PDMR-479181~293-R~TG3U88VJ1-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AADAC-
-
-
-
1Loss-
AADACL2-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AAGAB-
-
-
-
3Gain-
AAMDC-
-
-
-
26Amp-
AANAT-
-
-
-
1Loss-
AARS2-
-
-
-
3Gain-
AARSD1-
-
-
-
1Loss-
AASDH-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
AATF-
-
-
-
1Loss-
AATK-
-
-
-
1Loss-
ABCA1-
-
-
-
3Gain-
ABCA10-
-
-
-
1Loss-
ABCA13-
-
-
-
3Gain-
ABCA2-
-
-
-
5Amp-
ABCA4-
-
-
-
1Loss-
ABCA5-
-
-
-
1Loss-
ABCA6-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCA8-
-
-
-
1Loss-
ABCA9-
-
-
-
1Loss-
ABCB1-
-
-
-
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB9-
-
-
-
1Loss-
ABCC10-
-
-
-
3Gain-
ABCC3-
-
-
-
1Loss-
ABCC5-
-
-
-
1Loss-
ABCC9-
-
-
-
1Loss-
ABCD3-
-
-
-
1Loss-
ABCF1-
-
-
-
1Loss-
ABCF3-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD10-
-
-
-
1Loss-
ABHD12-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD15-
-
-
-
1Loss-
ABHD16A-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI1-
-
-
-
8Amp-
ABI3-
-
-
-
1Loss-
ABI3BP-
-
-
-
1Loss-
ABL1-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABLIM2-
-
-
-
3Gain-
ABLIM3-
-
-
-
1Loss-
ABO-
-
-
-
3Gain-
ABR-
-
-
-
1Loss-
ABT1-
-
-
-
1Loss-
ABTB1-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002094.3-
-
-
-
1Loss-
AC002996.1-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004687.2-
-
-
-
1Loss-
AC004691.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005670.2-
-
-
-
1Loss-
AC005697.1-
-
-
-
1Loss-
AC005702.1-
-
-
-
1Loss-
AC005726.1-
-
-
-
1Loss-
AC005832.4-
-
-
-
14Amp-
AC005833.1-
-
-
-
14Amp-
AC005837.2-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
14Amp-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC009879.2-
-
-
-
1Loss-
AC009879.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011195.2-
-
-
-
1Loss-
AC011330.3-
-
-
-
3Gain-
AC011604.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
3Gain-
AC012531.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC013489.1-
-
-
-
3Gain-
AC013717.1-
-
-
-
1Loss-
AC015688.4-
-
-
-
1Loss-
AC015813.2-
-
-
-
1Loss-
AC018362.3-
-
-
-
3Gain-
AC018512.1-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
1Loss-
AC021660.3-
-
-
-
1Loss-
AC022335.1-
-
-
-
1Loss-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC026316.5-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
1Loss-
AC037459.1-
-
-
-
3Gain-
AC046185.1-
-
-
-
1Loss-
AC048338.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
3Gain-
AC068234.1-
-
-
-
1Loss-
AC068631.2-
-
-
-
1Loss-
AC068775.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
3Gain-
AC069257.3-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC069444.2-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC073508.2-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
1Loss-
AC083800.1-
-
-
-
1Loss-
AC087289.3-
-
-
-
1Loss-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
3Gain-
AC091057.6-
-
-
-
3Gain-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
3Gain-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097104.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099811.2-
-
-
-
1Loss-
AC099850.2-
-
-
-
1Loss-
AC100868.1-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
3Gain-
AC107871.1-
-
-
-
3Gain-
AC107959.5-
-
-
-
3Gain-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
3Gain-
AC112128.1-
-
-
-
1Loss-
AC112504.2-
-
-
-
1Loss-
AC113348.2-
-
-
-
1Loss-
AC113554.1-
-
-
-
1Loss-
AC116366.3-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC117457.1-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC119674.2-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
3Gain-
AC127029.3-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
1Loss-
AC134669.1-
-
-
-
1Loss-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
1Loss-
AC138696.1-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC139530.2-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACA-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
3Gain-
ACAD11-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
1Loss-
ACAP3-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD4-
-
-
-
1Loss-
ACBD5-
-
-
-
8Amp-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACE-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACKR4-
-
-
-
1Loss-
ACLY-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOT11-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
6Amp-
ACOX1-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
1Loss-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSBG1-
-
-
-
3Gain-
ACSF2-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS3-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
3Gain-
ACTG1-
-
-
-
1Loss-
ACTL6A-
-
-
-
1Loss-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
1Loss-
ACTR2p.A208T
Missense
SNP
0.381
2--
ACTR6-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACTRT3-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACY3-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
ADA-
-
-
-
6Amp-
ADA2-
-
-
-
1Loss-
ADAL-
-
-
-
3Gain-
ADAM10-
-
-
-
3Gain-
ADAM11-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
3Gain-
ADAM22-
-
-
-
3Gain-
ADAM28-
-
-
-
3Gain-
ADAM30-
-
-
-
1Loss-
ADAM32-
-
-
-
3Gain-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS1-
-
-
-
1Loss-
ADAMTS13-
-
-
-
3Gain-
ADAMTS17-
-
-
-
3Gain-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS5-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
3Gain-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
3Gain-
ADAMTSL3-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAP2-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADARB1-
-
-
-
1Loss-
ADARB2-
-
-
-
4Gain-
ADCK5-
-
-
-
1Loss-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY5-
-
-
-
1Loss-
ADCY8-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD1-
-
-
-
3Gain-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
3Gain-
ADGRA3-
-
-
-
3Gain-
ADGRB1-
-
-
-
1Loss-
ADGRB2-
-
-
-
1Loss-
ADGRB3p.R425Q
Missense
SNP
0.784
2--
ADGRD1-
-
-
-
1Loss-
ADGRD2-
-
-
-
3Gain-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5-
-
-
-
3Gain-
ADGRG7-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL3-
-
-
-
3Gain-
ADGRL4-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADHFE1-
-
-
-
1Loss-
ADIPOQ-
-
-
-
1Loss-
ADIPOR1-
-
-
-
3Gain-
ADIPOR2-
-
-
-
9Amp-
ADM2-
-
-
-
1Loss-
ADNP-
-
-
-
6Amp-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPGK-
-
-
-
3Gain-
ADPRH-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
3Gain-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRA2C-
-
-
-
3Gain-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
3Gain-
ADSL-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
ADTRP-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AEBP2-
-
-
-
1Loss-
AEN-
-
-
-
3Gain-
AFAP1-
-
-
-
3Gain-
AFAP1L1-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFMID-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGBL1-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGER-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGL-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
1Loss-
AGPAT1-
-
-
-
1Loss-
AGPAT2-
-
-
-
5Amp-
AGPAT3-
-
-
-
1Loss-
AGPAT5-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGT-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGTR1-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AHCTF1-
-
-
-
3GainRNA5-8SN2--AHCTF1
AHCYL1-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHDC1-
-
-
-
1Loss-
AHNAK-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHSG-
-
-
-
1Loss-
AICDA-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIF1-
-
-
-
1Loss-
AIF1L-
-
-
-
3Gain-
AIFM3-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIP-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AJAP1-
-
-
-
1Loss-
AJM1-
-
-
-
5Amp-
AK1-
-
-
-
3Gain-
AK3-
-
-
-
1Loss-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK8-
-
-
-
3Gain-
AKAP1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP13-
-
-
-
3Gain-
AKAP2-
-
-
-
3Gain-
AKAP3p.R599W
Missense
SNP
0.065
14Amp-
AKAP9-
-
-
-
3Gain-
AKNA-
-
-
-
3Gain-
AKNAD1-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
4Gain-
AKR1C2-
-
-
-
4Gain-
AKR1C3-
-
-
-
4Gain-
AKR1C4-
-
-
-
4Gain-
AKR1C8P-
-
-
-
4Gain-
AKR1E2-
-
-
-
4Gain-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AL020996.2-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL021997.3-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL024498.2-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL031777.3-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL080251.1-
-
-
-
1Loss-
AL096814.1-
-
-
-
13Amp-
AL109811.4-
-
-
-
1Loss-
AL117339.5-
-
-
-
5Amp-
AL117348.2-
-
-
-
3Gain-
AL121722.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL133410.3-
-
-
-
5Amp-
AL136531.2-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--USH1C
AL139099.4--LCN2
AL139142.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
3Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
5Amp-
AL162231.3-
-
-
-
5Amp-
AL162417.1-
-
-
-
3Gain-
AL353588.1-
-
-
-
3Gain-
AL355987.1-
-
-
-
5Amp-
AL355987.3-
-
-
-
5Amp-
AL357673.1-
-
-
-
1Loss-
AL358113.1-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365205.1-
-
-
-
8Amp-
AL445685.3-
-
-
-
1Loss-
AL449266.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL645922.1-
-
-
-
1Loss-
AL645941.2-
-
-
-
1Loss-
AL662899.1-
-
-
-
1Loss-
AL662899.2-
-
-
-
1Loss-
AL669918.1-
-
-
-
1Loss-
AL672142.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL807752.6-
-
-
-
5Amp-
AL807752.7-
-
-
-
5Amp-
AL929554.1-
-
-
-
5Amp-
ALAD-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALCAM-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH1B1-
-
-
-
3Gain-
ALDH1L1-
-
-
-
1Loss-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH5A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALDOB-
-
-
-
3Gain-
ALDOC-
-
-
-
1Loss-
ALG10-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALG14-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALG2-
-
-
-
3Gain-
ALG3-
-
-
-
1Loss-
ALG6-
-
-
-
1Loss-
ALG8-
-
-
-
7Amp-
ALKp.R1275Q
Missense
SNP
0.447
2--
ALKAL1-
-
-
-
1Loss-
ALKBH2-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
3Gain-
ALPL-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
ALYREF-
-
-
-
1Loss-
AMBP-
-
-
-
3Gain-
AMDHD1-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMOTL2-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ2-
-
-
-
1Loss-
ANAPC11-
-
-
-
1Loss-
ANAPC13-
-
-
-
1Loss-
ANAPC15-
-
-
-
1Loss-
ANAPC2-
-
-
-
5Amp-
ANAPC4-
-
-
-
3Gain-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPT2-
-
-
-
3Gain-
ANGPT4-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANGPTL3-
-
-
-
1Loss-
ANGPTL7-
-
-
-
1Loss-
ANHX-
-
-
-
1Loss-
ANK1-
-
-
-
3Gain-
ANKDD1A-
-
-
-
3Gain-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKFN1-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD13B-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD13D-
-
-
-
1Loss-
ANKRD16-
-
-
-
4Gain-
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
5Amp-
ANKRD26-
-
-
-
8Amp-
ANKRD28-
-
-
-
1Loss-
ANKRD30A-
-
-
-
5Amp-
ANKRD31-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD34Cp.E100*
Nonsense
SNP
0.051
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD40-
-
-
-
1Loss-
ANKRD42-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
1Loss-
ANKRD52-
-
-
-
3Gain-
ANKRD54-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD60-
-
-
-
7Amp-
ANKRD63-
-
-
-
3Gain-
ANKRD65-
-
-
-
3Gain-
ANKRD66-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS1A-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKS6-
-
-
-
3Gain-
ANKUB1-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO1-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANP32A-
-
-
-
3Gain-
ANP32B-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
3Gain-
ANXA1-
-
-
-
3Gain-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC2-
-
-
-
1Loss-
AOC3-
-
-
-
1Loss-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP2B1-
-
-
-
1Loss-
AP2M1-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
3Gain-
AP3M2-
-
-
-
3Gain-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
3Gain-
AP4E1-
-
-
-
3Gain-
AP5B1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBA1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APBB1IP-
-
-
-
8Amp-
APBB2-
-
-
-
3Gain-
APBB3p.R439H
Missense
SNP
0.636
1Loss-
APC-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1L-
-
-
-
7Amp-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APMAP-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC1-
-
-
-
1Loss-
APOBEC2-
-
-
-
8Amp-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOD-
-
-
-
1Loss-
APOF-
-
-
-
3Gain-
APOH-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APOM-
-
-
-
1Loss-
APP-
-
-
-
1Loss-
APPBP2-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APPL2-
-
-
-
3Gain-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
26Amp-
AQP3-
-
-
-
5Amp-
AQP7-
-
-
-
5Amp-
AQP9-
-
-
-
3Gain-
AQR-
-
-
-
3Gain-
ARAP1-
-
-
-
1Loss-
ARAP2-
-
-
-
3Gain-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
1Loss-
ARFGEF2-
-
-
-
6Amp-
ARGFX-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
3Gain-
ARHGAP12-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP23-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP27-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP31-
-
-
-
1Loss-
ARHGAP39-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIA-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF10-
-
-
-
3Gain-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF17-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF25-
-
-
-
1Loss-
ARHGEF26-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF33-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF39-
-
-
-
5Amp-
ARID1A-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
3Gain-
ARID3C-
-
-
-
5Amp-
ARID4B-
-
-
-
3Gain-
ARIH1-
-
-
-
3Gain-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL13B-
-
-
-
1Loss-
ARL14-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL16-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL4D-
-
-
-
1Loss-
ARL5B-
-
-
-
3Gain-
ARL5C-
-
-
-
1Loss-
ARL6-
-
-
-
1Loss-
ARL6IP4-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
3Gain-
ARMC1-
-
-
-
1Loss-
ARMC10-
-
-
-
3Gain-
ARMC12-
-
-
-
1Loss-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
8Amp-
ARMC7-
-
-
-
1Loss-
ARMC8-
-
-
-
1Loss-
ARMH2-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
3Gain-
ARNTL2-
-
-
-
1Loss-
ARPC3-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPC5L-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARPP21-
-
-
-
1Loss-
ARRB1-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC1-
-
-
-
5Amp-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
3Gain-
ARSA-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
1Loss-
ASAH1-
-
-
-
3Gain-
ASAP1-
-
-
-
1Loss-
ASAP3-
-
-
-
1Loss-
ASB13-
-
-
-
4Gain-
ASB14-
-
-
-
1Loss-
ASB15-
-
-
-
3Gain-
ASB16-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB3-
-
-
-
1Loss-
ASB4-
-
-
-
3Gain-
ASB6-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASCC2-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
3Gain-
ASIC2-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPH-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASPN-
-
-
-
3Gain-
ASPSCR1-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASS1-
-
-
-
3Gain-
ASTE1-
-
-
-
1Loss-
ASTN1-
-
-
-
3Gain-
ASTN2-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATAD5-
-
-
-
1Loss-
ATAT1-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATF6B-
-
-
-
1Loss-
ATF7IP-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG2Bp.R1036L
Missense
SNP
0.281
2--
ATG3-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATL3-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
3Gain-
ATP10B-
-
-
-
1Loss-
ATP10D-
-
-
-
3Gain-
ATP11B-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP13A3-
-
-
-
1Loss-
ATP13A4-
-
-
-
1Loss-
ATP13A5-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2B4-
-
-
-
3Gain-
ATP2C1-
-
-
-
1Loss-
ATP5F1A-
-
-
-
0Del-
ATP5F1B-
-
-
-
1Loss-
ATP5F1C-
-
-
-
4Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
7Amp-
ATP5IF1-
-
-
-
1Loss-
ATP5MC1-
-
-
-
1Loss-
ATP5MC2-
-
-
-
1Loss-
ATP5ME-
-
-
-
3Gain-
ATP5MGL-
-
-
-
1Loss-
ATP5PD-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1A-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
1Loss-
ATP6V1G2-DDX39B-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
1Loss-
ATP8A1-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B4-
-
-
-
3Gain-
ATP9A-
-
-
-
6Amp-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN1-
-
-
-
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN2-
-
-
-
3Gain-
ATXN7-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AUH-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AURKA-
-
-
-
6Amp-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AVEN-
-
-
-
3Gain-
AVIL-
-
-
-
1Loss-
AVL9-
-
-
-
3Gain-
AVP-
-
-
-
3Gain-
AVPR1A-
-
-
-
1Loss-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXIN2-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
3GainRNA5-8SN2--B2M
B3GALNT1-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT4-
-
-
-
1Loss-
B3GALT5-
-
-
-
1Loss-
B3GALT6-
-
-
-
3Gain-
B3GAT3-
-
-
-
1Loss-
B3GNT4-
-
-
-
1Loss-
B3GNT5-
-
-
-
1Loss-
B3GNT6-
-
-
-
1Loss-
B3GNTL1-
-
-
-
1Loss-
B4GALNT1-
-
-
-
1Loss-
B4GALNT2-
-
-
-
1Loss-
B4GALNT3-
-
-
-
4Gain-
B4GALT1-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT4-
-
-
-
1Loss-
B4GALT5-
-
-
-
6Amp-
B4GALT7-
-
-
-
1Loss-
B4GAT1-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
1Loss-
BAAT-
-
-
-
3Gain-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAG1-
-
-
-
3Gain-
BAG4-
-
-
-
3Gain-
BAG6-
-
-
-
1Loss-
BAHCC1-
-
-
-
1Loss-
BAHD1-
-
-
-
3Gain-
BAIAP2-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
1Loss-
BAK1-
-
-
-
1Loss-
BAMBI-
-
-
-
5Amp-
BANF1-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BAP1-
-
-
-
1Loss-
BARHL1-
-
-
-
3Gain-
BARHL2-
-
-
-
1Loss-
BARX1-
-
-
-
3Gain-
BATF2-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAZ2A-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS4-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR3-
-
-
-
1Loss-
BCAS1-
-
-
-
6Amp-
BCAS3-
-
-
-
1Loss-
BCAS4-
-
-
-
6Amp-
BCAT1-
-
-
-
1Loss-
BCHE-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
3Gain-
BCL2L10-
-
-
-
3Gain-
BCL2L13-
-
-
-
1Loss-
BCL2L14-
-
-
-
1Loss-
BCL6-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCR-
-
-
-
1Loss-
BDH1-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BECN1-
-
-
-
1Loss-
BEND4-
-
-
-
3Gain-
BEND7-
-
-
-
3Gain-
BEST1-
-
-
-
1Loss-
BEST3-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BFSP1-
-
-
-
3Gain-
BFSP2-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
1Loss-
BHLHE40-
-
-
-
1Loss-
BHLHE41-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BICDL1-
-
-
-
1Loss-
BICRAL-
-
-
-
13Amp-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN3-
-
-
-
3Gain-
BIRC5-
-
-
-
1Loss-
BLK-
-
-
-
3Gain-
BLM-
-
-
-
3Gain-
BLMH-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S4-
-
-
-
3Gain-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BLOC1S6-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMP1-
-
-
-
3Gain-
BMP2-
-
-
-
3Gain-
BMP6-
-
-
-
1Loss-
BMP7-
-
-
-
7Amp-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC1-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP2-
-
-
-
3Gain-
BNIP3L-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPHL-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BPNT1-
-
-
-
3Gain-
BPTF-
-
-
-
1Loss-
BRAFp.V600E
Missense
SNP
0.462
2--
BRAP-
-
-
-
3Gain-
BRCA1-
-
-
-
1Loss-
BRD1-
-
-
-
1Loss-
BRD2-
-
-
-
1Loss-
BRD3-
-
-
-
5Amp-
BRD8-
-
-
-
1Loss-
BRDT-
-
-
-
1Loss-
BRF2-
-
-
-
3Gain-
BRI3BP-
-
-
-
1Loss-
BRINP1-
-
-
-
3Gain-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIP1-
-
-
-
1Loss-
BRK1-
-
-
-
1Loss-
BRMS1-
-
-
-
1Loss-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
1Loss-
BRPF3-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSDC1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BST1-
-
-
-
3Gain-
BTBD1-
-
-
-
3Gain-
BTBD11-
-
-
-
3Gain-
BTBD17-
-
-
-
1Loss-
BTBD18-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD8-
-
-
-
1Loss-
BTBD9-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTG3-
-
-
-
1Loss-
BTLA-
-
-
-
1Loss-
BTN1A1-
-
-
-
1Loss-
BTN2A1-
-
-
-
1Loss-
BTN2A2-
-
-
-
1Loss-
BTN3A1-
-
-
-
1Loss-
BTN3A2-
-
-
-
1Loss-
BTN3A3-
-
-
-
1Loss-
BTNL2-
-
-
-
1Loss-
BUB1B-
-
-
-
3Gain-
BUB1B-PAK6-
-
-
-
3Gain-
BYSL-
-
-
-
8Amp-
BZW2-
-
-
-
3Gain-
C10orf113-
-
-
-
3Gain-
C10orf67-
-
-
-
3Gain-
C11orf24-
-
-
-
1Loss-
C11orf68-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf4-
-
-
-
14Amp-
C12orf42-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf65-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf41-
-
-
-
3Gain-
C15orf48-
-
-
-
3Gain-
C15orf53-
-
-
-
3Gain-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf47-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf53-
-
-
-
1Loss-
C17orf58-
-
-
-
1Loss-
C17orf64-
-
-
-
1Loss-
C17orf67-
-
-
-
1Loss-
C17orf75-
-
-
-
1Loss-
C17orf78-
-
-
-
1Loss-
C17orf80-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
1Loss-
C17orf99-
-
-
-
1Loss-
C18orf25-
-
-
-
0Del-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C1GALT1C1L-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf123-
-
-
-
1Loss-
C1orf127-
-
-
-
1Loss-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
3Gain-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf185-
-
-
-
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf52-
-
-
-
1Loss-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf87-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL1-
-
-
-
1Loss-
C1QL3-
-
-
-
3Gain-
C1QTNF1-
-
-
-
1Loss-
C1QTNF12-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1QTNF7-
-
-
-
3Gain-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C2-
-
-
-
1Loss-
C20orf141-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
7Amp-
C20orf96-
-
-
-
3Gain-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD5-
-
-
-
1Loss-
C2orf73-
-
-
-
1Loss-
C2orf91-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
1Loss-
C3orf30-
-
-
-
1Loss-
C3orf33-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf58-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
1Loss-
C3orf80-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf19-
-
-
-
3Gain-
C4orf48-
-
-
-
3Gain-
C4orf50-
-
-
-
3Gain-
C5-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6p.R145C
Missense
SNP
0.382
3Gain-
C6orf10-
-
-
-
1Loss-
C6orf106-
-
-
-
1Loss-
C6orf132-
-
-
-
13Amp-
C6orf136-
-
-
-
1Loss-
C6orf141-
-
-
-
1Loss-
C6orf15-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf222-
-
-
-
1Loss-
C6orf223-
-
-
-
3Gain-
C6orf226-
-
-
-
1Loss-
C6orf47-
-
-
-
1Loss-
C6orf48-
-
-
-
1Loss-
C6orf52-
-
-
-
1Loss-
C6orf62-
-
-
-
1Loss-
C6orf89-
-
-
-
1Loss-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8G-
-
-
-
5Amp-
C8orf33-
-
-
-
1Loss-
C8orf34-
-
-
-
1Loss-
C8orf37-
-
-
-
1Loss-
C8orf44-
-
-
-
1Loss-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf74-
-
-
-
3Gain-
C8orf82-
-
-
-
1Loss-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
1Loss-
C8orf89-
-
-
-
1Loss-
C9-
-
-
-
3Gain-
C9orf116-
-
-
-
5Amp-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
5Amp-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
5Amp-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
1Loss-
CA10-
-
-
-
1Loss-
CA12-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA4-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA8-
-
-
-
1Loss-
CA9-
-
-
-
5Amp-
CAAP1-
-
-
-
3Gain-
CABIN1-
-
-
-
1Loss-
CABP1-
-
-
-
1Loss-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CACFD1-
-
-
-
3Gain-
CACHD1-
-
-
-
1Loss-
CACNA1B-
-
-
-
5Amp-
CACNA1C-
-
-
-
9Amp-
CACNA1D-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA1G-
-
-
-
