PDMR-524269~139-T~E8YH47HQ7-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
3Gain-
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A3GALT2-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
1Loss-
AAAS-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AADAC-
-
-
-
1Loss-
AADACL2-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AADAT-
-
-
-
0Del-
AAGAB-
-
-
-
1Loss-
AAK1-
-
-
-
3Gain-
AAMP-
-
-
-
3Gain-
AAR2-
-
-
-
5Amp-
AASDHp.K745N
Missense
SNP
0.520
1Loss-
AASS-
-
-
-
3Gain-
AATF-
-
-
-
3Gain-
ABCA1-
-
-
-
3Gain-
ABCA12-
-
-
-
3Gain-
ABCA13p.T1217P
Missense
SNP
0.497
3Gain-
ABCA3-
-
-
-
3Gain-
ABCA4-
-
-
-
1Loss-
ABCB1-
-
-
-
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB11-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB6-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC4-
-
-
-
5Amp-
ABCC9-
-
-
-
1Loss-
ABCD2-
-
-
-
1Loss-
ABCD3-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF2-
-
-
-
3Gain-
ABCG5-
-
-
-
3Gain-
ABCG8-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD12-
-
-
-
3Gain-
ABHD13-
-
-
-
4Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABHD16B-
-
-
-
5Amp-
ABHD17B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
1Loss-
ABHD5-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABI2-
-
-
-
3Gain-
ABL1-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC001226.2-
-
-
-
5Amp-
AC002094.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
3Gain-
AC003002.2-
-
-
-
3Gain-
AC003002.3-
-
-
-
3Gain-
AC003005.1-
-
-
-
3Gain-
AC003006.1-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004754.1-
-
-
-
3Gain-
AC004832.3-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC004997.1-
-
-
-
1Loss-
AC005020.2-
-
-
-
3Gain-
AC005041.1-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005697.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC005779.2-
-
-
-
3Gain-
AC006030.1-
-
-
-
3Gain-
AC006059.2-
-
-
-
3Gain-
AC006064.6-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007040.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008687.4-
-
-
-
3Gain-
AC008687.8-
-
-
-
3Gain-
AC008695.1-
-
-
-
1Loss-
AC008750.8-
-
-
-
3Gain-
AC009336.2-
-
-
-
3Gain-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC010327.1-
-
-
-
3Gain-
AC010487.3-
-
-
-
3Gain-
AC010522.1-
-
-
-
3Gain-
AC010619.1-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC011452.1-
-
-
-
3Gain-
AC011473.4-
-
-
-
3Gain-
AC011530.1-
-
-
-
3Gain-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC013717.1-
-
-
-
3Gain-
AC015688.4-
-
-
-
3Gain-
AC017083.3-
-
-
-
3Gain-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018709.1-
-
-
-
0Del-
AC018755.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC020909.1-
-
-
-
3Gain-
AC020915.1-
-
-
-
3Gain-
AC020915.5-
-
-
-
3Gain-
AC020922.1-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC025283.2-
-
-
-
3Gain-
AC025283.3-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026786.1-
-
-
-
0Del-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC037459.1-
-
-
-
3Gain-
AC048338.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068547.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
3Gain-
AC068946.2-
-
-
-
3Gain-
AC069368.1-
-
-
-
1Loss-
AC069444.2-
-
-
-
3Gain-
AC069503.2-
-
-
-
1Loss-
AC073082.1-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073283.3-
-
-
-
3Gain-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC079447.1-
-
-
-
3Gain-
AC079594.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
3Gain-
AC092111.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC093525.1-
-
-
-
3Gain-
AC093525.2-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC093899.2-
-
-
-
3Gain-
AC096887.1-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
3Gain-
AC110275.1-
-
-
-
3Gain-
AC112128.1-
-
-
-
3Gain-
AC112229.3-
-
-
-
3Gain-
AC112504.2-
-
-
-
1Loss-
AC113348.2-
-
-
-
1Loss-
AC114490.2-
-
-
-
1Loss-
AC114490.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
3Gain-
AC134669.1-
-
-
-
3Gain-
AC134980.3-
-
-
-
0Del-
AC135068.1-
-
-
-
0Del-
AC135068.3-
-
-
-
0Del-
AC135178.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACA-
-
-
-
3Gain-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD11-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACADL-
-
-
-
3Gain-
ACADM-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACER2-
-
-
-
3Gain-
ACHE-
-
-
-
3Gain-
ACKR2-
-
-
-
3Gain-
ACKR3-
-
-
-
3Gain-
ACKR4-
-
-
-
1Loss-
ACMSD-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACO2-
-
-
-
1Loss-
ACOD1-
-
-
-
5Amp-
ACOT12-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
5Amp-
ACOXL-
-
-
-
3Gain-
ACP4-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
1Loss-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSL1-
-
-
-
0Del-
ACSL3-
-
-
-
3Gain-
ACSL5-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
5Amp-
ACSS3-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTA2p.K52N
Missense
SNP
0.476
1Loss-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTG2-
-
-
-
3Gain-
ACTL10-
-
-
-
5Amp-
ACTL6B-
-
-
-
3Gain-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTR1A-
-
-
-
1Loss-
ACTR1B-
-
-
-
3Gain-
ACTR2-
-
-
-
3Gain-
ACTR3-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5-
-
-
-
5Amp-
ACTR6-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACVR1-
-
-
-
3Gain-
ACVR1B-
-
-
-
1Loss-
ACVR1Cp.Q265H
Missense
SNP
0.261
3Gain-
ACVR2A-
-
-
-
3Gain-
ACVRL1-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP2-
-
-
-
3Gain-
ADA-
-
-
-
5Amp-
ADA2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18p.R43W
Missense
SNP
0.235
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
3Gain-
ADAM22-
-
-
-
3Gain-
ADAM23-
-
-
-
3Gain-
ADAM28-
-
-
-
3Gain-
ADAM29-
-
-
-
0Del-
ADAM30-
-
-
-
1Loss-
ADAM32-
-
-
-
3Gain-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS1-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS17-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS20-
-
-
-
1Loss-
ADAMTS5-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAP2-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB2-
-
-
-
3Gain-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY6-
-
-
-
1Loss-
ADCY9-
-
-
-
3Gain-
ADCYAP1-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD2-
-
-
-
3Gain-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
3Gain-
ADGRA3-
-
-
-
1Loss-
ADGRB2-
-
-
-
1Loss-
ADGRD1-
-
-
-
1Loss-
ADGRD2-
-
-
-
3Gain-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADGRV1p.P121H
p.S1568R
p.L2660V
Missense
Missense
Missense
SNP
SNP
SNP
0.379
0.633
0.553
1Loss-
ADIG-
-
-
-
5Amp-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADM5-
-
-
-
3Gain-
ADNP-
-
-
-
5Amp-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
5Amp-
ADPRHL2-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
3Gain-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRA2A-
-
-
-
1Loss-
ADRA2B-
-
-
-
3Gain-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
3Gain-
ADRM1-
-
-
-
5Amp-
ADSL-
-
-
-
1Loss-
ADSS-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AEBP2-
-
-
-
1Loss-
AEN-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF3-
-
-
-
3Gain-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AFTPH-
-
-
-
3Gain-
AGA-
-
-
-
0Del-
AGAP1-
-
-
-
3Gain-
AGAP13P-
-
-
-
NDNDAGAP13P--FRMPD2
AGAP2-
-
-
-
1Loss-
AGAP3-
-
-
-
3Gain-
AGAP5-
-
-
-
1Loss-
AGBL1-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGFG1-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
3Gain-
AGL-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGO1-
-
-
-
1Loss-
AGO3-
-
-
-
1Loss-
AGO4-
-
-
-
1Loss-
AGPAT4p.R111C
Missense
SNP
0.325
2--
AGPS-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGT-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGTR1-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AGXT-
-
-
-
3Gain-
AGXT2-
-
-
-
3Gain-
AHCY-
-
-
-
5Amp-
AHCYL1-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHDC1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
3Gain-
AICDA-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AIFM3-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AK1-
-
-
-
3Gain-
AK2-
-
-
-
1Loss-
AK3-
-
-
-
3Gain-
AK5-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
5Amp-
AKAP12p.Q1402H
Missense
SNP
0.259
2--
AKAP13-
-
-
-
1Loss-
AKAP2-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
AKNAD1-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AKT1S1-
-
-
-
3Gain-
AL020996.2-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL031281.2-
-
-
-
0Del-
AL031708.1-
-
-
-
3Gain-
AL031847.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049839.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL109827.1-
-
-
-
5Amp-
AL110118.2-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
5Amp-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
5Amp-
AL121845.3-
-
-
-
5Amp-
AL121900.2-
-
-
-
3Gain-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
3Gain-
AL136531.2-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
3Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162377.3-
-
-
-
5Amp-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL358113.1-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
5Amp-
AL359922.1-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
5Amp-
AL445989.1-
-
-
-
5Amp-
AL449266.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
5Amp-
AL513165.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL592490.1-
-
-
-
5Amp-
AL603832.3-
-
-
-
1Loss-
AL672142.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALAD-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALDH16A1-
-
-
-
3Gain-
ALDH18A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH1B1-
-
-
-
3Gain-
ALDH1L1-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDOB-
-
-
-
3Gain-
ALDOC-
-
-
-
3Gain-
ALG1-
-
-
-
3Gain-
ALG10-
-
-
-
1Loss-
ALG10B-
-
-
-
1Loss-
ALG11-
-
-
-
5Amp-
ALG12-
-
-
-
1Loss-
ALG14-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALG2-
-
-
-
3Gain-
ALG5-
-
-
-
5Amp-
ALKAL1-
-
-
-
3Gain-
ALKBH2-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALKBH5-
-
-
-
1Loss-
ALMS1-
-
-
-
3Gain-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5AP-
-
-
-
5Amp-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
3Gain-
ALPI-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
0Del-
ALPP-
-
-
-
3Gain-
ALS2p.L717R
Missense
SNP
0.235
3Gain-
ALS2CR12-
-
-
-
3Gain-
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
AMACR-
-
-
-
3Gain-
AMBP-
-
-
-
3Gain-
AMDHD1-
-
-
-
1Loss-
AMDHD2-
-
-
-
3Gain-
AMER2-
-
-
-
5Amp-
AMHR2-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
3Gain-
AMN-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMOTL2-
-
-
-
1Loss-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1-
-
-
-
3Gain-
ANAPC1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPT4-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANGPTL7-
-
-
-
1Loss-
ANHX-
-
-
-
0Del-
ANK1-
-
-
-
3Gain-
ANK2p.Q661K
p.H3599N
Missense
Missense
SNP
SNP
0.683
0.705
2--
ANK3-
-
-
-
1Loss-
ANKAR-
-
-
-
3Gain-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKLE2-
-
-
-
0Del-
ANKMY1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD10-
-
-
-
4Gain-
ANKRD12-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD13B-
-
-
-
3Gain-
ANKRD13C-
-
-
-
1Loss-
ANKRD16-
-
-
-
3Gain-
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
3Gain-
ANKRD2-
-
-
-
1Loss-
ANKRD20A3-
-
-
-
3Gain-
ANKRD22-
-
-
-
1Loss-
ANKRD23-
-
-
-
3Gain-
ANKRD26-
-
-
-
3Gain-
ANKRD29-
-
-
-
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD30BL-
-
-
-
3Gain-
ANKRD31p.Q1850H
Missense
SNP
0.563
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD36-
-
-
-
3Gain-
ANKRD36B-
-
-
-
3Gain-
ANKRD36C-
-
-
-
3Gain-
ANKRD37-
-
-
-
0Del-
ANKRD39-
-
-
-
3Gain-
ANKRD44-
-
-
-
3Gain-
ANKRD52-
-
-
-
1Loss-
ANKRD53-
-
-
-
3Gain-
ANKRD54-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD60-
-
-
-
5Amp-
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKS3-
-
-
-
3Gain-
ANKS6-
-
-
-
3Gain-
ANKZF1-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO10-
-
-
-
3Gain-
ANO2-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO7-
-
-
-
3Gain-
ANP32A-
-
-
-
1Loss-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
1Loss-
ANTXR1-
-
-
-
3Gain-
ANXA1-
-
-
-
3Gain-
ANXA10-
-
-
-
0Del-
ANXA11-
-
-
-
1Loss-
ANXA2-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA4-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AOX1-
-
-
-
3Gain-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP1S3-
-
-
-
3Gain-
AP2A1-
-
-
-
3Gain-
AP2B1-
-
-
-
3Gain-
AP2S1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3M2-
-
-
-
3Gain-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBA1-
-
-
-
3Gain-
APBA2-
-
-
-
1Loss-
APBB1IP-
-
-
-
3Gain-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APCp.E1317Kfs*4
Frame_Shift_Del
DEL
1.000
1Loss-
APCDD1-
-
-
-
1Loss-
APCDD1L-
-
-
-
5Amp-
APEH-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
1Loss-
APLF-
-
-
-
3Gain-
APMAP-
-
-
-
3Gain-
APOBEC1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOC1-
-
-
-
3Gain-
APOC2-
-
-
-
3Gain-
APOC4-APOC2-
-
-
-
3Gain-
APOE-
-
-
-
3Gain-
APOF-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APPp.E556*
Nonsense
SNP
0.479
1Loss-
APPL2-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP12A-
-
-
-
3Gain-
AQP12B-
-
-
-
3Gain-
AQP2-
-
-
-
1Loss-
AQP3-
-
-
-
3Gain-
AQP4-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
AQP7-
-
-
-
3Gain-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF3-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARFGAP1-
-
-
-
5Amp-
ARFGAP3-
-
-
-
1Loss-
ARFGEF2-
-
-
-
5Amp-
ARFIP1-
-
-
-
1Loss-
ARFRP1-
-
-
-
5Amp-
ARGLU1-
-
-
-
4Gain-
ARHGAP10-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP15-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP21-
-
-
-
3Gain-
ARHGAP25-
-
-
-
3Gain-
ARHGAP26-
-
-
-
1Loss-
ARHGAP28p.X457_splice
Splice_Site
INS
0.312
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP35-
-
-
-
3Gain-
ARHGAP40-
-
-
-
5Amp-
ARHGAP44-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGDIG-
-
-
-
3Gain-
ARHGEF10-
-
-
-
3Gain-
ARHGEF10Lp.K775Q
Missense
SNP
0.523
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF25-
-
-
-
1Loss-
ARHGEF26-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF33-
-
-
-
3Gain-
ARHGEF37-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARHGEF7-
-
-
-
4Gain-
ARID1A-
-
-
-
1Loss-
ARID2-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID3C-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARID5A-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL11-
-
-
-
5Amp-
ARL14-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL4C-
-
-
-
3Gain-
ARL5A-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARL6IP4-
-
-
-
1Loss-
ARL6IP6-
-
-
-
3Gain-
ARL9-
-
-
-
1Loss-
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMC8-
-
-
-
1Loss-
ARMC9-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARNTL2-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC2-
-
-
-
3Gain-
ARPC3-
-
-
-
1Loss-
ARPC5L-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
3Gain-
ASAP3-
-
-
-
1Loss-
ASB1-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB17p.N177Kfs*21
Frame_Shift_Ins
INS
0.243
1Loss-
ASB18-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB3-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB5-
-
-
-
0Del-
ASB6-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
3Gain-
ASIC1-
-
-
-
1Loss-
ASIC2-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASIC4-
-
-
-
3Gain-
ASIC5-
-
-
-
1Loss-
ASIP-
-
-
-
5Amp-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASNSD1-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPDH-
-
-
-
3Gain-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPHD2-
-
-
-
1Loss-
ASPN-
-
-
-
3Gain-
ASPRV1-
-
-
-
3Gain-
ASS1-
-
-
-
3Gain-
ASTE1-
-
-
-
1Loss-
ASTL-
-
-
-
3Gain-
ASXL1-
-
-
-
5Amp-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATAD5-
-
-
-
3Gain-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF2-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF5-
-
-
-
3Gain-
ATF7-
-
-
-
1Loss-
ATF7IP-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG16L1-
-
-
-
3Gain-
ATG2B-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG4B-
-
-
-
3Gain-
ATG7-
-
-
-
3Gain-
ATG9A-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATIC-
-
-
-
3Gain-
ATL2-
-
-
-
3Gain-
ATN1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOH8-
-
-
-
3Gain-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP11A-
-
-
-
5Amp-
ATP11Bp.R245H
Missense
SNP
0.312
2--
ATP12A-
-
-
-
5Amp-
ATP13A2-
-
-
-
1Loss-
ATP1A1-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2C1-
-
-
-
1Loss-
ATP4B-
-
-
-
5Amp-
ATP5F1A-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5F1C-
-
-
-
3Gain-
ATP5F1E-
-
-
-
5Amp-
ATP5IF1-
-
-
-
0Del-
ATP5MC2-
-
-
-
1Loss-
ATP5MC3-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MGL-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0Cp.I136M
Missense
SNP
0.472
3Gain-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1B1-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
5Amp-
ATP8A1-
-
-
-
1Loss-
ATP8A2p.R625Q
Missense
SNP
0.317
5Amp-
ATP8B1p.V997E
Missense
SNP
1.000
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B4-
-
-
-
1Loss-
ATP9A-
-
-
-
5Amp-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATRNL1-
-
-
-
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AUH-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AUP1-
-
-
-
3Gain-
AURKA-
-
-
-
5Amp-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVL9-
-
-
-
3Gain-
AVP-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXIN1-
-
-
-
3Gain-
AXIN2p.K642N
Missense
SNP
0.295
2--
AZGP1-
-
-
-
3Gain-
AZIN2-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALNT1-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT1-
-
-
-
3Gain-
B3GLCT-
-
-
-
5Amp-
B3GNT2-
-
-
-
3Gain-
B3GNT4-
-
-
-
1Loss-
B3GNT6p.D53E
Missense
SNP
0.368
2--
B3GNT7-
-
-
-
3Gain-
B4GALNT1-
-
-
-
1Loss-
B4GALT1-
-
-
-
3Gain-
B4GALT4-
-
-
-
3Gain-
B4GALT5-
-
-
-
5Amp-
B4GALT6-
-
-
-
1Loss-
B4GALT7-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BAAT-
-
-
-
3Gain-
BACH1-
-
-
-
1Loss-
BAG1-
-
-
-
3Gain-
BAG3-
-
-
-
1Loss-
BAG4-
-
-
-
3Gain-
BAG5-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
1Loss-
BAIAP3-
-
-
-
3Gain-
BANF2-
-
-
-
3Gain-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
3Gain-
BARHL2-
-
-
-
1Loss-
BARX1-
-
-
-
3Gain-
BASP1-
-
-
-
3Gain-
BATF2p.T215N
Missense
SNP
0.364
2--
BATF3-
-
-
-
3Gain-
BAX-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BAZ2A-
-
-
-
1Loss-
BAZ2B-
-
-
-
3Gain-
BBC3-
-
-
-
3Gain-
BBIP1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBS5-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAM-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR3-
-
-
-
1Loss-
BCAS1-
-
-
-
5Amp-
BCAS2-
-
-
-
1Loss-
BCAS4-
-
-
-
5Amp-
BCAT1-
-
-
-
1Loss-
BCAT2-
-
-
-
3Gain-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCHE-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL11A-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
5Amp-
BCL2L10-
-
-
-
1Loss-
BCL2L11-
-
-
-
3Gain-
BCL2L12-
-
-
-
3Gain-
BCL2L13-
-
-
-
1Loss-
BCL2L14-
-
-
-
1Loss-
BCL2L15-
-
-
-
1Loss-
BCL3-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCR-
-
-
-
1Loss-
BCS1L-
-
-
-
3Gain-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND7-
-
-
-
3Gain-
BEST3-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BFSP1-
-
-
-
3Gain-
BFSP2-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE41-
-
-
-
1Loss-
BHMG1-
-
-
-
3Gain-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BICDL1-
-
-
-
1Loss-
BICDL2-
-
-
-
3Gain-
BICRA-
-
-
-
3Gain-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIN2-
-
-
-
1Loss-
BIN3-
-
-
-
3Gain-
BIRC6p.X317_splice
Splice_Site
SNP
0.264
2--
BIRC7-
-
-
-
5Amp-
BIRC8-
-
-
-
3Gain-
BIVM-
-
-
-
4Gain-
BIVM-ERCC5-
-
-
-
4Gain-
BLCAP-
-
-
-
5Amp-
BLK-
-
-
-
3Gain-
BLM-
-
-
-
1Loss-
BLMH-
-
-
-
3Gain-
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S3-
-
-
-
3Gain-
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
3Gain-
BMP1-
-
-
-
3Gain-
BMP10-
-
-
-
3Gain-
BMP2-
-
-
-
3Gain-
BMP7-
-
-
-
5Amp-
BMPER-
-
-
-
3Gain-
BMPR1A-
-
-
-
1Loss-
BMPR2-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC1-
-
-
-
1Loss-
BNC2-
-
-
-
3Gain-
BNIP1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BNIP3L-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BOLA3-
-
-
-
3Gain-
BOLL-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORA-
-
-
-
5Amp-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPI-
-
-
-
5Amp-
BPIFA1-
-
-
-
5Amp-
BPIFA2-
-
-
-
5Amp-
BPIFA3-
-
-
-
5Amp-
BPIFB1-
-
-
-
5Amp-
BPIFB2-
-
-
-
5Amp-
BPIFB3-
-
-
-
5Amp-
BPIFB4-
-
-
-
5Amp-
BPIFB6-
-
-
-
5Amp-
BPIFC-
-
-
-
1Loss-
BPNT1-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAP-
-
-
-
1Loss-
BRAT1-
-
-
-
3Gain-
BRCA2-
-
-
-
5Amp-
BRD1-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRDT-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRI3BP-
-
-
-
1Loss-
BRICD5-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRSK1-
-
-
-
3Gain-
BSDC1-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPH1-
-
-
-
3Gain-
BSPRY-
-
-
-
3Gain-
BST1-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD8-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTG3-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB1-
-
-
-
3Gain-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW1-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
3Gain-
C10orf71p.K511R
p.V538L
p.P1325L
Missense
Missense
Missense
SNP
SNP
SNP
0.340
0.262
0.330
2--
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf49-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf65-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C12orf76-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C16orf71-
-
-
-
3Gain-
C16orf78p.K45T
Missense
SNP
0.320
2--
C16orf89-
-
-
-
3Gain-
C16orf90-
-
-
-
3Gain-
C16orf91-
-
-
-
3Gain-
C16orf96-
-
-
-
3Gain-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
3Gain-
C17orf51-
-
-
-
1Loss-
C17orf75-
-
-
-
3Gain-
C17orf78-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf18-
-
-
-
3Gain-
C19orf48-
-
-
-
3Gain-
C19orf73-
-
-
-
3Gain-
C19orf81-
-
-
-
3Gain-
C19orf84-
-
-
-
3Gain-
C1D-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1GALT1C1L-
-
-
-
3Gain-
C1orf100-
-
-
-
1Loss-
C1orf115-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf131-
-
-
-
3Gain-
C1orf146-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf167p.P1276T
Missense
SNP
0.392
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf198-
-
-
-
3Gain-
C1orf216-
-
-
-
1Loss-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf52-
-
-
-
1Loss-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf94-
-
-
-
1Loss-
C1QA-
-
-
-
0Del-
C1QB-
-
-
-
0Del-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
0Del-
C1QL2-
-
-
-
3Gain-
C1QL3-
-
-
-
3Gain-
C1QL4-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF6-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C1QTNF8-
-
-
-
3Gain-
C1QTNF9-
-
-
-
5Amp-
C1QTNF9B-
-
-
-
5Amp-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
5Amp-
C20orf173-
-
-
-
5Amp-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
5Amp-
C20orf204-
-
-
-
5Amp-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
5Amp-
C20orf96-
-
-
-
3Gain-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4Dp.E209K
Missense
SNP
0.249
3Gain-
C2CD5-
-
-
-
1Loss-
C2CD6-
-
-
-
3Gain-
C2orf15-
-
-
-
3Gain-
C2orf40-
-
-
-
3Gain-
C2orf42-
-
-
-
3Gain-
C2orf49-
-
-
-
3Gain-
C2orf66-
-
-
-
3Gain-
C2orf68-
-
-
-
3Gain-
C2orf69-
-
-
-
3Gain-
C2orf72-
-
-
-
3Gain-
C2orf73-
-
-
-
3Gain-
C2orf74-
-
-
-
3Gain-
C2orf76-
-
-
-
3Gain-
C2orf78-
-
-
-
3Gain-
C2orf80-
-
-
-
3Gain-
C2orf81-
-
-
-
3Gain-
C2orf83-
-
-
-
3Gain-
C2orf88-
-
-
-
3Gain-
C2orf91-
-
-
-
3Gain-
C3AR1-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
3Gain-
C3orf22-
-
-
-
1Loss-
C3orf33-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf58-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf80-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
0Del-
C4orf51-
-
-
-
1Loss-
C5-
-
-
-
3Gain-
C5AR1-
-
-
-
3Gain-
C5AR2-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf74-
-
-
-
3Gain-
C8orf86-
-
-
-
3Gain-
C9-
-
-
-
3Gain-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA10p.R108H
Missense
SNP
0.312
2--
CA11-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA6-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CA9p.P168L
Missense
SNP
0.222
3Gain-
CAAP1-
-
-
-
3Gain-
CAB39-
-
-
-
3Gain-
CAB39L-
-
-
-
5Amp-
