
SNP
0.716
2--
OR2S2-
-
-
-
8Amp-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A15-
-
-
-
3Gain-
OR4A16-
-
-
-
3Gain-
OR4A5p.M291I
Missense
SNP
0.500
3Gain-
OR4B1-
-
-
-
3Gain-
OR4C11-
-
-
-
3Gain-
OR4C15-
-
-
-
3Gain-
OR4C16-
-
-
-
3Gain-
OR4C3-
-
-
-
3Gain-
OR4C46-
-
-
-
3Gain-
OR4C6-
-
-
-
3Gain-
OR4D10-
-
-
-
3Gain-
OR4D11-
-
-
-
3Gain-
OR4D5-
-
-
-
3Gain-
OR4D6-
-
-
-
3Gain-
OR4D9-
-
-
-
3Gain-
OR4E2-
-
-
-
3Gain-
OR4F15-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4K1-
-
-
-
3Gain-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
3Gain-
OR4K17-
-
-
-
3Gain-
OR4K2p.P280H
Missense
SNP
0.298
3Gain-
OR4K5-
-
-
-
3Gain-
OR4L1-
-
-
-
3Gain-
OR4N2-
-
-
-
3Gain-
OR4N5-
-
-
-
3Gain-
OR4P4-
-
-
-
3Gain-
OR4Q2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR4S1-
-
-
-
3Gain-
OR4S2-
-
-
-
3Gain-
OR4X1-
-
-
-
3Gain-
OR4X2-
-
-
-
3Gain-
OR51B5p.T190A
Missense
SNP
0.367
2--
OR51F1p.G122V
Missense
SNP
0.357
2--
OR51J1p.N198D
Missense
SNP
0.393
NDND-
OR5A1-
-
-
-
3Gain-
OR5A2-
-
-
-
3Gain-
OR5AC2-
-
-
-
4Gain-
OR5AK2-
-
-
-
3Gain-
OR5AN1-
-
-
-
3Gain-
OR5AP2-
-
-
-
3Gain-
OR5AR1-
-
-
-
3Gain-
OR5AS1-
-
-
-
3Gain-
OR5AU1-
-
-
-
3Gain-
OR5B12-
-
-
-
3Gain-
OR5B17-
-
-
-
3Gain-
OR5B2-
-
-
-
3Gain-
OR5B21-
-
-
-
3Gain-
OR5B3-
-
-
-
3Gain-
OR5D13-
-
-
-
3Gain-
OR5D14-
-
-
-
3Gain-
OR5D16-
-
-
-
3Gain-
OR5D18-
-
-
-
3Gain-
OR5F1-
-
-
-
3Gain-
OR5H1-
-
-
-
4Gain-
OR5H14-
-
-
-
4Gain-
OR5H15-
-
-
-
4Gain-
OR5H2-
-
-
-
4Gain-
OR5H6-
-
-
-
4Gain-
OR5I1-
-
-
-
3Gain-
OR5J2-
-
-
-
3Gain-
OR5K1-
-
-
-
4Gain-
OR5K2-
-
-
-
4Gain-
OR5K3-
-
-
-
4Gain-
OR5K4-
-
-
-
4Gain-
OR5L1-
-
-
-
3Gain-
OR5L2-
-
-
-
3Gain-
OR5M1-
-
-
-
3Gain-
OR5M10-
-
-
-
3Gain-
OR5M11-
-
-
-
3Gain-
OR5M3-
-
-
-
3Gain-
OR5M8-
-
-
-
3Gain-
OR5M9-
-
-
-
3Gain-
OR5P2-
-
-
-
3Gain-
OR5P3-
-
-
-
3Gain-
OR5R1-
-
-
-
3Gain-
OR5T1-
-
-
-
3Gain-
OR5T2-
-
-
-
3Gain-
OR5T3-
-
-
-
3Gain-
OR5W2-
-
-
-
3Gain-
OR6A2-
-
-
-
3Gain-
OR6B1-
-
-
-
1Loss-
OR6C65p.H129Y
Missense
SNP
0.252
2--
OR6J1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Q1-
-
-
-
3Gain-
OR6S1-
-
-
-
3Gain-
OR6T1-
-
-
-
3Gain-
OR6V1-
-
-
-
1Loss-
OR6X1-
-
-
-
3Gain-
OR6Y1p.R239G
Missense
SNP
0.085
3Gain-
OR8A1-
-
-
-
3Gain-
OR8B12-
-
-
-
3Gain-
OR8B2-
-
-
-
3Gain-
OR8B3-
-
-
-
3Gain-
OR8B4-
-
-
-
3Gain-
OR8B8-
-
-
-
3Gain-
OR8D1-
-
-
-
3Gain-
OR8D2-
-
-
-
3Gain-
OR8D4-
-
-
-
3Gain-
OR8G1-
-
-
-
3Gain-
OR8G5-
-
-
-
3Gain-
OR8H1-
-
-
-
3Gain-
OR8H2-
-
-
-
3Gain-
OR8H3-
-
-
-
3Gain-
OR8I2-
-
-
-
3Gain-
OR8J1p.P129H
Missense
SNP
0.429
3Gain-
OR8J3-
-
-
-
3Gain-
OR8K1-
-
-
-
3Gain-
OR8K3-
-
-
-
3Gain-
OR8K5-
-
-
-
3Gain-
OR8U1-
-
-
-
3Gain-
OR9A2-
-
-
-
1Loss-
OR9A4-
-
-
-
1Loss-
OR9G1-
-
-
-
3Gain-
OR9G4-
-
-
-
3Gain-
OR9I1-
-
-
-
3Gain-
OR9Q1-
-
-
-
3Gain-
OR9Q2-
-
-
-
3Gain-
ORAI2-
-
-
-
1Loss-
ORC1-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
OSBP-
-
-
-
3Gain-
OSBP2-
-
-
-
3Gain-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
1Loss-
OSBPL1A-
-
-
-
3Gain-
OSBPL2-
-
-
-
1Loss-
OSBPL3-
-
-
-
3Gain-
OSBPL9-
-
-
-
1Loss-
OSCAR-
-
-
-
3Gain-
OSCP1-
-
-
-
1Loss-
OSER1-
-
-
-
1Loss-
OSGEP-
-
-
-
3Gain-
OSGIN2-
-
-
-
5Amp-
OSM-
-
-
-
3Gain-
OSMRp.Y306N
Missense
SNP
0.700
4Gain-
OSR2-
-
-
-
5Amp-
OSTC-
-
-
-
1Loss-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
1Loss-
OTOG-
-
-
-
3Gain-
OTOL1-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
3Gain-
OTUB2-
-
-
-
3Gain-
OTUD3-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD6B-
-
-
-
5Amp-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
4Gain-
OTULINL-
-
-
-
4Gain-
OTX2-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVCH1p.E580G
p.P568H
Missense
Missense
SNP
SNP
0.387
0.608
2--
OVCH2-
-
-
-
3Gain-
OVGP1-
-
-
-
1Loss-
OVOL1-
-
-
-
3Gain-
OVOL2-
-
-
-
3Gain-
OXA1L-
-
-
-
3Gain-
OXCT1-
-
-
-
4Gain-
OXCT2-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
5Amp-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
3Gain-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX3-
-
-
-
3Gain-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
3Gain-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P2RY2-
-
-
-
3Gain-
P2RY6-
-
-
-
3Gain-
P3H1-
-
-
-
1Loss-
P3H2-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HA3-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PAAF1-
-
-
-
3Gain-
PABPC1-
-
-
-
5Amp-
PABPC1L-
-
-
-
1Loss-
PABPC3-
-
-
-
1Loss-
PABPC4-
-
-
-
1Loss-
PABPC4L-
-
-
-
1Loss-
PABPN1-
-
-
-
3Gain-
PACRGL-
-
-
-
1Loss-
PACS1-
-
-
-
3Gain-
PACS2-
-
-
-
3Gain-
PACSIN2-
-
-
-
3Gain-
PACSIN3-
-
-
-
3Gain-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
3Gain-
PAFAH2-
-
-
-
1Loss-
PAG1-
-
-
-
5Amp-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
4Gain-
PAIP2-
-
-
-
1Loss-
PAK1-
-
-
-
3Gain-
PAK2-
-
-
-
1Loss-
PAK5-
-
-
-
3Gain-
PALLD-
-
-
-
1Loss-
PALMD-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAMR1-
-
-
-
3Gain-
PAN3-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANK3-
-
-
-
1Loss-
PANK4-
-
-
-
1Loss-
PANX1-
-
-
-
3Gain-
PANX2-
-
-
-
3Gain-
PANX3-
-
-
-
3Gain-
PAPLN-
-
-
-
3Gain-
PAPOLA-
-
-
-
3Gain-
PAPOLB-
-
-
-
3Gain-
PAPPA2-
-
-
-
3Gain-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
1Loss-
PAQR9-
-
-
-
5Amp-
PARD6B-
-
-
-
1Loss-
PARD6G-
-
-
-
3Gain-
PARG-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARL-
-
-
-
6Amp-
PARM1-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
4Gain-
PARP12-
-
-
-
1Loss-
PARP14-
-
-
-
1Loss-
PARP15-
-
-
-
1Loss-
PARP16-
-
-
-
3Gain-
PARP2-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PARP9-
-
-
-
1Loss-
PARS2-
-
-
-
1Loss-
PARVA-
-
-
-
3Gain-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PATE1-
-
-
-
3Gain-
PATE2-
-
-
-
3Gain-
PATE3-
-
-
-
3Gain-
PATE4-
-
-
-
3Gain-
PATJ-
-
-
-
1Loss-
PATL1-
-
-
-
3Gain-
PATZ1-
-
-
-
3Gain-
PAX1-
-
-
-
3Gain-
PAX4-
-
-
-
1Loss-
PAX5-
-
-
-
3Gain-
PAX6-
-
-
-
3Gain-
PAX7-
-
-
-
1Loss-
PAX9-
-
-
-
3Gain-
PAXBP1-
-
-
-
1Loss-
PAXIP1-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
3Gain-
PCBD2-
-
-
-
1Loss-
PCBP3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
5Amp-
PCDH1-
-
-
-
1Loss-
PCDH10-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH18-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCED1A-
-
-
-
3Gain-
PCF11-
-
-
-
3Gain-
PCGF3-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCIF1-
-
-
-
1Loss-
PCK1-
-
-
-
1Loss-
PCK2-
-
-
-
3Gain-
PCLAF-
-
-
-
3Gain-
PCLO-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
3Gain-
PCMTD2-
-
-
-
1Loss-
PCNA-
-
-
-
3Gain-
PCNP-
-
-
-
1Loss-
PCNT-
-
-
-
1Loss-
PCNX1-
-
-
-
3Gain-
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
3Gain-
PCNX4-
-
-
-
3Gain-
PCOLCE-
-
-
-
1Loss-
PCOLCE2-
-
-
-
5Amp-
PCP4-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCSK7-
-
-
-
3Gain-
PCSK9-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
1Loss-
PDAP1-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD2L-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6-
-
-
-
4Gain-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL2-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE1Ap.H232Q
Missense
SNP
0.435
2--
PDE1C-
-
-
-
3Gain-
PDE2A-
-
-
-
3Gain-
PDE3B-
-
-
-
3Gain-
PDE4Ap.M342I
Missense
SNP
0.600
2--
PDE4B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE5A-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE7A-
-
-
-
5Amp-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
3Gain-
PDGFC-
-
-
-
1Loss-
PDGFD-
-
-
-
3Gain-
PDGFRA-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
3Gain-
PDIA4-
-
-
-
1Loss-
PDIA5-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDK4-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP1-
-
-
-
5Amp-
PDPN-
-
-
-
1Loss-
PDRG1-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXK-
-
-
-
1Loss-
PDXP-
-
-
-
3Gain-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
4Gain-
PDZD3-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PEF1-
-
-
-
1Loss-
PEG10-
-
-
-
1Loss-
PELI2-
-
-
-
3Gain-
PELI3-
-
-
-
3Gain-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PEPD-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PES1-
-
-
-
3Gain-
PET117-
-
-
-
3Gain-
PEX1-
-
-
-
1Loss-
PEX10-
-
-
-
1Loss-
PEX11A-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX14-
-
-
-
1Loss-
PEX16-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
5Amp-
PEX26-
-
-
-
3Gain-
PEX5L-
-
-
-
5Amp-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
1Loss-
PFKFB2-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PFN3-
-
-
-
1Loss-
PGA3-
-
-
-
3Gain-
PGA4-
-
-
-
3Gain-
PGA5-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGF-
-
-
-
3Gain-
PGGT1B-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGM2L1-
-
-
-
3Gain-
PGM5-
-
-
-
3Gain-
PGPEP1L-
-
-
-
1Loss-
PGR-
-
-
-
3Gain-
PGRMC2-
-
-
-
1Loss-
PHACTR3-
-
-
-
1Loss-
PHACTR4-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHC2-
-
-
-
1Loss-
PHC3-
-
-
-
3Gain-
PHETA2-
-
-
-
3Gain-
PHF11-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHF14p.D249E
Missense
SNP
0.328
3Gain-
PHF2-
-
-
-
3Gain-
PHF20-
-
-
-
1Loss-
PHF20L1-
-
-
-
4Gain-
PHF21A-
-
-
-
3Gain-
PHF21B-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
8Amp-
PHF5A-
-
-
-
3Gain-
PHF7-
-
-
-
1Loss-
PHGDH-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHLDB1-
-
-
-
3Gain-
PHLDB2-
-
-
-
1Loss-
PHLPP1-
-
-
-
3Gain-
PHOX2A-
-
-
-
3Gain-
PHOX2B-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHTF2-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI15-
-
-
-
5Amp-
PI3-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PICALM-
-
-
-
3Gain-
PICK1-
-
-
-
3Gain-
PIF1-