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNA2D4-
-
-
-
9Amp-
CACNB1-
-
-
-
1Loss-
CACNB2-
-
-
-
3Gain-
CACNG1-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CACNG4-
-
-
-
1Loss-
CACNG5-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CAGE1-
-
-
-
1Loss-
CALB1-
-
-
-
1Loss-
CALCOCO1-
-
-
-
1Loss-
CALCOCO2-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALM2-
-
-
-
1Loss-
CALML3-
-
-
-
4Gain-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
4Gain-
CALML6-
-
-
-
1Loss-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2N1-
-
-
-
1Loss-
CAMK2N2-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP1-
-
-
-
5Amp-
CAMSAP2-
-
-
-
3Gain-
CAMTA1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CANT1-
-
-
-
1Loss-
CAP2-
-
-
-
1Loss-
CAPN1-
-
-
-
1Loss-
CAPN11-
-
-
-
3Gain-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
3Gain-
CAPN5-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN2-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARD14-
-
-
-
1Loss-
CARD19-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARD9-
-
-
-
5Amp-
CARMIL1-
-
-
-
1Loss-
CARNMT1-
-
-
-
3Gain-
CARNS1-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC1-
-
-
-
1Loss-
CASC10-
-
-
-
3Gain-
CASC3-
-
-
-
1Loss-
CASC4-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASKIN2-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASR-
-
-
-
1Loss-
CASS4-
-
-
-
6Amp-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
1Loss-
CASZ1-
-
-
-
1Loss-
CATSPER1-
-
-
-
1Loss-
CATSPER2-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERZ-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
1Loss-
CAVIN1-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBLB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN4-
-
-
-
6Amp-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX1-
-
-
-
1Loss-
CBX2-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CBX4-
-
-
-
1Loss-
CBX5-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBX8-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CC2D1B-
-
-
-
1Loss-
CC2D2A-
-
-
-
3Gain-
CCAR2-
-
-
-
3Gain-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC103-
-
-
-
1Loss-
CCDC107-
-
-
-
5Amp-
CCDC112-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC137-
-
-
-
1Loss-
CCDC14-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC149-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC157-
-
-
-
1Loss-
CCDC166-
-
-
-
1Loss-
CCDC167-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC182-
-
-
-
1Loss-
CCDC183-
-
-
-
5Amp-
CCDC185-
-
-
-
3Gain-
CCDC188-
-
-
-
1Loss-
CCDC190-
-
-
-
3Gain-
CCDC191-
-
-
-
1Loss-
CCDC25-
-
-
-
3Gain-
CCDC27-
-
-
-
1Loss-
CCDC28B-
-
-
-
1Loss-
CCDC3-
-
-
-
3Gain-
CCDC32-
-
-
-
3Gain-
CCDC33-
-
-
-
3Gain-
CCDC36-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC39-
-
-
-
1Loss-
CCDC40-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC43-
-
-
-
1Loss-
CCDC47-
-
-
-
1Loss-
CCDC50-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
1Loss-
CCDC57-
-
-
-
1Loss-
CCDC58-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC7-
-
-
-
3Gain-
CCDC71-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC77-
-
-
-
4Gain-
CCDC80-
-
-
-
1Loss-
CCDC85A-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88A-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC90B-
-
-
-
0Del-
CCDC91-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCDC96-
-
-
-
3Gain-
CCDC9B-
-
-
-
3Gain-
CCER1-
-
-
-
1Loss-
CCHCR1-
-
-
-
1Loss-
CCIN-
-
-
-
5Amp-
CCK-
-
-
-
1Loss-
CCKAR-
-
-
-
3Gain-
CCL1-
-
-
-
1Loss-
CCL11-
-
-
-
1Loss-
CCL13-
-
-
-
1Loss-
CCL14-
-
-
-
1Loss-
CCL15-
-
-
-
1Loss-
CCL15-CCL14-
-
-
-
1Loss-
CCL16-
-
-
-
1Loss-
CCL18-
-
-
-
1Loss-
CCL19-
-
-
-
5Amp-
CCL2-
-
-
-
1Loss-
CCL21-
-
-
-
5Amp-
CCL23-
-
-
-
1Loss-
CCL27-
-
-
-
5Amp-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
1Loss-
CCL3L1-
-
-
-
1Loss-
CCL4-
-
-
-
1Loss-
CCL4L2-
-
-
-
1Loss-
CCL5-
-
-
-
1Loss-
CCL7-
-
-
-
1Loss-
CCL8-
-
-
-
1Loss-
CCM2-
-
-
-
3Gain-
CCNB1-
-
-
-
1Loss-
CCNB2-
-
-
-
3Gain-
CCND1-
-
-
-
1Loss-
CCND2-
-
-
-
14Amp-
CCND3-
-
-
-
13Amp-
CCNDBP1-
-
-
-
3Gain-
CCNE2-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNL1-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNO-
-
-
-
1Loss-
CCNY-
-
-
-
5Amp-
CCPG1-
-
-
-
3Gain-
CCR1-
-
-
-
1Loss-
CCR10-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR7-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCS-
-
-
-
1Loss-
CCSAP-
-
-
-
3Gain-
CCT2-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT6B-
-
-
-
1Loss-
CCT8-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD164L2-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD200-
-
-
-
1Loss-
CD200R1-
-
-
-
1Loss-
CD200R1L-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248-
-
-
-
1Loss-
CD27-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD276-
-
-
-
3Gain-
CD2AP-
-
-
-
3Gain-
CD300A-
-
-
-
1Loss-
CD300C-
-
-
-
1Loss-
CD300E-
-
-
-
1Loss-
CD300LB-
-
-
-
1Loss-
CD300LD-
-
-
-
1Loss-
CD300LF-
-
-
-
1Loss-
CD300LG-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD38-
-
-
-
3Gain-
CD4-
-
-
-
1Loss-
CD40-
-
-
-
6Amp-
CD46-
-
-
-
3Gain-
CD47-
-
-
-
1Loss-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
1Loss-
CD52-
-
-
-
1Loss-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD6-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD7-
-
-
-
1Loss-
CD72-
-
-
-
5Amp-
CD74-
-
-
-
1Loss-
CD79B-
-
-
-
1Loss-
CD80-
-
-
-
1Loss-
CD83-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD86-
-
-
-
1Loss-
CD9-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CD96-
-
-
-
1Loss-
CDA-
-
-
-
1Loss-
CDAN1-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC14A-
-
-
-
1Loss-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC26-
-
-
-
3Gain-
CDC27-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPG-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42EP4-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDC5L-
-
-
-
3Gain-
CDC6-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDC73p.R156C
Missense
SNP
0.569
3Gain-
CDCA2-
-
-
-
3Gain-
CDCA3-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
1Loss-
CDH17-
-
-
-
1Loss-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
6Amp-
CDH26-
-
-
-
7Amp-
CDH7-
-
-
-
1Loss-
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK12-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK17-
-
-
-
1Loss-
CDK18-
-
-
-
3Gain-
CDK2-
-
-
-
3Gain-
CDK20-
-
-
-
3Gain-
CDK2AP1-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK3-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5R1-
-
-
-
1Loss-
CDK5RAP2-
-
-
-
3Gain-
CDK5RAP3-
-
-
-
1Loss-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDK9-
-
-
-
3Gain-
CDKAL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN1A-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2C-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDO1-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDR2L-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDSN-
-
-
-
1Loss-
CDV3-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDYL-
-
-
-
1Loss-
CEBPB-
-
-
-
6Amp-
CECR2-
-
-
-
1Loss-
CEL-
-
-
-
3Gain-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF6-
-
-
-
3Gain-
CELSR1-
-
-
-
1Loss-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP-
-
-
-
3Gain-
CEMIP2-
-
-
-
3Gain-
CENPB-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPP-
-
-
-
3Gain-
CENPQ-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPX-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP112-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP131-
-
-
-
1Loss-
CEP135-
-
-
-
3Gain-
CEP152-
-
-
-
3Gain-
CEP170p.A384T
Missense
SNP
0.133
3Gain-
CEP19-
-
-
-
1Loss-
CEP290-
-
-
-
1Loss-
CEP295NL-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP63-
-
-
-
1Loss-
CEP70-
-
-
-
1Loss-
CEP76p.V443I
Missense
SNP
0.295
2--
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEP95-
-
-
-
1Loss-
CEP97-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERCAM-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CETN1-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP157-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP298-
-
-
-
1Loss-
CFAP36-
-
-
-
1Loss-
CFAP410-
-
-
-
1Loss-
CFAP44-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFAP73-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFAP77-
-
-
-
3Gain-
CFAP97D1-
-
-
-
1Loss-
CFAP99-
-
-
-
3Gain-
CFB-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFL1-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CHAC1-
-
-
-
3Gain-
CHAC2-
-
-
-
1Loss-
CHAD-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
1Loss-
CHCHD7-
-
-
-
1Loss-
CHD1-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
6Amp-
CHD7-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHIC2-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHKA-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHML-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHMP4C-
-
-
-
1Loss-
CHMP5-
-
-
-
5Amp-
CHMP6-
-
-
-
1Loss-
CHMP7-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHODL-
-
-
-
1Loss-
CHP1-
-
-
-
3Gain-
CHPT1-
-
-
-
1Loss-
CHRAC1-
-
-
-
1Loss-
CHRD-
-
-
-
1Loss-
CHRDL2-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
3Gain-
CHRM1-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
3Gain-
CHRNA2-
-
-
-
3Gain-
CHRNA3-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA6-
-
-
-
3Gain-
CHRNA7-
-
-
-
3Gain-
CHRNA9-
-
-
-
3Gain-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRNB4-
-
-
-
3Gain-
CHRNE-
-
-
-
1Loss-
CHST11-
-
-
-
3Gain-
CHST13-
-
-
-
1Loss-
CHST14-
-
-
-
3Gain-
CHST2-
-
-
-
1Loss-
CHSY1-
-
-
-
3Gain-
CHSY3-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CIDEC-
-
-
-
1Loss-
CILP-
-
-
-
3Gain-
CIP2A-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD3-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CIZ1-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCF1-
-
-
-
1Loss-
CLCN2-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
1Loss-
CLDN11-
-
-
-
1Loss-
CLDN12-
-
-
-
3Gain-
CLDN14-
-
-
-
1Loss-
CLDN16-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN18-
-
-
-
1Loss-
CLDN23-
-
-
-
3Gain-
CLDN5-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDND1-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLHC1-
-
-
-
1Loss-
CLIC1-
-
-
-
1Loss-
CLIC3-
-
-
-
5Amp-
CLIC4-
-
-
-
1Loss-
CLIC5-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
3Gain-
CLK4-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLN6-
-
-
-
3Gain-
CLN8-
-
-
-
3Gain-
CLNK-
-
-
-
5Amp-
CLNS1A-
-
-
-
26Amp-
CLOCK-
-
-
-
3Gain-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPS-
-
-
-
1Loss-
CLPSL1-
-
-
-
1Loss-
CLPSL2-
-
-
-
1Loss-
CLPX-
-
-
-
3Gain-
CLRN1-
-
-
-
1Loss-
CLRN2-
-
-
-
3Gain-
CLSTN1-
-
-
-
1Loss-
CLSTN2-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLTA-
-
-
-
5Amp-
CLTB-
-
-
-
1Loss-
CLTC-
-
-
-
1Loss-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS1-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMKLR1-
-
-
-
1Loss-
CMSS1-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR1-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD1-
-
-
-
1Loss-
CNBP-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA1-
-
-
-
3Gain-
CNIH2-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNOT7-
-
-
-
3Gain-
CNOT8-
-
-
-
1Loss-
CNP-
-
-
-
1Loss-
CNPY2-
-
-
-
3Gain-
CNPY3-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTD1-
-
-
-
1Loss-
CNTF-
-
-
-
1Loss-
CNTFR-
-
-
-
5Amp-
CNTLN-
-
-
-
1Loss-
CNTN1-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN3p.V646I
Missense
SNP
0.547
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN6p.W843*
Nonsense
SNP
0.327
1Loss-
CNTNAP1-
-
-
-
1Loss-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
3Gain-
CNTRL-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA3-
-
-
-
1Loss-
COA4-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COA7-
-
-
-
1Loss-
COASY-
-
-
-
1Loss-
COBL-
-
-
-
3Gain-
COG1-
-
-
-
1Loss-
COG2-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COIL-
-
-
-
1Loss-
COL11A1-
-
-
-
1Loss-
COL11A2-
-
-
-
1Loss-
COL15A1-
-
-
-
3Gain-
COL16A1-
-
-
-
1Loss-
COL18A1-
-
-
-
1Loss-
COL1A1-
-
-
-
1Loss-
COL1A2-
-
-
-
3Gain-
COL22A1p.A162T
Missense
SNP
0.422
1Loss-
COL23A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL5A1-
-
-
-
5Amp-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL6A5-
-
-
-
1Loss-
COL6A6-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
1Loss-
COLEC12-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
1Loss-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD4-
-
-
-
3Gain-
COMMD5-
-
-
-
1Loss-
COMMD8-
-
-
-
3Gain-
COMT-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB2-
-
-
-
1Loss-
COPG1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPRS-
-
-
-
1Loss-
COPS2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS5-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COPZ2-
-
-
-
1Loss-
COQ10A-
-
-
-
3Gain-
COQ4-
-
-
-
3Gain-
COQ5-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
CORIN-
-
-
-
3Gain-
CORO1B-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
CORO2A-
-
-
-
3Gain-
CORO2B-
-
-
-
3Gain-
CORO6-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX11-
-
-
-
1Loss-
COX17-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX5A-
-
-
-
3Gain-
COX6A1-
-
-
-
1Loss-
COX6C-
-
-
-
1Loss-
COX7A2L-
-
-
-
1Loss-
COX7B2-
-
-
-
3Gain-
COX7C-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
CP-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
1Loss-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
1Loss-
CPB1-
-
-
-
1Loss-
CPD-
-
-
-
1Loss-
CPEB1-
-
-
-
3Gain-
CPEB2-
-
-
-
3Gain-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE2-
-
-
-
1Loss-
CPLX1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPLX3-
-
-
-
3Gain-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN2-
-
-
-
1Loss-
CPNE4-
-
-
-
1Loss-
CPNE5-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPOX-
-
-
-
1Loss-
CPQ-
-
-
-
1Loss-
CPSF1-
-
-
-
1Loss-
CPSF4L-
-
-
-
1Loss-
CPSF6-
-
-
-
1Loss-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CPT2-
-
-
-
1Loss-
CPTP-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
3Gain-
CPZ-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
14Amp-
CRADD-
-
-
-
1Loss-
CRAT-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRB2-
-
-
-
3Gain-
CRBN-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
5Amp-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBL2-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CREM-
-
-
-
5Amp-
CRH-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRHR1-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIM1p.R431C
Missense
SNP
0.162
2--
CRIP3-
-
-
-
3Gain-
CRIPT-
-
-
-
1Loss-
CRISP1-
-
-
-
1Loss-
CRISP2-
-
-
-
1Loss-
CRISP3-
-
-
-
1Loss-
CRISPLD1-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLF3-
-
-
-
1Loss-
CRLS1-
-
-
-
3Gain-
CRMP1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRNN-
-
-
-
5Amp-
CROCC-
-
-
-
1Loss-
CROT-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
3Gain-
CRY1-
-
-
-
3Gain-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA1-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYBG3-
-
-
-
1Loss-
CRYGS-
-
-
-
1Loss-
CRYZ-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CS-
-
-
-
3Gain-
CSDC2-
-
-
-
1Loss-
CSE1L-
-
-
-
6Amp-
CSF1-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSF3-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
3Gain-
CSH1-
-
-
-
1Loss-
CSH2-
-
-
-
1Loss-
CSHL1-
-
-
-
1Loss-
CSK-
-
-
-
3Gain-
CSKMT-
-
-
-
1Loss-
CSMD1-
-
-
-
3Gain-
CSNK1A1-
-
-
-
1Loss-
CSNK1D-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSNK1G1-
-
-
-
3Gain-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2B-
-
-
-
1Loss-
CSPG4-
-
-
-
3Gain-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSRP2-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST6-
-
-
-
1Loss-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTA-
-
-
-
1Loss-
CSTB-
-
-
-
1Loss-
CSTF1-
-
-
-
6Amp-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
3Gain-
CTBP1-
-
-
-
3Gain-
CTBS-
-
-
-
1Loss-
CTC-260F20.3p.T118M
Missense
SNP
0.225
NDND-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
7Amp-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
3Gain-
CTH-
-
-
-
1Loss-
CTHRC1-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNND1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
6Amp-
CTSB-
-
-
-
3Gain-
CTSE-
-
-
-
3Gain-
CTSF-
-
-
-
1Loss-
CTSH-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTSW-
-
-
-
1Loss-
CTSZ-
-
-
-
7Amp-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTXN2-
-
-
-
3Gain-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
3Gain-
CUEDC1-
-
-
-
1Loss-
CUL2-
-
-
-
5Amp-
CUL7-
-
-
-
3Gain-
CUL9-
-
-
-
3Gain-
CUTA-
-
-
-
1Loss-
CUX2-
-
-
-
1Loss-
CWC25-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWH43-
-
-
-
3Gain-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561-
-
-
-
1Loss-
CYB561A3-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R3-
-
-
-
1Loss-
CYB5RL-
-
-
-
1Loss-
CYBC1-
-
-
-
1Loss-
CYC1-
-
-
-
1Loss-
CYCS-
-
-
-
3Gain-
CYFIP1-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
1Loss-
CYHR1-
-
-
-
1Loss-
CYLC2-
-
-
-
3Gain-
CYP11A1-
-
-
-
3Gain-
CYP11B1-
-
-
-
1Loss-
CYP11B2-
-
-
-
1Loss-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
6Amp-
CYP27B1-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2J2-
-
-
-
1Loss-
CYP39A1-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYSRT1-
-
-
-
5Amp-
CYSTM1-
-
-
-
1Loss-
CYTH1-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
CYTL1-
-
-
-
3Gain-
CYYR1-
-
-
-
1Loss-
DAB1-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DAB2IP-
-
-
-
3Gain-
DAG1-
-
-
-
1Loss-
DAGLA-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAO-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK1-
-
-
-
3Gain-
DAPK2-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DAXX-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBF4B-
-
-
-
1Loss-
DBH-
-
-
-
5Amp-
DBN1-
-
-
-
1Loss-
DBNDD2-
-
-
-
6Amp-
DBNL-
-
-
-
3Gain-
DBR1-
-
-
-
1Loss-
DBT-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
3Gain-
DCAF12-
-
-
-
5Amp-
DCAF13-
-
-
-
1Loss-
DCAF16-
-
-
-
3Gain-
DCAF4L1-
-
-
-
3Gain-
DCAF4L2-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF7-
-
-
-
1Loss-
DCAF8-
-
-
-
3Gain-
DCAKD-
-
-
-
1Loss-
DCANP1-
-
-
-
1Loss-
DCBLD2-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCD-
-
-
-
1Loss-
DCDC2-
-
-
-
1Loss-
DCDC2B-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCN-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP1B-
-
-
-
9Amp-
DCP2-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCTN3-
-
-
-
5Amp-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
3Gain-
DCUN1D1-
-
-
-
1Loss-
DCUN1D4-
-
-
-
3Gain-
DCXR-
-
-
-
1Loss-
DDAH1-
-
-
-
1Loss-
DDAH2-
-
-
-
1Loss-
DDB1-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDHD2-
-
-
-
3Gain-
DDI2-
-
-
-
1Loss-
DDIAS-
-
-
-
0Del-
DDIT3-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDR1-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX27-
-
-
-
6Amp-
DDX31-
-
-
-
3Gain-
DDX39B-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX42-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX5-
-
-
-
1Loss-
DDX52-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55-
-
-
-
1Loss-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DEC1-
-
-
-
3Gain-
DECR1-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEF6-
-
-
-
1Loss-
DEFA4-
-
-
-
3Gain-
DEFA5-
-
-
-
3Gain-
DEFA6-
-
-
-
3Gain-
DEFB1-
-
-
-
3Gain-
DEFB103A-
-
-
-
3Gain-
DEFB103B-
-
-
-
3Gain-
DEFB104A-
-
-
-
3Gain-
DEFB104B-
-
-
-
3Gain-
DEFB105A-
-
-
-
3Gain-
DEFB105B-
-
-
-
3Gain-
DEFB106A-
-
-
-
3Gain-
DEFB106B-
-
-
-
3Gain-
DEFB107A-
-
-
-
3Gain-
DEFB107B-
-
-
-
3Gain-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DEK-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND1A-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND3-
-
-
-
1Loss-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND5B-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DENR-
-
-
-
1Loss-
DEPDC1-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
3Gain-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGAT1-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKA-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKE-
-
-
-
1Loss-
DGKG-
-
-
-
1Loss-
DGKQ-
-
-
-
3Gain-
DHCR24-
-
-
-
1Loss-
DHCR7-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
1Loss-
DHRS11-
-
-
-
1Loss-
DHRS13-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHTKD1-
-
-
-
3Gain-
DHX15-
-
-
-
3Gain-
DHX16-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX36-
-
-
-
1Loss-
DHX37-
-
-
-
1Loss-
DHX40-
-
-
-
1Loss-
DHX57-
-
-
-
1Loss-
DHX58-
-
-
-
1Loss-
DHX8-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIABLO-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO1-
-
-
-
1Loss-
DIP2C-
-
-
-
3Gain-
DIRAS2-
-
-
-
3Gain-
DIRAS3-
-
-
-
1Loss-
DIRC2-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
3Gain-
DISP3-
-
-
-
1Loss-
DKK4-
-
-
-
3Gain-
DLC1-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP2-
-
-
-
3Gain-
DLK2-
-
-
-
3Gain-
DLL4-
-
-
-
3Gain-
DLX3-
-
-
-
1Loss-
DLX4-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMRTA2-
-
-
-
1Loss-
DMRTB1-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
3Gain-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH10p.S1560L
Missense
SNP
0.296
1Loss-
DNAH11-
-
-
-
3Gain-
DNAH12-
-
-
-
1Loss-
DNAH14-
-
-
-
3Gain-
DNAH17-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH8-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
5Amp-
DNAI2-
-
-
-
1Loss-
DNAJA1-
-
-
-
3Gain-
DNAJA4-
-
-
-
3Gain-
DNAJB11-
-
-
-
1Loss-
DNAJB13-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
5Amp-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC13-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
3Gain-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
1Loss-
DNAJC2-
-
-
-
3Gain-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC28-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC5B-
-
-
-
1Loss-
DNAJC6-
-
-
-
1Loss-
DNAJC7-
-
-
-
1Loss-
DNAJC8-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNLZ-
-
-
-
5Amp-
DNM1-
-
-
-
3Gain-
DNM1L-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMT3L-
-
-
-
1Loss-
DNPH1-
-
-
-
3Gain-
DNTTIP1-
-
-
-
6Amp-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
3Gain-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOK2-
-
-
-
3Gain-
DOK3-
-
-
-
1Loss-
DOK5-
-
-
-
6Amp-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
3Gain-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPH6-
-
-
-
3Gain-
DPH7-
-
-
-
5Amp-
DPM1-
-
-
-
6Amp-
DPM2-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP3-
-
-
-
1Loss-
DPP7-
-
-
-
5Amp-
DPP8-
-
-
-
3Gain-
DPPA2-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPPA4-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
1Loss-
DPY19L4-
-
-
-
1Loss-
DPYD-
-
-
-
1Loss-
DPYS-
-
-
-
1Loss-
DPYSL2-
-
-
-
3Gain-
DPYSL3-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRAP1-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD3-
-
-
-
1Loss-
DRD5-
-
-
-
3Gain-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSP-
-
-
-
1Loss-
DSTN-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTHD1-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNBP1-
-
-
-
1Loss-
DTWD1-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DTX3-
-
-
-
1Loss-
DTX3L-
-
-
-
1Loss-
DTX4-
-
-
-
1Loss-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1p.R411*
Nonsense
SNP
0.090
3Gain-
DUOXA2-
-
-
-
3Gain-
DUS1L-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP14-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP22-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP3-
-
-
-
1Loss-
DUSP4-
-
-
-
3Gain-
DUSP6-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUT-
-
-
-
3Gain-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
1Loss-
DXO-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
