PDMR-952719~076-R~P56-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A1CF-
-
-
-
1Loss-
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AAGAB-
-
-
-
3Gain-
AAMDC-
-
-
-
3Gain-
AAMP-
-
-
-
1Loss-
AANAT-
-
-
-
3Gain-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
4Gain-
AARS-
-
-
-
1Loss-
AARSD1-
-
-
-
3Gain-
AASDH-
-
-
-
0Del-
AASDHPPT-
-
-
-
3Gain-
AASS-
-
-
-
1Loss-
AATF-
-
-
-
3Gain-
AATK-
-
-
-
3Gain-
ABAT-
-
-
-
1Loss-
ABCA1-
-
-
-
3Gain-
ABCA10-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
1Loss-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB1-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCB4-
-
-
-
1Loss-
ABCB5p.Q818K
Missense
SNP
1.000
1Loss-
ABCB6-
-
-
-
1Loss-
ABCB8-
-
-
-
1Loss-
ABCB9-
-
-
-
3Gain-
ABCC1-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC3-
-
-
-
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
0Del-
ABCC6-
-
-
-
1Loss-
ABCC8-
-
-
-
1Loss-
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCD4-
-
-
-
1Loss-
ABCF2-
-
-
-
1Loss-
ABCF3-
-
-
-
0Del-
ABCG1-
-
-
-
3Gain-
ABCG4-
-
-
-
3Gain-
ABHD11-
-
-
-
1Loss-
ABHD12-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABI2-
-
-
-
1Loss-
ABI3-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
4Gain-
ABRAXAS2-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC000120.2-
-
-
-
1Loss-
AC000120.3-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC002094.3-
-
-
-
3Gain-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC002985.1-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
1Loss-
AC004593.3-
-
-
-
1Loss-
AC004687.2-
-
-
-
3Gain-
AC004691.2-
-
-
-
1Loss-
AC004805.1-
-
-
-
3Gain-
AC004832.3-
-
-
-
1Loss-
AC004922.1-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005020.2-
-
-
-
1Loss-
AC005041.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
3Gain-
AC005324.4-
-
-
-
3Gain-
AC005520.1-
-
-
-
1Loss-
AC005670.2-
-
-
-
3Gain-
AC005697.1-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC005779.2-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC005837.2-
-
-
-
3Gain-
AC005943.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007375.1-
-
-
-
1Loss-
AC007731.5-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
6Amp-
AC008012.1-
-
-
-
1Loss-
AC008397.2-
-
-
-
3Gain-
AC008403.1-
-
-
-
1Loss-
AC008481.3-
-
-
-
3Gain-
AC008537.1-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008763.2-
-
-
-
3Gain-
AC008763.3-
-
-
-
3Gain-
AC008764.1-
-
-
-
3Gain-
AC008764.4-
-
-
-
3Gain-
AC008770.1-
-
-
-
3Gain-
AC008770.2-
-
-
-
3Gain-
AC008878.1-
-
-
-
3Gain-
AC008878.2-
-
-
-
3Gain-
AC008878.3-
-
-
-
3Gain-
AC008982.1-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
5Amp-
AC009690.3-
-
-
-
5Amp-
AC009879.2-
-
-
-
5Amp-
AC009879.3-
-
-
-
5Amp-
AC010132.3-
-
-
-
1Loss-
AC010197.2-
-
-
-
3Gain-
AC010319.2-
-
-
-
3Gain-
AC010323.1-
-
-
-
5Amp-
AC010327.1-
-
-
-
1Loss-
AC010463.1-
-
-
-
3Gain-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
3Gain-
AC011005.1-
-
-
-
1Loss-
AC011195.2-
-
-
-
3Gain-
AC011330.3-
-
-
-
3Gain-
AC011448.1-
-
-
-
3Gain-
AC011452.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
5Amp-
AC011511.4-
-
-
-
5Amp-
AC011530.1-
-
-
-
1Loss-
AC011604.2-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
4Gain-
AC012254.2-
-
-
-
6Amp-
AC012309.1-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
3Gain-
AC012651.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC015688.4-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
3Gain-
AC018523.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC019117.2-
-
-
-
1Loss-
AC020907.6-
-
-
-
1Loss-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC020922.1-
-
-
-
1Loss-
AC021097.2-
-
-
-
1Loss-
AC021097.3-
-
-
-
1Loss-
AC022335.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
3Gain-
AC022400.6-
-
-
-
1Loss-
AC022826.2-
-
-
-
5Amp-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC024592.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC025287.4-
-
-
-
1Loss-
AC026316.5-
-
-
-
0Del-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026786.1-
-
-
-
3Gain-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
6Amp-
AC037459.1-
-
-
-
3Gain-
AC040162.1-
-
-
-
1Loss-
AC046185.1-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
3Gain-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068234.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
1Loss-
AC068547.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068631.2-
-
-
-
0Del-
AC068775.1-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069257.3-
-
-
-
0Del-
AC069368.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
1Loss-
AC073508.2-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
3Gain-
AC079447.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087289.3-
-
-
-
3Gain-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
6Amp-
AC090360.1-
-
-
-
6Amp-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
3Gain-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
6Amp-
AC092017.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC092647.5-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093155.3-
-
-
-
3Gain-
AC093227.2-
-
-
-
1Loss-
AC093423.3-
-
-
-
3Gain-
AC093512.2-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC097104.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
1Loss-
AC098484.3-
-
-
-
3Gain-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
3Gain-
AC099489.1-
-
-
-
1Loss-
AC099811.2-
-
-
-
3Gain-
AC099850.2-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC104151.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC106886.5-
-
-
-
1Loss-
AC107871.1-
-
-
-
3Gain-
AC107959.5-
-
-
-
3Gain-
AC108488.2-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC112229.3-
-
-
-
1Loss-
AC113554.1-
-
-
-
3Gain-
AC115220.1-
-
-
-
1Loss-
AC117378.1-
-
-
-
3Gain-
AC117457.1-
-
-
-
0Del-
AC118470.1-
-
-
-
5Amp-
AC118549.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
3Gain-
AC119674.2-
-
-
-
3Gain-
AC120057.2-
-
-
-
1Loss-
AC120114.4-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
0Del-
AC134669.1-
-
-
-
3Gain-
AC134980.3-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC137834.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
1Loss-
AC138696.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC139530.2-
-
-
-
3Gain-
AC140504.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243967.1-
-
-
-
1Loss-
AC245033.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
6Amp-
ACACA-
-
-
-
3Gain-
ACACBp.E694*
Nonsense
SNP
0.526
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD8-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACADM-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
0Del-
ACAP3-
-
-
-
3Gain-
ACAT1-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD4-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACE-
-
-
-
3Gain-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
3Gain-
ACER3-
-
-
-
3Gain-
ACHE-
-
-
-
1Loss-
ACIN1-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACLY-
-
-
-
3Gain-
ACMSD-
-
-
-
1Loss-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT11-
-
-
-
3Gain-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT7-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACOX1-
-
-
-
3Gain-
ACOX2-
-
-
-
1Loss-
ACOXL-
-
-
-
1Loss-
ACP1-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACP7-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACRV1-
-
-
-
3Gain-
ACSBG1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF2-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2A-
-
-
-
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTA2p.T188S
Missense
SNP
0.988
1Loss-
ACTB-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTG1-
-
-
-
3Gain-
ACTL10-
-
-
-
3Gain-
ACTL6A-
-
-
-
0Del-
ACTL6B-
-
-
-
1Loss-
ACTL7Ap.P236H
Missense
SNP
0.530
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
5Amp-
ACTN1-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
3Gain-
ACTN4-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR1B-
-
-
-
3Gain-
ACTR3-
-
-
-
1Loss-
ACTR3B-
-
-
-
1Loss-
ACTR3C-
-
-
-
1Loss-
ACTR5-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ACTRT2-
-
-
-
3Gain-
ACTRT3-
-
-
-
0Del-
ACVR1p.E24D
Missense
SNP
0.192
1Loss-
ACVR1B-
-
-
-
3Gain-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACVRL1-
-
-
-
3Gain-
ACY3-
-
-
-
3Gain-
ACYP1-
-
-
-
1Loss-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADA2-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
3Gain-
ADAM11-
-
-
-
3Gain-
ADAM12-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
1Loss-
ADAM19p.G400C
Missense
SNP
1.000
2--
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM22-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM28-
-
-
-
3Gain-
ADAM30-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS1-
-
-
-
3Gain-
ADAMTS10-
-
-
-
5Amp-
ADAMTS12p.X885_splice
Splice_Site
SNP
0.343
5Amp-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
3Gain-
ADAMTS16-
-
-
-
5Amp-
ADAMTS17-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS20p.N220K
Missense
SNP
0.520
3Gain-
ADAMTS4-
-
-
-
3Gain-
ADAMTS5-
-
-
-
3Gain-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
3Gain-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL2p.L75V
Missense
SNP
0.651
2--
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
1Loss-
ADAP2-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB1-
-
-
-
3Gain-
ADARB2-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK2-
-
-
-
1Loss-
ADCY1-
-
-
-
1Loss-
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
5Amp-
ADCY4-
-
-
-
1Loss-
ADCY6-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADCY8p.V436F
Missense
SNP
1.000
3Gain-
ADCY9-
-
-
-
0Del-
ADCYAP1-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRA3p.L1301F
Missense
SNP
0.236
2--
ADGRB1p.Q560H
Missense
SNP
0.980
1Loss-
ADGRB2-
-
-
-
1Loss-
ADGRD1-
-
-
-
3Gain-
ADGRD2p.G950V
Missense
SNP
0.509
3Gain-
ADGRE1-
-
-
-
3Gain-
ADGRE2-
-
-
-
3Gain-
ADGRE3-
-
-
-
3Gain-
ADGRE5-
-
-
-
3Gain-
ADGRF1p.S871C
Missense
SNP
1.000
2--
ADGRG1-
-
-
-
3Gain-
ADGRG3-
-
-
-
3Gain-
ADGRG4p.G711C
Missense
SNP
1.000
NDND-
ADGRG5-
-
-
-
3Gain-
ADGRL1-
-
-
-
3Gain-
ADGRL2-
-
-
-
3Gain-
ADGRL4-
-
-
-
3Gain-
ADGRV1p.D3381H
Missense
SNP
1.000
2--
ADHFE1-
-
-
-
5Amp-
ADI1-
-
-
-
1Loss-
ADIG-
-
-
-
3Gain-
ADIPOQ-
-
-
-
0Del-
ADIPOR1-
-
-
-
1Loss-
ADIPOR2-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM5-
-
-
-
1Loss-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
6Amp-
ADO-
-
-
-
1Loss-
ADORA1-
-
-
-
1Loss-
ADORA2A-
-
-
-
3Gain-
ADORA2B-
-
-
-
3Gain-
ADORA3-
-
-
-
1Loss-
ADPGK-
-
-
-
5Amp-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
3Gain-
ADRA1D-
-
-
-
3Gain-
ADRA2A-
-
-
-
1Loss-
ADRA2B-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
AEBP1-
-
-
-
1Loss-
AEBP2-
-
-
-
1Loss-
AEN-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF2p.D1101Y
Missense
SNP
0.991
NDND-
AFF3-
-
-
-
3Gain-
AFG3L2-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AGAp.D344Y
Missense
SNP
0.384
2--
AGAP2-
-
-
-
3Gain-
AGAP3-
-
-
-
1Loss-
AGAP4-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL1p.T712S
Missense
SNP
1.000
1Loss-
AGBL2-
-
-
-
1Loss-
AGBL3-
-
-
-
1Loss-
AGBL4-
-
-
-
3Gain-
AGFG1-
-
-
-
1Loss-
AGFG2-
-
-
-
1Loss-
AGK-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
1Loss-
AGO1-
-
-
-
3Gain-
AGO2-
-
-
-
1Loss-
AGO3-
-
-
-
3Gain-
AGPAT3-
-
-
-
3Gain-
AGPAT5-
-
-
-
3Gain-
AGR2-
-
-
-
1Loss-
AGR3-
-
-
-
1Loss-
AGRN-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGTRAP-
-
-
-
1Loss-
AGXT2-
-
-
-
5Amp-
AHCTF1-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHCYL1-
-
-
-
1Loss-
AHCYL2-
-
-
-
1Loss-
AHDC1-
-
-
-
1Loss-
AHNAK-
-
-
-
3Gain-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
1Loss-
AHRR-
-
-
-
5Amp-
AHSA1-
-
-
-
1Loss-
AHSG-
-
-
-
0Del-
AHSP-
-
-
-
1Loss-
AICDA-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AIFM3-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
1Loss-
AIP-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
3Gain-
AJAP1-
-
-
-
3Gain-
AJUBA-
-
-
-
3Gain-
AK1-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AK4-
-
-
-
3Gain-
AK5-
-
-
-
3Gain-
AK7-
-
-
-
1Loss-
AK8p.X374_splice
Splice_Site
SNP
0.317
2--
AKAIN1-
-
-
-
1Loss-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
5AmpZNF100--AKAP10
AKAP11p.S893L
Missense
SNP
1.000
3Gain-
AKAP13-
-
-
-
1Loss-
AKAP2-
-
-
-
3Gain-
AKAP3-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
11Amp-
AKAP8-
-
-
-
3Gain-
AKAP8Lp.G119A
Missense
SNP
0.992
3Gain-
AKAP9-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKIRIN1-
-
-
-
3Gain-
AKNA-
-
-
-
3Gain-
AKNAD1-
-
-
-
1Loss-
AKR1A1-
-
-
-
3Gain-
AKR1B1-
-
-
-
1Loss-
AKR1B10-
-
-
-
1Loss-
AKR1B15-
-
-
-
1Loss-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
1Loss-
AKR1E2-
-
-
-
3Gain-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AKT1S1-
-
-
-
1Loss-
AKT2-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
3Gain-
AL020996.2-
-
-
-
1Loss-
AL021546.1-
-
-
-
3Gain-
AL022318.4-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL035078.4-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
1Loss-
AL117339.5-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
6Amp-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL132780.3-
-
-
-
3Gain-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
3Gain-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL136531.2-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
11Amp-
AL157392.5-
-
-
-
3Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162377.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL358113.1-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445685.3-
-
-
-
3Gain-
AL449266.1-
-
-
-
1Loss-
AL451062.3-
-
-
-
3Gain-
AL512356.1-
-
-
-
NDNDSNX8--AL512356.1
AL512506.3-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
1Loss-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
1Loss-
AL672043.1-
-
-
-
3Gain-
AL672142.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
1Loss-
AL928654.3-
-
-
-
1Loss-
ALAD-
-
-
-
3Gain-
ALDH16A1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
1Loss-
ALDH1B1p.A109Qfs*3
Frame_Shift_Del
DEL
0.483
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH3A1-
-
-
-
3Gain-
ALDH3A2-
-
-
-
3Gain-
ALDH3B1-
-
-
-
3Gain-
ALDH3B2-
-
-
-
3Gain-
ALDH4A1-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDH9A1p.V225L
Missense
SNP
0.450
3Gain-
ALDOA-
-
-
-
1Loss-
ALDOB-
-
-
-
3Gain-
ALDOC-
-
-
-
3Gain-
ALG1-
-
-
-
1Loss-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG2-
-
-
-
3Gain-
ALG3-
-
-
-
0Del-
ALG5-
-
-
-
3Gain-
ALG6-
-
-
-
3Gain-
ALG8-
-
-
-
3Gain-
ALG9-
-
-
-
3Gain-
ALKAL1-
-
-
-
5Amp-
ALKAL2-
-
-
-
1Loss-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
3Gain-
ALKBH3-
-
-
-
1Loss-
ALKBH4-
-
-
-
1Loss-
ALKBH5-
-
-
-
3Gain-
ALKBH6-
-
-
-
1Loss-
ALKBH7-
-
-
-
3Gain-
ALKBH8-
-
-
-
3Gain-
ALLC-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOX5AP-
-
-
-
3Gain-
ALOXE3p.E268Sfs*22
Frame_Shift_Del
DEL
0.986
1Loss-
ALPK2-
-
-
-
6Amp-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX1-
-
-
-
3Gain-