-
-
-
3Gain-
PIFO-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
3Gain-
PIGK-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIGO-
-
-
-
8Amp-
PIGP-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGT-
-
-
-
1Loss-
PIGU-
-
-
-
1Loss-
PIGV-
-
-
-
1Loss-
PIGX-
-
-
-
1Loss-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
1Loss-
PIH1D1-
-
-
-
3Gain-
PIH1D2-
-
-
-
3Gain-
PIK3C2A-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PIK3C3-
-
-
-
6Amp-
PIK3CAp.E545K
Missense
SNP
0.662
5Amp-
PIK3CB-
-
-
-
3Gain-
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
1Loss-
PIK3IP1-
-
-
-
3Gain-
PIK3R1-
-
-
-
1Loss-
PIK3R3-
-
-
-
1Loss-
PIK3R4-
-
-
-
5Amp-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PILRA-
-
-
-
1Loss-
PILRB-
-
-
-
1Loss-
PIM3-
-
-
-
3Gain-
PIMREG-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
1Loss-
PIP4P1-
-
-
-
3Gain-
PIP4P2-
-
-
-
5Amp-
PIP5K1A-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
3Gain-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
3Gain-
PITPNM1-
-
-
-
3Gain-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL3-
-
-
-
3Gain-
PIWIL4-
-
-
-
3Gain-
PJA2-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD2-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDREJ-
-
-
-
3Gain-
PKHD1L1-
-
-
-
5Amp-
PKIA-
-
-
-
5Amp-
PKIG-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKN2-
-
-
-
1Loss-
PKNOX1-
-
-
-
1Loss-
PKNOX2-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PLA1A-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G16-
-
-
-
3Gain-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G3-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G5-
-
-
-
1Loss-
PLA2G6-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB3-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCG1-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCH2-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
1Loss-
PLCXD3-
-
-
-
4Gain-
PLD1-
-
-
-
7Amp-
PLD2-
-
-
-
1Loss-
PLD4-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
4Gain-
PLEK2-
-
-
-
3Gain-
PLEKHA2-
-
-
-
3Gain-
PLEKHA4-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA7-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHB1-
-
-
-
3Gain-
PLEKHD1p.F52L
Missense
SNP
0.677
3Gain-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
5Amp-
PLEKHG3-
-
-
-
3Gain-
PLEKHG4B-
-
-
-
4Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHH1-
-
-
-
3Gain-
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLET1-
-
-
-
3Gain-
PLGRKT-
-
-
-
1Loss-
PLIN1-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK3-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLOD3-
-
-
-
1Loss-
PLPBP-
-
-
-
3Gain-
PLPP1-
-
-
-
1Loss-
PLPP3-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR1-
-
-
-
3Gain-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLS1-
-
-
-
5Amp-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLTP-
-
-
-
1Loss-
PLXNA1-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
1Loss-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
3Gain-
PLXND1-
-
-
-
5Amp-
PM20D1-
-
-
-
3Gain-
PMAIP1-
-
-
-
4Gain-
PMEPA1-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PML-
-
-
-
1Loss-
PMM1-
-
-
-
3Gain-
PMP2-
-
-
-
5Amp-
PMP22-
-
-
-
1Loss-
PMPCB-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNKP-
-
-
-
3Gain-
PNMA1-
-
-
-
3Gain-
PNMA2-
-
-
-
1Loss-
PNN-
-
-
-
3Gain-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
3Gain-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNPLA8-
-
-
-
1Loss-
PNRC2-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODN-
-
-
-
1Loss-
PODXL-
-
-
-
1Loss-
PODXL2-
-
-
-
5Amp-
POFUT1-
-
-
-
3Gain-
POFUT2-
-
-
-
1Loss-
POGK-
-
-
-
3Gain-
POGLUT1-
-
-
-
1Loss-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD1-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLD3-
-
-
-
3Gain-
POLD4-
-
-
-
3Gain-
POLDIP3-
-
-
-
3Gain-
POLE2-
-
-
-
3Gain-
POLG-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLN-
-
-
-
1Loss-
POLQ-
-
-
-
1Loss-
POLR1D-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2G-
-
-
-
3Gain-
POLR2H-
-
-
-
3Gain-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR2K-
-
-
-
5Amp-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3F-
-
-
-
3Gain-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMGNT1-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
3Gain-
POMP-
-
-
-
1Loss-
POMT2-
-
-
-
3Gain-
POMZP3-
-
-
-
1Loss-
PON1-
-
-
-
1Loss-
PON2-
-
-
-
1Loss-
PON3-
-
-
-
1Loss-
POP1-
-
-
-
5Amp-
POP4-
-
-
-
1Loss-
POP7-
-
-
-
1Loss-
POPDC2-
-
-
-
1Loss-
POR-
-
-
-
3Gain-
POSTN-
-
-
-
1Loss-
POT1-
-
-
-
1Loss-
POTEC-
-
-
-
5Amp-
POTED-
-
-
-
1Loss-
POTEG-
-
-
-
3Gain-
POTEH-
-
-
-
3Gain-
POTEM-
-
-
-
3Gain-
POU1F1-
-
-
-
1Loss-
POU2AF1-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
3Gain-
POU3F1-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU4F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1B-
-
-
-
4Gain-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
3Gain-
PPARG-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPCS-
-
-
-
1Loss-
PPDPF-
-
-
-
1Loss-
PPDPFL-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA1-
-
-
-
3Gain-
PPFIA3-
-
-
-
3Gain-
PPFIA4-
-
-
-
3Gain-
PPFIBP2-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPIAL4C-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIE-
-
-
-
1Loss-
PPIH-
-
-
-
1Loss-
PPIL2-
-
-
-
3Gain-
PPIP5K2-
-
-
-
1Loss-
PPM1A-
-
-
-
3Gain-
PPM1F-
-
-
-
3Gain-
PPM1J-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPME1-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
3Gain-
PPP1R10-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
3Gain-
PPP1R14B-
-
-
-
3Gain-
PPP1R15A-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16A-
-
-
-
4Gain-
PPP1R16B-
-
-
-
1Loss-
PPP1R17-
-
-
-
3Gain-
PPP1R2-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R32-
-
-
-
3Gain-
PPP1R35-
-
-
-
1Loss-
PPP1R36-
-
-
-
3Gain-
PPP1R3A-
-
-
-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP1R3D-
-
-
-
1Loss-
PPP1R3E-
-
-
-
3Gain-
PPP1R42-
-
-
-
5Amp-
PPP1R8-
-
-
-
1Loss-
PPP1R9A-
-
-
-
1Loss-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R1A-
-
-
-
3Gain-
PPP2R1B-
-
-
-
3Gain-
PPP2R2A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R3A-
-
-
-
5Amp-
PPP2R3C-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
3Gain-
PPP2R5C-
-
-
-
3Gain-
PPP2R5E-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R2-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP4R3A-
-
-
-
3Gain-
PPP4R4-
-
-
-
3Gain-
PPP6R2-
-
-
-
3Gain-
PPP6R3-
-
-
-
3Gain-
PPT1-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
3Gain-
PQLC2-
-
-
-
1Loss-
PQLC2L-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRAME-
-
-
-
3Gain-
PRAMEF1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF4-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF7-
-
-
-
1Loss-
PRAMEF8-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRCP-
-
-
-
3Gain-
PRDM10-
-
-
-
3Gain-
PRDM11-
-
-
-
3Gain-
PRDM14-
-
-
-
5Amp-
PRDM15-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9p.Y51*
Nonsense
SNP
0.085
4Gain-
PRDX1-
-
-
-
1Loss-
PRDX5-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3A-
-
-
-
5Amp-
PRELID3B-
-
-
-
1Loss-
PRELP-
-
-
-
3Gain-
PREX1-
-
-
-
1Loss-
PREX2-
-
-
-
5Amp-
PRG2-
-
-
-
3Gain-
PRG3-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRIMA1-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
4Gain-
PRKAA2-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKACG-
-
-
-
3Gain-
PRKAG2-
-
-
-
1Loss-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKAR2B-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCG-
-
-
-
3Gain-
PRKCH-
-
-
-
3Gain-
PRKCI-
-
-
-
3Gain-
PRKCZ-
-
-
-
1Loss-
PRKD1-
-
-
-
3Gain-
PRKDC-
-
-
-
3Gain-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRIP1-
-
-
-
1Loss-
PRLR-
-
-
-
4Gain-
PRMT1-
-
-
-
3Gain-
PRMT2-
-
-
-
1Loss-
PRMT3-
-
-
-
3Gain-
PRMT5-
-
-
-
3Gain-
PRMT6-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROCR-
-
-
-
1Loss-
PRODH-
-
-
-
3Gain-
PRODH2-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROM1-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROSER3-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROX2-
-
-
-
3Gain-
PROZ-
-
-
-
1Loss-
PRPF19-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF31-
-
-
-
3Gain-
PRPF38A-
-
-
-
1Loss-
PRPF38B-
-
-
-
1Loss-
PRPF39-
-
-
-
3Gain-
PRPF6-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR12-
-
-
-
3Gain-
PRR14L-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR36p.D6E
Missense
SNP
0.625
2--
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR5L-
-
-
-
3Gain-
PRR7-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRC2C-
-
-
-
3Gain-
PRRG2-
-
-
-
3Gain-
PRRG4-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRT4-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS2-
-
-
-
1Loss-
PRSS23-
-
-
-
3Gain-
PRSS3-
-
-
-
8Amp-
PRSS37-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS58-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRXL2B-
-
-
-
1Loss-
PRXL2C-
-
-
-
3Gain-
PSAPL1-
-
-
-
1Loss-
PSAT1-
-
-
-
3Gain-
PSCA-
-
-
-
4Gain-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSENEN-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
5Amp-
PSMA1-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA3-
-
-
-
3Gain-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA6-
-
-
-
3Gain-
PSMA7-
-
-
-
1Loss-
PSMA8-
-
-
-
3Gain-
PSMB11-
-
-
-
3Gain-
PSMB2-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMC1-
-
-
-
3Gain-
PSMC2-
-
-
-
1Loss-
PSMC3-
-
-
-
3Gain-