1Loss-
DYNLL1-
-
-
-
1Loss-
DYNLL2-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYRK2-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DYRK4-
-
-
-
14Amp-
DZANK1-
-
-
-
3Gain-
DZIP1L-
-
-
-
1Loss-
DZIP3-
-
-
-
1Loss-
E2F2-
-
-
-
1Loss-
E2F3-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
3Gain-
EBF4-
-
-
-
3Gain-
EBLN1-
-
-
-
3Gain-
EBLN2-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECE2-
-
-
-
1Loss-
ECHDC2-
-
-
-
1Loss-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDEM1-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDF1-
-
-
-
5Amp-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
1Loss-
EDN3-
-
-
-
7Amp-
EEA1-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
1Loss-
EEF1AKMT4-ECE2-
-
-
-
1Loss-
EEF1D-
-
-
-
1Loss-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EEFSEC-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB12-
-
-
-
1Loss-
EFCAB13-
-
-
-
1Loss-
EFCAB2-
-
-
-
3Gain-
EFCAB3-
-
-
-
1Loss-
EFCAB5-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFCAB7-
-
-
-
1Loss-
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
1Loss-
EFEMP1-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFHB-
-
-
-
1Loss-
EFHC1-
-
-
-
5Amp-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
1Loss-
EFTUD2-
-
-
-
1Loss-
EGFL7-
-
-
-
5Amp-
EGFL8-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
3Gain-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD4-
-
-
-
3Gain-
EHHADH-
-
-
-
1Loss-
EHMT1-
-
-
-
5Amp-
EHMT2-
-
-
-
1Loss-
EID1-
-
-
-
3Gain-
EID3-
-
-
-
3Gain-
EIF1-
-
-
-
1Loss-
EIF1AD-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
1Loss-
EIF2AK4-
-
-
-
3Gain-
EIF2B1-
-
-
-
1Loss-
EIF2B5-
-
-
-
1Loss-
EIF2D-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3I-
-
-
-
1Loss-
EIF3J-
-
-
-
3Gain-
EIF3L-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
1Loss-
EIF4A3-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL2-
-
-
-
3Gain-
ELAVL4-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELFN2-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELK4-
-
-
-
3Gain-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
6Amp-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOC-
-
-
-
1Loss-
ELOVL2-
-
-
-
1Loss-
ELOVL5-
-
-
-
3Gain-
ELOVL7-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP3-
-
-
-
3Gain-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC3-
-
-
-
1Loss-
EMC4-
-
-
-
3Gain-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
3Gain-
EME1-
-
-
-
1Loss-
EMG1-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN3-
-
-
-
6Amp-
EML3-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML6-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOG-
-
-
-
3Gain-
ENDOV-
-
-
-
1Loss-
ENG-
-
-
-
3Gain-
ENGASE-
-
-
-
1Loss-
ENHO-
-
-
-
5Amp-
ENKUR-
-
-
-
5Amp-
ENO1-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENPP4-
-
-
-
1Loss-
ENPP5-
-
-
-
1Loss-
ENPP7-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD2-
-
-
-
5Amp-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
3Gain-
ENTPD6-
-
-
-
3Gain-
ENTPD8-
-
-
-
5Amp-
ENTR1-
-
-
-
5Amp-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPAS1-
-
-
-
1Loss-
EPB41-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPB42-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPCAM-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
0Del-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA6-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB1-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHB3-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPHX4-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPN3-
-
-
-
1Loss-
EPOP-
-
-
-
1Loss-
EPPIN-
-
-
-
6Amp-
EPPIN-WFDC6-
-
-
-
6Amp-
EPPK1-
-
-
-
1Loss-
EPRS-
-
-
-
3Gain-
EPS15-
-
-
-
1Loss-
EPS8-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPX-
-
-
-
1Loss-
EPYC-
-
-
-
1Loss-
EQTN-
-
-
-
3Gain-
ERAL1-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB2-
-
-
-
1Loss-
ERBB3-
-
-
-
3Gain-
ERBIN-
-
-
-
1Loss-
ERC1-
-
-
-
4Gain-
ERC2-
-
-
-
1Loss-
ERCC6L2-
-
-
-
3Gain-
ERCC8-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERI1-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH3-
-
-
-
1Loss-
ERICH5-
-
-
-
1Loss-
ERICH6-
-
-
-
1Loss-
ERLEC1-
-
-
-
1Loss-
ERLIN2-
-
-
-
3Gain-
ERMP1-
-
-
-
1Loss-
ERN1-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERVFRD-1-
-
-
-
1Loss-
ERVMER34-1-
-
-
-
3Gain-
ESCO2-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESM1-
-
-
-
1Loss-
ESPL1-
-
-
-
0Del-
ESPN-
-
-
-
1Loss-
ESRP1-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESS2-
-
-
-
1Loss-
ESYT1-
-
-
-
3Gain-
ESYT3-
-
-
-
1Loss-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
3Gain-
ETFBKMT-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETS2-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV4-
-
-
-
1Loss-
ETV5-
-
-
-
1Loss-
ETV6-
-
-
-
1Loss-
ETV7-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVC-
-
-
-
3Gain-
EVC2-
-
-
-
3Gain-
EVI2A-
-
-
-
1Loss-
EVI2B-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVPL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
1Loss-
EXD1-
-
-
-
3Gain-
EXD3-
-
-
-
5Amp-
EXO1-
-
-
-
3Gain-
EXOC1-
-
-
-
3Gain-
EXOC1L-
-
-
-
3Gain-
EXOC2-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC7-
-
-
-
1Loss-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
3Gain-
EXOSC4-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXTL1-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
1Loss-
EYA2-
-
-
-
6Amp-
EYA3-
-
-
-
1Loss-
EYS-
-
-
-
3Gain-
EZH1-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F12-
-
-
-
1Loss-
F13A1-
-
-
-
1Loss-
F13B-
-
-
-
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FAAP100-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FABP12-
-
-
-
1Loss-
FABP3-
-
-
-
1Loss-
FABP4-
-
-
-
1Loss-
FABP5-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FABP9-
-
-
-
1Loss-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FADS6-
-
-
-
1Loss-
FAF1-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAH-
-
-
-
3Gain-
FAIM-
-
-
-
1Loss-
FAM102A-
-
-
-
3Gain-
FAM102B-
-
-
-
1Loss-
FAM104A-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM110A-
-
-
-
3Gain-
FAM110D-
-
-
-
1Loss-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A1-
-
-
-
3Gain-
FAM114A2-
-
-
-
1Loss-
FAM117A-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM120Cp.G991E
Missense
SNP
0.072
NDND-
FAM122A-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM129B-
-
-
-
3Gain-
FAM131A-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
3Gain-
FAM135B-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM151A-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM160B2-
-
-
-
3Gain-
FAM162A-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM163B-
-
-
-
3Gain-
FAM166A-
-
-
-
5Amp-
FAM166B-
-
-
-
5Amp-
FAM167A-
-
-
-
3Gain-
FAM167B-
-
-
-
1Loss-
FAM168A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
3Gain-
FAM170A-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM171A2-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM181B-
-
-
-
0Del-
FAM184B-
-
-
-
3Gain-
FAM187A-
-
-
-
1Loss-
FAM189A1-
-
-
-
3Gain-
FAM189A2-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193A-
-
-
-
3Gain-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM200B-
-
-
-
3Gain-
FAM205A-
-
-
-
5Amp-
FAM205C-
-
-
-
5Amp-
FAM206A-
-
-
-
3Gain-
FAM207A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
4Gain-
FAM209A-
-
-
-
6Amp-
FAM209B-
-
-
-
6Amp-
FAM20A-
-
-
-
1Loss-
FAM20B-
-
-
-
3Gain-
FAM210B-
-
-
-
6Amp-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
5Amp-
FAM216A-
-
-
-
1Loss-
FAM217A-
-
-
-
1Loss-
FAM217B-
-
-
-
7Amp-
FAM219A-
-
-
-
5Amp-
FAM219B-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
5Amp-
FAM222A-
-
-
-
1Loss-
FAM222B-
-
-
-
1Loss-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
3Gain-
FAM229A-
-
-
-
1Loss-
FAM234B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM50B-
-
-
-
1Loss-
FAM53A-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69B-
-
-
-
5Amp-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76A-
-
-
-
1Loss-
FAM78A-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83B-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
1Loss-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
3Gain-
FAM86C1-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
1Loss-
FAM8A1-
-
-
-
1Loss-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
1Loss-
FAM95C-
-
-
-
3Gain-
FAM98B-
-
-
-
3Gain-
FAN1-
-
-
-
3Gain-
FANCC-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCE-
-
-
-
1Loss-
FANCG-
-
-
-
5Amp-
FANCI-
-
-
-
3Gain-
FAR2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASN-
-
-
-
1Loss-
FASTKD5-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAT3p.R641*
Nonsense
SNP
0.256
2--
FAT4p.R1685*
Nonsense
SNP
0.313
2--
FAU-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBF1-
-
-
-
1Loss-
FBH1-
-
-
-
4Gain-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBN1-
-
-
-
3Gain-
FBN2-
-
-
-
1Loss-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBXL14-
-
-
-
9Amp-
FBXL17-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
1Loss-
FBXL22-
-
-
-
3Gain-
FBXL5-
-
-
-
3Gain-
FBXL6-
-
-
-
1Loss-
FBXO10-
-
-
-
3Gain-
FBXO11-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
3Gain-
FBXO2-
-
-
-
1Loss-
FBXO21-
-
-
-
3Gain-
FBXO22-
-
-
-
3Gain-
FBXO25-
-
-
-
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO40-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO45-
-
-
-
1Loss-
FBXO47-
-
-
-
1Loss-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXO9-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
3Gain-
FBXW5-
-
-
-
5Amp-
FBXW8-
-
-
-
3Gain-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGBP-
-
-
-
2-FCGBP--SNORD17
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCHSD2-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCN1-
-
-
-
5Amp-
FCN2-
-
-
-
5Amp-
FCN3-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDFT1-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDXR-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
3Gain-
FEM1C-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FERMT3-
-
-
-
1Loss-
FES-
-
-
-
3Gain-
FETUB-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
1Loss-
FGD2-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD4-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGD6-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
1Loss-
FGF17-
-
-
-
3Gain-
FGF18-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF20-
-
-
-
3Gain-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
14Amp-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF6-
-
-
-
14Amp-
FGF7-
-
-
-
3Gain-
FGFBP1-
-
-
-
3Gain-
FGFBP2-
-
-
-
3Gain-
FGFR1-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
1Loss-
FGFR3-
-
-
-
3Gain-
FGFR4-
-
-
-
1Loss-
FGFRL1-
-
-
-
3Gain-
FGGY-
-
-
-
1Loss-
FGL1-
-
-
-
3Gain-
FGR-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FIBCD1-
-
-
-
3Gain-
FIBP-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FILIP1L-
-
-
-
1Loss-
FIP1L1-
-
-
-
3Gain-
FITM2-
-
-
-
6Amp-
FKBP10-
-
-
-
1Loss-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP1C-
-
-
-
3Gain-
FKBP2-
-
-
-
1Loss-
FKBP4-
-
-
-
9Amp-
FKBP5-
-
-
-
1Loss-
FKBP9-
-
-
-
3Gain-
FKBPL-
-
-
-
1Loss-
FKTN-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
5Amp-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
1Loss-
FLOT2-
-
-
-
1Loss-
FLRT1-
-
-
-
1Loss-
FLRT3-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FMN1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMNL1-
-
-
-
1Loss-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FN3K-
-
-
-
1Loss-
FN3KRP-
-
-
-
1Loss-
FNBP1-
-
-
-
3Gain-
FNBP1L-
-
-
-
1Loss-
FNDC10-
-
-
-
3Gain-
FNDC3B-
-
-
-
1Loss-
FNDC7-
-
-
-
1Loss-
FNDC8-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTA-
-
-
-
3Gain-
FOCAD-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOXA2-
-
-
-
3Gain-
FOXB1-
-
-
-
3Gain-
FOXB2-
-
-
-
3Gain-
FOXC1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXD4L5-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXF2-
-
-
-
1Loss-
FOXH1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXJ1-
-
-
-
1Loss-
FOXJ2-
-
-
-
1Loss-
FOXK2-
-
-
-
1Loss-
FOXL2-
-
-
-
1Loss-
FOXL2NB-
-
-
-
1Loss-
FOXM1-
-
-
-
9Amp-
FOXN1-
-
-
-
1Loss-
FOXN2-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXP4-
-
-
-
8Amp-
FOXQ1-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGS-
-
-
-
3Gain-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD4A-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
3Gain-
FRMD8-
-
-
-
1Loss-
FRMPD1-
-
-
-
3Gain-
FRRS1-
-
-
-
1Loss-
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
1Loss-
FRS3-
-
-
-
8Amp-
FRYL-
-
-
-
3Gain-
FSBP-
-
-
-
1Loss-
FSCN2-
-
-
-
1Loss-
FSCN3-
-
-
-
3Gain-
FSD1L-
-
-
-
3Gain-
FSD2-
-
-
-
3Gain-
FSHR-
-
-
-
1Loss-
FSIP1-
-
-
-
3Gain-
FSTL1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FTH1-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTSJ3-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUBP3-
-
-
-
3Gain-
FUCA1-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUT10-
-
-
-
3Gain-
FUT7-
-
-
-
5Amp-
FXN-
-
-
-
3Gain-
FXR1-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYB2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
1Loss-
FZD1-
-
-
-
3Gain-
FZD10-
-
-
-
1Loss-
FZD2-
-
-
-
1Loss-
FZD3-
-
-
-
3Gain-
FZD6-
-
-
-
1Loss-
FZD8-
-
-
-
5Amp-
G0S2-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
G6PC-
-
-
-
1Loss-
G6PC3-
-
-
-
1Loss-
GAA-
-
-
-
1Loss-
GAB2-
-
-
-
7Amp-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABBR1-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPA-
-
-
-
1Loss-
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA2-
-
-
-
3Gain-
GABRA4-
-
-
-
3Gain-
GABRA5-
-
-
-
3Gain-
GABRA6-
-
-
-
1Loss-
GABRB1-
-
-
-
3Gain-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
3Gain-
GABRD-
-
-
-
1Loss-
GABRG1-
-
-
-
3Gain-
GABRG2-
-
-
-
1Loss-
GABRG3-
-
-
-
3Gain-
GABRP-
-
-
-
1Loss-
GABRR3-
-
-
-
1Loss-
GAD2-
-
-
-
8Amp-
GADD45A-
-
-
-
1Loss-
GADD45G-
-
-
-
3Gain-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
3Gain-
GAL-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GAL3ST3-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK1-
-
-
-
1Loss-
GALK2-
-
-
-
3Gain-
GALM-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALNT8-
-
-
-
14Amp-
GALR1-
-
-
-
1Loss-
GALR2-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GALT-
-
-
-
5Amp-
GAMT-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GANC-
-
-
-
3Gain-
GAP43-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAPVD1-
-
-
-
3Gain-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GART-
-
-
-
1Loss-
GAS1-
-
-
-
3Gain-
GAS2L1-
-
-
-
1Loss-
GAS2L2-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GAST-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATA3-
-
-
-
4Gain-
GATA4-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATC-
-
-
-
1Loss-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GATM-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
5Amp-
GBA3-
-
-
-
3Gain-
GBE1-
-
-
-
1Loss-
GBGT1-
-
-
-
3Gain-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCGR-
-
-
-
1Loss-
GCHFR-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCLC-
-
-
-
3Gain-
GCLM-
-
-
-
1Loss-
GCM1-
-
-
-
3Gain-
GCM2-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCNT1-
-
-
-
3Gain-
GCNT2-
-
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-
1Loss-
GCNT3-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
6Amp-
GCOM1-
-
-
-
3Gain-
GCSAM-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDA-
-
-
-
3Gain-
GDAP1-
-
-
-
1Loss-
GDAP1L1-
-
-
-
6Amp-
GDAP2-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF6-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
4Gain-
GDNF-
-
-
-
3Gain-
GDPD1-
-
-
-
1Loss-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
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-
1Loss-
GDPGP1-
-
-
-
3Gain-
GEM-
-
-
-
1Loss-
GEMIN4-
-
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-
1Loss-
GEMIN5-
-
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-
1Loss-
GEMIN6-
-
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-
1Loss-
GFAP-
-
-
-
1Loss-
GFI1-
-
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-
1Loss-
GFI1B-
-
-
-
3Gain-
GFM1-
-
-
-
1Loss-
GFM2-
-
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-
1Loss-
GFOD1-
-
-
-
1Loss-
GFRA2-
-
-
-
3Gain-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFRAL-
-
-
-
3Gain-
GGA1-
-
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-
1Loss-
GGA3-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
1Loss-
GGNBP2-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
1Loss-
GH1-
-
-
-
1Loss-
GH2-
-
-
-
1Loss-
GHDC-
-
-
-
1Loss-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GIF-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GIP-
-
-
-
1Loss-
GIPC2-
-
-
-
1Loss-
GIT1-
-
-
-
1Loss-
GIT2-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC1-
-
-
-
1Loss-
GJC2-
-
-
-
3Gain-
GJD2-
-
-
-
3Gain-
GJD3-
-
-
-
1Loss-
GJD4-
-
-
-
5Amp-
GK5-
-
-
-
1Loss-
GKAP1-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
3Gain-
GLE1-
-
-
-
3Gain-
GLI1-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
1Loss-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLIPR2-
-
-
-
5Amp-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLO1-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP1R-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
1Loss-
GLT6D1-
-
-
-
5Amp-
GLT8D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GLYATL3-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMDS-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GML-
-
-
-
1Loss-
GMNC-
-
-
-
1Loss-
GMNN-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPR-
-
-
-
1Loss-
GMPS-
-
-
-
1Loss-
GNA13-
-
-
-
1Loss-
GNA14-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAI3-
-
-
-
1Loss-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
7Amp-
GNAT1-
-
-
-
1Loss-
GNAT2-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
1Loss-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
1Loss-
GNB5-
-
-
-
3Gain-
GNE-
-
-
-
5Amp-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG12-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNGT2-
-
-
-
1Loss-
GNL1-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNMT-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
3Gain-
GNPTAB-
-
-
-
1Loss-
GNRH1-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNS-
-
-
-
1Loss-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA4-
-
-
-
1Loss-
GOLGA6A-
-
-
-
3Gain-
GOLGA6B-
-
-
-
3Gain-
GOLGA6C-
-
-
-
3Gain-
GOLGA6D-
-
-
-
3Gain-
GOLGA6L1-
-
-
-
3Gain-
GOLGA6L10-
-
-
-
3Gain-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
3Gain-
GOLGA7-
-
-
-
3Gain-
GOLGA8A-
-
-
-
3Gain-
GOLGA8B-
-
-
-
3Gain-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8H-
-
-
-
3Gain-
GOLGA8J-
-
-
-
3Gain-
GOLGA8K-
-
-
-
3Gain-
GOLGA8M-
-
-
-
3Gain-
GOLGA8R-
-
-
-
3Gain-
GOLGA8S-
-
-
-
3Gain-
GOLGA8T-
-
-
-
3Gain-
GOLGB1-
-
-
-
1Loss-
GOLIM4-
-
-
-
1Loss-
GOLM1-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GOLT1B-
-
-
-
1Loss-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOSR1-
-
-
-
1Loss-
GOSR2-
-
-
-
1Loss-
GOT1L1-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GP5-
-
-
-
1Loss-
GP9-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
1Loss-
GPANK1-
-
-
-
1Loss-
GPAT4-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH3-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPATCH8-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPCPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPHA2-
-
-
-
1Loss-
GPIHBP1-
-
-
-
1Loss-
GPLD1-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPN3-
-
-
-
1Loss-
GPNMB-
-
-
-
3Gain-
GPR107-
-
-
-
3Gain-
GPR137-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR142-
-
-
-
1Loss-
GPR149-
-
-
-
1Loss-
GPR15-
-
-
-
1Loss-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR152-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR156-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR158-
-
-
-
5Amp-
GPR160-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR17p.T236M
Missense
SNP
0.158
2--
GPR171-
-
-
-
1Loss-
GPR176-
-
-
-
3Gain-
GPR179-
-
-
-
1Loss-
GPR182-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR20-
-
-
-
1Loss-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR61-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR78-
-
-
-
3Gain-
GPR84-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
1Loss-
GPR88-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5C-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPS1-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM1-
-
-
-
5Amp-
GPSM2-
-
-
-
1Loss-
GPSM3-
-
-
-
1Loss-
GPT-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX5-
-
-
-
1Loss-
GPX6-
-
-
-
1Loss-
GPX7-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1C-
-
-
-
1Loss-
GRAMD2A-
-
-
-
3Gain-
GRAMD2B-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRB2-
-
-
-
1Loss-
GRB7-
-
-
-
1Loss-
GREM1-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
1Loss-
GRHL3-
-
-
-
1Loss-
GRHPR-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRIK1-
-
-
-
1Loss-
GRIN1-
-
-
-
5Amp-
GRIN2B-
-
-
-
1Loss-
GRIN2C-
-
-
-
1Loss-
GRIN3A-
-
-
-
3Gain-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
1Loss-
GRIP1-
-
-
-
1Loss-
GRIP2-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK4-
-
-
-
3Gain-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM4-
-
-
-
1Loss-
GRM6-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRN-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
3Gain-
GRPEL2-
-
-
-
1Loss-
GRXCR1-
-
-
-
3Gain-
GRXCR2-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMA-
-
-
-
1Loss-
GSDMB-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
1Loss-
GSDME-
-
-
-
3Gain-
GSG1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
1Loss-
GSN-
-
-
-
3Gain-
GSR-
-
-
-
3Gain-
GSTA1-
-
-
-
1Loss-
GSTA2-
-
-
-
1Loss-
GSTA3-
-
-
-
1Loss-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
1Loss-
GSTM1-
-
-
-
1Loss-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSX2-
-
-
-
3Gain-
GTF2A1L-
-
-
-
1Loss-
GTF2A2-
-
-
-
3Gain-
GTF2B-
-
-
-
1Loss-
GTF2E1-
-
-
-
1Loss-
GTF2E2-
-
-
-
3Gain-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF2H4-
-
-
-
1Loss-
GTF3C4-
-
-
-
3Gain-
GTF3C5-
-
-
-
3Gain-
GTPBP1-
-
-
-
1Loss-
GTPBP10-
-
-
-
3Gain-
GTPBP2-
-
-
-
3Gain-
GTPBP4-
-
-
-
4Gain-
GTPBP8-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GTSF1-
-
-
-
1Loss-
GTSF1L-
-
-
-
6Amp-
GUCA1A-
-
-
-
13Amp-
GUCA1B-
-
-
-
13Amp-
GUCA1C-
-
-
-
1Loss-
GUCD1-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
3Gain-
GUK1-
-
-
-
3Gain-
GVQW3-
-
-
-
1Loss-
GXYLT1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
1Loss-
GYS2-
-
-
-
1Loss-
GZF1-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H3F3B-
-
-
-
1Loss-
H3F3C-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HAAO-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HACD2-
-
-
-
1Loss-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAP1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
0Del-
HAUS2-
-
-
-
3Gain-
HAUS3-
-
-
-
3Gain-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBEGF-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCFC2-
-
-
-
3Gain-
HCLS1-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
3Gain-
HCRT-
-
-
-
1Loss-
HCRTR1-
-
-
-
1Loss-
HCRTR2-
-
-
-
3Gain-
HDAC1-
-
-
-
1Loss-
HDAC10-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC5-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HDGFL1-
-
-
-
1Loss-
HDGFL3-
-
-
-
3Gain-
HDHD2-
-
-
-
1Loss-
HDHD3-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEATR6-
-
-
-
1Loss-
HEATR9-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HEG1-
-
-
-
1Loss-
HELB-
-
-
-
1Loss-
HELZ-
-
-
-
1Loss-
