PDMR-746538~026-R~YR7XR3-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
AAAS-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AADAT-
-
-
-
1Loss-
AAGAB-
-
-
-
1Loss-
AAR2-
-
-
-
3Gain-
AASS-
-
-
-
1Loss-
ABCA1-
-
-
-
3Gain-
ABCA13p.F2237V
Missense
SNP
0.596
1Loss-
ABCA2-
-
-
-
1Loss-
ABCA4-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB1-
-
-
-
1Loss-
ABCB4-
-
-
-
1Loss-
ABCB5-
-
-
-
3Gain-
ABCB9-
-
-
-
1Loss-
ABCC4-
-
-
-
5Amp-
ABCC8-
-
-
-
1Loss-
ABCC9-
-
-
-
1Loss-
ABCD2-
-
-
-
1Loss-
ABCD3-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABHD11-
-
-
-
1Loss-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
6Amp-
ABHD16B-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABI3BP-
-
-
-
1Loss-
ABL1-
-
-
-
1Loss-
ABL2-
-
-
-
1Loss-
ABO-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
AC000120.2-
-
-
-
1Loss-
AC000120.3-
-
-
-
1Loss-
AC001226.2-
-
-
-
5Amp-
AC002985.1-
-
-
-
1Loss-
AC002996.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
1Loss-
AC004593.3-
-
-
-
1Loss-
AC004691.2-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004922.1-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005020.2-
-
-
-
1Loss-
AC005154.5-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007326.4-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008740.1-
-
-
-
NDNDAC008740.1--CRYM-AS1
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008802.1-
-
-
-
NDNDAC008802.1--AL353691.2
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
1Loss-
AC010197.2-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC022335.1-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC023424.1-
-
-
-
NDNDAC023424.1--AL591846.1
AC023509.3-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC048338.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068533.4-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068775.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC069368.1-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092647.5-
-
-
-
1Loss-
AC093668.1-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC107871.1-
-
-
-
1Loss-
AC115220.1-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC118470.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC245033.1-
-
-
-
1LossNSMCE3--AC245033.1
AC245033.4-
-
-
-
NDNDNSMCE3--AC245033.4
AC253536.7-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP3-
-
-
-
3Gain-
ACBD6-
-
-
-
1Loss-
ACEp.L247I
Missense
SNP
0.166
2--
ACER1-
-
-
-
1Loss-
ACHE-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR1p.W256*
Nonsense
SNP
0.444
2--
ACO2-
-
-
-
1Loss-
ACOD1-
-
-
-
5Amp-
ACOT1-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
3Gain-
ACP5-
-
-
-
1Loss-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTC1-
-
-
-
0Del-
ACTL10-
-
-
-
3Gain-
ACTL6B-
-
-
-
1Loss-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN1-
-
-
-
1Loss-
ACTN2-
-
-
-
1Loss-
ACTR5-
-
-
-
3Gain-
ACTR6-
-
-
-
1Loss-
ACTRT2-
-
-
-
3Gain-
ACVR1B-
-
-
-
1Loss-
ACVRL1-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADA2-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM2p.S528R
Missense
SNP
0.296
2--
ADAM22-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAM30-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS13-
-
-
-
1Loss-
ADAMTS17-
-
-
-
1Loss-
ADAMTS20-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAT3-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCY1-
-
-
-
1Loss-
ADCY4-
-
-
-
1Loss-
ADCY6-
-
-
-
1Loss-
ADCYAP1-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
1Loss-
ADGRB1p.R862H
Missense
SNP
0.506
2--
ADGRB2-
-
-
-
3Gain-
ADGRD1-
-
-
-
1Loss-
ADGRD2-
-
-
-
3Gain-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRG7-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIG-
-
-
-
3Gain-
ADIPOR2-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADPRHL1-
-
-
-
6Amp-
ADPRM-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSL-
-
-
-
1Loss-
ADSS-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
AEBP1-
-
-
-
1Loss-
AEBP2-
-
-
-
1Loss-
AEN-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGBL1-
-
-
-
1Loss-
AGFG2-
-
-
-
1Loss-
AGL-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGPAT2-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGTRAP-
-
-
-
1Loss-
AHCTF1-
-
-
-
1Loss-
AHCY-
-
-
-
3Gain-
AHCYL1-
-
-
-
1Loss-
AHCYL2-
-
-
-
1Loss-
AHDC1-
-
-
-
3Gain-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHSA1-
-
-
-
1Loss-
AICDA-
-
-
-
1Loss-
AIF1L-
-
-
-
1Loss-
AIFM3-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AJM1-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK1-
-
-
-
1Loss-
AK8-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
5Amp-
AKAP13-
-
-
-
1Loss-
AKAP2-
-
-
-
3Gain-
AKAP3-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKAP9-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKNA-
-
-
-
3Gain-
AKNAD1-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AKT3-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL121594.1-
-
-
-
1Loss-
AL121753.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL132780.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL157935.2-
-
-
-
1Loss-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162377.3-
-
-
-
5Amp-
AL162417.1-
-
-
-
1Loss-
AL353691.2-
-
-
-
NDNDAC008802.1--AL353691.2
AL355987.1-
-
-
-
1Loss-
AL355987.3-
-
-
-
1Loss-
AL356488.2-
-
-
-
NDNDHIST1H4H--AL356488.2
AL358113.1-
-
-
-
3Gain-
AL359736.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
6Amp-
AL445989.1-
-
-
-
6Amp-
AL449266.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
5Amp-
AL591846.1-
-
-
-
NDNDAC023424.1--AL591846.1
AL592490.1-
-
-
-
4Gain-
AL603832.3-
-
-
-
1Loss-
AL672142.1-
-
-
-
1Loss-
AL807752.6-
-
-
-
1Loss-
AL807752.7-
-
-
-
1Loss-
AL928654.3-
-
-
-
1Loss-
AL929554.1-
-
-
-
1Loss-
ALAD-
-
-
-
3Gain-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDOB-
-
-
-
3Gain-
ALG10-
-
-
-
1Loss-
ALG10B-
-
-
-
1Loss-
ALG11-
-
-
-
5Amp-
ALG12-
-
-
-
1Loss-
ALG14-
-
-
-
1Loss-
ALG2-
-
-
-
3Gain-
ALG5-
-
-
-
5Amp-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
1Loss-
ALKBH4-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALMS1p.P1056S
Missense
SNP
0.451
2--
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5AP-
-
-
-
3Gain-
ALOXE3-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
AMBP-
-
-
-
3Gain-
AMDHD1-
-
-
-
1Loss-
AMER2-
-
-
-
3Gain-
AMH-
-
-
-
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC2-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPTL1-
-
-
-
1Loss-
ANGPTL2-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL7-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANHX-
-
-
-
1Loss-
ANK2-
-
-
-
1Loss-
ANKDD1A-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKIB1-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKLE2-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRD10-
-
-
-
6Amp-
ANKRD12-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD52-
-
-
-
1Loss-
ANKRD54-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKRD65-
-
-
-
3Gain-
ANKRD7-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKS6-
-
-
-
3Gain-
ANLN-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
1Loss-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
1Loss-
ANPEP-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA1-
-
-
-
3Gain-
ANXA10-
-
-
-
1Loss-
ANXA2-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOAH-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP1S1-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP3B1p.E275K
Missense
SNP
0.568
2--
AP3B2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4M1-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBA1-
-
-
-
3Gain-
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APEX1p.E217Q
Missense
SNP
0.595
2--
APH1B-
-
-
-
1Loss-
APOBEC1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBEC4-
-
-
-
1Loss-
APOD-
-
-
-
1Loss-
APOF-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APPL2-
-
-
-
1Loss-
AQP1-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARF5-
-
-
-
1Loss-
ARF6-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP3-
-
-
-
1Loss-
ARFGEF2-
-
-
-
3Gain-
ARFIP1-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
1Loss-
ARGLU1-
-
-
-
6Amp-
ARHGAP10-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP40-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF25-
-
-
-
1Loss-
ARHGEF28p.X1650_splice
Splice_Site
SNP
0.225
2--
ARHGEF38-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF7-
-
-
-
6Amp-
ARID1A-
-
-
-
3Gain-
ARID2-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID4B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL11-
-
-
-
5Amp-
ARL4A-
-
-
-
3Gain-
ARL6IP4-
-
-
-
1Loss-
ARMC10-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARNT2-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARNTL2-
-
-
-
1Loss-
ARPC1A-
-
-
-
1Loss-
ARPC1B-
-
-
-
1Loss-
ARPC3-
-
-
-
1Loss-
ARPC5-
-
-
-
1Loss-
ARPC5L-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARRB1p.P131L
Missense
SNP
0.172
2--
ARRB2-
-
-
-
1Loss-
ARRDC1-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
ASAP3-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASB2-
-
-
-
1Loss-
ASB4-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASB6-
-
-
-
1Loss-
ASB7-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASIC1-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASL-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASNS-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASPM-
-
-
-
1Loss-
ASPN-
-
-
-
3Gain-
ASS1-
-
-
-
1Loss-
ASTN1-
-
-
-
1Loss-
ASTN2-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
1Loss-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF4-
-
-
-
1Loss-
ATF7-
-
-
-
1Loss-
ATF7IP-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATL1-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP11A-
-
-
-
6Amp-
ATP11Cp.D637G
Missense
SNP
0.505
NDND-
ATP12A-
-
-
-
3Gain-
ATP13A1-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP1A1-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP4B-
-
-
-
6Amp-
ATP5F1A-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
3Gain-
ATP5MC2-
-
-
-
1Loss-
ATP5MF-
-
-
-
1Loss-
ATP5MF-PTCD1-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
1Loss-
ATP7B-
-
-
-
5Amp-
ATP8A2-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
ATXN8OS-
-
-
-
NDNDATXN8OS--RPL14
AUH-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AUTS2-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVL9-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXDND1-
-
-
-
1Loss-
AZGP1-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALNT2-
-
-
-
1Loss-
B3GALT2-
-
-
-
1Loss-
B3GALT6-
-
-
-
3Gain-
B3GLCT-
-
-
-
3Gain-
B3GNT3-
-
-
-
1Loss-
B3GNT4-
-
-
-
1Loss-
B4GALNT1-
-
-
-
1Loss-
B4GALNT3-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT5-
-
-
-
3Gain-
B4GALT6-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BAAT-
-
-
-
3Gain-
BABAM1-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BARHL1-
-
-
-
1Loss-
BARHL2-
-
-
-
1Loss-
BARX1-
-
-
-
3Gain-
BAZ1B-
-
-
-
1Loss-
BAZ2A-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
1Loss-
BCAP29-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS2-
-
-
-
1Loss-
BCAS4-
-
-
-
3Gain-
BCAT1-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L10-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL2L14-
-
-
-
0DelETV6--BCL2L14
BCL2L15-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
1Loss-
BCL7B-
-
-
-
1Loss-
BCR-
-
-
-
1Loss-
BDH1p.S292F
Missense
SNP
0.467
2--
BDH2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND5p.T278M
Missense
SNP
0.275
2--
BEST1-
-
-
-
2-BEST1--FP236383.2
BEST2-
-
-
-
1Loss-
BEST3-
-
-
-
1Loss-
BET1-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BHLHA15-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE23-
-
-
-
3Gain-
BHLHE41-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BICDL1-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN2-
-
-
-
1Loss-
BIRC7-
-
-
-
3Gain-
BIVM-
-
-
-
5Amp-
BIVM-ERCC5-
-
-
-
5Amp-
BLCAP-
-
-
-
3Gain-
BLM-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMPER-
-
-
-
1Loss-
BMPR1B-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BORA-
-
-
-
5Amp-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
1Loss-
BRAP-
-
-
-
1Loss-
BRAT1-
-
-
-
3Gain-
BRCA2-
-
-
-
3Gain-
BRD1-
-
-
-
1Loss-
BRD3-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRDT-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRI3-
-
-
-
1Loss-
BRI3BP-
-
-
-
1Loss-
BRINP1-
-
-
-
3Gain-
BRINP2-
-
-
-
1Loss-
BRINP3-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BSDC1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BST2-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD8-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUD23-
-
-
-
1Loss-
BUD31-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf4-
-
-
-
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-
C14orf119-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
1Loss-
C1orf127-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf194-
-
-
-
1Loss-
C1orf21-
-
-
-
1Loss-
C1orf53-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL4-
-
-
-
1Loss-
C1QTNF12-
-
-
-
3Gain-
C1QTNF6-
-
-
-
1Loss-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD5-
-
-
-
1Loss-
C3-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf17-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5-
-
-
-
3Gain-
C7orf25-
-
-
-
1Loss-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
1Loss-
C7orf43-
-
-
-
1Loss-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
1Loss-
C7orf61-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C8G-
-
-
-
1Loss-
C9orf116-
-
-
-
1Loss-
C9orf129-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
1Loss-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
1Loss-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf78-
-
-
-
1Loss-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CA5Bp.D137N
Missense
SNP
0.430
NDND-
CA6-
-
-
-
1Loss-
CAB39L-
-
-
-
5Amp-
CABIN1-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP1-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CABYR-
-
-
-
0Del-
CACFD1-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1B-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA1E-
-
-
-
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNA2D4-
-
-
-
1Loss-
CACNB3-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACYBP-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
1Loss-
CALCRp.Q449*
Nonsense
SNP
0.709
1Loss-
CALML4-
-
-
-
1Loss-
CALML6-
-
-
-
3Gain-
CALN1-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CALU-
-
-
-
1Loss-
CAMK2B-
-
-
-
1Loss-
CAMK2D-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMSAP1-
-
-
-
1Loss-
CAMSAP2-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAPN3-
-
-
-
1Loss-
CAPRIN2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPZA1-
-
-
-
1Loss-
CAPZA2-
-
-
-
1Loss-
CAPZA3-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARD11p.S952R
Missense
SNP
0.140
3Gain-
CARD19-
-
-
-
3Gain-
CARD9-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNMT1-
-
-
-
3Gain-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
6Amp-
CASC1-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASD1-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ2-
-
-
-
1Loss-
CASS4-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CASTOR2-
-
-
-
1Loss-
CASTOR3-
-
-
-
1Loss-
CASZ1-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
1Loss-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBLL1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR4-
-
-
-
1Loss-
CBX3-
-
-
-
1Loss-
CBX5-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC122-
-
-
-
5Amp-
CCDC124-
-
-
-
1Loss-
CCDC126-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC136-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC146-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC168-
-
-
-
5Amp-
CCDC169-
-