PSMC6-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSME1-
-
-
-
3Gain-
PSME2-
-
-
-
3Gain-
PSMF1-
-
-
-
3Gain-
PSMG1-
-
-
-
1Loss-
PSMG2-
-
-
-
5Amp-
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSPH-
-
-
-
3Gain-
PSRC1-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
1Loss-
PTAR1-
-
-
-
3Gain-
PTBP2-
-
-
-
1Loss-
PTCD1-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCH1-
-
-
-
3Gain-
PTCH2-
-
-
-
1Loss-
PTDSS1p.D221H
Missense
SNP
0.272
5Amp-
PTGDR-
-
-
-
3Gain-
PTGDR2-
-
-
-
3Gain-
PTGER2-
-
-
-
3Gain-
PTGER3-
-
-
-
1Loss-
PTGER4-
-
-
-
4Gain-
PTGFR-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGIS-
-
-
-
1Loss-
PTGR2-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTH2-
-
-
-
3Gain-
PTK2-
-
-
-
4Gain-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
1Loss-
PTN-
-
-
-
1Loss-
PTOV1-
-
-
-
3Gain-
PTP4A2-
-
-
-
1Loss-
PTP4A3-
-
-
-
4Gain-
PTPDC1-
-
-
-
3Gain-
PTPMT1-
-
-
-
3Gain-
PTPN1-
-
-
-
1Loss-
PTPN12-
-
-
-
1Loss-
PTPN13p.C153S
Missense
SNP
1.000
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN2-
-
-
-
5Amp-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
3Gain-
PTPN22-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN5-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRCAP-
-
-
-
3Gain-
PTPRD-
-
-
-
1Loss-
PTPRF-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRJ-
-
-
-
3Gain-
PTPRN2-
-
-
-
1Loss-
PTPRT-
-
-
-
1Loss-
PTPRU-
-
-
-
1Loss-
PTPRZ1-
-
-
-
1Loss-
PTS-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PTX3-
-
-
-
3Gain-
PUF60-
-
-
-
4Gain-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
1Loss-
PUS3-
-
-
-
3Gain-
PUS7-
-
-
-
1Loss-
PUSL1-
-
-
-
1Loss-
PVALB-
-
-
-
3Gain-
PVRIG-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PXDNL-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PXYLP1-
-
-
-
5Amp-
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
4Gain-
PYDC2-
-
-
-
1Loss-
PYGB-
-
-
-
3Gain-
PYGL-
-
-
-
3Gain-
PYGM-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QSER1-
-
-
-
3Gain-
QSOX1-
-
-
-
3Gain-
QTRT2-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDML-
-
-
-
1Loss-
RAB11A-
-
-
-
3Gain-
RAB11FIP1p.E244*
Nonsense
SNP
0.439
3Gain-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
3Gain-
RAB19-
-
-
-
1Loss-
RAB1B-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB22A-
-
-
-
1Loss-
RAB24-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
5Amp-
RAB2B-
-
-
-
3Gain-
RAB30-
-
-
-
3Gain-
RAB33B-
-
-
-
1Loss-
RAB36-
-
-
-
3Gain-
RAB38-
-
-
-
3Gain-
RAB39A-
-
-
-
3Gain-
RAB3B-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB3IL1-
-
-
-
3Gain-
RAB42-
-
-
-
1Loss-
RAB43-
-
-
-
5Amp-
RAB4A-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5IF-
-
-
-
1Loss-
RAB6A-
-
-
-
3Gain-
RAB6B-
-
-
-
5Amp-
RAB7A-
-
-
-
5Amp-
RAB8B-
-
-
-
3Gain-
RAB9Bp.G41W
Missense
SNP
0.204
NDND-
RABEP1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABGGTA-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABIF-
-
-
-
3Gain-
RABL2B-
-
-
-
3Gain-
RABL3-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
4Gain-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
5Amp-
RAD21L1-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51B-
-
-
-
3Gain-
RAD54B-
-
-
-
5Amp-
RAD54L-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAD9A-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAG1-
-
-
-
3Gain-
RAG2-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
4Gain-
RALA-
-
-
-
3Gain-
RALGAPA1-
-
-
-
3Gain-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
5Amp-
RAMAC-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP17-
-
-
-
1Loss-
RANBP3L-
-
-
-
4Gain-
RANBP6-
-
-
-
1Loss-
RANGAP1-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF2-
-
-
-
1Loss-
RAPGEF5p.Q270R
Missense
SNP
0.590
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPSN-
-
-
-
3Gain-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RARRES2-
-
-
-
1Loss-
RARRES3-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
5Amp-
RASA3-
-
-
-
1Loss-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL1p.A492E
Missense
SNP
0.288
2--
RASAL2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
3Gain-
RASEF-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP2-
-
-
-
3Gain-
RASIP1-
-
-
-
3Gain-
RASL10A-
-
-
-
3Gain-
RASL11A-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASL12-
-
-
-
3Gain-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
3Gain-
RASSF2-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF6-
-
-
-
1Loss-
RAVER2-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
1Loss-
RBBP5-
-
-
-
3Gain-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
1Loss-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBFOX2-
-
-
-
3Gain-
RBL1-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM12-
-
-
-
1Loss-
RBM12B-
-
-
-
5Amp-
RBM14-
-
-
-
3Gain-
RBM14-RBM4-
-
-
-
3Gain-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
3Gain-
RBM26-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
1Loss-
RBM33-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
1Loss-
RBM39-
-
-
-
1Loss-
RBM4-
-
-
-
3Gain-
RBM42-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM48-
-
-
-
1Loss-
RBM4B-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM7-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RBMXL2-
-
-
-
3Gain-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP3-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPJL-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RBPMS2-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCAN1-
-
-
-
1Loss-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC1L-
-
-
-
3Gain-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCE1-
-
-
-
3Gain-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
3Gain-
RCN2-
-
-
-
1Loss-
RCN3-
-
-
-
3Gain-
RCOR1-
-
-
-
3Gain-
RCOR2-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
3Gain-
RDH10-
-
-
-
5Amp-
RDH11-
-
-
-
3Gain-
RDH12-
-
-
-
3Gain-
RDX-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
REC8-
-
-
-
3Gain-
RECK-
-
-
-
8Amp-
RECQL4-
-
-
-
4Gain-
REELD1-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REG4-
-
-
-
1Loss-
RELA-
-
-
-
3Gain-
RELCH-
-
-
-
3Gain-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
1Loss-
RELT-
-
-
-
3Gain-
REM1-
-
-
-
3Gain-
REM2-
-
-
-
3Gain-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
1Loss-
RER1-
-
-
-
1Loss-
REREp.Q731R
Missense
SNP
1.000
1Loss-
REST-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
RETNLB-
-
-
-
1Loss-
RETREG1-
-
-
-
4Gain-
REXO2-
-
-
-
3Gain-
RFC1-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFK-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX8p.R226Q
Missense
SNP
0.123
2--
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGMA-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
8Amp-
RGS1-
-
-
-
3Gain-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
1Loss-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
5Amp-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGS9BP-
-
-
-
1Loss-
RGSL1-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
3Gain-
RHBDL2-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEB-
-
-
-
1Loss-
RHEX-
-
-
-
3Gain-
RHO-
-
-
-
5Amp-
RHOA-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOD-
-
-
-
3Gain-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RHPN1-
-
-
-
4Gain-
RHPN2-
-
-
-
1Loss-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
3Gain-
RICTOR-
-
-
-
4Gain-
RIDA-
-
-
-
5Amp-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIMBP2p.R119L
Missense
SNP
0.652
2--
RIMKLA-
-
-
-
1Loss-
RIMS2-
-
-
-
5Amp-
RIMS3-
-
-
-
1Loss-
RIMS4-
-
-
-
1Loss-
RIN1-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RIN3-
-
-
-
3Gain-
RINT1-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIOX1-
-
-
-
3Gain-
RIOX2-
-
-
-
4Gain-
RIPK2-
-
-
-
5Amp-
RIPK3-
-
-
-
3Gain-
RIPK4-
-
-
-
1Loss-
RIPOR3-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLF-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN1-
-
-
-
5Amp-
RMI1-
-
-
-
3Gain-
RMND5B-
-
-
-
1Loss-
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11-
-
-
-
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEH2B-
-
-
-
1Loss-
RNASEH2C-
-
-
-
3Gain-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNF11-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF114-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
6Amp-
RNF13-
-
-
-
3Gain-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
1Loss-
RNF138-
-
-
-
6Amp-
RNF139-
-
-
-
4Gain-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF150-
-
-
-
1Loss-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
1Loss-
RNF169-
-
-
-
3Gain-
RNF17-
-
-
-
1Loss-
RNF170-
-
-
-
3Gain-
RNF175-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF186-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
5Amp-
RNF19B-
-
-
-
1Loss-
RNF2-
-
-
-
3Gain-
RNF20-
-
-
-
3Gain-
RNF207-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF212B-
-
-
-
3Gain-
RNF214-
-
-
-
3Gain-
RNF215-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF26-
-
-
-
3Gain-
RNF31-
-
-
-
3Gain-
RNF32-
-
-
-
1Loss-
RNF38-
-
-
-
8Amp-
RNF4-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNF7-
-
-
-
5Amp-
RNMT-
-
-
-
5Amp-
RNPC3-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROBO3p.E251V
Missense
SNP
0.520
3Gain-
ROBO4-
-
-
-
3Gain-
ROCK1-
-
-
-
3Gain-
ROM1-
-
-
-
3Gain-
ROMO1-
-
-
-
1Loss-
ROPN1-
-
-
-
1Loss-
ROPN1B-
-
-
-
1Loss-
ROPN1L-
-
-
-
4Gain-
ROR1-
-
-
-
1Loss-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
3Gain-
RP11-760D2.7.