HEMGN-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HENMT1-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HERC1-
-
-
-
3Gain-
HERC2-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HES1-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXA-
-
-
-
3Gain-
HEXB-
-
-
-
1Loss-
HEXDC-
-
-
-
1Loss-
HEXIM1-
-
-
-
1Loss-
HEXIM2-
-
-
-
1Loss-
HEY1-
-
-
-
1Loss-
HFE-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGD-
-
-
-
1Loss-
HGF-
-
-
-
3Gain-
HGFAC-
-
-
-
3Gain-
HGH1-
-
-
-
1Loss-
HGS-
-
-
-
1Loss-
HGSNAT-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
1Loss-
HHLA2-
-
-
-
1Loss-
HHLA3-
-
-
-
1Loss-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HID1-
-
-
-
1Loss-
HIGD1B-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HIGD2B-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
5Amp-
HIP1R-
-
-
-
1Loss-
HIRA-
-
-
-
1Loss-
HIST1H1A-
-
-
-
1Loss-
HIST1H1B-
-
-
-
1Loss-
HIST1H1C-
-
-
-
1Loss-
HIST1H1D-
-
-
-
1Loss-
HIST1H1E-
-
-
-
1Loss-
HIST1H1T-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2AB-
-
-
-
1Loss-
HIST1H2AC-
-
-
-
1Loss-
HIST1H2AD-
-
-
-
1Loss-
HIST1H2AE-
-
-
-
1Loss-
HIST1H2AG-
-
-
-
1Loss-
HIST1H2AH-
-
-
-
1Loss-
HIST1H2AI-
-
-
-
1Loss-
HIST1H2AJ-
-
-
-
1Loss-
HIST1H2AK-
-
-
-
1Loss-
HIST1H2AL-
-
-
-
1Loss-
HIST1H2AM-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HIST1H2BB-
-
-
-
1Loss-
HIST1H2BC-
-
-
-
1Loss-
HIST1H2BD-
-
-
-
1Loss-
HIST1H2BE-
-
-
-
1Loss-
HIST1H2BF-
-
-
-
1Loss-
HIST1H2BG-
-
-
-
1Loss-
HIST1H2BH-
-
-
-
1Loss-
HIST1H2BI-
-
-
-
1Loss-
HIST1H2BJ-
-
-
-
1Loss-
HIST1H2BK-
-
-
-
1Loss-
HIST1H2BL-
-
-
-
1Loss-
HIST1H2BM-
-
-
-
1Loss-
HIST1H2BN-
-
-
-
1Loss-
HIST1H2BO-
-
-
-
1Loss-
HIST1H3A-
-
-
-
1Loss-
HIST1H3B-
-
-
-
1Loss-
HIST1H3C-
-
-
-
1Loss-
HIST1H3D-
-
-
-
1Loss-
HIST1H3E-
-
-
-
1Loss-
HIST1H3F-
-
-
-
1Loss-
HIST1H3G-
-
-
-
1Loss-
HIST1H3H-
-
-
-
1Loss-
HIST1H3I-
-
-
-
1Loss-
HIST1H3J-
-
-
-
1Loss-
HIST1H4A-
-
-
-
1Loss-
HIST1H4B-
-
-
-
1Loss-
HIST1H4C-
-
-
-
1Loss-
HIST1H4D-
-
-
-
1Loss-
HIST1H4E-
-
-
-
1Loss-
HIST1H4F-
-
-
-
1Loss-
HIST1H4G-
-
-
-
1Loss-
HIST1H4H-
-
-
-
1Loss-
HIST1H4I-
-
-
-
1Loss-
HIST1H4J-
-
-
-
1Loss-
HIST1H4K-
-
-
-
1Loss-
HIST1H4L-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIST4H4-
-
-
-
1Loss-
HIVEP1-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HLA-A-
-
-
-
1Loss-
HLA-B-
-
-
-
1Loss-
HLA-C-
-
-
-
1Loss-
HLA-DMA-
-
-
-
1Loss-
HLA-DMB-
-
-
-
1Loss-
HLA-DOA-
-
-
-
1Loss-
HLA-DOB-
-
-
-
1Loss-
HLA-DPA1-
-
-
-
1Loss-
HLA-DPB1-
-
-
-
1Loss-
HLA-DQA1-
-
-
-
1Loss-
HLA-DQA2-
-
-
-
1Loss-
HLA-DQB1-
-
-
-
1Loss-
HLA-DQB2-
-
-
-
1Loss-
HLA-DRA-
-
-
-
1Loss-
HLA-DRB1-
-
-
-
1Loss-
HLA-DRB5-
-
-
-
1Loss-
HLA-E-
-
-
-
1Loss-
HLA-F-
-
-
-
1Loss-
HLA-G-
-
-
-
1Loss-
HLCS-
-
-
-
1Loss-
HLF-
-
-
-
1Loss-
HLTF-
-
-
-
1Loss-
HLX-
-
-
-
3Gain-
HMBOX1-
-
-
-
3Gain-
HMCES-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMCN2-
-
-
-
3Gain-
HMG20A-
-
-
-
3Gain-
HMGA1-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGCS2-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGN4-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
3Gain-
HNF1A-
-
-
-
1Loss-
HNF1B-
-
-
-
1Loss-
HNF4A-
-
-
-
6Amp-
HNF4G-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPA2B1p.M193I
Missense
SNP
0.118
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPLL-
-
-
-
1Loss-
HNRNPR-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
3Gain-
HOOK1-
-
-
-
1Loss-
HOOK3-
-
-
-
3Gain-
HOPX-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
1Loss-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB1-
-
-
-
1Loss-
HOXB13-
-
-
-
1Loss-
HOXB2-
-
-
-
1Loss-
HOXB3-
-
-
-
1Loss-
HOXB4-
-
-
-
1Loss-
HOXB5-
-
-
-
1Loss-
HOXB6-
-
-
-
1Loss-
HOXB7-
-
-
-
1Loss-
HOXB8-
-
-
-
1Loss-
HOXB9-
-
-
-
1Loss-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HP1BP3-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPS3-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HR-
-
-
-
3Gain-
HRASLS-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRCT1-
-
-
-
5Amp-
HRG-
-
-
-
1Loss-
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
1Loss-
HS3ST1-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B1-
-
-
-
1Loss-
HSD17B3-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSD17B8-
-
-
-
1Loss-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSDL2-
-
-
-
3Gain-
HSF1-
-
-
-
1Loss-
HSF2BP-
-
-
-
1Loss-
HSF5-
-
-
-
1Loss-
HSP90AB1-
-
-
-
3Gain-
HSP90B1-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA13-
-
-
-
1Loss-
HSPA14-
-
-
-
3Gain-
HSPA1A-
-
-
-
1Loss-
HSPA1B-
-
-
-
1Loss-
HSPA1L-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA5-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB11-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPB8-
-
-
-
1Loss-
HSPB9-
-
-
-
1Loss-
HSPBAP1-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR3C-
-
-
-
1Loss-
HTR3D-
-
-
-
1Loss-
HTR3E-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HTRA3-
-
-
-
3Gain-
HTRA4-
-
-
-
3Gain-
HTT-
-
-
-
3Gain-
HUNK-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HUS1B-
-
-
-
1Loss-
HVCN1-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
3Gain-
HYKK-
-
-
-
3Gain-
HYPK-
-
-
-
3Gain-
IAPP-
-
-
-
1Loss-
IARS-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICAM2-
-
-
-
1Loss-
ICE2-
-
-
-
3Gain-
ICK-
-
-
-
3Gain-
ICMT-
-
-
-
1Loss-
ICOSLG-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
ID4-
-
-
-
1Loss-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
4Gain-
IDI2-
-
-
-
4Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IDUA-
-
-
-
3Gain-
IER3-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IER5L-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFI35-
-
-
-
1Loss-
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-
IFNG-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
3Gain-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
1Loss-
IFT20-
-
-
-
1Loss-
IFT27-
-
-
-
1Loss-
IFT52-
-
-
-
6Amp-
IFT57-
-
-
-
1Loss-
IFT74-
-
-
-
3Gain-
IFT80-
-
-
-
1Loss-
IFT81-
-
-
-
1Loss-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1-
-
-
-
1Loss-
IGF1R-
-
-
-
3Gain-
IGF2BP1-
-
-
-
1Loss-
IGF2BP2-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP4-
-
-
-
1Loss-
IGFBP7-
-
-
-
3Gain-
IGFBPL1-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGHMBP2-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
1Loss-
IGSF11-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
1Loss-
IKBKB-
-
-
-
3Gain-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF3-
-
-
-
1Loss-
IKZF4-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RB-
-
-
-
1Loss-
IL11RA-
-
-
-
5Amp-
IL12A-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL12RB2-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15RA-
-
-
-
4Gain-
IL16-
-
-
-
3Gain-
IL17A-
-
-
-
5Amp-
IL17B-
-
-
-
1Loss-
IL17F-
-
-
-
5Amp-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL1RAP-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL20RB-
-
-
-
1Loss-
IL22-
-
-
-
1Loss-
IL22RA1-
-
-
-
1Loss-
IL23A-
-
-
-
3Gain-
IL23R-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL26-
-
-
-
1Loss-
IL2RA-
-
-
-
4Gain-
IL2RB-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
1Loss-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMP3-
-
-
-
3Gain-
IMPA1-
-
-
-
1Loss-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INIP-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80-
-
-
-
3Gain-
INPP5E-
-
-
-
5Amp-
INPP5J-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INPPL1-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM1-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
3Gain-
INSYN2B-
-
-
-
1Loss-
INTS10-
-
-
-
3Gain-
INTS11-
-
-
-
3Gain-
INTS13-
-
-
-
1Loss-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
26Amp-
INTS5-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
1Loss-
INTS9-
-
-
-
3Gain-
INVS-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IP6K3-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO8-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
1Loss-
IQCB1-
-
-
-
1Loss-
IQCC-
-
-
-
1Loss-
IQCD-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
1Loss-
IQCH-
-
-
-
3Gain-
IQCJ-
-
-
-
1Loss-
IQCJ-SCHIP1-
-
-
-
1Loss-
IQGAP1-
-
-
-
3Gain-
IQGAP2-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IQSEC3-
-
-
-
4Gain-
IQUB-
-
-
-
3Gain-
IRAK2-
-
-
-
1Loss-
IRAK3-
-
-
-
1Loss-
IREB2-
-
-
-
3Gain-
IRF1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF4-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRGM-
-
-
-
1Loss-
ISCA1-
-
-
-
3Gain-
ISCU-
-
-
-
1Loss-
ISG15-
-
-
-
3Gain-
ISG20-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISM1-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
ISX-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ITFG2-
-
-
-
9Amp-
ITGA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
3Gain-
ITGA2-
-
-
-
1Loss-
ITGA2B-
-
-
-
1Loss-
ITGA3-
-
-
-
1Loss-
ITGA5-
-
-
-
1Loss-
ITGA7-
-
-
-
1Loss-
ITGA8-
-
-
-
3Gain-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB1-
-
-
-
3Gain-
ITGB2-
-
-
-
1Loss-
ITGB3-
-
-
-
1Loss-
ITGB3BP-
-
-
-
1Loss-
ITGB4-
-
-
-
1Loss-
ITGB5-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
4Gain-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
4Gain-
ITK-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPA-
-
-
-
3Gain-
ITPKA-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPR1-
-
-
-
1Loss-
ITPR2-
-
-
-
1Loss-
ITPR3-
-
-
-
1Loss-
ITPRID1-
-
-
-
3Gain-
ITSN1-
-
-
-
1Loss-
IVD-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IZUMO3-
-
-
-
3Gain-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAGN1-
-
-
-
1Loss-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
3Gain-
JAKMIP2-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JARID2-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
5Amp-
JMJD4-
-
-
-
3Gain-
JMJD6-
-
-
-
1Loss-
JMJD7-
-
-
-
3Gain-
JMJD7-PLA2G4B-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPH1-
-
-
-
1Loss-
JPH2-
-
-
-
6Amp-
JPT1-
-
-
-
1Loss-
JRK-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
1Loss-
JUP-
-
-
-
1Loss-
KAAG1-
-
-
-
1Loss-
KALRN-
-
-
-
1Loss-
KANK1-
-
-
-
1Loss-
KANK4-
-
-
-
1Loss-
KANSL1-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT2A-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KAT5-
-
-
-
1Loss-
KAT6A-
-
-
-
3Gain-
KAT7-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
3Gain-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD12-
-
-
-
1Loss-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNA1-
-
-
-
14Amp-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA5-
-
-
-
14Amp-
KCNA6-
-
-
-
14Amp-
KCNAB1-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
6Amp-
KCNB2-
-
-
-
1Loss-
KCNC2-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE3-
-
-
-
1Loss-
KCNG1-
-
-
-
6Amp-
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNH1-
-
-
-
3Gain-
KCNH4-
-
-
-
1Loss-
KCNH6-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP4-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ16-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ2-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNJ8-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK12-
-
-
-
1Loss-
KCNK15-
-
-
-
6Amp-
KCNK16-
-
-
-
1Loss-
KCNK17-
-
-
-
1Loss-
KCNK2-
-
-
-
3Gain-
KCNK4-
-
-
-
1Loss-
KCNK5-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNK9-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
1Loss-
KCNMB3-
-
-
-
1Loss-
KCNMB4-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNQ3-
-
-
-
1Loss-
KCNS1-
-
-
-
6Amp-
KCNS2-
-
-
-
1Loss-
KCNT1-
-
-
-
5Amp-
KCNT2-
-
-
-
3Gain-
KCNU1p.P835L
Missense
SNP
0.415
3Gain-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD10-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD14-
-
-
-
7Amp-
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD2-
-
-
-
1Loss-
KCTD20-
-
-
-
1Loss-
KCTD21-
-
-
-
7Amp-
KCTD3-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KCTD8-
-
-
-
3Gain-
KCTD9-
-
-
-
3Gain-
KDELR3-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM1B-
-
-
-
1Loss-
KDM2A-
-
-
-
1Loss-
KDM2B-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM5A-
-
-
-
4Gain-
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDR-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KERA-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS1-
-
-
-
1Loss-
KHDRBS2-
-
-
-
3Gain-
KHDRBS3-
-
-
-
1Loss-
KIAA0100-
-
-
-
1Loss-
KIAA0232-
-
-
-
3Gain-
KIAA0319-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0930-
-
-
-
1Loss-
KIAA1024-
-
-
-
3Gain-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1191-
-
-
-
1Loss-
KIAA1211-
-
-
-
3Gain-
KIAA1217-
-
-
-
3Gain-
KIAA1257-
-
-
-
1Loss-
KIAA1324-
-
-
-
1Loss-
KIAA1324L-
-
-
-
3Gain-
KIAA1522-
-
-
-
1Loss-
KIAA1549Lp.V1203M
Missense
SNP
0.187
2--
KIAA1551-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIAA1958-
-
-
-
3Gain-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF13A-
-
-
-
1Loss-
KIF13B-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF18B-
-
-
-
1Loss-
KIF19-
-
-
-
1Loss-
KIF1B-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
3Gain-
KIF24-
-
-
-
5Amp-
KIF26B-
-
-
-
3Gain-
KIF27-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF2B-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF5B-
-
-
-
3Gain-
KIF6-
-
-
-
1Loss-
KIF7-
-
-
-
3Gain-
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC1-
-
-
-
1Loss-
KIFC2-
-
-
-
1Loss-
KIN-
-
-
-
4Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KIT-
-
-
-
3Gain-
KITLG-
-
-
-
1Loss-
KIZ-
-
-
-
3Gain-
KLB-
-
-
-
3Gain-
KLC2-
-
-
-
1Loss-
KLC4-
-
-
-
3Gain-
KLF10-
-
-
-
1Loss-
KLF13-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
1Loss-
KLF3-
-
-
-
3Gain-
KLF4-
-
-
-
3Gain-
KLF6-
-
-
-
4Gain-
KLF9-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC3-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL10-
-
-
-
1Loss-
KLHL11-
-
-
-
1Loss-
KLHL12-
-
-
-
3Gain-
KLHL17-
-
-
-
3Gain-
KLHL18-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL24-
-
-
-
1Loss-
KLHL25-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL31-
-
-
-
3Gain-
KLHL35-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL42-
-
-
-
1Loss-
KLHL5-
-
-
-
3Gain-
KLHL6-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5A-
-
-
-
1Loss-
KMT5B-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNG1-
-
-
-
1Loss-
KNL1-
-
-
-
3Gain-
KNSTRN-
-
-
-
3Gain-
KNTC1-
-
-
-
1Loss-
KPNA1-
-
-
-
1Loss-
KPNA2-
-
-
-
1Loss-
KPNA4-
-
-
-
1Loss-
KPNA6-
-
-
-
1Loss-
KPNB1-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRAS-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRR1-
-
-
-
1Loss-
KRT10-
-
-
-
1Loss-
KRT12-
-
-
-
1Loss-
KRT13-
-
-
-
1Loss-
KRT14-
-
-
-
1Loss-
KRT15-
-
-
-
1Loss-
KRT16-
-
-
-
1Loss-
KRT17-
-
-
-
1Loss-
KRT19-
-
-
-
1Loss-
KRT20-
-
-
-
1Loss-
KRT222-
-
-
-
1Loss-
KRT23-
-
-
-
1Loss-
KRT24-
-
-
-
1Loss-
KRT25-
-
-
-
1Loss-
KRT26-
-
-
-
1Loss-
KRT27-
-
-
-
1Loss-
KRT28-
-
-
-
1Loss-
KRT31-
-
-
-
1Loss-
KRT32-
-
-
-
1Loss-
KRT33A-
-
-
-
1Loss-
KRT33B-
-
-
-
1Loss-
KRT34-
-
-
-
1Loss-
KRT35-
-
-
-
1Loss-
KRT36-
-
-
-
1Loss-
KRT37-
-
-
-
1Loss-
KRT38-
-
-
-
1Loss-
KRT39-
-
-
-
1Loss-
KRT40-
-
-
-
1Loss-
KRT9-
-
-
-
1Loss-
KRTAP1-1-
-
-
-
1Loss-
KRTAP1-3-
-
-
-
1Loss-
KRTAP1-5-
-
-
-
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-
KRTAP16-1-
-
-
-
1Loss-
KRTAP17-1-
-
-
-
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-
KRTAP21-3-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP29-1-
-
-
-
1Loss-
KRTAP3-1-
-
-
-
1Loss-
KRTAP3-2-
-
-
-
1Loss-
KRTAP3-3-
-
-
-
1Loss-
KRTAP4-1-
-
-
-
1Loss-
KRTAP4-11-
-
-
-
1Loss-
KRTAP4-12-
-
-
-
1Loss-
KRTAP4-16-
-
-
-
1Loss-
KRTAP4-2-
-
-
-
1Loss-
KRTAP4-3-
-
-
-
1Loss-
KRTAP4-4-
-
-
-
1Loss-
KRTAP4-5-
-
-
-
1Loss-
KRTAP4-6-
-
-
-
1Loss-
KRTAP4-7-
-
-
-
1Loss-
KRTAP4-8-
-
-
-
1Loss-
KRTAP4-9-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP6-3-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
1Loss-
KRTAP9-2-
-
-
-
1Loss-
KRTAP9-3-
-
-
-
1Loss-
KRTAP9-4-
-
-
-
1Loss-
KRTAP9-6-
-
-
-
1Loss-
KRTAP9-7-
-
-
-
1Loss-
KRTAP9-8-
-
-
-
1Loss-
KRTAP9-9-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KSR1-
-
-
-
1Loss-
KSR2-
-
-
-
3Gain-
KTI12-
-
-
-
1Loss-
KY-
-
-
-
1Loss-
KYAT1-
-
-
-
3Gain-
KYAT3-
-
-
-
1Loss-
L1TD1-
-
-
-
1Loss-
L3MBTL1-
-
-
-
6Amp-
L3MBTL2-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LACTB-
-
-
-
3Gain-
LACTB2-
-
-
-
1Loss-
LACTBL1-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAG3-
-
-
-
1Loss-
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMC3-
-
-
-
3Gain-
LAMP3-
-
-
-
1Loss-
LAMP5-
-
-
-
3Gain-
LAMTOR1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LAMTOR5-
-
-
-
1Loss-
LANCL2-
-
-
-
3Gain-
LAP3-
-
-
-
3Gain-
LAPTM4B-
-
-
-
1Loss-
LAPTM5-
-
-
-
1Loss-
LARGE1-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP4B-
-
-
-
4Gain-
LARP6-
-
-
-
3Gain-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LBHD1-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
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-
LCMT2-
-
-
-
3Gain-
LCN1-
-
-
-
5Amp-
LCN10-
-
-
-
5Amp-
LCN12-
-
-
-
5Amp-
LCN15-
-
-
-
5Amp-
LCN2-
-
-
-
3GainAL139099.4--LCN2
LCN6-
-
-
-
5Amp-
LCN8-
-
-
-
5Amp-
LCN9-
-
-
-
5Amp-
LCNL1-
-
-
-
5Amp-
LCORL-
-
-
-
3Gain-
LCP2-
-
-
-
1Loss-
LCTL-
-
-
-
3Gain-
LDB2-
-
-
-
3Gain-
LDHAL6B-
-
-
-
3Gain-
LDHB-
-
-
-
1Loss-
LDLRAD1-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEKR1-
-
-
-
1Loss-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LEMD2-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LEPROTL1-
-
-
-
3Gain-
LETM1-
-
-
-
3Gain-
LETM2-
-
-
-
3Gain-
LEXM-
-
-
-
1Loss-
LGALS1-
-
-
-
1Loss-
LGALS12-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3BP-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI2-
-
-
-
3Gain-
LGI3-
-
-
-
3Gain-
LGR5-
-
-
-
1Loss-
LGR6-
-
-
-
3Gain-
LGSN-
-
-
-
3Gain-
LHCGR-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
1Loss-
LHFPL5-
-
-
-
1Loss-
LHX1-
-
-
-
1Loss-
LHX2-
-
-
-
3Gain-
LHX3-
-
-
-
5Amp-
LHX4-
-
-
-
3Gain-
LHX5-
-
-
-
1Loss-
LHX6-
-
-
-
3Gain-
LHX8-
-
-
-
1Loss-
LHX9-
-
-
-
3Gain-
LIAS-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LIFR-
-
-
-
3Gain-
LIG3-
-
-
-
1Loss-
LIMCH1-
-
-
-
3Gain-
LIMD1-
-
-
-
1Loss-
LIMD2-
-
-
-
1Loss-
LIMK2-
-
-
-
1Loss-
LIN28A-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
3Gain-
LINC02210-CRHR1-
-
-
-
1Loss-
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLGL2-
-
-
-
1Loss-
LLPH-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
3Gain-
LMAN2-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LMX1B-
-
-
-
3Gain-
LNP1-
-
-
-
1Loss-
LNPEP-
-
-
-
1Loss-
LNX1p.T296S
Missense
SNP
0.175
3Gain-
LONRF1-
-
-
-
3Gain-
LOR-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
3Gain-
LOXL2-
-
-
-
3Gain-
LPAR1-
-
-
-
3Gain-
LPAR3-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPCAT3-
-
-
-
1Loss-
LPCAT4-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
6Amp-
LPL-
-
-
-
3Gain-
LPO-
-
-
-
1Loss-
LPP-
-
-
-
1Loss-
LPXN-
-
-
-
1Loss-
LRCH3-
-
-
-
1Loss-
LRFN2-
-
-
-
8Amp-
LRFN4-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRIG3-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP12-
-
-
-
1Loss-
LRP5-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRP8-
-
-
-
1Loss-
LRPAP1-
-
-
-
3Gain-
LRPPRC-
-
-
-
1Loss-
LRRC1-
-
-
-
3Gain-
LRRC10-
-
-
-
1Loss-
LRRC10B-
-
-
-
1Loss-
LRRC14-
-
-
-
1Loss-
LRRC15-
-
-
-
1Loss-
LRRC19-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC24-
-
-
-
1Loss-
LRRC26-
-
-
-
5Amp-
LRRC28-
-
-
-
3Gain-
LRRC3-
-
-
-
1Loss-
LRRC31-
-
-
-
1Loss-
LRRC32-
-
-
-
1Loss-
LRRC34-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC37A3-
-
-
-
1Loss-
LRRC37B-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC40-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC43-
-
-
-
1Loss-
LRRC45-
-
-
-
1Loss-
LRRC46-
-
-
-
1Loss-
LRRC47-
-
-
-
1Loss-
LRRC49-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC53-
-
-
-
1Loss-
LRRC57-
-
-
-
3Gain-
LRRC58-
-
-
-
1Loss-
LRRC59-
-
-
-
1Loss-
LRRC6-
-
-
-
1Loss-
LRRC66-
-
-
-
3Gain-
LRRC69-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC73-
-
-
-
3Gain-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8A-
-
-
-
3Gain-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRCC1-
-
-
-
1Loss-
LRRD1-
-
-
-
3Gain-
LRRFIP2-
-
-
-
1Loss-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
1Loss-
LRRIQ4-
-
-
-
1Loss-
LRRK1-
-
-
-
3Gain-
LRRK2-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRN4-
-
-
-
3Gain-
LRRN4CL-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRSAM1-
-
-
-
3Gain-
LRTM1-
-
-
-
1Loss-
LRTM2-
-
-
-
9Amp-
LRTOMT-
-
-
-
1Loss-
LSAMP-
-
-
-
1Loss-
LSG1-
-
-
-
1Loss-
LSM1-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM12-
-
-
-
1Loss-
LSM2-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LST1-
-
-
-
1Loss-
LTA-
-
-
-
1Loss-
LTA4H-
-
-
-
1Loss-
LTB-
-
-
-
1Loss-
LTBP3-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTK-
-
-
-
3Gain-
LTN1-
-
-
-
1Loss-
LTO1-
-
-
-
1Loss-
LUC7L3-
-
-
-
1Loss-
LUM-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP1-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
1Loss-
LY6D-
-
-
-
1Loss-
LY6E-
-
-
-
1Loss-
LY6G5B-
-
-
-
1Loss-
LY6G5C-
-
-
-
1Loss-
LY6G6C-
-
-
-
1Loss-
LY6G6D-
-
-
-
1Loss-
LY6G6E-
-
-
-
1Loss-
LY6G6F-
-
-
-
1Loss-
LY6G6F-LY6G6D-
-
-
-
1Loss-
LY6H-
-
-
-
1Loss-
LY6K-
-
-
-
1Loss-
LY6L-
-
-
-
1Loss-
LY86-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
1Loss-
LYAR-
-
-
-
3Gain-
LYN-
-
-
-
1Loss-
LYNX1-
-
-
-
1Loss-
LYNX1-SLURP2-
-
-
-
1Loss-
LYPD2-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYPLA2-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYRM4-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYRM9-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZ-
-
-
-
1Loss-
LYZL1-
-
-
-
5Amp-
LYZL2-
-
-
-
5Amp-
LYZL4-
-
-
-
1Loss-
LYZL6-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
3Gain-
LZTS3-
-
-
-
3Gain-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACO1-
-
-
-
1Loss-
MACROD1-
-
-
-
1Loss-
MACROD2-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
3Gain-
MAD2L2-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAEA-
-
-
-
3Gain-
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
1Loss-
MAFA-
-
-
-
1Loss-
MAFB-
-
-
-
6Amp-
MAFF-
-
-
-
1Loss-
MAFG-
-
-
-
1Loss-
MAGEF1-
-
-
-
1Loss-
MAGEL2-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGI2-
-
-
-
3Gain-
MAGOH-
-
-
-
1Loss-
MAGOHB-
-
-
-
1Loss-
MAJIN-
-
-
-
1Loss-
MAK-
-
-
-
1Loss-
MAK16-
-
-
-
3Gain-
MALRD1-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
3Gain-
MAMDC4-
-
-
-
5Amp-
MAN1A2-
-
-
-
1Loss-
MAN1B1-
-
-
-
5Amp-
MAN1C1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
-
-
3Gain-
MAN2B2-
-
-
-
3Gain-
MAN2C1-
-
-
-
3Gain-
MANF-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
3Gain-
MAP1B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP2K1-
-
-
-
3Gain-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K11-
-
-
-
1Loss-
MAP3K13-
-
-
-
1Loss-
MAP3K14-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K3-
-
-
-
1Loss-
MAP3K6-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP3K8-
-
-
-
5Amp-
MAP4-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP4K3-
-
-
-
1Loss-
MAP6-
-
-
-
1Loss-
MAP6D1-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK13-
-
-
-
1Loss-
MAPK14-
-
-
-
1Loss-
MAPK15-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
3Gain-
MAPK7-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
3Gain-
MAPKBP1-
-
-
-
3Gain-
MAPT-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH10-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARCKSL1-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK2-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MAS1L-
-
-
-
1Loss-
MASP1-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MASTL-
-
-
-
8Amp-
MAT2B-
-
-
-
1Loss-
MATN1-
-
-
-
1Loss-
MATN2-
-
-
-
1Loss-
MATN4-
-
-
-
6Amp-
MATR3-
-
-
-
1Loss-
MAVS-
-
-
-
3Gain-
MB-
-
-
-
1Loss-