ALX3-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
ALYREF-
-
-
-
3Gain-
AMACR-
-
-
-
5Amp-
AMBNp.P333Q
p.P349H
Missense
Missense
SNP
SNP
0.351
0.387
2--
AMBP-
-
-
-
3Gain-
AMBRA1-
-
-
-
1Loss-
AMDHD1-
-
-
-
3Gain-
AMER2-
-
-
-
3Gain-
AMER3-
-
-
-
1Loss-
AMFR-
-
-
-
3Gain-
AMH-
-
-
-
1Loss-
AMHR2-
-
-
-
3Gain-
AMIGO1-
-
-
-
1Loss-
AMIGO2-
-
-
-
3Gain-
AMMECR1L-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMOTL1-
-
-
-
3Gain-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
1Loss-
AMZ1-
-
-
-
1Loss-
AMZ2-
-
-
-
3Gain-
ANAPC1-
-
-
-
1Loss-
ANAPC11-
-
-
-
3Gain-
ANAPC15-
-
-
-
3Gain-
ANAPC16-
-
-
-
1Loss-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
1Loss-
ANGEL2-
-
-
-
1Loss-
ANGPT1-
-
-
-
4Gain-
ANGPT2-
-
-
-
3Gain-
ANGPT4-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANGPTL3-
-
-
-
3Gain-
ANGPTL4-
-
-
-
5Amp-
ANGPTL5p.T94A
Missense
SNP
0.411
3Gain-
ANGPTL6-
-
-
-
5Amp-
ANGPTL7-
-
-
-
1Loss-
ANGPTL8-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANK1-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKAR-
-
-
-
1Loss-
ANKDD1A-
-
-
-
3Gain-
ANKEF1-
-
-
-
3Gain-
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
5Amp-
ANKIB1-
-
-
-
1Loss-
ANKK1-
-
-
-
3Gain-
ANKLE1-
-
-
-
3Gain-
ANKLE2-
-
-
-
3Gain-
ANKMY2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
1Loss-
ANKRD13A-
-
-
-
3Gain-
ANKRD13B-
-
-
-
3Gain-
ANKRD13C-
-
-
-
3Gain-
ANKRD13D-
-
-
-
3Gain-
ANKRD16-
-
-
-
3Gain-
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
3Gain-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD23-
-
-
-
3Gain-
ANKRD24-
-
-
-
1Loss-
ANKRD26p.K350N
Missense
SNP
0.319
3Gain-
ANKRD27-
-
-
-
1Loss-
ANKRD28-
-
-
-
3Gain-
ANKRD29-
-
-
-
6Amp-
ANKRD30A-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD30BL-
-
-
-
1Loss-
ANKRD33-
-
-
-
3Gain-
ANKRD33B-
-
-
-
5Amp-
ANKRD34A-
-
-
-
3Gain-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD36-
-
-
-
3Gain-
ANKRD36B-
-
-
-
3Gain-
ANKRD36C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD39-
-
-
-
3Gain-
ANKRD40-
-
-
-
3Gain-
ANKRD42-
-
-
-
3Gain-
ANKRD44-
-
-
-
1Loss-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
4Gain-
ANKRD49-
-
-
-
3Gain-
ANKRD52-
-
-
-
3Gain-
ANKRD54-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD61-
-
-
-
1Loss-
ANKRD62-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKRD65-
-
-
-
3Gain-
ANKRD7-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANKS1B-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKS6-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
1Loss-
ANO1-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANO3p.G820C
Missense
SNP
0.966
1Loss-
ANO4-
-
-
-
3Gain-
ANO5-
-
-
-
1Loss-
ANO6-
-
-
-
3Gain-
ANO8-
-
-
-
3Gain-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
3Gain-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANTXRL-
-
-
-
1Loss-
ANXA1-
-
-
-
3Gain-
ANXA11-
-
-
-
1Loss-
ANXA13-
-
-
-
4Gain-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
5Amp-
ANXA7-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
1Loss-
AOC1-
-
-
-
1Loss-
AOC2-
-
-
-
3Gain-
AOC3-
-
-
-
3Gain-
AOX1-
-
-
-
1Loss-
AP000275.2-
-
-
-
3Gain-
AP000295.1-
-
-
-
3Gain-
AP000311.1-
-
-
-
3Gain-
AP000350.4-
-
-
-
3Gain-
AP000646.1-
-
-
-
3Gain-
AP000721.1-
-
-
-
3Gain-
AP000781.2-
-
-
-
3Gain-
AP000812.4-
-
-
-
3Gain-
AP000812.5-
-
-
-
3Gain-
AP000944.2-
-
-
-
3Gain-
AP001267.5-
-
-
-
3Gain-
AP001273.2-
-
-
-
3Gain-
AP001458.2-
-
-
-
3Gain-
AP001781.2-
-
-
-
3Gain-
AP001931.1-
-
-
-
3Gain-
AP002373.1-
-
-
-
3Gain-
AP002495.1-
-
-
-
3Gain-
AP002512.3-
-
-
-
3Gain-
AP002748.4-
-
-
-
3Gain-
AP002884.3-
-
-
-
3Gain-
AP002990.1-
-
-
-
3Gain-
AP003108.2-
-
-
-
3Gain-
AP003419.1-
-
-
-
3Gain-
AP1B1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1G2-
-
-
-
3Gain-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
5Amp-
AP1S1-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2A1-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2B1-
-
-
-
3Gain-
AP2M1-
-
-
-
0Del-
AP2S1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
3Gain-
AP4M1-
-
-
-
1Loss-
AP4S1-
-
-
-
11Amp-
AP5B1-
-
-
-
3Gain-
AP5M1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
1Loss-
APAF1-
-
-
-
3Gain-
APBA1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB1IP-
-
-
-
3Gain-
APBB2-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APEX1-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLNRp.L218V
Missense
SNP
0.457
3Gain-
APLP1-
-
-
-
1Loss-
APLP2-
-
-
-
3Gain-
APMAP-
-
-
-
3Gain-
APOA1-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
3Gain-
APOA5-
-
-
-
3Gain-
APOBEC1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOBR-
-
-
-
1Loss-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC3-
-
-
-
3Gain-
APOC4-APOC2-
-
-
-
1Loss-
APOD-
-
-
-
0Del-
APOE-
-
-
-
1Loss-
APOF-
-
-
-
3Gain-
APOH-
-
-
-
3Gain-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APP-
-
-
-
3Gain-
APPBP2-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP3-
-
-
-
3Gain-
AQP4-
-
-
-
6Amp-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
AQP8-
-
-
-
1Loss-
AQP9-
-
-
-
3Gain-
AQR-
-
-
-
1Loss-
ARAP1-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARC-
-
-
-
1Loss-
ARCN1-
-
-
-
3Gain-
AREL1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF3-
-
-
-
3Gain-
ARF5-
-
-
-
1Loss-
ARF6-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGEF1-
-
-
-
5Amp-
ARFGEF2-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP12-
-
-
-
3Gain-
ARHGAP15-
-
-
-
1Loss-
ARHGAP17-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
1Loss-
ARHGAP23-
-
-
-
3Gain-
ARHGAP27-
-
-
-
3Gain-
ARHGAP28-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP32p.P332L
Missense
SNP
0.476
3Gain-
ARHGAP33-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP4p.S292C
Missense
SNP
1.000
NDND-
ARHGAP40-
-
-
-
3Gain-
ARHGAP42p.S264T
Missense
SNP
0.488
3Gain-
ARHGAP44-
-
-
-
3Gain-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
11Amp-
ARHGAP9p.X551_splice
Splice_Site
SNP
0.562
3Gain-
ARHGDIA-
-
-
-
3Gain-
ARHGDIB-
-
-
-
1Loss-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10-
-
-
-
3Gain-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF17-
-
-
-
3Gain-
ARHGEF18-
-
-
-
3Gain-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF25-
-
-
-
3Gain-
ARHGEF35-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARHGEF4-
-
-
-
1Loss-
ARHGEF40-
-
-
-
3Gain-
ARHGEF5-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
1Loss-
ARID2p.Q1678P
Missense
SNP
0.127
3Gain-
ARID3A-
-
-
-
1Loss-
ARID3Bp.A135Hfs*122
Frame_Shift_Del
DEL
0.248
1Loss-
ARID3C-
-
-
-
3Gain-
ARID4A-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARID5A-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARIH1-
-
-
-
5Amp-
ARL1-
-
-
-
3Gain-
ARL11-
-
-
-
1Loss-
ARL14EP-
-
-
-
1Loss-
ARL16-
-
-
-
3Gain-
ARL2-
-
-
-
3Gain-
ARL2-SNX15-
-
-
-
3Gain-
ARL2BP-
-
-
-
3Gain-
ARL3-
-
-
-
1Loss-
ARL4A-
-
-
-
1Loss-
ARL4D-
-
-
-
3Gain-
ARL5A-
-
-
-
1Loss-
ARL5B-
-
-
-
3Gain-
ARL5C-
-
-
-
3Gain-
ARL6IP1-
-
-
-
1Loss-
ARL6IP4-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL8A-
-
-
-
1Loss-
ARL8B-
-
-
-
3Gain-
ARL9-
-
-
-
0Del-
ARMC1-
-
-
-
5Amp-
ARMC10-
-
-
-
1Loss-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMC5-
-
-
-
1Loss-
ARMC6-
-
-
-
3Gain-
ARMC7-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARMH1-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARNTL2-
-
-
-
3Gain-
ARPC1A-
-
-
-
1Loss-
ARPC1B-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC3-
-
-
-
3Gain-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPC5L-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARPP21-
-
-
-
1Loss-
ARRB1-
-
-
-
3Gain-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
3Gain-
ARRDC4-
-
-
-
1Loss-
ARRDC5-
-
-
-
3Gain-
ARSG-
-
-
-
3Gain-
ART1-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
3Gain-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP1-
-
-
-
4Gain-
ASAP3-
-
-
-
1Loss-
ASB10-
-
-
-
1Loss-
ASB13-
-
-
-
3Gain-
ASB15-
-
-
-
1Loss-
ASB16-
-
-
-
3Gain-
ASB17-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB4-
-
-
-
1Loss-
ASB6-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASB8-
-
-
-
3Gain-
ASCC1-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL1-
-
-
-
3Gain-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASCL4-
-
-
-
3Gain-
ASF1B-
-
-
-
3Gain-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
1Loss-
ASIC1-
-
-
-
3Gain-
ASIC2-
-
-
-
3Gain-
ASIC3-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASL-
-
-
-
1Loss-
ASNS-
-
-
-
1Loss-
ASNSD1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPDH-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPHp.G95V
Missense
SNP
1.000
5Amp-
ASPHD1-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASPM-
-
-
-
1Loss-
ASPN-
-
-
-
3Gain-
ASPSCR1-
-
-
-
3Gain-
ASRGL1-
-
-
-
3Gain-
ASS1-
-
-
-
3Gain-
ASTL-
-
-
-
1Loss-
ASTN1-
-
-
-
3Gain-
ASTN2-
-
-
-
3Gain-
ASXL1-
-
-
-
1Loss-
ASXL3p.H1252N
p.G1287A
Missense
Missense
SNP
SNP
0.716
0.756
6Amp-
ASZ1-
-
-
-
1Loss-
ATAD1-
-
-
-
1Loss-
ATAD2-
-
-
-
4Gain-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATAD5-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
3Gain-
ATF3-
-
-
-
1Loss-
ATF5-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
1Loss-
ATF7IP2-
-
-
-
1Loss-
ATG101-
-
-
-
3Gain-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG16L2-
-
-
-
3Gain-
ATG2A-
-
-
-
3Gain-
ATG2B-
-
-
-
1Loss-
ATG4C-
-
-
-
3Gain-
ATG4D-
-
-
-
5Amp-
ATG7-
-
-
-
3Gain-
ATG9A-
-
-
-
1Loss-
ATG9B-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATL1-
-
-
-
1Loss-
ATL3-
-
-
-
3Gain-
ATMp.W1805*
Nonsense
SNP
0.373
3Gain-
ATMIN-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOH8-
-
-
-
1Loss-
ATP10Ap.D769H
Missense
SNP
0.457
3Gain-
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
0Del-
ATP12A-
-
-
-
3Gain-
ATP13A1-
-
-
-
3Gain-
ATP13A2-
-
-
-
1Loss-
ATP13A3-
-
-
-
0Del-
ATP13A4-
-
-
-
0Del-
ATP13A5p.P738S
Missense
SNP
1.000
0Del-
ATP1A1-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A3-
-
-
-
1Loss-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP23-
-
-
-
3Gain-
ATP2A1-
-
-
-
1Loss-
ATP2A2-
-
-
-
3Gain-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
3Gain-
ATP2B2-
-
-
-
3Gain-
ATP2B4-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP4A-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
6Amp-
ATP5F1B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
1Loss-
ATP5MC1-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP5MF-
-
-
-
1Loss-
ATP5MF-PTCD1-
-
-
-
1Loss-
ATP5MG-
-
-
-
3Gain-
ATP5MPL-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP5PD-
-
-
-
3Gain-
ATP5PF-
-
-
-
3Gain-
ATP5PO-
-
-
-
3Gain-
ATP5S-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
1Loss-
ATP6V0B-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
6AmpWWP1--ATP6V0D2
ATP6V0E2p.D138A
Missense
SNP
1.000
1Loss-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
4Gain-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
1Loss-
ATP6V1H-
-
-
-
5Amp-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8A2-
-
-
-
3Gain-
ATP8B1-
-
-
-
6Amp-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
3Gain-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
6Amp-
ATPAF1-
-
-
-
3Gain-
ATPAF2-
-
-
-
3Gain-
ATRN-
-
-
-
3Gain-
ATRNL1-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2-
-
-
-
3Gain-
ATXN2L-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AUH-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AUP1-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AUTS2-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AVIL-
-
-
-
3Gain-
AVL9-
-
-
-
1Loss-
AVP-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
3Gain-
AVPR1B-
-
-
-
1Loss-
AXDND1-
-
-
-
3Gain-
AXIN2p.S557T
Missense
SNP
0.455
3Gain-
AXL-
-
-
-
1Loss-
AZGP1-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
4Gain-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2p.N100Kfs*15
Frame_Shift_Del
DEL
1.000
1Loss-
B3GALT5p.K189E
Missense
SNP
0.514
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GAT1p.I13M
Missense
SNP
0.449
3Gain-
B3GAT3-
-
-
-
3Gain-
B3GLCT-
-
-
-
3Gain-
B3GNT3-
-
-
-
3Gain-
B3GNT4-
-
-
-
3Gain-
B3GNT5-
-
-
-
0Del-
B3GNT6-
-
-
-
3Gain-
B3GNT7-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B3GNTL1-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT2-
-
-
-
3Gain-
B4GALNT3-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
3Gain-
B4GALT2-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GALT6-
-
-
-
6Amp-
B4GAT1-
-
-
-
3Gain-
B9D1-
-
-
-
3Gain-
B9D2-
-
-
-
1Loss-
BAALC-
-
-
-
4Gain-
BAAT-
-
-
-
3Gain-
BABAM1-
-
-
-
3Gain-
BACE1-
-
-
-
3Gain-
BACE2-
-
-
-
3Gain-
BACH1-
-
-
-
3Gain-
BAD-
-
-
-
3Gain-
BAG1-
-
-
-
3Gain-
BAG3-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAHCC1-
-
-
-
3Gain-
BAHD1-
-
-
-
1Loss-
BAIAP2-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
1Loss-
BAMBI-
-
-
-
3Gain-
BANF1-
-
-
-
3Gain-
BANF2-
-
-
-
3Gain-
BANK1p.G11W
Missense
SNP
0.233
2--
BANP-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARHL2-
-
-
-
3Gain-
BARX1-
-
-
-
3Gain-
BARX2-
-
-
-
3Gain-
BASP1-
-
-
-
5Amp-
BATF-
-
-
-
1Loss-
BATF2-
-
-
-
3Gain-
BATF3-
-
-
-
1Loss-
BAX-
-
-
-
1Loss-
BAZ1A-
-
-
-
6Amp-
BAZ1B-
-
-
-
1Loss-
BAZ2A-
-
-
-
3Gain-
BAZ2B-
-
-
-
1Loss-
BBC3-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS1-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS2-
-
-
-
3Gain-
BBS4-
-
-
-
5Amp-
BBS9-
-
-
-
1Loss-
BCAM-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
1Loss-
BCAR1-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS2-
-
-
-
1Loss-
BCAS3-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCAT2-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
3Gain-
BCHE-
-
-
-
0Del-
BCKDHA-
-
-
-
1Loss-
BCKDK-
-
-
-
1Loss-
BCL10-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
6Amp-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
1Loss-
BCL2L10-
-
-
-
3Gain-
BCL2L11-
-
-
-
1Loss-
BCL2L12-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL2L14-
-
-
-
1Loss-
BCL2L15-
-
-
-
1Loss-
BCL2L2-
-
-
-
3Gain-
BCL2L2-PABPN1-
-
-
-
3Gain-
BCL3-
-
-
-
1Loss-
BCL6-
-
-
-
0Del-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
3Gain-
BCL7B-
-
-
-
1Loss-
BCL7C-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BCO2-
-
-
-
3Gain-
BCORL1p.G543W
Missense
SNP
1.000
NDND-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
0Del-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BECN1-
-
-
-
3Gain-
BEGAIN-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND5-
-
-
-
3Gain-
BEND7-
-
-
-
3Gain-
BEST1-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BEST4-
-
-
-
3Gain-
BET1-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BFAR-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BGLAP-
-
-
-
3Gain-
BHLHA15-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE22p.P80H
Missense
SNP
0.316
5Amp-
BHLHE23-
-
-
-
3Gain-
BHLHE40-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD2p.D636Y
Missense
SNP
0.507
3Gain-
BICDL1-
-
-
-
3Gain-
BICRA-
-
-
-
1Loss-
BID-
-
-
-
3Gain-
BIN1-
-
-
-
1Loss-
BIN2-
-
-
-
3Gain-