Splice_Site
SNP
0.556
NDND-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
3Gain-
RPH3Ap.X295_splice
Splice_Site
DEL
0.731
2--
RPH3AL-
-
-
-
1Loss-
RPL10L-
-
-
-
3Gain-
RPL11-
-
-
-
1Loss-
RPL13A-
-
-
-
3Gain-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL27A-
-
-
-
3Gain-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
3Gain-
RPL30-
-
-
-
5Amp-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL35A-
-
-
-
1Loss-
RPL37-
-
-
-
4Gain-
RPL39L-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPL7-
-
-
-
5Amp-
RPL8-
-
-
-
4Gain-
RPL9-
-
-
-
1Loss-
RPLP1-
-
-
-
1Loss-
RPN1-
-
-
-
5Amp-
RPN2-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPP25L-
-
-
-
8Amp-
RPRD1A-
-
-
-
3Gain-
RPRD1B-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS11-
-
-
-
3Gain-
RPS13-
-
-
-
3Gain-
RPS14-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS19BP1-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS29-
-
-
-
3Gain-
RPS3-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA1-
-
-
-
1Loss-
RPS6KA4-
-
-
-
3Gain-
RPS6KA5-
-
-
-
3Gain-
RPS6KB2-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPS6KL1-
-
-
-
3Gain-
RPS8-
-
-
-
1Loss-
RPS9-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
4Gain-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
3Gain-
RRAGA-
-
-
-
1Loss-
RRAGC-
-
-
-
1Loss-
RRAS-
-
-
-
3Gain-
RRAS2-
-
-
-
3Gain-
RRBP1-
-
-
-
3Gain-
RRH-
-
-
-
1Loss-
RRM2B-
-
-
-
5Amp-
RRNAD1-
-
-
-
3Gain-
RRP1-
-
-
-
1Loss-
RRP15-
-
-
-
3Gain-
RRP1B-
-
-
-
1Loss-
RRP7A-
-
-
-
3Gain-
RRP8-
-
-
-
3Gain-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
5Amp-
RSBN1-
-
-
-
1Loss-
RSBN1L-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSF1-
-
-
-
3Gain-
RSPH1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSPO1-
-
-
-
1Loss-
RSPO2-
-
-
-
5Amp-
RSPO4-
-
-
-
3Gain-
RSRC1-
-
-
-
3Gain-
RSRC2p.K342Q
Missense
SNP
0.727
2--
RSRP1-
-
-
-
1Loss-
RTCA-
-
-
-
1Loss-
RTCB-
-
-
-
3Gain-
RTEL1-
-
-
-
1Loss-
RTEL1-TNFRSF6B-
-
-
-
1Loss-
RTF2-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1p.R1215H
p.W508C
Missense
Missense
SNP
SNP
0.110
0.191
3Gain-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
3Gain-
RTN1-
-
-
-
3Gain-
RTN3-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2-
-
-
-
3Gain-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
3Gain-
RTRAF-
-
-
-
3Gain-
RTTNp.G647C
Missense
SNP
0.179
4Gain-
RUBCN-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUFY4p.A301S
Missense
SNP
0.661
2--
RUNDC3B-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUNX1T1p.D640Tfs*19
Frame_Shift_Del
DEL
0.397
5Amp-
RUNX3-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
8Amp-
RUVBL1-
-
-
-
5Amp-
RUVBL2-
-
-
-
3Gain-
RWDD2B-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXFP3p.P417H
Missense
SNP
0.157
4Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
5Amp-
RYR2p.Q3462H
Missense
SNP
0.430
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-
S100B-
-
-
-
1Loss-
S100P-
-
-
-
1Loss-
S100PBP-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR1p.R319S
Missense
SNP
1.000
1Loss-
S1PR3-
-
-
-
3Gain-
SAA1-
-
-
-
3Gain-
SAA2-
-
-
-
3Gain-
SAA2-SAA4-
-
-
-
3Gain-
SAA4-
-
-
-
3Gain-
SAAL1-
-
-
-
3Gain-
SAC3D1-
-
-
-
3Gain-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SALL2-
-
-
-
3Gain-
SALL3-
-
-
-
3Gain-
SALL4-
-
-
-
1Loss-
SAMD10-
-
-
-
1Loss-
SAMD11-
-
-
-
1Loss-
SAMD12-
-
-
-
5Amp-
SAMD13-
-
-
-
1Loss-
SAMD15-
-
-
-
3Gain-
SAMD4A-
-
-
-
3Gain-
SAMD7-
-
-
-
3Gain-
SAMD9-
-
-
-
1Loss-
SAMD9L-
-
-
-
1Loss-
SAMHD1-
-
-
-
1Loss-
SAMM50-
-
-
-
3Gain-
SAMSN1-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SAP25-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARDHp.E136K
Missense
SNP
0.200
2--
SARS-
-
-
-
1Loss-
SART1-
-
-
-
3Gain-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATL1p.L94R
Missense
SNP
0.541
NDND-
SAV1-
-
-
-
3Gain-
SAXO1-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
3Gain-
SBF2-
-
-
-
3Gain-
SBSN-
-
-
-
1Loss-
SBSPON-
-
-
-
5Amp-
SC5D-
-
-
-
3Gain-
SCAF1-
-
-
-
3Gain-
SCAF4-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
1Loss-
SCAND1-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD1-
-
-
-
3Gain-
SCFD2-
-
-
-
1Loss-
SCGB1A1-
-
-
-
3Gain-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1-
-
-
-
3Gain-
SCGB1D2-
-
-
-
3Gain-
SCGB1D4-
-
-
-
3Gain-
SCGB2A1-
-
-
-
3Gain-
SCGB2A2-
-
-
-
3Gain-
SCGB2B2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCHIP1-
-
-
-
3Gain-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCLT1-
-
-
-
1Loss-
SCMH1-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1B-
-
-
-
1Loss-
SCN2B-
-
-
-
3Gain-
SCN3B-
-
-
-
3Gain-
SCN4B-
-
-
-
3Gain-
SCN5A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1D-
-
-
-
1Loss-
SCNN1Gp.E315Q
Missense
SNP
0.281
2--
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
3Gain-
SCOC-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCRG1-
-
-
-
1Loss-
SCRIB-
-
-
-
4Gain-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
4Gain-
SCRT2-
-
-
-
3Gain-
SCUBE1-
-
-
-
3Gain-
SCUBE2-
-
-
-
3Gain-
SCX-
-
-
-
4Gain-
SCYL1-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC2-
-
-
-
5Amp-
SDC3-
-
-
-
1Loss-
SDC4-
-
-
-
1Loss-
SDCBP-
-
-
-
5Amp-
SDCBP2-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDF4-
-
-
-
1Loss-
SDHA-
-
-
-
4Gain-
SDHAF2-
-
-
-
3Gain-
SDHAF3-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR39U1-
-
-
-
3Gain-
SEC11A-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEC22A-
-
-
-
1Loss-
SEC22B-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23A-
-
-
-
3Gain-
SEC23B-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61A1-
-
-
-
5Amp-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SECISBP2-
-
-
-
3Gain-
SEH1L-
-
-
-
5Amp-
SEL1L-
-
-
-
3Gain-
SEL1L2-
-
-
-
3Gain-
SEL1L3-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENOH-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOM-
-
-
-
3Gain-
SELENON-
-
-
-
1Loss-
SELENOO-
-
-
-
3Gain-
SELENOP-
-
-
-
4Gain-
SELENOS-
-
-
-
1Loss-
SELENOT-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEM1-
-
-
-
1Loss-
SEMA3A-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
1Loss-
SEMA3D-
-
-
-
1Loss-
SEMA3E-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
1Loss-
SEMA4D-
-
-
-
3Gain-
SEMA5A-
-
-
-
4Gain-
SEMA5B-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA7A-
-
-
-
1Loss-
SEMG1-
-
-
-
1Loss-
SEMG2-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
1Loss-
SENP7-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT3-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERGEF-
-
-
-
3Gain-
SERHL2-
-
-
-
3Gain-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINA1-
-
-
-
3Gain-
SERPINA10-
-
-
-
3Gain-
SERPINA11-
-
-
-
3Gain-
SERPINA12-
-
-
-
3Gain-
SERPINA3-
-
-
-
3Gain-
SERPINA4p.F388L
Missense
SNP
0.363
3Gain-
SERPINA5-
-
-
-
3Gain-
SERPINA6-
-
-
-
3Gain-
SERPINA9-
-
-
-
3Gain-
SERPINB10-
-
-
-
5Amp-
SERPINB11-
-
-
-
5Amp-
SERPINB12-
-
-
-
5Amp-
SERPINB13-
-
-
-
5Amp-
SERPINB2-
-
-
-
5Amp-
SERPINB3-
-
-
-
5Amp-
SERPINB4-
-
-
-
5Amp-
SERPINB5-
-
-
-
5Amp-
SERPINB7-
-
-
-
5Amp-
SERPINB8-
-
-
-
5Amp-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
3Gain-
SERPINE1-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPING1-
-
-
-
3Gain-
SERPINH1-
-
-
-
3Gain-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESN2-
-
-
-
1Loss-
SESN3-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD3-
-
-
-
3Gain-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6L-
-
-
-
3Gain-
SF1-
-
-
-
3Gain-
SF3A1-
-
-
-
3Gain-
SF3A3-
-
-
-
1Loss-
SF3B2-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SFN-
-
-
-
1Loss-
SFPQ-
-
-
-
1Loss-
SFRP1-
-
-
-
5Amp-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFTA3-
-
-
-
3Gain-
SFTPC-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGIP1-
-
-
-
1Loss-
SGK2-
-
-
-
1Loss-
SGK3-
-
-
-
5Amp-
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGPP1-
-
-
-
3Gain-
SGSM1-
-
-
-
3Gain-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
3Gain-
SGTB-
-
-
-
1Loss-
SH2B2-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP1-
-
-
-
3Gain-
SH3BP2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK1p.P273T
Missense
SNP
0.486
3Gain-
SHANK2-
-
-
-
3Gain-
SHANK3-
-
-
-
3Gain-
SHARPIN-
-
-
-
4Gain-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC3-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHHp.R133M
Missense
SNP
1.000
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
3Gain-
SHISAL1-
-
-
-
3Gain-
SHISAL2A-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAE-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
1Loss-
SIDT2-
-
-
-
3Gain-
SIGLEC1-
-
-
-
3Gain-
SIGLEC11-
-
-
-
3Gain-
SIGLEC12-
-
-
-
3Gain-
SIGLEC14-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIGLEC5-
-
-
-
3Gain-
SIGLEC6-
-
-
-
3Gain-
SIGMAR1-
-
-
-
8Amp-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIK2-
-
-
-
3Gain-
SIK3-
-
-
-
3Gain-
SIKE1-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIPA1-
-
-
-
3Gain-
SIPA1L1-
-
-
-
3Gain-
SIPA1L2-
-
-
-
3Gain-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT1-
-
-
-
1Loss-
SIT1-
-
-
-
8Amp-
SIVA1-
-
-
-
3Gain-
SIX1-
-
-
-
3Gain-
SIX4-
-
-
-
3Gain-
SIX6-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKIV2Lp.S625*
Nonsense
SNP
0.658
2--
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
4Gain-
SLA-
-
-
-
4Gain-
SLA2-
-
-
-
1Loss-
SLAIN1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
1Loss-
SLC10A1-
-
-
-
3Gain-
SLC10A2-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A5-
-
-
-
5Amp-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
1Loss-
SLC12A7-
-
-
-
4Gain-
SLC12A8-
-
-
-
1Loss-
SLC12A9-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A3-
-
-
-
1Loss-
SLC13A4-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
1Loss-
SLC15A3-
-
-
-
3Gain-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC16A8-
-
-
-
3Gain-
SLC16A9-
-
-
-
1Loss-
SLC17A6p.G234A
Missense
SNP
0.377
3Gain-
SLC17A7-
-
-
-
3Gain-
SLC17A9-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC19A1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
3Gain-
SLC1A3-
-
-
-
4Gain-
SLC1A7-
-
-
-
1Loss-
SLC20A2-
-
-
-
3Gain-
SLC22A10-
-
-
-
3Gain-
SLC22A11-
-
-
-
3Gain-
SLC22A12-
-
-
-
3Gain-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A17-
-
-
-
3Gain-
SLC22A24-
-
-
-
3Gain-
SLC22A25-
-
-
-
3Gain-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A6-
-
-
-
3Gain-
SLC22A8-
-
-
-
3Gain-
SLC22A9-
-
-
-
3Gain-
SLC23A1-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
1Loss-
SLC24A3-
-
-
-
3Gain-
SLC24A4-
-
-
-
3Gain-
SLC25A1-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A13-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A16-
-
-
-
1Loss-
SLC25A17-
-
-
-
3Gain-
SLC25A18-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A21-
-
-
-
3Gain-
SLC25A24-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A29-
-
-
-
3Gain-
SLC25A30-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A32-
-
-
-
5Amp-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
-
-
-
5Amp-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A40-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A45-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