MB21D2-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBD6-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
1Loss-
MBOAT1-
-
-
-
1Loss-
MBOAT4-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MBTD1-
-
-
-
1Loss-
MC2Rp.R279Q
Missense
SNP
0.234
2--
MC3R-
-
-
-
6Amp-
MC4R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC1-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCCD1-
-
-
-
1Loss-
MCF2L2-
-
-
-
1Loss-
MCFD2-
-
-
-
1Loss-
MCHR1-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MCM2-
-
-
-
1Loss-
MCM3-
-
-
-
5Amp-
MCM5-
-
-
-
1Loss-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
1Loss-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCPH1-
-
-
-
3Gain-
MCRIP1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
3Gain-
MCUR1-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFI-
-
-
-
8Amp-
MDFIC-
-
-
-
3Gain-
MDGA1-
-
-
-
1Loss-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDM4-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
MEA1-
-
-
-
1Loss-
MECOM-
-
-
-
1Loss-
MECR-
-
-
-
1Loss-
MED1-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
1Loss-
MED13-
-
-
-
1Loss-
MED13L-
-
-
-
1Loss-
MED15-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED18-
-
-
-
1Loss-
MED19-
-
-
-
1Loss-
MED20-
-
-
-
8Amp-
MED21-
-
-
-
1Loss-
MED22-
-
-
-
3Gain-
MED24-
-
-
-
1Loss-
MED27-
-
-
-
3Gain-
MED28-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2A-
-
-
-
3Gain-
MEF2C-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
3Gain-
MEGF6-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEI1-
-
-
-
1Loss-
MEIG1-
-
-
-
3Gain-
MEIOC-
-
-
-
1Loss-
MEIS2-
-
-
-
3Gain-
MELK-
-
-
-
5Amp-
MELTF-
-
-
-
1Loss-
MEN1-
-
-
-
1Loss-
MEOX1-
-
-
-
1Loss-
MEOX2-
-
-
-
3Gain-
MEP1A-
-
-
-
3Gain-
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP2-
-
-
-
1Loss-
METRNL-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL16-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL23-
-
-
-
1Loss-
METTL25-
-
-
-
1Loss-
METTL2A-
-
-
-
1Loss-
METTL2B-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
3Gain-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFGE8-
-
-
-
3Gain-
MFHAS1-
-
-
-
3Gain-
MFN1-
-
-
-
1Loss-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD1-
-
-
-
1Loss-
MFSD10-
-
-
-
3Gain-
MFSD11-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD3-
-
-
-
1Loss-
MFSD4A-
-
-
-
3Gain-
MFSD5-
-
-
-
0Del-
MFSD6L-
-
-
-
1Loss-
MGA-
-
-
-
3Gain-
MGAT3-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGAT5B-
-
-
-
1Loss-
MGLL-
-
-
-
1Loss-
MGME1-
-
-
-
3Gain-
MGP-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICA-
-
-
-
1Loss-
MICAL2p.R586Q
Missense
SNP
0.133
2--
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICB-
-
-
-
1Loss-
MICU3-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIEN1-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MIF4GD-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MIGA2-
-
-
-
3Gain-
MIIP-
-
-
-
1Loss-
MILR1-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MIP-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKKS-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3-
-
-
-
3Gain-
MKS1-
-
-
-
1Loss-
MKX-
-
-
-
8Amp-
MLANA-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF1-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLIP-
-
-
-
3Gain-
MLLT10-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLLT6-
-
-
-
1Loss-
MLN-
-
-
-
1Loss-
MLX-
-
-
-
1Loss-
MLXIP-
-
-
-
1Loss-
MMAB-
-
-
-
1Loss-
MMD-
-
-
-
1Loss-
MME-
-
-
-
1Loss-
MMEL1-
-
-
-
1Loss-
MMP11-
-
-
-
1Loss-
MMP16-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP28-
-
-
-
1Loss-
MMP9-
-
-
-
6Amp-
MN1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOCS3-
-
-
-
6Amp-
MOG-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC1-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORC3-
-
-
-
1Loss-
MORF4L1-
-
-
-
3Gain-
MORN1-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MORN3-
-
-
-
1Loss-
MORN5-
-
-
-
3Gain-
MOS-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
1Loss-
MPI-
-
-
-
3Gain-
MPIG6B-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPO-
-
-
-
1Loss-
MPP2-
-
-
-
1Loss-
MPP3-
-
-
-
1Loss-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
8Amp-
MPPED1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP-
-
-
-
1Loss-
MRAS-
-
-
-
1Loss-
MRC1-
-
-
-
3Gain-
MRC2-
-
-
-
1Loss-
MRFAP1-
-
-
-
3Gain-
MRFAP1L1-
-
-
-
3Gain-
MRGPRD-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRM1-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MROH5-
-
-
-
1Loss-
MROH6-
-
-
-
1Loss-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MROH9-
-
-
-
3Gain-
MRPL10-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL12-
-
-
-
1Loss-
MRPL14-
-
-
-
3Gain-
MRPL15-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL2-
-
-
-
3Gain-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL27-
-
-
-
1Loss-
MRPL3-
-
-
-
1Loss-
MRPL32-
-
-
-
3Gain-
MRPL37-
-
-
-
1Loss-
MRPL38-
-
-
-
1Loss-
MRPL39-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL41-
-
-
-
5Amp-
MRPL42-
-
-
-
1Loss-
MRPL45-
-
-
-
1Loss-
MRPL46-
-
-
-
3Gain-
MRPL47-
-
-
-
1Loss-
MRPL48-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL50-
-
-
-
3Gain-
MRPL51-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL58-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
13Amp-
MRPS11-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS18A-
-
-
-
3Gain-
MRPS18B-
-
-
-
1Loss-
MRPS2-
-
-
-
5Amp-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
1Loss-
MRPS23-
-
-
-
1Loss-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS28-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS35-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRPS7-
-
-
-
1Loss-
MRRF-
-
-
-
3Gain-
MRS2-
-
-
-
1Loss-
MRTFA-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD1-
-
-
-
3Gain-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSC-
-
-
-
1Loss-
MSH2-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSH5-
-
-
-
1Loss-
MSH5-SAPCD1-
-
-
-
1Loss-
MSH6-
-
-
-
1Loss-
MSI1-
-
-
-
1Loss-
MSI2-
-
-
-
1Loss-
MSL1-
-
-
-
1Loss-
MSL2-
-
-
-
1Loss-
MSMP-
-
-
-
5Amp-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSRB3-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
3Gain-
MSX2-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MTA2-
-
-
-
1Loss-
MTA3-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH1-
-
-
-
1Loss-
MTDH-
-
-
-
1Loss-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTERF3-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFMT-
-
-
-
3Gain-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
1Loss-
MTFR1L-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
3Gain-
MTIF2-
-
-
-
1Loss-
MTMR10-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR4-
-
-
-
1Loss-
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTOR-
-
-
-
1Loss-
MTPAP-
-
-
-
5Amp-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTSS1-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC13-
-
-
-
1Loss-
MUC19-
-
-
-
3Gain-
MUC20-
-
-
-
1Loss-
MUC21-
-
-
-
1Loss-
MUC22-
-
-
-
1Loss-
MUC4-
-
-
-
1Loss-
MUCL1-
-
-
-
1Loss-
MUCL3-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MUSK-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MUT-
-
-
-
1Loss-
MVB12B-
-
-
-
3Gain-
MVK-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MXD4-
-
-
-
3Gain-
MXRA7-
-
-
-
1Loss-
MXRA8-
-
-
-
3Gain-
MYADML2-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
1Loss-
MYBL2-
-
-
-
6Amp-
MYBPC1-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYBPHL-
-
-
-
1Loss-
MYC-
-
-
-
3Gain-
MYCBPAP-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYEF2-
-
-
-
3Gain-
MYEOV-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH15-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL2-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL4-
-
-
-
1Loss-
MYL5-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLIP-
-
-
-
1Loss-
MYLK-
-
-
-
1Loss-
MYLK4-
-
-
-
1Loss-
MYMK-
-
-
-
3Gain-
MYMX-
-
-
-
3Gain-
MYNN-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO15B-
-
-
-
1Loss-
MYO18A-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO19-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
1Loss-
MYO1E-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
1Loss-
MYO3A-
-
-
-
5Amp-
MYO5A-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
3Gain-
MYO7A-
-
-
-
1Loss-
MYO9A-
-
-
-
3Gain-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOG-
-
-
-
3Gain-
MYOM2p.R356H
Missense
SNP
0.350
3Gain-
MYOM3-
-
-
-
1Loss-
MYORG-
-
-
-
5Amp-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYRFL-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYSM1-
-
-
-
1Loss-
MYZAP-
-
-
-
3Gain-
MZB1-
-
-
-
1Loss-
N4BP2-
-
-
-
3Gain-
N4BP3-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA50-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAALADL2-
-
-
-
1Loss-
NAB2-
-
-
-
1Loss-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
1Loss-
NACA2-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NACC2-
-
-
-
5Amp-
NADK-
-
-
-
3Gain-
NADSYN1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAGLU-
-
-
-
1Loss-
NAGS-
-
-
-
1Loss-
NAIF1-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOGP8-
-
-
-
3Gain-
NANP-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
1Loss-
NARF-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
7Amp-
NAT1-
-
-
-
3Gain-
NAT2-
-
-
-
3Gain-
NAT8L-
-
-
-
3Gain-
NAT9-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAV3-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEAL2-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF3-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBPF9-
-
-
-
3Gain-
NBR1-
-
-
-
1Loss-
NCALD-
-
-
-
1Loss-
NCAM2-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPG-
-
-
-
3Gain-
NCAPH2-
-
-
-
1Loss-
NCBP1-
-
-
-
3Gain-
NCBP2-
-
-
-
1Loss-
NCBP2-AS2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
1Loss-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCK1-
-
-
-
1Loss-
NCKAP1L-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA2-
-
-
-
1Loss-
NCOA3-
-
-
-
6Amp-
NCOA5-
-
-
-
6Amp-
NCOR1-
-
-
-
1Loss-
NCOR2-
-
-
-
1Loss-
NCR2-
-
-
-
8Amp-
NCR3-
-
-
-
1Loss-
NCS1-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDC1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDN-
-
-
-
3Gain-
NDOR1-
-
-
-
5Amp-
NDRG1-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
1Loss-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFA8-
-
-
-
3Gain-
NDUFA9-
-
-
-
14Amp-
NDUFAF1-
-
-
-
3Gain-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
1Loss-
NDUFAF8-
-
-
-
1Loss-
NDUFB4-
-
-
-
1Loss-
NDUFB5-
-
-
-
1Loss-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFC2-
-
-
-
7Amp-
NDUFC2-KCTD14-
-
-
-
7Amp-
NDUFS2-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NEBL-
-
-
-
3Gain-
NECAB1-
-
-
-
1Loss-
NECAP1-
-
-
-
1Loss-
NECAP2-
-
-
-
1Loss-
NECTIN3-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD1-
-
-
-
1Loss-
NEDD4-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD9-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEGR1-
-
-
-
1Loss-
NEIL1-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK4-
-
-
-
1Loss-
NEK6-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NEK8-
-
-
-
1Loss-
NELFA-
-
-
-
3Gain-
NELFB-
-
-
-
5Amp-
NELFCD-
-
-
-
7Amp-
NELFE-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
3Gain-
NEPRO-
-
-
-
1Loss-
NES-
-
-
-
3Gain-
NET1-
-
-
-
4Gain-
NETO1-
-
-
-
1Loss-
NEU1-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEURL2-
-
-
-
6Amp-
NEURL4-
-
-
-
1Loss-
NEUROD2-
-
-
-
1Loss-
NEUROD4-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NF1-
-
-
-
1Loss-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFASC-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
6Amp-
NFE2-
-
-
-
1Loss-
NFE2L1-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIL3-
-
-
-
3Gain-
NFKBIE-
-
-
-
3Gain-
NFKBIL1-
-
-
-
1Loss-
NFKBIZ-
-
-
-
1Loss-
NFX1-
-
-
-
5Amp-
NFXL1-
-
-
-
3Gain-
NFYA-
-
-
-
8Amp-
NFYB-
-
-
-
3Gain-
NGFR-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHLH1-
-
-
-
3Gain-
NHLRC1-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NIM1K-
-
-
-
3Gain-
NINJ1-
-
-
-
3Gain-
NINJ2-
-
-
-
4Gain-
NINL-
-
-
-
3Gain-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPAL1-
-
-
-
3Gain-
NIPAL2-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NIT2-
-
-
-
1Loss-
NKAIN1-
-
-
-
1Loss-
NKAIN3-
-
-
-
1Loss-
NKAPL-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-1-
-
-
-
3Gain-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
3Gain-
NKX3-1-
-
-
-
3Gain-
NKX3-2-
-
-
-
3Gain-
NKX6-3-
-
-
-
3Gain-
NLE1-
-
-
-
1Loss-
NLGN1-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLK-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP9p.G172V
Missense
SNP
0.371
2--
NMB-
-
-
-
3Gain-
NMD3-
-
-
-
1Loss-
NME1-
-
-
-
1Loss-
NME1-NME2-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMNAT3-
-
-
-
1Loss-
NMRK1-
-
-
-
3Gain-
NMT1-
-
-
-
1Loss-
NMT2-
-
-
-
3Gain-
NMU-
-
-
-
3Gain-
NMUR2-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
3Gain-
NOC2L-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOG-
-
-
-
1Loss-
NOL11-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL6-
-
-
-
5Amp-
NOL7-
-
-
-
1Loss-
NOL8-
-
-
-
3Gain-
NOL9-
-
-
-
1Loss-
NOP10-
-
-
-
3Gain-
NOP14-
-
-
-
3Gain-
NOP16-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOS1-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOS2-
-
-
-
1Loss-
NOTCH1-
-
-
-
5Amp-
NOTCH2-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH4-
-
-
-
1Loss-
NOTUM-
-
-
-
1Loss-
NOX5-
-
-
-
3Gain-
NOXA1-
-
-
-
5Amp-
NPAP1-
-
-
-
3Gain-
NPAS4-
-
-
-
1Loss-
NPB-
-
-
-
1Loss-
NPBWR1-
-
-
-
1Loss-
NPC1L1-
-
-
-
3Gain-
NPDC1-
-
-
-
5Amp-
NPEPL1-
-
-
-
7Amp-
NPEPPS-
-
-
-
1Loss-
NPHP3-
-
-
-
1Loss-
NPHP3-ACAD11-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPLOC4-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
3Gain-
NPPA-
-
-
-
1Loss-
NPPBp.R47C
Missense
SNP
0.182
1Loss-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
5Amp-
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NQO2-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1D1-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1H4-
-
-
-
1Loss-
NR1I2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C1-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR2E3-
-
-
-
3Gain-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
3Gain-
NR3C1-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NR6A1-
-
-
-
3Gain-
NRARP-
-
-
-
5Amp-
NRBP2-
-
-
-
1Loss-
NRCAM-
-
-
-
3Gain-
NRDC-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
3Gain-
NRG2-
-
-
-
1Loss-
NRG4-
-
-
-
3Gain-
NRIP1-
-
-
-
1Loss-
NRIP2-
-
-
-
9Amp-
NRM-
-
-
-
1Loss-
NRN1-
-
-
-
1Loss-
NRP1-
-
-
-
3Gain-
NRROS-
-
-
-
1Loss-
NRSN1-
-
-
-
1Loss-
NRSN2-
-
-
-
3Gain-
NRXN1-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD2-
-
-
-
3Gain-
NSD3-
-
-
-
3Gain-
NSF-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSG1-
-
-
-
3Gain-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSMCE3-
-
-
-
3Gain-
NSMF-
-
-
-
5Amp-
NSRP1-
-
-
-
1Loss-
NSUN3-
-
-
-
1Loss-
NSUN6-
-
-
-
3Gain-
NSUN7-
-
-
-
3Gain-
NT5C-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5C3B-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTMT1-
-
-
-
3Gain-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTNG2-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK2-
-
-
-
3Gain-
NTRK3-
-
-
-
3Gain-
NTS-
-
-
-
1Loss-
NUAK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDC-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT16-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
3Gain-
NUDT2-
-
-
-
5Amp-
NUDT22-
-
-
-
1Loss-
NUDT3-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUDT8-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUFIP2-
-
-
-
1Loss-
NUGGC-
-
-
-
3Gain-
NUMA1-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP153-
-
-
-
1Loss-
NUP188-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP214-
-
-
-
3Gain-
NUP37-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NUP85-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUSAP1-
-
-
-
3Gain-
NUTM1-
-
-
-
3Gain-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NWD2-
-
-
-
3Gain-
NXF1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL2-
-
-
-
3Gain-
NXPE3-
-
-
-
1Loss-
NXPH1-
-
-
-
3Gain-
NXPH3-
-
-
-
1Loss-
NXPH4-
-
-
-
1Loss-
NXT1-
-
-
-
3Gain-
OARD1-
-
-
-
8Amp-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBP2A-
-
-
-
5Amp-
OBP2B-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OC90-
-
-
-
1Loss-
OCA2-
-
-
-
3Gain-
OCIAD1-
-
-
-
3Gain-
OCIAD2-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
OCSTAMP-
-
-
-
6Amp-
ODF1-
-
-
-
1Loss-
ODF2-
-
-
-
3Gain-
ODF2L-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF3L1-
-
-
-
3Gain-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGFOD2-
-
-
-
1Loss-
OGFOD3-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OGN-
-
-
-
3Gain-
OIP5-
-
-
-
3Gain-
OLAH-
-
-
-
3Gain-
OLFM1-
-
-
-
5Amp-
OLFM3-
-
-
-
1Loss-
OLFML2A-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OLR1-
-
-
-
1Loss-
OMA1-
-
-
-
1Loss-
OMD-
-
-
-
3Gain-
OMG-
-
-
-
1Loss-
OMP-
-
-
-
1Loss-
ONECUT1-
-
-
-
3Gain-
ONECUT2-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPA1-
-
-
-
1Loss-
OPLAH-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPN5-
-
-
-
3Gain-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
3Gain-
OR10A7-
-
-
-
1Loss-
OR10C1-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10P1-
-
-
-
1Loss-
OR10Q1-
-
-
-
1Loss-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11A1-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR12D2-
-
-
-
1Loss-
OR12D3-
-
-
-
1Loss-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR13J1-
-
-
-
5Amp-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14J1-
-
-
-
1Loss-
OR14K1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2AP1-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2B11-
-
-
-
3Gain-
OR2B2-
-
-
-
1Loss-
OR2B3-
-
-
-
1Loss-
OR2B6-
-
-
-
1Loss-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2H1-
-
-
-
1Loss-
OR2H2-
-
-
-
1Loss-
OR2J1-
-
-
-
1Loss-
OR2J2-
-
-
-
1Loss-
OR2J3-
-
-
-
1Loss-
OR2K2-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2S2-
-
-
-
5Amp-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W1-
-
-
-
1Loss-
OR2W3-
-
-
-
3Gain-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4D1-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D2-
-
-
-
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4F15-
-
-
-
3Gain-
OR4F4-
-
-
-
3Gain-
OR4F5-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4M2-
-
-
-
3Gain-
OR4N4-
-
-
-
3Gain-
OR51B6p.S173F
Missense
SNP
0.177
2--
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AC2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5C1-
-
-
-
3Gain-
OR5H1-
-
-
-
1Loss-
OR5H14-
-
-
-
1Loss-
OR5H15-
-
-
-
1Loss-
OR5H2-
-
-
-
1Loss-
OR5H6-
-
-
-
1Loss-
OR5K1-
-
-
-
1Loss-
OR5K2-
-
-
-
1Loss-
OR5K3-
-
-
-
1Loss-
OR5K4-
-
-
-
1Loss-
OR5V1-
-
-
-
1Loss-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Q1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR9I1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORC1-
-
-
-
1Loss-
ORC5-
-
-
-
3Gain-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
ORMDL3-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
1Loss-
OSBPL3-
-
-
-
3Gain-
OSBPL7-
-
-
-
1Loss-
OSBPL8-
-
-
-
1Loss-
OSBPL9-
-
-
-
1Loss-
OSER1-
-
-
-
6Amp-
OSM-
-
-
-
1Loss-
OSMR-
-
-
-
3Gain-
OSR2-
-
-
-
1Loss-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
1Loss-
OTOGL-
-
-
-
1Loss-
OTOL1p.H28Y
Missense
SNP
0.084
1Loss-
OTOP1-
-
-
-
3Gain-
OTOP2-
-
-
-
1Loss-
OTOP3-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUD1-
-
-
-
3Gain-
OTUD3-
-
-
-
1Loss-
OTUD6B-
-
-
-
1Loss-
OTUD7A-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVCH1-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXCT1-
-
-
-
3Gain-
OXER1-
-
-
-
1Loss-
OXLD1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
3Gain-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX3-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY1-
-
-
-
1Loss-
P2RY12-
-
-
-
1Loss-
P2RY13-
-
-
-
1Loss-
P2RY14-
-
-
-
1Loss-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H2-
-
-
-
1Loss-
P3H3-
-
-
-
1Loss-
P3H4-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
P4HB-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PA2G4-
-
-
-
3Gain-
PAAF1-
-
-
-
1Loss-
PABPC1p.P33L
Missense
SNP
0.141
1Loss-
PABPC1L-
-
-
-
6Amp-
PACRGL-
-
-
-
3Gain-
PACS1-
-
-
-
1Loss-
PACSIN1-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAEP-
-
-
-
5Amp-
PAFAH1B1-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAG1-
-
-
-
1Loss-
PAH-
-
-
-
1Loss-
PAICS-
-
-
-
3Gain-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAK1-
-
-
-
17Amp-
PAK1IP1-
-
-
-
1Loss-
PAK2-
-
-
-
1Loss-
PAK5-
-
-
-
3Gain-
PAK6-
-
-
-
3Gain-
PALM-
-
-
-
1Loss-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PALMD-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAN2-
-
-
-
3Gain-
PANK2-
-
-
-
3Gain-
PANK3-
-
-
-
1Loss-
PANK4-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPPA-
-
-
-
3Gain-
PAPPA2-
-
-
-
3Gain-
PAQR5-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
1Loss-
PAQR8-
-
-
-
5Amp-
PAQR9-
-
-
-
1Loss-
PARD3-
-
-
-
3Gain-
PARD6B-
-
-
-
6Amp-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARL-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
1Loss-
PARP11-
-
-
-
14Amp-
PARP14-
-
-
-
1Loss-
PARP15-
-
-
-
1Loss-
PARP16-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP6-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PARP9-
-
-
-
1Loss-
PARPBP-
-
-
-
1Loss-
PARS2-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATJ-
-
-
-
1Loss-
PATL1-
-
-
-
1Loss-
PATL2-
-
-
-
3Gain-
PATZ1-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX1-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX5-
-
-
-
3Gain-
PAX7-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PAXX-
-
-
-
5Amp-
PBK-
-
-
-
3Gain-
PBRM1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBX2-
-
-
-
1Loss-
PBX3-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCB-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10p.A484V
Missense
SNP
0.644
2--
PCDH12-
-
-
-
1Loss-
PCDH7-
-
-
-
3Gain-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
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-
PCGF2-
-
-
-
1Loss-
PCGF3-
-
-
-
3Gain-
PCIF1-
-
-
-
6Amp-
PCK1-
-
-
-
7Amp-
PCLAF-
-
-
-
3Gain-
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
1Loss-
PCNA-
-
-
-
3Gain-
PCNP-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
1Loss-
PCOLCE2-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
3Gain-
PCSK9-
-
-
-
1Loss-
PCTP-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
1Loss-
PCYT2-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD10-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL-
-
-
-
3Gain-
PDCL2-
-
-
-
3Gain-
PDE12-
-
-
-
1Loss-
PDE1B-
-
-
-
1Loss-
PDE1C-
-
-
-
3Gain-
PDE2A-
-
-
-
1Loss-
PDE3A-
-
-
-
1Loss-
PDE4B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6A-
-
-
-
1Loss-
PDE6B-
-
-
-
3Gain-
PDE6G-
-
-
-
1Loss-
PDE6H-
-
-
-
1Loss-
PDE7A-
-
-
-
1Loss-
PDE8A-
-
-
-
3Gain-
PDE8B-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFRA-
-
-
-
3Gain-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
3Gain-
PDHB-
-
-
-
1Loss-
PDIA3-
-
-
-
3Gain-
PDIA5-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDK2-
-
-
-
1Loss-
PDK4-
-
-
-
3Gain-
PDLIM2-
-
-
-
3Gain-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP1-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDS5A-
-
-
-
3Gain-
PDSS1-
-
-
-
8Amp-
PDXK-
-
-
-
1Loss-
PDXP-
-
-
-
1Loss-
PDYN-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PDZRN4-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEBP1-
-
-
-
1Loss-
PEBP4-
-
-
-
3Gain-
PECAM1-
-
-
-
1Loss-
PEF1-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PELI3-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