BIN3-
-
-
-
3Gain-
BIRC2-
-
-
-
3Gain-
BIRC3-
-
-
-
3Gain-
BIRC5-
-
-
-
3Gain-
BIRC7-
-
-
-
3Gain-
BIRC8-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLCAP-
-
-
-
3Gain-
BLID-
-
-
-
3Gain-
BLK-
-
-
-
3Gain-
BLMH-
-
-
-
3Gain-
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S2-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLOC1S6-
-
-
-
3Gain-
BLVRA-
-
-
-
1Loss-
BLVRB-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
3Gain-
BMP1-
-
-
-
3Gain-
BMP2p.A180S
Missense
SNP
0.513
3Gain-
BMP4-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPER-
-
-
-
1Loss-
BMPR1A-
-
-
-
1Loss-
BMPR1B-
-
-
-
3Gain-
BMPR2-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNC2-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BNIP3L-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOCp.P181S
Missense
SNP
0.360
2--
BOD1p.G174C
Missense
SNP
0.679
2--
BOD1L2-
-
-
-
6Amp-
BOLA1-
-
-
-
3Gain-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BORCS8-
-
-
-
3Gain-
BORCS8-MEF2B-
-
-
-
3Gain-
BPGM-
-
-
-
1Loss-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
1Loss-
BPNT1-
-
-
-
1Loss-
BPTF-
-
-
-
3Gain-
BRAF-
-
-
-
1Loss-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
1Loss-
BRCA1p.A194V
Missense
SNP
0.431
3Gain-
BRCA2-
-
-
-
3Gain-
BRD4-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRD9-
-
-
-
5Amp-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3-
-
-
-
1Loss-
BRI3BP-
-
-
-
3Gain-
BRINP1-
-
-
-
3Gain-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
1Loss-
BRIP1p.C86F
Missense
SNP
0.489
3Gain-
BRIX1-
-
-
-
5Amp-
BRK1-
-
-
-
3Gain-
BRMS1-
-
-
-
3Gain-
BRMS1L-
-
-
-
6Amp-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
3Gain-
BRPF3p.R767L
Missense
SNP
0.988
2--
BRSK1-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BRWD3p.G80V
Missense
SNP
1.000
NDND-
BSCL2-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSND-
-
-
-
3Gain-
BSPH1-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BST2-
-
-
-
3Gain-
BSX-
-
-
-
3Gain-
BTAF1-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD11-
-
-
-
3Gain-
BTBD16-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD18-
-
-
-
3Gain-
BTBD19-
-
-
-
3Gain-
BTBD2-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTD-
-
-
-
3Gain-
BTF3L4-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTG2-
-
-
-
1Loss-
BTG3-
-
-
-
3Gain-
BTG4-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB1-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
3Gain-
BUD23-
-
-
-
1Loss-
BUD31-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
BZW2-
-
-
-
1Loss-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
3Gain-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf1-
-
-
-
3Gain-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf24-
-
-
-
3Gain-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
3Gain-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
3Gain-
C11orf53-
-
-
-
3Gain-
C11orf54-
-
-
-
3Gain-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
3Gain-
C11orf68-
-
-
-
3Gain-
C11orf71-
-
-
-
3Gain-
C11orf74-
-
-
-
1Loss-
C11orf80-
-
-
-
3Gain-
C11orf86p.G56E
Missense
SNP
0.504
3Gain-
C11orf87-
-
-
-
3Gain-
C11orf88-
-
-
-
3Gain-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
3Gain-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
3Gain-
C11orf98-
-
-
-
3Gain-
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
1Loss-
C12orf40p.S9Y
Missense
SNP
0.363
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50p.S353R
Missense
SNP
0.494
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
8Amp-
C14orf39p.S576Y
Missense
SNP
1.000
1Loss-
C14orf93-
-
-
-
3Gain-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
3Gain-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
3Gain-
C16orf45-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf54-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
3Gain-
C17orf51-
-
-
-
3Gain-
C17orf53-
-
-
-
3Gain-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf75-
-
-
-
1Loss-
C17orf78-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
6Amp-
C18orf25-
-
-
-
6Amp-
C18orf32-
-
-
-
6Amp-
C18orf54-
-
-
-
6Amp-
C18orf63-
-
-
-
6Amp-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
5Amp-
C19orf44-
-
-
-
5Amp-
C19orf47-
-
-
-
1Loss-
C19orf48-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C19orf66-
-
-
-
5Amp-
C19orf67-
-
-
-
3Gain-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf109-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
1Loss-
C1orf116-
-
-
-
1Loss-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
1Loss-
C1orf167p.R306P
Missense
SNP
0.998
1Loss-
C1orf174-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf210-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf50-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf53-
-
-
-
1Loss-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
1Loss-
C1orf87-
-
-
-
3Gain-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL1-
-
-
-
3Gain-
C1QL2-
-
-
-
1Loss-
C1QL3-
-
-
-
3Gain-
C1QL4-
-
-
-
3Gain-
C1QTNF1-
-
-
-
3Gain-
C1QTNF12-
-
-
-
3Gain-
C1QTNF3-
-
-
-
5Amp-
C1QTNF3-AMACR-
-
-
-
5Amp-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
3Gain-
C1QTNF6-
-
-
-
1Loss-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C21orf58-
-
-
-
3Gain-
C21orf62-
-
-
-
3Gain-
C21orf91-
-
-
-
3Gain-
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
1Loss-
C2CD2-
-
-
-
3Gain-
C2CD2L-
-
-
-
3Gain-
C2CD3-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf15-
-
-
-
3Gain-
C2orf40-
-
-
-
1Loss-
C2orf49-
-
-
-
1Loss-
C2orf66-
-
-
-
1Loss-
C2orf68-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf76-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf81-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C2orf88-
-
-
-
1Loss-
C3p.H457Y
Missense
SNP
0.067
3Gain-
C3AR1-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf20-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
0Del-
C4BPA-
-
-
-
1Loss-
C4BPB-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf26p.R59G
Missense
SNP
0.324
NDND-
C4orf47-
-
-
-
1Loss-
C5-
-
-
-
3Gain-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf22-
-
-
-
5Amp-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
5Amp-
C5orf49-
-
-
-
5Amp-
C5orf51-
-
-
-
5Amp-
C6-
-
-
-
5Amp-
C7-
-
-
-
5Amp-
C7orf25-
-
-
-
1Loss-
C7orf26-
-
-
-
1Loss-
C7orf31-
-
-
-
1Loss-
C7orf33-
-
-
-
1Loss-
C7orf43-
-
-
-
1Loss-
C7orf50-
-
-
-
1Loss-
C7orf55-LUC7L2-
-
-
-
1Loss-
C7orf57-
-
-
-
1Loss-
C7orf61-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C8A-
-
-
-
3Gain-
C8B-
-
-
-
3Gain-
C8orf34-
-
-
-
5Amp-
C8orf37-
-
-
-
6Amp-
C8orf44-
-
-
-
5Amp-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf59-
-
-
-
5Amp-
C8orf74p.S83Y
Missense
SNP
0.526
3Gain-
C8orf76-
-
-
-
4Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
6Amp-
C8orf89-
-
-
-
5Amp-
C9-
-
-
-
5Amp-
C9orf129-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA1-
-
-
-
5Amp-
CA10-
-
-
-
3Gain-
CA11-
-
-
-
1Loss-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
5Amp-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
5Amp-
CA3-
-
-
-
5Amp-
CA4-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
5Amp-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
3Gain-
CABP1p.R370L
Missense
SNP
0.406
3Gain-
CABP2-
-
-
-
3Gain-
CABP4-
-
-
-
3Gain-
CABP5-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CABYR-
-
-
-
6Amp-
CACHD1-
-
-
-
3Gain-
CACNA1A-
-
-
-
3Gain-
CACNA1C-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA1G-
-
-
-
3Gain-
CACNA1S-
-
-
-
1Loss-
CACNA2D1-
-
-
-
1Loss-
CACNA2D4-
-
-
-
1Loss-
CACNB1-
-
-
-
3Gain-
CACNB2-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CACNB4-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG2-
-
-
-
1Loss-
CACNG3-
-
-
-
1Loss-
CACNG4-
-
-
-
3Gain-
CACNG5p.M52K
Missense
SNP
0.520
3Gain-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADM4-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
1Loss-
CALB1-
-
-
-
8Amp-
CALB2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
3Gain-
CALCOCO2-
-
-
-
3Gain-
CALCR-
-
-
-
1Loss-
CALCRL-
-
-
-
1Loss-
CALD1-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALML3-
-
-
-
3Gain-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALML6-
-
-
-
3Gain-
CALN1-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
3Gain-
CALU-
-
-
-
1Loss-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
1Loss-
CAMK2B-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMK2N2-
-
-
-
0Del-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
3Gain-
CAMSAP2-
-
-
-
1Loss-
CAMSAP3-
-
-
-
3Gain-
CAMTA1-
-
-
-
3Gain-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
3Gain-
CAND2-
-
-
-
3Gain-
CANT1-
-
-
-
3Gain-
CAP1-
-
-
-
3Gain-
CAPG-
-
-
-
1Loss-
CAPN1-
-
-
-
3Gain-
CAPN12-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN5p.R62H
Missense
SNP
0.516
3Gain-
CAPN7-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS1-
-
-
-
1Loss-
CAPNS2-
-
-
-
3Gain-
CAPRIN1-
-
-
-
1Loss-
CAPRIN2-
-
-
-
3Gain-
CAPSp.S58C
Missense
SNP
0.193
1Loss-
CAPS2-
-
-
-
3Gain-
CAPSL-
-
-
-
5Amp-
CAPZA1-
-
-
-
1Loss-
CAPZA2-
-
-
-
1Loss-
CAPZA3-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARD11-
-
-
-
1Loss-
CARD14-
-
-
-
3Gain-
CARD16-
-
-
-
3Gain-
CARD17-
-
-
-
3Gain-
CARD18-
-
-
-
3Gain-
CARD19-
-
-
-
3Gain-
CARD6-
-
-
-
5Amp-
CARD8-
-
-
-
1Loss-
CARF-
-
-
-
1Loss-
CARHSP1-
-
-
-
1Loss-
CARM1-
-
-
-
5Amp-
CARMIL2-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNMT1-
-
-
-
3Gain-
CARNS1-
-
-
-
3Gain-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASC1-
-
-
-
3Gain-
CASC10-
-
-
-
3Gain-
CASC3-
-
-
-
3Gain-
CASC4-
-
-
-
3Gain-
CASD1-
-
-
-
1Loss-
CASKIN2-
-
-
-
3Gain-
CASP1-
-
-
-
3Gain-
CASP10-
-
-
-
1Loss-
CASP12-
-
-
-
3Gain-
CASP14-
-
-
-
3Gain-
CASP2-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
3Gain-
CASP5-
-
-
-
3Gain-
CASP7-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
1Loss-
CASS4-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CASTOR2-
-
-
-
1Loss-
CASTOR3-
-
-
-
1Loss-
CAT-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER1-
-
-
-
3Gain-
CATSPER2-
-
-
-
3Gain-
CATSPER4-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERG-
-
-
-
1Loss-
CATSPERZ-
-
-
-
3Gain-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAV3-
-
-
-
3Gain-
CAVIN1-
-
-
-
3Gain-
CAVIN2-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
3Gain-
CBLC-
-
-
-
1Loss-
CBLL1-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
6Amp-
CBLN3-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBSL-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CBWD2-
-
-
-
1Loss-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX1-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX3-
-
-
-
1Loss-
CBX4-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBX8-
-
-
-
3Gain-
CBY1-
-
-
-
1Loss-
CC2D1A-
-
-
-
3Gain-
CC2D1B-
-
-
-
3Gain-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCAR2-
-
-
-
3Gain-
CCBE1-
-
-
-
6Amp-
CCDC102A-
-
-
-
3Gain-
CCDC102B-
-
-
-
6Amp-
CCDC103-
-
-
-
3Gain-
CCDC105-
-
-
-
3Gain-
CCDC106-
-
-
-
1Loss-
CCDC107-
-
-
-
3Gain-
CCDC110-
-
-
-
1Loss-
CCDC113-
-
-
-
3Gain-
CCDC114-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC116p.A327T
Missense
SNP
0.293
3Gain-
CCDC117-
-
-
-
1Loss-
CCDC122-
-
-
-
3Gain-
CCDC124-
-
-
-
3Gain-
CCDC126-
-
-
-
1Loss-
CCDC127-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC136-
-
-
-
1Loss-
CCDC137-
-
-
-
3Gain-
CCDC138p.F493L
Missense
SNP
1.000
1Loss-
CCDC140-
-
-
-
1Loss-
CCDC141-
-
-
-
1Loss-
CCDC142-
-
-
-
1Loss-
CCDC144A-
-
-
-
3Gain-
CCDC144NL-
-
-
-
3Gain-
CCDC146-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC15-
-
-
-
3Gain-
CCDC150-
-
-
-
1Loss-
CCDC151-
-
-
-
3Gain-
CCDC152-
-
-
-
5Amp-
CCDC153-
-
-
-
3Gain-
CCDC155-
-
-
-
1Loss-
CCDC157p.R436H
Missense
SNP
1.000
1Loss-
CCDC158p.R621G
Missense
SNP
0.295
2--
CCDC159-
-
-
-
3Gain-
CCDC163-
-
-
-
3Gain-
CCDC166-
-
-
-
1Loss-
CCDC168p.D3348H
Missense
SNP
1.000
1Loss-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC17-
-
-
-
3Gain-
CCDC171-
-
-
-
3Gain-
CCDC172-
-
-
-
1Loss-
CCDC174-
-
-
-
3Gain-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
6Amp-
CCDC179-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC182-
-
-
-
3Gain-
CCDC184-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
3Gain-
CCDC189-
-
-
-
1Loss-
CCDC190-
-
-
-
3Gain-
CCDC194-
-
-
-
3Gain-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC24-
-
-
-
3Gain-
CCDC25-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC28B-
-
-
-
1Loss-
CCDC3-
-
-
-
3Gain-
CCDC30-
-
-
-
3Gain-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC38-
-
-
-
3Gain-
CCDC39-
-
-
-
0Del-
CCDC40-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC43-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
0Del-
CCDC57-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC6-
-
-
-
1Loss-
CCDC60-
-
-
-
3Gain-
CCDC61-
-
-
-
1Loss-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC68-
-
-
-
6Amp-
CCDC7-
-
-
-
3Gain-
CCDC70-
-
-
-
1Loss-
CCDC71L-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC74Ap.V125L
Missense
SNP
0.506
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC77-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC81p.Q25L
Missense
SNP
0.545
3Gain-
CCDC82-
-
-
-
3Gain-
CCDC83-
-
-
-
3Gain-
CCDC84-
-
-
-
3Gain-
CCDC85B-
-
-
-
3Gain-
CCDC85C-
-
-
-
1Loss-
CCDC86-
-
-
-
3Gain-
CCDC87-
-
-
-
3Gain-
CCDC88Bp.G961W
Missense
SNP
0.511
3Gain-
CCDC88C-
-
-
-
1Loss-
CCDC89-
-
-
-
3Gain-
CCDC9-
-
-
-
1Loss-
CCDC90B-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCDC93-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCER1-
-
-
-
3Gain-
CCER2-
-
-
-
1Loss-
CCIN-
-
-
-
3Gain-
CCK-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL1-
-
-
-
3Gain-
CCL11-
-
-
-
3Gain-
CCL13-
-
-
-
3Gain-
CCL14-
-
-
-
3Gain-
CCL15-
-
-
-
3Gain-
CCL15-CCL14-
-
-
-
3Gain-
CCL16-
-
-
-
3Gain-
CCL17-
-
-
-
3Gain-
CCL18-
-
-
-
3Gain-
CCL19-
-
-
-
3Gain-
CCL2-
-
-
-
3Gain-
CCL20-
-
-
-
1Loss-
CCL21-
-
-
-
3Gain-
CCL22-
-
-
-
3Gain-
CCL23-
-
-
-
3Gain-
CCL24-
-
-
-
1Loss-
CCL25-
-
-
-
3Gain-
CCL26-
-
-
-
1Loss-
CCL27-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
3Gain-
CCL3L1-
-
-
-
3Gain-
CCL4-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCL5-
-
-
-
3Gain-
CCL7-
-
-
-
3Gain-
CCL8-
-
-
-
3Gain-
CCM2-
-
-
-
1Loss-
CCM2L-
-
-
-
1Loss-
CCNA1-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
3Gain-
CCNB2-
-
-
-
3Gain-
CCND1-
-
-
-
3Gain-
CCND2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
6Amp-
CCNJ-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCNT2-
-
-
-
1Loss-
CCNY-
-
-
-
3Gain-
CCNYL1-
-
-
-
1Loss-
CCP110-
-
-
-
1Loss-
CCPG1-
-
-
-
3Gain-
CCR10-
-
-
-
3Gain-
CCR4-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCR8-
-
-
-
1Loss-
CCS-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
5Amp-
CCT6A-
-
-
-
1Loss-
CCT6B-
-
-
-
3Gain-
CCT8-
-
-
-
3Gain-
CCT8L2-
-
-
-
3Gain-
CCZ1-
-
-
-
1Loss-
CCZ1B-
-
-
-
1Loss-
CD101-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1p.D580N
Missense
SNP
0.996