CABCOCO1-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABLES2-
-
-
-
5Amp-
CABP1-
-
-
-
1Loss-
CABP5-
-
-
-
3Gain-
CABP7-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1H-
-
-
-
3Gain-
CACNA1I-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB2-
-
-
-
3Gain-
CACNB3-
-
-
-
1Loss-
CACNB4-
-
-
-
3Gain-
CACNG2-
-
-
-
1Loss-
CACNG6-
-
-
-
3Gain-
CACNG7-
-
-
-
3Gain-
CACNG8-
-
-
-
3Gain-
CACUL1-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADM4-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALCOCO1-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALCRL-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM2-
-
-
-
3Gain-
CALM3-
-
-
-
3Gain-
CALML3-
-
-
-
3Gain-
CALML4-
-
-
-
1Loss-
CALML5-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2G-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMKMT-
-
-
-
3Gain-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAND2-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAPG-
-
-
-
3Gain-
CAPN10-
-
-
-
3Gain-
CAPN15-
-
-
-
3Gain-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN2-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZA1-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARD11-
-
-
-
3Gain-
CARD19-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARD8-
-
-
-
3Gain-
CARF-
-
-
-
3Gain-
CARNMT1-
-
-
-
3Gain-
CARSp.K201T
Missense
SNP
0.367
2--
CARS2-
-
-
-
4Gain-
CARTPT-
-
-
-
1Loss-
CASC1-
-
-
-
1Loss-
CASC10-
-
-
-
3Gain-
CASC4-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASKIN1-
-
-
-
3Gain-
CASP10-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
0Del-
CASP7-
-
-
-
1Loss-
CASP8-
-
-
-
3Gain-
CASP9-
-
-
-
1Loss-
CASQ2-
-
-
-
1Loss-
CASS4-
-
-
-
5Amp-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
1Loss-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CASZ1-
-
-
-
1Loss-
CATIP-
-
-
-
3Gain-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CATSPERE-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAVIN2-
-
-
-
3Gain-
CAVIN4-
-
-
-
3Gain-
CBFA2T2-
-
-
-
5Amp-
CBLC-
-
-
-
3Gain-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN4-
-
-
-
5Amp-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBR4-
-
-
-
0Del-
CBWD1-
-
-
-
3Gain-
CBWD2-
-
-
-
3Gain-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBX5-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCAR2-
-
-
-
3Gain-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC106-
-
-
-
3Gain-
CCDC107-
-
-
-
3Gain-
CCDC110-
-
-
-
0Del-
CCDC112-
-
-
-
1Loss-
CCDC114-
-
-
-
3Gain-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC122-
-
-
-
5Amp-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
3Gain-
CCDC134-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC138-
-
-
-
3Gain-
CCDC140-
-
-
-
3Gain-
CCDC141-
-
-
-
3Gain-
CCDC142-
-
-
-
3Gain-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC148-
-
-
-
3Gain-
CCDC149-
-
-
-
1Loss-
CCDC150-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC154-
-
-
-
3Gain-
CCDC155-
-
-
-
3Gain-
CCDC157-
-
-
-
1Loss-
CCDC168p.R5392C
Missense
SNP
0.298
5Amp-
CCDC169-
-
-
-
5Amp-
CCDC169-SOHLH2-
-
-
-
5Amp-
CCDC171-
-
-
-
3Gain-
CCDC172-
-
-
-
1Loss-
CCDC173-
-
-
-
3Gain-
CCDC174-
-
-
-
3Gain-
CCDC178p.F842L
Missense
SNP
0.387
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC184-
-
-
-
1Loss-
CCDC185-
-
-
-
3Gain-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC197-
-
-
-
1Loss-
CCDC25-
-
-
-
3Gain-
CCDC28B-
-
-
-
1Loss-
CCDC3-
-
-
-
3Gain-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC61-
-
-
-
3Gain-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
5Amp-
CCDC71-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC78-
-
-
-
3Gain-
CCDC8-
-
-
-
3Gain-
CCDC80-
-
-
-
3Gain-
CCDC85A-
-
-
-
3Gain-
CCDC85C-
-
-
-
1Loss-
CCDC88A-
-
-
-
3Gain-
CCDC88C-
-
-
-
1Loss-
CCDC9-
-
-
-
3Gain-
CCDC91-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCDC93-
-
-
-
3Gain-
CCDC9B-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCIN-
-
-
-
3Gain-
CCK-
-
-
-
3Gain-
CCKAR-
-
-
-
1Loss-
CCL1-
-
-
-
3Gain-
CCL11-
-
-
-
3Gain-
CCL13-
-
-
-
3Gain-
CCL14-
-
-
-
3Gain-
CCL15-
-
-
-
3Gain-
CCL15-CCL14-
-
-
-
3Gain-
CCL16-
-
-
-
3Gain-
CCL18-
-
-
-
3Gain-
CCL19-
-
-
-
3Gain-
CCL2-
-
-
-
3Gain-
CCL20-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL23-
-
-
-
3Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
3Gain-
CCL3L1-
-
-
-
3Gain-
CCL4-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCL5-
-
-
-
3Gain-
CCL7-
-
-
-
3Gain-
CCL8-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCM2L-
-
-
-
5Amp-
CCNA1-
-
-
-
5Amp-
CCNB1-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNF-
-
-
-
3Gain-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL1-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCNT1-
-
-
-
1Loss-
CCNT2-
-
-
-
3Gain-
CCNYL1-
-
-
-
3Gain-
CCPG1-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCSp.P270T
Missense
SNP
0.317
2--
CCSAP-
-
-
-
3Gain-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT4-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCT6B-
-
-
-
3Gain-
CCT7-
-
-
-
3Gain-
CCT8-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
3Gain-
CD180-
-
-
-
1Loss-
CD2-
-
-
-
1Loss-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD207-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD244p.A239G
Missense
SNP
0.253
2--
CD27-
-
-
-
1Loss-
CD274-
-
-
-
3Gain-
CD276-
-
-
-
1Loss-
CD28-
-
-
-
3Gain-
CD302-
-
-
-
3Gain-
CD33-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD3EAP-
-
-
-
3Gain-
CD4-
-
-
-
1Loss-
CD40-
-
-
-
5Amp-
CD52-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD72-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD80-
-
-
-
3Gain-
CD8A-
-
-
-
3Gain-
CD8B-
-
-
-
3Gain-
CD8B2-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
5Amp-
CDAN1-
-
-
-
1Loss-
CDC123-
-
-
-
3Gain-
CDC14A-
-
-
-
1Loss-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
5Amp-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC26-
-
-
-
3Gain-
CDC37L1-
-
-
-
3Gain-
CDC42-
-
-
-
0Del-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC42EP3-
-
-
-
3Gain-
CDC42EP5-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDCA2-
-
-
-
3Gain-
CDCA3-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA7-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDH1p.X178_splice
Splice_Site
SNP
0.381
2--
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
5Amp-
CDH23-
-
-
-
1Loss-
CDH26-
-
-
-
5Amp-
CDH4-
-
-
-
5Amp-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR1-
-
-
-
1Loss-
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDIP1-
-
-
-
3Gain-
CDK1-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK15-
-
-
-
3Gain-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK20-
-
-
-
3Gain-
CDK2AP1-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5-
-
-
-
3Gain-
CDK5R1-
-
-
-
3Gain-
CDK5R2-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
5Amp-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
5Amp-
CDK9-
-
-
-
3Gain-
CDKL3-
-
-
-
1Loss-
CDKL4-
-
-
-
3Gain-
CDKN1B-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2AIP-
-
-
-
0Del-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
3Gain-
CDNF-
-
-
-
3Gain-
CDO1-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDV3-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
5Amp-
CEACAM16-
-
-
-
3Gain-
CEACAM18-
-
-
-
3Gain-
CEACAM19-
-
-
-
3Gain-
CEACAM20-
-
-
-
3Gain-
CEBPB-
-
-
-
5Amp-
CEBPD-
-
-
-
3Gain-
CECR2-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
0Del-
CELA3B-
-
-
-
0Del-
CELF2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CEMP1-
-
-
-
3Gain-
CENPB-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
5Amp-
CENPK-
-
-
-
1Loss-
CENPM-
-
-
-
1Loss-
CENPP-
-
-
-
3Gain-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPU-
-
-
-
0Del-
CENPV-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP192-
-
-
-
1Loss-
CEP250-
-
-
-
5Amp-
CEP290-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
0Del-
CEP55-
-
-
-
1Loss-
CEP63-
-
-
-
1Loss-
CEP68-
-
-
-
3Gain-
CEP70-
-
-
-
1Loss-
CEP72-
-
-
-
3Gain-
CEP76-
-
-
-
1Loss-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
3Gain-
CERCAM-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERKL-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CERS5-
-
-
-
1Loss-
CERS6-
-
-
-
3Gain-
CETN1-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP157-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP221-
-
-
-
3Gain-
CFAP298-
-
-
-
1Loss-
CFAP36-
-
-
-
3Gain-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP65-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
1Loss-
CFAP97-
-
-
-
0Del-
CFHR4p.F59L
Missense
SNP
0.297
2--
CFLAR-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGB3-
-
-
-
3Gain-
CGB5-
-
-
-
3Gain-
CGB7-
-
-
-
3Gain-
CGB8-
-
-
-
3Gain-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAC2-
-
-
-
3Gain-
CHADL-
-
-
-
1Loss-
CHAMP1-
-
-
-
5Amp-
CHCHD1-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
3Gain-
CHCHD5-
-
-
-
3Gain-
CHCHD6-
-
-
-
1Loss-
CHCHD7-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
5Amp-
CHD7-
-
-
-
3Gain-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHFR-
-
-
-
0Del-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP2A-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHMP3-
-
-
-
3Gain-
CHMP4B-
-
-
-
5Amp-
CHMP5-
-
-
-
3Gain-
CHMP7-
-
-
-
3Gain-
CHN1-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHODL-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHPF-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
1Loss-
CHRNA1-
-
-
-
3Gain-
CHRNA2-
-
-
-
3Gain-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
5Amp-
CHRNA5-
-
-
-
1Loss-
CHRNA6p.G30C
Missense
SNP
0.231
3Gain-
CHRNA7-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRNB4-
-
-
-
1Loss-
CHRND-
-
-
-
3Gain-
CHRNE-
-
-
-
1Loss-
CHRNG-
-
-
-
3Gain-
CHST10-
-
-
-
3Gain-
CHST11-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST2-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST7p.S90R
Missense
SNP
0.421
NDND-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF18-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CIAO1-
-
-
-
3Gain-
CIAO2A-
-
-
-
1Loss-
CIAO3-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CILP-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIR1-
-
-
-
3Gain-
CISD1-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CIZ1-
-
-
-
3Gain-
CKAP2-
-
-
-
5Amp-
CKAP2L-
-
-
-
3Gain-
CKAP4-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKM-
-
-
-
3Gain-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP1-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLASRP-
-
-
-
3Gain-
CLBA1-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN3-
-
-
-
0Del-
CLCN6-
-
-
-
1Loss-
CLCN7-
-
-
-
3Gain-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
1Loss-
CLDN10-
-
-
-
5Amp-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN16-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN18-
-
-
-
1Loss-
CLDN22-
-
-
-
0Del-
CLDN23-
-
-
-
3Gain-
CLDN24-
-
-
-
0Del-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN5-
-
-
-
1Loss-
CLDN6-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDN9-
-
-
-
3Gain-
CLDND2-
-
-
-
3Gain-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
3Gain-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4F-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLGN-
-
-
-
1Loss-
CLHC1-
-
-
-
3Gain-
CLIC4-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLIP2-
-
-
-
3Gain-
CLK1-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN5-
-
-
-
5Amp-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
3Gain-
CLOCK-
-
-
-
1Loss-
CLPTM1-
-
-
-
3Gain-
CLPTM1L-
-
-
-
3Gain-
CLPX-
-
-
-
1Loss-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLSPN-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLSTN2-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLTA-
-
-
-
3Gain-
CLTB-
-
-
-
1Loss-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
3Gain-
CLUAP1-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
5Amp-
CMAS-
-
-
-
1Loss-
CMBL-
-
-
-
3Gain-
CMKLR1-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD2-
-
-
-
5Amp-
CNBP-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA3-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNMD-
-
-
-
5Amp-
CNN3-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM3-
-
-
-
3Gain-
CNNM4-
-
-
-
3Gain-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
3Gain-
CNOT2-
-
-
-
1Loss-
CNOT3-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
1Loss-
CNOT7-
-
-
-
3Gain-
CNOT8-
-
-
-
1Loss-
CNOT9-
-
-
-
3Gain-
CNPPD1-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY2-
-
-
-
1Loss-
CNPY4-
-
-
-
3Gain-
CNR2-
-
-
-
1Loss-
CNRIP1-
-
-
-
3Gain-
CNST-
-
-
-
1Loss-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
3Gain-
CNTN1-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
3Gain-
CNTNAP5-
-
-
-
3Gain-
CNTRL-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA5-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COBLL1-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
5Amp-
COG5-
-
-
-
3Gain-
COG6-
-
-
-
5Amp-
COL11A1-
-
-
-
1Loss-
COL13A1-
-
-
-
1Loss-
COL15A1-
-
-
-
3Gain-
COL16A1-
-
-
-
1Loss-
COL17A1-
-
-
-
1Loss-
COL1A2-
-
-
-
3Gain-
COL20A1-
-
-
-
5Amp-
COL22A1-
-
-
-
1Loss-
COL23A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL26A1-
-
-
-
3Gain-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL4A1-
-
-
-
4Gain-
COL4A2-
-
-
-
4Gain-
COL4A3BP-
-
-
-
1Loss-
COL5A2p.E595D
Missense
SNP
0.301
3Gain-
COL6A3-
-
-
-
3Gain-
COL6A5-
-
-
-
1Loss-
COL6A6-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COL8A2-
-
-
-
1Loss-
COL9A3-
-
-
-
5Amp-
COLEC12-
-
-
-
1Loss-
COMMD1-
-
-
-
3Gain-
COMMD10-
-
-
-
1Loss-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD6-
-
-
-
5Amp-
COMMD7-
-
-
-
5Amp-
COMMD8-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPB2-
-
-
-
1Loss-
COPG1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPRS-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS6-
-
-
-
3Gain-
COPS7A-
-
-
-
1Loss-
COPS7B-
-
-
-
3Gain-
COPS8-
-
-
-
3Gain-
COPS9-
-
-
-
3Gain-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ10B-
-
-
-
3Gain-
COQ4-
-
-
-
3Gain-
COQ5-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
CORIN-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
CORO2A-
-
-
-
3Gain-
CORO2B-
-
-
-
1Loss-
CORO6-
-
-
-
3Gain-
CORO7-
-
-
-
3Gain-
CORO7-PAM16-
-
-
-
3Gain-
CORT-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX4I2-
-
-
-
5Amp-
COX5A-
-
-
-
1Loss-
COX5B-
-
-
-
3Gain-
COX6A1-
-
-
-
1Loss-
COX6B2-
-
-
-
3Gain-
COX7A2L-
-
-
-
3Gain-
COX7B2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CP-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
1Loss-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB1-
-
-
-
1Loss-
CPB2-
-
-
-
5Amp-
CPD-
-
-
-
3Gain-
CPE-
-
-
-
0Del-
CPEB1-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLANE2-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE1-
-
-
-
5Amp-
CPNE3p.S398F
Missense
SNP
0.298
2--
CPNE4-
-
-
-
1Loss-
CPNE8p.R218S
Missense
SNP
0.546
1Loss-
CPO-
-
-
-
3Gain-
CPS1-
-
-
-
3Gain-
CPSF2-
-
-
-
1Loss-
CPSF4-
-
-
-
3Gain-
CPSF6-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CPT1C-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
3Gain-
CPXM2-
-
-
-
1Loss-
CRABP1-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRAMP1-
-
-
-
3Gain-
CRAT-
-
-
-
3Gain-
CRB2-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CREB1-
-
-
-
3Gain-
CREB3-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBP-
-
-
-
3Gain-
CREBL2-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CREG2-
-
-
-
3Gain-
CRELD2-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIPT-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLF3-
-
-
-
3Gain-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CROCC2-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
1Loss-
CRX-
-
-
-
3Gain-
CRY1-
-
-
-
1Loss-
CRYBA1-
-
-
-
3Gain-
CRYBA2-
-
-
-
3Gain-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYGA-
-
-
-
3Gain-
CRYGB-
-
-
-
3Gain-
CRYGC-
-
-
-
3Gain-
CRYGD-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYL1-
-
-
-
5Amp-
CRYZ-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
5Amp-
CSF1-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
3Gain-
CSK-
-
-
-
1Loss-
CSMD2-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
5Amp-
CSNK1D-
-
-
-
2-CSNK1D--RNA5-8SN2
CSNK1E-
-
-
-
1Loss-
CSNK1G1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSPG4-
-
-
-
1Loss-
CSRNP2-
-
-
-
1Loss-
CSRNP3-
-
-
-
3Gain-
CSRP2-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTF1-
-
-
-
5Amp-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
1Loss-
CTAGE15-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
5Amp-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
3Gain-
CTDSP2-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
3Gain-
CTNNA1-
-
-
-
1Loss-
CTNNA2-
-
-
-
3Gain-
CTNNA3-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
3Gain-
CTNNBIP1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
5Amp-
CTNND2-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
5Amp-
CTSB-
-
-
-
3Gain-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
3Gain-
CTSO-
-
-
-
1Loss-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTSZ-
-
-
-
5Amp-
CTTNBP2-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
1Loss-
CTU1-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL3-
-
-
-
3Gain-
CUL4A-
-
-
-
5Amp-
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC22-
-
-
-
3Gain-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR1p.E118D
Missense
SNP
0.228
3Gain-
CXCR2-
-
-
-
3Gain-
CXCR4-
-
-
-
3Gain-
CXXC1-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYBRD1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYLC2-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP1B1-
-
-
-
3Gain-
CYP20A1-
-
-
-
3Gain-
CYP24A1-
-
-
-
5Amp-
CYP26A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
3Gain-
CYP26C1-
-
-
-
1Loss-
CYP27A1-
-
-
-
3Gain-
CYP27B1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2A7p.F173L
Missense
SNP
0.289
2--
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP4V2-
-
-
-
0Del-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
3Gain-
CYP8B1-
-
-
-
3Gain-
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYSLTR2-
-
-
-
5Amp-
CYSTM1-
-
-
-
1Loss-
CYTH2-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
1Loss-
CYTIP-
-
-
-
3Gain-
CYYR1-
-
-
-
1Loss-
D2HGDH-
-
-
-
3Gain-
DAB2-
-
-
-
3Gain-
DAB2IP-
-
-
-
3Gain-
DACH1-
-
-
-
5Amp-
DACT3-
-
-
-
3Gain-
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAO-
-
-
-
1Loss-
DAOA-
-
-
-
4Gain-
DAP-
-
-
-
3Gain-
DAPK1-
-
-
-
3Gain-
DAPK2-
-
-
-
1Loss-
DAPL1-
-
-
-
3Gain-
DARS-
-
-
-
3Gain-
DAW1-
-
-
-
3Gain-
DAZAP2-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBI-
-
-
-
3Gain-
DBN1-
-
-
-
1Loss-
DBNDD2-
-
-
-
5Amp-
DBNL-
-
-
-
3Gain-
DBP-
-
-
-
3Gain-
DBR1-
-
-
-
1Loss-
DBT-
-
-
-
1Loss-
DBX2-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
3Gain-
DCAF12-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF17-
-
-
-
3Gain-
DCAF4L1-
-
-
-
1Loss-
DCAF8L2p.R219H
Missense
SNP
0.995
NDND-
DCANP1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCD-
-
-
-
1Loss-
DCDC2B-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCLK1-
-
-
-
5Amp-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCN-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCT-
-
-
-
5Amp-
DCTD-
-
-
-
0Del-
DCTN1-
-
-
-
3Gain-
DCTN2-
-
-
-
1Loss-
DCTN3-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
3Gain-
DCUN1D2-
-
-
-
5Amp-
DCUN1D4-
-
-
-
1Loss-
DDAH1-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDHD2p.F308V
Missense
SNP
0.230
3Gain-
DDI2-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX18-
-
-
-
3Gain-
DDX20-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX27-
-
-
-
5Amp-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX51-
-
-
-
0Del-
DDX52-
-
-
-
3Gain-
DDX54-
-
-
-
1Loss-
DDX55-
-
-
-
1Loss-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
3Gain-
DDX60-
-
-
-
0Del-
DDX60L-
-
-
-
0Del-
DECR2-
-
-
-
3Gain-
DEFB115-
-
-
-
5Amp-
DEFB116-
-
-
-
5Amp-
DEFB118-
-
-
-
5Amp-
DEFB119-
-
-
-
5Amp-
DEFB121-
-
-
-
5Amp-
DEFB123-
-
-
-
5Amp-
DEFB124-
-
-
-
5Amp-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND1A-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND2C-
-
-
-
1Loss-
DENND2D-
-
-
-
1Loss-
DENND4A-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5B-
-
-
-
1Loss-
DENR-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DES-
-
-
-
3Gain-
DESI1-
-
-
-
1Loss-
DESI2-
-
-
-
1Loss-
DET1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKD-
-
-
-
3Gain-
DGKH-
-
-
-
5Amp-
DGKI-
-
-
-
3Gain-
DGLUCY-
-
-
-
1Loss-
DGUOK-
-
-
-
3Gain-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
3Gain-
DHFR-
-
-
-
1Loss-
DHH-
-
-
-
1Loss-
DHRS11-
-
-
-
3Gain-
DHRS12-
-
-
-
5Amp-
DHRS13-
-
-
-
3Gain-
DHRS3-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHRS9-
-
-
-
3Gain-
DHTKD1-
-
-
-
3Gain-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX34-
-
-
-
3Gain-
DHX35-
-
-
-
5Amp-
DHX36-
-
-
-
1Loss-
DHX37-
-
-
-
1Loss-
DHX57-
-
-
-
3Gain-
DIABLO-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
5Amp-
DICER1-
-
-
-
1Loss-
DIDO1-
-
-
-
5Amp-
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIP2C-
-
-
-
3Gain-
DIRAS2-
-
-
-
3Gain-
DIRC1-
-
-
-
3Gain-
DIS3-
-
-
-
5Amp-
DIS3L-
-
-
-
1Loss-
DIS3L2p.A326V
Missense
SNP
0.482
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DKK4-
-
-
-
3Gain-
DKKL1-
-
-
-
3Gain-
DLC1-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLEU7-
-
-
-
5Amp-
DLG4-
-
-
-
1Loss-
DLG5p.K633T
p.K322N
Missense
Missense
SNP
SNP
0.514
0.516
1Loss-
DLGAP1-
-
-
-
1Loss-
DLGAP2-
-
-
-
3Gain-
DLGAP3-
-
-
-
1Loss-
DLGAP4-
-
-
-
5Amp-
DLK1-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DLX1-
-
-
-
3Gain-
DLX2-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC1-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMPK-
-
-
-
3Gain-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
3Gain-
DMWD-
-
-
-
3Gain-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF3-
-
-
-
3Gain-
DNAAF4-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH10p.K3474M
Missense
SNP
0.435
1Loss-
DNAH11-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH3p.E3184D
p.L3182R
Missense
Missense
SNP
SNP
0.335
0.336
2--
DNAH5p.H3083Ifs*18
Frame_Shift_Del
DEL
0.255
3Gain-
DNAH6-
-
-
-
3Gain-
DNAH7-
-
-
-
3Gain-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJA3-
-
-
-
3Gain-
DNAJA4-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB2-
-
-
-
3Gain-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAJC10-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC15-
-
-
-
5Amp-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC22-
-
-
-
1Loss-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC28-
-
-
-
1Loss-
DNAJC3-
-
-
-
5Amp-
DNAJC30-
-
-
-
3Gain-
DNAJC5-
-
-
-
5Amp-
DNAJC8-
-
-
-
0Del-
DNAJC9-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE1-
-
-
-
3Gain-
DNASE1L2-
-
-
-
3Gain-
DNASE2B-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNER-
-
-
-
3Gain-
DNM1-
-
-
-
3Gain-
DNM1L-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT3B-
-
-
-
5Amp-
DNPEP-
-
-
-
3Gain-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
5Amp-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
3Gain-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
3Gain-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
5Amp-
DOK1-
-
-
-
3Gain-
DOK2-
-
-
-
3Gain-
DOK3-
-
-
-
1Loss-
DOK5-
-
-
-
5Amp-
DOK6-
-
-
-
1Loss-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM1-
-
-
-
5Amp-
DPM2-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP10-
-
-
-
3Gain-
DPP4-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPP8-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPRX-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
1Loss-
DPYD-
-
-
-
1Loss-
DPYSL2-
-
-
-
3Gain-
DPYSL3-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DQX1-
-
-
-
3Gain-
DR1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRAM2-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSN1-
-
-
-
5Amp-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTX3-
-
-
-
1Loss-
DTYMK-
-
-
-
3Gain-
DUOX1-
-
-
-
1Loss-
DUOX2p.E1378*
Nonsense
SNP
1.000
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP11-
-
-
-
3Gain-
DUSP13-
-
-
-
1Loss-
DUSP14-
-
-
-
3Gain-
DUSP15-
-
-
-
5Amp-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP19-
-
-
-
3Gain-
DUSP2-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP28-
-
-
-
3Gain-
DUSP4-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXA-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DVL3p.K466R