3Gain-
PES1-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX10-
-
-
-
1Loss-
PEX11A-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX12-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
1Loss-
PEX26-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
1Loss-
PEX6-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
6Amp-
PFDN6-
-
-
-
1Loss-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
4Gain-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFKP-
-
-
-
4Gain-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
1Loss-
PFN3-
-
-
-
1Loss-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAP3-
-
-
-
1Loss-
PGBD1-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGC-
-
-
-
8Amp-
PGD-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGK2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
1Loss-
PGM2-
-
-
-
3Gain-
PGM2L1-
-
-
-
1Loss-
PGM5-
-
-
-
3Gain-
PGPEP1L-
-
-
-
3Gain-
PGS1-
-
-
-
1Loss-
PHACTR1-
-
-
-
1Loss-
PHACTR3-
-
-
-
7Amp-
PHACTR4-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB-
-
-
-
1Loss-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC3-
-
-
-
1Loss-
PHETA1-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF1-
-
-
-
1Loss-
PHF12-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20L1-
-
-
-
1Loss-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
5Amp-
PHF3-
-
-
-
3Gain-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGDH-
-
-
-
1Loss-
PHGR1-
-
-
-
3Gain-
PHLDA1-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLDB2-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHOSPHO1-
-
-
-
1Loss-
PHOX2A-
-
-
-
1Loss-
PHOX2B-
-
-
-
3Gain-
PHPT1-
-
-
-
5Amp-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PHYHIP-
-
-
-
3Gain-
PHYKPL-
-
-
-
1Loss-
PI15-
-
-
-
1Loss-
PI16-
-
-
-
1Loss-
PI3-
-
-
-
6Amp-
PI4K2B-
-
-
-
3Gain-
PI4KA-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS1-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PICK1-
-
-
-
1Loss-
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGF-
-
-
-
1Loss-
PIGG-
-
-
-
3Gain-
PIGK-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
5Amp-
PIGP-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGS-
-
-
-
1Loss-
PIGT-
-
-
-
6Amp-
PIGV-
-
-
-
1Loss-
PIGW-
-
-
-
1Loss-
PIGX-
-
-
-
1Loss-
PIGZ-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CA-
-
-
-
1Loss-
PIK3CB-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R4-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM1-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINX1-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP4K2B-
-
-
-
1Loss-
PIP4K2C-
-
-
-
1Loss-
PIP4P2-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIP5KL1-
-
-
-
3Gain-
PIPOX-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNC1-
-
-
-
1Loss-
PITPNM1-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
4Gain-
PITX1-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PIWIL2-
-
-
-
3Gain-
PIWIL3-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD2L2-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1-
-
-
-
6Amp-
PKIA-
-
-
-
1Loss-
PKIG-
-
-
-
6Amp-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
3Gain-
PKN2-
-
-
-
1Loss-
PKN3-
-
-
-
3Gain-
PKNOX1-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PKP2-
-
-
-
1Loss-
PLA1A-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
3Gain-
PLA2G4D-
-
-
-
3Gain-
PLA2G4E-
-
-
-
3Gain-
PLA2G4F-
-
-
-
3Gain-
PLA2G5-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLA2G7-
-
-
-
3Gain-
PLAA-
-
-
-
3Gain-
PLAC8L1-
-
-
-
1Loss-
PLAG1-
-
-
-
1Loss-
PLAT-
-
-
-
3Gain-
PLAURp.R167C
Missense
SNP
0.503
2--
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB2-
-
-
-
3Gain-
PLCB3-
-
-
-
1Loss-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCD3-
-
-
-
1Loss-
PLCG1-
-
-
-
6Amp-
PLCH1-
-
-
-
1Loss-
PLCH2-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
1Loss-
PLCXD3-
-
-
-
3Gain-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
1Loss-
PLEKHA2-
-
-
-
3Gain-
PLEKHA5-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHB1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHH2-
-
-
-
1Loss-
PLEKHH3-
-
-
-
1Loss-
PLEKHM1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLGRKT-
-
-
-
1Loss-
PLIN1-
-
-
-
3Gain-
PLIN2-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLOD2-
-
-
-
1Loss-
PLPBP-
-
-
-
3Gain-
PLPP1-
-
-
-
1Loss-
PLPP3-
-
-
-
1Loss-
PLPP5-
-
-
-
3Gain-
PLPP6-
-
-
-
1Loss-
PLPP7-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLS1-
-
-
-
1Loss-
PLSCR1-
-
-
-
1Loss-
PLSCR2-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
1Loss-
PLSCR5-
-
-
-
1Loss-
PLTP-
-
-
-
6Amp-
PLXDC1-
-
-
-
1Loss-
PLXDC2-
-
-
-
3Gain-
PLXNA1-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PLXNC1-
-
-
-
1Loss-
PLXND1-
-
-
-
1Loss-
PM20D1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
3Gain-
PMEPA1-
-
-
-
7Amp-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PML-
-
-
-
3Gain-
PMM1-
-
-
-
1Loss-
PMP2-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMPCA-
-
-
-
5Amp-
PMPCB-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNMA2-
-
-
-
3Gain-
PNMT-
-
-
-
1Loss-
PNOC-
-
-
-
3Gain-
PNPLA1-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA7-
-
-
-
5Amp-
PNPLA8-
-
-
-
3Gain-
PNPO-
-
-
-
1Loss-
PNPT1-
-
-
-
1Loss-
PNRC2-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODN-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
1Loss-
POFUT2-
-
-
-
1Loss-
POGK-
-
-
-
3Gain-
POGLUT1-
-
-
-
1Loss-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLB-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLDIP2-
-
-
-
1Loss-
POLDIP3-
-
-
-
1Loss-
POLE3-
-
-
-
3Gain-
POLG-
-
-
-
3Gain-
POLG2-
-
-
-
1Loss-
POLH-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLN-
-
-
-
3Gain-
POLQ-
-
-
-
1Loss-
POLR1C-
-
-
-
3Gain-
POLR1E-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
3Gain-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2H-
-
-
-
1Loss-
POLR2K-
-
-
-
1Loss-
POLR2M-
-
-
-
3Gain-
POLR3B-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3F-
-
-
-
3Gain-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L12-
-
-
-
3Gain-
POM121L2-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
3Gain-
POMT1-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
1Loss-
POP5-
-
-
-
1Loss-
POPDC2-
-
-
-
1Loss-
POSTNp.X811_splice
Splice_Site
SNP
0.383
2--
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POTEB3-
-
-
-
3Gain-
POTED-
-
-
-
1Loss-
POTEEp.G62Afs*30
Frame_Shift_Del
DEL
0.211
2--
POTEH-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPARD-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1A-
-
-
-
3Gain-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
3Gain-
PPCDC-
-
-
-
3Gain-
PPFIA1-
-
-
-
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPFIBP1-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIAL4C-
-
-
-
3Gain-
PPIAL4D-
-
-
-
3Gain-
PPIAL4G-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPIL1-
-
-
-
1Loss-
PPIL2-
-
-
-
1Loss-
PPIP5K1-
-
-
-
3Gain-
PPIP5K2-
-
-
-
1Loss-
PPM1B-
-
-
-
1Loss-
PPM1D-
-
-
-
1Loss-
PPM1E-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1L-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPME1-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R10-
-
-
-
1Loss-
PPP1R11-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R12B-
-
-
-
3Gain-
PPP1R14B-
-
-
-
1Loss-
PPP1R14D-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16A-
-
-
-
1Loss-
PPP1R17-
-
-
-
3Gain-
PPP1R18-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R1B-
-
-
-
1Loss-
PPP1R2-
-
-
-
1Loss-
PPP1R21-
-
-
-
1Loss-
PPP1R26-
-
-
-
5Amp-
PPP1R27-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
3Gain-
PPP1R3D-
-
-
-
7Amp-
PPP1R3G-
-
-
-
1Loss-
PPP1R42-
-
-
-
1Loss-
PPP1R8-
-
-
-
1Loss-
PPP1R9A-
-
-
-
3Gain-
PPP1R9B-
-
-
-
1Loss-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
3Gain-
PPP2R2A-
-
-
-
3Gain-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
3Gain-
PPP2R3A-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
1Loss-
PPP2R5D-
-
-
-
1Loss-
PPP3CC-
-
-
-
3GainRNA5-8SN2--PPP3CC
PPP3R2-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP4R3B-
-
-
-
1Loss-
PPP6C-
-
-
-
3Gain-
PPP6R2-
-
-
-
1Loss-
PPP6R3-
-
-
-
1Loss-
PPT2-
-
-
-
1Loss-
PPT2-EGFL8-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PPY-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PQLC2L-
-
-
-
1Loss-
PRAC1-
-
-
-
1Loss-
PRAC2-
-
-
-
1Loss-
PRAG1-
-
-
-
3Gain-
PRAME-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF5-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF7-
-
-
-
1Loss-
PRAMEF9-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRCD-
-
-
-
1Loss-
PRCP-
-
-
-
0Del-
PRDM12-
-
-
-
3Gain-
PRDM14-
-
-
-
1Loss-
PRDM15-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3B-
-
-
-
7Amp-
PRELP-
-
-
-
3Gain-
PREPL-
-
-
-
1Loss-
PREX1-
-
-
-
6Amp-
PREX2-
-
-
-
1Loss-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRICKLE4-
-
-
-
8Amp-
PRIM1-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAA2-
-
-
-
1Loss-
PRKAB1-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACAp.D329E
Missense
SNP
0.183
2--
PRKACB-
-
-
-
1Loss-
PRKACG-
-
-
-
3Gain-
PRKAR1A-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKAR2B-
-
-
-
3Gain-
PRKCA-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCE-
-
-
-
1Loss-
PRKCI-
-
-
-
1Loss-
PRKCQ-
-
-
-
4Gain-
PRKCZ-
-
-
-
1Loss-
PRKDCp.R1155*
Nonsense
SNP
0.177
2--
PRL-
-
-
-
1Loss-
PRMT6-
-
-
-
1Loss-
PRMT8-
-
-
-
14Amp-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROCA1-
-
-
-
1Loss-
PRODH-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROM1-
-
-
-
3Gain-
PROP1-
-
-
-
1Loss-
PROS1-
-
-
-
1Loss-
PROSER2-
-
-
-
3Gain-
PROX1-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF19-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
1Loss-
PRPF38B-
-
-
-
1Loss-
PRPF4-
-
-
-
3Gain-
PRPF4B-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPH2-
-
-
-
13Amp-
PRPS1L1-
-
-
-
3Gain-
PRPSAP1-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR11-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR15L-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR23A-
-
-
-
1Loss-
PRR23B-
-
-
-
1Loss-
PRR23C-
-
-
-
1Loss-
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR26-
-
-
-
4Gain-
PRR29-
-
-
-
1Loss-
PRR3-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
1Loss-
PRRC2B-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT1-
-
-
-
1Loss-
PRRT1B-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRRX2-
-
-
-
3Gain-
PRSS16-
-
-
-
1Loss-
PRSS3-
-
-
-
5Amp-
PRSS38-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRTFDC1-
-
-
-
5Amp-
PRTG-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRXL2B-
-
-
-
1Loss-
PRXL2C-
-
-
-
3Gain-
PSAPL1-
-
-
-
3Gain-
PSAT1-
-
-
-
3Gain-
PSCA-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSIP1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA4-
-
-
-
3Gain-
PSMA5-
-
-
-
1Loss-
PSMB3-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMB8-
-
-
-
1Loss-
PSMB9-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMC3IP-
-
-
-
1Loss-
PSMC5-
-
-
-
1Loss-
PSMD11-
-
-
-
1Loss-
PSMD12-
-
-
-
1Loss-
PSMD2-
-
-
-
1Loss-
PSMD3-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD5-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD9-
-
-
-
1Loss-
PSME3-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSMF1-
-
-
-
3Gain-
PSMG1-
-
-
-
1Loss-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
1Loss-
PSORS1C2-
-
-
-
1Loss-
PSRC1-
-
-
-
1Loss-
PSTPIP1-
-
-
-
3Gain-
PSTPIP2-
-
-
-
0Del-
PTAFR-
-
-
-
1Loss-
PTAR1-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTBP2-
-
-
-
1Loss-
PTBP3-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCH1-
-
-
-
3Gain-
PTCHD3-
-
-
-
8Amp-
PTCHD4-
-
-
-
3Gain-
PTCRA-
-
-
-
1Loss-
PTDSS1-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGDR2-
-
-
-
1Loss-
PTGDS-
-
-
-
5Amp-
PTGER3-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGES3-
-
-
-
1Loss-
PTGES3L-
-
-
-
1Loss-
PTGES3L-AARSD1-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTGIS-
-
-
-
6Amp-
PTGR1-
-
-
-
3Gain-
PTGS1-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTHLH-
-
-
-
1Loss-
PTK2-
-
-
-
1Loss-
PTK2B-
-
-
-
3Gain-
PTK7-
-
-
-
3Gain-
PTMS-
-
-
-
1Loss-
PTP4A1-
-
-
-
3Gain-
PTP4A2-
-
-
-
1Loss-
PTP4A3-
-
-
-
1Loss-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPN1-
-
-
-
6Amp-
PTPN11-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN6-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPN9-
-
-
-
3Gain-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
1Loss-
PTPRC-
-
-
-
3Gain-
PTPRCAP-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRT-
-
-
-
6Amp-
PTPRU-
-
-
-
1Loss-
PTPRZ1-
-
-
-
3Gain-
PTRH1-
-
-
-
3Gain-
PTRH2-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
1Loss-
PTTG2-
-
-
-
3Gain-
PTX3-
-
-
-
1Loss-
PUF60-
-
-
-
1Loss-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PUSL1-
-
-
-
3Gain-
PVALB-
-
-
-
1Loss-
PVALEF-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXDNL-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
PXN-
-
-
-
1Loss-
PXT1-
-
-
-
1Loss-
PXYLP1-
-
-
-
1Loss-
PYCR1-
-
-
-
1Loss-
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
1Loss-
PYDC2-
-
-
-
1Loss-
PYGB-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYM1-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PYY-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
3Gain-
QRFP-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QRICH2-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
QSOX2-
-
-
-
5Amp-
QTRT2-
-
-
-
1Loss-
R3HCC1-
-
-
-
3Gain-
R3HDM2-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
6Amp-
RAB11A-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP4-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB14-
-
-
-
3Gain-
RAB18-
-
-
-
8Amp-
RAB1B-
-
-
-
1Loss-
RAB21-
-
-
-
1Loss-
RAB22A-
-
-
-
7Amp-
RAB24-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
1Loss-
RAB30-
-
-
-
3Gain-
RAB34-
-
-
-
1Loss-
RAB35-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB37-
-
-
-
1Loss-
RAB3B-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB3IL1-
-
-
-
1Loss-
RAB3IP-
-
-
-
1Loss-
RAB40B-
-
-
-
1Loss-
RAB42-
-
-
-
1Loss-
RAB43-
-
-
-
1Loss-
RAB44-
-
-
-
1Loss-
RAB4A-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5B-
-
-
-
3Gain-
RAB5C-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RAB6B-
-
-
-
1Loss-
RAB7A-
-
-
-
1Loss-
RAB8B-
-
-
-
3Gain-
RABEP1-
-
-
-
1Loss-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABIF-
-
-
-
3Gain-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
1Loss-
RABL6-
-
-
-
5Amp-
RAC2-
-
-
-
1Loss-
RAC3-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21L1-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
3Gain-
RAD51AP1-
-
-
-
14Amp-
RAD51C-
-
-
-
1Loss-
RAD51D-
-
-
-
1Loss-
RAD51L3-RFFL-
-
-
-
1Loss-
RAD52-
-
-
-
9Amp-
RAD54B-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAD9A-
-
-
-
1Loss-
RAD9B-
-
-
-
1Loss-
RAE1-
-
-
-
7Amp-
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPA2-
-
-
-
3Gain-
RALGDS-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALYL-
-
-
-
1Loss-
RAMAC-
-
-
-
3Gain-
RAMP2-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
1Loss-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1B-
-
-
-
1Loss-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2B-
-
-
-
1Loss-
RAPGEF1-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
1Loss-
RARA-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
1Loss-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
1Loss-
RASAL1-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASEF-
-
-
-
3Gain-
RASGRF1-
-
-
-
3Gain-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
3Gain-
RASGRP2-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL10B-
-
-
-
1Loss-
RASL11B-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF1-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF8-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAVER2-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBBP4-
-
-
-
1Loss-
RBBP5-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBFOX3-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM12B-
-
-
-
1Loss-
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
4Gain-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM24-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
7Amp-
RBM4-
-
-
-
1Loss-
RBM47-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBM4B-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS2-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMX2p.R287H
Missense
SNP
0.345
NDND-
RBMXL1-
-
-
-
1Loss-
RBP1-
-
-
-
1Loss-
RBP2-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJ-
-
-
-
3Gain-
RBPJL-
-
-
-
6Amp-
RBPMS-
-
-
-
3Gain-
RBPMS2-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RC3H2-
-
-
-
3Gain-
RCAN1-
-
-
-
1Loss-
RCAN2-
-
-
-
3Gain-
RCAN3-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
3Gain-
RCE1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN2-
-
-
-
3Gain-
RCOR2-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RDH10-
-
-
-
1Loss-
RDH11p.Q236H
Missense
SNP
0.088
2--
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDM1-
-
-
-
1Loss-
REC114-
-
-
-
3Gain-
RECK-
-
-
-
5Amp-
RECQL-
-
-
-
1Loss-
RECQL4-
-
-
-
1Loss-
RECQL5-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
3Gain-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
REG4-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
3Gain-
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
RELT-
-
-
-
1Loss-
REN-
-
-
-
3Gain-
REP15-
-
-
-
1Loss-
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
REST-
-
-
-
3Gain-
RETNp.A36T
Missense
SNP
0.372
2--
RETNLB-
-
-
-
1Loss-
RETREG3-
-
-
-
1Loss-
REXO4-
-
-
-
3Gain-
RFC1-
-
-
-
3Gain-
RFC4-
-
-
-
1Loss-
RFC5-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFFL-
-
-
-
1Loss-
RFK-
-
-
-
3Gain-
RFLNA-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX4-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGL2-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGMA-
-
-
-
3Gain-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
5Amp-
RGS1-
-
-
-
3Gain-
RGS12-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
1Loss-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
1Loss-
RGS3-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGS9-
-
-
-
1Loss-
RGSL1-
-
-
-
3Gain-
RHAG-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHBDF2-
-
-
-
1Loss-
RHBDL3-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
3Gain-
RHD-
-
-
-
1Loss-
RHEX-
-
-
-
3Gain-
RHNO1-
-
-
-
9Amp-
RHO-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOD-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOH-
-
-
-
3Gain-
RHOQ-
-
-
-
1Loss-
RHOT1-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
3Gain-
RHPN1-
-
-
-
1Loss-
RIBC2-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIC8B-
-
-
-
3Gain-
RICTOR-
-
-
-
3Gain-
RIDA-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIMS2-
-
-
-
1Loss-
RIMS4-
-
-
-
6Amp-
RIN1-
-
-
-
1Loss-
RIN2-
-
-
-
3Gain-
RING1-
-
-
-
1Loss-
RINT1-
-
-
-
3Gain-
RIOK1-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIOX2-
-
-
-
1Loss-
RIPK1-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPOR2-
-
-
-
1Loss-
RIPOR3-
-
-
-
6Amp-
RIPPLY3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RITA1-
-
-
-
1Loss-
RLBP1-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN3-
-
-
-
3Gain-
RMI1-
-
-
-
3Gain-
RMND5B-
-
-
-
1Loss-
RN7SL1-
-
-
-
NDNDRN7SL1--USH1C
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--B2M
RNA5-8SN2--AHCTF1
RNA5-8SN2--PPP3CC
STARD7--RNA5-8SN2
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RND2-
-
-
-
1Loss-
RNF10-
-
-
-
1Loss-
RNF11-
-
-
-
1Loss-
RNF111-
-
-
-
3Gain-
RNF112-
-
-
-
1Loss-
RNF114-
-
-
-
6Amp-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF122-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF13-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF135-
-
-
-
1Loss-
RNF139-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF144B-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF157-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
1Loss-
RNF169-
-
-
-
1Loss-
RNF170-
-
-
-
3Gain-
RNF180-
-
-
-
1Loss-
RNF182-
-
-
-
1Loss-
RNF183-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
1Loss-
RNF2-
-
-
-
3Gain-
RNF20-
-
-
-
3Gain-
RNF207-
-
-
-
1Loss-
RNF208-
-
-
-
5Amp-
RNF212-
-
-
-
3Gain-
RNF213-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF224-
-
-
-
5Amp-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF34-
-
-
-
1Loss-
RNF38-
-
-
-
5Amp-
RNF39-
-
-
-
1Loss-
RNF4-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNF43-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNF5-
-
-
-
1Loss-
RNF7-
-
-
-
1Loss-
RNF8-
-
-
-
1Loss-
RNFT1-
-
-
-
1Loss-
RNFT2-
-
-
-
3Gain-
RNPC3-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1-
-
-
-
1Loss-
ROPN1B-
-
-
-
1Loss-
ROR1-
-
-
-
1Loss-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
1Loss-
RP1L1-
-
-
-
3Gain-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
3Gain-
RPAP2-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL10A-
-
-
-
1Loss-
RPL11-
-
-
-
1Loss-
RPL12-
-
-
-
3Gain-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL19-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL22L1-
-
-
-
1Loss-
RPL23-
-
-
-
1Loss-
RPL23A-
-
-
-
1Loss-
RPL24-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL27-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL35-
-
-
-
3Gain-
RPL35A-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL38-
-
-
-
1Loss-
RPL39L-
-
-
-
1Loss-
RPL4-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL5-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL7-
-
-
-
1Loss-
RPL7A-
-
-
-
3Gain-
RPL7L1-
-
-
-
1Loss-
RPL8-
-
-
-
1Loss-
RPL9-
-
-
-
3Gain-
RPLP0-
-
-
-
1Loss-
RPLP1-
-
-
-
3Gain-
RPN1-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP21-
-
-
-
1Loss-
RPP25-
-
-
-
3Gain-
RPP25L-
-
-
-
5Amp-
RPP38-
-
-
-
3Gain-
RPP40-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPRML-
-
-
-
1Loss-
RPS10-
-
-
-
1Loss-
RPS10-NUDT3-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS17-
-
-
-
3Gain-
RPS18-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS20-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS26-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS27A-
-
-
-
1Loss-
RPS27L-
-
-
-
3Gain-
RPS3-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA1-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KB1-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
5Amp-
RPTOR-
-
-
-
1Loss-
RPUSD2-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RREB1-
-
-
-
1Loss-
RRM2B-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP1-
-
-
-
1Loss-
RRP15-
-
-
-
3Gain-
RRP1B-
-
-
-
1Loss-
RRP36-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
1Loss-
RSAD1-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSF1-
-
-
-
26Amp-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
1Loss-
RSPH14-
-
-
-
1Loss-
RSPH9-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSRC1-
-
-
-
1Loss-
RSRC2-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RSU1-
-
-
-
3Gain-
RTCA-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTF1-
-
-
-
3Gain-
RTF2-
-
-
-
6Amp-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2-
-
-
-
1Loss-
RTP1-
-
-
-
1Loss-
RTP2-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUNDC1-
-
-
-
1Loss-
RUNDC3A-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUNX1-
-
-
-
1Loss-
RUNX1T1-
-
-
-
1Loss-
RUNX2-
-
-
-
3Gain-
RUNX3-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
5Amp-
RUVBL1-
-
-
-
1Loss-
RWDD2B-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RXFP4-
-
-
-
3Gain-
RXRA-
-
-
-
5Amp-
RXRB-
-
-
-
1Loss-
RXRG-
-
-
-
3Gain-
RXYLT1-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
1Loss-
RYR2-
-
-
-
3Gain-
RYR3p.T2538M
Missense
SNP
0.395
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-
S100P-
-
-
-