1Loss-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD19-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
1Loss-
CD209-
-
-
-
3Gain-
CD22-
-
-
-
1Loss-
CD226-
-
-
-
6Amp-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248-
-
-
-
3Gain-
CD27-
-
-
-
1Loss-
CD274-
-
-
-
3Gain-
CD276-
-
-
-
3Gain-
CD28-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LG-
-
-
-
3Gain-
CD302-
-
-
-
1Loss-
CD320-
-
-
-
5Amp-
CD33-
-
-
-
1Loss-
CD34-
-
-
-
1Loss-
CD36-
-
-
-
1Loss-
CD37-
-
-
-
1Loss-
CD3D-
-
-
-
3Gain-
CD3E-
-
-
-
3Gain-
CD3EAP-
-
-
-
1Loss-
CD3G-
-
-
-
3Gain-
CD4-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD44-
-
-
-
1Loss-
CD46-
-
-
-
1Loss-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD55-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD5L-
-
-
-
3Gain-
CD6-
-
-
-
3Gain-
CD63-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD7-
-
-
-
3Gain-
CD70-
-
-
-
3Gain-
CD72-
-
-
-
3Gain-
CD79A-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD86p.P3T
Missense
SNP
0.673
2--
CD8A-
-
-
-
1Loss-
CD8B-
-
-
-
1Loss-
CD8B2-
-
-
-
1Loss-
CD9-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC123-
-
-
-
3Gain-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
3Gain-
CDC25B-
-
-
-
3Gain-
CDC26-
-
-
-
3Gain-
CDC27-
-
-
-
3Gain-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
5Amp-
CDC37L1-
-
-
-
3Gain-
CDC42-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
1Loss-
CDC42BPG-
-
-
-
3Gain-
CDC42EP1-
-
-
-
1Loss-
CDC42EP2-
-
-
-
3Gain-
CDC42EP4-
-
-
-
3Gain-
CDC42EP5-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC45-
-
-
-
3Gain-
CDC6-
-
-
-
3Gain-
CDC73-
-
-
-
1Loss-
CDCA2-
-
-
-
3Gain-
CDCA3-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA5-
-
-
-
3Gain-
CDCA7L-
-
-
-
1Loss-
CDCA8-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH10-
-
-
-
5Amp-
CDH11-
-
-
-
3Gain-
CDH12-
-
-
-
5Amp-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH17-
-
-
-
6Amp-
CDH18-
-
-
-
5Amp-
CDH19-
-
-
-
6Amp-
CDH2-
-
-
-
6Amp-
CDH20-
-
-
-
6Amp-
CDH22-
-
-
-
3Gain-
CDH23-
-
-
-
1Loss-
CDH24-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH3-
-
-
-
1Loss-
CDH4-
-
-
-
3Gain-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
5Amp-
CDH7p.R127M
Missense
SNP
0.264
6Amp-
CDH8-
-
-
-
3Gain-
CDH9-
-
-
-
5Amp-
CDHR1-
-
-
-
1Loss-
CDHR3-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK12-
-
-
-
3Gain-
CDK13-
-
-
-
1Loss-
CDK14-
-
-
-
1Loss-
CDK15-
-
-
-
1Loss-
CDK17-
-
-
-
3Gain-
CDK18-
-
-
-
1Loss-
CDK2-
-
-
-
3Gain-
CDK20-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK2AP2-
-
-
-
3Gain-
CDK3-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5-
-
-
-
1Loss-
CDK5R1-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDK5RAP2-
-
-
-
3Gain-
CDK5RAP3-
-
-
-
3Gain-
CDK6-
-
-
-
1Loss-
CDK8-
-
-
-
3Gain-
CDK9-
-
-
-
3Gain-
CDKL1-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2AIP-
-
-
-
1Loss-
CDKN2B-
-
-
-
3Gain-
CDKN2C-
-
-
-
3Gain-
CDKN2D-
-
-
-
5Amp-
CDKN3-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDON-
-
-
-
3Gain-
CDR2-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT1-
-
-
-
3Gain-
CDRT15-
-
-
-
3Gain-
CDRT15L2-
-
-
-
3Gain-
CDRT4-
-
-
-
3Gain-
CDS2-
-
-
-
3Gain-
CDT1-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
CDYL2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5-
-
-
-
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
1Loss-
CEBPE-
-
-
-
3Gain-
CEBPG-
-
-
-
1Loss-
CECR2-
-
-
-
3Gain-
CELp.P727Lfs*34
Frame_Shift_Del
DEL
0.557
2--
CELA1-
-
-
-
3Gain-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
6Amp-
CELF5-
-
-
-
1Loss-
CELF6-
-
-
-
5Amp-
CELSR2-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPB-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
1Loss-
CENPJ-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPP-
-
-
-
3Gain-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
3Gain-
CENPX-
-
-
-
3Gain-
CEP104-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP126-
-
-
-
3Gain-
CEP128-
-
-
-
1Loss-
CEP131-
-
-
-
3Gain-
CEP135-
-
-
-
0Del-
CEP152-
-
-
-
3Gain-
CEP164-
-
-
-
3Gain-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
1Loss-
CEP19-
-
-
-
0Del-
CEP192-
-
-
-
3Gain-
CEP250-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP295-
-
-
-
3Gain-
CEP295NL-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
3Gain-
CEP72p.Q244H
Missense
SNP
0.685
5Amp-
CEP76-
-
-
-
1Loss-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP85-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CEP95-
-
-
-
3Gain-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
3Gain-
CERCAM-
-
-
-
3Gain-
CERKL-
-
-
-
1Loss-
CERS1-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CERS4-
-
-
-
5Amp-
CERS5-
-
-
-
3Gain-
CES1-
-
-
-
3Gain-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
3Gain-
CETN1-
-
-
-
1Loss-
CETP-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP157-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP20-
-
-
-
3Gain-
CFAP221-
-
-
-
1Loss-
CFAP298-
-
-
-
3Gain-
CFAP300-
-
-
-
3Gain-
CFAP410-
-
-
-
3Gain-
CFAP43-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
6Amp-
CFAP54-
-
-
-
3Gain-
CFAP57-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP65-
-
-
-
1Loss-
CFAP69-
-
-
-
1Loss-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
3Gain-
CFAP74-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFAP97D1-
-
-
-
3Gain-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFHp.G1204V
Missense
SNP
1.000
1Loss-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
1Loss-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
1Loss-
CFHR5p.D380E
Missense
SNP
1.000
1Loss-
CFL1-
-
-
-
3Gain-
CFL2-
-
-
-
6Amp-
CFLAR-
-
-
-
1Loss-
CFTR-
-
-
-
1Loss-
CGB3-
-
-
-
1Loss-
CGB5-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAD-
-
-
-
3Gain-
CHAF1A-
-
-
-
1Loss-
CHAF1B-
-
-
-
3Gain-
CHAMP1-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHCHD2-
-
-
-
1Loss-
CHCHD3-
-
-
-
1Loss-
CHCHD4-
-
-
-
3Gain-
CHCHD5-
-
-
-
1Loss-
CHCHD7-
-
-
-
5Amp-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD5-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD7p.T1133R
Missense
SNP
0.282
5Amp-
CHD8-
-
-
-
3Gain-
CHD9-
-
-
-
3Gain-
CHEK1-
-
-
-
3Gain-
CHEK2-
-
-
-
1Loss-
CHERP-
-
-
-
5Amp-
CHFR-
-
-
-
3Gain-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHI3L1-
-
-
-
1Loss-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHIT1-
-
-
-
1Loss-
CHKA-
-
-
-
3Gain-
CHL1p.R787P
Missense
SNP
0.381
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP3-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4Bp.D83H
Missense
SNP
0.072
3Gain-
CHMP4C-
-
-
-
6Amp-
CHMP5-
-
-
-
3Gain-
CHMP6-
-
-
-
3Gain-
CHMP7-
-
-
-
3Gain-
CHN2-
-
-
-
1Loss-
CHODLp.L232R
Missense
SNP
0.508
3Gain-
CHORDC1-
-
-
-
3Gain-
CHP1-
-
-
-
1Loss-
CHP2-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHPF2-
-
-
-
1Loss-
CHPT1-
-
-
-
3Gain-
CHRAC1-
-
-
-
1Loss-
CHRD-
-
-
-
0Del-
CHRDL2-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM1-
-
-
-
3Gain-
CHRM2-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
3Gain-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST10-
-
-
-
3Gain-
CHST11-
-
-
-
3Gain-
CHST12-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST8-
-
-
-
1Loss-
CHST9-
-
-
-
6Amp-
CHSY1-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO1-
-
-
-
1Loss-
CIAO2A-
-
-
-
3Gain-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB2-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
3Gain-
CIITA-
-
-
-
1Loss-
CILP-
-
-
-
3Gain-
CILP2-
-
-
-
3Gain-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISD3-
-
-
-
3Gain-
CITp.G290Wfs*6
Frame_Shift_Ins
INS
0.358
3Gain-
CITED4-
-
-
-
3Gain-
CIZ1-
-
-
-
3Gain-
CKAP2-
-
-
-
1Loss-
CKAP2L-
-
-
-
1Loss-
CKAP4-
-
-
-
3Gain-
CKAP5-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKS1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP1-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCC1-
-
-
-
1Loss-
CLCF1-
-
-
-
3Gain-
CLCN1-
-
-
-
1Loss-
CLCN2-
-
-
-
0Del-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
0Del-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
0Del-
CLDN12-
-
-
-
1Loss-
CLDN14-
-
-
-
3Gain-
CLDN15-
-
-
-
1Loss-
CLDN16-
-
-
-
0Del-
CLDN17-
-
-
-
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
3Gain-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
3Gain-
CLDN3-
-
-
-
1Loss-
CLDN4-
-
-
-
1Loss-
CLDN5-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
3Gain-
CLDND2-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC14A-
-
-
-
15Amp-
CLEC16A-
-
-
-
1Loss-
CLEC17Ap.D248E
Missense
SNP
1.000
3Gain-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC2L-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4G-
-
-
-
3Gain-
CLEC4M-
-
-
-
3Gain-
CLEC5A-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIC6-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLIP2-
-
-
-
1Loss-
CLIP3-
-
-
-
1Loss-
CLK1-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
3Gain-
CLMN-
-
-
-
1Loss-
CLMP-
-
-
-
3Gain-
CLN3-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
3Gain-
CLN8-
-
-
-
3Gain-
CLNS1A-
-
-
-
3Gain-
CLOCK-
-
-
-
0Del-
CLP1-
-
-
-
3Gain-
CLPB-
-
-
-
3Gain-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLPTM1L-
-
-
-
5Amp-
CLPX-
-
-
-
3Gain-
CLRN3-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLTA-
-
-
-
3Gain-
CLTC-
-
-
-
3Gain-
CLTCL1-
-
-
-
3Gain-
CLU-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS1-
-
-
-
5Amp-
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMAS-
-
-
-
3Gain-
CMBL-
-
-
-
5Amp-
CMC1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMKLR1-
-
-
-
3Gain-
CMPK1-
-
-
-
3Gain-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM5-
-
-
-
3Gain-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBD1-
-
-
-
6Amp-
CNBD2-
-
-
-
3Gain-
CNDP1-
-
-
-
6Amp-
CNDP2-
-
-
-
6Amp-
CNEP1R1-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGA2p.R573S
Missense
SNP
1.000
NDND-
CNGA3-
-
-
-
3Gain-
CNGA4-
-
-
-
1Loss-
CNGB1-
-
-
-
3Gain-
CNGB3-
-
-
-
6Amp-
CNIH1-
-
-
-
1Loss-
CNIH2-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN1-
-
-
-
3Gain-
CNN2-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM3-
-
-
-
3Gain-
CNNM4-
-
-
-
3Gain-
CNOT1-
-
-
-
3Gain-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNOT3-
-
-
-
1Loss-
CNOT4-
-
-
-
1Loss-
CNOT7-
-
-
-
3Gain-
CNOT9-
-
-
-
1Loss-
CNP-
-
-
-
3Gain-
CNPPD1-
-
-
-
1Loss-
CNPY1-
-
-
-
1Loss-
CNPY2-
-
-
-
3Gain-
CNPY4-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTD1-
-
-
-
3Gain-
CNTD2-
-
-
-
1Loss-
CNTF-
-
-
-
3Gain-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTN2-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4p.E774Q
p.N781H
Missense
Missense
SNP
SNP
0.263
0.207
3Gain-
CNTN5-
-
-
-
3Gain-
CNTN6p.G712*
Nonsense
SNP
0.455
3Gain-
CNTNAP1-
-
-
-
3Gain-
CNTNAP2-
-
-
-
1Loss-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
CNTNAP5-
-
-
-
1Loss-
CNTRL-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
1Loss-
COA3-
-
-
-
3Gain-
COA4-
-
-
-
3Gain-
COA5-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COA7-
-
-
-
3Gain-
COASY-
-
-
-
3Gain-
COBL-
-
-
-
1Loss-
COCH-
-
-
-
11Amp-
COG1-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
1Loss-
COG6-
-
-
-
3Gain-
COG7-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL13A1-
-
-
-
1Loss-
COL14A1-
-
-
-
4Gain-
COL15A1p.P3T
p.G1002R
Missense
Missense
SNP
SNP
0.392
0.517
3Gain-
COL16A1-
-
-
-
1Loss-
COL17A1-
-
-
-
1Loss-
COL18A1-
-
-
-
3Gain-
COL19A1p.Q43L
Missense
SNP
1.000
2--
COL1A1-
-
-
-
3Gain-
COL1A2-
-
-
-
1Loss-
COL20A1-
-
-
-
3Gain-
COL22A1-
-
-
-
1Loss-
COL24A1p.S1346I
Missense
SNP
0.520
3Gain-
COL26A1-
-
-
-
1Loss-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
1Loss-
COL2A1-
-
-
-
3Gain-
COL3A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL5A3-
-
-
-
5Amp-
COL6A1-
-
-
-
3Gain-
COL6A2-
-
-
-
3Gain-
COL6A6p.X993_splice
p.I1221T
Splice_Site
Missense
SNP
SNP
0.231
0.735
2--
COL8A2-
-
-
-
3Gain-
COL9A2-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COLCA2-
-
-
-
3Gain-
COLEC10-
-
-
-
4Gain-
COLEC11-
-
-
-
1Loss-
COLEC12-
-
-
-
1Loss-
COLGALT1-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD6-
-
-
-
1Loss-
COMMD7-
-
-
-
3Gain-
COMMD9-
-
-
-
1Loss-
COMPp.T529N
Missense
SNP
0.489
3Gain-
COMT-
-
-
-
3Gain-
COMTD1-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
3Gain-
COPG2-
-
-
-
1Loss-
COPRS-
-
-
-
3Gain-
COPS2-
-
-
-
3Gain-
COPS3-
-
-
-
3Gain-
COPS5-
-
-
-
5Amp-
COPS6-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COPS7B-
-
-
-
1Loss-
COPZ1-
-
-
-
3Gain-
COPZ2-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ10B-
-
-
-
1Loss-
COQ4-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
COQ6-
-
-
-
1Loss-
COQ7-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COQ8B-
-
-
-
1Loss-
COQ9-
-
-
-
3Gain-
CORO1A-
-
-
-
1Loss-
CORO1B-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
CORO2A-
-
-
-
3Gain-
CORO2B-
-
-
-
3Gain-
CORO6-
-
-
-
3Gain-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
3Gain-
COX11-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX15-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX19-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX4I2-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
COX5B-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX6A2-
-
-
-
1Loss-
COX6B1-
-
-
-
1Loss-
COX6B2-
-
-
-
1Loss-
COX6C-
-
-
-
4Gain-
COX7A1-
-
-
-
1Loss-
COX8A-
-
-
-
3Gain-
COX8C-
-
-
-
1Loss-
CPA1-
-
-
-
1Loss-
CPA2-
-
-
-
1Loss-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPA6-
-
-
-
5Amp-
CPAMD8-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPD-
-
-
-
3Gain-
CPEB1-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPED1-
-
-
-
1Loss-
CPLANE1-
-
-
-
5Amp-
CPLANE2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
6Amp-
CPM-
-
-
-
3Gain-
CPN1-
-
-
-
1Loss-
CPN2-
-
-
-
0Del-
CPNE1-
-
-
-
3Gain-
CPNE2-
-
-
-
3Gain-
CPNE3-
-
-
-
6Amp-
CPNE6-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPNE8-
-
-
-
3Gain-
CPNE9-
-
-
-
3Gain-
CPO-
-
-
-
1Loss-
CPPED1-
-
-
-
1Loss-
CPQ-
-
-
-
6Amp-
CPS1-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CPSF4-
-
-
-
1Loss-
CPSF4L-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPSF7-
-
-
-
3Gain-
CPT1A-
-
-
-
3Gain-
CPT1C-
-
-
-
1Loss-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
3Gain-
CPVL-
-
-
-
1Loss-
CPXM1-
-
-
-
3Gain-
CPXM2-
-
-
-
1Loss-
CPZp.A621G
Missense
SNP
0.367
2--
CR1-
-
-
-
1Loss-
CR1L-
-
-
-
1Loss-
CR2p.L248R
Missense
SNP
1.000
1Loss-
CR392000.1p.V96F
Missense
SNP
0.665
NDND-
CRABP1-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
3Gain-
CRAT-
-
-
-
3Gain-
CRB1-
-
-
-
1Loss-
CRB2-
-
-
-
3Gain-
CRB3-
-
-
-
3Gain-
CRBN-
-
-
-
3Gain-
CRCP-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB3-
-
-
-
3Gain-
CREB3L1-
-
-
-
1Loss-
CREB3L2-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
1Loss-
CREBL2-
-
-
-
1Loss-
CREBZF-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CREG2-
-
-
-
3Gain-
CRELD1-
-
-
-
3Gain-
CREM-
-
-
-
3Gain-
CRH-
-
-
-
5Amp-
CRHR1-
-
-
-
3Gain-
CRHR2-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRISPLD1-
-
-
-
5Amp-