Missense
SNP
0.379
2--
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1I2-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
3Gain-
DYNLL1-
-
-
-
1Loss-
DYNLRB1-
-
-
-
5Amp-
DYRK2-
-
-
-
1Loss-
DYSF-
-
-
-
3Gain-
DYTN-
-
-
-
3Gain-
DZANK1-
-
-
-
3Gain-
DZIP1-
-
-
-
5Amp-
DZIP1L-
-
-
-
1Loss-
E2F1-
-
-
-
5Amp-
E2F2-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
E4F1-
-
-
-
3Gain-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
3Gain-
EBF3-
-
-
-
1Loss-
EBF4-
-
-
-
3Gain-
EBLN1-
-
-
-
3Gain-
EBPL-
-
-
-
5Amp-
ECD-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECEL1-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
EDAR-
-
-
-
3Gain-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDEM2-
-
-
-
5Amp-
EDIL3-
-
-
-
1Loss-
EDN3-
-
-
-
5Amp-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
5Amp-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
1Loss-
EEF1A2-
-
-
-
5Amp-
EEF1AKMT1-
-
-
-
5Amp-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1B2-
-
-
-
3Gain-
EEFSEC-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB11-
-
-
-
1Loss-
EFCAB12-
-
-
-
1Loss-
EFCAB2-
-
-
-
1Loss-
EFCAB5-
-
-
-
3Gain-
EFCAB6-
-
-
-
1Loss-
EFCAB8-
-
-
-
5Amp-
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
1Loss-
EFEMP1-
-
-
-
3Gain-
EFHD1-
-
-
-
3Gain-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
4Gain-
EFNB3-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
3Gain-
EGR4-
-
-
-
3Gain-
EHBP1-
-
-
-
3Gain-
EHD2-
-
-
-
3Gain-
EHD4-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF1B-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2AK3-
-
-
-
3Gain-
EIF2AK4-
-
-
-
1Loss-
EIF2B1-
-
-
-
1Loss-
EIF2S2-
-
-
-
5Amp-
EIF2S3B-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
1Loss-
EIF3I-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E2-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
3Gain-
EIF6-
-
-
-
5Amp-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELAVL2-
-
-
-
3Gain-
ELF1-
-
-
-
5Amp-
ELF2-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
5Amp-
ELMOD2-
-
-
-
1Loss-
ELMOD3-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOB-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
3Gain-
ELP5-
-
-
-
1Loss-
ELSPBP1-
-
-
-
3Gain-
EMB-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EME2-
-
-
-
3Gain-
EMG1-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EMILIN3-
-
-
-
5Amp-
EML1-
-
-
-
1Loss-
EML2-
-
-
-
3Gain-
EML4-
-
-
-
3Gain-
EML5-
-
-
-
1Loss-
EML6-
-
-
-
3Gain-
EMP1-
-
-
-
1Loss-
EMP3-
-
-
-
3Gain-
EMX1-
-
-
-
3Gain-
EMX2-
-
-
-
1Loss-
EN1-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOG-
-
-
-
3Gain-
ENDOU-
-
-
-
1Loss-
ENG-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENO1-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
5Amp-
ENPP6-
-
-
-
0Del-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
3Gain-
ENTPD4-
-
-
-
3Gain-
ENTPD6-
-
-
-
3Gain-
ENTPD7-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EP400-
-
-
-
1Loss-
EPAS1-
-
-
-
3Gain-
EPB41-
-
-
-
1Loss-
EPB41L1-
-
-
-
5Amp-
EPB41L3-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPB41L5-
-
-
-
3Gain-
EPB42-
-
-
-
1Loss-
EPC2-
-
-
-
3Gain-
EPCAM-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
1Loss-
EPHA1-
-
-
-
3Gain-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
3Gain-
EPHA8-
-
-
-
0Del-
EPHB1-
-
-
-
1Loss-
EPHB2-
-
-
-
0Del-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPHX4-
-
-
-
1Loss-
EPN1-
-
-
-
3Gain-
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
3Gain-
EPPIN-
-
-
-
5Amp-
EPPIN-WFDC6-
-
-
-
5Amp-
EPRS-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPS8L1-
-
-
-
3Gain-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
5Amp-
EPYC-
-
-
-
1Loss-
EQTN-
-
-
-
3Gain-
ERAL1-
-
-
-
3Gain-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERBB4-
-
-
-
3Gain-
ERBIN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC1-
-
-
-
3Gain-
ERCC2-
-
-
-
3Gain-
ERCC3-
-
-
-
3Gain-
ERCC5-
-
-
-
4Gain-
ERCC6L2-
-
-
-
3Gain-
ERCC8-
-
-
-
1Loss-
ERFE-
-
-
-
3Gain-
ERGIC1-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERGIC3-
-
-
-
5Amp-
ERI1-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH2-
-
-
-
3Gain-
ERICH3-
-
-
-
1Loss-
ERICH6B-
-
-
-
5Amp-
ERLEC1-
-
-
-
3Gain-
ERLIN1-
-
-
-
1Loss-
ERLIN2-
-
-
-
3Gain-
ERMN-
-
-
-
3Gain-
ERMP1-
-
-
-
3Gain-
ERO1B-
-
-
-
3Gain-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERP44-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESCO1-
-
-
-
1Loss-
ESCO2-
-
-
-
3Gain-
ESD-
-
-
-
5Amp-
ESF1-
-
-
-
3Gain-
ESM1-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESPNL-
-
-
-
3Gain-
ESRRG-
-
-
-
3Gain-
ESS2-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ESYT2-
-
-
-
3Gain-
ESYT3-
-
-
-
1Loss-
ETAA1-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETFB-
-
-
-
3Gain-
ETFBKMT-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETHE1-
-
-
-
3Gain-
ETNK1-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV2p.S54R
Missense
SNP
0.329
2--
ETV6-
-
-
-
1Loss-
EVA1A-
-
-
-
3Gain-
EVA1C-
-
-
-
1Loss-
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVI5-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVPLp.R1600Q
Missense
SNP
0.346
2--
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EVX2-
-
-
-
3Gain-
EWSR1-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
3Gain-
EXOC3L2-
-
-
-
3Gain-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC6-
-
-
-
1Loss-
EXOC6B-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC1-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
3Gain-
EXOSC8-
-
-
-
5Amp-
EXTL1-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EXTL3-
-
-
-
3Gain-
EYA2-
-
-
-
5Amp-
EYA3-
-
-
-
0Del-
EZH2-
-
-
-
3Gain-
F10-
-
-
-
5Amp-
F11-
-
-
-
0Del-
F12-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
F7-
-
-
-
5Amp-
FABP1-
-
-
-
3Gain-
FABP3-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAH-
-
-
-
1Loss-
FAHD1-
-
-
-
3Gain-
FAHD2A-
-
-
-
3Gain-
FAHD2B-
-
-
-
3Gain-
FAIM-
-
-
-
1Loss-
FAIM2-
-
-
-
1Loss-
FAM102A-
-
-
-
3Gain-
FAM102B-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM110D-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117B-
-
-
-
3Gain-
FAM118A-
-
-
-
1Loss-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM124Ap.P113L
Missense
SNP
0.299
5Amp-
FAM124B-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM126B-
-
-
-
3Gain-
FAM129B-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
3Gain-
FAM136A-
-
-
-
3Gain-
FAM13B-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
0Del-
FAM149B1-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
4Gain-
FAM160A1-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM160B2-
-
-
-
3Gain-
FAM161A-
-
-
-
3Gain-
FAM166B-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM167B-
-
-
-
1Loss-
FAM168Bp.S74A
Missense
SNP
0.222
2--
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM171B-
-
-
-
3Gain-
FAM172A-
-
-
-
1Loss-
FAM173A-
-
-
-
3Gain-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM178B-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM181A-
-
-
-
1Loss-
FAM184B-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189A2-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
3Gain-
FAM198B-
-
-
-
1Loss-
FAM19A2-
-
-
-
1Loss-
FAM19A3-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM200B-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM205C-
-
-
-
3Gain-
FAM206A-
-
-
-
3Gain-
FAM208A-
-
-
-
1Loss-
FAM208Bp.Q1607H
Missense
SNP
0.506
3Gain-
FAM209A-
-
-
-
5Amp-
FAM209B-
-
-
-
5Amp-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
1Loss-
FAM210B-
-
-
-
5Amp-
FAM214A-
-
-
-
1Loss-
FAM214B-
-
-
-
3Gain-
FAM216A-
-
-
-
1Loss-
FAM216B-
-
-
-
5Amp-
FAM217B-
-
-
-
5Amp-
FAM218A-
-
-
-
0Del-
FAM219A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
3Gain-
FAM222A-
-
-
-
1Loss-
FAM222B-
-
-
-
3Gain-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM229A-
-
-
-
1Loss-
FAM234A-
-
-
-
3Gain-
FAM234B-
-
-
-
1Loss-
FAM237A-
-
-
-
3Gain-
FAM241B-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM43B-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM71E1-
-
-
-
3Gain-
FAM71E2p.P40L
Missense
SNP
0.469
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76A-
-
-
-
1Loss-
FAM81A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83C-
-
-
-
5Amp-
FAM83D-
-
-
-
5Amp-
FAM83E-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM95C-
-
-
-
3Gain-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCC-
-
-
-
3Gain-
FANCFp.G87D
Missense
SNP
0.288
2--
FANCG-
-
-
-
3Gain-
FANCI-
-
-
-
1Loss-
FANCL-
-
-
-
3Gain-
FANK1-
-
-
-
1Loss-
FAP-
-
-
-
3Gain-
FAR2-
-
-
-
1Loss-
FARP1-
-
-
-
5Amp-
FARP2-
-
-
-
3Gain-
FARSB-
-
-
-
3Gain-
FAS-
-
-
-
1Loss-
FASTK-
-
-
-
3Gain-
FASTKD1-
-
-
-
3Gain-
FASTKD2-
-
-
-
3Gain-
FASTKD3-
-
-
-
3Gain-
FASTKD5-
-
-
-
3Gain-
FAT1-
-
-
-
0Del-
FAT2-
-
-
-
1Loss-
FAT3p.V4082M
Missense
SNP
0.318
2--
FAXDC2-
-
-
-
1Loss-
FBH1-
-
-
-
3Gain-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBLN2-
-
-
-
3Gain-
FBLN5-
-
-
-
1Loss-
FBLN7-
-
-
-
3Gain-
FBN1p.C639F
Missense
SNP
0.447
1Loss-
FBN2-
-
-
-
1Loss-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBRSL1-
-
-
-
0Del-
FBXL13-
-
-
-
3Gain-
FBXL15-
-
-
-
1Loss-
FBXL16-
-
-
-
3Gain-
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL22-
-
-
-
1Loss-
FBXL3-
-
-
-
5Amp-
FBXL5-
-
-
-
1Loss-
FBXL7p.L433V
Missense
SNP
0.460
3Gain-
FBXO10-
-
-
-
3Gain-
FBXO11-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
3Gain-
FBXO2-
-
-
-
1Loss-
FBXO21-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO36-
-
-
-
3Gain-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO41-
-
-
-
3Gain-
FBXO42-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO46-
-
-
-
3Gain-
FBXO48-
-
-
-
3Gain-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXO8-
-
-
-
0Del-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
3Gain-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FCAR-
-
-
-
3Gain-
FCER2p.R253Q
Missense
SNP
0.464
2--
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
1Loss-
FCGRT-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCN3-
-
-
-
1Loss-
FDFT1-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L5-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FES-
-
-
-
1Loss-
FEV-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FFAR4-
-
-
-
1Loss-
FGAp.E481D
Missense
SNP
0.556
1Loss-
FGB-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD4-
-
-
-
1Loss-
FGD5-
-
-
-
3Gain-
FGD6-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
1Loss-
FGF14-
-
-
-
5Amp-
FGF17-
-
-
-
3Gain-
FGF18-
-
-
-
1Loss-
FGF20-
-
-
-
3Gain-
FGF21-
-
-
-
3Gain-
FGF7-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
5Amp-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR4-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGL1-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FGR-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHDC1-
-
-
-
1Loss-
FHL2-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FIGLA-
-
-
-
3Gain-
FIGN-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FIS1-
-
-
-
3Gain-
FITM2-
-
-
-
5Amp-
FIZ1-
-
-
-
3Gain-
FKBP11-
-
-
-
1Loss-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP7-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKRP-
-
-
-
3Gain-
FKTN-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2p.S1032A
Missense
SNP
0.227
3Gain-
FLII-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLOT2-
-
-
-
3Gain-
FLRT2-
-
-
-
1Loss-
FLRT3-
-
-
-
1Loss-
FLT1-
-
-
-
5Amp-
FLT3-
-
-
-
5Amp-
FLT3LG-
-
-
-
3Gain-
FLT4-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FLYWCH1-
-
-
-
3Gain-
FLYWCH2-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMN2-
-
-
-
3Gain-
FMNL2-
-
-
-
3Gain-
FMNL3-
-
-
-
1Loss-
FMO5p.D439E
Missense
SNP
0.255
3Gain-
FN1-
-
-
-
3Gain-
FNBP1-
-
-
-
3Gain-
FNBP1L-
-
-
-
1Loss-
FNDC11-
-
-
-
5Amp-
FNDC3A-
-
-
-
5Amp-
FNDC5-
-
-
-
1Loss-
FNDC7-
-
-
-
1Loss-
FNDC8-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FNTA-
-
-
-
3Gain-
FO393400.1-
-
-
-
5Amp-
FOCAD-
-
-
-
3Gain-
FOSB-
-
-
-
3Gain-
FOXA2-
-
-
-
3Gain-
FOXA3-
-
-
-
3Gain-
FOXB1-
-
-
-
1Loss-
FOXB2-
-
-
-
3Gain-
FOXD1-
-
-
-
1Loss-
FOXD4-
-
-
-
3Gain-
FOXD4L1-
-
-
-
3Gain-
FOXD4L3-
-
-
-
3Gain-
FOXD4L4-
-
-
-
3Gain-
FOXD4L5-
-
-
-
3Gain-
FOXD4L6-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXI1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXI3-
-
-
-
3Gain-
FOXJ2-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXL2-
-
-
-
1Loss-
FOXL2NB-
-
-
-
1Loss-
FOXN1-
-
-
-
3Gain-
FOXN2-
-
-
-
3Gain-
FOXN3-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FOXO1-
-
-
-
5Amp-
FOXP2-
-
-
-
3Gain-
FOXRED2-
-
-
-
1Loss-
FOXS1-
-
-
-
5Amp-
FPGS-
-
-
-
3Gain-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FPR1-
-
-
-
3Gain-
FPR2-
-
-
-
3Gain-
FPR3-
-
-
-
3Gain-
FRA10AC1-
-
-
-
1Loss-
FRAS1p.K1368R
Missense
SNP
0.367
2--
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM1-
-
-
-
3Gain-
FREM2p.K1566Nfs*29
p.I1085V
Frame_Shift_Del
Missense
DEL
SNP
0.101
0.309
5Amp-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
0Del-
FRG2-
-
-
-
0Del-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD4A-
-
-
-
3Gain-
FRMD5-
-
-
-
1Loss-
FRMPD1-
-
-
-
3Gain-
FRMPD2-
-
-
-
2-AGAP13P--FRMPD2
FRRS1-
-
-
-
1Loss-
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
1Loss-
FRY-
-
-
-
5Amp-
FRYL-
-
-
-
1Loss-
FRZB-
-
-
-
3Gain-
FSCBp.I367S
Missense
SNP
0.313
2--
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSD1L-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSHR-
-
-
-
3Gain-
FSIP1-
-
-
-
1Loss-
FSIP2-
-
-
-
3Gain-
FST-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FSTL4-
-
-
-
1Loss-
FSTL5-
-
-
-
0Del-
FTCDNL1-
-
-
-
3Gain-
FTL-
-
-
-
3Gain-
FTMT-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUBP3-
-
-
-
3Gain-
FUCA1-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT1-
-
-
-
3Gain-
FUT10-
-
-
-
3Gain-
FUT11-
-
-
-
1Loss-
FUT2-
-
-
-
3Gain-
FUZ-
-
-
-
3Gain-
FXN-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD10-
-
-
-
1Loss-
FZD3-
-
-
-
3Gain-
FZD5-
-
-
-
3Gain-
FZD7-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
G6PC2-
-
-
-
3Gain-
GAB1-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPA-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GAD1-
-
-
-
3Gain-
GAD2-
-
-
-
3Gain-
GADD45G-
-
-
-
3Gain-
GAL3ST1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
3Gain-
GAL3ST4-
-
-
-
3Gain-
GALC-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALM-
-
-
-
3Gain-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT12-
-
-
-
3Gain-
GALNT13-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT3-
-
-
-
3Gain-
GALNT5-
-
-
-
3Gain-
GALNT6-
-
-
-
1Loss-
GALNT7-
-
-
-
0Del-
GALNT9p.R261W
Missense
SNP
1.000
0Del-
GALNTL5-
-
-
-
3Gain-
GALNTL6-
-
-
-
0Del-
GALP-
-
-
-
3Gain-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GALT-
-
-
-
3Gain-
GANC-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAPVD1-
-
-
-
3Gain-
GAREM1-
-
-
-
1Loss-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GART-
-
-
-
1Loss-
GAS1-
-
-
-
3Gain-
GAS2L1-
-
-
-
1Loss-
GAS2L2-
-
-
-
3Gain-
GAS2L3-
-
-
-
1Loss-
GAS6-
-
-
-
5Amp-
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATA3-
-
-
-
3Gain-
GATA4-
-
-
-
3Gain-
GATA5-
-
-
-
5Amp-
GATA6-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATC-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GBX1-
-
-
-
3Gain-
GBX2-
-
-
-
3Gain-
GCA-
-
-
-
3Gain-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCC2-
-
-
-
3Gain-
GCFC2-
-
-
-
3Gain-
GCG-
-
-
-
3Gain-
GCHFR-
-
-
-
1Loss-
GCK-
-
-
-
3Gain-
GCLM-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCNT1-
-
-
-
3Gain-
GCNT3-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
5Amp-
GCOM1-
-
-
-
1Loss-
GDA-
-
-
-
3Gain-
GDAP1L1-
-
-
-
5Amp-
GDAP2-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF5-
-
-
-
5Amp-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
3Gain-
GDNF-
-
-
-
3Gain-
GDPGP1-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN6-
-
-
-
3Gain-
GEMIN7-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFER-
-
-
-
3Gain-
GFI1-
-
-
-
1Loss-
GFM1-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFPT1-
-
-
-
3Gain-
GFPT2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFRA2-
-
-
-
3Gain-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFY-
-
-
-
3Gain-
GGA1-
-
-
-
1Loss-
GGACT-
-
-
-
5Amp-
GGCT-
-
-
-
3Gain-
GGCX-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGNBP2-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
5Amp-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
3Gain-
GHRH-
-
-
-
5Amp-
GHRHR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
5Amp-
GIGYF1-
-
-
-
3Gain-
GIGYF2-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GIPC2-
-
-
-
1Loss-
GIPR-
-
-
-
3Gain-
GIT1-
-
-
-
3Gain-
GIT2-
-
-
-
1Loss-
GJA3-
-
-
-
5Amp-
GJA4-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB2-
-
-
-
5Amp-
GJB3-
-
-
-
1Loss-
GJB4-
-
-
-
1Loss-
GJB5-
-
-
-
1Loss-
GJB6-
-
-
-
5Amp-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GK3P-
-
-
-
0Del-
GK5-
-
-
-
1Loss-
GKAP1-
-
-
-
3Gain-
GKN1-
-
-
-
3Gain-
GKN2-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
1Loss-
GLE1-
-
-
-
3Gain-
GLI1-
-
-
-
1Loss-
GLI2-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLIPR2-
-
-
-
3Gain-
GLIS2-
-
-
-
3Gain-
GLIS3-
-
-
-
3Gain-
GLMN-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA2p.Q211H
Missense
SNP
0.459
NDND-
GLRA3-
-
-
-
0Del-
GLRB-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLS-
-
-
-
3Gain-
GLS2-
-
-
-
1Loss-
GLT1D1-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GLYR1-
-
-
-
3Gain-
GM2A-
-
-
-
1Loss-
GMCL1-
-
-
-
3Gain-
GMCL2-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMEB2-
-
-
-
5Amp-
GMNC-
-
-
-
1Loss-
GMPPA-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GMPS-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
5Amp-
GNAT1-
-
-
-
1Loss-
GNAT2-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB2-
-
-
-
3Gain-
GNB3-
-
-
-
1Loss-
GNB5-
-
-
-
1Loss-
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG13-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
1Loss-
GNG8-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNLY-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNPTAB-
-
-
-
1Loss-
GNPTG-
-
-
-
3Gain-
GNRH1-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNS-
-
-
-
1Loss-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA3-
-
-
-
0Del-
GOLGA5p.K675N
Missense
SNP
0.511
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L10-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L22-
-
-
-
0Del-
GOLGA6L4-
-
-
-
1Loss-
GOLGA6L6-
-
-
-
0Del-
GOLGA6L7-
-
-
-
1Loss-
GOLGA6L9-
-
-
-
1Loss-
GOLGA7-
-
-
-
3Gain-
GOLGA7B-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8K-
-
-
-
1Loss-
GOLGA8M-
-
-
-
1Loss-
GOLGA8N-
-
-
-
1Loss-
GOLGA8O-
-
-
-
1Loss-
GOLGA8Q-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLGA8T-
-
-
-
1Loss-
GOLGB1p.K734N
Missense
SNP
0.351
2--
GOLIM4-
-
-
-
1Loss-
GOLM1-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1B-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GORASP2-
-
-
-
3Gain-
GOSR1-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GOT1L1-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GP6-
-
-
-
3Gain-
GP9-
-
-
-
1Loss-
GPALPP1-
-
-
-
5Amp-
GPAM-
-
-
-
1Loss-
GPAT2-
-
-
-
3Gain-
GPAT4-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH3-
-
-
-
1Loss-
GPBAR1-
-
-
-
3Gain-
GPBP1-
-
-
-
1Loss-
GPC1-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPC5-
-
-
-
5Amp-
GPC6-
-
-
-
5Amp-
GPCPD1-
-
-
-
3Gain-
GPD1-
-
-
-
1Loss-
GPD2-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPM6A-
-
-
-
0Del-
GPN2-
-
-
-
1Loss-
GPN3-
-
-
-
1Loss-
GPNMB-
-
-
-
3Gain-
GPR1-
-
-
-
3Gain-
GPR107-
-
-
-
3Gain-
GPR12-
-
-
-
5Amp-
GPR132-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR149-
-
-
-
1Loss-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR155-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR157-
-
-
-
1Loss-
GPR158-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR17-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR18-
-
-
-
5Amp-
GPR180-
-
-
-
5Amp-
GPR182-
-
-
-
1Loss-
GPR183-
-
-
-
5Amp-
GPR19-
-
-
-
1Loss-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR32-
-
-
-
3Gain-
GPR35-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR39-
-
-
-
3Gain-
GPR4-
-
-
-
3Gain-
GPR45-
-
-
-
3Gain-
GPR55-
-
-
-
3Gain-
GPR61-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR75-
-
-
-
3Gain-
GPR75-ASB3-
-
-
-
3Gain-
GPR84-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR88-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRASP1p.E806A
Missense
SNP
0.277
NDND-
GPRC5A-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRB14-
-
-
-
3Gain-
GREB1L-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHL3-
-
-
-
1Loss-
GRHPR-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRIA2-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN2D-
-
-
-
3Gain-
GRIN3A-
-
-
-
3Gain-
GRIP1-
-
-
-
1Loss-
GRIP2-
-
-
-
3Gain-
GRK1-
-
-
-
5Amp-
GRK3-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM6p.T732M
Missense
SNP
0.448
1Loss-
GRM8-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
5Amp-
GRWD1-
-
-
-
3Gain-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSC-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDME-
-
-
-
3Gain-
GSG1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSKIP-
-
-
-
1Loss-
GSN-
-
-
-
3Gain-
GSR-
-
-
-
3Gain-
GSS-
-
-
-
5Amp-
GSTK1-
-
-
-
3Gain-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSX1-
-
-
-
5Amp-
GSX2-
-
-
-
1Loss-
GTDC1-
-
-
-
3Gain-
GTF2A1-
-
-
-
1Loss-
GTF2A1L-
-
-
-
3Gain-
GTF2A2-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2E1-
-
-
-
3Gain-
GTF2E2-
-
-
-
3Gain-
GTF2F2-
-
-
-
5Amp-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3A-
-
-
-
5Amp-
GTF3C3-
-
-
-
3Gain-
GTPBP1-
-
-
-
1Loss-
GTPBP10-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GTPBP8-
-
-
-
3Gain-
GTSE1-
-
-
-
1Loss-
GTSF1-
-
-
-
1Loss-
GTSF1L-
-
-
-
5Amp-
GUCD1-
-
-
-
1Loss-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GULP1p.K158E
Missense
SNP
0.222
3Gain-
GUSB-
-
-
-
3Gain-
GXYLT1-
-
-
-
1Loss-
GYG1-
-
-
-
1Loss-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPC-
-
-
-
3Gain-
GYPE-
-
-
-
1Loss-
GYS1-
-
-
-
3Gain-
GYS2-
-
-
-
1Loss-
GZF1-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H3F3C-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HAAO-
-
-
-
3Gain-
HABP2-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HACD3-
-
-
-
1Loss-
HACD4-
-
-
-
3Gain-
HAGH-
-
-
-
3Gain-
HAGHL-
-
-
-
3Gain-
HAL-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAND2-
-
-
-
0Del-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN3-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS1-
-
-
-
3Gain-
HASPIN-
-
-
-
1Loss-
HAT1-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBA1-
-
-
-
3Gain-
HBA2-
-
-
-
3Gain-
HBEGF-
-
-
-
1Loss-
HBM-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HBQ1-
-
-
-
3Gain-
HBZ-
-
-
-
3Gain-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCFC1R1-
-
-
-
3Gain-
HCFC2-
-
-
-
1Loss-
HCK-
-
-
-
5Amp-
HCN1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HCRTR1-
-
-
-
1Loss-
HDAC1-
-
-
-
1Loss-
HDAC11-
-
-
-
3Gain-
HDAC3-
-
-
-
1Loss-
HDAC4-
-
-
-
3Gain-
HDAC7-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD3-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HDLBP-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR9-
-
-
-
3Gain-
HEBP1-
-
-
-
1Loss-
HECAp.R104W
Missense
SNP
0.415
2--
HECTD2-
-
-
-
1Loss-
HECTD4-
-
-
-
1Loss-
HECW1-
-
-
-
3Gain-
HECW2-
-
-
-
3Gain-
HELB-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELT-
-
-
-
0Del-
HELZ2-
-
-
-
5Amp-
HEMGN-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HENMT1-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HEPHp.A1073E
Missense
SNP
0.561
NDND-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES6-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGD-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGSNAT-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
3Gain-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA3-
-
-
-
1Loss-
HIBADH-
-
-
-
3Gain-
HIBCH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIF3A-
-
-
-
3Gain-
HIGD1C-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
1Loss-
HIPK1-
-
-
-
1Loss-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
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-
HJURP-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HK2-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HLTF-