-
-
5Amp-
CCDC169-SOHLH2-
-
-
-
5Amp-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC183-
-
-
-
1Loss-
CCDC184-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC194-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC28B-
-
-
-
3Gain-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC70-
-
-
-
5Amp-
CCDC71L-
-
-
-
1Loss-
CCDC77-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC91-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL24-
-
-
-
1Loss-
CCL25-
-
-
-
1Loss-
CCL26-
-
-
-
1Loss-
CCM2-
-
-
-
1Loss-
CCM2L-
-
-
-
3Gain-
CCNA1-
-
-
-
5Amp-
CCNA2-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCND2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNG1-
-
-
-
3Gain-
CCNK-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNT1-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT6A-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD164L2-
-
-
-
3Gain-
CD2-
-
-
-
1Loss-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD27-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD320-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD53-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD9-
-
-
-
1Loss-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
5Amp-
CDAN1-
-
-
-
1Loss-
CDC14A-
-
-
-
1Loss-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
1Loss-
CDC16-
-
-
-
6Amp-
CDC26-
-
-
-
3Gain-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDC73-
-
-
-
1Loss-
CDCA3-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA7L-
-
-
-
1Loss-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
3Gain-
CDH24-
-
-
-
1Loss-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH8p.K732T
Missense
SNP
0.552
2--
CDH9-
-
-
-
3Gain-
CDHR3-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK13-
-
-
-
1Loss-
CDK14-
-
-
-
1Loss-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK20-
-
-
-
3Gain-
CDK2AP1-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDK5RAP2-
-
-
-
3Gain-
CDK6-
-
-
-
1Loss-
CDK8-
-
-
-
3Gain-
CDK9-
-
-
-
1Loss-
CDKL1-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
CEBPB-
-
-
-
3Gain-
CEBPE-
-
-
-
1Loss-
CECR2-
-
-
-
1Loss-
CEL-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CELSR2-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPJ-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPP-
-
-
-
3Gain-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP170-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP192-
-
-
-
1Loss-
CEP250-
-
-
-
3Gain-
CEP290-
-
-
-
1Loss-
CEP350-
-
-
-
1Loss-
CEP41-
-
-
-
1Loss-
CEP44-
-
-
-
1Loss-
CEP76-
-
-
-
1Loss-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
1Loss-
CEPT1-
-
-
-
1Loss-
CERCAM-
-
-
-
1Loss-
CERK-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS3-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CERS5-
-
-
-
1Loss-
CFAP157-
-
-
-
1Loss-
CFAP161-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP69-
-
-
-
1Loss-
CFAP73-
-
-
-
1Loss-
CFAP74-
-
-
-
3Gain-
CFAP77-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFH-
-
-
-
1Loss-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
1Loss-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
1Loss-
CFHR5-
-
-
-
1Loss-
CFI-
-
-
-
1Loss-
CFTR-
-
-
-
1Loss-
CGNL1-
-
-
-
1Loss-
CGRRF1-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAMP1-
-
-
-
6Amp-
CHCHD10-
-
-
-
1Loss-
CHCHD2-
-
-
-
1Loss-
CHD2-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
3Gain-
CHEK2-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHFR-
-
-
-
1Loss-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHML-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHN2-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHPT1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM3-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST11-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST14-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
1Loss-
CIAO2A-
-
-
-
1Loss-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CILP-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CIZ1-
-
-
-
1Loss-
CKAP2-
-
-
-
5Amp-
CKAP4-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKS2-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCN3-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN10-
-
-
-
5Amp-
CLDN12-
-
-
-
1Loss-
CLDN15-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN3-
-
-
-
1Loss-
CLDN4-
-
-
-
1Loss-
CLDN5-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLGN-
-
-
-
1Loss-
CLIC3-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLIP2-
-
-
-
1Loss-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN5-
-
-
-
5Amp-
CLN6-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPX-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLTCL1-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLYBL-
-
-
-
5Amp-
CMA1-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMKLR1-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CNBD2-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNGB1p.V1161F
Missense
SNP
0.145
2--
CNIH1-
-
-
-
1Loss-
CNMD-
-
-
-
6Amp-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNPY2-
-
-
-
1Loss-
CNPY4-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNST-
-
-
-
1Loss-
CNTN1-
-
-
-
1Loss-
CNTN2p.R704Q
Missense
SNP
0.491
2--
CNTNAP3C-
-
-
-
3Gain-
CNTRL-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
1Loss-
COA6-
-
-
-
1Loss-
COBL-
-
-
-
1Loss-
COCH-
-
-
-
1Loss-
COG3-
-
-
-
5Amp-
COG5-
-
-
-
1Loss-
COG6-
-
-
-
5Amp-
COL11A1-
-
-
-
1Loss-
COL15A1-
-
-
-
3Gain-
COL16A1-
-
-
-
3Gain-
COL1A2-
-
-
-
1Loss-
COL20A1-
-
-
-
3Gain-
COL25A1-
-
-
-
1Loss-
COL26A1-
-
-
-
1Loss-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
1Loss-
COL4A1-
-
-
-
6Amp-
COL4A2-
-
-
-
6Amp-
COL5A1-
-
-
-
1Loss-
COL5A3-
-
-
-
1Loss-
COL6A3p.R1597*
Nonsense
SNP
0.224
2--
COL9A3-
-
-
-
3Gain-
COLGALT1-
-
-
-
1Loss-
COLGALT2-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COMMD6-
-
-
-
5Amp-
COMMD7-
-
-
-
3Gain-
COMP-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COP1-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPG2-
-
-
-
1Loss-
COPS2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS6-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ4-
-
-
-
1Loss-
COQ5-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
CORO2A-
-
-
-
3Gain-
CORO2B-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
1Loss-
COX4I2-
-
-
-
3Gain-
COX5A-
-
-
-
1Loss-
COX6A1-
-
-
-
1Loss-
CPA1-
-
-
-
1Loss-
CPA2-
-
-
-
1Loss-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPB2-
-
-
-
5Amp-
CPE-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPED1-
-
-
-
1Loss-
CPLANE2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE6-
-
-
-
1Loss-
CPNE8-
-
-
-
1Loss-
CPS1p.L1478R
Missense
SNP
0.271
2--
CPSF4-
-
-
-
1Loss-
CPSF6-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CPTP-
-
-
-
3Gain-
CPVL-
-
-
-
1Loss-
CRABP1-
-
-
-
1Loss-
CRACR2A-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRAT-
-
-
-
1Loss-
CRB1-
-
-
-
1Loss-
CRB2-
-
-
-
3Gain-
CRB3-
-
-
-
1Loss-
CRCP-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREB5-
-
-
-
1Loss-
CREBL2-
-
-
-
1Loss-
CRELD2p.D279N
Missense
SNP
1.000
1Loss-
CRHR2-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CROCC-
-
-
-
1Loss-
CROT-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRTC3-
-
-
-
1Loss-
CRY1-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYL1-
-
-
-
3Gain-
CRYM-AS1-
-
-
-
NDNDAC008740.1--CRYM-AS1
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSMD3-
-
-
-
3Gain-
CSNK1A1L-
-
-
-
5Amp-
CSNK1E-
-
-
-
1Loss-
CSNK1G1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSRNP2-
-
-
-
1Loss-
CSRP2-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CSTF1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNBIP1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSD-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSL-
-
-
-
3Gain-
CTSO-
-
-
-
1Loss-
CTSV-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CUL4A-
-
-
-
6Amp-
CUX1-
-
-
-
1Loss-
CUX2-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYCS-
-
-
-
1Loss-
CYFIP1-
-
-
-
1Loss-
CYLC2-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP27B1-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
1Loss-
CYP3A43-
-
-
-
1Loss-
CYP3A5-
-
-
-
1Loss-
CYP3A7-
-
-
-
1Loss-
CYP3A7-CYP3A51P-
-
-
-
1Loss-
CYP46A1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYP51A1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
5Amp-
CYSRT1-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
1Loss-
DAB2IP-
-
-
-
3Gain-
DACH1-
-
-
-
6Amp-
DAD1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DAND5-
-
-
-
1Loss-
DAO-
-
-
-
1Loss-
DAOA-
-
-
-
6Amp-
DAPK1-
-
-
-
3Gain-
DAPK2-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
1Loss-
DBF4-
-
-
-
1Loss-
DBH-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
1Loss-
DBT-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DBX2-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCAF4-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCD-
-
-
-
1Loss-
DCDC2B-
-
-
-
3Gain-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCLK1-
-
-
-
5Amp-
DCLK2-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCN-
-
-
-
1Loss-
DCP1B-
-
-
-
1Loss-
DCT-
-
-
-
6Amp-
DCTD-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCUN1D2-
-
-
-
6Amp-
DDA1-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX20-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX31-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX51-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55-
-
-
-
1Loss-
DDX56-
-
-
-
1Loss-
DDX59-
-
-
-
1Loss-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEC1-
-
-
-
3Gain-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DENND1A-
-
-
-
3Gain-
DENND1B-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND2C-
-
-
-
1Loss-
DENND2D-
-
-
-
1Loss-
DENND4A-
-
-
-
1Loss-
DENND5Ap.G753C
Missense
SNP
0.288
1Loss-
DENND5B-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DENR-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DESI2-
-
-
-
1Loss-
DET1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKH-
-
-
-
5Amp-
DHH-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS12-
-
-
-
5Amp-
DHRS2-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX37-
-
-
-
1Loss-
DHX9-
-
-
-
1Loss-
DIABLO-
-
-
-
1Loss-
DIAPH3-
-
-
-
4Gain-
DICER1-
-
-
-
1Loss-
DIDO1p.T1864M
Missense
SNP
0.225
3Gain-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS2-
-
-
-
3Gain-
DIS3-
-
-
-
5Amp-
DIS3L-
-
-
-
1Loss-
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLD-
-
-
-
1Loss-
DLEU7-
-
-
-
5Amp-
DLG4-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DLGAP4-
-
-
-
3Gain-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX5-
-
-
-
1Loss-
DLX6-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMTF1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH10-
-
-
-
1Loss-
DNAH11-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB7-
-
-
-
1Loss-
DNAJB9-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC15-
-
-
-
5Amp-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC2-
-
-
-
1Loss-
DNAJC22-
-
-
-
1Loss-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC3-
-
-
-
5Amp-
DNAJC30-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC8-
-
-
-
3Gain-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNLZ-
-
-
-
1Loss-
DNM1-
-
-
-
1Loss-
DNM1L-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNMT3B-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK9-
-
-
-
5Amp-
DOHH-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DOLK-
-
-
-
1Loss-
DOLPP1-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPH7-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPM2-
-
-
-
1Loss-
DPP7-
-
-
-
1Loss-
DPP8-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPY19L1-
-
-
-
1Loss-
DPY19L2-
-
-
-
1Loss-
DPYD-
-
-
-
1Loss-
DPYSL4p.Q266H
Missense
SNP
0.500
2--
DR1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRAM2-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSN1-
-
-
-
3Gain-
DSPPp.S671N
Missense
SNP
0.602
1Loss-
DTD2-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DTX2-
-
-
-
1Loss-
DTX3-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUS4L-
-
-
-
1Loss-
DUSP15-
-
-
-
3Gain-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
1Loss-
DYNLL1-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYRK2-
-
-
-
1Loss-
DYRK4-
-
-
-
1Loss-
DZIP1-
-
-
-
5Amp-
E2F1-
-
-
-
3Gain-
E2F2-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBPL-
-
-
-
5Amp-
ECE1-
-
-
-
1Loss-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSIT-
-
-
-
1Loss-
EDARADD-
-
-
-
1Loss-
EDC3-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDEM3-
-
-
-
1Loss-
EDF1-
-
-
-
1Loss-
EDN3-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
5Amp-
EEA1-
-
-
-
1Loss-
EEF1A1P13-
-
-
-
NDNDEEF1A1P13--EEF1A1P32
EEF1A1P32-
-
-
-
NDNDEEF1A1P13--EEF1A1P32
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EEPD1-
-
-
-
1Loss-
EFCAB10-
-
-
-
1Loss-
EFCAB2-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFNB2-
-
-
-
6Amp-
EFNB3-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFL7-
-
-
-
1Loss-
EGFR-
-
-
-
1Loss-
EGLN3-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EHMT1-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2AK4-
-
-
-
1Loss-
EIF2B1-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
1Loss-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3I-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4E-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF4H-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELF1-
-
-
-
5Amp-
ELF2-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
1Loss-
ELMO2-
-
-
-
3Gain-
ELMOD2-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELN-
-
-
-
1Loss-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMG1-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
ENDOG-
-
-
-
1Loss-
ENDOU-
-
-
-
1Loss-
ENG-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
5Amp-
ENPEP-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENTHD1-
-
-
-
1Loss-
ENTPD2-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD8-
-
-
-
1Loss-
ENTR1-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EP400-
-
-
-
1Loss-
EPB41-
-
-
-
3Gain-
EPB41L1-
-
-
-
3Gain-
EPB41L3-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPB42-
-
-
-
1Loss-
EPDR1-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA5p.M995I
Missense
SNP
0.250
2--
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHB4-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPHX4-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
5Amp-
EPYC-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERCC5-
-
-
-
5Amp-
ERCC6L2-
-
-
-
3Gain-
ERFp.S137L
Missense
SNP
0.496
2--
ERGIC2-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
1Loss-
ERICH6B-
-
-
-
5Amp-
ERO1B-
-
-
-
1Loss-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERP44-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERV3-1-
-
-
-
1Loss-
ESCO1-
-
-
-
1Loss-
ESD-
-
-
-
5Amp-
ESPL1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETFBKMT-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV6-
-
-
-
1LossETV6--BCL2L14
EVI5-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXD3-
-
-
-
1Loss-
EXO1-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC2-
-
-
-
1Loss-
EXOSC8-
-
-
-
5Amp-
EXOSC9-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
3Gain-
F10-
-
-
-
6Amp-
F11-
-
-
-
1Loss-
F13B-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
F7-
-
-
-
6Amp-
FAAP20-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
3Gain-
FAH-
-
-
-
1Loss-
FAIM2-
-
-
-
1Loss-
FAM102A-
-
-
-
1Loss-
FAM102B-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM124A-
-
-
-
5Amp-
FAM126A-
-
-
-
1Loss-
FAM129A-
-
-
-
1Loss-
FAM129B-
-
-
-
1Loss-
FAM129C-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
1Loss-
FAM13A-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM155A-