3Gain-
S100PBP-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR1-
-
-
-
1Loss-
S1PR3-
-
-
-
3Gain-
SAC3D1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SALL1p.P82H
Missense
SNP
0.263
2--
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
6Amp-
SAMD11-
-
-
-
3Gain-
SAMD13-
-
-
-
1Loss-
SAMD14-
-
-
-
1Loss-
SAMD7-
-
-
-
1Loss-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP30BP-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
1Loss-
SAPCD2-
-
-
-
5Amp-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
3Gain-
SARDH-
-
-
-
5Amp-
SARM1-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SARS-
-
-
-
1Loss-
SART1-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SAXO2-
-
-
-
3Gain-
SAYSD1-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBNO1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SBSPON-
-
-
-
1Loss-
SCAF4-
-
-
-
1Loss-
SCAI-
-
-
-
3Gain-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCAPER-
-
-
-
3Gain-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCARB1-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCFD2-
-
-
-
3Gain-
SCG3-
-
-
-
3Gain-
SCG5-
-
-
-
3Gain-
SCGB1A1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
1Loss-
SCHIP1-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN4A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCPEP1-
-
-
-
1Loss-
SCRIB-
-
-
-
1Loss-
SCRN1-
-
-
-
3Gain-
SCRN2-
-
-
-
1Loss-
SCRT1-
-
-
-
1Loss-
SCRT2-
-
-
-
3Gain-
SCUBE1-
-
-
-
1Loss-
SCUBE3-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SCYL3-
-
-
-
3Gain-
SDC2-
-
-
-
1Loss-
SDC3-
-
-
-
1Loss-
SDC4-
-
-
-
6Amp-
SDCBP2-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2-
-
-
-
1Loss-
SDF2L1-
-
-
-
1Loss-
SDF4-
-
-
-
3Gain-
SDHAF2-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDK2-
-
-
-
1Loss-
SDR16C5-
-
-
-
1Loss-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEBOX-
-
-
-
1Loss-
SEC11A-
-
-
-
3Gain-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L1-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC16A-
-
-
-
5Amp-
SEC16B-
-
-
-
3Gain-
SEC22A-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23B-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEC62-
-
-
-
1Loss-
SECISBP2-
-
-
-
3Gain-
SECISBP2L-
-
-
-
3Gain-
SECTM1-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SEL1L3-
-
-
-
3Gain-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENOH-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOP-
-
-
-
3Gain-
SELENOS-
-
-
-
3Gain-
SELENOT-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SELPLG-
-
-
-
1Loss-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA4D-
-
-
-
3Gain-
SEMA5B-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
3Gain-
SEMA7A-
-
-
-
3Gain-
SEMG1-
-
-
-
6Amp-
SEMG2-
-
-
-
6Amp-
SENP2-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
1Loss-
SENP7-
-
-
-
1Loss-
SENP8-
-
-
-
3Gain-
SEPHS1-
-
-
-
3Gain-
SEPSECS-
-
-
-
3Gain-
SEPT3-
-
-
-
1Loss-
SEPT4-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SEPT9-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
3Gain-
SERHL2-
-
-
-
1Loss-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
6Amp-
SERINC4-
-
-
-
3Gain-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
1Loss-
SERPINB1-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB6-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINB9-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERPINI1-
-
-
-
1Loss-
SERPINI2-
-
-
-
1Loss-
SERTAD4-
-
-
-
3Gain-
SESN2-
-
-
-
1Loss-
SET-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD1B-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETMAR-
-
-
-
1Loss-
SETX-
-
-
-
3Gain-
SEZ6-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B2-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
4Gain-
SFN-
-
-
-
1Loss-
SFRP1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFTA2-
-
-
-
1Loss-
SFTPC-
-
-
-
3Gain-
SFXN1-
-
-
-
1Loss-
SGCA-
-
-
-
1Loss-
SGCB-
-
-
-
3Gain-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
3Gain-
SGIP1-
-
-
-
1Loss-
SGK2-
-
-
-
6Amp-
SGK3-
-
-
-
1Loss-
SGK494-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGSH-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B3-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D3C-
-
-
-
3Gain-
SH2D4A-
-
-
-
3Gain-
SH2D5-
-
-
-
1Loss-
SH2D7-
-
-
-
3Gain-
SH3BGR-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP2-
-
-
-
3Gain-
SH3BP5-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3GL2-
-
-
-
1Loss-
SH3GL3-
-
-
-
3Gain-
SH3GLB1-
-
-
-
1Loss-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
3Gain-
SH3TC2-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
1Loss-
SHB-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC3-
-
-
-
3Gain-
SHC4-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
3Gain-
SHISA3-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHISAL2A-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOX2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SI-
-
-
-
1Loss-
SIAH2-
-
-
-
1Loss-
SIDT1-
-
-
-
1Loss-
SIGLEC1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
5Amp-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIN3A-
-
-
-
3Gain-
SINHCAF-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT4-
-
-
-
1Loss-
SIRT5-
-
-
-
1Loss-
SIRT7-
-
-
-
1Loss-
SIT1-
-
-
-
5Amp-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA2-
-
-
-
1Loss-
SKAP1-
-
-
-
1Loss-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
1Loss-
SKIDA1-
-
-
-
3Gain-
SKIL-
-
-
-
1Loss-
SKIV2L-
-
-
-
1Loss-
SKOR1-
-
-
-
3Gain-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SLA-
-
-
-
1Loss-
SLAIN2-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
3Gain-
SLC10A4-
-
-
-
3Gain-
SLC10A5-
-
-
-
1Loss-
SLC12A1-
-
-
-
3Gain-
SLC12A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
6Amp-
SLC12A6-
-
-
-
3Gain-
SLC12A8-
-
-
-
1Loss-
SLC13A1-
-
-
-
3Gain-
SLC13A2-
-
-
-
1Loss-
SLC13A3-
-
-
-
6Amp-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A2-
-
-
-
1Loss-
SLC15A3-
-
-
-
1Loss-
SLC15A4-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A3-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC16A5-
-
-
-
1Loss-
SLC16A6-
-
-
-
1Loss-
SLC16A7-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC17A1-
-
-
-
1Loss-
SLC17A2-
-
-
-
1Loss-
SLC17A3-
-
-
-
1Loss-
SLC17A4-
-
-
-
1Loss-
SLC17A8-
-
-
-
1Loss-
SLC18A1-
-
-
-
3Gain-
SLC19A1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A7-
-
-
-
1Loss-
SLC20A2-
-
-
-
3Gain-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A23-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A7-
-
-
-
3Gain-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
1Loss-
SLC24A3-
-
-
-
3Gain-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
1Loss-
SLC25A10-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A19-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A24-
-
-
-
1Loss-
SLC25A25-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A27-
-
-
-
3Gain-
SLC25A3-
-
-
-
1Loss-
SLC25A32-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
-
-
-
1Loss-
SLC25A37-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A39-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC25A44-
-
-
-
3Gain-
SLC25A45-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
3Gain-
SLC26A1-
-
-
-
3Gain-
SLC26A10-
-
-
-
1Loss-
SLC26A11-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
1Loss-
SLC26A8-
-
-
-
1Loss-
SLC26A9-
-
-
-
3Gain-
SLC27A2-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A4-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
3Gain-
SLC28A2-
-
-
-
3Gain-
SLC28A3-
-
-
-
3Gain-
SLC29A1-
-
-
-
3Gain-
SLC29A2-
-
-
-
1Loss-
SLC2A10-
-
-
-
6Amp-
SLC2A11-
-
-
-
1Loss-
SLC2A14-
-
-
-
1Loss-
SLC2A2-
-
-
-
1Loss-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A5-
-
-
-
1Loss-
SLC2A6-
-
-
-
3Gain-
SLC2A7-
-
-
-
1Loss-
SLC2A8-
-
-
-
3Gain-
SLC2A9-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A2-
-
-
-
1Loss-
SLC30A4-
-
-
-
3Gain-
SLC30A5-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC30A9-
-
-
-
3Gain-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC33A1-
-
-
-
1Loss-
SLC34A1-
-
-
-
1Loss-
SLC34A2-
-
-
-
3Gain-
SLC34A3-
-
-
-
5Amp-
SLC35A3-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
1Loss-
SLC35B1-
-
-
-
1Loss-
SLC35B2-
-
-
-
3Gain-
SLC35B3-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
6Amp-
SLC35D1-
-
-
-
1Loss-
SLC35D2-
-
-
-
3Gain-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E3-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35G2-
-
-
-
1Loss-
SLC35G3-
-
-
-
1Loss-
SLC35G5-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A1-
-
-
-
1Loss-
SLC38A10-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
1Loss-
SLC39A12-
-
-
-
3Gain-
SLC39A14-
-
-
-
3Gain-
SLC39A4-
-
-
-
1Loss-
SLC39A5-
-
-
-
3Gain-
SLC39A7-
-
-
-
1Loss-
SLC3A1-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC41A2-
-
-
-
3Gain-
SLC41A3-
-
-
-
1Loss-
SLC43A1-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A1-
-
-
-
3Gain-
SLC44A3-
-
-
-
1Loss-
SLC44A4-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
1Loss-
SLC46A1-
-
-
-
1Loss-
SLC46A2-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
3Gain-
SLC4A1-
-
-
-
1Loss-
SLC4A11-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
1Loss-
SLC51B-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
1Loss-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A8-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A12-
-
-
-
4Gain-
SLC6A13-
-
-
-
4Gain-
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A4-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A14-
-
-
-
1Loss-
SLC7A2-
-
-
-
3Gain-
SLC7A4-
-
-
-
1Loss-
SLC8A1-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A3R1-
-
-
-
1Loss-
SLC9A8-
-
-
-
6Amp-
SLC9A9-
-
-
-
1Loss-
SLC9C1-
-
-
-
1Loss-
SLC9C2-
-
-
-
3Gain-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLCO2A1-
-
-
-
1Loss-
SLCO2B1-
-
-
-
1Loss-
SLCO3A1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO5A1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLFN11-
-
-
-
1Loss-
SLFN12-
-
-
-
1Loss-
SLFN12L-
-
-
-
1Loss-
SLFN13-
-
-
-
1Loss-
SLFN14-
-
-
-
1Loss-
SLFN5-
-
-
-
1Loss-
SLIT2-
-
-
-
3Gain-
SLIT3-
-
-
-
1Loss-
SLITRK3-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLPI-
-
-
-
6Amp-
SLTM-
-
-
-
3Gain-
SLU7-
-
-
-
1Loss-
SLURP1-
-
-
-
1Loss-
SLURP2-
-
-
-
1Loss-
SLX4IP-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
3Gain-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
3Gain-
SMAD7-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMARCC2-
-
-
-
3Gain-
SMARCD2-
-
-
-
1Loss-
SMARCE1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMC2-
-
-
-
3Gain-
SMC4-
-
-
-
1Loss-
SMC5-
-
-
-
3Gain-
SMCO1-
-
-
-
1Loss-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMG7-
-
-
-
3Gain-
SMG8-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM13-
-
-
-
1Loss-
SMIM14-
-
-
-
3Gain-
SMIM15-
-
-
-
1Loss-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
3Gain-
SMIM20-
-
-
-
3Gain-
SMIM21-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
1Loss-
SMIM29-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM5-
-
-
-
1Loss-
SMIM6-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOX-
-
-
-
3Gain-
SMPDL3B-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMTNL1-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
1Loss-
SMURF2-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
6Amp-
SNAP23-
-
-
-
3Gain-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPC4-
-
-
-
5Amp-
SNAPC5-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNF8-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNORD17-
-
-
-
NDNDFCGBP--SNORD17
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP35-
-
-
-
1Loss-
SNRNP40-
-
-
-
1Loss-
SNRNP48-
-
-
-
1Loss-
SNRPA1-
-
-
-
3Gain-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPC-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNRPE-
-
-
-
3Gain-
SNRPF-
-
-
-
1Loss-
SNRPN-
-
-
-
3Gain-
SNTG1-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNUPN-
-
-
-
3Gain-
SNURF-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX11-
-
-
-
1Loss-
SNX13-
-
-
-
3Gain-
SNX15-
-
-
-
1Loss-
SNX16-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
6Amp-
SNX22-
-
-
-
3Gain-
SNX24-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SNX33-
-
-
-
3Gain-
SNX4-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX7-
-
-
-
1Loss-
SOAT1-
-
-
-
3Gain-
SOCS2-
-
-
-
1Loss-
SOCS3-
-
-
-
1Loss-
SOCS5-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOCS7-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SOD3-
-
-
-
3Gain-
SOHLH1-
-
-
-
5Amp-
SON-
-
-
-
1Loss-
SORBS3-
-
-
-
3Gain-
SORCS1p.F1122I
Missense
SNP
0.500
2--
SORCS2p.T189M
Missense
SNP
0.229
3Gain-
SORD-
-
-
-
3Gain-
SORT1-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOST-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX14-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
1Loss-
SOX2-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
1Loss-
SOX5-
-
-
-
1Loss-
SOX7-
-
-
-
3Gain-
SOX9-
-
-
-
1Loss-
SP2-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP6-
-
-
-
1Loss-
SP8-
-
-
-
3Gain-
SPAAR-
-
-
-
5Amp-
SPACA3-
-
-
-
1Loss-
SPACA9-
-
-
-
3Gain-
SPAG1-
-
-
-
1Loss-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG17-
-
-
-
1Loss-
SPAG5-
-
-
-
1Loss-
SPAG6-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
5Amp-
SPAG9-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA16-
-
-
-
1Loss-
SPATA17-
-
-
-
3Gain-
SPATA18-
-
-
-
3Gain-
SPATA2-
-
-
-
6Amp-
SPATA20-
-
-
-
1Loss-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA25-
-
-
-
6Amp-
SPATA31A1-
-
-
-
3Gain-
SPATA31A3-
-
-
-
3Gain-
SPATA31A5-
-
-
-
3Gain-
SPATA31A7-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA32-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA5L1-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATA8-
-
-
-
3Gain-
SPATA9-
-
-
-
1Loss-
SPATC1-
-
-
-
1Loss-
SPATC1L-
-
-
-
1Loss-
SPATS1-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPDEF-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPDYE1-
-
-
-
3Gain-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEF1-
-
-
-
3Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPHK1-
-
-
-
1Loss-
SPIC-
-
-
-
1Loss-
SPICE1-
-
-
-
1Loss-
SPIN1-
-
-
-
3Gain-
SPINDOC-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK2-
-
-
-
3Gain-
SPINK4-
-
-
-
3Gain-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
3Gain-
SPINT3-
-
-
-
6Amp-
SPINT4-
-
-
-
6Amp-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
7Amp-
SPOCD1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPON2-
-
-
-
3Gain-
SPOP-
-
-
-
1Loss-
SPOUT1-
-
-
-
3Gain-
SPPL2A-
-
-
-
3Gain-
SPPL2C-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPRED1-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY4-
-
-
-
1Loss-
SPRYD4-
-
-
-
3Gain-
SPSB1-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPSB4-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTAN1-
-
-
-
3Gain-
SPTBN1-
-
-
-
1Loss-
SPTBN2-
-
-
-
1Loss-
SPTBN5-
-
-
-
3Gain-
SPTLC1-
-
-
-
3Gain-
SPTLC3-
-
-
-
3Gain-
SPTSSB-
-
-
-
1Loss-
SPX-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQLE-
-
-
-
3Gain-
SQOR-
-
-
-
3Gain-
SRA1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRBD1-
-
-
-
1Loss-
SRCIN1-
-
-
-
1Loss-
SRD5A3-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRF-
-
-
-
3Gain-
SRFBP1-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP3-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRM-
-
-
-
1Loss-
SRP14-
-
-
-
3Gain-
SRP19-
-
-
-
1Loss-
SRP68-
-
-
-
1Loss-
SRP72-
-
-
-
3Gain-
SRP9-
-
-
-
3Gain-
SRPK1-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRPRB-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM4-
-
-
-
1Loss-
SRSF1-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF2-
-
-
-
1Loss-
SRSF3-
-
-
-
1Loss-
SRSF4-
-
-
-
1Loss-
SRSF6-
-
-
-
6Amp-
SRSF7-
-
-
-
1Loss-
SRSF9-
-
-
-
1Loss-
SRXN1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSBP3-
-
-
-
1Loss-
SSH1-
-
-
-
1Loss-
SSH2-
-
-
-
1Loss-
SSH3-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSNA1-
-
-
-
5Amp-
SSPN-
-
-
-
1Loss-
SSR1-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSR3-
-
-
-
1Loss-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SST-
-
-
-
1Loss-
SSTR2-
-
-
-
1Loss-
SSTR3-
-
-
-
1Loss-
SSTR4-
-
-
-
3Gain-
SSU72-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL1-
-
-
-
1Loss-
ST3GAL6-
-
-
-
1Loss-
ST6GAL1-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
1Loss-
ST6GALNAC2-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST8SIA1-
-
-
-
1Loss-
ST8SIA2-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
3Gain-
STAB1-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAC2-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAG1-
-
-
-
1Loss-
STAG2p.W1103L
Missense
SNP
0.161
NDND-
STAM-
-
-
-
3Gain-
STAR-
-
-
-
3Gain-
STARD10-
-
-
-
1Loss-
STARD3-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
3Gain-
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
2-STARD7--RNA5-8SN2
STARD9-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT3-
-
-
-
1Loss-
STAT5A-
-
-
-
1Loss-
STAT5B-
-
-
-
1Loss-
STAT6-
-
-
-
1Loss-
STAU1-
-
-
-
6Amp-
STAU2-
-
-
-
1Loss-
STC1-
-
-
-
3Gain-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STH-
-
-
-
1Loss-
STIM2-
-
-
-
3Gain-
STIMATE-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK3-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK32B-
-
-
-
3Gain-
STK35-
-
-
-
3Gain-
STK38-
-
-
-
1Loss-
STK38L-
-
-
-
1Loss-
STK4-
-
-
-
6Amp-
STKLD1-
-
-
-
3Gain-
STMN1-
-
-
-
1Loss-
STMN2-
-
-
-
1Loss-
STMN4-
-
-
-
3Gain-
STMND1-
-
-
-
1Loss-
STOM-
-
-
-
3Gain-
STOML1-
-
-
-
3Gain-
STOML2-
-
-
-
5Amp-
STON1-GTF2A1L-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG3-
-
-
-
5Amp-
STPG4-
-
-
-
1Loss-
STRA6-
-
-
-
3Gain-
STRADA-
-
-
-
1Loss-
STRAP-
-
-
-
1Loss-
STRBP-
-
-
-
3Gain-
STRC-
-
-
-
3Gain-
STRIP1-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
7Amp-
STX16-NPEPL1-
-
-
-
7Amp-
STX17-
-
-
-
3Gain-
STX18-
-
-
-
3Gain-
STX19-
-
-
-
1Loss-
STX2-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
3Gain-
STXBP3-
-
-
-
1Loss-
STXBP4-
-
-
-
1Loss-
STXBP5L-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUDS3-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SULF1-
-
-
-
1Loss-
SULF2-
-
-
-
6Amp-
SULT1E1p.E245K
Missense
SNP
0.333
2--
SULT4A1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMO2-
-
-
-
1Loss-
SUMO3-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUN3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT3H-
-
-
-
3Gain-
SUPT4H1-
-
-
-
1Loss-
SUPT6H-
-
-
-
1Loss-
SURF1-
-
-
-
3Gain-
SURF2-
-
-
-
3Gain-
SURF4-
-
-
-
3Gain-
SURF6-
-
-
-
3Gain-
SUSD1-
-
-
-
3Gain-
SUSD2-
-
-
-
1Loss-
SUSD3-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SUZ12-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVEP1-
-
-
-
3Gain-
SVIL-
-
-
-
5Amp-
SVOP-
-
-
-
1Loss-
SWI5-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCP2-
-
-
-
7Amp-
SYCP2L-
-
-
-
1Loss-
SYCP3-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNC-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNGAP1-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNGR2-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNM-
-
-
-
3Gain-
SYNPO-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYNRG-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
6Amp-
SYS1-DBNDD2-
-
-
-
6Amp-
SYT1-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT12-
-
-
-
1Loss-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
SYT7-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TAC3-
-
-
-
1Loss-
TAC4-
-
-
-
1Loss-
TACC1-
-
-
-
3Gain-
TACC3-
-
-
-
3Gain-
TACO1-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TADA2A-
-
-
-
1Loss-
TADA2B-
-
-
-
3Gain-
TADA3-
-
-
-
1Loss-
TAF11-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF15-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1L-
-
-
-
1Loss-
TAF3-
-
-
-
4Gain-
TAF5L-
-
-
-
3Gain-
TAF6L-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF8-
-
-
-
13Amp-
TAF9-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TAGLN3-
-
-
-
1Loss-
TAL2-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANC2-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TAOK1-
-
-
-
1Loss-
TAOK3-
-
-
-
1Loss-
TAP1-
-
-
-
1Loss-
TAP2-
-
-
-
1Loss-
TAPBP-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TAPT1-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARDBP-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
3Gain-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D1-
-
-
-
3Gain-
TBC1D10A-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D13-
-
-
-
3Gain-
TBC1D14-
-
-
-
3Gain-
TBC1D15-
-
-
-
1Loss-
TBC1D16-
-
-
-
1Loss-
TBC1D19-
-
-
-
3Gain-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D21-
-
-
-
3Gain-
TBC1D22A-
-
-
-
1Loss-
TBC1D22B-
-
-
-
1Loss-
TBC1D23-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
1Loss-
TBC1D2B-
-
-
-
3Gain-
TBC1D3-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D3B-
-
-
-
1Loss-
TBC1D3C-
-
-
-
1Loss-
TBC1D3D-
-
-
-
1Loss-
TBC1D3F-
-
-
-
1Loss-
TBC1D3G-
-
-
-
1Loss-
TBC1D3H-
-
-
-
1Loss-
TBC1D3I-
-
-
-
1Loss-
TBC1D3K-
-
-
-
1Loss-
TBC1D3L-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D7-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCC-
-
-
-
13Amp-
TBCCD1-
-
-
-
1Loss-
TBCD-
-
-
-
1Loss-
TBCE-
-
-
-
3Gain-
TBK1-
-
-
-
1Loss-
TBKBP1-
-
-
-
1Loss-
TBL1XR1-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBX15-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX2-
-
-
-
1Loss-
TBX20-
-
-
-
3Gain-
TBX21-
-
-
-
1Loss-
TBX3-
-
-
-
3Gain-
TBX4-
-
-
-
1Loss-
TBX5-
-
-
-
3Gain-
TCAIM-
-
-
-
1Loss-
TCAP-
-
-
-
1Loss-
TCEA1-
-
-
-
1Loss-
TCEA3-
-
-
-
1Loss-
TCEANC2-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCF12-
-
-
-
3Gain-
TCF15-
-
-
-
3Gain-
TCF19-
-
-
-
1Loss-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCHH-
-
-
-
5Amp-
TCHHL1-
-
-
-
3Gain-
TCHP-
-
-
-
1Loss-
TCIM-
-
-
-
3Gain-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP11-
-
-
-
1Loss-
TCP11L2-
-
-
-
3Gain-
TCTA-
-
-
-
1Loss-
TCTE1-
-
-
-
3Gain-
TCTEX1D1-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
1Loss-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDP2-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD6-
-
-
-
3Gain-
TDRD7-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
3Gain-
TEAD3-
-
-
-
1Loss-
TEAD4-
-
-
-
9Amp-
TEC-
-
-
-
3Gain-
TECRL-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
1Loss-
TEFM-
-
-
-
1Loss-
TEK-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEN1-
-
-
-
1Loss-
TEN1-CDK3-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM4-
-
-
-
7Amp-
TENT2-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TEPSIN-
-
-
-
1Loss-
TERB2-
-
-
-
3Gain-
TERF1-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESK1-
-
-
-
5Amp-
TESMIN-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX14-
-
-
-
1Loss-
TEX15-
-
-
-
3Gain-
TEX19-
-
-
-
1Loss-
TEX2-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TEX48-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX52-
-
-
-
9Amp-
TEX9-
-
-
-
3Gain-
TF-
-
-
-
1Loss-
TFAP2A-
-
-
-
1Loss-
TFAP2C-
-
-
-
6Amp-
TFAP2Dp.A121V
Missense
SNP
0.660
2--
TFB2M-
-
-
-
3Gain-
TFDP2-
-
-
-
1Loss-
TFEB-
-
-
-
8Amp-
TFEC-
-
-
-
3Gain-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFG-
-
-
-
1Loss-
TFIP11-
-
-
-
1Loss-
TFPI2-
-
-
-
3Gain-
TFRC-
-
-
-
1Loss-
TG-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
1Loss-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
3Gain-
TGM6-
-
-
-
3Gain-
TGM7-
-
-
-
3Gain-
TGS1-
-
-
-
1Loss-
THADA-
-
-
-
1Loss-
THAP1-
-
-
-
3Gain-
THAP10-
-
-
-
3Gain-
THAP12-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THBS1-
-
-
-
3Gain-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEGL-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
1Loss-
THEMIS2-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
5Amp-