3Gain-
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC25A52-
-
-
-
6Amp-
SLC26A1-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
1Loss-
SLC26A4-
-
-
-
1Loss-
SLC26A5-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
5Amp-
SLC26A9-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A3-
-
-
-
3Gain-
SLC29A2-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A1-
-
-
-
1Loss-
SLC2A10-
-
-
-
1Loss-
SLC2A11-
-
-
-
3Gain-
SLC2A2-
-
-
-
3Gain-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
1Loss-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A2-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC30A8-
-
-
-
5Amp-
SLC30A9-
-
-
-
1Loss-
SLC32A1-
-
-
-
1Loss-
SLC33A1-
-
-
-
3Gain-
SLC34A1-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35A3-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
1Loss-
SLC35B4-
-
-
-
1Loss-
SLC35C1-
-
-
-
3Gain-
SLC35C2-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35D2-
-
-
-
3Gain-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35E4-
-
-
-
3Gain-
SLC35F2-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
3Gain-
SLC35G2-
-
-
-
5Amp-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
3Gain-
SLC37A1-
-
-
-
1Loss-
SLC37A2-
-
-
-
3Gain-
SLC37A3-
-
-
-
1Loss-
SLC37A4-
-
-
-
3Gain-
SLC38A2-
-
-
-
2-AC005324.3--SLC38A2
SLC38A3-
-
-
-
1Loss-
SLC38A6-
-
-
-
3Gain-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A13-
-
-
-
3Gain-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
3Gain-
SLC39A4-
-
-
-
4Gain-
SLC39A6-
-
-
-
3Gain-
SLC39A8-
-
-
-
1Loss-
SLC39A9-
-
-
-
3Gain-
SLC3A2-
-
-
-
3Gain-
SLC41A1-
-
-
-
3Gain-
SLC41A3-
-
-
-
1Loss-
SLC43A1-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC43A3-
-
-
-
3Gain-
SLC44A1-
-
-
-
3Gain-
SLC44A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A2-
-
-
-
4Gain-
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
4Gain-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A11p.D390G
Missense
SNP
0.449
3Gain-
SLC4A2-
-
-
-
1Loss-
SLC4A4-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
1Loss-
SLC51B-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
4Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A1p.A401S
Missense
SNP
0.621
3Gain-
SLC5A10-
-
-
-
1Loss-
SLC5A12-
-
-
-
3Gain-
SLC5A3-
-
-
-
1Loss-
SLC5A4-
-
-
-
3Gain-
SLC5A9-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A13p.V101I
Missense
SNP
0.264
2--
SLC6A16-
-
-
-
3Gain-
SLC6A17-
-
-
-
1Loss-
SLC6A18p.A569Rfs*78
Frame_Shift_Del
DEL
0.307
4Gain-
SLC6A19-
-
-
-
4Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
4Gain-
SLC6A5-
-
-
-
3Gain-
SLC6A6-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC6A9-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A11-
-
-
-
1Loss-
SLC7A13-
-
-
-
5Amp-
SLC7A14-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A4-
-
-
-
3Gain-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC7A9-
-
-
-
1Loss-
SLC8A3-
-
-
-
3Gain-
SLC9A1-
-
-
-
1Loss-
SLC9A2p.T759R
Missense
SNP
0.367
2--
SLC9A3-
-
-
-
4Gain-
SLC9A8-
-
-
-
1Loss-
SLC9A9-
-
-
-
6Amp-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C1-
-
-
-
1Loss-
SLC9C2-
-
-
-
3Gain-
SLCO1A2p.E585D
Missense
SNP
0.567
2--
SLCO2A1-
-
-
-
5Amp-
SLCO2B1-
-
-
-
3Gain-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
1Loss-
SLCO5A1-
-
-
-
5Amp-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLFNL1-
-
-
-
1Loss-
SLIRP-
-
-
-
3Gain-
SLIT2-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1p.E450*
Nonsense
SNP
0.444
1Loss-
SLITRK2p.V357L
Missense
SNP
0.376
NDND-
SLITRK3-
-
-
-
3Gain-
SLITRK4p.P590Q
p.L253*
Missense
Nonsense
SNP
SNP
0.240
0.245
NDND-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLN-
-
-
-
3Gain-
SLPI-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLURP1-
-
-
-
4Gain-
SLURP2-
-
-
-
4Gain-
SLX4IP-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP2-
-
-
-
1Loss-
SMARCA1p.W860R
Missense
SNP
0.314
NDND-
SMARCA2-
-
-
-
1Loss-
SMARCA5-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCC1-
-
-
-
1Loss-
SMARCD3-
-
-
-
1Loss-
SMC1B-
-
-
-
3Gain-
SMC2-
-
-
-
3Gain-
SMC4-
-
-
-
3Gain-
SMC5-
-
-
-
3Gain-
SMCO1-
-
-
-
1Loss-
SMCO4-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMG7-
-
-
-
3Gain-
SMIM1-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM12-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
3Gain-
SMIM2-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
3Gain-
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
6Amp-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMOC1-
-
-
-
3Gain-
SMOX-
-
-
-
3Gain-
SMPD1-
-
-
-
3Gain-
SMPDL3B-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SMTNL1-
-
-
-
3Gain-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
6Amp-
SMURF1-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
1Loss-
SNAI2-
-
-
-
3Gain-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC1-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SND1-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNIP1-
-
-
-
1Loss-
SNORD83B-
-
-
-
NDNDEPCAM--SNORD83B
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP40-
-
-
-
1Loss-
SNRNP70-
-
-
-
3Gain-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
5Amp-
SNTG1p.A513P
Missense
SNP
0.521
3Gain-
SNTN-
-
-
-
1Loss-
SNU13-
-
-
-
3Gain-
SNUPN-
-
-
-
1Loss-
SNW1-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX14p.C25S
Missense
SNP
0.607
2--
SNX15-
-
-
-
3Gain-
SNX16-
-
-
-
5Amp-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
3Gain-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
1Loss-
SNX22-
-
-
-
3Gain-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX31-
-
-
-
5Amp-
SNX32-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX4-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX6-
-
-
-
3Gain-
SNX7-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOCS4-
-
-
-
3Gain-
SOCS6-
-
-
-
4Gain-
SOD1-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOGA1-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3p.Y609C
Missense
SNP
0.645
2--
SORL1-
-
-
-
3Gain-
SORT1-
-
-
-
1Loss-
SOS2-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX10-
-
-
-
3Gain-
SOX12-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
3Gain-
SOX18-
-
-
-
1Loss-
SOX2-
-
-
-
5Amp-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX6-
-
-
-
3Gain-
SOX7-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
3Gain-
SPAAR-
-
-
-
8Amp-
SPACA6-
-
-
-
3Gain-
SPACA7-
-
-
-
1Loss-
SPAG1-
-
-
-
5Amp-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG17-
-
-
-
1Loss-
SPAG4-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
8Amp-
SPAM1-
-
-
-
1Loss-
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
7Amp-
SPATA17-
-
-
-
3Gain-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
3Gain-
SPATA2-
-
-
-
1Loss-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA25-
-
-
-
1Loss-
SPATA31A3p.Q1234Hfs*25
Frame_Shift_Del
DEL
0.250
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA4-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA5-
-
-
-
1Loss-
SPATA6-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA7-
-
-
-
3Gain-
SPATA8-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATC1-
-
-
-
4Gain-
SPATC1L-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPCS2-
-
-
-
3Gain-
SPCS3-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYC-
-
-
-
3Gain-
SPDYE3-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPEF2p.Q720E
Missense
SNP
0.261
4Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPESP1-
-
-
-
1Loss-
SPG21-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPI1-
-
-
-
3Gain-
SPIB-
-
-
-
3Gain-
SPICE1-
-
-
-
1Loss-
SPIDR-
-
-
-
3Gain-
SPIN1-
-
-
-
3Gain-
SPINDOC-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINK4-
-
-
-
6Amp-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT3-
-
-
-
1Loss-
SPINT4-
-
-
-
1Loss-
SPIRE1-
-
-
-
5Amp-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
1Loss-
SPOCD1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPON1-
-
-
-
3Gain-
SPON2-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SPSB4-
-
-
-
5Amp-
SPTA1p.V1691F
Missense
SNP
0.432
3Gain-
SPTB-
-
-
-
3Gain-
SPTBN2-
-
-
-
3Gain-
SPTLC1-
-
-
-
3Gain-
SPTLC2-
-
-
-
3Gain-
SPTLC3-
-
-
-
3Gain-
SPTSSA-
-
-
-
3Gain-
SPTSSB-
-
-
-
3Gain-
SPTY2D1-
-
-
-
3Gain-
SPZ1-
-
-
-
1Loss-
SQLE-
-
-
-
4Gain-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRC-
-
-
-
1Loss-
SRD5A1-
-
-
-
4Gain-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRI-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP54-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
1Loss-
SRPRA-
-
-
-
3Gain-
SRPRB-
-
-
-
5Amp-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
3Gain-
SRRM1-
-
-
-
1Loss-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF4-
-
-
-
1Loss-
SRSF5-
-
-
-
3Gain-
SRSF6-
-
-
-
1Loss-
SRSF8-
-
-
-
3Gain-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
3Gain-
SS18L1-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSBP1-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSBP3-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSH3-
-
-
-
3Gain-
SSMEM1-
-
-
-
1Loss-
SSPO-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSR3-
-
-
-
3Gain-
SSRP1-
-
-
-
3Gain-
SSSCA1-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSTR1-
-
-
-
3Gain-
SSTR3-
-
-
-
3Gain-
SSTR4-
-
-
-
3Gain-
SSU72-
-
-
-
1Loss-
SSU72P8-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST13-
-
-
-
3Gain-
ST14-
-
-
-
3Gain-
ST18-
-
-
-
3Gain-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL1-
-
-
-
4Gain-
ST3GAL3-
-
-
-
1Loss-
ST3GAL4-
-
-
-
3Gain-
ST3GAL6-
-
-
-
4Gain-
ST5-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7-
-
-
-
1Loss-
ST7L-
-
-
-
1Loss-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAG1-
-
-
-
5Amp-
STAG3-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STARD10-
-
-
-
3Gain-
STARD13-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9p.D2499E
Missense
SNP
0.318
2--
STATH-
-
-
-
1Loss-
STAU1-
-
-
-
1Loss-
STAU2-
-
-
-
5Amp-
STBD1-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
1Loss-
STEAP4-
-
-
-
1Loss-
STIL-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STIP1-
-
-
-
3Gain-
STK10-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK24-
-
-
-
1Loss-
STK3-
-
-
-
5Amp-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK33-
-
-
-
3Gain-
STK35-
-
-
-
3Gain-
STK4-
-
-
-
1Loss-
STK40-
-
-
-
1Loss-
STMN1-
-
-
-
1Loss-
STMN2-
-
-
-
5Amp-
STMN3-
-
-
-
1Loss-
STMN4-
-
-
-
1Loss-
STMP1-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STOML2-
-
-
-
8Amp-
STOML3-
-
-
-
1Loss-
STON2-
-
-
-
3Gain-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRA8-
-
-
-
1Loss-
STRIP1-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STRN3-
-
-
-
3Gain-
STT3A-
-
-
-
3Gain-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
1Loss-
STX16-NPEPL1-
-
-
-
1Loss-
STX17-
-
-
-
3Gain-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX3-
-
-
-
3Gain-
STX5-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP3-
-
-
-
1Loss-
STXBP5L-
-
-
-
1Loss-
STXBP6-
-
-
-
3Gain-
STYX-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