CRISPLD2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRLF1-
-
-
-
3Gain-
CRLF3-
-
-
-
3Gain-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CROT-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC1p.P402L
Missense
SNP
1.000
3Gain-
CRTC2-
-
-
-
3Gain-
CRX-
-
-
-
1Loss-
CRY1-
-
-
-
3Gain-
CRY2-
-
-
-
1Loss-
CRYAA-
-
-
-
3Gain-
CRYAA2-
-
-
-
3Gain-
CRYAB-
-
-
-
3Gain-
CRYBA1-
-
-
-
3Gain-
CRYBA2-
-
-
-
1Loss-
CRYBA4p.Q130H;p.A131S
Missense
MNP
1.000
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGN-
-
-
-
1Loss-
CRYGS-
-
-
-
0Del-
CRYL1-
-
-
-
3Gain-
CRYM-
-
-
-
1Loss-
CRYZ-
-
-
-
3Gain-
CRYZL1-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSF3-
-
-
-
3Gain-
CSF3Rp.X331_splice
Splice_Site
DEL
0.300
3Gain-
CSGALNACT1-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
1Loss-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSK-
-
-
-
1Loss-
CSKMT-
-
-
-
3Gain-
CSMD1p.C2147Y
Missense
SNP
0.534
3Gain-
CSMD3p.Q174K
Missense
SNP
0.537
4Gain-
CSNK1A1L-
-
-
-
3Gain-
CSNK1D-
-
-
-
3Gain-
CSNK1E-
-
-
-
1Loss-
CSNK1G1-
-
-
-
3Gain-
CSNK1G2-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2A2-
-
-
-
3Gain-
CSNK2A3-
-
-
-
1Loss-
CSPG4p.E867K
Missense
SNP
1.000
1Loss-
CSPP1-
-
-
-
5Amp-
CSRNP1-
-
-
-
1Loss-
CSRNP2-
-
-
-
3Gain-
CSRP1-
-
-
-
1Loss-
CSRP2-
-
-
-
3Gain-
CSRP3-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST6-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTB-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
3Gain-
CTAGE1p.L366H
p.S38I
Missense
Missense
SNP
SNP
0.447
0.416
3Gain-
CTAGE15-
-
-
-
1Loss-
CTAGE4-
-
-
-
1Loss-
CTAGE6-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
3Gain-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTD-3074O7.11p.P568_R569insA
In_Frame_Ins
INS
0.300
NDND-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
6Amp-
CTDSP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
3Gain-
CTF1-
-
-
-
1Loss-
CTH-
-
-
-
3Gain-
CTHRC1-
-
-
-
4Gain-
CTIF-
-
-
-
6Amp-
CTLA4-
-
-
-
1Loss-
CTNNA2-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTNND1-
-
-
-
3Gain-
CTNND2-
-
-
-
5Amp-
CTNS-
-
-
-
1Loss-
CTPS1-
-
-
-
3Gain-
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
3Gain-
CTSC-
-
-
-
3Gain-
CTSD-
-
-
-
1Loss-
CTSE-
-
-
-
1Loss-
CTSF-
-
-
-
3Gain-
CTSG-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTSW-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTN-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
1Loss-
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
3Gain-
CTXN2-
-
-
-
3Gain-
CUBNp.E754Q
Missense
SNP
0.492
3Gain-
CUEDC1-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL1-
-
-
-
1Loss-
CUL2-
-
-
-
3Gain-
CUL3-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUL5p.M476I
Missense
SNP
0.382
3Gain-
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
1Loss-
CUX2-
-
-
-
3Gain-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
3Gain-
CWC22-
-
-
-
1Loss-
CWC25-
-
-
-
3Gain-
CWF19L1p.A2S
Missense
SNP
0.984
1Loss-
CWF19L2-
-
-
-
3Gain-
CX3CL1-
-
-
-
3Gain-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
3Gain-
CXCL12-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR5-
-
-
-
3Gain-
CXXC1-
-
-
-
6Amp-
CYB561-
-
-
-
3Gain-
CYB561A3-
-
-
-
3Gain-
CYB561D1-
-
-
-
1Loss-
CYB5A-
-
-
-
6Amp-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5RL-
-
-
-
3Gain-
CYBA-
-
-
-
1Loss-
CYBC1-
-
-
-
3Gain-
CYC1-
-
-
-
1Loss-
CYCS-
-
-
-
1Loss-
CYFIP1-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYLC2-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
1Loss-
CYP11B2-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27B1-
-
-
-
3Gain-
CYP27C1-
-
-
-
1Loss-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2J2-
-
-
-
3Gain-
CYP2R1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP2W1-
-
-
-
1Loss-
CYP3A4-
-
-
-
1Loss-
CYP3A43-
-
-
-
1Loss-
CYP3A5-
-
-
-
1Loss-
CYP3A7-
-
-
-
1Loss-
CYP3A7-CYP3A51P-
-
-
-
1Loss-
CYP46A1-
-
-
-
1Loss-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1-
-
-
-
3Gain-
CYP4F11-
-
-
-
3Gain-
CYP4F12-
-
-
-
6Amp-
CYP4F2-
-
-
-
3Gain-
CYP4F22-
-
-
-
3Gain-
CYP4F3-
-
-
-
3Gain-
CYP4F8-
-
-
-
3Gain-
CYP4V2-
-
-
-
1Loss-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYP51A1-
-
-
-
1Loss-
CYP7A1-
-
-
-
5Amp-
CYP7B1-
-
-
-
5Amp-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
3Gain-
CYREN-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTH1-
-
-
-
3Gain-
CYTH2-
-
-
-
1Loss-
CYTH3-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
CYTIP-
-
-
-
1Loss-
CYYR1-
-
-
-
3Gain-
DAAM1-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DAB2-
-
-
-
5Amp-
DAB2IP-
-
-
-
3Gain-
DACH1-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DACT3p.T237N
Missense
SNP
1.000
1Loss-
DAD1-
-
-
-
3Gain-
DAGLA-
-
-
-
3Gain-
DAGLB-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAO-
-
-
-
3Gain-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
5Amp-
DAP3-
-
-
-
3Gain-
DAPK1p.G1274A
Missense
SNP
0.502
3Gain-
DAPK2-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DAPL1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAW1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBF4-
-
-
-
1Loss-
DBF4B-
-
-
-
3Gain-
DBI-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
1Loss-
DBP-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DBX2-
-
-
-
3Gain-
DCAF10-
-
-
-
3Gain-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
3Gain-
DCAF12L1p.Q380E
Missense
SNP
1.000
NDND-
DCAF13-
-
-
-
4Gain-
DCAF15-
-
-
-
3Gain-
DCAF4-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF4L2p.C145*
Nonsense
SNP
0.999
6Amp-
DCAF5-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF7-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCAKD-
-
-
-
3Gain-
DCC-
-
-
-
6Amp-
DCD-
-
-
-
3Gain-
DCDC1-
-
-
-
1Loss-
DCDC2B-
-
-
-
1Loss-
DCDC2Cp.G178V
Missense
SNP
1.000
1Loss-
DCHS1-
-
-
-
1Loss-
DCLK1-
-
-
-
3Gain-
DCLK3-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCP1B-
-
-
-
1Loss-
DCPS-
-
-
-
3Gain-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
4Gain-
DCT-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN2-
-
-
-
3Gain-
DCTN3-
-
-
-
3Gain-
DCTN5-
-
-
-
1Loss-
DCTN6-
-
-
-
3Gain-
DCTPP1-
-
-
-
1Loss-
DCUN1D1-
-
-
-
0Del-
DCUN1D2-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DCUN1D5-
-
-
-
3Gain-
DCXR-
-
-
-
3Gain-
DDA1-
-
-
-
3Gain-
DDAH1-
-
-
-
3Gain-
DDB1-
-
-
-
3Gain-
DDB2-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDI1-
-
-
-
3Gain-
DDI2-
-
-
-
1Loss-
DDIAS-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
3Gain-
DDOST-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX10-
-
-
-
3Gain-
DDX17-
-
-
-
1Loss-
DDX18-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX20-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
3Gain-
DDX24-
-
-
-
1Loss-
DDX25-
-
-
-
3Gain-
DDX27-
-
-
-
3Gain-
DDX28-
-
-
-
1Loss-
DDX39A-
-
-
-
3Gain-
DDX42-
-
-
-
3Gain-
DDX47-
-
-
-
1Loss-
DDX49-
-
-
-
3Gain-
DDX5-
-
-
-
3Gain-
DDX50-
-
-
-
1Loss-
DDX51-
-
-
-
3Gain-
DDX52-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX56-
-
-
-
1Loss-
DDX58-
-
-
-
3Gain-
DDX59-
-
-
-
1Loss-
DDX6-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEC1-
-
-
-
3Gain-
DECR1-
-
-
-
8Amp-
DEDD-
-
-
-
3Gain-
DEDD2-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
3Gain-
DEFA5-
-
-
-
3Gain-
DEFA6-
-
-
-
3Gain-
DEFB1-
-
-
-
3Gain-
DEFB103A-
-
-
-
3Gain-
DEFB103B-
-
-
-
3Gain-
DEFB104A-
-
-
-
3Gain-
DEFB104B-
-
-
-
3Gain-
DEFB105A-
-
-
-
3Gain-
DEFB105B-
-
-
-
3Gain-
DEFB106A-
-
-
-
3Gain-
DEFB106B-
-
-
-
3Gain-
DEFB107A-
-
-
-
3Gain-
DEFB107B-
-
-
-
3Gain-
DEFB115-
-
-
-
1Loss-
DEFB116-
-
-
-
1Loss-
DEFB118-
-
-
-
1Loss-
DEFB119-
-
-
-
1Loss-
DEFB121-
-
-
-
1Loss-
DEFB123-
-
-
-
1Loss-
DEFB124-
-
-
-
1Loss-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DENND1A-
-
-
-
3Gain-
DENND1B-
-
-
-
1Loss-
DENND1C-
-
-
-
3Gain-
DENND2A-
-
-
-
1Loss-
DENND2Cp.M625K
Missense
SNP
0.982
1Loss-
DENND2D-
-
-
-
1Loss-
DENND3-
-
-
-
1Loss-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENR-
-
-
-
3Gain-
DEPDC1-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DEPDC5-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
4Gain-
DERA-
-
-
-
1Loss-
DERL1-
-
-
-
4Gain-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
3Gain-
DES-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
1Loss-
DEUP1-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGAT2-
-
-
-
3Gain-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKB-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
0Del-
DGKH-
-
-
-
3Gain-
DGKI-
-
-
-
1Loss-
DGKKp.G579V
Missense
SNP
1.000
NDND-
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHCR24-
-
-
-
3Gain-
DHCR7-
-
-
-
3Gain-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHH-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS11-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS13-
-
-
-
3Gain-
DHRS2-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS7B-
-
-
-
3Gain-
DHRS7C-
-
-
-
1Loss-
DHTKD1-
-
-
-
3Gain-
DHX29p.L1069F
Missense
SNP
1.000
2--
DHX32-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX34-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX37-
-
-
-
3Gain-
DHX38-
-
-
-
1Loss-
DHX40p.X183_splice
Splice_Site
SNP
0.457
3Gain-
DHX58-
-
-
-
3Gain-
DHX8-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIAPH3-
-
-
-
3Gain-
DICER1p.K902N
Missense
SNP
1.000
1Loss-
DIDO1-
-
-
-
3Gain-
DIO1-
-
-
-
3Gain-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2A-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DIRAS1-
-
-
-
1Loss-
DIRAS2-
-
-
-
3Gain-
DIRAS3-
-
-
-
3Gain-
DIRC1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DIS3L2-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DIXDC1-
-
-
-
3Gain-
DKK1-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLAT-
-
-
-
3Gain-
DLC1p.X439_splice
Splice_Site
SNP
0.505
3Gain-
DLD-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
0Del-
DLG2-
-
-
-
3Gain-
DLG4-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DLGAP2-
-
-
-
3Gain-
DLGAP4-
-
-
-
3Gain-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL1p.P514A
Missense
SNP
1.000
2--
DLL3p.C77R
Missense
SNP
1.000
1Loss-
DLL4-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DLX5-
-
-
-
1Loss-
DLX6-
-
-
-
1Loss-
DMAC1-
-
-
-
3Gain-
DMAC2-
-
-
-
1Loss-
DMAP1-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMBX1-
-
-
-
3Gain-
DMC1-
-
-
-
1Loss-
DMDp.P1906A
Missense
SNP
0.992
NDND-
DMKN-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DMRTC2-
-
-
-
1Loss-
DMTF1-
-
-
-
1Loss-
DMTNp.P196Rfs*35
Frame_Shift_Del
DEL
0.412
3Gain-
DMWD-
-
-
-
1Loss-
DMXL2-
-
-
-
3Gain-
DNA2-
-
-
-
1Loss-
DNAAF1-
-
-
-
3Gain-
DNAAF2-
-
-
-
1Loss-
DNAAF3p.R157Pfs*131
Frame_Shift_Ins
INS
0.467
1Loss-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
1Loss-
DNAH10-
-
-
-
3Gain-
DNAH11-
-
-
-
1Loss-
DNAH14-
-
-
-
3Gain-
DNAH17-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH3-
-
-
-
1Loss-
DNAH5-
-
-
-
5Amp-
DNAH6-
-
-
-
1Loss-
DNAH7-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB1-
-
-
-
3Gain-
DNAJB11-
-
-
-
0Del-
DNAJB12-
-
-
-
1Loss-
DNAJB13-
-
-
-
3Gain-
DNAJB2-
-
-
-
1Loss-
DNAJB4-
-
-
-
3Gain-
DNAJB5-
-
-
-
3Gain-
DNAJB6-
-
-
-
1Loss-
DNAJB9-
-
-
-
1Loss-
DNAJC1-
-
-
-
3Gain-
DNAJC10-
-
-
-
1Loss-
DNAJC11-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC14-
-
-
-
3Gain-
DNAJC15-
-
-
-
3Gain-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC19-
-
-
-
0Del-
DNAJC2-
-
-
-
1Loss-
DNAJC21-
-
-
-
5Amp-
DNAJC22-
-
-
-
3Gain-
DNAJC24-
-
-
-
1Loss-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC28-
-
-
-
3Gain-
DNAJC3-
-
-
-
1Loss-
DNAJC30-
-
-
-
1Loss-
DNAJC4p.E81*
Nonsense
SNP
0.440
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
5Amp-
DNAJC6-
-
-
-
3Gain-
DNAJC7-
-
-
-
3Gain-
DNAJC8-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNALI1-
-
-
-
3Gain-
DNASE1L3-
-
-
-
1Loss-
DNASE2B-
-
-
-
3Gain-
DNER-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM1-
-
-
-
3Gain-
DNM2-
-
-
-
5Amp-
DNM3-
-
-
-
3Gain-
DNMBP-
-
-
-
1Loss-
DNMT1-
-
-
-
5Amp-
DNMT3B-
-
-
-
3Gain-
DNMT3L-
-
-
-
3Gain-
DNPEP-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
3Gain-
DOC2A-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK5-
-
-
-
3Gain-
DOCK6-
-
-
-
3Gain-
DOCK7-
-
-
-
3Gain-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK1-
-
-
-
1Loss-
DOK2-
-
-
-
3Gain-
DOK4-
-
-
-
3Gain-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
6Amp-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DONSON-
-
-
-
3Gain-
DOP1B-
-
-
-
3Gain-
DOPEY2p.L491Ffs*6
Frame_Shift_Ins
INS
0.319
NDND-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
3Gain-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPF2-
-
-
-
3Gain-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
3Gain-
DPH3-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPM2-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP10-
-
-
-
1Loss-
DPP3-
-
-
-
3Gain-
DPP4-
-
-
-
1Loss-
DPP6-
-
-
-
1Loss-
DPP8-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
1Loss-
DPY19L2-
-
-
-
3Gain-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
6Amp-
DPYS-
-
-
-
4Gain-
DPYSL2-
-
-
-
3Gain-
DPYSL4-
-
-
-
1Loss-
DQX1-
-
-
-
1Loss-
DRAM1-
-
-
-
3Gain-
DRAM2-
-
-
-
1Loss-
DRAP1-
-
-
-
3Gain-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
3Gain-
DRC7-
-
-
-
3Gain-
DRD2-
-
-
-
3Gain-
DRD4-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
3Gain-
DRGX-
-
-
-
1Loss-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
5Amp-
DSC1-
-
-
-
6Amp-
DSC2-
-
-
-
6Amp-
DSC3-
-
-
-
6Amp-
DSCAM-
-
-
-
3Gain-
DSCAML1p.A1044S
Missense
SNP
0.454
3Gain-
DSCC1-
-
-
-
4Gain-
DSEL-
-
-
-
6Amp-
DSG1-
-
-
-
6Amp-
DSG2-
-
-
-
6Amp-
DSG3-
-
-
-
6Amp-
DSG4-
-
-
-
6Amp-
DSN1-
-
-
-
3Gain-
DSTN-
-
-
-
3Gain-
DSTYK-
-
-
-
1Loss-
DTD1-
-
-
-
3Gain-
DTD2-
-
-
-
11Amp-
DTHD1-
-
-
-
1Loss-
DTL-
-
-
-
1Loss-
DTNA-
-
-
-
6Amp-
DTWD1-
-
-
-
3Gain-
DTX1-
-
-
-
3Gain-
DTX2-
-
-
-
1Loss-
DTX3-
-
-
-
3Gain-
DTX4-
-
-
-
3Gain-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1-
-
-
-
3Gain-
DUOXA2-
-
-
-
3Gain-
DUPD1-
-
-
-
1Loss-
DUS1L-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUS4L-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP13-
-
-
-
1Loss-
DUSP14-
-
-
-
3Gain-
DUSP15-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP3-
-
-
-
3Gain-
DUSP4-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP6p.G217D
Missense
SNP
0.364
3Gain-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
3Gain-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
0Del-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
6Amp-
DYNAP-
-
-
-
6Amp-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
3Gain-
DYNLL1-
-
-
-
3Gain-
DYNLL2-
-
-
-
3Gain-
DYNLRB1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DYRK1A-
-
-
-
3Gain-
DYRK1B-
-
-
-
1Loss-
DYRK2-
-
-
-
3Gain-
DYRK3-
-
-
-
1Loss-
DYRK4-
-
-
-
1Loss-
DYTN-
-
-
-
1Loss-
DZANK1-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
DZIP3p.K805Y
Missense
MNP
0.636
2--
E2F1-
-
-
-
3Gain-
E2F2-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
E2F5-
-
-
-
5Amp-
E2F7-