-
-
-
1Loss-
HLX-
-
-
-
3Gain-
HM13-
-
-
-
5Amp-
HMBOX1-
-
-
-
3Gain-
HMCES-
-
-
-
1Loss-
HMCN1p.C4773F
Missense
SNP
0.315
2--
HMCN2-
-
-
-
3Gain-
HMG20A-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGB1-
-
-
-
5Amp-
HMGB2-
-
-
-
0Del-
HMGB4-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGCS2-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMOX2-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1A-
-
-
-
1Loss-
HNF1B-
-
-
-
3Gain-
HNF4A-
-
-
-
5Amp-
HNMT-
-
-
-
3Gain-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPA3-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPLL-
-
-
-
3Gain-
HNRNPR-
-
-
-
1Loss-
HNRNPU-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK2p.S124R
Missense
SNP
0.347
2--
HOOK3-
-
-
-
3Gain-
HOPX-
-
-
-
1Loss-
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-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HOXD1-
-
-
-
3Gain-
HOXD10-
-
-
-
3Gain-
HOXD11-
-
-
-
3Gain-
HOXD12-
-
-
-
3Gain-
HOXD13-
-
-
-
3Gain-
HOXD3-
-
-
-
3Gain-
HOXD4-
-
-
-
3Gain-
HOXD8-
-
-
-
3Gain-
HOXD9-
-
-
-
3Gain-
HP1BP3-
-
-
-
1Loss-
HPCA-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPF1-
-
-
-
0Del-
HPGD-
-
-
-
0Del-
HPS1p.F486V
Missense
SNP
0.451
1Loss-
HPS3-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HR-
-
-
-
3Gain-
HRC-
-
-
-
3Gain-
HRCT1-
-
-
-
3Gain-
HRH1-
-
-
-
3Gain-
HRH2-
-
-
-
1Loss-
HRH3-
-
-
-
5Amp-
HRH4-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
1Loss-
HS3ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST6-
-
-
-
3Gain-
HS6ST3-
-
-
-
5Amp-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B14-
-
-
-
3Gain-
HSD17B3-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSDL2-
-
-
-
3Gain-
HSF4p.R140H
Missense
SNP
0.335
2--
HSP90AA1-
-
-
-
1Loss-
HSP90B1-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA13p.Y266*
Nonsense
SNP
0.379
1Loss-
HSPA14-
-
-
-
3Gain-
HSPA4-
-
-
-
1Loss-
HSPA5-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB3-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPB8-
-
-
-
1Loss-
HSPBP1-
-
-
-
3Gain-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HSPG2-
-
-
-
0Del-
HSPH1-
-
-
-
5Amp-
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
0Del-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
5Amp-
HTR2B-
-
-
-
3Gain-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTR6-
-
-
-
1Loss-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA2-
-
-
-
3Gain-
HTRA4-
-
-
-
3Gain-
HUNK-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HVCN1-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
3Gain-
HYDINp.K2100T
Missense
SNP
0.337
2--
HYKK-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IAPP-
-
-
-
1Loss-
IARS-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICA1L-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
ICE2-
-
-
-
1Loss-
ICMT-
-
-
-
1Loss-
ICOS-
-
-
-
3Gain-
ID1-
-
-
-
5Amp-
ID3-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
3Gain-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IER5p.G27C
Missense
SNP
0.298
2--
IER5L-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFIH1-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNG-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
3Gain-
IFNLR1-
-
-
-
0Del-
IFNW1-
-
-
-
3Gain-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
1Loss-
IFT140-
-
-
-
3Gain-
IFT20-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT27-
-
-
-
1Loss-
IFT52-
-
-
-
5Amp-
IFT74-
-
-
-
3Gain-
IFT80-
-
-
-
1Loss-
IFT81-
-
-
-
1Loss-
IFT88-
-
-
-
5Amp-
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1-
-
-
-
1Loss-
IGF1R-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGFALS-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP2-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP5-
-
-
-
3Gain-
IGFBP6-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFBPL1-
-
-
-
3Gain-
IGFL1-
-
-
-
3Gain-
IGFL2-
-
-
-
3Gain-
IGFL3-
-
-
-
3Gain-
IGFL4-
-
-
-
3Gain-
IGHD-
-
-
-
1Loss-
IGHMBP2p.E635D
Missense
SNP
0.290
2--
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGKV2-40-
-
-
-
3Gain-
IGKV2D-28-
-
-
-
3Gain-
IGKV2D-29-
-
-
-
3Gain-
IGKV2D-40-
-
-
-
3Gain-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLON5-
-
-
-
3Gain-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF23-
-
-
-
3Gain-
IGSF3-
-
-
-
1Loss-
IHH-
-
-
-
3Gain-
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
1Loss-
IKBKB-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF2-
-
-
-
3Gain-
IKZF4-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL10RB-
-
-
-
1Loss-
IL11-
-
-
-
3Gain-
IL11RA-
-
-
-
3Gain-
IL12A-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
3Gain-
IL16-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL1A-
-
-
-
3Gain-
IL1B-
-
-
-
3Gain-
IL1F10-
-
-
-
3Gain-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RAP-
-
-
-
1Loss-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL1RN-
-
-
-
3Gain-
IL20RB-
-
-
-
1Loss-
IL22-
-
-
-
1Loss-
IL22RA1-
-
-
-
0Del-
IL23A-
-
-
-
1Loss-
IL26-
-
-
-
1Loss-
IL2RA-
-
-
-
3Gain-
IL2RB-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL32-
-
-
-
3Gain-
IL33-
-
-
-
3Gain-
IL36A-
-
-
-
3Gain-
IL36B-
-
-
-
3Gain-
IL36G-
-
-
-
3Gain-
IL36RN-
-
-
-
3Gain-
IL37-
-
-
-
3Gain-
IL4-
-
-
-
1Loss-
IL4I1-
-
-
-
3Gain-
IL5-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILF2-
-
-
-
3Gain-
ILKAP-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMMT-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
1Loss-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INAFM1-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING1-
-
-
-
4Gain-
ING2-
-
-
-
0Del-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
1Loss-
ING5-
-
-
-
3Gain-
INHA-
-
-
-
3Gain-
INHBAp.S13C
Missense
SNP
0.240
3Gain-
INHBB-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INIP-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INKA2-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80-
-
-
-
1Loss-
INO80B-
-
-
-
3Gain-
INO80B-WBP1-
-
-
-
3Gain-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
3Gain-
INPP1-
-
-
-
3Gain-
INPP4A-
-
-
-
3Gain-
INPP4B-
-
-
-
1Loss-
INPP5A-
-
-
-
1Loss-
INPP5D-
-
-
-
3Gain-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSIG2-
-
-
-
3Gain-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSM1-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
3Gain-
INTS13-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
5Amp-
INTS7-
-
-
-
3Gain-
INTS9-
-
-
-
3Gain-
INVS-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO5-
-
-
-
5Amp-
IPO8-
-
-
-
1Loss-
IPPK-
-
-
-
3Gain-
IQCA1-
-
-
-
3Gain-
IQCC-
-
-
-
1Loss-
IQCD-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCH-
-
-
-
1Loss-
IQCJ-
-
-
-
1Loss-
IQCJ-SCHIP1-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
0Del-
IRF2BP1-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF3-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRGC-
-
-
-
3Gain-
IRGM-
-
-
-
1Loss-
IRGQ-
-
-
-
3Gain-
IRS1-
-
-
-
3Gain-
IRS2-
-
-
-
4Gain-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISCA1-
-
-
-
3Gain-
ISCU-
-
-
-
1Loss-
ISG20-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISOC2-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
ISX-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ITCH-
-
-
-
5Amp-
ITGA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA4-
-
-
-
3Gain-
ITGA5-
-
-
-
1Loss-
ITGA6-
-
-
-
3Gain-
ITGA7-
-
-
-
1Loss-
ITGA8-
-
-
-
3Gain-
ITGAE-
-
-
-
1Loss-
ITGAV-
-
-
-
3Gain-
ITGB6-
-
-
-
3Gain-
ITGB7-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
5Amp-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
3Gain-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
3Gain-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
5Amp-
ITM2C-
-
-
-
3Gain-
ITPA-
-
-
-
3Gain-
ITPK1-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPR2-
-
-
-
1Loss-
ITPRID1-
-
-
-
3Gain-
ITPRID2-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
3Gain-
ITSN1-
-
-
-
1Loss-
IVD-
-
-
-
1Loss-
IWS1-
-
-
-
3Gain-
IZUMO1-
-
-
-
3Gain-
IZUMO2-
-
-
-
3Gain-
IZUMO3-
-
-
-
3Gain-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAG2-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAK3p.R40C
Missense
SNP
0.661
2--
JAKMIP2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMJD8-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JOSD2-
-
-
-
3Gain-
JPH2-
-
-
-
5Amp-
JPT2-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANSL1L-
-
-
-
3Gain-
KANSL2-
-
-
-
1Loss-
KANSL3-
-
-
-
3Gain-
KAT14-
-
-
-
3Gain-
KAT6A-
-
-
-
3Gain-
KAT6B-
-
-
-
1Loss-
KATNAL1-
-
-
-
5Amp-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD12-
-
-
-
1Loss-
KBTBD13-
-
-
-
1Loss-
KBTBD2-
-
-
-
3Gain-
KBTBD6-
-
-
-
5Amp-
KBTBD7-
-
-
-
5Amp-
KCMF1-
-
-
-
3Gain-
KCNA1-
-
-
-
1Loss-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA4p.G239S
Missense
SNP
0.250
2--
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNA7-
-
-
-
3Gain-
KCNAB1-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
5Amp-
KCNC2-
-
-
-
1Loss-
KCNC3-
-
-
-
3Gain-
KCNC4-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCND3-
-
-
-
1Loss-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNE4-
-
-
-
3Gain-
KCNG1-
-
-
-
5Amp-
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
3Gain-
KCNH1-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH3-
-
-
-
1Loss-
KCNH7-
-
-
-
3Gain-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP3-
-
-
-
3Gain-
KCNIP4-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
3Gain-
KCNJ14-
-
-
-
3Gain-
KCNJ18-
-
-
-
1Loss-
KCNJ3-
-
-
-
3Gain-
KCNJ4-
-
-
-
1Loss-
KCNJ8-
-
-
-
1Loss-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK12-
-
-
-
3Gain-
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
5Amp-
KCNK18-
-
-
-
1Loss-
KCNK2-
-
-
-
3Gain-
KCNK9-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB4-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNN4-
-
-
-
3Gain-
KCNQ2-
-
-
-
5Amp-
KCNRG-
-
-
-
5Amp-
KCNS1-
-
-
-
5Amp-
KCNU1-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD1-
-
-
-
1Loss-
KCTD10-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
5Amp-
KCTD14p.P24L
Missense
SNP
0.327
2--
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD18-
-
-
-
3Gain-
KCTD21p.T22S
Missense
SNP
0.262
2--
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
5Amp-
KCTD5-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KCTD8-
-
-
-
1Loss-
KCTD9-
-
-
-
3Gain-
KDELC1-
-
-
-
4Gain-
KDELR1-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
0Del-
KDM2B-
-
-
-
1Loss-
KDM3A-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM4C-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KERA-
-
-
-
1Loss-
KHDRBS1-
-
-
-
1Loss-
KIAA0100-
-
-
-
3Gain-
KIAA0319L-
-
-
-
1Loss-
KIAA0556p.N190T
Missense
SNP
0.311
2--
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0930-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
3Gain-
KIAA1257-
-
-
-
1Loss-
KIAA1324-
-
-
-
1Loss-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
1Loss-
KIAA1522-
-
-
-
1Loss-
KIAA1549-
-
-
-
3Gain-
KIAA1551-
-
-
-
1Loss-
KIAA1671-
-
-
-
1Loss-
KIAA1755-
-
-
-
5Amp-
KIAA1841-
-
-
-
3Gain-
KIAA1958-
-
-
-
3Gain-
KIAA2012-
-
-
-
3Gain-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF11-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF13B-
-
-
-
3Gain-
KIF16Bp.K952N
Missense
SNP
0.279
3Gain-
KIF17-
-
-
-
1Loss-
KIF1A-
-
-
-
3Gain-
KIF1B-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
1Loss-
KIF23-
-
-
-
1Loss-
KIF24-
-
-
-
3Gain-
KIF26A-
-
-
-
1Loss-
KIF26B-
-
-
-
1Loss-
KIF27-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF2Bp.T320M
Missense
SNP
0.678
2--
KIF3A-
-
-
-
1Loss-
KIF3B-
-
-
-
5Amp-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF5C-
-
-
-
3Gain-
KIF7-
-
-
-
1Loss-
KIN-
-
-
-
3Gain-
KIR2DL1-
-
-
-
3Gain-
KIR2DL3-
-
-
-
3Gain-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1-
-
-
-
3Gain-
KIR3DL2-
-
-
-
3Gain-
KIR3DL3-
-
-
-
3Gain-
KIT-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KIZp.G622E
Missense
SNP
0.225
3Gain-
KL-
-
-
-
5Amp-
KLB-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLC3-
-
-
-
3Gain-
KLF12-
-
-
-
5Amp-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF4-
-
-
-
3Gain-
KLF5-
-
-
-
5Amp-
KLF6-
-
-
-
3Gain-
KLF7-
-
-
-
3Gain-
KLF9-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
5Amp-
KLHL14-
-
-
-
1Loss-
KLHL2-
-
-
-
0Del-
KLHL21-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL23-
-
-
-
3Gain-
KLHL25-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL30-
-
-
-
3Gain-
KLHL40-
-
-
-
3Gain-
KLHL41-
-
-
-
3Gain-
KLHL42-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
3Gain-
KLK1-
-
-
-
3Gain-
KLK10-
-
-
-
3Gain-
KLK11-
-
-
-
3Gain-
KLK12-
-
-
-
3Gain-
KLK13-
-
-
-
3Gain-
KLK14-
-
-
-
3Gain-
KLK15-
-
-
-
3Gain-
KLK2-
-
-
-
3Gain-
KLK3-
-
-
-
3Gain-
KLK4-
-
-
-
3Gain-
KLK5-
-
-
-
3Gain-
KLK6-
-
-
-
3Gain-
KLK7-
-
-
-
3Gain-
KLK8-
-
-
-
3Gain-
KLK9-
-
-
-
3Gain-
KLKB1-
-
-
-
0Del-
KLLN-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KLRK1-
-
-
-
1Loss-
KMT2C-
-
-
-
3Gain-
KMT2D-
-
-
-
1Loss-
KMT2E-
-
-
-
3Gain-
KMT5A-
-
-
-
1Loss-
KMT5C-
-
-
-
3Gain-
KNDC1-
-
-
-
1Loss-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPNA3-
-
-
-
5Amp-
KPNA4-
-
-
-
1Loss-
KPNA6-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KPTN-
-
-
-
3Gain-
KRAS-
-
-
-
1Loss-
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
3Gain-
KRCC1-
-
-
-
3Gain-
KREMEN1-
-
-
-
1Loss-
KREMEN2-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
KRT4-
-
-
-
1Loss-
KRT5-
-
-
-
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71-
-
-
-
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74-
-
-
-
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84-
-
-
-
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRTAP1-1-
-
-
-
1Loss-
KRTAP1-3-
-
-
-
1Loss-
KRTAP1-5-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP20-4-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP3-1-
-
-
-
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-
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-
-
-
-
3Gain-
KSR2-
-
-
-
1Loss-
KY-
-
-
-
1Loss-
KYAT1-
-
-
-
3Gain-
KYAT3-
-
-
-
1Loss-
KYNU-
-
-
-
3Gain-
L34079.1-
-
-
-
3Gain-
L3MBTL1-
-
-
-
5Amp-
L3MBTL2-
-
-
-
1Loss-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
5Amp-
LACRT-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LACTBL1-
-
-
-
0Del-
LAG3-
-
-
-
1Loss-
LAIR1-
-
-
-
3Gain-
LAIR2-
-
-
-
3Gain-
LALBA-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA2p.R1802C
Missense
SNP
0.991
2--
LAMA3-
-
-
-
1Loss-
LAMA5p.G2880R
Missense
SNP
0.140
5Amp-
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMB3p.R1042W
Missense
SNP
0.748
3Gain-
LAMB4-
-
-
-
3Gain-
LAMP1-
-
-
-
5Amp-
LAMP5-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LAMTOR5-
-
-
-
1Loss-
LANCL1-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAP3-
-
-
-
1Loss-
LARGE1p.A290D
Missense
SNP
0.537
1Loss-
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARP4B-
-
-
-
3Gain-
LARP6-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LATS2-
-
-
-
5Amp-
LBP-
-
-
-
5Amp-
LBR-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LBX2-
-
-
-
3Gain-
LCK-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCN2-
-
-
-
3Gain-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
5Amp-
LCP2-
-
-
-
1Loss-
LCTp.S259R
Missense
SNP
0.232
3Gain-
LCTL-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDHB-
-
-
-
1Loss-
LDLRAD2-
-
-
-
0Del-
LDLRAD4-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEKR1-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LENEP-
-
-
-
3Gain-
LENG1-
-
-
-
3Gain-
LENG8-
-
-
-
3Gain-
LENG9-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
3Gain-
LETM2-
-
-
-
3Gain-
LETMD1-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGALSL-
-
-
-
3Gain-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
3Gain-
LGMN-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LHB-
-
-
-
3Gain-
LHCGR-
-
-
-
3Gain-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHFPL6-
-
-
-
5Amp-
LHPP-
-
-
-
1Loss-
LHX1-
-
-
-
3Gain-
LHX2-
-
-
-
3Gain-
LHX5-
-
-
-
1Loss-
LHX6-
-
-
-
3Gain-
LHX8-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIFR-
-
-
-
3Gain-
LIG1-
-
-
-
3Gain-
LIG3-
-
-
-
3Gain-
LIG4-
-
-
-
4Gain-
LILRA1-
-
-
-
3Gain-
LILRA2-
-
-
-
3Gain-
LILRA4-
-
-
-
3Gain-
LILRA5-
-
-
-
3Gain-
LILRA6-
-
-
-
3Gain-
LILRB1-
-
-
-
3Gain-
LILRB2-
-
-
-
3Gain-
LILRB3-
-
-
-
3Gain-
LILRB4-
-
-
-
3Gain-
LILRB5-
-
-
-
3Gain-
LIM2-
-
-
-
3Gain-
LIMA1-
-
-
-
1Loss-
LIMCH1-
-
-
-
1Loss-
LIME1-
-
-
-
5Amp-
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIMS1-
-
-
-
3Gain-
LIMS2-
-
-
-
3Gain-
LIMS3-
-
-
-
3Gain-
LIMS3-LOC440895-
-
-
-
3Gain-
LIMS4-
-
-
-
3Gain-
LIN28A-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LIN7B-
-
-
-
3Gain-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
0Del-
LINGO1-
-
-
-
1Loss-
LINGO2-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
3Gain-
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
5Amp-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLPH-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMAN2L-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMF1-
-
-
-
3Gain-
LMF2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMO7-
-
-
-
5Amp-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMTK3-
-
-
-
3Gain-
LMX1Ap.D164N
Missense
SNP
0.704
2--
LMX1B-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LNPK-
-
-
-
3Gain-
LNX1-
-
-
-
1Loss-
LNX2-
-
-
-
5Amp-
LONRF1-
-
-
-
3Gain-
LONRF2-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL2-
-
-
-
3Gain-
LOXL3-
-
-
-
3Gain-
LOXL4-
-
-
-
1Loss-
LPAR1-
-
-
-
3Gain-
LPAR3-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPAR6-
-
-
-
5Amp-
LPCAT1-
-
-
-
3Gain-
LPCAT3-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPIN2-
-
-
-
1Loss-
LPIN3-
-
-
-
5Amp-
LPL-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
5Amp-
LRCH4-
-
-
-
3Gain-
LRCOL1-
-
-
-
0Del-
LRGUK-
-
-
-
3Gain-
LRIF1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIG3-
-
-
-
1Loss-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1B-
-
-
-
3Gain-
LRP2-
-
-
-
3Gain-
LRP2BP-
-
-
-
0Del-
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRPPRC-
-
-
-
3Gain-
LRRC10-
-
-
-
1Loss-
LRRC14B-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC19-
-
-
-
3Gain-
LRRC20-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC37B-
-
-
-
3Gain-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC40-
-
-
-
1Loss-
LRRC43-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC4B-
-
-
-
3Gain-
LRRC53-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
5Amp-
LRRC66-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC72-
-
-
-
3Gain-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8A-
-
-
-
3Gain-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRD1-
-
-
-
3Gain-
LRRFIP1-
-
-
-
3Gain-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
1Loss-
LRRK1p.E189G
Missense
SNP
0.540
1Loss-
LRRK2-
-
-
-
1Loss-
LRRN3-
-
-
-
3Gain-
LRRN4-
-
-
-
3Gain-
LRRTM1-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRRTM4-
-
-
-
3Gain-
LRSAM1-
-
-
-
3Gain-
LRTM1-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM14B-
-
-
-
5Amp-
LSM3-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LTA4H-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LUC7L-
-
-
-
3Gain-
LUC7L2-
-
-
-
3Gain-
LUM-
-
-
-
1Loss-
LURAP1L-
-
-
-
3Gain-
LUZP1-
-
-
-
0Del-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
1Loss-
LY75-
-
-
-
3Gain-
LY75-CD302-
-
-
-
3Gain-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYPD1-
-
-
-
3Gain-
LYPD3-
-
-
-
3Gain-
LYPD5-
-
-
-
3Gain-
LYPD6-
-
-
-
3Gain-
LYPD6B-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYPLA2-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYRM7-
-
-
-
1Loss-
LYRM9-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LYZ-
-
-
-
1Loss-
LYZL4-
-
-
-
3Gain-
LYZL6-
-
-
-
3Gain-
LZIC-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
LZTS3-
-
-
-
3Gain-
M1AP-
-
-
-
3Gain-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
5Amp-
MAB21L2-
-
-
-
1Loss-
MAB21L3-
-
-
-
1Loss-
MAB21L4-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MACO1-
-
-
-
1Loss-
MACROD2-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAD2L2-
-
-
-
1Loss-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAFK-
-
-
-
3Gain-
MAGEB6p.A203V
Missense
SNP
0.538
NDND-
MAGEL2-
-
-
-
1Loss-
MAGI2-
-
-
-
3Gain-
MAGI3-
-
-
-
1Loss-
MAGOHB-
-
-
-
1Loss-
MAIP1-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MAL-
-
-
-
3Gain-
MALL-
-
-
-
3Gain-
MALRD1-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
3Gain-
MAML1-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAMSTR-
-
-
-
3Gain-
MAN1A2-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANBAL-
-
-
-
5Amp-
MANF-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
5Amp-
MAP1LC3B2-
-
-
-
1Loss-
MAP2-
-
-
-
3Gain-
MAP2K1-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K19-
-
-
-
3Gain-
MAP3K2-
-
-
-
3Gain-
MAP3K20-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K6-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K3-
-
-
-
3Gain-
MAP4K4-
-
-
-
3Gain-
MAP7D1-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
3Gain-
MAPK9-
-
-
-
1Loss-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE1-
-
-
-
5Amp-
MAPRE2-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH1-
-
-
-
0Del-
MARCH11-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH4-
-
-
-
3Gain-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCH7-
-
-
-
3Gain-
MARCH9-
-
-
-
1Loss-
MARCKSL1-
-
-
-
1Loss-
MARCO-
-
-
-
3Gain-
MARK1-
-
-
-
3Gain-
MARK3-
-
-
-
1Loss-
MARK4-
-
-
-
3Gain-
MARS-
-
-
-
1Loss-
MARS2-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
3Gain-
MAT2B-
-
-
-
1Loss-
MATN4-
-
-
-
5Amp-
MATR3-
-
-
-
1Loss-
MAVS-
-
-
-
3Gain-
MB-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBD5-
-
-
-
3Gain-
MBD6-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
1Loss-
MBNL2-
-
-
-
5Amp-
MBOAT4-
-
-
-
3Gain-
MBOAT7-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MC2R-
-
-
-
1Loss-
MC3R-
-
-
-
5Amp-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCEE-
-
-
-
3Gain-
MCF2L-
-
-
-
5Amp-
MCFD2-
-
-
-
3Gain-
MCHR1-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MCM2-
-
-
-
1Loss-
MCM4-
-
-
-
3Gain-
MCM5-
-
-
-
1Loss-
MCM6-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCM8-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCMDC2p.X358_splice
Splice_Site
SNP
0.270
2--
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCRIP2-
-
-
-
3Gain-
MCRS1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCU-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDH1-
-
-
-
3Gain-
MDH1B-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MECR-
-
-
-
0Del-
MED10-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED13L-
-
-
-
1Loss-
MED15-
-
-
-
1Loss-
MED18-
-
-
-
0Del-
MED21-
-
-
-
1Loss-
MED25-
-
-
-
3Gain-
MED28-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
5Amp-
MED7-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
5Amp-
MEF2A-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEFV-
-
-
-
3Gain-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEI1-
-
-
-
1Loss-
MEIG1-
-
-
-
3Gain-
MEIOBp.K24N
Missense
SNP
0.292
3Gain-
MEIS1-
-
-
-
3Gain-
MEIS2-
-
-
-
1Loss-
MEIS3-
-
-
-
3Gain-
MELK-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
1Loss-
MEPCE-
-
-
-
3Gain-
MERTK-
-
-
-
3Gain-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1D-
-
-
-
3Gain-
METAP2-
-
-
-
1Loss-
METRN-
-
-
-
3Gain-
METTL1-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL21A-
-
-
-
3Gain-
METTL21C-
-
-
-
5Amp-
METTL25-
-
-
-
1Loss-
METTL26-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL4-
-
-
-
1Loss-
METTL5-
-
-
-
3Gain-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
METTL8-
-
-
-
3Gain-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP3L-
-
-
-
0Del-
MFAP4-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
3Gain-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD1-
-
-
-
1Loss-
MFSD13Ap.A8T
Missense
SNP
0.435
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD5-
-
-
-
1Loss-
MFSD6-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MFSD9-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGARP-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4A-
-
-
-
3Gain-
MGAT4B-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGAT4D-
-
-
-
1Loss-
MGAT5-
-
-
-
3Gain-
MGLL-
-
-
-
1Loss-
MGME1-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGRN1-
-
-
-
3Gain-
MGST1-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MIA3-