-
-
-
6Amp-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM163A-
-
-
-
1Loss-
FAM163B-
-
-
-
1Loss-
FAM166A-
-
-
-
1Loss-
FAM167B-
-
-
-
3Gain-
FAM169B-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM185A-
-
-
-
1Loss-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189A2p.X4_splice
Splice_Site
SNP
0.509
3Gain-
FAM198B-
-
-
-
1Loss-
FAM19A2-
-
-
-
1Loss-
FAM19A3-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM200A-
-
-
-
1Loss-
FAM206A-
-
-
-
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20B-
-
-
-
1Loss-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
1Loss-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM216A-
-
-
-
1Loss-
FAM216B-
-
-
-
5Amp-
FAM217B-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM219B-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
1Loss-
FAM222A-
-
-
-
1Loss-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM229A-
-
-
-
3Gain-
FAM234B-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3C-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM76A-
-
-
-
3Gain-
FAM78A-
-
-
-
1Loss-
FAM81A-
-
-
-
1Loss-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCC-
-
-
-
3Gain-
FANCF-
-
-
-
1Loss-
FANCI-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FAR2-
-
-
-
1Loss-
FARP1-
-
-
-
5Amp-
FARSA-
-
-
-
1Loss-
FAT1-
-
-
-
1Loss-
FAT4-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBRSL1-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL13-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL22-
-
-
-
1Loss-
FBXL3-
-
-
-
5Amp-
FBXO15-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO21-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO24-
-
-
-
1Loss-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW2-
-
-
-
3Gain-
FBXW5-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCGR1B-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FCN3-
-
-
-
3Gain-
FDX2-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FES-
-
-
-
1Loss-
FEZF1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD4-
-
-
-
1Loss-
FGD6-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF13p.V242M
Missense
SNP
0.400
NDND-
FGF14-
-
-
-
5Amp-
FGF2-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGF9-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGL2-
-
-
-
1Loss-
FGR-
-
-
-
3Gain-
FH-
-
-
-
1Loss-
FHAD1-
-
-
-
1Loss-
FHDC1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBCD1-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FIGNL1-
-
-
-
1Loss-
FIGNL2-
-
-
-
1Loss-
FIS1-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FKBP11-
-
-
-
1Loss-
FKBP14-
-
-
-
1Loss-
FKBP15-
-
-
-
3Gain-
FKBP3-
-
-
-
1Loss-
FKBP4-
-
-
-
1Loss-
FKBP6-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FKBP9-
-
-
-
1Loss-
FKTN-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNAp.D125E
Missense
SNP
0.603
NDND-
FLNC-
-
-
-
1Loss-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMN2-
-
-
-
1Loss-
FMNL1p.R305H
Missense
SNP
0.476
2--
FMNL3-
-
-
-
1Loss-
FNBP1-
-
-
-
1Loss-
FNBP1L-
-
-
-
1Loss-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
5Amp-
FNDC7-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FOXA1-
-
-
-
1Loss-
FOXB1-
-
-
-
1Loss-
FOXB2-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXG1-
-
-
-
1Loss-
FOXJ2-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXM1-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FOXO1-
-
-
-
5Amp-
FOXP2-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FOXS1-
-
-
-
3Gain-
FP236383.2-
-
-
-
NDNDBEST1--FP236383.2
FPGS-
-
-
-
1Loss-
FREM2-
-
-
-
5Amp-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD5-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FRRS1-
-
-
-
1Loss-
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
1Loss-
FRY-
-
-
-
3Gain-
FSCB-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSD1L-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL5-
-
-
-
1Loss-
FUBP3-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT7-
-
-
-
1Loss-
FXN-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FZD1-
-
-
-
1Loss-
FZD10-
-
-
-
1Loss-
FZD9-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G2E3-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPB1-
-
-
-
1Loss-
GABRA1-
-
-
-
3Gain-
GABRA5-
-
-
-
1Loss-
GABRA6-
-
-
-
3Gain-
GABRB3-
-
-
-
1Loss-
GABRD-
-
-
-
3Gain-
GABRG1p.K296N
Missense
SNP
0.285
2--
GABRG2-
-
-
-
3Gain-
GABRG3-
-
-
-
1Loss-
GAD2p.R580C
Missense
SNP
0.286
2--
GADD45B-
-
-
-
1Loss-
GADD45G-
-
-
-
3Gain-
GADD45GIP1-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GAL3ST4-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT16-
-
-
-
1Loss-
GALNT17-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT6-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNT8-
-
-
-
1Loss-
GALNT9-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAPVD1-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GARNL3-
-
-
-
1Loss-
GARS-
-
-
-
1Loss-
GAS1-
-
-
-
3Gain-
GAS2-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GAS6-
-
-
-
6Amp-
GAS7-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
1Loss-
GATAD1-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATB-
-
-
-
1Loss-
GATC-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
1Loss-
GCDH-
-
-
-
1Loss-
GCH1-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCK-
-
-
-
1Loss-
GCLM-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCNT1-
-
-
-
3Gain-
GCNT3-
-
-
-
1Loss-
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
1Loss-
GCSAML-
-
-
-
1Loss-
GCSAML-AS1-
-
-
-
1Loss-
GDA-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDAP2-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDPGP1-
-
-
-
1Loss-
GEMIN2-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFI1-
-
-
-
1Loss-
GFI1B-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGACT-
-
-
-
5Amp-
GGCT-
-
-
-
1Loss-
GGPS1-
-
-
-
1Loss-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC2-
-
-
-
1Loss-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GIGYF1-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIT2-
-
-
-
1Loss-
GJA3-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC3-
-
-
-
1Loss-
GJD2-
-
-
-
0Del-
GK3P-
-
-
-
1Loss-
GKAP1-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLE1-
-
-
-
1Loss-
GLI1-
-
-
-
1Loss-
GLI3-
-
-
-
1Loss-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX2-
-
-
-
1Loss-
GLS2-
-
-
-
1Loss-
GLT1D1-
-
-
-
1Loss-
GLT6D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUL-
-
-
-
1Loss-
GMEB1-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA13p.F289L
Missense
SNP
0.498
2--
GNA14-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
3Gain-
GNAT2-
-
-
-
1Loss-
GNAZ-
-
-
-
1Loss-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
1Loss-
GNB2-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNB5-
-
-
-
1Loss-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNG4-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNGT1-
-
-
-
1Loss-
GNPTAB-
-
-
-
1Loss-
GNS-
-
-
-
1Loss-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
1Loss-
GOLGA3p.N1128T
Missense
SNP
0.291
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
0Del-
GOLGA8B-
-
-
-
0Del-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLM1-
-
-
-
3Gain-
GOLT1B-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GPALPP1-
-
-
-
5Amp-
GPATCH2L-
-
-
-
1Loss-
GPATCH3-
-
-
-
3Gain-
GPC2-
-
-
-
1Loss-
GPC5-
-
-
-
6Amp-
GPC6-
-
-
-
6Amp-
GPD1-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHN-
-
-
-
1Loss-
GPM6A-
-
-
-
1Loss-
GPN2-
-
-
-
3Gain-
GPN3-
-
-
-
1Loss-
GPNMB-
-
-
-
1Loss-
GPR107-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR12-
-
-
-
3Gain-
GPR132-
-
-
-
1Loss-
GPR137B-
-
-
-
1Loss-
GPR141-
-
-
-
1Loss-
GPR146-
-
-
-
3Gain-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR162-
-
-
-
1Loss-
GPR176-
-
-
-
1Loss-
GPR18-
-
-
-
5Amp-
GPR180-
-
-
-
5Amp-
GPR182-
-
-
-
1Loss-
GPR183-
-
-
-
5Amp-
GPR19-
-
-
-
1Loss-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
1Loss-
GPR3-
-
-
-
3Gain-
GPR33-
-
-
-
1Loss-
GPR37-
-
-
-
1Loss-
GPR52-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPR85-
-
-
-
1Loss-
GPR88-
-
-
-
1Loss-
GPRC5A-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM1-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB10-
-
-
-
1Loss-
GREB1p.S1669L
Missense
SNP
0.533
2--
GREB1L-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
1Loss-
GRHL3p.S358G
Missense
SNP
0.404
1Loss-
GRIA2-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIN1-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN3A-
-
-
-
3Gain-
GRIN3Bp.R336C
Missense
SNP
0.681
1Loss-
GRIP1-
-
-
-
1Loss-
GRK1-
-
-
-
6Amp-
GRK3-
-
-
-
1Loss-
GRM8-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
6Amp-
GSC-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDME-
-
-
-
1Loss-
GSG1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSN-
-
-
-
3Gain-
GSS-
-
-
-
3Gain-
GSTCD-
-
-
-
1Loss-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GSX1-
-
-
-
3Gain-
GTF2A1-
-
-
-
1Loss-
GTF2A2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2F2-
-
-
-
5Amp-
GTF2H1-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF2I-
-
-
-
1Loss-
GTF2IRD1-
-
-
-
1Loss-
GTF2IRD2-
-
-
-
1Loss-
GTF2IRD2B-
-
-
-
1Loss-
GTF3A-
-
-
-
3Gain-
GTF3C4-
-
-
-
1Loss-
GTF3C5-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP10-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GTSF1-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUSB-
-
-
-
1Loss-
GXYLT1-
-
-
-
1Loss-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GYS2-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFV-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3C-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD3-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO2-
-
-
-
1Loss-
HAPLN3-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
1Loss-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCFC2-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN4-
-
-
-
1Loss-
HCRTR1-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC7-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGFL2-
-
-
-
1Loss-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD3-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HEATR1-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECTD4-
-
-
-
1Loss-
HECW1-
-
-
-
1Loss-
HELB-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ2-
-
-
-
3Gain-
HEMGN-
-
-
-
3Gain-
HENMT1-
-
-
-
1Loss-
HEPACAM2-
-
-
-
1Loss-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD2-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HIBADH-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
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2-HIST1H4H--AL356488.2
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HS3ST3B1-
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1Loss-
HS6ST3-
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5Amp-
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HSCB-
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1Loss-
HSD11B1L-
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1Loss-
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HTR1D-
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1Loss-
HTR2A-
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5Amp-
HTR6-
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1Loss-
HUS1-
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1Loss-
HVCN1-
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1Loss-
HYAL4-
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IGLV10-54-
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IMPACT-
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1Loss-
INCA1-
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1Loss-
INF2-
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1Loss-
ING1-
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6Amp-
ING2-
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1Loss-
ING3-
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1Loss-
ING4-
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1Loss-
INHBA-
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1Loss-
INHBC-
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1Loss-
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1Loss-
INIP-
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3Gain-
INKA2-
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1Loss-
INMT-
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1Loss-
INMT-MINDY4-
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1Loss-
INO80-
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INO80C-
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INPP4B-
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INS-
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INS-IGF2-
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INSR-
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INSYN1-
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3Gain-
INTS12-
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1Loss-
INTS13-
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1Loss-
INTS14-
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1Loss-
INTS6-
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5Amp-
INTU-
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1Loss-
INVS-
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3Gain-
IPO4-
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1Loss-
IPO5-
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5Amp-
IPO7-
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1Loss-
IPO8-
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1Loss-
IPPK-
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3Gain-
IQCC-
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3Gain-
IQCD-
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1Loss-
IQCE-
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3Gain-
IQCH-
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1Loss-
IQCN-
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IQGAP1-
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1Loss-
IQSEC3-
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IQUB-
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1Loss-
IRAK3-
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IRAK4-
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1Loss-
IREB2-
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1Loss-
IRF2-
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1Loss-
IRF2BP1p.G566D
Missense
SNP
0.378
2--
IRF2BP2-
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IRF2BPL-
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1Loss-
IRF5-
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1Loss-
IRF7-
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1Loss-
IRF9-
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1Loss-
IRS2-
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6Amp-
ISCA1-
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3Gain-
ISCA2-
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1Loss-
ISCU-
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1Loss-
ISG15-
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3Gain-
ISG20-
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1Loss-
ISL2-
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1Loss-
ISLR-
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1Loss-
ISLR2-
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ISM2-
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1Loss-
ISPD-
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3Gain-
ISX-
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1Loss-
ISYNA1-
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1Loss-
ITCH-
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3Gain-
ITFG2-
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1Loss-
ITGA11-
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1Loss-