-
-
-
3Gain-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
3Gain-
EAPP-
-
-
-
6Amp-
EARS2-
-
-
-
1Loss-
EBAG9-
-
-
-
4Gain-
EBF2-
-
-
-
3Gain-
EBF3p.P177H
Missense
SNP
0.980
1Loss-
EBF4-
-
-
-
3Gain-
EBI3-
-
-
-
1Loss-
EBLN1-
-
-
-
3Gain-
EBLN2-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
3Gain-
EBPL-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECE2-
-
-
-
0Del-
ECH1-
-
-
-
1Loss-
ECHDC2-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSIT-
-
-
-
3Gain-
ECT2-
-
-
-
0Del-
EDAR-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDEM1-
-
-
-
3Gain-
EDEM2p.P32L
Missense
SNP
0.539
3Gain-
EDEM3-
-
-
-
3Gain-
EDN2-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDNRBp.Q357H
Missense
SNP
1.000
1Loss-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
3Gain-
EED-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
0Del-
EEF1AKMT4-ECE2-
-
-
-
0Del-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
1Loss-
EEF1G-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EEF2KMT-
-
-
-
1Loss-
EEPD1-
-
-
-
1Loss-
EFCAB1-
-
-
-
5Amp-
EFCAB10-
-
-
-
1Loss-
EFCAB11-
-
-
-
1Loss-
EFCAB13-
-
-
-
3Gain-
EFCAB14-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB5-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB8-
-
-
-
3Gain-
EFEMP2-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
3Gain-
EFTUD2-
-
-
-
3Gain-
EGFLAM-
-
-
-
5Amp-
EGFR-
-
-
-
1Loss-
EGLN1-
-
-
-
3Gain-
EGLN2-
-
-
-
1Loss-
EGLN3-
-
-
-
6Amp-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
3Gain-
EHBP1L1-
-
-
-
3Gain-
EHD1-
-
-
-
3Gain-
EHD2-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHHADH-
-
-
-
0Del-
EI24-
-
-
-
3Gain-
EID1-
-
-
-
3Gain-
EID2-
-
-
-
1Loss-
EID2B-
-
-
-
1Loss-
EID3-
-
-
-
3Gain-
EIF1-
-
-
-
3Gain-
EIF1AD-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2AK1-
-
-
-
1Loss-
EIF2AK3-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B1-
-
-
-
3Gain-
EIF2B2-
-
-
-
1Loss-
EIF2B3-
-
-
-
3Gain-
EIF2B5-
-
-
-
0Del-
EIF2D-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3B-
-
-
-
1Loss-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3E-
-
-
-
4Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
5Amp-
EIF3H-
-
-
-
4Gain-
EIF3I-
-
-
-
1Loss-
EIF3J-
-
-
-
3Gain-
EIF3K-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
0Del-
EIF4A3-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
0Del-
EIF4G2-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF4H-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
0Del-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
3Gain-
EIF6-
-
-
-
3Gain-
EIPR1-
-
-
-
1Loss-
ELAC1-
-
-
-
6Amp-
ELAC2-
-
-
-
3Gain-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
3Gain-
ELAVL2p.A182D
Missense
SNP
0.558
3Gain-
ELAVL3-
-
-
-
3Gain-
ELAVL4-
-
-
-
3Gain-
ELF1-
-
-
-
3Gain-
ELF3-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELFN1-
-
-
-
1Loss-
ELFN2-
-
-
-
1Loss-
ELK3-
-
-
-
3Gain-
ELK4-
-
-
-
1Loss-
ELL-
-
-
-
3Gain-
ELL3-
-
-
-
3Gain-
ELMO1-
-
-
-
1Loss-
ELMO2-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELMOD1-
-
-
-
3Gain-
ELMOD3-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELN-
-
-
-
1Loss-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
6Amp-
ELOA3-
-
-
-
6Amp-
ELOA3B-
-
-
-
6Amp-
ELOA3D-
-
-
-
6Amp-
ELOC-
-
-
-
5Amp-
ELOF1-
-
-
-
3Gain-
ELOVL1-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
6Amp-
ELP3-
-
-
-
3Gain-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELSPBP1-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC2-
-
-
-
4Gain-
EMC3-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EME1-
-
-
-
3Gain-
EMG1-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EML2-
-
-
-
1Loss-
EML3-
-
-
-
3Gain-
EML5-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMP2-
-
-
-
1Loss-
EMP3-
-
-
-
1Loss-
EMSY-
-
-
-
3Gain-
EMX2-
-
-
-
1Loss-
EN1-
-
-
-
1Loss-
EN2-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENDOD1-
-
-
-
3Gain-
ENDOG-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENDOV-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENGASE-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENKD1-
-
-
-
1Loss-
ENKUR-
-
-
-
3Gain-
ENO2-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
3Gain-
ENPP2-
-
-
-
4Gain-
ENPP6-
-
-
-
1Loss-
ENPP7-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
3Gain-
ENTPD5-
-
-
-
1Loss-
ENTPD6-
-
-
-
3Gain-
ENTPD7-
-
-
-
1Loss-
ENY2-
-
-
-
4Gain-
EOGT-
-
-
-
1Loss-
EOMESp.L156M
Missense
SNP
0.961
1Loss-
EP400-
-
-
-
3Gain-
EPB41-
-
-
-
1Loss-
EPB41L1-
-
-
-
3Gain-
EPB41L3-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPB41L5-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPC1-
-
-
-
3Gain-
EPC2-
-
-
-
1Loss-
EPDR1-
-
-
-
1Loss-
EPG5p.D1567Y
Missense
SNP
0.219
6Amp-
EPHA1-
-
-
-
1Loss-
EPHA10-
-
-
-
3Gain-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHB3-
-
-
-
0Del-
EPHB4-
-
-
-
1Loss-
EPHB6-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPHX3-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPN2-
-
-
-
3Gain-
EPN3-
-
-
-
3Gain-
EPO-
-
-
-
1Loss-
EPOP-
-
-
-
3Gain-
EPOR-
-
-
-
3Gain-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
1Loss-
EPRS-
-
-
-
1Loss-
EPS15-
-
-
-
3Gain-
EPS15L1-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPS8L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
3Gain-
EPX-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERAL1-
-
-
-
3Gain-
ERBB2-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERBB4-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC3-
-
-
-
1Loss-
ERCC4-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERCC6L2-
-
-
-
3Gain-
ERF-
-
-
-
1Loss-
ERG-
-
-
-
3Gain-
ERG28-
-
-
-
1Loss-
ERGIC2-
-
-
-
3Gain-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
3Gain-
ERI2-
-
-
-
1Loss-
ERI3-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH3-
-
-
-
3Gain-
ERICH4-
-
-
-
1Loss-
ERICH5-
-
-
-
6Amp-
ERICH6B-
-
-
-
3Gain-
ERLIN1-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMAP-
-
-
-
3Gain-
ERMN-
-
-
-
1Loss-
ERMP1-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERN2-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERV3-1-
-
-
-
1Loss-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
3Gain-
ESCO1p.V242L
Missense
SNP
0.417
3Gain-
ESCO2-
-
-
-
3Gain-
ESD-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESPN-
-
-
-
3Gain-
ESR1p.S47R
Missense
SNP
0.952
2--
ESR2-
-
-
-
1Loss-
ESRP1-
-
-
-
6Amp-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
3Gain-
ESRRB-
-
-
-
1Loss-
ESRRG-
-
-
-
1Loss-
ESS2-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ESYT2-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETFB-
-
-
-
1Loss-
ETFRF1-
-
-
-
3Gain-
ETHE1-
-
-
-
1Loss-
ETNK1-
-
-
-
3Gain-
ETNK2-
-
-
-
1Loss-
ETS1-
-
-
-
3Gain-
ETS2-
-
-
-
3Gain-
ETV1-
-
-
-
1Loss-
ETV2-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV4-
-
-
-
3Gain-
ETV5-
-
-
-
0Del-
ETV6-
-
-
-
1Loss-
EVA1A-
-
-
-
1Loss-
EVA1B-
-
-
-
3Gain-
EVA1C-
-
-
-
3Gain-
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVI5L-
-
-
-
3Gain-
EVL-
-
-
-
1Loss-
EVPL-
-
-
-
3Gain-
EVPLL-
-
-
-
3Gain-
EVX1-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXO5-
-
-
-
3Gain-
EXOC1-
-
-
-
0Del-
EXOC1L-
-
-
-
0Del-
EXOC3-
-
-
-
5Amp-
EXOC3L1-
-
-
-
1Loss-
EXOC3L2-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
1Loss-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOC7-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC3-
-
-
-
3Gain-
EXOSC4-
-
-
-
1Loss-
EXOSC5-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
3Gain-
EXPH5-
-
-
-
3Gain-
EXT1-
-
-
-
4Gain-
EXT2-
-
-
-
1Loss-
EXTL1-
-
-
-
1Loss-
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
5Amp-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
1Loss-
EYSp.S543R
Missense
SNP
1.000
2--
EZH1-
-
-
-
3Gain-
EZH2-
-
-
-
1Loss-
F10-
-
-
-
1Loss-
F11-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F2RL3-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAH-
-
-
-
3Gain-
FAAP100-
-
-
-
3Gain-
FAAP20-
-
-
-
3Gain-
FAAP24-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FABP12-
-
-
-
6Amp-
FABP3-
-
-
-
1Loss-
FABP4-
-
-
-
6Amp-
FABP5-
-
-
-
6Amp-
FABP9-
-
-
-
6Amp-
FADD-
-
-
-
3Gain-
FADS1-
-
-
-
3Gain-
FADS2-
-
-
-
3Gain-
FADS3-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAF1-
-
-
-
3Gain-
FAH-
-
-
-
1Loss-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
3Gain-
FAIM2-
-
-
-
3Gain-
FAM102A-
-
-
-
3Gain-
FAM102B-
-
-
-
1Loss-
FAM104A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
5Amp-
FAM110C-
-
-
-
1Loss-
FAM110D-
-
-
-
1Loss-
FAM111A-
-
-
-
3Gain-
FAM111B-
-
-
-
3Gain-
FAM114A1-
-
-
-
1Loss-
FAM117A-
-
-
-
3Gain-
FAM117B-
-
-
-
1Loss-
FAM118B-
-
-
-
3Gain-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126A-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM129B-
-
-
-
3Gain-
FAM129C-
-
-
-
3Gain-
FAM131A-
-
-
-
0Del-
FAM131B-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
1Loss-
FAM135B-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149Ap.G191V
Missense
SNP
1.000
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151A-
-
-
-
3Gain-
FAM155A-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM160B2-
-
-
-
3Gain-
FAM161B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM166B-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM167B-
-
-
-
1Loss-
FAM168A-
-
-
-
3Gain-
FAM168B-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM171A2-
-
-
-
3Gain-
FAM171B-
-
-
-
1Loss-
FAM173B-
-
-
-
5Amp-
FAM177A1-
-
-
-
6Amp-
FAM177B-
-
-
-
3Gain-
FAM178B-
-
-
-
3Gain-
FAM179Bp.M1448I
Missense
SNP
0.784
NDND-
FAM180A-
-
-
-
1Loss-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM181B-
-
-
-
3Gain-
FAM183A-
-
-
-
3Gain-
FAM185A-
-
-
-
1Loss-
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM187A-
-
-
-
3Gain-
FAM187B-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189A2-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM192A-
-
-
-
3Gain-
FAM196Bp.V166M
Missense
SNP
1.000
NDND-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM19A3-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM200A-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM205C-
-
-
-
3Gain-
FAM206A-
-
-
-
3Gain-
FAM207A-
-
-
-
3Gain-
FAM208B-
-
-
-
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20A-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
1Loss-
FAM210A-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM216B-
-
-
-
3Gain-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM220A-
-
-
-
1Loss-
FAM221A-
-
-
-
1Loss-
FAM221B-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM222B-
-
-
-
3Gain-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
3Gain-
FAM234B-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM243A-
-
-
-
3Gain-
FAM243B-
-
-
-
3Gain-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3B-
-
-
-
3Gain-
FAM3C-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
0Del-
FAM43B-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM47Bp.V638L
Missense
SNP
1.000
NDND-
FAM49B-
-
-
-
4Gain-
FAM53B-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM57B-
-
-
-
1Loss-
FAM69C-
-
-
-
6Amp-
FAM71A-
-
-
-
1Loss-
FAM71C-
-
-
-
3Gain-
FAM71D-
-
-
-
1Loss-
FAM71E1-
-
-
-
1Loss-
FAM71E2-
-
-
-
1Loss-
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM76A-
-
-
-
1Loss-
FAM76B-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM83A-
-
-
-
4Gain-
FAM83Cp.T639S
Missense
SNP
0.501
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83E-
-
-
-
1Loss-
FAM83G-
-
-
-
3Gain-
FAM83H-
-
-
-
1Loss-
FAM84B-
-
-
-
4Gain-
FAM86C1-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
3Gain-
FAM91A1-
-
-
-
4Gain-
FAM92A-
-
-
-
6Amp-
FAM92B-
-
-
-
1Loss-
FAM95C-
-
-
-
3Gain-
FAM98B-
-
-
-
1Loss-
FAM98C-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCC-
-
-
-
3Gain-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
3Gain-
FANCM-
-
-
-
8Amp-
FANK1-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FAR2p.N396K
Missense
SNP
0.434
3Gain-
FARP1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASN-
-
-
-
3Gain-
FASTK-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FASTKD3-
-
-
-
5Amp-
FASTKD5-
-
-
-
3Gain-
FAT1p.C281W
Missense
SNP
1.000
1Loss-
FAT3-
-
-
-
3Gain-
FAU-
-
-
-
3Gain-
FBF1-
-
-
-
3Gain-
FBH1-
-
-
-
3Gain-
FBL-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLN1p.S447R
Missense
SNP
1.000
2--
FBLN2-
-
-
-
3Gain-
FBLN5-
-
-
-
1Loss-
FBLN7-
-
-
-
1Loss-
FBN1-
-
-
-
3Gain-
FBN2p.G1570C
Missense
SNP
0.965
2--
FBN3-
-
-
-
3Gain-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBRS-
-
-
-
1Loss-
FBRSL1-
-
-
-
3Gain-
FBXL12-
-
-
-
5Amp-
FBXL13-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL18-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
3Gain-
FBXL22-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL7-
-
-
-
5Amp-
FBXL8-
-
-
-
1Loss-
FBXO10-
-
-
-
3Gain-
FBXO15-
-
-
-
6Amp-
FBXO16-
-
-
-
3Gain-
FBXO17-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO21-
-
-
-
3Gain-
FBXO22-
-
-
-
1Loss-
FBXO24-
-
-
-
1Loss-
FBXO25-
-
-
-
3Gain-
FBXO27-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO3-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
4Gain-
FBXO33-
-
-
-
10Amp-
FBXO34-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
5Amp-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
4Gain-
FBXO44-
-
-
-
1Loss-
FBXO45-
-
-
-
0Del-
FBXO46-
-
-
-
1Loss-
FBXO47-
-
-
-
3Gain-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXW10-
-
-
-
3Gain-
FBXW2-
-
-
-
3Gain-
FBXW4-
-
-
-
1Loss-
FBXW8-
-
-
-
3Gain-
FCAMR-
-
-
-
1Loss-
FCAR-
-
-
-
1Loss-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCER2-
-
-
-
3Gain-
FCF1-
-
-
-
1Loss-
FCGBP-
-
-
-
1Loss-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
1Loss-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
3Gain-
FCHSD2-
-
-
-
3Gain-
FCMR-
-
-
-
1Loss-
FCN3-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDFT1p.E123K
Missense
SNP
0.514
3Gain-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
3Gain-
FDX2-
-
-
-
5Amp-
FDXACB1-
-
-
-
3Gain-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
6Amp-
FEM1A-
-
-
-
1Loss-
FEM1B-
-
-
-
3Gain-
FEN1-
-
-
-
3Gain-
FERp.E278K
Missense
SNP
1.000
2--
FER1L5-
-
-
-
3Gain-
FER1L6-
-
-
-
4Gain-
FERD3L-
-
-
-
1Loss-
FERMT1-
-
-
-
3Gain-
FERMT2-
-
-
-
1Loss-
FERMT3-
-
-
-
3Gain-
FETUB-
-
-
-
0Del-
FEV-
-
-
-
1Loss-
FEZ1-
-
-
-
3Gain-
FEZF1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD5-
-
-
-
3Gain-
FGD6-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
0Del-
FGF14-
-
-
-
1Loss-
FGF17-
-
-
-
3Gain-
FGF19-
-
-
-
3Gain-
FGF20-
-
-
-
3Gain-
FGF21-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF3-
-
-
-
3Gain-
FGF4-
-
-
-
3Gain-
FGF6-
-
-
-
1Loss-
FGF7-
-
-
-
3Gain-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
3Gain-
FGFBP3-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
3Gain-
FGFR2-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGL1-
-
-
-
3Gain-
FGL2-
-
-
-
1Loss-
FGR-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL2-
-
-
-
1Loss-
FHL3-
-
-
-
3Gain-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