4Gain-
SUCLA2-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
5Amp-
SULF2-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT4A1-
-
-
-
3Gain-
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUMO3-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
3Gain-
SUPT16H-
-
-
-
3Gain-
SUPT20H-
-
-
-
1Loss-
SUSD2-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVBP-
-
-
-
1Loss-
SVIP-
-
-
-
3Gain-
SVOPL-
-
-
-
1Loss-
SWAP70-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
5Amp-
SYCE3-
-
-
-
3Gain-
SYCP1-
-
-
-
1Loss-
SYCP2-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
3Gain-
SYNC-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
3Gain-
SYNE1p.E5379*
Nonsense
SNP
0.607
2--
SYNE2-
-
-
-
3Gain-
SYNE3-
-
-
-
3Gain-
SYNGR1-
-
-
-
3Gain-
SYNJ1-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
3Gain-
SYNJ2BP-COX16-
-
-
-
3Gain-
SYNM-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL1-
-
-
-
1Loss-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
1Loss-
SYS1-DBNDD2-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT12-
-
-
-
3Gain-
SYT13-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT16-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT3-
-
-
-
3Gain-
SYT4p.C348F
Missense
SNP
0.516
1Loss-
SYT6-
-
-
-
1Loss-
SYT7-
-
-
-
3Gain-
SYT9-
-
-
-
3Gain-
SYTL1-
-
-
-
1Loss-
SYTL2-
-
-
-
3Gain-
SYVN1-
-
-
-
3Gain-
SZRD1-
-
-
-
1Loss-
SZT2p.W1937L
Missense
SNP
1.000
1Loss-
TAAR2p.S69Y
Missense
SNP
0.673
2--
TAB1-
-
-
-
3Gain-
TAC1-
-
-
-
1Loss-
TACC1-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
3Gain-
TAF12-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1D-
-
-
-
3Gain-
TAF1L-
-
-
-
6Amp-
TAF2-
-
-
-
5Amp-
TAF4-
-
-
-
1Loss-
TAF4B-
-
-
-
3Gain-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
1Loss-
TAF6L-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TAGLN3-
-
-
-
1Loss-
TAL1-
-
-
-
1Loss-
TAL2-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANGO2-
-
-
-
3Gain-
TAPT1-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARDBP-
-
-
-
1Loss-
TARM1-
-
-
-
3Gain-
TARS-
-
-
-
4Gain-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TAS2R1-
-
-
-
4Gain-
TAS2R16-
-
-
-
1Loss-
TAS2R3-
-
-
-
1Loss-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
1Loss-
TAS2R4-
-
-
-
1Loss-
TAS2R40-
-
-
-
1Loss-
TAS2R41-
-
-
-
1Loss-
TAS2R5-
-
-
-
1Loss-
TAS2R60-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
4Gain-
TATDN2-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10A-
-
-
-
3Gain-
TBC1D10C-
-
-
-
3Gain-
TBC1D14-
-
-
-
1Loss-
TBC1D17-
-
-
-
3Gain-
TBC1D19-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D21-
-
-
-
1Loss-
TBC1D22A-
-
-
-
3Gain-
TBC1D23-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D31-
-
-
-
5Amp-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
3Gain-
TBCK-
-
-
-
1Loss-
TBL1XR1-
-
-
-
7Amp-
TBL2-
-
-
-
3Gain-
TBPL2-
-
-
-
3Gain-
TBRG1-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TBX10-
-
-
-
3Gain-
TBX15-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX20p.S308Y
Missense
SNP
0.479
3Gain-
TBXAS1-
-
-
-
1Loss-
TC2N-
-
-
-
3Gain-
TCAF1-
-
-
-
1Loss-
TCAF2-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCEA2-
-
-
-
1Loss-
TCEA3-
-
-
-
1Loss-
TCEANC2-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF20-
-
-
-
3Gain-
TCF24-
-
-
-
5Amp-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCFL5-
-
-
-
1Loss-
TCHH-
-
-
-
4Gain-
TCHHL1-
-
-
-
3Gain-
TCIM-
-
-
-
5Amp-
TCIRG1-
-
-
-
3Gain-
TCL1A-
-
-
-
3Gain-
TCL1B-
-
-
-
3Gain-
TCN1-
-
-
-
3Gain-
TCN2-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP10p.E192Kfs*40
Frame_Shift_Del
DEL
0.963
2--
TCP10L-
-
-
-
1Loss-
TCP11L1-
-
-
-
3Gain-
TCP11X2p.T193K
Missense
SNP
0.305
NDND-
TCTA-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
1Loss-
TCTEX1D4-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDP1-
-
-
-
3Gain-
TDRD10-
-
-
-
3Gain-
TDRD12-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRD5-
-
-
-
3Gain-
TDRD7-
-
-
-
3Gain-
TDRD9-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEAD1-
-
-
-
3Gain-
TEAD2-
-
-
-
3Gain-
TEC-
-
-
-
1Loss-
TECPR1-
-
-
-
1Loss-
TECPR2-
-
-
-
3Gain-
TECRL-
-
-
-
1Loss-
TECTA-
-
-
-
3Gain-
TEDC1-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
3Gain-
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
3Gain-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
4Gain-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TEP1-
-
-
-
3Gain-
TERF1-
-
-
-
5Amp-
TERT-
-
-
-
4Gain-
TES-
-
-
-
1Loss-
TESK1-
-
-
-
8Amp-
TESK2-
-
-
-
1Loss-
TESMIN-
-
-
-
3Gain-
TET1-
-
-
-
1Loss-
TET2-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX12-
-
-
-
3Gain-
TEX15-
-
-
-
1Loss-
TEX22-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX33-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX38-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX47-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TF-
-
-
-
5Amp-
TFAM-
-
-
-
1Loss-
TFAP2C-
-
-
-
1Loss-
TFAP2E-
-
-
-
1Loss-
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
5Amp-
TFEC-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFG-
-
-
-
1Loss-
TFIP11-
-
-
-
3Gain-
TFPI2-
-
-
-
1Loss-
TFPT-
-
-
-
3Gain-
TFR2-
-
-
-
1Loss-
TFRC-
-
-
-
1Loss-
TG-
-
-
-
4Gain-
TGDS-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFB3-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
1Loss-
TGIF2-
-
-
-
1Loss-
TGIF2-RAB5IF-
-
-
-
1Loss-
TGIF2LXp.A130D
Missense
SNP
0.308
NDND-
TGM1-
-
-
-
3Gain-
TGM2-
-
-
-
1Loss-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
3Gain-
THAP10-
-
-
-
1Loss-
THAP12-
-
-
-
3Gain-
THAP3-
-
-
-
1Loss-
THAP5-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THAP9-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
4Gain-
THEMIS2-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC1-
-
-
-
4Gain-
THOC2p.D591H
Missense
SNP
0.179
NDND-
THOC3-
-
-
-
1Loss-
THOC5-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRAP3-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
3Gain-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THTPA-
-
-
-
3Gain-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
3Gain-
THYN1-
-
-
-
3Gain-
TIAM1-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIE1-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
3Gain-
TIGD4-
-
-
-
1Loss-
TIGD5-
-
-
-
4Gain-
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10-
-
-
-
3Gain-
TIMM10B-
-
-
-
3Gain-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
3Gain-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM8B-
-
-
-
3Gain-
TIMM9-
-
-
-
3Gain-
TIMMDC1-
-
-
-
1Loss-
TIMP3-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TINAGL1-
-
-
-
1Loss-
TINF2-
-
-
-
3Gain-
TIPARP-
-
-
-
3Gain-
TIPIN-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
3Gain-
TJP2-
-
-
-
3Gain-
TKFC-
-
-
-
3Gain-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
1Loss-
TLE1-
-
-
-
3Gain-
TLE3-
-
-
-
1Loss-
TLE4-
-
-
-
3Gain-
TLL1-
-
-
-
1Loss-
TLN1-
-
-
-
8Amp-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLR6-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM2D3-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
1Loss-
TM4SF19-TCTEX1D2-
-
-
-
1Loss-
TM4SF4-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM7SF2-
-
-
-
3Gain-
TM7SF3p.R542T
Missense
SNP
0.411
2--
TM9SF1-
-
-
-
3Gain-
TM9SF2-
-
-
-
1Loss-
TM9SF4-
-
-
-
3Gain-
TMA16-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMC1-
-
-
-
3Gain-
TMC2-
-
-
-
3Gain-
TMC3-
-
-
-
1Loss-
TMC4-
-
-
-
3Gain-
TMCC1-
-
-
-
5Amp-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO2-
-
-
-
1Loss-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED10p.Q63*
Nonsense
SNP
0.609
3Gain-
TMED3-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
3Gain-
TMED9-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM108p.R200Q
Missense
SNP
0.145
5Amp-
TMEM109-
-
-
-
3Gain-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM121-
-
-
-
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM123-
-
-
-
3Gain-
TMEM125-
-
-
-
1Loss-
TMEM126A-
-
-
-
3Gain-
TMEM126B-
-
-
-
3Gain-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM130-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132Ap.L400F
Missense
SNP
0.460
3Gain-
TMEM134-
-
-
-
3Gain-
TMEM135-
-
-
-
3Gain-
TMEM136-
-
-
-
3Gain-
TMEM138-
-
-
-
3Gain-
TMEM139-
-
-
-
1Loss-
TMEM140-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM147-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
3Gain-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM168-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM176A-
-
-
-
1Loss-
TMEM176B-
-
-
-
1Loss-
TMEM178B-
-
-
-
1Loss-
TMEM179-
-
-
-
3Gain-
TMEM179B-
-
-
-
3Gain-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM184C-
-
-
-
1Loss-
TMEM189-
-
-
-
1Loss-
TMEM189-UBE2V1-
-
-
-
1Loss-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM200B-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
1Loss-
TMEM209-
-
-
-
1Loss-
TMEM211-
-
-
-
3Gain-
TMEM212-
-
-
-
7Amp-
TMEM213-
-
-
-
1Loss-
TMEM215-
-
-
-
6Amp-
TMEM216-
-
-
-
3Gain-
TMEM218-
-
-
-
3Gain-
TMEM220-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM223-
-
-
-
3Gain-
TMEM225-
-
-
-
3Gain-
TMEM225B-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM229B-
-
-
-
3Gain-
TMEM230-
-
-
-
3Gain-
TMEM232-
-
-
-
1Loss-
TMEM234-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
1Loss-
TMEM241-
-
-
-
3Gain-
TMEM243-
-
-
-
1Loss-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
4Gain-
TMEM25-
-
-
-
3Gain-
TMEM251-
-
-
-
3Gain-
TMEM252-
-
-
-
3Gain-
TMEM253-
-
-
-
3Gain-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
3Gain-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
3Gain-
TMEM262-
-
-
-
3Gain-
TMEM266-
-
-
-
1Loss-
TMEM267-
-
-
-
4Gain-
TMEM269-
-
-
-
1Loss-
TMEM270-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
3Gain-
TMEM33-
-
-
-
1Loss-
TMEM35B-
-
-
-
1Loss-
TMEM38B-
-
-
-
3Gain-
TMEM39A-
-
-
-
1Loss-
TMEM39B-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM41B-
-
-
-
3Gain-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
1Loss-
TMEM45A-
-
-
-
1Loss-
TMEM45B-
-
-
-
3Gain-
TMEM50A-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM53-
-
-
-
1Loss-
TMEM54-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM59-
-
-
-
1Loss-
TMEM60-
-
-
-
1Loss-
TMEM61-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
3Gain-
TMEM64-
-
-
-
5Amp-
TMEM65-
-
-
-
4Gain-
TMEM67-
-
-
-
5Amp-
TMEM68-
-
-
-
3Gain-
TMEM69-
-
-
-
1Loss-
TMEM70-
-
-
-
5Amp-
TMEM71-
-
-
-
4Gain-
TMEM72-
-
-
-
1Loss-
TMEM74-
-
-
-
5Amp-
TMEM74B-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM86A-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
8Amp-
TMEM9-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM9B-
-
-
-
3Gain-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD3-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
3Gain-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS4-
-
-
-
3Gain-
TMPRSS5-
-
-
-
3Gain-
TMPRSS6-
-
-
-
3Gain-
TMPRSS7-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMUB1-
-
-
-
1Loss-
TMX1-
-
-
-
3Gain-
TMX2-
-
-
-
3Gain-
TMX2-CTNND1-
-
-
-