ITGA5-
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1Loss-
ITGA7-
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1Loss-
ITGAE-
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1Loss-
ITGB7-
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1Loss-
ITGB8-
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3Gain-
ITGBL1-
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5Amp-
ITM2B-
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5Amp-
ITPKA-
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1Loss-
ITPR2-
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1Loss-
ITPRID1-
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1Loss-
IVD-
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1Loss-
IVNS1ABP-
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1Loss-
IZUMO4-
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1Loss-
JADE1-
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1Loss-
JAG2-
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1Loss-
JAK3-
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1Loss-
JAZF1-
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1Loss-
JMJD7-
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1Loss-
JMJD7-PLA2G4B-
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1Loss-
JOSD1-
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1Loss-
JPH2-
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3Gain-
JPH4-
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1Loss-
JSRP1-
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1Loss-
JUNB-
-
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1Loss-
JUND-
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1Loss-
KANK2-
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1Loss-
KANK3-
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1Loss-
KANSL2-
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1Loss-
KATNAL1-
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3Gain-
KATNAL2-
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1Loss-
KATNBL1-
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1Loss-
KAZN-
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1Loss-
KBTBD13-
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1Loss-
KBTBD2-
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1Loss-
KBTBD6-
-
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5Amp-
KBTBD7-
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5Amp-
KCNA1-
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1Loss-
KCNA10-
-
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1Loss-
KCNA2-
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1Loss-
KCNA3-
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1Loss-
KCNA5-
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1Loss-
KCNA6-
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1Loss-
KCNAB2-
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1Loss-
KCNAB3-
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1Loss-
KCNB1-
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3Gain-
KCNC1-
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1Loss-
KCNC2-
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1Loss-
KCNC4-
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1Loss-
KCND2-
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1Loss-
KCND3-
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1Loss-
KCNG1-
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3Gain-
KCNG2-
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1Loss-
KCNH3-
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1Loss-
KCNJ11-
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1Loss-
KCNJ12-
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1Loss-
KCNJ18-
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1Loss-
KCNJ4-
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1Loss-
KCNJ8-
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1Loss-
KCNK1-
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1Loss-
KCNK10-
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1Loss-
KCNK15-
-
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3Gain-
KCNMB4-
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1Loss-
KCNN1-
-
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1Loss-
KCNQ1-
-
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1Loss-
KCNQ2-
-
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3Gain-
KCNRG-
-
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5Amp-
KCNS1-
-
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3Gain-
KCNT1-
-
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1Loss-
KCNT2-
-
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1Loss-
KCP-
-
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-
1Loss-
KCTD1-
-
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1Loss-
KCTD10-
-
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1Loss-
KCTD11-
-
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1Loss-
KCTD12-
-
-
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5Amp-
KCTD17-
-
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-
1Loss-
KCTD4-
-
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5Amp-
KCTD7-
-
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1Loss-
KDELC1-
-
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5Amp-
KDELR2-
-
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3Gain-
KDELR3-
-
-
-
1Loss-
KDF1-
-
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3Gain-
KDM1A-
-
-
-
1Loss-
KDM2B-
-
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-
1Loss-
KDM4B-
-
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1Loss-
KDM5A-
-
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1Loss-
KDM6B-
-
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1Loss-
KDSR-
-
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1Loss-
KEAP1-
-
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1Loss-
KERA-
-
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1Loss-
KHDRBS1-
-
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3Gain-
KHNYN-
-
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1Loss-
KHSRP-
-
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1Loss-
KIAA0040-
-
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1Loss-
KIAA0391-
-
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1Loss-
KIAA0753-
-
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1Loss-
KIAA0895-
-
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1Loss-
KIAA0930-
-
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1Loss-
KIAA1024-
-
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-
1Loss-
KIAA1109-
-
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-
1Loss-
KIAA1324-
-
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1Loss-
KIAA1324L-
-
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1Loss-
KIAA1328-
-
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1Loss-
KIAA1522-
-
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3Gain-
KIAA1551-
-
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1Loss-
KIAA1614-
-
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1Loss-
KIAA1671-
-
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-
1Loss-
KIAA1755-
-
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3Gain-
KIAA1958-
-
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3Gain-
KIAA2013-
-
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-
1Loss-
KIF12-
-
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-
3Gain-
KIF14-
-
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-
1Loss-
KIF17-
-
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-
1Loss-
KIF18A-
-
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-
1Loss-
KIF1B-
-
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1Loss-
KIF1C-
-
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-
1Loss-
KIF21A-
-
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1Loss-
KIF23-
-
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1Loss-
KIF26A-
-
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1Loss-
KIF26B-
-
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1Loss-
KIF27-
-
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-
3Gain-
KIF3B-
-
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3Gain-
KIF5A-
-
-
-
1Loss-
KIF7-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KL-
-
-
-
3Gain-
KLC1-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF12-
-
-
-
5Amp-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF4-
-
-
-
3Gain-
KLF5-
-
-
-
5Amp-
KLF9-
-
-
-
3Gain-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHL1p.P260H
Missense
SNP
0.168
6Amp-
KLHL14-
-
-
-
1Loss-
KLHL17-
-
-
-
3Gain-
KLHL2-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL25-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL42-
-
-
-
1Loss-
KLHL7-
-
-
-
1Loss-
KLHL8-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMO-
-
-
-
1Loss-
KMT2D-
-
-
-
1Loss-
KMT2E-
-
-
-
1Loss-
KMT5A-
-
-
-
1Loss-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPNA3-
-
-
-
5Amp-
KPNA6-
-
-
-
3Gain-
KPNA7-
-
-
-
1Loss-
KRASp.G12S
Missense
SNP
1.000
1Loss-
KRBA2-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRIT1-
-
-
-
1Loss-
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-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KSR2-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
KYAT1-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
1Loss-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
5Amp-
LACRT-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LACTBL1-
-
-
-
1Loss-
LAG3-
-
-
-
1Loss-
LALBA-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
1Loss-
LAMB4-
-
-
-
1Loss-
LAMC1-
-
-
-
1Loss-
LAMC2-
-
-
-
1Loss-
LAMC3-
-
-
-
1Loss-
LAMP1-
-
-
-
6Amp-
LAMTOR3-
-
-
-
1Loss-
LAMTOR4-
-
-
-
1Loss-
LAMTOR5-
-
-
-
1Loss-
LANCL2-
-
-
-
1Loss-
LAPTM4A-
-
-
-
2-RNA5-8SN2--LAPTM4A
LAPTM5-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LAT2-
-
-
-
1Loss-
LATS2-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LCK-
-
-
-
3Gain-
LCMT2-
-
-
-
1Loss-
LCN1-
-
-
-
1Loss-
LCN10-
-
-
-
1Loss-
LCN12-
-
-
-
1Loss-
LCN15-
-
-
-
1Loss-
LCN2-
-
-
-
1Loss-
LCN6-
-
-
-
1Loss-
LCN8-
-
-
-
1Loss-
LCN9-
-
-
-
1Loss-
LCNL1-
-
-
-
1Loss-
LCP1-
-
-
-
5Amp-
LCTL-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDHB-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LEO1-
-
-
-
1Loss-
LEP-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS8-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LHFPL3-
-
-
-
1Loss-
LHFPL6-
-
-
-
5Amp-
LHX2-
-
-
-
3Gain-
LHX3-
-
-
-
1Loss-
LHX4-
-
-
-
1Loss-
LHX5-
-
-
-
1Loss-
LHX6-
-
-
-
3Gain-
LHX9-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIG4-
-
-
-
6Amp-
LIMA1-
-
-
-
1Loss-
LIME1-
-
-
-
3Gain-
LIMK1-
-
-
-
1Loss-
LIMK2-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINC01128-
-
-
-
NDNDMACO1--LINC01128
LINGO1-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LINS1-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLPH-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMBR1L-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN2-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD1-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO7-
-
-
-
5Amp-
LMOD2-
-
-
-
1Loss-
LMTK2-
-
-
-
1Loss-
LMX1B-
-
-
-
1Loss-
LNP1-
-
-
-
1Loss-
LNX2-
-
-
-
3Gain-
LONP1-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LPAR1-
-
-
-
3Gain-
LPAR2-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPAR6-
-
-
-
5Amp-
LPCAT3-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPIN3-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
5Amp-
LRCH4-
-
-
-
1Loss-
LRCOL1-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRIF1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIG3-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC10-
-
-
-
1Loss-
LRRC17-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC26-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC4-
-
-
-
1Loss-
LRRC43-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC63-
-
-
-
5Amp-
LRRC72-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8A-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRD1-
-
-
-
1Loss-
LRRIQ1-
-
-
-
1Loss-
LRRK1-
-
-
-
1Loss-
LRRK2-
-
-
-
1Loss-
LRRN3-
-
-
-
1Loss-
LRSAM1-
-
-
-
1Loss-
LRTM2-
-
-
-
1Loss-
LRWD1-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LSM4-
-
-
-
1Loss-
LSM5-
-
-
-
1Loss-
LSM6-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LTA4H-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP3p.V615M
Missense
SNP
0.284
2--
LTBR-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LUM-
-
-
-
1Loss-
LUZP1-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LYL1-
-
-
-
1Loss-
LYPD8-
-
-
-
1Loss-
LYPLA2-
-
-
-
1Loss-
LYSMD2-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYST-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZ-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MAB21L1-
-
-
-
5Amp-
MAB21L2-
-
-
-
1Loss-
MAB21L3-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACO1-
-
-
-
1LossMACO1--LINC01128
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAFK-
-
-
-
3Gain-
MAGEE1p.A791G
Missense
SNP
0.568
NDND-
MAGEL2-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAGOHB-
-
-
-
1Loss-
MALSU1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
3Gain-
MAMDC4-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAN1A2-
-
-
-
1Loss-
MAN1B1-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2K1-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K21-
-
-
-
1Loss-
MAP3K6-
-
-
-
3Gain-
MAP4K5-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK1IP1L-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAP1-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
-
-
1Loss-
MARCH1-
-
-
-
1Loss-
MARCH2-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARCKSL1-
-
-
-
3Gain-
MARK3-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MAT2B-
-
-
-
3Gain-
MATK-
-
-
-
1Loss-
MATN1-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAU2-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBD6-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBLAC1-
-
-
-
1Loss-
MBNL2-
-
-
-
5Amp-
MBP-
-
-
-
1Loss-
MBTD1p.F622Y
Missense
SNP
0.522
2--
MC2R-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2L-
-
-
-
6Amp-
MCHR1-
-
-
-
1Loss-
MCM5-
-
-
-
1Loss-
MCM7-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCRS1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCTS2P-
-
-
-
3Gain-
MCUB-
-
-
-
1Loss-
MDFIC-
-
-
-
1Loss-
MDH2-
-
-
-
1Loss-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
MECR-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED13L-
-
-
-
1Loss-
MED15-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED18-
-
-
-
3Gain-
MED21-
-
-
-
1Loss-
MED22-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED27-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
5Amp-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
3Gain-
MEF2A-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEI1-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
1Loss-
MEPCE-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METAP2-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL21C-
-
-
-
5Amp-
METTL25-
-
-
-
1Loss-
METTL27-
-
-
-
1Loss-
METTL2B-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFGE8-
-
-
-
1Loss-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD5-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MGA-
-
-
-
1Loss-
MGAMp.D1897N
Missense
SNP
0.634
NDND-
MGARP-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGAT4D-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MIA2-
-
-
-
1Loss-
MIB1-
-
-
-
1Loss-
MIB2-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICU2-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MIGA2-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY2-
-
-
-
1Loss-