-
-
-
3Gain-
MIB1-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICU1-
-
-
-
1Loss-
MICU2-
-
-
-
5Amp-
MICU3-
-
-
-
3Gain-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MIGA2-
-
-
-
3Gain-
MIIP-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
1Loss-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MIP-
-
-
-
1Loss-
MIPEP-
-
-
-
5Amp-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MITD1-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKI67-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MKRN3-
-
-
-
1Loss-
MKX-
-
-
-
3Gain-
MLANA-
-
-
-
3Gain-
MLC1-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF1-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLLT10p.L764V
Missense
SNP
0.253
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLNR-
-
-
-
5Amp-
MLPH-
-
-
-
3Gain-
MLST8-
-
-
-
3Gain-
MLXIP-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MMAA-
-
-
-
1Loss-
MMAB-
-
-
-
1Loss-
MMADHC-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MME-
-
-
-
1Loss-
MMP11-
-
-
-
1Loss-
MMP17-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMP24-
-
-
-
5Amp-
MMP25-
-
-
-
3Gain-
MMP28-
-
-
-
3Gain-
MMP9-
-
-
-
5Amp-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNS1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOAP1-
-
-
-
1Loss-
MOB1A-
-
-
-
3Gain-
MOB3B-
-
-
-
3Gain-
MOB4-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOCS3-
-
-
-
5Amp-
MOGAT1-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOGS-
-
-
-
3Gain-
MOK-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORF4L1p.R59H
Missense
SNP
1.000
1Loss-
MORN2-
-
-
-
3Gain-
MORN3-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MORN5-
-
-
-
3Gain-
MOS-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOV10-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPG-
-
-
-
3Gain-
MPHOSPH10-
-
-
-
3Gain-
MPHOSPH6p.K128T
Missense
SNP
0.286
2--
MPHOSPH8-
-
-
-
5Amp-
MPHOSPH9-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPP4-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
3Gain-
MPPE1-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRAS-
-
-
-
1Loss-
MRC1-
-
-
-
3Gain-
MREG-
-
-
-
3Gain-
MRGBPp.K63T
Missense
SNP
0.181
5Amp-
MRM1-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
3Gain-
MROH2Bp.L798V
Missense
SNP
0.222
3Gain-
MROH8-
-
-
-
5Amp-
MRPL15-
-
-
-
3Gain-
MRPL19-
-
-
-
3Gain-
MRPL22-
-
-
-
1Loss-
MRPL28-
-
-
-
3Gain-
MRPL3-
-
-
-
1Loss-
MRPL30-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL35-
-
-
-
3Gain-
MRPL36-
-
-
-
3Gain-
MRPL39-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
3Gain-
MRPL46-
-
-
-
1Loss-
MRPL50-
-
-
-
3Gain-
MRPL51-
-
-
-
1Loss-
MRPL53-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
5Amp-
MRPL9-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
1Loss-
MRPS24-
-
-
-
3Gain-
MRPS26-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
5Amp-
MRPS33-
-
-
-
3Gain-
MRPS34-
-
-
-
3Gain-
MRPS35-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS5-
-
-
-
3Gain-
MRPS6-
-
-
-
1Loss-
MRPS9-
-
-
-
3Gain-
MRRF-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSH2-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSH6-
-
-
-
3Gain-
MSI1-
-
-
-
1Loss-
MSL2-
-
-
-
1Loss-
MSLN-
-
-
-
3Gain-
MSLNL-
-
-
-
3Gain-
MSMO1-
-
-
-
0Del-
MSMP-
-
-
-
3Gain-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MSRB1-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSRB3-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTN-
-
-
-
3Gain-
MSX2-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MTA1-
-
-
-
1Loss-
MTA3-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTCL1-
-
-
-
1Loss-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
1Loss-
MTERF4-
-
-
-
3Gain-
MTF2-
-
-
-
1Loss-
MTFMT-
-
-
-
1Loss-
MTFP1-
-
-
-
1Loss-
MTFR1L-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
5Amp-
MTHFD2-
-
-
-
3Gain-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTIF2-
-
-
-
3Gain-
MTIF3-
-
-
-
5Amp-
MTMR10-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR3-
-
-
-
1Loss-
MTMR6-
-
-
-
5Amp-
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTNR1A-
-
-
-
0Del-
MTOR-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
5Amp-
MTRR-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
3Gain-
MTUS2-
-
-
-
5Amp-
MTX1-
-
-
-
3Gain-
MTX2-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC16-
-
-
-
1Loss-
MUC17-
-
-
-
3Gain-
MUC19-
-
-
-
1Loss-
MUC3A-
-
-
-
3Gain-
MUC4p.A2969V
Missense
SNP
0.190
2--
MUCL1-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUSKp.E569G
Missense
SNP
0.209
3Gain-
MUSTN1-
-
-
-
1Loss-
MVB12B-
-
-
-
3Gain-
MVK-
-
-
-
1Loss-
MXD1-
-
-
-
3Gain-
MXD3-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MYADM-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL2-
-
-
-
5Amp-
MYBPC1-
-
-
-
1Loss-
MYBPC2-
-
-
-
3Gain-
MYBPHL-
-
-
-
1Loss-
MYCBP2-
-
-
-
5Amp-
MYEF2-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH14-
-
-
-
3Gain-
MYH2p.K1332T
Missense
SNP
0.500
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E538V
Missense
SNP
0.267
2--
MYH7B-
-
-
-
5Amp-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL1-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL2p.A13T
Missense
SNP
1.000
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYL7-
-
-
-
3Gain-
MYL9-
-
-
-
5Amp-
MYLK2-
-
-
-
5Amp-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
4Gain-
MYO18A-
-
-
-
3Gain-
MYO18B-
-
-
-
1Loss-
MYO19-
-
-
-
3Gain-
MYO1A-
-
-
-
1Loss-
MYO1B-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO1E-
-
-
-
1Loss-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
1Loss-
MYO3A-
-
-
-
3Gain-
MYO3B-
-
-
-
3Gain-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO7B-
-
-
-
3Gain-
MYO9A-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM3-
-
-
-
0Del-
MYORG-
-
-
-
3Gain-
MYOT-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYPOP-
-
-
-
3Gain-
MYRFL-
-
-
-
1Loss-
MYT1-
-
-
-
5Amp-
MYZAP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZF1-
-
-
-
3Gain-
MZT1-
-
-
-
5Amp-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
5Amp-
N4BP2L2-
-
-
-
5Amp-
N4BP3-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA16-
-
-
-
5Amp-
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
1Loss-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA60-
-
-
-
3Gain-
NAA80-
-
-
-
1Loss-
NAB1-
-
-
-
3Gain-
NAB2-
-
-
-
1Loss-
NABP1-
-
-
-
3Gain-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NADK2-
-
-
-
3Gain-
NAF1-
-
-
-
0Del-
NAGA-
-
-
-
1Loss-
NAGK-
-
-
-
3Gain-
NAGPA-
-
-
-
3Gain-
NAIF1-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
5Amp-
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANOS2-
-
-
-
3Gain-
NANP-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAPA-
-
-
-
3Gain-
NAPB-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPG-
-
-
-
1Loss-
NAPSA-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
3Gain-
NAT14-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
3Gain-
NAT8-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NAXD-
-
-
-
4Gain-
NBEA-
-
-
-
5Amp-
NBEAL1-
-
-
-
3Gain-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
1Loss-
NBPF3-
-
-
-
0Del-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBPF9-
-
-
-
3Gain-
NCAM2-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCAPH-
-
-
-
3Gain-
NCAPH2-
-
-
-
1Loss-
NCBP1-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCDN-
-
-
-
1Loss-
NCF1-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCK1-
-
-
-
1Loss-
NCK2-
-
-
-
3Gain-
NCKAP1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCKAP5-
-
-
-
3Gain-
NCKAP5L-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
3Gain-
NCMAP-
-
-
-
1Loss-
NCOA3-
-
-
-
5Amp-
NCOA5-
-
-
-
5Amp-
NCOA6-
-
-
-
5Amp-
NCOR1-
-
-
-
1Loss-
NCOR2-
-
-
-
1Loss-
NCR1-
-
-
-
3Gain-
NCS1-
-
-
-
3Gain-
NDC80-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDFIP2-
-
-
-
5Amp-
NDN-
-
-
-
1Loss-
NDRG3-
-
-
-
5Amp-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDUFA10-
-
-
-
3Gain-
NDUFA12-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFA8-
-
-
-
3Gain-
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFB1-
-
-
-
1Loss-
NDUFB10-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB6-
-
-
-
3Gain-
NDUFB8-
-
-
-
1Loss-
NDUFC1-
-
-
-
1Loss-
NDUFS1-
-
-
-
3Gain-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
3Gain-
NDUFV2-
-
-
-
1Loss-
NEBp.R3988G
Missense
SNP
0.232
3Gain-
NEBL-
-
-
-
3Gain-
NECAB3-
-
-
-
5Amp-
NECAP1-
-
-
-
1Loss-
NECAP2-
-
-
-
1Loss-
NECTIN2-
-
-
-
3Gain-
NEDD1-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEGR1-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
3Gain-
NEIL3-
-
-
-
0Del-
NEK1-
-
-
-
0Del-
NEK11-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
5Amp-
NEK4-
-
-
-
1Loss-
NEK5p.G227V
Missense
SNP
0.203
5Amp-
NEK6-
-
-
-
3Gain-
NEK8-
-
-
-
3Gain-
NELFCD-
-
-
-
5Amp-
NELL2-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NEMP2-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEU2-
-
-
-
3Gain-
NEU4-
-
-
-
3Gain-
NEURL1-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEURL2-
-
-
-
5Amp-
NEURL3-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD1-
-
-
-
3Gain-
NEUROD4-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NF1p.X96_splice
Splice_Site
SNP
0.204
3Gain-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
5Amp-
NFE2-
-
-
-
1Loss-
NFE2L2-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
3Gain-
NFIL3-
-
-
-
3Gain-
NFKB2-
-
-
-
1Loss-
NFS1-
-
-
-
5Amp-
NFU1-
-
-
-
3Gain-
NFX1-
-
-
-
3Gain-
NFXL1-
-
-
-
1Loss-
NFYB-
-
-
-
1Loss-
NGEF-
-
-
-
3Gain-
NGF-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHEJ1-
-
-
-
3Gain-
NHLH2-
-
-
-
1Loss-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
5Amp-
NHLRC4-
-
-
-
3Gain-
NHP2-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NIF3L1-
-
-
-
3Gain-
NIFK-
-
-
-
3Gain-
NIM1K-
-
-
-
3Gain-
NINJ1-
-
-
-
3Gain-
NINL-
-
-
-
3Gain-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPBLp.G1144R
Missense
SNP
0.464
3Gain-
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NKAIN1-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
5Amp-
NKD2-
-
-
-
3Gain-
NKG7-
-
-
-
3Gain-
NKPD1-
-
-
-
3Gain-
NKTRp.S1390C
Missense
SNP
0.209
3Gain-
NKX1-2-
-
-
-
1Loss-
NKX2-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
1Loss-
NKX2-4-
-
-
-
3Gain-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
3Gain-
NKX3-1-
-
-
-
3Gain-
NKX3-2-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NKX6-3-
-
-
-
3Gain-
NLE1-
-
-
-
3Gain-
NLGN2-
-
-
-
1Loss-
NLK-
-
-
-
3Gain-
NLN-
-
-
-
1Loss-
NLRC3-
-
-
-
3Gain-
NLRP1-
-
-
-
1Loss-
NLRP11-
-
-
-
3Gain-
NLRP12-
-
-
-
3Gain-
NLRP13-
-
-
-
3Gain-
NLRP2-
-
-
-
3Gain-
NLRP4-
-
-
-
3Gain-
NLRP5-
-
-
-
3Gain-
NLRP7-
-
-
-
3Gain-
NLRP8p.C399Y
Missense
SNP
0.225
3Gain-
NLRP9-
-
-
-
3Gain-
NMB-
-
-
-
1Loss-
NMD3-
-
-
-
1Loss-
NME3-
-
-
-
3Gain-
NME4-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
1Loss-
NMI-
-
-
-
3Gain-
NMNAT1-
-
-
-
1Loss-
NMNAT3-
-
-
-
1Loss-
NMRAL1-
-
-
-
3Gain-
NMRK1p.E46D
Missense
SNP
0.180
3Gain-
NMS-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NMU-
-
-
-
1Loss-
NMUR1-
-
-
-
3Gain-
NMUR2-
-
-
-
1Loss-
NNAT-
-
-
-
5Amp-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOC4L-
-
-
-
0Del-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NODAL-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL4L-
-
-
-
5Amp-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOL9-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOP10-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOP53-
-
-
-
3Gain-
NOP56-
-
-
-
3Gain-
NOP58-
-
-
-
3Gain-
NOS1-
-
-
-
1Loss-
NOS2-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NOSIP-
-
-
-
3Gain-
NOSTRIN-
-
-
-
3Gain-
NOTCH2-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
3Gain-
NOTO-
-
-
-
3Gain-
NOVA2-
-
-
-
3Gain-
NOX3p.L138R
Missense
SNP
0.319
2--
NOX5-
-
-
-
1Loss-
NOXO1-
-
-
-
3Gain-
NPAP1-
-
-
-
1Loss-
NPAS1-
-
-
-
3Gain-
NPAS2-
-
-
-
3Gain-
NPBWR1-
-
-
-
3Gain-
NPBWR2-
-
-
-
5Amp-
NPC1-
-
-
-
1Loss-
NPC1L1-
-
-
-
3Gain-
NPEPL1-
-
-
-
5Amp-
NPFF-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPHP1-
-
-
-
3Gain-
NPHP3-
-
-
-
1Loss-
NPHP3-ACAD11-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
3Gain-
NPM3-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPPC-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPRL3-
-
-
-
3Gain-
NPS-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
1Loss-
NPTX2-
-
-
-
3Gain-
NPTXR-
-
-
-
1Loss-
NPVF-
-
-
-
3Gain-
NPW-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY1R-
-
-
-
0Del-
NPY2R-
-
-
-
1Loss-
NPY5R-
-
-
-
0Del-
NR0B2-
-
-
-
1Loss-
NR1H2-
-
-
-
3Gain-
NR1H4-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C1-
-
-
-
1Loss-
NR2C2-
-
-
-
3Gain-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NR4A2-
-
-
-
3Gain-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR6A1-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRAS-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRCAM-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
3Gain-
NRG2-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRP2-
-
-
-
3Gain-
NRSN2-
-
-
-
3Gain-
NRXN1p.S1390*
Nonsense
SNP
0.222
3Gain-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD3-
-
-
-
3Gain-
NSFL1C-
-
-
-
3Gain-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1-
-
-
-
3Gain-
NSUN2-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C1Bp.K292T
p.S263P
Missense
Missense
SNP
SNP
0.300
0.319
2--
NT5C2-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NT5DC4-
-
-
-
3Gain-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTF4-
-
-
-
3Gain-
NTHL1-
-
-
-
3Gain-
NTM-
-
-
-
1Loss-
NTMT1-
-
-
-
3Gain-
NTN1-
-
-
-
1Loss-
NTN3-
-
-
-
3Gain-
NTN4-
-
-
-
1Loss-
NTN5-
-
-
-
3Gain-
NTNG1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK2-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTS-
-
-
-
1Loss-
NTSR1-
-
-
-
5Amp-
NUAK1-
-
-
-
1Loss-
NUB1-
-
-
-
3Gain-
NUBP2-
-
-
-
3Gain-
NUCB1-
-
-
-
3Gain-
NUDC-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
5Amp-
NUDT16-
-
-
-
1Loss-
NUDT16L1-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
3Gain-
NUDT2-
-
-
-
3Gain-
NUDT4-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUFIP1-
-
-
-
5Amp-
NUFIP2-
-
-
-
3Gain-
NUGGC-
-
-
-
3Gain-
NUP107-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP188-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP35-
-
-
-
3Gain-
NUP37-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NUP58-
-
-
-
5Amp-
NUP62-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2D-
-
-
-
1Loss-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NXN-
-
-
-
1Loss-
NXNL2-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH2-
-
-
-
3Gain-
NXT1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
NYAP2-
-
-
-
3Gain-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OBSL1-
-
-
-
3Gain-
OCA2-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OCSTAMP-
-
-
-
5Amp-
ODF2-
-
-
-
3Gain-
ODF2L-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGFOD2-
-
-
-
1Loss-
OGFR-
-
-
-
5Amp-
OGN-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLA1-
-
-
-
3Gain-
OLAH-
-
-
-
3Gain-
OLFM3-
-
-
-
1Loss-
OLFM4-
-
-
-
5Amp-
OLFML2A-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OLR1-
-
-
-
1Loss-
OMD-
-
-
-
3Gain-
OMG-
-
-
-
3Gain-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OPA3-
-
-
-
3Gain-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPLAHp.G889_Q893delinsE
In_Frame_Del
DEL
0.346
2--
OPN1SW-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
3Gain-
OPRL1-
-
-
-
5Amp-
OPTN-
-
-
-
3Gain-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10P1-
-
-
-
1Loss-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13J1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1F1-
-
-
-
3Gain-
OR1G1p.L6M
Missense
SNP
1.000
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-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AP1-
-
-
-
1Loss-
OR2C1-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2K2-
-
-
-
3Gain-
OR2S2-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4M2-
-
-
-
0Del-
OR4N4-
-
-
-
0Del-
OR52L1p.R252*
Nonsense
SNP
0.378
2--
OR5BS1P-
-
-
-
1Loss-
OR5C1-
-
-
-
3Gain-
OR6B1-
-
-
-
3Gain-
OR6B2-
-
-
-
3Gain-
OR6B3-
-
-
-
3Gain-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6N1p.I25S
Missense
SNP
0.388
2--
OR6V1-
-
-
-
3Gain-
OR8S1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9K2-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORAI2-
-
-
-
3Gain-
ORC2-
-
-
-
3Gain-
ORC4-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORC6p.L101I
Missense
SNP
0.350
2--
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL1-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL2-
-
-
-
5Amp-
OSBPL3-
-
-
-
3Gain-
OSBPL6-
-
-
-
3Gain-
OSBPL8-
-
-
-
1Loss-
OSCAR-
-
-
-
3Gain-
OSER1-
-
-
-
5Amp-
OSGEPL1-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSMR-
-
-
-
3Gain-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
1Loss-
OTOGL-
-
-
-
1Loss-
OTOL1-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTOS-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
3Gain-
OTUD3-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX1-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVCH1-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXCT1-
-
-
-
3Gain-
OXER1-
-
-
-
3Gain-
OXGR1-
-
-
-
5Amp-
OXT-
-
-
-
3Gain-
P2RX1-
-
-
-
1Loss-
P2RX2-
-
-
-
0Del-
P2RX4-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY1-
-
-
-
1Loss-
P3H2-
-
-
-
1Loss-
P3H3-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PABPC1L-
-
-
-
5Amp-
PABPC3-
-
-
-
5Amp-
PABPC4L-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAH-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAIP2B-
-
-
-
3Gain-
PAK5-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
0Del-
PALM2-
-
-
-
3Gain-
PALMD-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAM16-
-
-
-
3Gain-
PAN2-
-
-
-
1Loss-
PAN3-
-
-
-
5Amp-
PANK1-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANK3-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPOLG-
-
-
-
3Gain-
PAPSS2-
-
-
-
1Loss-
PAQR4-
-
-
-
3Gain-
PAQR5-
-
-
-
1Loss-
PAQR7-
-
-
-
1Loss-
PAQR9-
-
-
-
1Loss-
PARD3B-
-
-
-
3Gain-
PARD6B-
-
-
-
5Amp-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP16-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
5Amp-
PARP6-
-
-
-
1Loss-
PARP8p.A568V
Missense
SNP
0.538
1Loss-
PARPBP-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PASK-
-
-
-
3Gain-
PATJp.A1504T
Missense
SNP
0.641
2--
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX1-
-
-
-
3Gain-
PAX2-
-
-
-
1Loss-
PAX3-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX5-
-
-
-
3Gain-
PAX7-
-
-
-
1Loss-
PAX8-
-
-
-
3Gain-
PAXBP1-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
3Gain-
PBLD-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX3-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP1-
-
-
-
3Gain-
PCBP2-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
5Amp-
PCCB-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH17-
-
-
-
5Amp-
PCDH18p.E185K
Missense
SNP
1.000
1Loss-
PCDH20-
-
-
-
5Amp-
PCDH8-
-
-
-
5Amp-
PCDH9-
-
-
-
5Amp-
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-
PCDHGA4p.R25*
Nonsense
SNP
0.450
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-
PCED1B-
-
-
-
1Loss-
PCGF1-
-
-
-
3Gain-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCID2-
-
-
-
5Amp-
PCIF1-
-
-
-
5Amp-
PCK1-
-
-
-
5Amp-
PCLAF-
-
-
-
1Loss-
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
3Gain-
PCMTD2-
-
-
-
5Amp-
PCNA-
-
-
-
3Gain-
PCNX2-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PCOLCE2-
-
-
-
1Loss-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCYOX1-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PDAP1-
-
-
-
3Gain-
PDCD1-
-
-
-
3Gain-
PDCD10-
-
-
-
1Loss-
PDCD11-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
3Gain-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDCL-
-
-
-
3Gain-
PDCL2-
-
-
-
1Loss-
PDCL3-
-
-
-
3Gain-
PDE11A-
-
-
-
3Gain-
PDE1A-
-
-
-
3Gain-
PDE1B-
-
-
-
1Loss-
PDE1C-
-
-
-
3Gain-
PDE3A-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6A-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
3Gain-
PDE6H-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDGFRA-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
3Gain-
PDIA2-
-
-
-
3Gain-
PDIA3-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDIK1L-
-
-
-
1Loss-
PDK1-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
3Gain-
PDLIM3-
-
-
-
0Del-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDPK1-
-
-
-
3Gain-
PDPN-
-
-
-
1Loss-
PDRG1-
-
-
-
5Amp-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
5Amp-
PDSS1-
-
-
-
3Gain-
PDX1-
-
-
-
5Amp-
PDXP-
-
-
-
1Loss-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZRN4-
-
-
-
1Loss-
PEAK1-
-
-
-
1Loss-
PEBP1-
-
-
-
1Loss-
PEBP4-
-
-
-
3Gain-
PECR-
-
-
-
3Gain-
PEF1-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PEG3-
-
-
-
3Gain-
PELI1-
-
-
-
3Gain-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PER1-
-
-
-
1Loss-
PER2-
-
-
-
3Gain-
PER3-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX11A-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX12-
-
-
-
3Gain-
PEX13-
-
-
-
3Gain-
PEX14-
-
-
-
1Loss-
PEX26-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN4-
-
-
-
5Amp-
PFDN5-
-
-
-
1Loss-
PFKFB3-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFKP-
-
-
-
3Gain-
PFN1-
-
-
-
1Loss-
PFN3-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAM5-
-
-
-
0Del-
PGAP1-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGBD5-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGLYRP1-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGM5-
-
-
-
3Gain-
PGP-
-
-
-
3Gain-
PGPEP1L-
-
-
-
1Loss-
PHACTR3-
-
-
-
5Amp-
PHACTR4-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC2-
-
-
-
1Loss-
PHETA1-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF11-
-
-
-
5Amp-
PHF12-
-
-
-
3Gain-
PHF13-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20-
-
-
-
5Amp-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGDH-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA1-
-
-
-
1Loss-
PHLDB3-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
3Gain-
PHOX2B-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PHYHIP-
-
-
-
3Gain-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI3-
-
-
-
5Amp-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KA-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS1-
-
-
-
1Loss-
PIAS2p.S533A
Missense
SNP
0.505
1Loss-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
5Amp-
PICK1-
-
-
-
1Loss-
PID1-
-
-
-
3Gain-
PIEZO2-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGF-
-
-
-
3Gain-
PIGK-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
3Gain-
PIGQ-
-
-
-
3Gain-
PIGS-
-
-
-
3Gain-
PIGT-
-
-
-
5Amp-
PIGU-
-
-
-
5Amp-
PIGV-
-
-
-
1Loss-
PIGW-
-
-
-
3Gain-
PIH1D1-
-
-
-
3Gain-
PIK3AP1-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CAp.E545K
Missense
SNP
0.630
2--
PIK3CB-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R4-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
3Gain-
PINX1-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP4K2C-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIP5KL1-
-
-
-
3Gain-
PIPOX-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
3Gain-
PITX1-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PIWIL2-
-
-
-
3Gain-
PIWIL3-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PJVK-
-
-
-
3Gain-
PKD1-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDCC-
-
-
-
3Gain-
PKDREJ-
-
-
-
1Loss-
PKIG-
-
-
-
5Amp-
PKM-
-
-
-
1Loss-
PKMYT1-
-
-
-
3Gain-
PKN2-
-
-
-
1Loss-
PKN3-
-
-
-
3Gain-
PKNOX2p.S205F
Missense
SNP
0.686
2--
PKP2-
-
-
-
1Loss-
PKP4-
-
-
-
3Gain-
PLA1A-
-
-
-
3Gain-
PLA2G12B-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4C-
-
-
-
3Gain-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLA2R1-
-
-
-
3Gain-
PLAA-
-
-
-
3Gain-
PLAC8L1-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL2-
-
-
-
5Amp-
PLAT-
-
-
-
3Gain-
PLAU-
-
-
-
1Loss-
PLAUR-
-
-
-
3Gain-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB1p.V229G
Missense
SNP
0.227
3Gain-
PLCB2-
-
-
-
1Loss-
PLCB4-
-
-
-
3Gain-
PLCD4-
-
-
-
3Gain-
PLCE1-
-
-
-
1Loss-
PLCG1-
-
-
-
5Amp-
PLCH1-
-
-
-
1Loss-
PLCL1-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLCZ1-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEK-
-
-
-
3Gain-
PLEKHA1-
-
-
-
1Loss-
PLEKHA2-
-
-
-
3Gain-
PLEKHA3-
-
-
-
3Gain-
PLEKHA4-
-
-
-
3Gain-
PLEKHA5-
-
-
-
1Loss-
PLEKHA8-
-
-
-