3Gain-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNFAIP2-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
5Amp-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
3Gain-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
1Loss-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF10-
-
-
-
7Amp-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIK-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNKS1BP1-
-
-
-
3Gain-
TNNp.M947I;p.E948*
Nonsense
MNP
0.348
3Gain-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
1Loss-
TNNI1-
-
-
-
3Gain-
TNNI3K-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TOB2-
-
-
-
3Gain-
TOE1-
-
-
-
1Loss-
TOGARAM1-
-
-
-
3Gain-
TOM1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM20L-
-
-
-
3Gain-
TOMM22-
-
-
-
3Gain-
TOMM34-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
1Loss-
TOMM7-
-
-
-
3Gain-
TOMM70-
-
-
-
1Loss-
TONSL-
-
-
-
4Gain-
TOP1-
-
-
-
1Loss-
TOP1MT-
-
-
-
4Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
5Amp-
TOPORS-
-
-
-
6Amp-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
5Amp-
TOX2-
-
-
-
1Loss-
TOX4-
-
-
-
3Gain-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
3Gain-
TP53BP2-
-
-
-
3Gain-
TP53I11-
-
-
-
3Gain-
TP53INP1-
-
-
-
5Amp-
TP53INP2-
-
-
-
1Loss-
TP53RK-
-
-
-
1Loss-
TP53TG5-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TP73-
-
-
-
1Loss-
TPBGL-
-
-
-
3Gain-
TPCN2-
-
-
-
3Gain-
TPD52-
-
-
-
5Amp-
TPD52L2-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPGS2-
-
-
-
3Gain-
TPH1-
-
-
-
3Gain-
TPK1-
-
-
-
1Loss-
TPM1-
-
-
-
3Gain-
TPM2-
-
-
-
8Amp-
TPM3-
-
-
-
3Gain-
TPP1-
-
-
-
3Gain-
TPP2-
-
-
-
1Loss-
TPPP-
-
-
-
4Gain-
TPPP2-
-
-
-
3Gain-
TPR-
-
-
-
3Gain-
TPRA1-
-
-
-
5Amp-
TPRG1-
-
-
-
3Gain-
TPRG1L-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
3Gain-
TPT1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TPX2-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRABD-
-
-
-
3Gain-
TRABD2B-
-
-
-
1Loss-
TRAF3-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAF6-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
5Amp-
TRAM1L1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC3-
-
-
-
1Loss-
TRAPPC4-
-
-
-
3Gain-
TRAPPC6B-
-
-
-
3Gain-
TRAPPC8-
-
-
-
6Amp-
TRAPPC9-
-
-
-
4Gain-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
1Loss-
TRDV1-
-
-
-
3Gain-
TREH-
-
-
-
3Gain-
TREX1-
-
-
-
1Loss-
TREX2p.T61M
Missense
SNP
0.206
NDND-
TRGV11p.P42Q
Missense
SNP
0.464
NDND-
TRH-
-
-
-
5Amp-
TRHR-
-
-
-
5Amp-
TRIB1-
-
-
-
4Gain-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM14-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM2-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
1Loss-
TRIM29-
-
-
-
3Gain-
TRIM3-
-
-
-
3Gain-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM4-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
5Amp-
TRIM44-
-
-
-
3Gain-
TRIM45-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM49-
-
-
-
3Gain-
TRIM49C-
-
-
-
3Gain-
TRIM49D1-
-
-
-
3Gain-
TRIM49D2-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM51-
-
-
-
3Gain-
TRIM52-
-
-
-
1Loss-
TRIM55-
-
-
-
5Amp-
TRIM56-
-
-
-
1Loss-
TRIM59-
-
-
-
3Gain-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM62-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM64B-
-
-
-
3Gain-
TRIM66-
-
-
-
3Gain-
TRIM67-
-
-
-
3Gain-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM75P-
-
-
-
1Loss-
TRIM77-
-
-
-
3Gain-
TRIM9-
-
-
-
3Gain-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
4Gain-
TRIOBP-
-
-
-
3Gain-
TRIP11-
-
-
-
3Gain-
TRIP13-
-
-
-
4Gain-
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
1Loss-
TRIQK-
-
-
-
5Amp-
TRIT1-
-
-
-
1Loss-
TRMOp.A374D
Missense
SNP
0.231
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT10C-
-
-
-
1Loss-
TRMT112-
-
-
-
3Gain-
TRMT12-
-
-
-
4Gain-
TRMT13-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMT5-
-
-
-
3Gain-
TRMT6-
-
-
-
3Gain-
TRMT61A-
-
-
-
3Gain-
TRMT9B-
-
-
-
1Loss-
TRMU-
-
-
-
3Gain-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
5Amp-
TRPC1-
-
-
-
5Amp-
TRPC3-
-
-
-
1Loss-
TRPC4-
-
-
-
1Loss-
TRPC4AP-
-
-
-
1Loss-
TRPC6-
-
-
-
3Gain-
TRPC7-
-
-
-
1Loss-
TRPM2-
-
-
-
1Loss-
TRPM3-
-
-
-
3Gain-
TRPM4-
-
-
-
3Gain-
TRPM6-
-
-
-
3Gain-
TRPS1p.G621Efs*19
Frame_Shift_Del
DEL
0.654
5Amp-
TRPT1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV5-
-
-
-
1Loss-
TRPV6-
-
-
-
1Loss-
TRRAP-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSC22D4-
-
-
-
1Loss-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSEN34-
-
-
-
3Gain-
TSG101-
-
-
-
3Gain-
TSGA10IP-
-
-
-
3Gain-
TSGA13-
-
-
-
1Loss-
TSHB-
-
-
-
1Loss-
TSHR-
-
-
-
3Gain-
TSHZ1-
-
-
-
3Gain-
TSHZ2-
-
-
-
1Loss-
TSHZ3-
-
-
-
1Loss-
TSKS-
-
-
-
3Gain-
TSKU-
-
-
-
3Gain-
TSLP-
-
-
-
1Loss-
TSNARE1-
-
-
-
4Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN1-
-
-
-
1Loss-
TSPAN12-
-
-
-
1Loss-
TSPAN13-
-
-
-
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN18-
-
-
-
3Gain-
TSPAN2-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSPO-
-
-
-
3Gain-
TSPYL5-
-
-
-
5Amp-
TSR1-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
-
-
3Gain-
TSSK3-
-
-
-
1Loss-
TSSK4-
-
-
-
3Gain-
TST-
-
-
-
3Gain-
TSTA3-
-
-
-
4Gain-
TSTD1-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC14-
-
-
-
5Amp-
TTC17-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
4Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
1Loss-
TTC28-
-
-
-
3Gain-
TTC29-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC33-
-
-
-
4Gain-
TTC34-
-
-
-
1Loss-
TTC36-
-
-
-
3Gain-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
3Gain-
TTC39A-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC39C-
-
-
-
3Gain-
TTC4-
-
-
-
1Loss-
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
3Gain-
TTC7B-
-
-
-
3Gain-
TTC8-
-
-
-
3Gain-
TTC9-
-
-
-
3Gain-
TTC9C-
-
-
-
3Gain-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTLL1-
-
-
-
3Gain-
TTLL10-
-
-
-
1Loss-
TTLL12-
-
-
-
3Gain-
TTLL13P-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL5-
-
-
-
3Gain-
TTLL7-
-
-
-
1Loss-
TTLL8-
-
-
-
3Gain-
TTLL9-
-
-
-
3Gain-
TTPA-
-
-
-
5Amp-
TTPAL-
-
-
-
1Loss-
TTR-
-
-
-
6Amp-
TTYH1-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
3Gain-
TUBA3C-
-
-
-
1Loss-
TUBA8-
-
-
-
3Gain-
TUBB1-
-
-
-
1Loss-
TUBB6-
-
-
-
5Amp-
TUBGCP3-
-
-
-
1Loss-
TUBGCP6-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TULP2-
-
-
-
3Gain-
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT1-
-
-
-
3Gain-
TUT4-
-
-
-
1Loss-
TUT7-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXK-
-
-
-
1Loss-
TXLNA-
-
-
-
1Loss-
TXN2-
-
-
-
3Gain-
TXNDC12-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
3Gain-
TXNDC17-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TXNRD3-
-
-
-
1Loss-
TYMP-
-
-
-
3Gain-
TYMS-
-
-
-
4Gain-
TYR-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
U2AF1-
-
-
-
1Loss-
U2AF1L4-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2SURP-
-
-
-
6Amp-
UACA-
-
-
-
1Loss-
UAP1-
-
-
-
3Gain-
UBA2-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
5Amp-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBAP1-
-
-
-
8Amp-
UBAP1L-
-
-
-
3Gain-
UBAP2-
-
-
-
8Amp-
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
1Loss-
UBASH3B-
-
-
-
3Gain-
UBB-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2H-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2QL1-
-
-
-
4Gain-
UBE2R2-
-
-
-
8Amp-
UBE2T-
-
-
-
3Gain-
UBE2U-
-
-
-
1Loss-
UBE2V1-
-
-
-
1Loss-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
5Amp-
UBE3C-
-
-
-
1Loss-
UBE4A-
-
-
-
3Gain-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBL4B-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
1Loss-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR4-
-
-
-
1Loss-
UBR5-
-
-
-
5Amp-
UBR7-
-
-
-
3Gain-
UBTD2-
-
-
-
1Loss-
UBTFL1-
-
-
-
3Gain-
UBXN1-
-
-
-
3Gain-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2B-
-
-
-
5Amp-
UBXN7-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UCP2-
-
-
-
3Gain-
UCP3-
-
-
-
3Gain-
UEVLD-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
3Gain-
UFM1-
-
-
-
1Loss-
UFSP1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
4Gain-
UGT3A2-
-
-
-
4Gain-
UGT8-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMODL1-
-
-
-
1Loss-
UMPS-
-
-
-
1Loss-
UNC13B-
-
-
-
8Amp-
UNC45A-
-
-
-
1Loss-
UNC5A-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
3Gain-
UNC93B1-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UPB1-
-
-
-
3Gain-
UPF3A-
-
-
-
1Loss-
UPK1A-
-
-
-
1Loss-
UPK1B-
-
-
-
1Loss-
UPK2-
-
-
-
3Gain-
UPK3A-
-
-
-
3Gain-
UPK3B-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
3Gain-
UQCC1-
-
-
-
1Loss-
UQCC3-
-
-
-
3Gain-
UQCR10-
-
-
-
3Gain-
UQCRB-
-
-
-
5Amp-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRH-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URI1-
-
-
-
1Loss-
UROC1-
-
-
-
1Loss-
UROD-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USF2-
-
-
-
1Loss-
USF3-
-
-
-
1Loss-
USH1C-
-
-
-
3Gain-
USH2Ap.A1617T
Missense
SNP
0.466
3Gain-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP12-
-
-
-
1Loss-
USP13-
-
-
-
5Amp-
USP14-
-
-
-
4Gain-
USP16-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP17L17-
-
-
-
1Loss-
USP17L18-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP18-
-
-
-
3Gain-
USP19-
-
-
-
1Loss-
USP2-
-
-
-
3Gain-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP24-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP28-
-
-
-
3Gain-
USP3-
-
-
-
3Gain-
USP33-
-
-
-
1Loss-
USP35-
-
-
-
3Gain-
USP38-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP41-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP47-
-
-
-
3Gain-
USP48-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UTP11-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP23-
-
-
-
5Amp-
UTP25-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
UTS2B-
-
-
-
1Loss-
UVRAG-
-
-
-
3Gain-
UVSSA-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL1-
-
-
-
1Loss-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
1Loss-
VASH1-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VAV3-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCP-
-
-
-
8Amp-
VCPIP1-
-
-
-
5Amp-
VCPKMT-
-
-
-
3Gain-
VDAC1-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VEGFB-
-
-
-
3Gain-
VEGFC-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VGF-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VILL-
-
-
-
1Loss-
VIPAS39-
-
-
-
3Gain-
VIPR1-
-
-
-
1Loss-
VIPR2-
-
-
-
1Loss-
VIRMA-
-
-
-
5Amp-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
3Gain-
VPS13A-
-
-
-
3Gain-
VPS13B-
-
-
-
5Amp-
VPS13C-
-
-
-
3Gain-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS26B-
-
-
-
3Gain-
VPS26C-
-
-
-
1Loss-
VPS28-
-
-
-
4Gain-
VPS33B-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37C-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
5Amp-
VPS50-
-
-
-
1Loss-
VPS51-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VRK1-
-
-
-
3Gain-
VRK3-
-
-
-
3Gain-
VRTN-
-
-
-
3Gain-
VSIG10L2-
-
-
-
3Gain-
VSIG2-
-
-
-
3Gain-
VSIG8-
-
-
-
3Gain-
VSTM1-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2B-
-
-
-
1Loss-