MINDY4-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MIP-
-
-
-
1Loss-
MIPEP-
-
-
-
3Gain-
MIPOL1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MKLN1-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLNR-
-
-
-
5Amp-
MLXIP-
-
-
-
1Loss-
MLXIPL-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMAB-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMEL1-
-
-
-
3Gain-
MMP11-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMP17-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP24-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MMP9-
-
-
-
3Gain-
MMRN1-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNS1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MOGAT3-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
3Gain-
MORN3-
-
-
-
1Loss-
MORN5-
-
-
-
3Gain-
MOSPD3-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPLKIP-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP6-
-
-
-
1Loss-
MPPE1-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MR1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH8-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL20-
-
-
-
3Gain-
MRPL23-
-
-
-
1Loss-
MRPL32-
-
-
-
1Loss-
MRPL34-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL41-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPL46-
-
-
-
1Loss-
MRPL50-
-
-
-
3Gain-
MRPL51-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL57-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS14-
-
-
-
1Loss-
MRPS17-
-
-
-
1Loss-
MRPS2-
-
-
-
1Loss-
MRPS24-
-
-
-
1Loss-
MRPS31-
-
-
-
5Amp-
MRPS35-
-
-
-
1Loss-
MRRF-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSI1-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSRB3-
-
-
-
1Loss-
MT1HL1-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTERF1-
-
-
-
1Loss-
MTERF2-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFMT-
-
-
-
1Loss-
MTFP1-
-
-
-
1Loss-
MTFR1L-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTIF3-
-
-
-
3Gain-
MTMR10-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR6-
-
-
-
3Gain-
MTNR1A-
-
-
-
1Loss-
MTOR-
-
-
-
1Loss-
MTR-
-
-
-
1Loss-
MTRF1-
-
-
-
5Amp-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
1Loss-
MTUS2-
-
-
-
3Gain-
MUC12-
-
-
-
1Loss-
MUC15-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC17-
-
-
-
1Loss-
MUC19-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
1Loss-
MUC22p.E1431A
Missense
SNP
0.160
2--
MUC3A-
-
-
-
1Loss-
MUC4-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUCL1-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUSK-
-
-
-
3Gain-
MVB12A-
-
-
-
1Loss-
MVB12B-
-
-
-
1Loss-
MVK-
-
-
-
1Loss-
MXRA8-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYCBP2-
-
-
-
5Amp-
MYCNp.M116T
Missense
SNP
0.336
2--
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL10-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL2-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYL7-
-
-
-
1Loss-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYMK-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
6Amp-
MYO18B-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1E-
-
-
-
1Loss-
MYO1F-
-
-
-
1Loss-
MYO1G-
-
-
-
1Loss-
MYO1H-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO9A-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM3-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYRFL-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
MZT1-
-
-
-
5Amp-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA15-
-
-
-
1Loss-
NAA16-
-
-
-
5Amp-
NAA25-
-
-
-
1Loss-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAB2-
-
-
-
1Loss-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NACAD-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NACC2-
-
-
-
1Loss-
NADK-
-
-
-
3Gain-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAIF1-
-
-
-
1Loss-
NALCN-
-
-
-
5Amp-
NAMPT-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPEPLD-
-
-
-
1Loss-
NAPG-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NAT16-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NAXD-
-
-
-
6Amp-
NBEA-
-
-
-
5Amp-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF26-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP1-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCF1-
-
-
-
1Loss-
NCF2-
-
-
-
1Loss-
NCF4-
-
-
-
1Loss-
NCKAP1L-
-
-
-
1Loss-
NCKAP5L-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
1Loss-
NCOR2-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCS1-
-
-
-
1Loss-
NDC80-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
5Amp-
NDN-
-
-
-
1Loss-
NDNF-
-
-
-
1Loss-
NDOR1-
-
-
-
1Loss-
NDRG3-
-
-
-
3Gain-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
1Loss-
NDUFA5-
-
-
-
1Loss-
NDUFA6-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFA8-
-
-
-
3Gain-
NDUFA9-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFC1-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFV2-
-
-
-
1Loss-
NECAB3-
-
-
-
3Gain-
NECAP1-
-
-
-
1Loss-
NECAP2-
-
-
-
1Loss-
NEDD1-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK3-
-
-
-
5Amp-
NEK5-
-
-
-
5Amp-
NEK6-
-
-
-
3Gain-
NEK7-
-
-
-
1Loss-
NELFB-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELL1-
-
-
-
1Loss-
NELL2-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD4-
-
-
-
1Loss-
NEUROD6-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NF1p.E1123K
Missense
SNP
0.529
2--
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFATC4-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFE2L3-
-
-
-
1Loss-
NFE4-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIL3-
-
-
-
3Gain-
NFIX-
-
-
-
1Loss-
NFKB1-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFS1-
-
-
-
3Gain-
NFYB-
-
-
-
1Loss-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGF-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHLH2-
-
-
-
1Loss-
NHLRC2p.S276L
Missense
SNP
0.508
2--
NHLRC3-
-
-
-
5Amp-
NID1-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NINJ1-
-
-
-
3Gain-
NINJ2-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPBLp.I1756V
Missense
SNP
0.542
2--
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
1Loss-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NIT2-
-
-
-
1Loss-
NKAIN1-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKX2-1-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP3-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NMB-
-
-
-
1Loss-
NME8-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NMNAT2-
-
-
-
1Loss-
NMRK1-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NNMTp.A198V
Missense
SNP
0.568
2--
NOC2L-
-
-
-
3Gain-
NOC4L-
-
-
-
1Loss-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOL9-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS1p.A641T
Missense
SNP
0.293
1Loss-
NOTCH1-
-
-
-
1Loss-
NOTCH2-
-
-
-
1Loss-
NOTCH3-
-
-
-
1Loss-
NOVA1-
-
-
-
1Loss-
NOX5-
-
-
-
1Loss-
NOXA1-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
1Loss-
NPC1L1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPDC1-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPFF-
-
-
-
1Loss-
NPHS2-
-
-
-
1Loss-
NPL-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPSR1p.D204Y
Missense
SNP
0.377
1Loss-
NPTN-
-
-
-
1Loss-
NPTX2-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NPVF-
-
-
-
1Loss-
NPY-
-
-
-
1Loss-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NR0B2-
-
-
-
3Gain-
NR1H4-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR5A2-
-
-
-
1Loss-
NR6A1-
-
-
-
3Gain-
NRARP-
-
-
-
1Loss-
NRAS-
-
-
-
1Loss-
NRCAM-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRIP2-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSMCE3-
-
-
-
1LossNSMCE3--AC245033.1
NSMCE3--AC245033.4
NSMF-
-
-
-
1Loss-
NSUN5-
-
-
-
1Loss-
NT5C3A-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTMT1-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTNG2-
-
-
-
1Loss-
NTRK2-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTS-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
1Loss-
NUBPL-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDC-
-
-
-
3Gain-
NUDCD2-
-
-
-
3Gain-
NUDCD3-
-
-
-
1Loss-
NUDT1-
-
-
-
3Gain-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
5Amp-
NUDT4-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
5Amp-
NUMB-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP188-
-
-
-
1Loss-
NUP214-
-
-
-
1Loss-
NUP37-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NUP58-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
1Loss-
NUPR2-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXNL2-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
1Loss-
NYAP1-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OBP2A-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OCA2-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
OCLM-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
1Loss-
OCSTAMP-
-
-
-
3Gain-
ODF2-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
1Loss-
OGDH-
-
-
-
1Loss-
OGFOD2-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGN-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OLFM1-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFM3-
-
-
-
1Loss-
OLFM4-
-
-
-
6Amp-
OLFML1-
-
-
-
1Loss-
OLFML2A-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLR1-
-
-
-
1Loss-
OMD-
-
-
-
3Gain-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPN1SW-
-
-
-
1Loss-
OPN3-
-
-
-
1Loss-
OPRD1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10P1-
-
-
-
1Loss-
OR11L1-
-
-
-
1Loss-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13G1-
-
-
-
1Loss-
OR14A16-
-
-
-
1Loss-
OR14A2-
-
-
-
1Loss-
OR14C36-
-
-
-
1Loss-
OR14I1-
-
-
-
1Loss-
OR14K1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
3Gain-
OR1C1-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1M1-
-
-
-
1Loss-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR2AE1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
1Loss-
OR2AK2-
-
-
-
1Loss-
OR2AP1-
-
-
-
1Loss-
OR2B11-
-
-
-
1Loss-
OR2C3-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2G2-
-
-
-
1Loss-
OR2G3-
-
-
-
1Loss-
OR2G6-
-
-
-
1Loss-
OR2K2-
-
-
-
3Gain-
OR2L13-
-
-
-
1Loss-
OR2L2-
-
-
-
1Loss-
OR2L3-
-
-
-
1Loss-
OR2L5-
-
-
-
1Loss-
OR2L8-
-
-
-
1Loss-
OR2M2-
-
-
-
1Loss-
OR2M3-
-
-
-
1Loss-
OR2M4-
-
-
-
1Loss-
OR2M5-
-
-
-
1Loss-
OR2M7-
-
-
-
1Loss-
OR2T1-
-
-
-
1Loss-
OR2T10-
-
-
-
1Loss-
OR2T11-
-
-
-
1Loss-
OR2T12-
-
-
-
1Loss-
OR2T2-
-
-
-
1Loss-
OR2T27-
-
-
-
1Loss-
OR2T29-
-
-
-
1Loss-
OR2T3-
-
-
-
1Loss-
OR2T33-
-
-
-
1Loss-
OR2T34-
-
-
-
1Loss-
OR2T35-
-
-
-
1Loss-
OR2T4-
-
-
-
1Loss-
OR2T5-
-
-
-
1Loss-
OR2T6-
-
-
-
1Loss-
OR2T8-
-
-
-
1Loss-
OR2W3-
-
-
-
1Loss-
OR2Z1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F5-
-
-
-
3Gain-
OR4F6-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5BS1P-
-
-
-
1Loss-
OR5C1-
-
-
-
3Gain-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6F1-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7E47P-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8S1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORAI2-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL1A-
-
-
-
0Del-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSBPL8-
-
-
-
1Loss-
OSER1-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OSTF1-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7A-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH1-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXGR1-
-
-
-
5Amp-
P2RX1-
-
-
-
1Loss-
P2RX2-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P3H3-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PABPC1-
-
-
-
2-RNA5-8SN2--PABPC1
PABPC1L-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PABPN1-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6p.V693I
Missense
SNP
0.510
1Loss-
PAEP-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAH-
-
-
-
1Loss-
PAK6-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PALM3-
-
-
-
1Loss-
PALMD-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PAN3-
-
-
-
3Gain-
PANK4-
-
-
-
3Gain-
PANX2-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA-
-
-
-
3Gain-
PAPPA2-
-
-
-
1Loss-
PAPSS1-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR7-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP11-
-
-
-
1Loss-
PARP16-
-
-
-
1Loss-
PARP4-
-
-
-
3Gain-
PARP6-
-
-
-
1Loss-
PARPBP-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX4-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PAX9-
-
-
-
1Loss-
PAXX-
-
-
-
1Loss-
PBX3-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCCA-
-
-
-
5Amp-
PCDH17-
-
-
-
6Amp-
PCDH20-
-
-
-
4Gain-
PCDH8-
-
-
-
6Amp-
PCDH9-
-
-
-
6Amp-
PCDHA7p.T633M
Missense
SNP
0.213
2--
PCDHA9p.R800*
Nonsense
SNP
0.549
2--
PCED1B-
-
-
-
1Loss-
PCID2-
-
-
-
6Amp-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCLAF-
-
-
-
1Loss-
PCMTD2-
-
-
-
3Gain-
PCOLCE-
-
-
-
1Loss-
PCP2-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PDAP1-
-
-
-
1Loss-
PDC-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDCL-
-
-
-
3Gain-
PDE1B-
-
-
-
1Loss-
PDE1C-
-
-
-
1Loss-
PDE3A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE5A-
-
-
-
1Loss-
PDE6H-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDK4-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDRG1-
-
-
-
3Gain-
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDXP-
-
-
-
1Loss-
PDZRN4-
-
-
-
1Loss-
PEAK1-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP1-
-
-
-
1Loss-
PEF1-
-
-
-
3Gain-
PEG10-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
3Gain-
PES1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX1-
-
-
-
1Loss-
PEX10-
-
-
-
3Gain-
PEX11A-
-
-
-
1Loss-
PEX11G-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PEX26-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFDN5-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PGAM2-
-
-
-
1Loss-
PGAM5-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGBD2-
-
-
-
1Loss-
PGBD4-
-
-
-
1Loss-
PGD-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGM5-
-
-
-
3Gain-
PGPEP1-
-
-
-
1Loss-
PGPEP1L-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
3Gain-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHETA1-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF11-
-
-
-
5Amp-
PHF13-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHGDH-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHKG1-
-
-
-
1Loss-
PHLDA1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHPT1-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHYHD1-
-
-
-
1Loss-
PI3-
-
-
-
3Gain-
PI4K2Bp.S328L
Missense
SNP
0.480
2--
PI4KA-
-
-
-
1Loss-
PIANP-
-
-
-
1Loss-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PIBF1-
-
-
-
5Amp-
PICK1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO2-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGV-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CAp.E542K
Missense
SNP
0.556
2--
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
1Loss-
PIK3IP1-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PILRA-
-
-
-
1Loss-
PILRB-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PIP4K2C-
-
-
-
1Loss-
PIP5K1B-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PIP5KL1-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PKD1L1-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKIG-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKN1-
-
-
-
1Loss-
PKN3-
-
-
-
1Loss-
PKP2-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB2-
-
-
-
1Loss-
PLCG1-
-
-
-
3Gain-
PLCG2-
-
-
-
2-RPL9P7--PLCG2
PLCH2-
-
-
-
3Gain-
PLCZ1-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD5-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEK2-
-
-
-
1Loss-
PLEKHA5-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
1Loss-
PLEKHN1p.E67*
Nonsense
SNP
0.625
3Gain-
PLEKHO2-
-
-
-
1Loss-
PLIN1-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLOD3-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP7-
-
-
-
1Loss-
PLPPR1-
-
-
-
3Gain-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLVAP-