THOC1-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
1Loss-
THRA-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
7Amp-
THSD4-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THUMPD2-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIAF1-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TICRR-
-
-
-
3Gain-
TIFAB-
-
-
-
1Loss-
TIGAR-
-
-
-
14Amp-
TIGD3-
-
-
-
1Loss-
TIGD5-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMELESS-
-
-
-
3Gain-
TIMM10-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMMDC1-
-
-
-
1Loss-
TIMP2-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TINAG-
-
-
-
3Gain-
TINAGL1-
-
-
-
1Loss-
TIPARP-
-
-
-
1Loss-
TIPIN-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TJAP1-
-
-
-
3Gain-
TJP1-
-
-
-
3Gain-
TJP2-
-
-
-
3Gain-
TK1-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLCD1-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLE1-
-
-
-
3Gain-
TLE3-
-
-
-
3Gain-
TLE4-
-
-
-
3Gain-
TLK2-
-
-
-
1Loss-
TLN1-
-
-
-
5Amp-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR1-
-
-
-
3Gain-
TLR10-
-
-
-
3Gain-
TLR4-
-
-
-
3Gain-
TLR5-
-
-
-
3Gain-
TLR6-
-
-
-
3Gain-
TLR9-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM2D3-
-
-
-
3Gain-
TM4SF1-
-
-
-
1Loss-
TM4SF18-
-
-
-
1Loss-
TM4SF19-
-
-
-
1Loss-
TM4SF19-TCTEX1D2-
-
-
-
1Loss-
TM4SF4-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
3Gain-
TM7SF2-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM4-
-
-
-
1Loss-
TMC1-
-
-
-
3Gain-
TMC2-
-
-
-
3Gain-
TMC3-
-
-
-
3Gain-
TMC6-
-
-
-
1Loss-
TMC8-
-
-
-
1Loss-
TMCC1-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCC3-
-
-
-
1Loss-
TMCO1-
-
-
-
3Gain-
TMCO4-
-
-
-
1Loss-
TMCO5A-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEM100-
-
-
-
1Loss-
TMEM101-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
1Loss-
TMEM105-
-
-
-
1Loss-
TMEM106A-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
1Loss-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM116-
-
-
-
3Gain-
TMEM119-
-
-
-
1Loss-
TMEM120B-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM128-
-
-
-
3Gain-
TMEM129-
-
-
-
3Gain-
TMEM132A-
-
-
-
1Loss-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132D-
-
-
-
1Loss-
TMEM132E-
-
-
-
1Loss-
TMEM134-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM140-
-
-
-
3Gain-
TMEM141-
-
-
-
5Amp-
TMEM14A-
-
-
-
12Amp-
TMEM14B-
-
-
-
1Loss-
TMEM14C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM151B-
-
-
-
3Gain-
TMEM156-
-
-
-
3Gain-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM165-
-
-
-
3Gain-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM170B-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
3Gain-
TMEM178A-
-
-
-
1Loss-
TMEM179B-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184B-
-
-
-
1Loss-
TMEM189-
-
-
-
6Amp-
TMEM189-UBE2V1-
-
-
-
6Amp-
TMEM19-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM199-
-
-
-
1Loss-
TMEM200B-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
3Gain-
TMEM203-
-
-
-
5Amp-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM210-
-
-
-
5Amp-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM216-
-
-
-
1Loss-
TMEM217-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM230-
-
-
-
3Gain-
TMEM232-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM234-
-
-
-
1Loss-
TMEM235-
-
-
-
1Loss-
TMEM236-
-
-
-
3Gain-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM247-
-
-
-
1Loss-
TMEM249-
-
-
-
1Loss-
TMEM250-
-
-
-
5Amp-
TMEM252-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM263-
-
-
-
3Gain-
TMEM266-
-
-
-
3Gain-
TMEM267-
-
-
-
3Gain-
TMEM268-
-
-
-
3Gain-
TMEM33-
-
-
-
3Gain-
TMEM38B-
-
-
-
3Gain-
TMEM39A-
-
-
-
1Loss-
TMEM39B-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
1Loss-
TMEM45A-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM52B-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM59-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM61-
-
-
-
1Loss-
TMEM62-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63B-
-
-
-
3Gain-
TMEM64-
-
-
-
1Loss-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
1Loss-
TMEM68-
-
-
-
1Loss-
TMEM70-
-
-
-
1Loss-
TMEM71-
-
-
-
1Loss-
TMEM74B-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM87A-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
5Amp-
TMEM9-
-
-
-
3Gain-
TMEM92-
-
-
-
1Loss-
TMEM94-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
1Loss-
TMEM98-
-
-
-
1Loss-
TMEM99-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD1-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPO-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS7-
-
-
-
1Loss-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMUB2-
-
-
-
1Loss-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNC-
-
-
-
3Gain-
TNF-
-
-
-
1Loss-
TNFAIP1-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF21-
-
-
-
3Gain-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF10-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF15-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNIK-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
3Gain-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
1Loss-
TNKS-
-
-
-
3Gain-
TNKS1BP1-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
6Amp-
TNNI1-
-
-
-
3Gain-
TNNI3K-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRp.E232K
Missense
SNP
0.470
3Gain-
TNRC6B-
-
-
-
1Loss-
TNRC6C-
-
-
-
1Loss-
TNS3-
-
-
-
3Gain-
TNS4-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOB1-
-
-
-
1Loss-
TOB2-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
6Amp-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
3Gain-
TOMM6-
-
-
-
8Amp-
TOMM7-
-
-
-
3Gain-
TOMM70-
-
-
-
1Loss-
TONSL-
-
-
-
1Loss-
TOP1-
-
-
-
6Amp-
TOP1MT-
-
-
-
1Loss-
TOP2A-
-
-
-
1Loss-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
1Loss-
TOPORS-
-
-
-
1Loss-
TOR1A-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOR4A-
-
-
-
5Amp-
TOX-
-
-
-
1Loss-
TOX2-
-
-
-
6Amp-
TP53-
-
-
-
1Loss-
TP53BP1-
-
-
-
3Gain-
TP53BP2-
-
-
-
3Gain-
TP53I13-
-
-
-
1Loss-
TP53INP1-
-
-
-
1Loss-
TP53RK-
-
-
-
6Amp-
TP53TG5-
-
-
-
6Amp-
TP63-
-
-
-
1Loss-
TP73-
-
-
-
1Loss-
TPBGL-
-
-
-
1Loss-
TPCN1-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPD52-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPM1-
-
-
-
3Gain-
TPM2-
-
-
-
5Amp-
TPM3-
-
-
-
3Gain-
TPMT-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRA1-
-
-
-
1Loss-
TPRG1-
-
-
-
1Loss-
TPRG1L-
-
-
-
1Loss-
TPRN-
-
-
-
5Amp-
TPST2-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRA2A-
-
-
-
3Gain-
TRA2B-
-
-
-
1Loss-
TRABD-
-
-
-
1Loss-
TRAF1-
-
-
-
3Gain-
TRAF2-
-
-
-
5Amp-
TRAF3IP3-
-
-
-
3Gain-
TRAF4-
-
-
-
1Loss-
TRAF5-
-
-
-
3Gain-
TRAFD1-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
1Loss-
TRAM2-
-
-
-
12Amp-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC9-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
1Loss-
TRDMT1-
-
-
-
3Gain-
TREM1-
-
-
-
8Amp-
TREM2-
-
-
-
8Amp-
TREML1-
-
-
-
8Amp-
TREML2-
-
-
-
8Amp-
TREML4-
-
-
-
8Amp-
TRERF1-
-
-
-
13Amp-
TREX1-
-
-
-
1Loss-
TRH-
-
-
-
1Loss-
TRHDE-
-
-
-
1Loss-
TRIAP1-
-
-
-
1Loss-
TRIB1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM10-
-
-
-
1Loss-
TRIM11-
-
-
-
3Gain-
TRIM14-
-
-
-
3Gain-
TRIM15-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM23-
-
-
-
1Loss-
TRIM25-
-
-
-
1Loss-
TRIM26-
-
-
-
1Loss-
TRIM27-
-
-
-
1Loss-
TRIM31-
-
-
-
1Loss-
TRIM32-
-
-
-
3Gain-
TRIM35-
-
-
-
3Gain-
TRIM36-
-
-
-
1Loss-
TRIM37-
-
-
-
1Loss-
TRIM38-
-
-
-
1Loss-
TRIM39-
-
-
-
1Loss-
TRIM39-RPP21-
-
-
-
1Loss-
TRIM40-
-
-
-
1Loss-
TRIM42-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM47-
-
-
-
1Loss-
TRIM55-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM59-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM65-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP4-
-
-
-
3Gain-
TRIQK-
-
-
-
1Loss-
TRMO-
-
-
-
3Gain-
TRMT10B-
-
-
-
3Gain-
TRMT10C-
-
-
-
1Loss-
TRMT112-
-
-
-
1Loss-
TRMT12-
-
-
-
3Gain-
TRMT13-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
1Loss-
TRMT44-
-
-
-
3Gain-
TRMT6-
-
-
-
3Gain-
TRMT9B-
-
-
-
3Gain-
TRMU-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
1Loss-
TRPC1-
-
-
-
1Loss-
TRPC7-
-
-
-
1Loss-
TRPM1-
-
-
-
3Gain-
TRPM2-
-
-
-
1Loss-
TRPM3-
-
-
-
3Gain-
TRPM4p.R421W
Missense
SNP
0.198
2--
TRPM6-
-
-
-
3Gain-
TRPM7-
-
-
-
3Gain-
TRPT1-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TRUB2-
-
-
-
3Gain-
TSACC-
-
-
-
3Gain-
TSC1-
-
-
-
3Gain-
TSC22D2-
-
-
-
1Loss-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSEN54-
-
-
-
1Loss-
TSFM-
-
-
-
1Loss-
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
6Amp-
TSKU-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN10-
-
-
-
1Loss-
TSPAN11-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN3-
-
-
-
3Gain-
TSPAN31-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
1Loss-
TSPAN9-
-
-
-
14Amp-
TSPEAR-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSPO2-
-
-
-
8Amp-
TSPOAP1-
-
-
-
1Loss-
TSPYL5-
-
-
-
1Loss-
TSPYL6-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TSSK3-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTBK1-
-
-
-
3Gain-
TTBK2-
-
-
-
3Gain-
TTC1-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC14-
-
-
-
1Loss-
TTC16-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC23-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC25-
-
-
-
1Loss-
TTC28-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39A-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC4-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTC9C-
-
-
-
1Loss-
TTF1-
-
-
-
3Gain-
TTI2-
-
-
-
3Gain-
TTLL1-
-
-
-
1Loss-
TTLL10-
-
-
-
3Gain-
TTLL11-
-
-
-
3Gain-
TTLL12-
-
-
-
1Loss-
TTLL13P-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL6-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTPA-
-
-
-
1Loss-
TTPAL-
-
-
-
6Amp-
TTYH2-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
4Gain-
TUBB-
-
-
-
1Loss-
TUBB1-
-
-
-
7Amp-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB4B-
-
-
-
5Amp-
TUBB8-
-
-
-
1Loss-
TUBD1-
-
-
-
1Loss-
TUBG1-
-
-
-
1Loss-
TUBG2-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP4-
-
-
-
3Gain-
TUBGCP5-
-
-
-
3Gain-
TUBGCP6-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
1Loss-
TULP3-
-
-
-
9Amp-
TUSC1-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
3Gain-
TUT1-
-
-
-
1Loss-
TUT4-
-
-
-
1Loss-
TUT7-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXK-
-
-
-
3Gain-
TXLNA-
-
-
-
1Loss-
TXN-
-
-
-
3Gain-
TXN2-
-
-
-
1Loss-
TXNDC12-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC5-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD1-
-
-
-
3Gain-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYRO3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYW3-
-
-
-
1Loss-
U2AF1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2SURP-
-
-
-
1Loss-
UACA-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UAP1L1-
-
-
-
5Amp-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC1-
-
-
-
5Amp-
UBALD2-
-
-
-
1Loss-
UBAP1-
-
-
-
5Amp-
UBAP1L-
-
-
-
3Gain-
UBAP2-
-
-
-
5Amp-
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBD-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
6Amp-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J2-
-
-
-
3Gain-
UBE2K-
-
-
-
3Gain-
UBE2L3-
-
-
-
1Loss-
UBE2L6-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2O-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2R2-
-
-
-
5Amp-
UBE2T-
-
-
-
3Gain-
UBE2U-
-
-
-
1Loss-
UBE2V1-
-
-
-
6Amp-
UBE2W-
-
-
-
1Loss-
UBE2Z-
-
-
-
1Loss-
UBE3A-
-
-
-
3Gain-
UBE3B-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL4B-
-
-
-
1Loss-
UBL7-
-
-
-
3Gain-
UBLCP1-
-
-
-
1Loss-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR1-
-
-
-
3Gain-
UBR2-
-
-
-
13Amp-
UBR4-
-
-
-
1Loss-
UBR5-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBTF-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN7-
-
-
-
1Loss-
UBXN8-
-
-
-
3Gain-
UCHL1-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK1-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
4Gain-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
1Loss-
UGCG-
-
-
-
3Gain-
UGDH-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UHRF1BP1-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
3Gain-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMODL1-
-
-
-
1Loss-
UMPS-
-
-
-
1Loss-
UNC119-
-
-
-
1Loss-
UNC119B-
-
-
-
1Loss-
UNC13B-
-
-
-
5Amp-
UNC13C-
-
-
-
3Gain-
UNC13D-
-
-
-
1Loss-
UNC45A-
-
-
-
3Gain-
UNC45B-
-
-
-
1Loss-
UNC5A-
-
-
-
1Loss-
UNC5CL-
-
-
-
8Amp-
UNC5D-
-
-
-
3Gain-
UNC93B1-
-
-
-
1Loss-
UNG-
-
-
-
1Loss-
UNK-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPF2-
-
-
-
3Gain-
UPK1B-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UPP1-
-
-
-
3Gain-
UQCC2-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCR10-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRB-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URM1-
-
-
-
3Gain-
UROC1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USF3-
-
-
-
1Loss-
USH1C-
-
-
-
2-AL139099.4--USH1C
RN7SL1--USH1C
USH1G-
-
-
-
1Loss-
USH2A-
-
-
-
3Gain-
USP1-
-
-
-
1Loss-
USP13-
-
-
-
1Loss-
USP14-
-
-
-
1Loss-
USP15-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP17L13-
-
-
-
3Gain-
USP17L15-
-
-
-
3Gain-
USP17L18-
-
-
-
3Gain-
USP17L2-
-
-
-
3Gain-
USP17L24-
-
-
-
3Gain-
USP17L25-
-
-
-
3Gain-
USP17L26-
-
-
-
3Gain-
USP17L27-
-
-
-
3Gain-
USP17L28-
-
-
-
3Gain-
USP17L29-
-
-
-
3Gain-
USP17L30-
-
-
-
3Gain-
USP17L5-
-
-
-
3Gain-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP20-
-
-
-
3Gain-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP24-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP3-
-
-
-
3Gain-
USP30-
-
-
-
1Loss-
USP32-
-
-
-
1Loss-
USP33-
-
-
-
1Loss-
USP35-
-
-
-
7Amp-
USP36-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP46-
-
-
-
3Gain-
USP48-
-
-
-
1Loss-
USP49-
-
-
-
8Amp-
USP5-
-
-
-
1Loss-
USP50-
-
-
-
3Gain-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
3Gain-
USP8-
-
-
-
3Gain-
UTF1-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP18-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP6-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
UTS2B-
-
-
-
1Loss-
UTS2R-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
3Gain-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
7Amp-
VARS-
-
-
-
1Loss-
VARS2-
-
-
-
1Loss-
VASH2-
-
-
-
3Gain-
VAT1-
-
-
-
1Loss-
VAV2-
-
-
-
5Amp-
VAV3-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCP-
-
-
-
5Amp-
VCPIP1-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC3-
-
-
-
3Gain-
VEGFA-
-
-
-
3Gain-
VEGFB-
-
-
-
1Loss-
VEPH1-
-
-
-
1Loss-
VEZF1-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIM-
-
-
-
3Gain-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
1Loss-
VLDLR-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13A-
-
-
-
3Gain-
VPS13B-
-
-
-
1Loss-
VPS13C-
-
-
-
3Gain-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS18-
-
-
-
3Gain-
VPS25-
-
-
-
1Loss-
VPS26C-
-
-
-
1Loss-
VPS28-
-
-
-
1Loss-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS33B-
-
-
-
3Gain-
VPS37A-
-
-
-
3Gain-
VPS37B-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS39-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS51-
-
-
-
1Loss-
VPS52-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSX1-
-
-
-
3Gain-
VTCN1-
-
-
-
1Loss-
VTN-
-
-
-
1Loss-
VWA1-
-
-
-
3Gain-
VWA5B1-
-
-
-
1Loss-
VWA5B2-
-
-
-
1Loss-
VWA7-
-
-
-
1Loss-
VWC2-
-
-
-
3Gain-
VWCE-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
1Loss-
VXN-
-
-
-
1Loss-
WAC-
-
-
-
5Amp-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP11-
-
-
-
1Loss-
WBP2-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WDR1-
-
-
-
3Gain-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
3Gain-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR34-
-
-
-
3Gain-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
4Gain-
WDR38-
-
-
-
3Gain-
WDR4-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR45B-
-
-
-
1Loss-
WDR46-
-
-
-
1Loss-
WDR47-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
1Loss-
WDR5-
-
-
-
5Amp-
WDR53-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR61-
-
-
-
3Gain-
WDR63-
-
-
-
1Loss-
WDR64-
-
-
-
3Gain-
WDR66-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
3Gain-
WDR74-
-
-
-
1Loss-
WDR76-
-
-
-
3Gain-
WDR78-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR86p.A157T
Missense
SNP
0.458
2--
WDR93-
-
-
-
3Gain-
WDR97-
-
-
-
1Loss-
WDTC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
6Amp-
WFDC10B-
-
-
-
6Amp-
WFDC11-
-
-
-
6Amp-
WFDC12-
-
-
-
6Amp-
WFDC13-
-
-
-
6Amp-
WFDC2-
-
-
-
6Amp-
WFDC3-
-
-
-
6Amp-
WFDC5-
-
-
-
6Amp-
WFDC6-
-
-
-
6Amp-
WFDC8-
-
-
-
6Amp-
WFDC9-
-
-
-
6Amp-
WFIKKN2-
-
-
-
1Loss-
WFS1-
-
-
-
3Gain-
WHAMM-
-
-
-
3Gain-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WIPF2-
-
-
-
1Loss-
WIPF3-
-
-
-
3Gain-
WIPI1-
-
-
-
1Loss-
WISP1-
-
-
-
1Loss-
WISP2-
-
-
-
6Amp-
WLS-
-
-
-
1Loss-
WNK1-
-
-
-
4Gain-
WNK2-
-
-
-
3Gain-
WNK4-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT3-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT5B-
-
-
-
9Amp-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WNT9B-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRN-
-
-
-
3Gain-
WRNIP1-
-
-
-
1Loss-
WSB1-
-
-
-
1Loss-
WSB2-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWTR1-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
1Loss-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR8-
-
-
-
1Loss-
XKR9-
-
-
-
1Loss-
XPA-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPO5-
-
-
-
3Gain-
XPO7-
-
-
-
3Gain-
XPOT-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC4-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XRN1-
-
-
-
1Loss-
XRN2-
-
-
-
3Gain-
XRRA1-
-
-
-
1Loss-
XXYLT1-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
XYLT2-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YARS-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS2-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YIF1A-
-
-
-
1Loss-
YIPF1-
-
-
-
1Loss-
YIPF3-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YME1L1-
-
-
-
8Amp-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
1Loss-
YPEL2-
-
-
-
1Loss-
YPEL4-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
1Loss-
YWHAB-
-
-
-
6Amp-
YWHAE-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
Z98752.3-
-
-
-
6Amp-
ZACN-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZAR1-
-
-
-
3Gain-
ZBBX-
-
-
-
1Loss-
ZBED2-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
1Loss-
ZBP1-
-
-
-
7Amp-
ZBTB10-
-
-
-
1Loss-
ZBTB11-
-
-
-
1Loss-
ZBTB12-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB20-
-
-
-
1Loss-
ZBTB21-
-
-
-
1Loss-
ZBTB22-
-
-
-
1Loss-
ZBTB26-
-
-
-
3Gain-
ZBTB3-
-
-
-
1Loss-
ZBTB34-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB38-
-
-
-
1Loss-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB41-
-
-
-
3Gain-
ZBTB43-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB49-
-
-
-
3Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
3Gain-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
1Loss-
ZBTB8B-
-
-
-
1Loss-
ZBTB8OS-
-
-
-
1Loss-
ZBTB9-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
1Loss-
ZC3H10-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H3-
-
-
-
1Loss-
ZC3H7B-
-
-
-
1Loss-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC2p.Q833P
Missense
SNP
0.093
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC4-
-
-
-
3Gain-
ZCCHC7-
-
-
-
3Gain-
ZCCHC8-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
4Gain-
ZDHHC11B-
-
-
-
4Gain-
ZDHHC12-
-
-
-
3Gain-
ZDHHC17-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZDHHC19-
-
-
-
1Loss-
ZDHHC2-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC23-
-
-
-
1Loss-
ZDHHC24-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZDHHC5-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZEB1-
-
-
-
5Amp-
ZER1-
-
-
-
3Gain-
ZFAND1-
-
-
-
1Loss-
ZFAND3-
-
-
-
1Loss-
ZFAND5-
-
-
-
3Gain-
ZFAND6-
-
-
-
3Gain-
ZFAT-
-
-
-
1Loss-
ZFC3H1-
-
-
-
1Loss-
ZFHX4-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP36L2-
-
-
-
1Loss-
ZFP37-
-
-
-
3Gain-
ZFP41-
-
-
-
1Loss-
ZFP57-
-
-
-
1Loss-
ZFP64-
-
-
-
6Amp-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM2-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
3Gain-
ZFYVE28-
-
-
-
3Gain-
ZFYVE9-
-
-
-
1Loss-
ZHX3-
-
-
-
6Amp-
ZIC1-
-
-
-
1Loss-
ZIC4-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
1Loss-
ZKSCAN4-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT3-
-
-
-
1Loss-
ZMAT4-
-
-
-
3Gain-
ZMAT5-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND19-
-
-
-
5Amp-
ZMYND8-
-
-
-
6Amp-
ZNF10-
-
-
-
1Loss-
ZNF106-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF133-
-
-
-
3Gain-
ZNF140-
-
-
-
1Loss-
ZNF141-
-
-
-
3Gain-
ZNF148-
-
-
-
1Loss-
ZNF16-
-
-
-
1Loss-
ZNF165-
-
-
-
1Loss-
ZNF169-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF184-
-
-
-
1Loss-
ZNF189-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF207-
-
-
-
1Loss-
ZNF217-
-
-
-
6Amp-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF248-
-
-
-
5Amp-
ZNF25-
-
-
-
5Amp-
ZNF250-
-
-
-
1Loss-
ZNF251-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF280D-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
1Loss-
ZNF318-
-
-
-
3Gain-
ZNF322-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF334-
-
-
-
6Amp-
ZNF335-
-
-
-
6Amp-
ZNF337-
-
-
-
3Gain-
ZNF33A-
-
-
-
5Amp-
ZNF34-
-
-
-
1Loss-
ZNF343-
-
-
-
3Gain-
ZNF346-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF37A-
-
-
-
5Amp-
ZNF384-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF385C-
-
-
-
1Loss-
ZNF391-
-
-
-
1Loss-
ZNF395-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF436-
-
-
-
1Loss-
ZNF438-
-
-
-
5Amp-
ZNF445-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF462-
-
-
-
3Gain-
ZNF474-
-
-
-
1Loss-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF496-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
1Loss-
ZNF518B-
-
-
-
5Amp-
ZNF532-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF592-
-
-
-
3Gain-
ZNF593-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF595-
-
-
-
3Gain-
ZNF596-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
3Gain-
ZNF618-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
1Loss-
ZNF624-
-
-
-
1Loss-
ZNF639-
-
-
-
1Loss-
ZNF644-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF652-
-
-
-
1Loss-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF664-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF676p.N403K
Missense
SNP
0.421
2--
ZNF678-
-
-
-
3Gain-
ZNF683-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF696-
-
-
-
1Loss-
ZNF697-
-
-
-
1Loss-
ZNF7-
-
-
-
1Loss-
ZNF70-
-
-
-
1Loss-
ZNF703-
-
-
-
3Gain-
ZNF704-
-
-
-
1Loss-
ZNF706-
-
-
-
1Loss-
ZNF707-
-
-
-
1Loss-
ZNF710-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
3Gain-
ZNF721-
-
-
-
3Gain-
ZNF732-
-
-
-
3Gain-
ZNF74-
-
-
-
1Loss-
ZNF750-
-
-
-
1Loss-
ZNF76-
-
-
-
1Loss-
ZNF770-
-
-
-
3Gain-
ZNF774-
-
-
-
3Gain-
ZNF782-
-
-
-
3Gain-
ZNF79-
-
-
-
3Gain-
ZNF80-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF830-
-
-
-
1Loss-
ZNF831-
-
-
-
7Amp-
ZNF84-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF879-
-
-
-
1Loss-
ZNF883-
-
-
-
3Gain-
ZNF891-
-
-
-
1Loss-
ZNFX1-
-
-
-
6Amp-
ZNHIT2-
-
-
-
1Loss-
ZNHIT3-
-
-
-
1Loss-
ZNHIT6-
-
-
-
1Loss-
ZNRD1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
1Loss-
ZP1-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPBP2-
-
-
-
1Loss-
ZPLD1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZSCAN12-
-
-
-
1Loss-
ZSCAN16-
-
-
-
1Loss-
ZSCAN2-
-
-
-
3Gain-
ZSCAN23-
-
-
-
1Loss-
ZSCAN26-
-
-
-
1Loss-
ZSCAN29-
-
-
-
3Gain-
ZSCAN31-
-
-
-
1Loss-
ZSCAN9-
-
-
-
1Loss-
ZSWIM1-
-
-
-
6Amp-
ZSWIM3-
-
-
-
6Amp-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZWILCH-
-
-
-
3Gain-
ZXDC-
-
-
-
1Loss-
ZYG11A-
-
-
-
1Loss-
ZYG11B-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-