3Gain-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHH1p.K34N
Missense
SNP
0.288
2--
PLEKHH2-
-
-
-
3Gain-
PLEKHM2-
-
-
-
1Loss-
PLEKHM3-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
1Loss-
PLEKHS1-
-
-
-
1Loss-
PLGRKT-
-
-
-
3Gain-
PLIN1-
-
-
-
1Loss-
PLIN2-
-
-
-
3Gain-
PLK2-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLOD2-
-
-
-
1Loss-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
3Gain-
PLPP1-
-
-
-
1Loss-
PLPP3p.F158V
Missense
SNP
0.198
2--
PLPP4-
-
-
-
1Loss-
PLPP5-
-
-
-
3Gain-
PLPP6-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLS1-
-
-
-
1Loss-
PLSCR1-
-
-
-
1Loss-
PLSCR2-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
1Loss-
PLSCR5-
-
-
-
1Loss-
PLTP-
-
-
-
5Amp-
PLXDC2-
-
-
-
3Gain-
PLXNA1-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB3p.K1463T
Missense
SNP
0.296
NDND-
PLXNC1-
-
-
-
1Loss-
PLXND1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMEPA1-
-
-
-
5Amp-
PML-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS1-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNKD-
-
-
-
3Gain-
PNKP-
-
-
-
3Gain-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA2-
-
-
-
3Gain-
PNMA8A-
-
-
-
3Gain-
PNMA8B-
-
-
-
3Gain-
PNO1-
-
-
-
3Gain-
PNOC-
-
-
-
3Gain-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNPT1-
-
-
-
3Gain-
PNRC2-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
1Loss-
POFUT1-
-
-
-
5Amp-
POGLUT1-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLB-
-
-
-
3Gain-
POLD1-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLDIP2-
-
-
-
3Gain-
POLDIP3-
-
-
-
1Loss-
POLE-
-
-
-
0Del-
POLE3-
-
-
-
3Gain-
POLE4-
-
-
-
3Gain-
POLG-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLR1A-
-
-
-
3Gain-
POLR1B-
-
-
-
3Gain-
POLR1D-
-
-
-
5Amp-
POLR1E-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2D-
-
-
-
3Gain-
POLR2F-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3F-
-
-
-
3Gain-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POLR3K-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMGNT2-
-
-
-
3Gain-
POMK-
-
-
-
3Gain-
POMP-
-
-
-
5Amp-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP5-
-
-
-
1Loss-
POP7-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POSTN-
-
-
-
5Amp-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
0Del-
POTEB2-
-
-
-
0Del-
POTEB3-
-
-
-
0Del-
POTEC-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POTEH-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU3F3-
-
-
-
3Gain-
POU4F1-
-
-
-
5Amp-
POU4F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
POU6F1-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PPA1-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPARG-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPDPF-
-
-
-
5Amp-
PPDPFL-
-
-
-
3Gain-
PPFIA2-
-
-
-
1Loss-
PPFIA3-
-
-
-
3Gain-
PPFIBP1-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIAL4A-
-
-
-
1Loss-
PPIAL4C-
-
-
-
3Gain-
PPIAL4D-
-
-
-
3Gain-
PPIAL4E-
-
-
-
3Gain-
PPIAL4G-
-
-
-
3Gain-
PPIB-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIG-
-
-
-
3Gain-
PPIL2-
-
-
-
1Loss-
PPIL3-
-
-
-
3Gain-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPL-
-
-
-
3Gain-
PPM1B-
-
-
-
3Gain-
PPM1F-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1J-
-
-
-
1Loss-
PPM1L-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPM1N-
-
-
-
3Gain-
PPP1CC-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R12C-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R13L-
-
-
-
3Gain-
PPP1R14D-
-
-
-
1Loss-
PPP1R15A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
5Amp-
PPP1R17-
-
-
-
3Gain-
PPP1R1A-
-
-
-
1Loss-
PPP1R1C-
-
-
-
3Gain-
PPP1R21-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R37-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R3D-
-
-
-
5Amp-
PPP1R7-
-
-
-
3Gain-
PPP1R8-
-
-
-
1Loss-
PPP1R9Ap.H398Y
Missense
SNP
0.500
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
3Gain-
PPP2R1A-
-
-
-
3Gain-
PPP2R2A-
-
-
-
3Gain-
PPP2R2B-
-
-
-
1Loss-
PPP2R2Cp.V395M
Missense
SNP
1.000
2--
PPP2R2D-
-
-
-
1Loss-
PPP2R3A-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5C-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3CC-
-
-
-
3Gain-
PPP3R1-
-
-
-
3Gain-
PPP3R2-
-
-
-
3Gain-
PPP4R1-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R3B-
-
-
-
3Gain-
PPP4R4-
-
-
-
1Loss-
PPP5C-
-
-
-
3Gain-
PPP5D1-
-
-
-
3Gain-
PPP6C-
-
-
-
3Gain-
PPP6R1-
-
-
-
3Gain-
PPRC1-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PQLC2L-
-
-
-
1Loss-
PRADC1-
-
-
-
3Gain-
PRAME-
-
-
-
1Loss-
PRAMEF1p.M310L
p.Y316F
Missense
Missense
SNP
SNP
0.417
0.500
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF27-
-
-
-
1Loss-
PRAMEF4-
-
-
-
1Loss-
PRAMEF5-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF9-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRDM12-
-
-
-
3Gain-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
1Loss-
PRDM5p.A386V
Missense
SNP
0.384
2--
PRDM6-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PRELID3B-
-
-
-
5Amp-
PREPLp.K272N
Missense
SNP
0.216
3Gain-
PREX1-
-
-
-
5Amp-
PRF1-
-
-
-
1Loss-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
0Del-
PRKAA1-
-
-
-
3Gain-
PRKAB1-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
1Loss-
PRKAG2-
-
-
-
3Gain-
PRKAG3-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKAR2B-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCE-
-
-
-
3Gain-
PRKCG-
-
-
-
3Gain-
PRKCQ-
-
-
-
3Gain-
PRKD2-
-
-
-
3Gain-
PRKDC-
-
-
-
3Gain-
PRKRA-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRLH-
-
-
-
3Gain-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT1-
-
-
-
3Gain-
PRMT6-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROC-
-
-
-
3Gain-
PROCA1-
-
-
-
3Gain-
PROCR-
-
-
-
5Amp-
PRODH-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROKR1-
-
-
-
3Gain-
PROKR2-
-
-
-
3Gain-
PROM1-
-
-
-
1Loss-
PROM2-
-
-
-
3Gain-
PROP1-
-
-
-
1Loss-
PROSER1-
-
-
-
5Amp-
PROSER2-
-
-
-
3Gain-
PROX1-
-
-
-
3Gain-
PROZ-
-
-
-
5Amp-
PRPF18-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF31-
-
-
-
3Gain-
PRPF38B-
-
-
-
1Loss-
PRPF4-
-
-
-
3Gain-
PRPF40A-
-
-
-
3Gain-
PRPF40B-
-
-
-
1Loss-
PRPF6-
-
-
-
5Amp-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR12-
-
-
-
3Gain-
PRR13-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR23A-
-
-
-
1Loss-
PRR23B-
-
-
-
1Loss-
PRR23C-
-
-
-
1Loss-
PRR26-
-
-
-
3Gain-
PRR35-
-
-
-
3Gain-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRG2-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRRX2-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS21-
-
-
-
3Gain-
PRSS22-
-
-
-
3Gain-
PRSS27-
-
-
-
3Gain-
PRSS3-
-
-
-
3Gain-
PRSS33-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS41-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS55-
-
-
-
3Gain-
PRSS56-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRTG-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRXL2A-
-
-
-
1Loss-
PRXL2C-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSAT1-
-
-
-
3Gain-
PSD-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
3Gain-
PSD4-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
3Gain-
PSG11-
-
-
-
3Gain-
PSG2-
-
-
-
3Gain-
PSG3-
-
-
-
3Gain-
PSG4-
-
-
-
3Gain-
PSG5-
-
-
-
3Gain-
PSG6-
-
-
-
3Gain-
PSG7-
-
-
-
3Gain-
PSG8-
-
-
-
3Gain-
PSG9p.T73M
Missense
SNP
0.475
3Gain-
PSIP1-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA7-
-
-
-
5Amp-
PSMA8-
-
-
-
1Loss-
PSMB2-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMD1-
-
-
-
3Gain-
PSMD11-
-
-
-
3Gain-
PSMD14-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD5-
-
-
-
3Gain-
PSMD9-
-
-
-
1Loss-
PSME4-
-
-
-
3Gain-
PSMF1-
-
-
-
3Gain-
PSMG2-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
5Amp-
PSPH-
-
-
-
3Gain-
PSRC1-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
0Del-
PTAR1-
-
-
-
3Gain-
PTBP2-
-
-
-
1Loss-
PTBP3-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCD3-
-
-
-
3Gain-
PTCH1-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGER3-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGES3-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGIR-
-
-
-
3Gain-
PTGIS-
-
-
-
5Amp-
PTGR1-
-
-
-
3Gain-
PTGS1-
-
-
-
3Gain-
PTH2-
-
-
-
3Gain-
PTH2R-
-
-
-
3Gain-
PTHLH-
-
-
-
1Loss-
PTK2B-
-
-
-
3Gain-
PTK6-
-
-
-
5Amp-
PTMA-
-
-
-
3Gain-
PTMS-
-
-
-
1Loss-
PTN-
-
-
-
3Gain-
PTOV1-
-
-
-
3Gain-
PTP4A2-
-
-
-
1Loss-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPN1-
-
-
-
5Amp-
PTPN11-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN2-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN4-
-
-
-
3Gain-
PTPN6-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
1Loss-
PTPRD-
-
-
-
3Gain-
PTPRE-
-
-
-
1Loss-
PTPRH-
-
-
-
3Gain-
PTPRM-
-
-
-
1Loss-
PTPRN-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRTp.K1430T
p.K909T
Missense
Missense
SNP
SNP
0.152
0.122
5Amp-
PTPRU-
-
-
-
1Loss-
PTPRZ1-
-
-
-
3Gain-
PTRH1-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PTX3-
-
-
-
1Loss-
PTX4-
-
-
-
3Gain-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
3Gain-
PUS1-
-
-
-
1Loss-
PUS10-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PUS7L-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PVR-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWP1-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDNp.Q1160*
Nonsense
SNP
0.614
2--
PXDNL-
-
-
-
3Gain-
PXMP2-
-
-
-
0Del-
PXMP4-
-
-
-
5Amp-
PXN-
-
-
-
1Loss-
PXYLP1-
-
-
-
1Loss-
PYCR2-
-
-
-
3Gain-
PYDC2-
-
-
-
1Loss-
PYGB-
-
-
-
3Gain-
PYGO1-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYM1-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QPCT-
-
-
-
3Gain-
QPCTL-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HCC1-
-
-
-
3Gain-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
3Gain-
R3HDM2-
-
-
-
1Loss-
R3HDML-
-
-
-
5Amp-
RAB11A-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP3-
-
-
-
3Gain-
RAB11FIP4-
-
-
-
3Gain-
RAB11FIP5-
-
-
-
3Gain-
RAB12-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB14-
-
-
-
3Gain-
RAB17-
-
-
-
3Gain-
RAB18-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RAB1A-
-
-
-
3Gain-
RAB20-
-
-
-
4Gain-
RAB21-
-
-
-
1Loss-
RAB22A-
-
-
-
5Amp-
RAB24-
-
-
-
1Loss-
RAB26-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB31-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB34-
-
-
-
3Gain-
RAB35-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3GAP1-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB3IP-
-
-
-
1Loss-
RAB40C-
-
-
-
3Gain-
RAB42-
-
-
-
1Loss-
RAB43-
-
-
-
1Loss-
RAB4A-
-
-
-
3Gain-
RAB5B-
-
-
-
1Loss-
RAB5IF-
-
-
-
5Amp-
RAB6B-
-
-
-
1Loss-
RAB7A-
-
-
-
1Loss-
RAB8B-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABL2A-
-
-
-
3Gain-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD21L1-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51D-
-
-
-
3Gain-
RAD51L3-RFFL-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RAD9B-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
5Amp-
RAF1-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALB-
-
-
-
3Gain-
RALBP1-
-
-
-
1Loss-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
5Amp-
RALGPS1-
-
-
-
3Gain-
RALY-
-
-
-
5Amp-
RAMAC-
-
-
-
1Loss-
RAMP1-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP2-
-
-
-
3Gain-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
1Loss-
RAP1GAP-
-
-
-
0Del-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
5Amp-
RAP2B-
-
-
-
1Loss-
RAPGEF2-
-
-
-
1Loss-
RAPGEF3-
-
-
-
1Loss-
RAPGEF4-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPH1-
-
-
-
3Gain-
RARG-
-
-
-
1Loss-
RARRES1-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
1Loss-
RASA3-
-
-
-
5Amp-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL1-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASEF-
-
-
-
3Gain-
RASGEF1C-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASIP1-
-
-
-
3Gain-
RASL10A-
-
-
-
1Loss-
RASL10B-
-
-
-
3Gain-
RASL11A-
-
-
-
5Amp-
RASL11B-
-
-
-
1Loss-
RASL12-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1p.E440K
Missense
SNP
0.553
5Amp-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
1Loss-
RBBP8-
-
-
-
1Loss-
RBBP8NL-
-
-
-
5Amp-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBL1-
-
-
-
5Amp-
RBM11-
-
-
-
1Loss-
RBM12-
-
-
-
5Amp-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM26-
-
-
-
5Amp-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
5Amp-
RBM39-
-
-
-
5Amp-
RBM43-
-
-
-
3Gain-
RBM44-
-
-
-
3Gain-
RBM45-
-
-
-
3Gain-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM48-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS1-
-
-
-
3Gain-
RBMS2-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RBP1-
-
-
-
1Loss-
RBP2-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPJL-
-
-
-
5Amp-
RBPMS-
-
-
-
3Gain-
RBPMS2-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H2-
-
-
-
3Gain-
RCAN1-
-
-
-
1Loss-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
5Amp-
RCBTB2-
-
-
-
5Amp-
RCC1-
-
-
-
1Loss-
RCC1L-
-
-
-
3Gain-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCL1-
-
-
-
3Gain-
RCN2-
-
-
-
1Loss-
RCN3-
-
-
-
3Gain-
RCOR1-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
1Loss-
RDH13-
-
-
-
3Gain-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDM1-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
RECK-
-
-
-
3Gain-
RECQL-
-
-
-
1Loss-
REELD1-
-
-
-
1Loss-
REEP1-
-
-
-
3Gain-
REEP2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
3Gain-
REEP5-
-
-
-
1Loss-
REG1A-
-
-
-
3Gain-
REG1B-
-
-
-
3Gain-
REG3A-
-
-
-
3Gain-
REG3G-
-
-
-
3Gain-
REG4-
-
-
-
1Loss-
REL-
-
-
-
3Gain-
RELB-
-
-
-
3Gain-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELNp.R2428W
Missense
SNP
0.270
3Gain-
REM1-
-
-
-
5Amp-
REP15-
-
-
-
1Loss-
REPIN1-
-
-
-
3Gain-
RERE-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RESP18-
-
-
-
3Gain-
REST-
-
-
-
1Loss-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
3Gain-
RETSAT-
-
-
-
3Gain-
REV1-
-
-
-
3Gain-
RFC1-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFC3-
-
-
-
5Amp-
RFC5-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFFL-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFLNA-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFPL4A-
-
-
-
3Gain-
RFPL4AL1-
-
-
-
3Gain-
RFT1-
-
-
-
1Loss-
RFTN2-
-
-
-
3Gain-
RFX3-
-
-
-
3Gain-
RFX4-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
1Loss-
RFX8-
-
-
-
3Gain-
RFXAP-
-
-
-
5Amp-
RGCC-
-
-
-
5Amp-
RGL4-
-
-
-
1Loss-
RGMA-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
3Gain-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS11-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS19-
-
-
-
5Amp-
RGS20-
-
-
-
3Gain-
RGS3-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RHBDD1-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHBDF1-
-
-
-
3Gain-
RHBDL1-
-
-
-
3Gain-
RHBDL3-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
1Loss-
RHO-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB2-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOQ-
-
-
-
3Gain-
RHOT1-
-
-
-
3Gain-
RHOT2-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RIBC2-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIC8B-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RIF1-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIMS4-
-
-
-
5Amp-
RIN2-
-
-
-
3Gain-
RIN3-
-
-
-
1Loss-
RINT1-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIPOR3-
-
-
-
5Amp-
RIT2-
-
-
-
1Loss-
RITA1-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMC1-
-
-
-
1Loss-
RMDN2-
-
-
-
3Gain-
RMDN3-
-
-
-
1Loss-
RMI1-
-
-
-
3Gain-
RMND5A-
-
-
-
3Gain-
RMND5B-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDCSNK1D--RNA5-8SN2
RNASEH2B-
-
-
-
5Amp-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RND3-
-
-
-
3Gain-
RNF10-
-
-
-
1Loss-
RNF103-
-
-
-
3Gain-
RNF103-CHMP3-
-
-
-
3Gain-
RNF111-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
5Amp-
RNF114-
-
-
-
5Amp-
RNF115-
-
-
-
3Gain-
RNF122-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF135-
-
-
-
3Gain-
RNF138-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF149-
-
-
-
3Gain-
RNF150-
-
-
-
1Loss-
RNF151-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
5Amp-
RNF170-
-
-
-
3Gain-
RNF175-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF181-
-
-
-
3Gain-
RNF183-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF19B-
-
-
-
1Loss-
RNF20-
-
-
-
3Gain-
RNF207-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
5Amp-
RNF222-
-
-
-
1Loss-
RNF225-
-
-
-
3Gain-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF25-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
1Loss-
RNF38-
-
-
-
3Gain-
RNF41-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNF6-
-
-
-
5Amp-
RNF7-
-
-
-
1Loss-
RNFT2-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
RNPC3-
-
-
-
1Loss-
RNPEPL1-
-
-
-
3Gain-
RNPS1-
-
-
-
3Gain-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK1-
-
-
-
1Loss-
ROGDI-
-
-
-
3Gain-
ROMO1-
-
-
-
5Amp-
ROPN1B-
-
-
-
1Loss-
ROPN1L-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
1Loss-
RORB-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
3Gain-
RP11-240B13.2p.M301L
Missense
SNP
0.340
NDND-
RP1L1-
-
-
-
3Gain-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPAP3-
-
-
-
1Loss-
RPE-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPIA-
-
-
-
3Gain-
RPL11-
-
-
-
1Loss-
RPL12-
-
-
-
3Gain-
RPL13A-
-
-
-
3Gain-
RPL14-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18-
-
-
-
3Gain-
RPL21-
-
-
-
5Amp-
RPL22-
-
-
-
1Loss-
RPL23A-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL28-
-
-
-
3Gain-
RPL3-
-
-
-
1Loss-
RPL31-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL35-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL37A-
-
-
-
3Gain-
RPL3L-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL9-
-
-
-
1Loss-
RPLP0-
-
-
-
1Loss-
RPLP1-
-
-
-
1Loss-
RPN1-
-
-
-
1Loss-
RPN2-
-
-
-
5Amp-
RPP25-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPRD1B-
-
-
-
5Amp-
RPRD2-
-
-
-
3Gain-
RPRM-
-
-
-
3Gain-
RPS11-
-
-
-
3Gain-
RPS14-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS2-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
5Amp-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS26-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS27A-
-
-
-
3Gain-
RPS27L-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
3Gain-
RPS6-
-
-
-
3Gain-
RPS6KA1-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPS9-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPUSD1-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RRAGA-
-
-
-
3Gain-
RRAS-
-
-
-
3Gain-
RRBP1-
-
-
-
3Gain-
RRP12-
-
-
-
1Loss-
RRP15-
-
-
-
3Gain-
RRP7A-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RSBN1-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSC1A1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
1Loss-
RSPH6A-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSRC1-
-
-
-
1Loss-
RSRC2-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RSU1-
-
-
-
3Gain-
RTCA-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTEL1-
-
-
-
5Amp-
RTEL1-TNFRSF6B-
-
-
-
5Amp-
RTF1p.N423Kfs*16
Frame_Shift_Del
DEL
0.336
1Loss-
RTF2-
-
-
-
5Amp-
RTKN-
-
-
-
3Gain-
RTKN2-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN2-
-
-
-
3Gain-
RTN4-
-
-
-
3Gain-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP5-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
5Amp-
RUFY1-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY4-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUNX1-
-
-
-
1Loss-
RUNX3-
-
-
-
1Loss-
RUSC2-
-
-
-
3Gain-
RUVBL1-
-
-
-
1Loss-
RUVBL2-
-
-
-
3Gain-
RWDD2B-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RWDD4-
-
-
-
0Del-
RXFP1-
-
-
-
1Loss-
RXFP2-
-
-
-
5Amp-
RXFP3-
-
-
-
3Gain-
RXYLT1-
-
-
-
1Loss-
RYK-
-
-
-
1Loss-
RYR2p.L2555R
Missense
SNP
0.229
3Gain-
RYR3-
-
-
-
1Loss-
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-
S100PBP-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR1-
-
-
-
1Loss-
S1PR3-
-
-
-
3Gain-
SACS-
-
-
-
5Amp-
SAE1-
-
-
-
3Gain-
SAG-
-
-
-
3Gain-
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
5Amp-
SAMD10-
-
-
-
5Amp-
SAMD13-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMHD1-
-
-
-
5Amp-
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP130-
-
-
-
3Gain-
SAP18-
-
-
-
5Amp-
SAP25-
-
-
-
3Gain-
SAP30-
-
-
-
0Del-
SAP30L-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
3Gain-
SARM1-
-
-
-
3Gain-
SARNP-
-
-
-
1Loss-
SARS-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB2-
-
-
-
3Gain-
SAXO1-
-
-
-
3Gain-
SAXO2-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
1Loss-
SBK2-
-
-
-
3Gain-
SBK3-
-
-
-
3Gain-
SBNO1-
-
-
-
1Loss-
SCAF1-
-
-
-
3Gain-
SCAF11-
-
-
-
1Loss-
SCAF4-
-
-
-
1Loss-
SCAI-
-
-
-
3Gain-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
1Loss-
SCAND1-
-
-
-
5Amp-
SCAPER-
-
-
-
1Loss-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCARB1-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCCPDH-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCEL-
-
-
-
5Amp-
SCFD2-
-
-
-
1Loss-
SCG2p.K71T
Missense
SNP
0.210
3Gain-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCHIP1-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCLY-
-
-
-
3Gain-
SCN1A-
-
-
-
3Gain-
SCN2A-
-
-
-
3Gain-
SCN3A-
-
-
-
3Gain-
SCN7A-
-
-
-
3Gain-
SCN8A-
-
-
-
1Loss-
SCN9A-
-
-
-
3Gain-
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCRG1-
-
-
-
0Del-
SCRN1-
-
-
-
3Gain-
SCRN3-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCTR-
-
-
-
3Gain-
SCUBE1-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDC4-
-
-
-
5Amp-
SDCBP-
-
-
-
3Gain-
SDCBP2-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHB-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEBOX-
-
-
-
3Gain-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L5-
-
-
-
3Gain-
SEC14L6-
-
-
-
1Loss-
SEC16Ap.Y1320H
Missense
SNP
0.067
2--
SEC22B-
-
-
-
1Loss-
SEC22C-
-
-
-
3Gain-
SEC23B-
-
-
-
3Gain-
SEC23IP-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEC63p.K135N
Missense
SNP
0.292
2--
SECISBP2-
-
-
-
3Gain-
SECISBP2L-
-
-
-
1Loss-
SEH1L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SEL1L3-
-
-
-
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOP-
-
-
-
3Gain-
SELENOS-
-
-
-
1Loss-
SELENOW-
-
-
-
3Gain-
SELPLG-
-
-
-
1Loss-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4B-
-
-
-
1Loss-
SEMA4C-
-
-
-
3Gain-
SEMA4D-
-
-
-
3Gain-
SEMA4F-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SEMG1-
-
-
-
5Amp-
SEMG2-
-
-
-
5Amp-
SENP1-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPHS1-
-
-
-
3Gain-
SEPSECS-
-
-
-
1Loss-
SEPT10-
-
-
-
3Gain-
SEPT12-
-
-
-
3Gain-
SEPT14-
-
-
-
3Gain-
SEPT2-
-
-
-
3Gain-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
5Amp-
SERINC4-
-
-
-
1Loss-
SERINC5p.L312V
Missense
SNP
0.403
1Loss-
SERP2-
-
-
-
5Amp-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4p.Q61H
Missense
SNP
0.522
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPIND1-
-
-
-
1Loss-
SERPINE1-
-
-
-
3Gain-
SERPINE2-
-
-
-
3Gain-
SERPINE3-
-
-
-
5Amp-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINI1-
-
-
-
1Loss-
SERPINI2-
-
-
-
1Loss-
SERTAD2-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SERTM1-
-
-
-
5Amp-
SESN2-
-
-
-
0Del-
SESTD1-
-
-
-
3Gain-
SET-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD1Ap.R217H
Missense
SNP
0.698
2--
SETD1B-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
5Amp-
SEZ6-
-
-
-
3Gain-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B1-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
3Gain-
SFN-
-
-
-
1Loss-
SFPQ-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP1-
-
-
-
3Gain-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFRP5-
-
-
-
1Loss-
SFSWAP-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
3Gain-
SFTPC-
-
-
-
3Gain-
SFTPD-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SFXN5-
-
-
-
3Gain-
SGCB-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCG-
-
-
-
5Amp-
SGCZ-
-
-
-
3Gain-
SGK2-
-
-
-
5Amp-
SGK494-
-
-
-
3Gain-
SGO2-
-
-
-
3Gain-
SGPL1-
-
-
-
1Loss-
SGPP2-
-
-
-
3Gain-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
1Loss-
SH2D3C-
-
-
-
3Gain-
SH2D4A-
-
-
-
3Gain-
SH2D4B-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH2D6-
-
-
-
3Gain-
SH2D7-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP2p.S159I
Missense
SNP
1.000
2--
SH3BP4-
-
-
-
3Gain-
SH3D19-
-
-
-
1Loss-
SH3GL2-
-
-
-
3Gain-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF1-
-
-
-
0Del-
SH3RF2-
-
-
-
1Loss-
SH3RF3-
-
-
-
3Gain-
SH3TC2-
-
-
-
1Loss-
SHANK1-
-
-
-
3Gain-
SHANK3-
-
-
-
1Loss-
SHB-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC3-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA2-