VSTM2L-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
3Gain-
VSX1-
-
-
-
3Gain-
VSX2-
-
-
-
3Gain-
VTCN1-
-
-
-
1Loss-
VTI1B-
-
-
-
3Gain-
VWA1-
-
-
-
1Loss-
VWA5A-
-
-
-
3Gain-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
VWC2-
-
-
-
3Gain-
VWCE-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VXN-
-
-
-
5Amp-
WARS-
-
-
-
3Gain-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC5-
-
-
-
4Gain-
WASL-
-
-
-
1Loss-
WBP2NL-
-
-
-
3Gain-
WBP4-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
3Gain-
WDR1-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR20-
-
-
-
3Gain-
WDR25-
-
-
-
3Gain-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR4-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR47-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49p.Y400F
Missense
SNP
0.598
3Gain-
WDR53-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR60-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR63-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
4Gain-
WDR73-
-
-
-
1Loss-
WDR74-
-
-
-
3Gain-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR86-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR89-
-
-
-
3Gain-
WDR91-
-
-
-
1Loss-
WDR93-
-
-
-
1Loss-
WDR97-
-
-
-
4Gain-
WDTC1-
-
-
-
1Loss-
WDYHV1-
-
-
-
5Amp-
WEE1-
-
-
-
3Gain-
WEE2-
-
-
-
1Loss-
WFDC10A-
-
-
-
1Loss-
WFDC10B-
-
-
-
1Loss-
WFDC11-
-
-
-
1Loss-
WFDC12-
-
-
-
1Loss-
WFDC13-
-
-
-
1Loss-
WFDC2-
-
-
-
1Loss-
WFDC3-
-
-
-
1Loss-
WFDC5-
-
-
-
1Loss-
WFDC6-
-
-
-
1Loss-
WFDC8-
-
-
-
1Loss-
WFDC9-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
1Loss-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
4Gain-
WISP2-
-
-
-
1Loss-
WLS-
-
-
-
1Loss-
WNK2-
-
-
-
3Gain-
WNT11-
-
-
-
3Gain-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT2B-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
3Gain-
WNT8A-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WT1-
-
-
-
3Gain-
WTIP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWP1-
-
-
-
5Amp-
WWTR1-
-
-
-
3Gain-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR3-
-
-
-
3Gain-
XKR4-
-
-
-
3Gain-
XKR6-
-
-
-
1Loss-
XKR7-
-
-
-
3Gain-
XKR8-
-
-
-
1Loss-
XKR9-
-
-
-
5Amp-
XPA-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPNPEP3-
-
-
-
3Gain-
XPO4-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
1Loss-
XRCC3-
-
-
-
3Gain-
XRCC4-
-
-
-
1Loss-
XRCC6-
-
-
-
3Gain-
XRN1-
-
-
-
5Amp-
XRN2-
-
-
-
3Gain-
XRRA1-
-
-
-
3Gain-
XXYLT1-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YAP1-
-
-
-
3Gain-
YARS-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YBX1-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YEATS2-
-
-
-
6Amp-
YES1-
-
-
-
4Gain-
YIF1A-
-
-
-
3Gain-
YIPF1-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YLPM1-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
3Gain-
YPEL4-
-
-
-
3Gain-
YRDC-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF1-
-
-
-
1Loss-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
5Amp-
YWHAB-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
3Gain-
YWHAZ-
-
-
-
5Amp-
YY1-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
Z84492.1-
-
-
-
1Loss-
Z98752.3-
-
-
-
1Loss-
ZADH2-
-
-
-
3Gain-
ZAN-
-
-
-
1Loss-
ZAR1-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED4-
-
-
-
3Gain-
ZBED5-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBP1-
-
-
-
1Loss-
ZBTB1-
-
-
-
3Gain-
ZBTB10-
-
-
-
5Amp-
ZBTB11-
-
-
-
1Loss-
ZBTB16-
-
-
-
3Gain-
ZBTB17-
-
-
-
1Loss-
ZBTB20-
-
-
-
1Loss-
ZBTB21-
-
-
-
1Loss-
ZBTB25-
-
-
-
3Gain-
ZBTB3-
-
-
-
3Gain-
ZBTB32-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB38-
-
-
-
5Amp-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
3Gain-
ZBTB44-
-
-
-
3Gain-
ZBTB46-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
1Loss-
ZBTB8B-
-
-
-
1Loss-
ZBTB8OS-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
5Amp-
ZC2HC1C-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H12A-
-
-
-
1Loss-
ZC3H12Cp.K132N
Missense
SNP
0.441
3Gain-
ZC3H13-
-
-
-
1Loss-
ZC3H14-
-
-
-
3Gain-
ZC3H3-
-
-
-
4Gain-
ZC3H7B-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
1Loss-
ZC3HAV1L-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCCHC10-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC2-
-
-
-
3Gain-
ZCCHC3-
-
-
-
3Gain-
ZCCHC4-
-
-
-
1Loss-
ZCCHC7-
-
-
-
3Gain-
ZCCHC9-
-
-
-
1Loss-
ZCWPW1-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
4Gain-
ZDHHC11B-
-
-
-
4Gain-
ZDHHC13-
-
-
-
3Gain-
ZDHHC18-
-
-
-
1Loss-
ZDHHC19-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC20-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
3Gain-
ZDHHC23-
-
-
-
1Loss-
ZDHHC24-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5-
-
-
-
3Gain-
ZDHHC8-
-
-
-
3Gain-
ZFAND1-
-
-
-
5Amp-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFAND5-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFAT-
-
-
-
4Gain-
ZFHX2-
-
-
-
3Gain-
ZFHX4-
-
-
-
5Amp-
ZFP2-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP36L1-
-
-
-
3Gain-
ZFP41-
-
-
-
4Gain-
ZFP42-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP64-
-
-
-
1Loss-
ZFP69-
-
-
-
1Loss-
ZFP69B-
-
-
-
1Loss-
ZFP91-
-
-
-
3Gain-
ZFP91-CNTF-
-
-
-
3Gain-
ZFPL1-
-
-
-
3Gain-
ZFPM2-
-
-
-
5Amp-
ZFR-
-
-
-
4Gain-
ZFYVE1-
-
-
-
3Gain-
ZFYVE16-
-
-
-
1Loss-
ZFYVE21-
-
-
-
3Gain-
ZFYVE26-
-
-
-
3Gain-
ZFYVE28-
-
-
-
1Loss-
ZFYVE9-
-
-
-
1Loss-
ZGPAT-
-
-
-
1Loss-
ZGRF1-
-
-
-
1Loss-
ZHX1-
-
-
-
5Amp-
ZHX1-C8orf76-
-
-
-
5Amp-
ZHX2-
-
-
-
5Amp-
ZHX3-
-
-
-
1Loss-
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5-
-
-
-
1Loss-
ZKSCAN1-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT3-
-
-
-
5Amp-
ZMAT4-
-
-
-
5Amp-
ZMAT5-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
1Loss-
ZMYM1-
-
-
-
1Loss-
ZMYM2-
-
-
-
1Loss-
ZMYM4-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYM6-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND12-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF131-
-
-
-
4Gain-
ZNF133-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF14-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF143-
-
-
-
3Gain-
ZNF148-
-
-
-
1Loss-
ZNF16-
-
-
-
4Gain-
ZNF160-
-
-
-
3Gain-
ZNF169-
-
-
-
3Gain-
ZNF175-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF185p.G698D
Missense
SNP
0.538
NDND-
ZNF189-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF202-
-
-
-
3Gain-
ZNF208p.G44Vfs*9
Frame_Shift_Del
DEL
0.944
1Loss-
ZNF212-
-
-
-
1Loss-
ZNF214-
-
-
-
3Gain-
ZNF215-
-
-
-
3Gain-
ZNF217-
-
-
-
1Loss-
ZNF219-
-
-
-
3Gain-
ZNF22-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
3Gain-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
3Gain-
ZNF250-
-
-
-
4Gain-
ZNF251-
-
-
-
4Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
1Loss-
ZNF28-
-
-
-
3Gain-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280Cp.E296K
Missense
SNP
0.677
NDND-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
1Loss-
ZNF284p.K5R
Missense
SNP
0.639
2--
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF3-
-
-
-
1Loss-
ZNF30-
-
-
-
1Loss-
ZNF300-
-
-
-
1Loss-
ZNF302-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF32-
-
-
-
1Loss-
ZNF320-
-
-
-
3Gain-
ZNF326-
-
-
-
1Loss-
ZNF330-
-
-
-
1Loss-
ZNF331-
-
-
-
3Gain-
ZNF334-
-
-
-
1Loss-
ZNF335-
-
-
-
1Loss-
ZNF337-
-
-
-
3Gain-
ZNF33B-
-
-
-
1Loss-
ZNF34-
-
-
-
4Gain-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF346-
-
-
-
1Loss-
ZNF347-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF350-
-
-
-
3Gain-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF362-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF394-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF398-
-
-
-
1Loss-
ZNF407-
-
-
-
3Gain-
ZNF408-
-
-
-
3Gain-
ZNF410-
-
-
-
3Gain-
ZNF415-
-
-
-
3Gain-
ZNF425-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
3Gain-
ZNF436-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF462-
-
-
-
3Gain-
ZNF467-
-
-
-
1Loss-
ZNF468-
-
-
-
3Gain-
ZNF473-
-
-
-
3Gain-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF480-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF485-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF507-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF512B-
-
-
-
1Loss-
ZNF516-
-
-
-
3Gain-
ZNF517-
-
-
-
4Gain-
ZNF518A-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF519-
-
-
-
5Amp-
ZNF521-
-
-
-
3Gain-
ZNF525-
-
-
-
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF532-
-
-
-
1Loss-
ZNF534-
-
-
-
3Gain-
ZNF536-
-
-
-
1Loss-
ZNF554p.S19P
Missense
SNP
0.233
2--
ZNF572-
-
-
-
4Gain-
ZNF577-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF598p.E329K
Missense
SNP
0.770
2--
ZNF599-
-
-
-
1Loss-
ZNF600-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
3Gain-
ZNF610-
-
-
-
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF613-
-
-
-
3Gain-
ZNF614-
-
-
-
3Gain-
ZNF615-
-
-
-
3Gain-
ZNF616-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
4Gain-
ZNF623-
-
-
-
4Gain-
ZNF624-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF639-
-
-
-
5Amp-
ZNF644-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF649-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF655-
-
-
-
1Loss-
ZNF658-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF665-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF684-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF691-
-
-
-
1Loss-
ZNF696-
-
-
-
4Gain-
ZNF697-
-
-
-
1Loss-
ZNF7-
-
-
-
4Gain-
ZNF70-
-
-
-
3Gain-
ZNF701-
-
-
-
3Gain-
ZNF703-
-
-
-
3Gain-
ZNF704-
-
-
-
5Amp-
ZNF706-
-
-
-
5Amp-
ZNF707-
-
-
-
4Gain-
ZNF708-
-
-
-
1Loss-
ZNF710-
-
-
-
1Loss-
ZNF713-
-
-
-
3Gain-
ZNF714-
-
-
-
1Loss-
ZNF716-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721p.T626M
Missense
SNP
1.000
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
1Loss-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF766-
-
-
-
3Gain-
ZNF774-
-
-
-
1Loss-
ZNF775-
-
-
-
1Loss-
ZNF777-
-
-
-
1Loss-
ZNF782-
-
-
-
3Gain-
ZNF783-
-
-
-
1Loss-
ZNF786-
-
-
-
1Loss-
ZNF789-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF80-
-
-
-
1Loss-
ZNF800-
-
-
-
1Loss-
ZNF804B-
-
-
-
1Loss-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF827-
-
-
-
1Loss-
ZNF83-
-
-
-
3Gain-
ZNF831-
-
-
-
1Loss-
ZNF836-
-
-
-
3Gain-
ZNF839-
-
-
-
3Gain-
ZNF841-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
1Loss-
ZNF862-
-
-
-
1Loss-
ZNF879-
-
-
-
1Loss-
ZNF880-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF92-
-
-
-
3Gain-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNFX1-
-
-
-
1Loss-
ZNHIT1-
-
-
-
1Loss-
ZNHIT2-
-
-
-
3Gain-
ZNHIT6-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
3Gain-
ZP1-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPLD1-
-
-
-
1Loss-
ZPR1-
-
-
-
3Gain-
ZRANB2-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN20-
-
-
-
1Loss-
ZSCAN21-
-
-
-
1Loss-
ZSCAN25-
-
-
-
1Loss-
ZSCAN30-
-
-
-
3Gain-
ZSWIM1-
-
-
-
1Loss-
ZSWIM3-
-
-
-
1Loss-
ZSWIM5-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZW10-
-
-
-
3Gain-
ZWILCH-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-
ZYG11A-
-
-
-
1Loss-
ZYG11B-
-
-
-
1Loss-
ZYX-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-