-
-
-
1Loss-
PLXNA4-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PLXNC1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PML-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMPCA-
-
-
-
1Loss-
PMPCB-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PNMA1-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA7-
-
-
-
1Loss-
PNPLA8-
-
-
-
1Loss-
PNRC2-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
PODXL-
-
-
-
1Loss-
POFUT1-
-
-
-
3Gain-
POLD2-
-
-
-
1Loss-
POLDIP3-
-
-
-
1Loss-
POLE-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLE3-
-
-
-
3Gain-
POLG-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLM-
-
-
-
1Loss-
POLR1D-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
1Loss-
POLR3B-
-
-
-
1Loss-
POLR3H-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
1Loss-
POM121C-
-
-
-
1Loss-
POM121L12-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POMT1-
-
-
-
1Loss-
POMT2-
-
-
-
1Loss-
POMZP3-
-
-
-
1Loss-
PON1-
-
-
-
1Loss-
PON2-
-
-
-
1Loss-
PON3-
-
-
-
1Loss-
POP5-
-
-
-
1Loss-
POP7-
-
-
-
1Loss-
POR-
-
-
-
1Loss-
POSTN-
-
-
-
5Amp-
POT1-
-
-
-
1Loss-
POTEC-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU4F1-
-
-
-
5Amp-
POU4F2-
-
-
-
1Loss-
POU6F1-
-
-
-
1Loss-
POU6F2-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPFIA2-
-
-
-
1Loss-
PPFIBP1-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPIA-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIL2-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1J-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R13B-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R2-
-
-
-
1Loss-
PPP1R26-
-
-
-
1Loss-
PPP1R35-
-
-
-
1Loss-
PPP1R3A-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
1Loss-
PPP1R8-
-
-
-
3Gain-
PPP1R9A-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP3CA-
-
-
-
1Loss-
PPP3R2-
-
-
-
3Gain-
PPP4R1-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6C-
-
-
-
3Gain-
PPP6R2-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAME-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRDM12-
-
-
-
1Loss-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDX2-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PRG4-
-
-
-
1Loss-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAB1-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
1Loss-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKCZ-
-
-
-
3Gain-
PRKD1-
-
-
-
1Loss-
PRKRIP1-
-
-
-
1Loss-
PRMT2-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT6-
-
-
-
1Loss-
PRMT8-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PROCR-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROSER1-
-
-
-
5Amp-
PROX2-
-
-
-
1Loss-
PROZ-
-
-
-
6Amp-
PRPF38B-
-
-
-
1Loss-
PRPF39-
-
-
-
1Loss-
PRPF4-
-
-
-
3Gain-
PRPF40B-
-
-
-
1Loss-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRRC2B-
-
-
-
1Loss-
PRRT1B-
-
-
-
1Loss-
PRRT4-
-
-
-
1Loss-
PRRX2-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTG-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE2-
-
-
-
3Gain-
PRXL2B-
-
-
-
3Gain-
PRXL2C-
-
-
-
3Gain-
PSAT1-
-
-
-
3Gain-
PSEN1-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
1Loss-
PSMB1p.Y125C
Missense
SNP
0.514
2--
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMC2-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD5-
-
-
-
3Gain-
PSMD9-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMG2-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PSRC1-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
3Gain-
PTAR1-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTBP2-
-
-
-
1Loss-
PTBP3-
-
-
-
3Gain-
PTCD1-
-
-
-
1Loss-
PTCH1-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGDS-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGES-
-
-
-
1Loss-
PTGES2-
-
-
-
1Loss-
PTGES3-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGISp.R310H
Missense
SNP
0.183
3Gain-
PTGR1-
-
-
-
3Gain-
PTGR2-
-
-
-
1Loss-
PTGS1-
-
-
-
3Gain-
PTGS2-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTHLH-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTMS-
-
-
-
1Loss-
PTP4A2-
-
-
-
3Gain-
PTPA-
-
-
-
1Loss-
PTPDC1-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN6-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRC-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTPRT-
-
-
-
3Gain-
PTPRU-
-
-
-
3Gain-
PTPRZ1-
-
-
-
1Loss-
PTRH1-
-
-
-
1Loss-
PUM1-
-
-
-
3Gain-
PURB-
-
-
-
1Loss-
PUS1-
-
-
-
1Loss-
PUS7-
-
-
-
1Loss-
PUS7L-
-
-
-
1Loss-
PUSL1-
-
-
-
3Gain-
PVALB-
-
-
-
1Loss-
PVRIG-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PXDNLp.L1101F
Missense
SNP
0.237
2--
PXMP2-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PXN-
-
-
-
1Loss-
PYGL-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYM1-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QRFP-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QSOX1-
-
-
-
1Loss-
QSOX2-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
R3HDM2-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB11A-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB14-
-
-
-
3Gain-
RAB20-
-
-
-
6Amp-
RAB21-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB31-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB35-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB3IP-
-
-
-
1Loss-
RAB42-
-
-
-
3Gain-
RAB5B-
-
-
-
1Loss-
RAB5IF-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RAB8B-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGAP1L-
-
-
-
1Loss-
RABGEF1-
-
-
-
1Loss-
RABGGTA-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RABL6-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD23B-
-
-
-
3Gain-
RAD51-
-
-
-
1Loss-
RAD51AP1-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD52-
-
-
-
1Loss-
RAD9B-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
1Loss-
RALBP1-
-
-
-
1Loss-
RALGAPA1-
-
-
-
1Loss-
RALGAPB-
-
-
-
3Gain-
RALGDS-
-
-
-
1Loss-
RALGPS1-
-
-
-
1Loss-
RALGPS2-
-
-
-
1Loss-
RALY-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RAMP3-
-
-
-
1Loss-
RAN-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP6p.Q506K
Missense
SNP
0.274
2--
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
1Loss-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
5Amp-
RAPGEF1-
-
-
-
1Loss-
RAPGEF2-
-
-
-
1Loss-
RAPGEF3-
-
-
-
1Loss-
RAPGEF5-
-
-
-
1Loss-
RARG-
-
-
-
1Loss-
RASA3-
-
-
-
6Amp-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL1-
-
-
-
1Loss-
RASAL2-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL11A-
-
-
-
3Gain-
RASL12-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF3-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1-
-
-
-
5Amp-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
3Gain-
RBBP8-
-
-
-
1Loss-
RBBP8NL-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBL1-
-
-
-
3Gain-
RBM11-
-
-
-
1Loss-
RBM12-
-
-
-
3Gain-
RBM15-
-
-
-
1Loss-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM26-
-
-
-
5Amp-
RBM28-
-
-
-
1Loss-
RBM34-
-
-
-
1Loss-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM46-
-
-
-
1Loss-
RBM48-
-
-
-
1Loss-
RBMS2-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS2-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H1-
-
-
-
1Loss-
RC3H2-
-
-
-
3Gain-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
5Amp-
RCBTB2-
-
-
-
5Amp-
RCC1-
-
-
-
3Gain-
RCC1L-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECQL-
-
-
-
1Loss-
REELD1-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
REG4-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELN-
-
-
-
1Loss-
REM1-
-
-
-
3Gain-
REP15-
-
-
-
1Loss-
RER1-
-
-
-
3GainRNA5-8SN2--RER1
RERE-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO4-
-
-
-
1Loss-
RFC2-
-
-
-
1Loss-
RFC3-
-
-
-
5Amp-
RFC5-
-
-
-
1Loss-
RFK-
-
-
-
3Gain-
RFLNA-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX4-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RFXAP-
-
-
-
5Amp-
RGCC-
-
-
-
5Amp-
RGL1-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGMA-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
1Loss-
RGS13-
-
-
-
1Loss-
RGS16-
-
-
-
1Loss-
RGS18-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
1Loss-
RGS21-
-
-
-
1Loss-
RGS3-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS7-
-
-
-
1Loss-
RGS8-
-
-
-
1Loss-
RGSL1-
-
-
-
1Loss-
RHBDD2-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEBL1-
-
-
-
1Loss-
RHNO1-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RIBC2-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIC8B-
-
-
-
1Loss-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIMS4-
-
-
-
3Gain-
RINT1-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIPOR3-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RITA1-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMDN3-
-
-
-
1Loss-
RMI1-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--SNORA73A
RNA5-8SN2--LAPTM4A
RNA5-8SN2--RNF220
RNA5-8SN2--PABPC1
RNA5-8SN2--RER1
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RNASEH2B-
-
-
-
5Amp-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RNF10-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
5Amp-
RNF114-
-
-
-
3Gain-
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF133-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF149p.G75D
Missense
SNP
0.584
2--
RNF150-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
3Gain-
RNF175-
-
-
-
1Loss-
RNF183-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF2-
-
-
-
1Loss-
RNF20-
-
-
-
3Gain-
RNF207-
-
-
-
1Loss-
RNF208-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
5Amp-
RNF220-
-
-
-
2-RNA5-8SN2--RNF220
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF224-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF34-
-
-
-
1Loss-
RNF41-
-
-
-
1Loss-
RNF6-
-
-
-
3Gain-
RNFT2-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
RNPC3-
-
-
-
1Loss-
ROCK1-
-
-
-
1Loss-
ROGDIp.R157Q
Missense
SNP
0.477
2--
ROMO1-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
1Loss-
RORB-
-
-
-
3Gain-
RP9-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPAP3-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL11-
-
-
-
1Loss-
RPL12-
-
-
-
1Loss-
RPL14-
-
-
-
2-ATXN8OS--RPL14
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL21-
-
-
-
3Gain-
RPL22-
-
-
-
1Loss-
RPL23AP35-
-
-
-
NDNDRPL23AP35--RPL23AP64
RPL23AP64-
-
-
-
NDNDRPL23AP35--RPL23AP64
RPL26-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL35-
-
-
-
3Gain-
RPL36-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL4-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL7A-
-
-
-
1Loss-
RPL9P7-
-
-
-
NDNDRPL9P7--PLCG2
RPLP0-
-
-
-
1Loss-
RPLP1-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPN2-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS21-
-
-
-
3Gain-
RPS26-
-
-
-
1Loss-
RPS27L-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS6KA1-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RSBN1-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
1Loss-
RSRC2-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTCA-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
1Loss-
RTF2-
-
-
-
3Gain-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
5Amp-
RUNDC3B-
-
-
-
1Loss-
RUNX3-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP2-
-
-
-
3Gain-
RXRA-
-
-
-
1Loss-
RXYLT1-
-
-
-
1Loss-
RYR2-
-
-
-
1Loss-
RYR3-
-
-
-
1Loss-
S100B-
-
-
-
1Loss-
S1PR1-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR3-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACS-
-
-
-
3Gain-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD1-
-
-
-
1Loss-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
3Gain-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD9-
-
-
-
1Loss-
SAMD9L-
-
-
-
1Loss-
SAMHD1-
-
-
-
3Gain-
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP18-
-
-
-
3Gain-
SAP25-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAPCD2-
-
-
-
1Loss-
SARDH-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SARS-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SBDS-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBNO1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAF11-
-
-
-
1Loss-
SCAI-
-
-
-
3Gain-
SCAMP2-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCAPER-
-
-
-
1Loss-
SCARB1-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCCPDH-
-
-
-
1Loss-
SCEL-
-
-
-
5Amp-
SCFD1-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCLT1-
-
-
-
1Loss-
SCN8A-
-
-
-
1Loss-
SCNN1A-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRN1-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE1-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDC3-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCCAG8-
-
-
-
1Loss-
SDF2L1-
-
-
-
1Loss-
SDF4-
-
-
-
3Gain-
SDHAF3-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC16A-
-
-
-
1Loss-
SEC16B-
-
-
-
1Loss-
SEC22B-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
1Loss-
SECISBP2-
-
-
-
3Gain-
SECISBP2L-
-
-
-
1Loss-
SEH1L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOS-
-
-
-
1Loss-
SELPLG-
-
-
-
1Loss-
SEM1-
-
-
-
1Loss-
SEMA4B-
-
-
-
1Loss-
SEMA4D-
-
-
-
3Gain-
SEMA6B-
-
-
-
1Loss-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP1-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP7-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPT14-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC2-
-
-
-
3Gain-
SERINC3-
-
-
-
3Gain-
SERINC4-
-
-
-
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-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
1Loss-
SERPIND1-
-
-
-
1Loss-
SERPINE1-
-
-
-
1Loss-
SERPINE3-
-
-
-
5Amp-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTM1-
-
-
-
5Amp-
SESN2-
-
-
-
3Gain-
SET-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD1B-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETDB2-
-
-
-
5Amp-
SETX-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B4p.G399R
Missense
SNP
0.445
2--
SFI1-
-
-
-
1Loss-
SFN-
-
-
-
3Gain-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
1Loss-
SFSWAP-
-
-
-
1Loss-
SFTA3-
-
-
-
1Loss-
SGCE-
-
-
-
1Loss-
SGCG-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGMS2-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2B2-
-
-
-
1Loss-
SH2B3-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH2D3C-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP5L-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL3-
-
-
-
1Loss-
SH3GLB2-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHC3-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1L-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHF-
-
-
-
1Loss-
SHISA2-
-
-
-
3Gain-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAH3-
-
-
-
5Amp-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIKE1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT4-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
3Gain-
SKAP2-
-
-
-
1Loss-
SKI-
-
-
-
3Gain-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SLA2-
-
-
-
3Gain-
SLAIN1-
-
-
-
5Amp-
SLC10A1-
-
-
-
1Loss-
SLC10A2-
-
-
-
5Amp-
SLC10A7-
-
-
-
1Loss-
SLC11A2-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A6-
-
-
-
1Loss-
SLC12A9-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A3-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
5Amp-
SLC15A4-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC16A7-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC17A6-
-
-
-
1Loss-
SLC17A8-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC1A6-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC24A1-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A1-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A13-
-
-
-
1Loss-
SLC25A15-
-
-
-
5Amp-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A24-
-
-
-
1Loss-
SLC25A25-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A30-
-
-
-
5Amp-
SLC25A31-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A40-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC26A3-