-
-
-
5Amp-
SHISA3-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA7-
-
-
-
3Gain-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHOX2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIp.L1710P
Missense
SNP
0.548
1Loss-
SIAH3-
-
-
-
5Amp-
SIDT1-
-
-
-
3Gain-
SIGLEC1-
-
-
-
3Gain-
SIGLEC10-
-
-
-
3Gain-
SIGLEC11-
-
-
-
3Gain-
SIGLEC12-
-
-
-
3Gain-
SIGLEC14-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIGLEC5-
-
-
-
3Gain-
SIGLEC6-
-
-
-
3Gain-
SIGLEC7-
-
-
-
3Gain-
SIGLEC8-
-
-
-
3Gain-
SIGLEC9-
-
-
-
3Gain-
SIGLECL1-
-
-
-
3Gain-
SIGMAR1-
-
-
-
3Gain-
SIKE1-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT1-
-
-
-
1Loss-
SIRT4-
-
-
-
1Loss-
SIT1-
-
-
-
3Gain-
SIVA1-
-
-
-
1Loss-
SIX2-
-
-
-
3Gain-
SIX3p.F145L
Missense
SNP
0.243
3Gain-
SIX5-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
5Amp-
SKAP2-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLA2-
-
-
-
5Amp-
SLAIN1-
-
-
-
5Amp-
SLAIN2-
-
-
-
1Loss-
SLC10A2-
-
-
-
4Gain-
SLC10A4-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
3Gain-
SLC11A2-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
5Amp-
SLC12A6-
-
-
-
1Loss-
SLC12A7-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A2-
-
-
-
3Gain-
SLC13A3-
-
-
-
5Amp-
SLC13A4-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
5Amp-
SLC15A4-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
3Gain-
SLC16A4-
-
-
-
1Loss-
SLC16A7-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A7-
-
-
-
3Gain-
SLC17A8-
-
-
-
1Loss-
SLC17A9-
-
-
-
5Amp-
SLC18A1-
-
-
-
3Gain-
SLC18A2-
-
-
-
1Loss-
SLC19A3-
-
-
-
3Gain-
SLC1A1-
-
-
-
3Gain-
SLC1A3-
-
-
-
3Gain-
SLC1A4-
-
-
-
3Gain-
SLC1A5-
-
-
-
3Gain-
SLC20A1-
-
-
-
3Gain-
SLC20A2-
-
-
-
3Gain-
SLC22A15-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC23A3-
-
-
-
3Gain-
SLC24A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
3Gain-
SLC24A3-
-
-
-
3Gain-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A1-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A12-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A15-
-
-
-
5Amp-
SLC25A16-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A24-
-
-
-
1Loss-
SLC25A25-
-
-
-
3Gain-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A30-
-
-
-
5Amp-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
-
-
-
1Loss-
SLC25A37-
-
-
-
3Gain-
SLC25A4-
-
-
-
0Del-
SLC25A40-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
3Gain-
SLC25A52-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC27A4-
-
-
-
3Gain-
SLC27A5-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC28A3-
-
-
-
3Gain-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A10p.R215W
Missense
SNP
0.150
5Amp-
SLC2A11-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A14-
-
-
-
1Loss-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
5Amp-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC2A8-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A2-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC32A1p.A355T
Missense
SNP
0.323
5Amp-
SLC33A1-
-
-
-
1Loss-
SLC34A1-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35A3-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
5Amp-
SLC35D2-
-
-
-
3Gain-
SLC35E3-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35F5-
-
-
-
3Gain-
SLC35G1-
-
-
-
1Loss-
SLC35G2-
-
-
-
1Loss-
SLC35G3-
-
-
-
3Gain-
SLC35G4-
-
-
-
1Loss-
SLC35G5-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A1-
-
-
-
1Loss-
SLC38A11-
-
-
-
3Gain-
SLC38A2-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A4-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A10-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A14-
-
-
-
3Gain-
SLC39A5-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC3A1-
-
-
-
3Gain-
SLC40A1-
-
-
-
3Gain-
SLC41A2-
-
-
-
1Loss-
SLC41A3-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
3Gain-
SLC44A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A2-
-
-
-
3Gain-
SLC46A1-
-
-
-
3Gain-
SLC46A2-
-
-
-
3Gain-
SLC46A3-
-
-
-
5Amp-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC4A10p.V765_T768del
In_Frame_Del
DEL
0.157
3Gain-
SLC4A11-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A3-
-
-
-
3Gain-
SLC4A5-
-
-
-
3Gain-
SLC4A8-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A7p.R382*
Nonsense
SNP
0.463
3Gain-
SLC5A8-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A16-
-
-
-
3Gain-
SLC6A17-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A3-
-
-
-
3Gain-
SLC6A4-
-
-
-
3Gain-
SLC6A6-
-
-
-
3Gain-
SLC6A7-
-
-
-
1Loss-
SLC6A9p.K310T
Missense
SNP
0.347
2--
SLC7A1-
-
-
-
5Amp-
SLC7A11-
-
-
-
1Loss-
SLC7A2-
-
-
-
3Gain-
SLC7A4-
-
-
-
1Loss-
SLC8A1-
-
-
-
3Gain-
SLC8A2-
-
-
-
3Gain-
SLC8B1-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A2-
-
-
-
3Gain-
SLC9A3p.L768Rfs*75
Frame_Shift_Del
DEL
0.528
3Gain-
SLC9A3R2-
-
-
-
3Gain-
SLC9A4-
-
-
-
3Gain-
SLC9A8-
-
-
-
5Amp-
SLC9A9-
-
-
-
1Loss-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLCO2A1-
-
-
-
1Loss-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
5Amp-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLFN11-
-
-
-
3Gain-
SLFN12-
-
-
-
3Gain-
SLFN12L-
-
-
-
3Gain-
SLFN13-
-
-
-
3Gain-
SLFN14-
-
-
-
3Gain-
SLFN5-
-
-
-
3Gain-
SLIT1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
5Amp-
SLITRK3-
-
-
-
1Loss-
SLITRK5-
-
-
-
5Amp-
SLITRK6-
-
-
-
5Amp-
SLK-
-
-
-
1Loss-
SLPI-
-
-
-
5Amp-
SLTM-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLX4-
-
-
-
3Gain-
SLX4IP-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
5Amp-
SMAGP-
-
-
-
1Loss-
SMARCA2-
-
-
-
3Gain-
SMARCA5-
-
-
-
1Loss-
SMARCAL1-
-
-
-
3Gain-
SMARCB1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMC1B-
-
-
-
1Loss-
SMC2-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMC4-
-
-
-
1Loss-
SMC5-
-
-
-
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMG9-
-
-
-
3Gain-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM12-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM17-
-
-
-
3Gain-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
3Gain-
SMIM2-
-
-
-
5Amp-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
3Gain-
SMIM23-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOX-
-
-
-
3Gain-
SMPDL3B-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD1-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SMYD5-
-
-
-
3Gain-
SNAI1-
-
-
-
5Amp-
SNAI2-
-
-
-
3Gain-
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
3Gain-
SNAPC5-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNED1-
-
-
-
3Gain-
SNORC-
-
-
-
3Gain-
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
3Gain-
SNRNP200-
-
-
-
3Gain-
SNRNP25-
-
-
-
3Gain-
SNRNP27-
-
-
-
3Gain-
SNRNP35-
-
-
-
1Loss-
SNRNP40-
-
-
-
1Loss-
SNRNP70-
-
-
-
3Gain-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
1Loss-
SNRPD2-
-
-
-
3Gain-
SNRPD3-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPG-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
5Amp-
SNTG1-
-
-
-
3Gain-
SNU13-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX18-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
5Amp-
SNX22-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
0Del-
SNX27-
-
-
-
3Gain-
SNX30-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX7-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS5-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOGA1-
-
-
-
5Amp-
SOHLH2-
-
-
-
5Amp-
SON-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
0Del-
SORBS3-
-
-
-
3Gain-
SORCS1-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOS1-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOWAHC-
-
-
-
3Gain-
SOX1-
-
-
-
4Gain-
SOX10-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX14-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
3Gain-
SOX18-
-
-
-
5Amp-
SOX21-
-
-
-
5Amp-
SOX30-
-
-
-
1Loss-
SOX5-
-
-
-
1Loss-
SOX7-
-
-
-
3Gain-
SOX8-
-
-
-
3Gain-
SP1-
-
-
-
1Loss-
SP100-
-
-
-
3Gain-
SP110-
-
-
-
3Gain-
SP140-
-
-
-
3Gain-
SP140L-
-
-
-
3Gain-
SP3-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP5-
-
-
-
3Gain-
SP7-
-
-
-
1Loss-
SP8-
-
-
-
3Gain-
SP9-
-
-
-
3Gain-
SPAAR-
-
-
-
3Gain-
SPACA3-
-
-
-
3Gain-
SPACA4-
-
-
-
3Gain-
SPACA6-
-
-
-
3Gain-
SPACA7-
-
-
-
4Gain-
SPAG16-
-
-
-
3Gain-
SPAG17-
-
-
-
1Loss-
SPAG4-
-
-
-
5Amp-
SPAG5-
-
-
-
3Gain-
SPAG6-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPART-
-
-
-
5Amp-
SPATA1-
-
-
-
1Loss-
SPATA13-
-
-
-
5Amp-
SPATA17-
-
-
-
3Gain-
SPATA18-
-
-
-
1Loss-
SPATA2-
-
-
-
5Amp-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA25-
-
-
-
5Amp-
SPATA3-
-
-
-
3Gain-
SPATA31A1-
-
-
-
3Gain-
SPATA31A3-
-
-
-
3Gain-
SPATA31A5-
-
-
-
3Gain-
SPATA31A6-
-
-
-
3Gain-
SPATA31A7-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA4-
-
-
-
0Del-
SPATA45-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
3Gain-
SPATA7-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATS2-
-
-
-
1Loss-
SPATS2L-
-
-
-
3Gain-
SPC25-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
0Del-
SPDL1-
-
-
-
1Loss-
SPDYE1-
-
-
-
3Gain-
SPDYE2-
-
-
-
3Gain-
SPDYE2B-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPDYE4-
-
-
-
1Loss-
SPDYE5-
-
-
-
3Gain-
SPDYE6-
-
-
-
3Gain-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEF1-
-
-
-
3Gain-
SPEF2-
-
-
-
3Gain-
SPEG-
-
-
-
3Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
5Amp-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHK2-
-
-
-
3Gain-
SPHKAP-
-
-
-
3Gain-
SPIB-
-
-
-
3Gain-
SPIC-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPIN1-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINK4-
-
-
-
3Gain-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPINT3-
-
-
-
5Amp-
SPINT4-
-
-
-
5Amp-
SPIRE1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
5Amp-
SPOCD1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
0Del-
SPOPL-
-
-
-
3Gain-
SPOUT1-
-
-
-
3Gain-
SPP2-
-
-
-
3Gain-
SPPL2A-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPR-
-
-
-
3Gain-
SPRED1-
-
-
-
1Loss-
SPRED2-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRTN-
-
-
-
3Gain-
SPRY2-
-
-
-
5Amp-
SPRY4-
-
-
-
1Loss-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPRYD7-
-
-
-
5Amp-
SPSB1-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPSB3-
-
-
-
3Gain-
SPSB4-
-
-
-
1Loss-
SPTAN1-
-
-
-
3Gain-
SPTBN1-
-
-
-
3Gain-
SPTBN5-
-
-
-
1Loss-
SPTLC1-
-
-
-
3Gain-
SPTLC3-
-
-
-
3Gain-
SPTSSB-
-
-
-
1Loss-
SPX-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRBD1-
-
-
-
3Gain-
SRC-
-
-
-
5Amp-
SRD5A1-
-
-
-
3Gain-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRL-
-
-
-
3Gain-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
5Amp-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP72-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRPRB-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM2-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRM4-
-
-
-
1Loss-
SRRM5-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF10-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF4-
-
-
-
0Del-
SRSF6-
-
-
-
5Amp-
SRSF7-
-
-
-
3Gain-
SRSF9-
-
-
-
1Loss-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
1Loss-
SS18L1-
-
-
-
5Amp-
SS18L2-
-
-
-
3Gain-
SSB-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSC5D-
-
-
-
3Gain-
SSH1-
-
-
-
1Loss-
SSH2-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPN-
-
-
-
1Loss-
SSPO-
-
-
-
3Gain-
SSR3-
-
-
-
1Loss-
SSTR3-
-
-
-
1Loss-
SSTR4-
-
-
-
3Gain-
SSTR5-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
SSX2IP-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST18-
-
-
-
3Gain-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL5-
-
-
-
3Gain-
ST6GAL2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST7L-
-
-
-
1Loss-
ST8SIA1-
-
-
-
1Loss-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
3Gain-
STAB1-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAG1-
-
-
-
1Loss-
STAG3-
-
-
-
3Gain-
STAM-
-
-
-
3Gain-
STAM2-
-
-
-
3Gain-
STAMBP-
-
-
-
3Gain-
STAMBPL1-
-
-
-
1Loss-
STAR-
-
-
-
3Gain-
STARD13-
-
-
-
5Amp-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
3Gain-
STARD9-
-
-
-
1Loss-
STAT1-
-
-
-
3Gain-
STAT2-
-
-
-
1Loss-
STAT4-
-
-
-
3Gain-
STAT6-
-
-
-
1Loss-
STAU1-
-
-
-
5Amp-
STC1-
-
-
-
3Gain-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP3-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STIM2-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11IP-
-
-
-
3Gain-
STK16-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK17B-
-
-
-
3Gain-
STK24-
-
-
-
5Amp-
STK25-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK35-
-
-
-
3Gain-
STK36-
-
-
-
3Gain-
STK38L-
-
-
-
1Loss-
STK39-
-
-
-
3Gain-
STK4-
-
-
-
5Amp-
STMN1-
-
-
-
1Loss-
STMN3-
-
-
-
5Amp-
STMN4-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STOMp.R8W
Missense
SNP
0.255
3Gain-
STOML1-
-
-
-
1Loss-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
5Amp-
STON1-
-
-
-
3Gain-
STON1-GTF2A1L-
-
-
-
3Gain-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
0Del-
STPG1-
-
-
-
1Loss-
STPG4-
-
-
-
3Gain-
STRA6-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRADB-
-
-
-
3Gain-
STRAP-
-
-
-
1Loss-
STRBP-
-
-
-
3Gain-
STRC-
-
-
-
1Loss-
STRIP1-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STRN4-
-
-
-
3Gain-
STUB1-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
5Amp-
STX16-NPEPL1-
-
-
-
5Amp-
STX17-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX2-
-
-
-
1Loss-
STX6p.K184T
Missense
SNP
0.319
2--
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
3Gain-
STXBP3-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLA2-
-
-
-
5Amp-
SUCLG1-
-
-
-
3Gain-
SUCNR1-
-
-
-
1Loss-
SUDS3-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SUGT1-
-
-
-
5Amp-
SULF2-
-
-
-
5Amp-
SULT1C2-
-
-
-
3Gain-
SULT1C3-
-
-
-
3Gain-
SULT1C4-
-
-
-
3Gain-
SULT2A1-
-
-
-
3Gain-
SULT2B1-
-
-
-
3Gain-
SULT4A1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUMO1-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
1Loss-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
5Amp-
SUOX-
-
-
-
1Loss-
SUPT20H-
-
-
-
5Amp-
SUPT6H-
-
-
-
3Gain-
SUPV3L1-
-
-
-
1Loss-
SUSD1-
-
-
-
3Gain-
SUSD2-
-
-
-
1Loss-
SUSD3-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SUZ12-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVEP1-
-
-
-
3Gain-
SVOP-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWI5-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCP1-
-
-
-
1Loss-
SYCP2-
-
-
-
5Amp-
SYCP3-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYMPK-
-
-
-
3Gain-
SYN2-
-
-
-
3Gain-
SYN3-
-
-
-
1Loss-
SYNC-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNE1p.E3212Q
Missense
SNP
0.335
2--
SYNE3-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNGR3-
-
-
-
3Gain-
SYNGR4-
-
-
-
3Gain-
SYNJ1-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYNRG-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
5Amp-
SYS1-DBNDD2-
-
-
-
5Amp-
SYT1-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT14-
-
-
-
3Gain-
SYT3-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
SYT5-
-
-
-
3Gain-
SYT6-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TAC1-
-
-
-
3Gain-
TAC3-
-
-
-
1Loss-
TACC1-
-
-
-
3Gain-
TACC2-
-
-
-
1Loss-
TACR1-
-
-
-
3Gain-
TACR2-
-
-
-
1Loss-
TADA2A-
-
-
-
3Gain-
TAF12-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF15-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1L-
-
-
-
3Gain-
TAF3-
-
-
-
3Gain-
TAF4-
-
-
-
5Amp-
TAF4B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAL2-
-
-
-
3Gain-
TAMM41-
-
-
-
3Gain-
TANC1-
-
-
-
3Gain-
TANGO2-
-
-
-
1Loss-
TANK-
-
-
-
3Gain-
TAOK1-
-
-
-
3Gain-
TAOK3-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARBP2-
-
-
-
1Loss-
TARDBP-
-
-
-
1Loss-
TARM1-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS2R1-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
1Loss-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D13-
-
-
-
3Gain-
TBC1D15-
-
-
-
1Loss-
TBC1D17-
-
-
-
3Gain-
TBC1D19-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D21-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D24-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
3Gain-
TBC1D2B-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D3B-
-
-
-
3Gain-
TBC1D3F-
-
-
-
3Gain-
TBC1D3G-
-
-
-
3Gain-
TBC1D3H-
-
-
-
3Gain-
TBC1D3I-
-
-
-
3Gain-
TBC1D4-
-
-
-
5Amp-
TBC1D8-
-
-
-
3Gain-
TBC1D9-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCE-
-
-
-
3Gain-
TBK1-
-
-
-
1Loss-
TBL2-
-
-
-
3Gain-
TBL3-
-
-
-
3Gain-
TBR1-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
1Loss-
TBX15-
-
-
-
1Loss-
TBX20-
-
-
-
3Gain-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCEA2-
-
-
-
5Amp-
TCEA3-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF20-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCF7L1-
-
-
-
3Gain-
TCF7L2-
-
-
-
1Loss-
TCFL5-
-
-
-
5Amp-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCHP-
-
-
-
1Loss-
TCIM-
-
-
-
3Gain-
TCL1Ap.L50F
Missense
SNP
0.475
1Loss-
TCL1B-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD3-
-
-
-
5Amp-
TDRD7-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
3Gain-
TEAD2-
-
-
-
3Gain-
TEC-
-
-
-
1Loss-
TECPR1-
-
-
-
3Gain-
TECPR2-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDC2-
-
-
-
3Gain-
TEF-
-
-
-
1Loss-
TEFM-
-
-
-
3Gain-
TEK-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEKT4-
-
-
-
3Gain-
TELO2-
-
-
-
3Gain-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
0Del-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TESC-
-
-
-
1Loss-
TESK1-
-
-
-
3Gain-
TESPA1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TET3-
-
-
-
3Gain-
TEX10-
-
-
-
3Gain-
TEX101-
-
-
-
3Gain-
TEX15-
-
-
-
3Gain-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
5Amp-
TEX261-
-
-
-
3Gain-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
4Gain-
TEX30-
-
-
-
5Amp-
TEX33-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX37-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX44-
-
-
-
3Gain-
TEX46-
-
-
-
0Del-
TEX47-
-
-
-
3Gain-
TEX49-
-
-
-
1Loss-
TEX51-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TF-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFAP2C-
-
-
-
5Amp-
TFAP2E-
-
-
-
1Loss-
TFAP4-
-
-
-
3Gain-
TFB2M-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFCP2L1-
-
-
-
3Gain-
TFDP1-
-
-
-
5Amp-
TFDP2-
-
-
-
1Loss-
TFEC-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFPT-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TGDS-
-
-
-
5Amp-
TGFA-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR3-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
3Gain-
TGIF1-
-
-
-
1Loss-
TGIF2-
-
-
-
5Amp-
TGIF2-RAB5IF-
-
-
-
5Amp-
TGM2-
-
-
-
5Amp-
TGM3-
-
-
-
3Gain-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGM7-
-
-
-
1Loss-
TGOLN2-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THADA-
-
-
-
3Gain-
THAP1-
-
-
-
3Gain-
THAP10-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP4-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THBS1-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS2-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
3Gain-
THNSL2-
-
-
-
3Gain-
THOC1-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOC6-
-
-
-
3Gain-
THSD1-
-
-
-
5Amp-
THSD4-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THSD7B-
-
-
-
3Gain-
THUMPD2-
-
-
-
3Gain-
TIA1-
-
-
-
3Gain-
TIAF1-
-
-
-
3Gain-
TIAL1-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIGD7-
-
-
-
3Gain-
TIGIT-
-
-
-
3Gain-
TIMD4-
-
-
-
1Loss-
TIMELESS-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
3Gain-
TINAGL1-
-
-
-
1Loss-
TIPARP-
-
-
-
1Loss-
TIPIN-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TJP2-
-
-
-
3Gain-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
0Del-
TLCD1-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
5Amp-
TLE1-
-
-
-
3Gain-
TLE3-
-
-
-
1Loss-
TLE4-
-
-
-
3Gain-
TLK1-
-
-
-
3Gain-
TLL1-
-
-
-
0Del-
TLL2-
-
-
-
1Loss-
TLN1-
-
-
-
3Gain-
TLN2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
0Del-
TLR5-
-
-
-
3Gain-
TLR6-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX2-
-
-
-
3Gain-
TLX3-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM2D3-
-
-
-
1Loss-
TM4SF18-
-
-
-
1Loss-
TM4SF20-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TM9SF2-
-
-
-
5Amp-
TM9SF3-
-
-
-
1Loss-
TM9SF4-
-
-
-
5Amp-
TMA16-
-
-
-
0Del-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
3Gain-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMC1-
-
-
-
3Gain-
TMC2-
-
-
-
3Gain-
TMC3-
-
-
-
1Loss-
TMC4-
-
-
-
3Gain-
TMCC1-
-
-
-
1Loss-
TMCC3-
-
-
-
1Loss-
TMCO3-
-
-
-
5Amp-
TMCO4-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEFF2-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM127-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM131-
-
-
-
3Gain-
TMEM131L-
-
-
-
1Loss-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132D-
-
-
-
1Loss-
TMEM132E-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM143-
-
-
-
3Gain-
TMEM144-
-
-
-
1Loss-
TMEM150A-
-
-
-
3Gain-
TMEM150B-
-
-
-
3Gain-
TMEM154-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM160-
-
-
-
3Gain-
TMEM161B-
-
-
-
1Loss-
TMEM163-
-
-
-
3Gain-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM168p.L354F
Missense
SNP
0.462
3Gain-
TMEM169-
-
-
-
3Gain-
TMEM17-
-
-
-
3Gain-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM177-
-
-
-
3Gain-
TMEM178A-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM182-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
1Loss-
TMEM184C-
-
-
-
1Loss-
TMEM185B-
-
-
-
3Gain-
TMEM189-
-
-
-
5Amp-
TMEM189-UBE2V1-
-
-
-
5Amp-
TMEM19-
-
-
-
1Loss-
TMEM190-
-
-
-
3Gain-
TMEM191C-
-
-
-
1Loss-
TMEM192-
-
-
-
0Del-
TMEM196-
-
-
-
3Gain-
TMEM198-
-
-
-
3Gain-
TMEM199-
-
-
-
3Gain-
TMEM200B-
-
-
-
0Del-
TMEM200C-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM204-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM213-
-
-
-
3Gain-
TMEM215-
-
-
-
3Gain-
TMEM220-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM230-
-
-
-
3Gain-
TMEM232-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM234-
-
-
-
1Loss-
TMEM236-
-
-
-
3Gain-
TMEM237-
-
-
-
3Gain-
TMEM238-
-
-
-
3Gain-
TMEM239-
-
-
-
3Gain-
TMEM241-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM247-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM252-
-
-
-
3Gain-
TMEM254-
-
-
-
1Loss-
TMEM255B-
-
-
-
5Amp-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM263-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM272-
-
-
-
5Amp-
TMEM33-
-
-
-
1Loss-
TMEM35B-
-
-
-
1Loss-
TMEM37-
-
-
-
3Gain-
TMEM38B-
-
-
-
3Gain-
TMEM39A-
-
-
-
3Gain-
TMEM39B-
-
-
-
1Loss-
TMEM40-
-
-
-
3Gain-
TMEM43-
-
-
-
3Gain-
TMEM50A-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52B-
-
-
-
1Loss-
TMEM54-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM74B-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM86B-
-
-
-
3Gain-
TMEM87A-
-
-
-
1Loss-
TMEM87B-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8A-
-
-
-
3Gain-
TMEM8B-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
3Gain-
TMEM98-
-
-
-
3Gain-
TMIGD1-
-
-
-
3Gain-
TMIGD3-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPO-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS4p.S303P
Missense
SNP
0.359
2--
TMPRSS6-
-
-
-
1Loss-
TMSB10-
-
-
-
3Gain-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMTC4-
-
-
-
5Amp-
TMUB1-
-
-
-
3Gain-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNFAIP1-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP6-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF19-
-
-
-
5Amp-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
5Amp-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF11-
-
-
-
5Amp-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
4Gain-
TNIP1-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
3Gain-
TNKS2-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
5Amp-
TNNI3-
-
-
-
3Gain-
TNNI3K-
-
-
-
1Loss-
TNNT1-
-
-
-
3Gain-
TNP1-
-
-
-
3Gain-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TNS1-
-
-
-
3Gain-
TNS2-
-
-
-
1Loss-
TNS3-
-
-
-
3Gain-
TOB2-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
5Amp-
TOMM40-
-
-
-
3Gain-
TOMM5-
-
-
-
3Gain-
TOP1-
-
-
-
5Amp-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPBP1-
-
-
-
1Loss-
TOPORS-
-
-
-
3Gain-
TOR1A-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
5Amp-
TP53p.P152L
p.K120R
Missense
Missense
SNP
SNP
1.000
0.492
1Loss-
TP53BP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53I13-
-
-
-
3Gain-
TP53INP2-
-
-
-
5Amp-
TP53RK-
-
-
-
5Amp-
TP53TG5p.M196I
Missense
SNP
0.173
5Amp-
TP63-
-
-
-
1Loss-
TPCN1-
-
-
-
1Loss-
TPD52L2-
-
-
-
5Amp-
TPD52L3-
-
-
-
3Gain-
TPGS1p.A279Rfs*?