6Amp-
FIBIN-
-
-
-
1Loss-
FIBP-
-
-
-
3Gain-
FICD-
-
-
-
3Gain-
FIGNp.G552A
Missense
SNP
0.987
2--
FIGNL1-
-
-
-
1Loss-
FIGNL2-
-
-
-
3Gain-
FIS1-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FIZ1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP10-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP14-
-
-
-
1Loss-
FKBP15-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP2-
-
-
-
3Gain-
FKBP3-
-
-
-
8Amp-
FKBP4-
-
-
-
1Loss-
FKBP6-
-
-
-
1Loss-
FKBP8-
-
-
-
3Gain-
FKBP9-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FKTN-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
3Gain-
FLGp.G1229R
Missense
SNP
0.499
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
3Gain-
FLII-
-
-
-
3Gain-
FLNC-
-
-
-
1Loss-
FLOT2-
-
-
-
3Gain-
FLRT1p.L439M
Missense
SNP
0.496
3Gain-
FLRT2p.W454L
Missense
SNP
0.952
1Loss-
FLRT3-
-
-
-
3Gain-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FLT3LG-
-
-
-
1Loss-
FLVCR1-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FMC1-
-
-
-
1Loss-
FMN1-
-
-
-
1Loss-
FMN2p.G928*
Nonsense
SNP
1.000
3Gain-
FMNL1-
-
-
-
3Gain-
FMNL2-
-
-
-
1Loss-
FMNL3-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
1Loss-
FN1-
-
-
-
1Loss-
FN3K-
-
-
-
3Gain-
FN3KRP-
-
-
-
3Gain-
FNBP1-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
0Del-
FNDC7-
-
-
-
1Loss-
FNDC8-
-
-
-
3Gain-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
3Gain-
FOLH1-
-
-
-
1Loss-
FOLR1-
-
-
-
3Gain-
FOLR2-
-
-
-
3Gain-
FOLR3-
-
-
-
3Gain-
FOPNL-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSB-
-
-
-
1Loss-
FOSL1-
-
-
-
3Gain-
FOXA1-
-
-
-
15Amp-
FOXA2-
-
-
-
3Gain-
FOXA3-
-
-
-
1Loss-
FOXB1-
-
-
-
3Gain-
FOXB2-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXF1-
-
-
-
1Loss-
FOXG1-
-
-
-
11Amp-
FOXI2-
-
-
-
1Loss-
FOXI3-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXJ2-
-
-
-
1Loss-
FOXJ3-
-
-
-
3Gain-
FOXK1-
-
-
-
1Loss-
FOXK2-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXM1-
-
-
-
1Loss-
FOXN1-
-
-
-
3Gain-
FOXN3-
-
-
-
1Loss-
FOXN4-
-
-
-
3Gain-
FOXO1-
-
-
-
3Gain-
FOXO6-
-
-
-
3Gain-
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FOXR1-
-
-
-
3Gain-
FOXRED1-
-
-
-
3Gain-
FOXRED2-
-
-
-
1Loss-
FOXS1-
-
-
-
1Loss-
FP565260.1-
-
-
-
3Gain-
FP565260.2-
-
-
-
3Gain-
FP565260.3-
-
-
-
3Gain-
FP565260.4-
-
-
-
3Gain-
FP565260.6-
-
-
-
3Gain-
FPGS-
-
-
-
3Gain-
FPGTp.D265Y
Missense
SNP
0.535
3Gain-
FPGT-TNNI3K-
-
-
-
3Gain-
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FRA10AC1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM1-
-
-
-
3Gain-
FREM2-
-
-
-
3Gain-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD4A-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
3Gain-
FRMD6-
-
-
-
1Loss-
FRMD8-
-
-
-
3Gain-
FRMPD1-
-
-
-
3Gain-
FRMPD2-
-
-
-
1Loss-
FRRS1p.L417I
Missense
SNP
0.288
2--
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FRZB-
-
-
-
1Loss-
FSBP-
-
-
-
6Amp-
FSCB-
-
-
-
8Amp-
FSCN1-
-
-
-
1Loss-
FSCN2-
-
-
-
3Gain-
FSCN3-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSD1L-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSHB-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSIP2-
-
-
-
1Loss-
FSTL3-
-
-
-
3Gain-
FTCD-
-
-
-
3Gain-
FTCDNL1-
-
-
-
1Loss-
FTH1-
-
-
-
3Gain-
FTL-
-
-
-
1Loss-
FTO-
-
-
-
3Gain-
FTSJ3-
-
-
-
3Gain-
FUBP1-
-
-
-
3Gain-
FUCA1-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FUT1-
-
-
-
1Loss-
FUT10-
-
-
-
3Gain-
FUT11-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT4-
-
-
-
3Gain-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FUZ-
-
-
-
1Loss-
FXN-
-
-
-
3Gain-
FXR1-
-
-
-
0Del-
FXR2-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD2-
-
-
-
3Gain-
FXYD3-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD6-
-
-
-
3Gain-
FXYD6-FXYD2-
-
-
-
3Gain-
FXYD7-
-
-
-
1Loss-
FYB1-
-
-
-
5Amp-
FYB2-
-
-
-
3Gain-
FYTTD1-
-
-
-
0Del-
FZD1-
-
-
-
1Loss-
FZD10-
-
-
-
3Gain-
FZD2-
-
-
-
3Gain-
FZD3-
-
-
-
3Gain-
FZD4-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD6-
-
-
-
4Gain-
FZD7-
-
-
-
1Loss-
FZD8-
-
-
-
3Gain-
FZD9-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
1Loss-
G2E3-
-
-
-
11Amp-
G6PC-
-
-
-
3Gain-
G6PC3-
-
-
-
3Gain-
GAA-
-
-
-
3Gain-
GAB2-
-
-
-
3Gain-
GAB4-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPA-
-
-
-
3Gain-
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA5p.P131S
Missense
SNP
0.438
3Gain-
GABRB3-
-
-
-
3Gain-
GABRD-
-
-
-
3Gain-
GABRG3p.P450N
Missense
MNP
0.466
3Gain-
GAD2-
-
-
-
3Gain-
GADD45A-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GADD45G-
-
-
-
3Gain-
GADD45GIP1-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAL-
-
-
-
3Gain-
GAL3ST1-
-
-
-
1Loss-
GAL3ST3-
-
-
-
3Gain-
GAL3ST4-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK1-
-
-
-
3Gain-
GALK2-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
6Amp-
GALNT11-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT13-
-
-
-
1Loss-
GALNT15p.M268R
Missense
SNP
1.000
1Loss-
GALNT16-
-
-
-
1Loss-
GALNT17-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALNT5-
-
-
-
1Loss-
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
1Loss-
GALNT9-
-
-
-
3Gain-
GALNTL5-
-
-
-
1Loss-
GALP-
-
-
-
1Loss-
GALR1p.L211Pfs*13
Frame_Shift_Del
DEL
0.507
6Amp-
GALR2-
-
-
-
3Gain-
GALR3-
-
-
-
1Loss-
GALT-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GANAB-
-
-
-
3Gain-
GANC-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAPDHS-
-
-
-
1Loss-
GAPVD1-
-
-
-
3Gain-
GAREM1-
-
-
-
6Amp-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
1Loss-
GART-
-
-
-
3Gain-
GAS1p.D129H
Missense
SNP
0.380
3Gain-
GAS2-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS2L2-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GAST-
-
-
-
3Gain-
GATA3-
-
-
-
3Gain-
GATA4-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD1-
-
-
-
1Loss-
GATAD2A-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
3Gain-
GATD3B-
-
-
-
3Gain-
GATM-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBE1-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBGT1p.E198*
Nonsense
SNP
0.327
2--
GBP1-
-
-
-
3Gain-
GBP2-
-
-
-
3Gain-
GBP3-
-
-
-
3Gain-
GBP4-
-
-
-
3Gain-
GBP5-
-
-
-
3Gain-
GBP6-
-
-
-
3Gain-
GBP7-
-
-
-
3Gain-
GBX1-
-
-
-
1Loss-
GCp.X177_splice
Splice_Site
SNP
0.343
2--
GCA-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
1Loss-
GCC2-
-
-
-
1Loss-
GCDH-
-
-
-
3Gain-
GCFC2-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCGR-
-
-
-
3Gain-
GCH1-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCK-
-
-
-
1Loss-
GCN1-
-
-
-
3Gain-
GCNT1-
-
-
-
3Gain-
GCNT3-
-
-
-
3Gain-
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
3Gain-
GCSAML-
-
-
-
5Amp-
GCSAML-AS1-
-
-
-
5Amp-
GCSH-
-
-
-
1Loss-
GDA-
-
-
-
3Gain-
GDAP1-
-
-
-
5Amp-
GDAP1L1-
-
-
-
3Gain-
GDAP2-
-
-
-
1Loss-
GDE1-
-
-
-
1Loss-
GDF1-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF11-
-
-
-
3Gain-
GDF15-
-
-
-
3Gain-
GDF2-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
6Amp-
GDI2-
-
-
-
3Gain-
GDNF-
-
-
-
5Amp-
GDPD1-
-
-
-
3Gain-
GDPD3-
-
-
-
1Loss-
GDPD4-
-
-
-
3Gain-
GDPD5-
-
-
-
3Gain-
GEM-
-
-
-
6Amp-
GEMIN2-
-
-
-
10Amp-
GEMIN4-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GET4-
-
-
-
1Loss-
GFAP-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFRA2-
-
-
-
3Gain-
GFRA4-
-
-
-
3Gain-
GFY-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCT-
-
-
-
1Loss-
GGCX-
-
-
-
1Loss-
GGH-
-
-
-
5Amp-
GGN-
-
-
-
1Loss-
GGNBP2-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHDC-
-
-
-
3Gain-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
5Amp-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
1Loss-
GHRL-
-
-
-
3Gain-
GHSR-
-
-
-
0Del-
GID4-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GIF-
-
-
-
3Gain-
GIGYF1-
-
-
-
1Loss-
GIMAP1-
-
-
-
1Loss-
GIMAP1-GIMAP5-
-
-
-
1Loss-
GIMAP2-
-
-
-
1Loss-
GIMAP4-
-
-
-
1Loss-
GIMAP5-
-
-
-
1Loss-
GIMAP6p.D259Y
Missense
SNP
1.000
1Loss-
GIMAP7-
-
-
-
1Loss-
GIMAP8-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
3Gain-
GINS4-
-
-
-
1Loss-
GIP-
-
-
-
3Gain-
GIPC1-
-
-
-
3Gain-
GIPC2-
-
-
-
3Gain-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GIT1-
-
-
-
3Gain-
GIT2-
-
-
-
3Gain-
GJA1p.R153P
Missense
SNP
0.996
2--
GJA3-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC1-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
1Loss-
GJD2-
-
-
-
1Loss-
GJD3-
-
-
-
3Gain-
GJD4-
-
-
-
3Gain-
GKAP1-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLB1L2-
-
-
-
3Gain-
GLB1L3-
-
-
-
3Gain-
GLCCI1-
-
-
-
1Loss-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
3Gain-
GLE1-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLI1-
-
-
-
3Gain-
GLI2-
-
-
-
1Loss-
GLI3-
-
-
-
1Loss-
GLI4-
-
-
-
1Loss-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIPR2-
-
-
-
3Gain-
GLIS1-
-
-
-
3Gain-
GLIS2-
-
-
-
1Loss-
GLIS3-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP1Rp.S49Y
Missense
SNP
1.000
2--
GLP2R-
-
-
-
1Loss-
GLRA2p.R153Q
Missense
SNP
1.000
NDND-
GLRX2-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLS-
-
-
-
1Loss-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLTPD2-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GLYAT-
-
-
-
3Gain-
GLYATL1-
-
-
-
3Gain-
GLYATL1B-
-
-
-
3Gain-
GLYATL2-
-
-
-
3Gain-
GLYR1-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
3Gain-
GML-
-
-
-
1Loss-
GMNC-
-
-
-
0Del-
GMPPA-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
1Loss-
GNA13-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
1Loss-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNAO1-
-
-
-
3Gain-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
3Gain-
GNAT2-
-
-
-
1Loss-
GNAT3-
-
-
-
1Loss-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB2-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
0Del-
GNB5-
-
-
-
3Gain-
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
1Loss-
GNG12-
-
-
-
3Gain-
GNG2-
-
-
-
1Loss-
GNG3-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNGT1-
-
-
-
1Loss-
GNGT2-
-
-
-
3Gain-
GNL2-
-
-
-
3Gain-
GNLY-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GNPNAT1-
-
-
-
1Loss-
GNPTAB-
-
-
-
3Gain-
GNRH1-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
5Amp-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
3Gain-
GOLGA7-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8M-
-
-
-
3Gain-
GOLGA8N-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLGA8T-
-
-
-
1Loss-
GOLIM4-
-
-
-
0Del-
GOLM1-
-
-
-
3Gain-
GOLPH3-
-
-
-
5Amp-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
1Loss-
GOLT1B-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOSR1-
-
-
-
3Gain-
GOSR2-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP2p.S441N
Missense
SNP
0.994
1Loss-
GP5-
-
-
-
0Del-
GP6-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
1Loss-
GPALPP1-
-
-
-
3Gain-
GPAM-
-
-
-
1Loss-
GPAT2-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH2-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPATCH3-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPATCH8-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPBP1L1-
-
-
-
3Gain-
GPC2-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPCPD1-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPD2-
-
-
-
1Loss-
GPER1-
-
-
-
1Loss-
GPHA2-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPIHBP1-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPN3-
-
-
-
3Gain-
GPNMB-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR107-
-
-
-
3Gain-
GPR108-
-
-
-
3Gain-
GPR12-
-
-
-
3Gain-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR137C-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR141-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR146-
-
-
-
1Loss-
GPR148-
-
-
-
1Loss-
GPR152-
-
-
-
3Gain-
GPR153-
-
-
-
3Gain-
GPR158p.L464H
Missense
SNP
0.533
3Gain-
GPR160-
-
-
-
0Del-
GPR161-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR17-
-
-
-
1Loss-
GPR176-
-
-
-
1Loss-
GPR179-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
3Gain-
GPR183-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR20-
-
-
-
1Loss-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
1Loss-
GPR25-
-
-
-
1Loss-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR32p.A98D
Missense
SNP
1.000
1Loss-
GPR33-
-
-
-
11Amp-
GPR37-
-
-
-
1Loss-
GPR37L1-
-
-
-
1Loss-
GPR39-
-
-
-
1Loss-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
1Loss-
GPR45-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR83-
-
-
-
3Gain-
GPR84-
-
-
-
3Gain-
GPR85-
-
-
-
1Loss-
GPR88p.W302C
Missense
SNP
0.689
2--
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5B-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRC5D-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPS1-
-
-
-
3Gain-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX7-
-
-
-
3Gain-
GRAMD1A-
-
-
-
1Loss-
GRAMD1Bp.N443Y
Missense
SNP
0.378
3Gain-
GRAMD2A-
-
-
-
5Amp-
GRAP-
-
-
-
3Gain-
GRAP2p.A322P
Missense
SNP
1.000
2--
GRAPL-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRB10-
-
-
-
1Loss-
GRB2-
-
-
-
3Gain-
GRB7-
-
-
-
3Gain-
GREB1Lp.T923N
Missense
SNP
0.491
3Gain-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
4Gain-
GRHL3-
-
-
-
1Loss-
GRHPR-
-
-
-
3Gain-
GRIA4-
-
-
-
3Gain-
GRID1-
-
-
-
1Loss-
GRID2IP-
-
-
-
1Loss-
GRIFIN-
-
-
-
1Loss-
GRIK1-
-
-
-
3Gain-
GRIK3-
-
-
-
3Gain-
GRIK4p.T136N
p.K230N
Missense
Missense
SNP
SNP
0.473
0.538
3Gain-
GRIK5-
-
-
-
1Loss-
GRIN2A-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRIN2Dp.N764del
In_Frame_Del
DEL
1.000
1Loss-
GRIN3A-
-
-
-
3Gain-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
1Loss-
GRIP1-
-
-
-
3Gain-
GRIP2-
-
-
-
3Gain-
GRK1-
-
-
-
1Loss-
GRK2-
-
-
-
3Gain-
GRK3-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRM3-
-
-
-
1Loss-
GRM5p.Q159K
Missense
SNP
0.475
3Gain-
GRM7-
-
-
-
3Gain-
GRM8p.P12T
Missense
SNP
0.990
1Loss-
GRN-
-
-
-
3Gain-
GRP-
-
-
-
6Amp-
GRTP1-
-
-
-
1Loss-
GRWD1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GSAP-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSC2-
-
-
-
3Gain-
GSDMA-
-
-
-
3Gain-
GSDMB-
-
-
-
3Gain-
GSDMC-
-
-
-
4Gain-
GSDMD-
-
-
-
1Loss-
GSDME-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSG1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSN-
-
-
-
3Gain-
GSPT1-
-
-
-
1Loss-
GSR-
-
-
-
3Gain-
GSS-
-
-
-
3Gain-
GSTK1-
-
-
-
1Loss-
GSTM1-
-
-
-
1Loss-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
3Gain-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GSTZ1-
-
-
-
1Loss-
GSX1-
-
-
-
3Gain-
GTDC1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2A2-
-
-
-
3Gain-
GTF2B-
-
-
-
3Gain-
GTF2E2-
-
-
-
3Gain-
GTF2F1-
-
-
-
3Gain-
GTF2F2-
-
-
-
3Gain-
GTF2H1-
-
-
-
1Loss-
GTF2H3-
-
-
-
3Gain-
GTF2I-
-
-
-
1Loss-
GTF2IRD1-
-
-
-
1Loss-
GTF2IRD2-
-
-
-
1Loss-
GTF2IRD2B-
-
-
-
1Loss-
GTF3A-
-
-
-
3Gain-
GTF3C1-
-
-
-
1Loss-
GTF3C3-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP10-
-
-
-
1Loss-
GTPBP3-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GTSF1L-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GUCY1A2-
-
-
-
3Gain-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GULP1-
-
-
-
1Loss-
GUSB-