-
-
-
1Loss-
SLC26A4-
-
-
-
1Loss-
SLC26A5-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC27A2-
-
-
-
1Loss-
SLC27A4-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC28A3-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A11-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A14-
-
-
-
1Loss-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
1Loss-
SLC2A6-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC2A8-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC34A3-
-
-
-
1Loss-
SLC35A3-
-
-
-
1Loss-
SLC35C2-
-
-
-
3Gain-
SLC35D2-
-
-
-
3Gain-
SLC35E1-
-
-
-
1Loss-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E3-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F3-
-
-
-
1Loss-
SLC35G4-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC38A1-
-
-
-
1Loss-
SLC38A2-
-
-
-
1Loss-
SLC38A4-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A5-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC41A2-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
3Gain-
SLC44A2-
-
-
-
1Loss-
SLC44A3-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC46A2-
-
-
-
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC4A8-
-
-
-
1Loss-
SLC51B-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC5A8-
-
-
-
1Loss-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC7A1-
-
-
-
3Gain-
SLC7A11-
-
-
-
1Loss-
SLC7A4-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A1-
-
-
-
3Gain-
SLC9A8-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLIRP-
-
-
-
1Loss-
SLITRK1-
-
-
-
6Amp-
SLITRK5-
-
-
-
6Amp-
SLITRK6-
-
-
-
6Amp-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
1Loss-
SMAD1-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
5Amp-
SMAGP-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCA5-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMC2-
-
-
-
3Gain-
SMC5-
-
-
-
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMG7-
-
-
-
1Loss-
SMIM2-
-
-
-
5Amp-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM30-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPDL3B-
-
-
-
3Gain-
SMTN-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMUG1-
-
-
-
1Loss-
SMURF1-
-
-
-
1Loss-
SMYD3-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAP23-
-
-
-
1Loss-
SNAP29-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPC4-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNCA-
-
-
-
1Loss-
SND1-
-
-
-
1Loss-
SNORA73A-
-
-
-
NDNDRNA5-8SN2--SNORA73A
SNRNP35-
-
-
-
1Loss-
SNRNP40-
-
-
-
3Gain-
SNRPA1-
-
-
-
1Loss-
SNRPD1-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNU13-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX10-
-
-
-
1Loss-
SNX13-
-
-
-
3Gain-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX29p.V357L
Missense
SNP
0.480
2--
SNX30-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX7-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
1Loss-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SOHLH1-
-
-
-
1Loss-
SOHLH2-
-
-
-
5Amp-
SORBS2-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOX1-
-
-
-
6Amp-
SOX10-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX18-
-
-
-
3Gain-
SOX21-
-
-
-
5Amp-
SOX5-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP4-
-
-
-
1Loss-
SP7-
-
-
-
1Loss-
SP8-
-
-
-
3Gain-
SPACA7-
-
-
-
6Amp-
SPACA9-
-
-
-
1Loss-
SPAG17-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAM1-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
5Amp-
SPATA13-
-
-
-
3Gain-
SPATA2-
-
-
-
3Gain-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
1Loss-
SPATA5-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATS2-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDYE3-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
5Amp-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPIC-
-
-
-
1Loss-
SPIN1-
-
-
-
3Gain-
SPINT1-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
3Gain-
SPOCK3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPOUT1-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRY1-
-
-
-
1Loss-
SPRY2-
-
-
-
5Amp-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPRYD7-
-
-
-
5Amp-
SPSB1-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPTAN1-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC1-
-
-
-
3Gain-
SPTLC2-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SPX-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRC-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGAP2C-
-
-
-
1Loss-
SRI-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRPK2-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM3-
-
-
-
1Loss-
SRRM4-
-
-
-
1Loss-
SRRT-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF4-
-
-
-
3Gain-
SRSF5-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF9-
-
-
-
1Loss-
SS18-
-
-
-
1Loss-
SS18L1-
-
-
-
3Gain-
SSBP4-
-
-
-
1Loss-
SSC4D-
-
-
-
1Loss-
SSH1-
-
-
-
1Loss-
SSMEM1-
-
-
-
1Loss-
SSNA1-
-
-
-
1Loss-
SSPN-
-
-
-
1Loss-
SSTR1-
-
-
-
1Loss-
SSTR3-
-
-
-
1Loss-
SSU72-
-
-
-
3Gain-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSU72P8-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GALNAC4-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
1Loss-
ST7-
-
-
-
1Loss-
ST7L-
-
-
-
1Loss-
ST8SIA1-
-
-
-
1Loss-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAG3-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD13-
-
-
-
3Gain-
STARD3NL-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAT2-
-
-
-
1Loss-
STAT6-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STEAP1-
-
-
-
1Loss-
STEAP1B-
-
-
-
1Loss-
STEAP2-
-
-
-
1Loss-
STEAP4-
-
-
-
1Loss-
STIM1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
1Loss-
STK24-
-
-
-
5Amp-
STK31-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK38L-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STKLD1-
-
-
-
1Loss-
STMN1-
-
-
-
1Loss-
STMN3-
-
-
-
3Gain-
STOM-
-
-
-
3Gain-
STOML1-
-
-
-
1Loss-
STOML3-
-
-
-
5Amp-
STON2-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STPG3-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRAP-
-
-
-
1Loss-
STRBP-
-
-
-
3Gain-
STRC-
-
-
-
1Loss-
STRIP1-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX12-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX17-
-
-
-
3Gain-
STX1A-
-
-
-
1Loss-
STX2-
-
-
-
1Loss-
STX6-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP3-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
STYXL1-
-
-
-
1Loss-
SUCLA2-
-
-
-
5Amp-
SUDS3-
-
-
-
1Loss-
SUGCT-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SUGT1-
-
-
-
5Amp-
SULF2-
-
-
-
3Gain-
SULT4A1-
-
-
-
1Loss-
SUMF2-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
1Loss-
SUN3-
-
-
-
1Loss-
SUN5-
-
-
-
3Gain-
SUOX-
-
-
-
1Loss-
SUPT20H-
-
-
-
5Amp-
SURF1-
-
-
-
1Loss-
SURF2-
-
-
-
1Loss-
SURF4-
-
-
-
1Loss-
SURF6-
-
-
-
1Loss-
SUSD1-
-
-
-
3Gain-
SUSD2-
-
-
-
1Loss-
SUSD3-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SV2B-
-
-
-
1Loss-
SVEP1-
-
-
-
3Gain-
SVIP-
-
-
-
1Loss-
SVOP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWI5-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SWT1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCP1-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYCP3-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYN3-
-
-
-
1Loss-
SYNC-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL1-
-
-
-
1Loss-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT6-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
3Gain-
SZRD1-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TAC1-
-
-
-
1Loss-
TAC3-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF12-
-
-
-
3Gain-
TAF13-
-
-
-
1Loss-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
1Loss-
TAF6-
-
-
-
1Loss-
TAL2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TAOK3-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TARBP1-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TARDBP-
-
-
-
1Loss-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
1Loss-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TAX1BP1-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D13-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D21-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D23-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D4-
-
-
-
5Amp-
TBC1D9-
-
-
-
1Loss-
TBCE-
-
-
-
1Loss-
TBCK-
-
-
-
1Loss-
TBK1-
-
-
-
1Loss-
TBL2-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG4-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX15-
-
-
-
1Loss-
TBX20-
-
-
-
1Loss-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF20-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHP-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDRD3-
-
-
-
4Gain-
TDRD5-
-
-
-
1Loss-
TDRD7-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEAD4-
-
-
-
1Loss-
TECPR1-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDDM1-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENM2-
-
-
-
3Gain-
TENM3-
-
-
-
1Loss-
TENT5B-
-
-
-
3Gain-
TENT5C-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TES-
-
-
-
1Loss-
TESC-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TET2-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
6Amp-
TEX30-
-
-
-
5Amp-
TEX33-
-
-
-
1Loss-
TEX35-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX47-
-
-
-
1Loss-
TEX48-
-
-
-
3Gain-
TEX49-
-
-
-
1Loss-
TEX52-
-
-
-
1Loss-
TEX9-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFB2M-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFDP1-
-
-
-
6Amp-
TFEC-
-
-
-
1Loss-
TFG-
-
-
-
1Loss-
TFIP11-
-
-
-
1Loss-
TFPI2-
-
-
-
1Loss-
TFR2-
-
-
-
1Loss-
TGDS-
-
-
-
5Amp-
TGFB3-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR3-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGIF1-
-
-
-
1Loss-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM2-
-
-
-
3Gain-
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP10-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP5-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THBDp.L331Q
Missense
SNP
0.996
2--
THBS1-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEMIS2-
-
-
-
3Gain-
THOC5-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THSD1-
-
-
-
5Amp-
THSD4-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THTPA-
-
-
-
1Loss-
TIAM2p.P1546S
Missense
SNP
0.535
2--
TICAM1-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIMD4p.T29M
Missense
SNP
0.169
2--
TIMELESS-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TINAGL1-
-
-
-
3Gain-
TINF2-
-
-
-
1Loss-
TIPIN-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TJP2-
-
-
-
3Gain-
TJP3-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE1-
-
-
-
3Gain-
TLE2-
-
-
-
1Loss-
TLE3-
-
-
-
1Loss-
TLE4-
-
-
-
3Gain-
TLE6-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR4-
-
-
-
3Gain-
TM2D3-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
5Amp-
TM9SF4-
-
-
-
3Gain-
TMA16-
-
-
-
1Loss-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMC1-
-
-
-
3Gain-
TMC3-
-
-
-
1Loss-
TMCC3-
-
-
-
1Loss-
TMCO3-
-
-
-
6Amp-
TMCO4-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMED4-
-
-
-
1Loss-
TMED5-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM120A-
-
-
-
1Loss-
TMEM120B-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM130-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132D-
-
-
-
1Loss-
TMEM141-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM168-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
1Loss-
TMEM184C-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
1Loss-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM200B-
-
-
-
3Gain-
TMEM200C-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM203-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM209-
-
-
-
1Loss-
TMEM210-
-
-
-
1Loss-
TMEM211-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM222-
-
-
-
3Gain-
TMEM225B-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM234-
-
-
-
3Gain-
TMEM240-
-
-
-
3Gain-
TMEM241-
-
-
-
1Loss-
TMEM243-
-
-
-
1Loss-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM248-
-
-
-
1Loss-
TMEM250-
-
-
-
1Loss-
TMEM252-
-
-
-
3Gain-
TMEM253-
-
-
-
1Loss-
TMEM255B-
-
-
-
6Amp-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM262p.S72P
Missense
SNP
0.629
2--
TMEM263-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM268-
-
-
-
3Gain-
TMEM270-
-
-
-
1Loss-
TMEM272-
-
-
-
5Amp-
TMEM38A-
-
-
-
1Loss-
TMEM38B-
-
-
-
3Gain-
TMEM39B-
-
-
-
3Gain-
TMEM41B-
-
-
-
1Loss-
TMEM45A-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
3Gain-
TMEM52B-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM62-
-
-
-
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM82-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMIGD3-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPO-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMTC4-
-
-
-
5Amp-
TMX1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNC-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF14-
-
-
-
3Gain-
TNFRSF18-
-
-
-
3Gain-
TNFRSF19-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF21p.T537M
Missense
SNP
0.440
2--
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF11-
-
-
-
5Amp-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
6Amp-
TNFSF14-
-
-
-
1Loss-
TNFSF15-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNFSF9-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNN-
-
-
-
1Loss-
TNNC2-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNPO3-
-
-
-
1Loss-
TNR-
-
-
-
1Loss-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TNS2-
-
-
-
1Loss-
TNS3-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOB2-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM7-
-
-
-
1Loss-
TOMM70-
-
-
-
1Loss-
TOP1-
-
-
-
3Gain-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOR1A-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
1Loss-
TOR1AIP2-
-
-
-
1Loss-
TOR1B-
-
-
-
1Loss-
TOR2A-
-
-
-
1Loss-
TOR3A-
-
-
-
1Loss-
TOR4A-
-
-
-
1Loss-
TOX2-
-
-
-
3Gain-
TP53p.Y220C
Missense
SNP
1.000
1Loss-
TP53BP1-
-
-
-
1Loss-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TPCN1-
-
-
-
1Loss-
TPD52L2-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPM1-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
5Amp-
TPR-
-
-
-
1Loss-
TPRN-
-
-
-
1Loss-
TPST1-
-
-
-
1Loss-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
5Amp-
TPTE-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TPX2-
-
-
-
3Gain-
TRA2A-
-
-
-
1Loss-
TRABD-
-
-
-
1Loss-
TRAF1-
-
-
-
3Gain-
TRAF2-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAFD1-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TRHDE-
-
-
-
1Loss-
TRIAP1-
-
-
-
1Loss-
TRIL-
-
-
-
1Loss-
TRIM13-
-
-
-
5Amp-
TRIM14-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM32-
-
-
-
3Gain-
TRIM33-
-
-
-
1Loss-
TRIM4-
-
-
-
1Loss-
TRIM45-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM50-
-
-
-
1Loss-
TRIM56-
-
-
-
1Loss-
TRIM58-
-
-
-
1Loss-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM73-
-
-
-
1Loss-
TRIM74-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIP4-
-
-
-
1Loss-
TRIP6-
-
-
-
1Loss-
TRIR-
-
-
-
1Loss-
TRMO-
-
-
-
3Gain-
TRMT1-
-
-
-
1Loss-
TRMT10A-
-
-
-
1Loss-
TRMT13-
-
-
-
1Loss-
TRMT1L-
-
-
-
1Loss-
TRMT2A-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
3Gain-
TRNP1-
-
-
-
3Gain-
TROAP-
-
-
-
1Loss-
TROVE2-
-
-
-
1Loss-
TRPC3-
-
-
-
1Loss-
TRPC4-
-
-
-
5Amp-
TRPC4AP-
-
-
-
3Gain-
TRPC5p.I157F
Missense
SNP
0.521
NDND-
TRPM1-
-
-
-
1Loss-
TRPM3-
-
-
-
3Gain-
TRPM5-
-
-
-
1Loss-
TRPM6-
-
-
-
3Gain-
TRPM7-
-
-
-
1Loss-
TRPS1p.E771D
Missense
SNP
0.399
2--
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TRRAP-
-
-
-
1Loss-
TRUB2-
-
-
-
1Loss-
TSC1-
-
-
-
1Loss-
TSC22D1-
-
-
-
5Amp-
TSC22D4-
-
-
-
1Loss-
TSEN15-
-
-
-
1Loss-
TSFM-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSGA13-
-
-
-
1Loss-
TSHB-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN12-
-
-
-
1Loss-
TSPAN13-
-
-
-
3Gain-