Frame_Shift_Ins
INS
0.261
2--
TPGS2-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM1-
-
-
-
1Loss-
TPM2-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPP2-
-
-
-
5Amp-
TPPP-
-
-
-
3Gain-
TPRA1-
-
-
-
1Loss-
TPRG1-
-
-
-
1Loss-
TPRKB-
-
-
-
3Gain-
TPRX1-
-
-
-
3Gain-
TPSAB1-
-
-
-
3Gain-
TPSB2-
-
-
-
3Gain-
TPSD1-
-
-
-
3Gain-
TPSG1-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
5Amp-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
5Amp-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TPX2-
-
-
-
5Amp-
TRA2A-
-
-
-
3Gain-
TRABD2A-
-
-
-
3Gain-
TRAF1-
-
-
-
3Gain-
TRAF3-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
3Gain-
TRAF4-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAF6-
-
-
-
1Loss-
TRAF7-
-
-
-
3Gain-
TRAFD1-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
3Gain-
TRAK2-
-
-
-
3Gain-
TRANK1-
-
-
-
1Loss-
TRAP1-
-
-
-
3Gain-
TRAPPC1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
0Del-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
3Gain-
TRAPPC3-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
3Gain-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRDMT1-
-
-
-
3Gain-
TREX1-
-
-
-
1Loss-
TRH-
-
-
-
1Loss-
TRHDE-
-
-
-
1Loss-
TRIAP1-
-
-
-
1Loss-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
5Amp-
TRIM14-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM2-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM28p.K804T
Missense
SNP
0.205
3Gain-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
3Gain-
TRIM36-
-
-
-
1Loss-
TRIM38p.R72*
Nonsense
SNP
0.360
2--
TRIM4-
-
-
-
3Gain-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
1Loss-
TRIM43-
-
-
-
3Gain-
TRIM43B-
-
-
-
3Gain-
TRIM45-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM49p.N298S
Missense
SNP
0.319
2--
TRIM50-
-
-
-
3Gain-
TRIM52-
-
-
-
1Loss-
TRIM56p.Q417K
Missense
SNP
0.469
3Gain-
TRIM58p.R84W
Missense
SNP
0.320
2--
TRIM59-
-
-
-
1Loss-
TRIM60-
-
-
-
0Del-
TRIM61-
-
-
-
0Del-
TRIM62-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM75P-
-
-
-
0Del-
TRIM8-
-
-
-
1Loss-
TRIML1-
-
-
-
0Del-
TRIML2-
-
-
-
0Del-
TRIO-
-
-
-
3Gain-
TRIOBP-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIP12-
-
-
-
3Gain-
TRIP13-
-
-
-
3Gain-
TRIP4-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRMO-
-
-
-
3Gain-
TRMT10B-
-
-
-
3Gain-
TRMT13-
-
-
-
1Loss-
TRMT2A-
-
-
-
1Loss-
TRMT6-
-
-
-
3Gain-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
3Gain-
TRMU-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TROAP-
-
-
-
1Loss-
TRPC1-
-
-
-
1Loss-
TRPC4-
-
-
-
5Amp-
TRPC4AP-
-
-
-
5Amp-
TRPC7-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM3-
-
-
-
3Gain-
TRPM4-
-
-
-
3Gain-
TRPM6-
-
-
-
3Gain-
TRPM7-
-
-
-
1Loss-
TRPM8p.K59E
Missense
SNP
0.294
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TRUB1-
-
-
-
1Loss-
TRUB2-
-
-
-
3Gain-
TSC2-
-
-
-
3Gain-
TSC22D1-
-
-
-
5Amp-
TSC22D4-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSEN34-
-
-
-
3Gain-
TSFM-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHB-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
5Amp-
TSKS-
-
-
-
3Gain-
TSLP-
-
-
-
1Loss-
TSNp.V156Tfs*3
Frame_Shift_Del
DEL
0.195
3Gain-
TSNARE1p.S448L
Missense
SNP
0.315
2--
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN17-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSPYL6-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSR3-
-
-
-
3Gain-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TSSK3-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTD2-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC16-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21B-
-
-
-
3Gain-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC30A-
-
-
-
3Gain-
TTC30B-
-
-
-
3Gain-
TTC31-
-
-
-
3Gain-
TTC33-
-
-
-
3Gain-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39B-
-
-
-
3Gain-
TTC39C-
-
-
-
1Loss-
TTC7A-
-
-
-
3Gain-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
5Amp-
TTI2-
-
-
-
3Gain-
TTKp.V416G
Missense
SNP
0.310
2--
TTL-
-
-
-
3Gain-
TTLL1-
-
-
-
1Loss-
TTLL11-
-
-
-
3Gain-
TTLL12-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL4-
-
-
-
3Gain-
TTLL7-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTLL9-
-
-
-
5Amp-
TTNp.L15208P
p.Y13954*
p.E1470Q
Missense
Nonsense
Missense
SNP
SNP
SNP
0.239
0.440
0.212
3Gain-
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
5Amp-
TTR-
-
-
-
1Loss-
TTYH1-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA3C-
-
-
-
5Amp-
TUBA4A-
-
-
-
3Gain-
TUBA4B-
-
-
-
3Gain-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
3Gain-
TUBB1-
-
-
-
5Amp-
TUBB6-
-
-
-
1Loss-
TUBB8-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUBGCP3-
-
-
-
4Gain-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP2-
-
-
-
3Gain-
TUSC1-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
3Gain-
TUT7-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWIST2-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXLNA-
-
-
-
1Loss-
TXN-
-
-
-
3Gain-
TXN2-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNDC9-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD1-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYMS-
-
-
-
1Loss-
TYRO3-
-
-
-
1Loss-
TYRP1-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
TYW5-
-
-
-
3Gain-
U2AF2-
-
-
-
3Gain-
U2SURP-
-
-
-
1Loss-
UACA-
-
-
-
1Loss-
UBA5-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
5Amp-
UBALD1-
-
-
-
3Gain-
UBAP1-
-
-
-
3Gain-
UBAP1L-
-
-
-
1Loss-
UBAP2-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBB-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
5Amp-
UBE2D1-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E3-
-
-
-
3Gain-
UBE2F-
-
-
-
3Gain-
UBE2F-SCLY-
-
-
-
3Gain-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2I-
-
-
-
3Gain-
UBE2K-
-
-
-
1Loss-
UBE2L3-
-
-
-
1Loss-
UBE2M-
-
-
-
3Gain-
UBE2N-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2QL1-
-
-
-
3Gain-
UBE2R2-
-
-
-
3Gain-
UBE2S-
-
-
-
3Gain-
UBE2V1-
-
-
-
5Amp-
UBE2V2-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3B-
-
-
-
1Loss-
UBE3C-
-
-
-
3Gain-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
5Amp-
UBL4B-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN1-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR3-
-
-
-
3Gain-
UBR4-
-
-
-
1Loss-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2B-
-
-
-
3Gain-
UBXN4-
-
-
-
3Gain-
UBXN8-
-
-
-
3Gain-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
5Amp-
UCKL1-
-
-
-
5Amp-
UCMA-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
3Gain-
UCP1-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFM1-
-
-
-
5Amp-
UFSP1-
-
-
-
3Gain-
UFSP2-
-
-
-
0Del-
UGCG-
-
-
-
3Gain-
UGDH-
-
-
-
1Loss-
UGGT1-
-
-
-
3Gain-
UGGT2-
-
-
-
5Amp-
UGP2-
-
-
-
3Gain-
UGT1A1-
-
-
-
3Gain-
UGT1A10-
-
-
-
3Gain-
UGT1A3-
-
-
-
3Gain-
UGT1A4-
-
-
-
3Gain-
UGT1A5-
-
-
-
3Gain-
UGT1A6-
-
-
-
3Gain-
UGT1A7-
-
-
-
3Gain-
UGT1A8-
-
-
-
3Gain-
UGT1A9-
-
-
-
3Gain-
UGT3A1-
-
-
-
3Gain-
UGT3A2p.K289T
Missense
SNP
0.272
3Gain-
UHRF1BP1L-
-
-
-
1Loss-
UHRF2-
-
-
-
3Gain-
UIMC1-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119-
-
-
-
3Gain-
UNC119B-
-
-
-
1Loss-
UNC13B-
-
-
-
3Gain-
UNC13C-
-
-
-
1Loss-
UNC45A-
-
-
-
1Loss-
UNC45B-
-
-
-
3Gain-
UNC50-
-
-
-
3Gain-
UNC5A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5Dp.R829*
Nonsense
SNP
0.252
3Gain-
UNC79-
-
-
-
1Loss-
UNC80p.Q1714R
Missense
SNP
0.303
3Gain-
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
1Loss-
UNKL-
-
-
-
3Gain-
UPB1-
-
-
-
1Loss-
UPF2-
-
-
-
3Gain-
UPF3A-
-
-
-
5Amp-
UPK1B-
-
-
-
3Gain-
UPK3A-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UPP2-
-
-
-
3Gain-
UQCC1-
-
-
-
5Amp-
UQCR10-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
5Amp-
URB1-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URM1-
-
-
-
3Gain-
UROC1-
-
-
-
1Loss-
UROS-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH2A-
-
-
-
3Gain-
USHBP1p.Q484Tfs*12
Frame_Shift_Del
DEL
0.277
2--
USP12-
-
-
-
5Amp-
USP14-
-
-
-
1Loss-
USP15-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP20-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP29-
-
-
-
3Gain-
USP3-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP33-
-
-
-
1Loss-
USP34-
-
-
-
3Gain-
USP37-
-
-
-
3Gain-
USP38-
-
-
-
1Loss-
USP39-
-
-
-
3Gain-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
3Gain-
USP41-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP48-
-
-
-
0Del-
USP5-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
3Gain-
USP8-
-
-
-
1Loss-
USPL1-
-
-
-
5Amp-
UTF1-
-
-
-
1Loss-
UTP14C-
-
-
-
5Amp-
UTP15-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP6-
-
-
-
3Gain-
UTS2-
-
-
-
1Loss-
UTS2B-
-
-
-
1Loss-
UXS1-
-
-
-
3Gain-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAMP5-
-
-
-
3Gain-
VAMP8-
-
-
-
3Gain-
VANGL1-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VAPB-
-
-
-
5Amp-
VASH2-
-
-
-
3Gain-
VASN-
-
-
-
3Gain-
VASP-
-
-
-
3Gain-
VAV3-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VAX2-
-
-
-
3Gain-
VCAM1-
-
-
-
1Loss-
VCANp.K1616N
Missense
SNP
0.418
1Loss-
VCL-
-
-
-
1Loss-
VCP-
-
-
-
3Gain-
VDAC1-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDAC3-
-
-
-
3Gain-
VDR-
-
-
-
1Loss-
VEGFC-
-
-
-
0Del-
VENTX-
-
-
-
1Loss-
VEPH1-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
3Gain-
VIL1-
-
-
-
3Gain-
VIM-
-
-
-
3Gain-
VIPR1-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
3Gain-
VMO1-
-
-
-
1Loss-
VN1R1-
-
-
-
3Gain-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13A-
-
-
-
3Gain-
VPS13C-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS26A-
-
-
-
1Loss-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS33B-
-
-
-
1Loss-
VPS36-
-
-
-
5Amp-
VPS37A-
-
-
-
3Gain-
VPS37B-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS50p.T697R
Missense
SNP
0.207
3Gain-
VPS53-
-
-
-
1Loss-
VPS54-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VRK1-
-
-
-
1Loss-
VRK2-
-
-
-
3Gain-
VRK3-
-
-
-
3Gain-
VSIG10-
-
-
-
1Loss-
VSIG10L-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM1-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2L-
-
-
-
5Amp-
VSX1-
-
-
-
3Gain-
VTCN1-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VTN-
-
-
-
3Gain-
VWA2-
-
-
-
1Loss-
VWA3B-
-
-
-
3Gain-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
5Amp-
VWC2-
-
-
-
3Gain-
VWC2L-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
5Amp-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP1-
-
-
-
3Gain-
WBP11-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WBP4-
-
-
-
5Amp-
WDFY1-
-
-
-
3Gain-
WDFY2-
-
-
-
5Amp-
WDPCP-
-
-
-
3Gain-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
3Gain-
WDR17-
-
-
-
0Del-
WDR19-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR24-
-
-
-
3Gain-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR33-
-
-
-
3Gain-
WDR34-
-
-
-
3Gain-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
3Gain-
WDR38-
-
-
-
3Gain-
WDR41-
-
-
-
1Loss-
WDR47-
-
-
-
1Loss-
WDR49-
-
-
-
1Loss-
WDR54-
-
-
-
3Gain-
WDR55-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR63-
-
-
-
1Loss-
WDR66-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR75-
-
-
-
3Gain-
WDR76-
-
-
-
1Loss-
WDR77-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR86p.V100M
Missense
SNP
0.506
3Gain-
WDR90-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WDR92-
-
-
-
3Gain-
WDR93-
-
-
-
1Loss-
WDSUB1-
-
-
-
3Gain-
WDTC1-
-
-
-
1Loss-
WEE2-
-
-
-
3Gain-
WFDC10A-
-
-
-
5Amp-
WFDC10B-
-
-
-
5Amp-
WFDC11-
-
-
-
5Amp-
WFDC12-
-
-
-
5Amp-
WFDC13-
-
-
-
5Amp-
WFDC2-
-
-
-
5Amp-
WFDC3-
-
-
-
5Amp-
WFDC5-
-
-
-
5Amp-
WFDC6-
-
-
-
5Amp-
WFDC8-
-
-
-
5Amp-
WFDC9-
-
-
-
5Amp-
WFIKKN1-
-
-
-
3Gain-
WHAMM-
-
-
-
1Loss-
WIF1-
-
-
-
1Loss-
WIPF1-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP2-
-
-
-
5Amp-
WNK2-
-
-
-
3Gain-
WNT1-
-
-
-
1Loss-
WNT10A-
-
-
-
3Gain-
WNT10B-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT2B-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
0Del-
WNT5A-
-
-
-
1Loss-
WNT6-
-
-
-
3Gain-
WNT7A-
-
-
-
3Gain-
WNT7B-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRN-
-
-
-
3Gain-
WSB1-
-
-
-
3Gain-
WSB2-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
0Del-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XIRP2-
-
-
-
3Gain-
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR7-
-
-
-
5Amp-
XKR8-
-
-
-
0Del-
XPA-
-
-
-
3Gain-
XPC-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPO1-
-
-
-
3Gain-
XPO4-
-
-
-
5Amp-
XPO7-
-
-
-
3Gain-
XPOT-
-
-
-
1Loss-
XRCC1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC5-
-
-
-
3Gain-
XRCC6-
-
-
-
1Loss-
XRN1-
-
-
-
1Loss-
XRN2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YAF2-
-
-
-
1Loss-
YARS-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YES1-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YME1L1-
-
-
-
3Gain-
YPEL1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF1-
-
-
-
5Amp-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
5Amp-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
Z98752.3-
-
-
-
5Amp-
ZADH2-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZAP70-
-
-
-
3Gain-
ZAR1-
-
-
-
1Loss-
ZAR1L-
-
-
-
5Amp-
ZBBX-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBP1-
-
-
-
5Amp-
ZBTB14-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB20-
-
-
-
3Gain-
ZBTB26-
-
-
-
3Gain-
ZBTB34-
-
-
-
3Gain-
ZBTB38-
-
-
-
1Loss-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
0Del-
ZBTB42-
-
-
-
1Loss-
ZBTB43-
-
-
-
3Gain-
ZBTB45-
-
-
-
3Gain-
ZBTB46-
-
-
-
5Amp-
ZBTB47p.K510T
Missense
SNP
0.240
3Gain-
ZBTB48-
-
-
-
1Loss-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
3Gain-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
1Loss-
ZBTB8B-
-
-
-
1Loss-
ZBTB8OS-
-
-
-
1Loss-
ZC3H10-
-
-
-
1Loss-
ZC3H13-
-
-
-
5Amp-
ZC3H14-
-
-
-
1Loss-
ZC3H15-
-
-
-
3Gain-
ZC3H4-
-
-
-
3Gain-
ZC3H6-
-
-
-
3Gain-
ZC3H7B-
-
-
-
1Loss-
ZC3H8-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC4-
-
-
-
1Loss-
ZCCHC7-
-
-
-
3Gain-
ZCCHC8-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZDBF2-
-
-
-
3Gain-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC12-
-
-
-
3Gain-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZDHHC2-
-
-
-
3Gain-
ZDHHC20-
-
-
-
5Amp-
ZDHHC21-
-
-
-
3Gain-
ZDHHC23-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZDHHC6-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZEB2-
-
-
-
3Gain-
ZER1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND2B-
-
-
-
3Gain-
ZFAND5-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFC3H1-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP28-
-
-
-
3Gain-
ZFP3-
-
-
-
1Loss-
ZFP36L2-
-
-
-
3Gain-
ZFP37-
-
-
-
3Gain-
ZFP42-
-
-
-
0Del-
ZFP62-
-
-
-
1Loss-
ZFP64-
-
-
-
5Amp-
ZFR-
-
-
-
3Gain-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZG16B-
-
-
-
3Gain-
ZGPAT-
-
-
-
5Amp-
ZHX3-
-
-
-
5Amp-
ZIC1-
-
-
-
1Loss-
ZIC2-
-
-
-
5Amp-
ZIC4-
-
-
-
1Loss-
ZIC5-
-
-
-
5Amp-
ZIK1-
-
-
-
3Gain-
ZIM2-
-
-
-
3Gain-
ZIM3-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT4-
-
-
-
3Gain-
ZMAT5-
-
-
-
1Loss-
ZMIZ1-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMYM1-
-
-
-
1Loss-
ZMYM2-
-
-
-
5Amp-
ZMYM4-
-
-
-
1Loss-
ZMYM5-
-
-
-
5Amp-
ZMYM6-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
5Amp-
ZNF10-
-
-
-
0Del-
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF112-
-
-
-
3Gain-
ZNF114-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF132-
-
-
-
3Gain-
ZNF133-
-
-
-
3Gain-
ZNF134-
-
-
-
3Gain-
ZNF135-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF140-
-
-
-
0Del-
ZNF142-
-
-
-
3Gain-
ZNF154-
-
-
-
3Gain-
ZNF155-
-
-
-
3Gain-
ZNF160-
-
-
-
3Gain-
ZNF169-
-
-
-
3Gain-
ZNF17-
-
-
-
3Gain-
ZNF174-
-
-
-
3Gain-
ZNF175-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF180-
-
-
-
3Gain-
ZNF189-
-
-
-
3Gain-
ZNF2-
-
-
-
3Gain-
ZNF200-
-
-
-
3Gain-
ZNF205-
-
-
-
3Gain-
ZNF207-
-
-
-
3Gain-
ZNF211-
-
-
-
3Gain-
ZNF212-
-
-
-
3Gain-
ZNF213-
-
-
-
3Gain-
ZNF217-
-
-
-
5Amp-
ZNF221-
-
-
-
3Gain-
ZNF222-
-
-
-
3Gain-
ZNF223-
-
-
-
3Gain-
ZNF224-
-
-
-
3Gain-
ZNF225-
-
-
-
3Gain-
ZNF226-
-
-
-
3Gain-
ZNF227-
-
-
-
3Gain-
ZNF229-
-
-
-
3Gain-
ZNF230-
-
-
-
3Gain-
ZNF232-
-
-
-
1Loss-
ZNF233-
-
-
-
3Gain-
ZNF234-
-
-
-
3Gain-
ZNF235-
-
-
-
3Gain-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF256-
-
-
-
3Gain-
ZNF26-
-
-
-
0Del-
ZNF263-
-
-
-
3Gain-
ZNF264-
-
-
-
3Gain-
ZNF268-
-
-
-
0Del-
ZNF273-
-
-
-
3Gain-
ZNF274-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF28-
-
-
-
3Gain-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF280D-
-
-
-
1Loss-
ZNF282-
-
-
-
3Gain-
ZNF283-
-
-
-
3Gain-
ZNF284-
-
-
-
3Gain-
ZNF285p.Y474F
p.N161K
Missense
Missense
SNP
SNP
0.250
0.247
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF296-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF304-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF320-
-
-
-
3Gain-
ZNF324-
-
-
-
3Gain-
ZNF324B-
-
-
-
3Gain-
ZNF326-
-
-
-
1Loss-
ZNF329-
-
-
-
3Gain-
ZNF330-
-
-
-
1Loss-
ZNF331-
-
-
-
3Gain-
ZNF334-
-
-
-
5Amp-
ZNF335-
-
-
-
5Amp-
ZNF337-
-
-
-
3Gain-
ZNF341-
-
-
-
5Amp-
ZNF343-
-
-
-
3Gain-
ZNF346-
-
-
-
1Loss-
ZNF347-
-
-
-
3Gain-
ZNF350-
-
-
-
3Gain-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF362-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF382p.K160T
Missense
SNP
0.327
2--
ZNF384-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF385B-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF395p.K281N
Missense
SNP
0.195
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF404-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF415-
-
-
-
3Gain-
ZNF416-
-
-
-
3Gain-
ZNF417-
-
-
-
3Gain-
ZNF418-
-
-
-
3Gain-
ZNF419-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF428-
-
-
-
3Gain-
ZNF432-
-
-
-
3Gain-
ZNF436-
-
-
-
1Loss-
ZNF444-
-
-
-
3Gain-
ZNF446-
-
-
-
3Gain-
ZNF45-
-
-
-
3Gain-
ZNF454-
-
-
-
1Loss-
ZNF460-
-
-
-
3Gain-
ZNF462-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF468-
-
-
-
3Gain-
ZNF470-
-
-
-
3Gain-
ZNF471-
-
-
-
3Gain-
ZNF473-
-
-
-
3Gain-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF480-
-
-
-
3Gain-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF497-
-
-
-
3Gain-
ZNF500-
-
-
-
3Gain-
ZNF503-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512B-
-
-
-
5Amp-
ZNF514-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF518A-
-
-
-
1Loss-
ZNF519-
-
-
-
1Loss-
ZNF521-
-
-
-
1Loss-
ZNF524-
-
-
-
3Gain-
ZNF525-
-
-
-
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF530-
-
-
-
3Gain-
ZNF532-
-
-
-
1Loss-
ZNF534-
-
-
-
3Gain-
ZNF536p.K174M
Missense
SNP
0.326
2--
ZNF541p.S79Y
Missense
SNP
0.234
3Gain-
ZNF543-
-
-
-
3Gain-
ZNF544-
-
-
-
3Gain-
ZNF547-
-
-
-
3Gain-
ZNF548-
-
-
-
3Gain-
ZNF549-
-
-
-
3Gain-
ZNF550-
-
-
-
3Gain-
ZNF551-
-
-
-
3Gain-
ZNF552-
-
-
-
3Gain-
ZNF568p.E521G
Missense
SNP
0.349
2--
ZNF575-
-
-
-
3Gain-
ZNF576-
-
-
-
3Gain-
ZNF577-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF579-
-
-
-
3Gain-
ZNF580-
-
-
-
3Gain-
ZNF581-
-
-
-
3Gain-
ZNF582-
-
-
-
3Gain-
ZNF583-
-
-
-
3Gain-
ZNF584-
-
-
-
3Gain-
ZNF586-
-
-
-
3Gain-
ZNF587-
-
-
-
3Gain-
ZNF587B-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF596-
-
-
-
3Gain-
ZNF597-
-
-
-
3Gain-
ZNF598-
-
-
-
3Gain-
ZNF600-
-
-
-
3Gain-
ZNF605-
-
-
-
0Del-
ZNF606-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF609p.R570*
Nonsense
SNP
0.481
1Loss-
ZNF610-
-
-
-
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF613-
-
-
-
3Gain-
ZNF614-
-
-
-
3Gain-
ZNF615-
-
-
-
3Gain-
ZNF616-
-
-
-
3Gain-
ZNF618-
-
-
-
3Gain-
ZNF619-
-
-
-
3Gain-
ZNF620-
-
-
-
3Gain-
ZNF621-
-
-
-
3Gain-
ZNF622-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF628-
-
-
-
3Gain-
ZNF638-
-
-
-
3Gain-
ZNF641-
-
-
-
1Loss-
ZNF644-
-
-
-
1Loss-
ZNF649-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF655-
-
-
-
3Gain-
ZNF658-
-
-
-
3Gain-
ZNF662-
-
-
-
3Gain-
ZNF664-
-
-
-
1Loss-
ZNF665-
-
-
-
3Gain-
ZNF667-
-
-
-
3Gain-
ZNF671-
-
-
-
3Gain-
ZNF677-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF683-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF697-
-
-
-
1Loss-
ZNF70-
-
-
-
1Loss-
ZNF701-
-
-
-
3Gain-
ZNF703-
-
-
-
3Gain-
ZNF71-
-
-
-
3Gain-
ZNF710-
-
-
-
1Loss-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74-
-
-
-
1Loss-
ZNF740-
-
-
-
1Loss-
ZNF746-
-
-
-
3Gain-
ZNF749-
-
-
-
3Gain-
ZNF75A-
-
-
-
3Gain-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF766-
-
-
-
3Gain-
ZNF770-
-
-
-
1Loss-
ZNF772-
-
-
-
3Gain-
ZNF773-
-
-
-
3Gain-
ZNF774-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF782-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF784-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF787-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF79-
-
-
-
3Gain-
ZNF8-
-
-
-
3Gain-
ZNF80-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804A-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF805-
-
-
-
3Gain-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF814-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF827-
-
-
-
1Loss-
ZNF83-
-
-
-
3Gain-
ZNF830-
-
-
-
3Gain-
ZNF831-
-
-
-
5Amp-
ZNF835-
-
-
-
3Gain-
ZNF836-
-
-
-
3Gain-
ZNF837-
-
-
-
3Gain-
ZNF839-
-
-
-
1Loss-
ZNF84-
-
-
-
0Del-
ZNF841-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF865-
-
-
-
3Gain-
ZNF879-
-
-
-
1Loss-
ZNF880-
-
-
-
3Gain-
ZNF883-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF891-
-
-
-
0Del-
ZNF92-
-
-
-
3Gain-
ZNFX1-
-
-
-
5Amp-
ZNHIT1-
-
-
-
3Gain-
ZNHIT3-
-
-
-
3Gain-
ZNHIT6-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
1Loss-
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZRANB3-
-
-
-
3Gain-
ZSCAN1-
-
-
-
3Gain-
ZSCAN10-
-
-
-
3Gain-
ZSCAN18-
-
-
-
3Gain-
ZSCAN2-
-
-
-
1Loss-
ZSCAN20-
-
-
-
1Loss-
ZSCAN21-
-
-
-
3Gain-
ZSCAN22-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSCAN32-
-
-
-
3Gain-
ZSCAN4-
-
-
-
3Gain-
ZSCAN5A-
-
-
-
3Gain-
ZSCAN5B-
-
-
-
3Gain-
ZSCAN5C-
-
-
-
3Gain-
ZSWIM1-
-
-
-
5Amp-
ZSWIM2-
-
-
-
3Gain-
ZSWIM3-
-
-
-
5Amp-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZSWIM9-
-
-
-
3Gain-
ZWILCH-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-
ZYX-
-
-
-
3Gain-
ZZEF1-
-
-
-
1Loss-