TSPAN16-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPAN8-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TSSK3-
-
-
-
3Gain-
TSSK4-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTD2-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC16-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC28-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC34-
-
-
-
3Gain-
TTC38-
-
-
-
1Loss-
TTC39C-
-
-
-
0Del-
TTC6-
-
-
-
1Loss-
TTF1-
-
-
-
1Loss-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
3Gain-
TTLL1-
-
-
-
1Loss-
TTLL10-
-
-
-
3Gain-
TTLL11-
-
-
-
3Gain-
TTLL12-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTLL9-
-
-
-
3Gain-
TTNp.K4802T
Missense
SNP
0.283
2--
TTPAL-
-
-
-
3Gain-
TTR-
-
-
-
1Loss-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBB1-
-
-
-
3Gain-
TUBB4A-
-
-
-
1Loss-
TUBB4B-
-
-
-
1Loss-
TUBB6-
-
-
-
1Loss-
TUBGCP3-
-
-
-
6Amp-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TULP3-
-
-
-
1Loss-
TUT7-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TWSG1-
-
-
-
1Loss-
TXLNA-
-
-
-
3Gain-
TXN-
-
-
-
3Gain-
TXN2-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD1-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYMS-
-
-
-
1Loss-
TYRO3-
-
-
-
1Loss-
TYW1-
-
-
-
1Loss-
TYW1B-
-
-
-
1Loss-
UACA-
-
-
-
1Loss-
UAP1L1-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBAC1-
-
-
-
1Loss-
UBAC2-
-
-
-
5Amp-
UBAP1L-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
1Loss-
UBE2J2-
-
-
-
3Gain-
UBE2L3-
-
-
-
1Loss-
UBE2L5-
-
-
-
3Gain-
UBE2N-
-
-
-
1Loss-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2V1-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3B-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
3Gain-
UBL4B-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UCHL3-
-
-
-
5Amp-
UCHL5-
-
-
-
1Loss-
UCK1-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UCP1-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFM1-
-
-
-
5Amp-
UFSP1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGCG-
-
-
-
3Gain-
UGGT2-
-
-
-
5Amp-
UGT8-
-
-
-
1Loss-
UHRF1-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UNC119B-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC45A-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF3A-
-
-
-
6Amp-
UPK3A-
-
-
-
1Loss-
UPK3B-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
1Loss-
UQCC1-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
URAD-
-
-
-
3Gain-
URGCP-
-
-
-
1Loss-
URGCP-MRPS24-
-
-
-
1Loss-
URM1-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USHBP1-
-
-
-
1Loss-
USP12-
-
-
-
3Gain-
USP15-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP20-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP3-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
USPL1-
-
-
-
3Gain-
UTP14C-
-
-
-
5Amp-
UTP20-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VANGL1-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VAV1-
-
-
-
1Loss-
VAV2-
-
-
-
1Loss-
VAV3-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VDR-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VGF-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VKORC1L1-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VOPP1-
-
-
-
1Loss-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13A-
-
-
-
3Gain-
VPS13C-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS18-
-
-
-
1Loss-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS33B-
-
-
-
1Loss-
VPS36-
-
-
-
5Amp-
VPS37B-
-
-
-
1Loss-
VPS37D-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS50-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSTM2A-
-
-
-
1Loss-
VSTM2L-
-
-
-
3Gain-
VSX2-
-
-
-
1Loss-
VTCN1-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA1-
-
-
-
3Gain-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
5Amp-
VWC2-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
3Gain-
WASF3-
-
-
-
3Gain-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASL-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WBP4-
-
-
-
5Amp-
WDFY2-
-
-
-
5Amp-
WDHD1-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR3-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR34-
-
-
-
1Loss-
WDR38-
-
-
-
3Gain-
WDR47-
-
-
-
1Loss-
WDR5-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR64-
-
-
-
1Loss-
WDR66-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR77-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR93-
-
-
-
1Loss-
WDTC1-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WHAMM-
-
-
-
1Loss-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WIPF3-
-
-
-
1Loss-
WIPI2-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNK1-
-
-
-
1Loss-
WNK2-
-
-
-
3Gain-
WNT1-
-
-
-
1Loss-
WNT10B-
-
-
-
1Loss-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT2B-
-
-
-
1Loss-
WNT4-
-
-
-
1Loss-
WNT5B-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WSB2-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XKR3-
-
-
-
1Loss-
XKR7-
-
-
-
3Gain-
XKR8-
-
-
-
3Gain-
XPA-
-
-
-
3Gain-
XPNPEP3-
-
-
-
1Loss-
XPO4-
-
-
-
3Gain-
XPOT-
-
-
-
1Loss-
XPR1-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
YAE1-
-
-
-
1Loss-
YAF2-
-
-
-
1Loss-
YARS-
-
-
-
3Gain-
YARS2-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YES1-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YPEL1-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZANp.V2363I
Missense
SNP
0.351
1Loss-
ZAR1L-
-
-
-
3Gain-
ZBED4-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBP1-
-
-
-
3Gain-
ZBTB14-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB18-
-
-
-
1Loss-
ZBTB26-
-
-
-
3Gain-
ZBTB34-
-
-
-
1Loss-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB41-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB43-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB48-
-
-
-
1Loss-
ZBTB6-
-
-
-
3Gain-
ZBTB7A-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
3Gain-
ZBTB8B-
-
-
-
3Gain-
ZBTB8OS-
-
-
-
3Gain-
ZC3H10-
-
-
-
1Loss-
ZC3H13-
-
-
-
5Amp-
ZC3H14-
-
-
-
1Loss-
ZC3H3p.W394F
Missense
DNP
0.421
2--
ZC3H7B-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCCHC17-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC8-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZCWPW1-
-
-
-
1Loss-
ZDHHC12-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC18-
-
-
-
3Gain-
ZDHHC20-
-
-
-
3Gain-
ZDHHC22-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC8-
-
-
-
1Loss-
ZER1-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND5-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFATp.G504A
Missense
SNP
0.514
2--
ZFC3H1-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP37-
-
-
-
3Gain-
ZFP42-
-
-
-
1Loss-
ZFP64-
-
-
-
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZHX3-
-
-
-
3Gain-
ZIC2-
-
-
-
5Amp-
ZIC5-
-
-
-
5Amp-
ZKSCAN1-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMIZ2-
-
-
-
1Loss-
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZMYND19-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF10-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF12-
-
-
-
3Gain-
ZNF121-
-
-
-
1Loss-
ZNF124-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF138-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF140-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF169-
-
-
-
3Gain-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF189-
-
-
-
3Gain-
ZNF195-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF208p.G1025E
Missense
SNP
0.391
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
ZNF219-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF26-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF273-
-
-
-
1Loss-
ZNF277-
-
-
-
1Loss-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF280D-
-
-
-
1Loss-
ZNF281-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF3-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF317-
-
-
-
1Loss-
ZNF318p.V1522L
Missense
SNP
0.488
2--
ZNF326-
-
-
-
1Loss-
ZNF330-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF358-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF384-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF394-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF436-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF462-
-
-
-
3Gain-
ZNF479-
-
-
-
1Loss-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF512B-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF519-
-
-
-
1Loss-
ZNF521-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
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-
1Loss-
ZNF556-
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1Loss-
ZNF557-
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1Loss-
ZNF558-
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1Loss-
ZNF559-
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1Loss-
ZNF559-ZNF177-
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1Loss-
ZNF560-
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1Loss-
ZNF561-
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1Loss-
ZNF562-
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1Loss-
ZNF563-
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1Loss-
ZNF564-
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1Loss-
ZNF57-
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1Loss-
ZNF592-
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1Loss-
ZNF594-
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1Loss-
ZNF605-
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-
1Loss-
ZNF609-
-
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-
1Loss-
ZNF618-
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-
3Gain-
ZNF624-
-
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-
1Loss-
ZNF625-
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-
1Loss-
ZNF625-ZNF20-
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1Loss-
ZNF626-
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1Loss-
ZNF627-
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1Loss-
ZNF641-
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1Loss-
ZNF644-
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1Loss-
ZNF648-
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1Loss-
ZNF653-
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1Loss-
ZNF655-
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-
1Loss-
ZNF658-
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3Gain-
ZNF66-
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1Loss-
ZNF664-
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1Loss-
ZNF669-
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1Loss-
ZNF670-
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-
1Loss-
ZNF670-ZNF695-
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-
1Loss-
ZNF672-
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-
1Loss-
ZNF675-
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-
1Loss-
ZNF676-
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1Loss-
ZNF679-
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-
1Loss-
ZNF680-
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-
1Loss-
ZNF681-
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-
1Loss-
ZNF682-
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-
1Loss-
ZNF69-
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1Loss-
ZNF692-
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1Loss-
ZNF695-
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1Loss-
ZNF697-
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1Loss-
ZNF699-
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1Loss-
ZNF70-
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1Loss-
ZNF700-
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1Loss-
ZNF705A-
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-
1Loss-
ZNF708-
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-
1Loss-
ZNF709-
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1Loss-
ZNF710-
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1Loss-
ZNF713-
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1Loss-
ZNF714-
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1Loss-
ZNF716-
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1Loss-
ZNF723-
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1Loss-
ZNF724-
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1Loss-
ZNF726-
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1Loss-
ZNF727-
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1Loss-
ZNF728-
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1Loss-
ZNF729-
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1Loss-
ZNF730-
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1Loss-
ZNF735-
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1Loss-
ZNF736-
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1Loss-
ZNF737-
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1Loss-
ZNF738-
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1Loss-
ZNF74-
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1Loss-
ZNF740-
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1Loss-
ZNF763-
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1Loss-
ZNF77-
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1Loss-
ZNF770-
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1Loss-
ZNF774-
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1Loss-
ZNF782-
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3Gain-
ZNF789-
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-
1Loss-
ZNF79-
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1Loss-
ZNF791-
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1Loss-
ZNF799-
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1Loss-
ZNF800-
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-
1Loss-
ZNF804B-
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-
1Loss-
ZNF823-
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1Loss-
ZNF827-
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-
1Loss-
ZNF831-
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3Gain-
ZNF839-
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1Loss-
ZNF84-
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1Loss-
ZNF844-
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1Loss-
ZNF846-
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1Loss-
ZNF85-
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-
1Loss-
ZNF853-
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3Gain-
ZNF878-
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-
1Loss-
ZNF883-
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-
3Gain-
ZNF891-
-
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-
1Loss-
ZNF90-
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-
1Loss-
ZNF91-
-
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-
1Loss-
ZNF92-
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1Loss-
ZNF93-
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-
1Loss-
ZNF98-
-
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-
1Loss-
ZNF99-
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-
1Loss-
ZNFX1-
-
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-
3Gain-
ZNHIT1-
-
-
-
1Loss-
ZNRF2-
-
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-
1Loss-
ZNRF3-
-
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-
1Loss-
ZNRF4-
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-
1Loss-
ZP3-
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-
-
1Loss-
ZP4-
-
-
-
1Loss-
ZPBP-
-
-
-
1Loss-
ZSCAN2-
-
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-
1Loss-
ZSCAN21-
-
-
-
1Loss-
ZSCAN25-
-
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-
1Loss-
ZSCAN29-
-
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-
1Loss-
ZSCAN30-
-
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-
1Loss-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
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-
3Gain-
ZSWIM4-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-