-
-
-
1Loss-
GVQW3-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYPAp.T31N
Missense
SNP
0.606
2--
GYPBp.T31N
Missense
SNP
0.184
2--
GYPC-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GYS2-
-
-
-
3Gain-
GZF1-
-
-
-
3Gain-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
1Loss-
H2AFV-
-
-
-
1Loss-
H2AFX-
-
-
-
3Gain-
H2AFY2-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H3F3B-
-
-
-
3Gain-
HABP2-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
3Gain-
HACE1p.R564K
Missense
SNP
1.000
2--
HACL1-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HAMP-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAP1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAPLN4-
-
-
-
3Gain-
HARBI1-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAS2-
-
-
-
4Gain-
HAS3-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
6Amp-
HAUS2-
-
-
-
1Loss-
HAUS4-
-
-
-
3Gain-
HAUS5-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HAUS8-
-
-
-
3Gain-
HAX1-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
1Loss-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCK-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HCRT-
-
-
-
3Gain-
HCRTR1-
-
-
-
1Loss-
HCST-
-
-
-
1Loss-
HDAC11-
-
-
-
3Gain-
HDAC5-
-
-
-
3Gain-
HDAC7-
-
-
-
3Gain-
HDAC9p.R950G
Missense
SNP
0.978
1Loss-
HDC-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
6Amp-
HDHD3-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
11Amp-
HEATR6-
-
-
-
3Gain-
HEATR9-
-
-
-
3Gain-
HEBP1-
-
-
-
1Loss-
HECTD1-
-
-
-
11Amp-
HECTD2-
-
-
-
1Loss-
HECTD3-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
1Loss-
HECW2-
-
-
-
1Loss-
HELB-
-
-
-
3Gain-
HELLS-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HELZ2-
-
-
-
3Gain-
HEMGN-
-
-
-
3Gain-
HENMT1-
-
-
-
1Loss-
HEPACAM-
-
-
-
3Gain-
HEPACAM2-
-
-
-
1Loss-
HEPHL1-
-
-
-
3Gain-
HEPN1-
-
-
-
3Gain-
HERC1-
-
-
-
3Gain-
HERC2p.E3127Q
Missense
SNP
0.525
3Gain-
HERC4-
-
-
-
1Loss-
HERPUD1-
-
-
-
3Gain-
HERPUD2-
-
-
-
1Loss-
HES1-
-
-
-
0Del-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HEXA-
-
-
-
5Amp-
HEXDC-
-
-
-
3Gain-
HEXIM1-
-
-
-
3Gain-
HEXIM2-
-
-
-
3Gain-
HEY1-
-
-
-
6Amp-
HEYL-
-
-
-
3Gain-
HGFp.G169V
Missense
SNP
0.993
1Loss-
HGH1-
-
-
-
1Loss-
HGS-
-
-
-
3Gain-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HHLA3-
-
-
-
3Gain-
HIBADH-
-
-
-
1Loss-
HIBCH-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
3Gain-
HID1-
-
-
-
3Gain-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIGD1B-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIGD2B-
-
-
-
5Amp-
HIKESHI-
-
-
-
3Gain-
HILPDA-
-
-
-
1Loss-
HINFP-
-
-
-
3Gain-
HINT2-
-
-
-
3Gain-
HIP1-
-
-
-
1Loss-
HIP1R-
-
-
-
3Gain-
HIPK1-
-
-
-
1Loss-
HIPK2-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIPK4-
-
-
-
1Loss-
HIRA-
-
-
-
3Gain-
HIRIP3-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIST4H4-
-
-
-
1Loss-
HIVEP3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HK2-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLCS-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HLX-
-
-
-
1Loss-
HM13-
-
-
-
1Loss-
HMBOX1-
-
-
-
3Gain-
HMBS-
-
-
-
3Gain-
HMCN1p.T5042A
Missense
SNP
0.318
3Gain-
HMCN2p.L3266Wfs*20
p.R500M
Frame_Shift_Del
Missense
DEL
SNP
0.523
0.500
3Gain-
HMG20A-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGA2-
-
-
-
3Gain-
HMGB1-
-
-
-
3Gain-
HMGCL-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGCS2-
-
-
-
1Loss-
HMGN1-
-
-
-
3Gain-
HMGN2-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
6Amp-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1A-
-
-
-
3Gain-
HNF1B-
-
-
-
3Gain-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
5Amp-
HNMT-
-
-
-
1Loss-
HNRNPA1-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
1Loss-
HNRNPC-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPL-
-
-
-
1Loss-
HNRNPM-
-
-
-
5Amp-
HNRNPR-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HNRNPUL1-
-
-
-
1Loss-
HNRNPUL2-
-
-
-
3Gain-
HNRNPUL2-BSCL2-
-
-
-
3Gain-
HOGA1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOMER3-
-
-
-
3Gain-
HOMEZ-
-
-
-
3Gain-
HOOK1-
-
-
-
3Gain-
HOOK3-
-
-
-
1Loss-
HOPX-
-
-
-
0Del-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
1Loss-
HOXA1-
-
-
-
1Loss-
HOXA10-
-
-
-
1Loss-
HOXA11-
-
-
-
1Loss-
HOXA13-
-
-
-
1Loss-
HOXA2p.E224D
Missense
SNP
0.993
1Loss-
HOXA3-
-
-
-
1Loss-
HOXA4-
-
-
-
1Loss-
HOXA5-
-
-
-
1Loss-
HOXA6-
-
-
-
1Loss-
HOXA7-
-
-
-
1Loss-
HOXA9-
-
-
-
1Loss-
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
3Gain-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HOXC10p.A178S
Missense
SNP
0.484
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
1Loss-
HPCAL4-
-
-
-
3Gain-
HPD-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPN-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
3Gain-
HRAS-
-
-
-
1Loss-
HRASLS-
-
-
-
0Del-
HRASLS2-
-
-
-
3Gain-
HRASLS5-
-
-
-
3Gain-
HRC-
-
-
-
1Loss-
HRCT1-
-
-
-
3Gain-
HRG-
-
-
-
0Del-
HRH1-
-
-
-
3Gain-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
6Amp-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
3Gain-
HS3ST2-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
3Gain-
HS3ST3B1-
-
-
-
3Gain-
HS3ST4-
-
-
-
1Loss-
HS6ST1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
6Amp-
HSCB-
-
-
-
1Loss-
HSD11B1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B1-
-
-
-
3Gain-
HSD17B11p.L216M
Missense
SNP
0.651
2--
HSD17B12-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B3p.X152_splice
Splice_Site
SNP
0.522
3Gain-
HSD17B6-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSD3B7-
-
-
-
1Loss-
HSDL1-
-
-
-
3Gain-
HSDL2-
-
-
-
3Gain-
HSF2BP-
-
-
-
3Gain-
HSF4-
-
-
-
1Loss-
HSF5-
-
-
-
3Gain-
HSH2D-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSP90B1-
-
-
-
3Gain-
HSPA12A-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA13-
-
-
-
3Gain-
HSPA14-
-
-
-
3Gain-
HSPA2-
-
-
-
1Loss-
HSPA5-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
3Gain-
HSPB1-
-
-
-
1Loss-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
3Gain-
HSPB2-C11orf52-
-
-
-
3Gain-
HSPB6-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPB8-
-
-
-
3Gain-
HSPB9-
-
-
-
3Gain-
HSPBP1-
-
-
-
1Loss-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HSPH1-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR1Ep.G294E
Missense
SNP
1.000
2--
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
3Gain-
HTR2B-
-
-
-
1Loss-
HTR3A-
-
-
-
3Gain-
HTR3B-
-
-
-
3Gain-
HTR3C-
-
-
-
0Del-
HTR3D-
-
-
-
0Del-
HTR3E-
-
-
-
0Del-
HTR5A-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HTR7p.S359R
Missense
SNP
0.974
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA2-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HUNK-
-
-
-
3Gain-
HUS1-
-
-
-
1Loss-
HUWE1p.R1268L
Missense
SNP
1.000
NDND-
HVCN1-
-
-
-
3Gain-
HYAL4-
-
-
-
1Loss-
HYDIN-
-
-
-
1Loss-
HYI-
-
-
-
3Gain-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
3Gain-
HYOU1-
-
-
-
3Gain-
HYPK-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IARS-
-
-
-
3Gain-
IARS2-
-
-
-
1Loss-
IBA57-
-
-
-
3Gain-
ICA1-
-
-
-
1Loss-
ICA1L-
-
-
-
1Loss-
ICAM1-
-
-
-
5Amp-
ICAM2-
-
-
-
3Gain-
ICAM3-
-
-
-
5Amp-
ICAM4-
-
-
-
5Amp-
ICAM5-
-
-
-
5Amp-
ICE1-
-
-
-
5Amp-
ICE2-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ICOS-
-
-
-
1Loss-
ICOSLG-
-
-
-
3Gain-
ID1-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER2-
-
-
-
3Gain-
IER3IP1-
-
-
-
6Amp-
IER5-
-
-
-
3Gain-
IER5L-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI30-
-
-
-
3Gain-
IFI35-
-
-
-
3Gain-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFI6-
-
-
-
1Loss-
IFIH1-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNAR1-
-
-
-
3Gain-
IFNAR2-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNGR2-
-
-
-
3Gain-
IFNK-
-
-
-
3Gain-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
3Gain-
IFRD1-
-
-
-
1Loss-
IFT20-
-
-
-
3Gain-
IFT22-
-
-
-
1Loss-
IFT27-
-
-
-
1Loss-
IFT43-
-
-
-
1Loss-
IFT46-
-
-
-
3Gain-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT81-
-
-
-
3Gain-
IFT88-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF1R-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP1-
-
-
-
3Gain-
IGF2BP2-
-
-
-
0Del-
IGF2BP3-
-
-
-
1Loss-
IGFBP1-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
1Loss-
IGFBP4-
-
-
-
3Gain-
IGFBP5-
-
-
-
1Loss-
IGFBP6-
-
-
-
3Gain-
IGFBP7-
-
-
-
0Del-
IGFBPL1-
-
-
-
3Gain-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGFN1-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHMBP2-
-
-
-
3Gain-
IGHV3-72-
-
-
-
1Loss-
IGHV3OR16-9-
-
-
-
1Loss-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLL1-
-
-
-
3Gain-
IGLON5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
3Gain-
IGLV3-1p.S61Y
Missense
SNP
0.995
NDND-
IGSF10p.P853H
Missense
SNP
0.320
2--
IGSF21-
-
-
-
1Loss-
IGSF22-
-
-
-
1Loss-
IGSF23-
-
-
-
1Loss-
IGSF3-
-
-
-
1Loss-
IGSF5-
-
-
-
3Gain-
IGSF6-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
3Gain-
IHH-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
1Loss-
IKZF1-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IKZF3p.Y425F
Missense
SNP
0.450
3Gain-
IKZF4-
-
-
-
3Gain-
IKZF5-
-
-
-
1Loss-
IL10-
-
-
-
1Loss-
IL10RA-
-
-
-
3Gain-
IL10RB-
-
-
-
3Gain-
IL11-
-
-
-
1Loss-
IL11RA-
-
-
-
3Gain-
IL12RB1-
-
-
-
3Gain-
IL12RB2-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL16-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17RC-
-
-
-
3Gain-
IL17RE-
-
-
-
3Gain-
IL18-
-
-
-
3Gain-
IL18BP-
-
-
-
3Gain-
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL19-
-
-
-
1Loss-
IL1A-
-
-
-
1Loss-
IL1B-
-
-
-
1Loss-
IL1F10-
-
-
-
1Loss-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RAP-
-
-
-
0Del-
IL1RAPL1p.P672T
Missense
SNP
1.000
NDND-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL1RN-
-
-
-
1Loss-
IL20-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL22-
-
-
-
3Gain-
IL22RA1-
-
-
-
1Loss-
IL23A-
-
-
-
3Gain-
IL23R-
-
-
-
3Gain-
IL24-
-
-
-
1Loss-
IL25-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL27-
-
-
-
1Loss-
IL27RA-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL2RB-
-
-
-
1Loss-
IL31-
-
-
-
3Gain-
IL33-
-
-
-
3Gain-
IL34-
-
-
-
1Loss-
IL36A-
-
-
-
1Loss-
IL36B-
-
-
-
1Loss-
IL36G-
-
-
-
1Loss-
IL36RN-
-
-
-
1Loss-
IL37-
-
-
-
1Loss-
IL4I1-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL5RA-
-
-
-
3Gain-
IL6-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL7-
-
-
-
6Amp-
IL7R-
-
-
-
5Amp-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
5Amp-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
3Gain-
IMMP1L-
-
-
-
1Loss-
IMMP2L-
-
-
-
1Loss-
IMMT-
-
-
-
1Loss-
IMP3-
-
-
-
1Loss-
IMP4-
-
-
-
1Loss-
IMPA1-
-
-
-
6Amp-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
6Amp-
IMPAD1-
-
-
-
5Amp-
IMPDH1-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
INAVA-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
3Gain-
INF2-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
ING3-
-
-
-
1Loss-
ING4-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
1Loss-
INHBB-
-
-
-
1Loss-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INIP-
-
-
-
3Gain-
INKA2-
-
-
-
1Loss-
INMT-
-
-
-
1Loss-
INMT-MINDY4-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INO80B-
-
-
-
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INO80C-
-
-
-
6Amp-
INO80D-
-
-
-
1Loss-
INO80E-
-
-
-
1Loss-
INPP1-
-
-
-
1Loss-
INPP4A-
-
-
-
3Gain-
INPP4Bp.D674Y
Missense
SNP
0.267
2--
INPP5A-
-
-
-
1Loss-
INPP5B-
-
-
-
3Gain-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INPPL1-
-
-
-
3Gain-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG1-
-
-
-
1Loss-
INSIG2-
-
-
-
1Loss-
INSL3-
-
-
-
3Gain-
INSL4-
-
-
-
3Gain-
INSL5-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSM1-
-
-
-
3Gain-
INSM2-
-
-
-
6Amp-
INSR-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
3Gain-
INSYN2-
-
-
-
1Loss-
INTS1-
-
-
-
1Loss-
INTS10-
-
-
-
3Gain-
INTS11-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
3Gain-
INTS5-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS7-
-
-
-
1Loss-
INTS8-
-
-
-
6Amp-
INTS9-
-
-
-
3Gain-
INTUp.Q554H
Missense
SNP
0.328
2--
INVS-
-
-
-
3Gain-
IPMK-
-
-
-
1Loss-
IPO13-
-
-
-
3Gain-
IPO4-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPO8p.V862F
Missense
SNP
0.487
3Gain-
IPO9-
-
-
-
1Loss-
IPP-
-
-
-
3Gain-
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
1Loss-
IQCC-
-
-
-
1Loss-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
1Loss-
IQCG-
-
-
-
0Del-
IQCH-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IQCN-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
3Gain-
IQSEC2p.S1312*
Frame_Shift_Del
DEL
0.984
NDND-
IQSEC3-
-
-
-
1Loss-
IQUB-
-
-
-
1Loss-
IRAK2-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IREB2-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF5-
-
-
-
1Loss-
IRF6-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRX1-
-
-
-
5Amp-
IRX2-
-
-
-
5Amp-
IRX3-
-
-
-
3Gain-
IRX4-
-
-
-
5Amp-
IRX5-
-
-
-
3Gain-
IRX6-
-
-
-
3Gain-
ISCA1-
-
-
-
3Gain-
ISCA2-
-
-
-
1Loss-
ISCU-
-
-
-
3Gain-
ISG15-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISOC2-
-
-
-
1Loss-
ISPD-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ISYNA1-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITFG2-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
3Gain-
ITGA2B-
-
-
-
3Gain-
ITGA3-
-
-
-
3Gain-
ITGA4-
-
-
-
1Loss-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA8p.A24S
Missense
SNP
0.468
3Gain-
ITGA9-
-
-
-
1Loss-
ITGAD-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAMp.F823del
In_Frame_Del
DEL
0.940
1Loss-
ITGAV-
-
-
-
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB1-
-
-
-
3Gain-
ITGB2-
-
-
-
3Gain-
ITGB3-
-
-
-
3Gain-
ITGB3BP-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB6-
-
-
-
1Loss-
ITGB7-
-
-
-
3Gain-
ITGB8-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITM2C-
-
-
-
1Loss-
ITPA-
-
-
-
3Gain-
ITPK1-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPKC-
-
-
-
1Loss-
ITPR1-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
ITPRID1-
-
-
-
1Loss-
ITPRID2-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
1Loss-
ITSN1-
-
-
-
3Gain-
IVD-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IWS1-
-
-
-
1Loss-
IZUMO1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
3Gain-
IZUMO2-
-
-
-
1Loss-
IZUMO3-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
3Gain-
JAK1-
-
-
-
3Gain-
JAK2-
-
-
-
3Gain-
JAK3-
-
-
-
3Gain-
JAKMIP3-
-
-
-
1Loss-
JAM2-
-
-
-
3Gain-
JAM3-
-
-
-
3Gain-
JAML-
-
-
-
3Gain-
JAZF1-
-
-
-
1Loss-
JCAD-
-
-
-
3Gain-
JDP2-
-
-
-
1Loss-
JHY-
-
-
-
3Gain-
JKAMP-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD6-
-
-
-
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JOSD2-
-
-
-
1Loss-
JPH1-
-
-
-
5Amp-
JPH2-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
3Gain-
JPT1-
-
-
-
3Gain-
JRK-
-
-
-
1Loss-
JRKL-
-
-
-
3Gain-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
JUND-
-
-
-
3Gain-
JUP-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANK2-
-
-
-
3Gain-
KANK3-
-
-
-
5Amp-
KANK4-
-
-
-
3Gain-
KANSL1-
-
-
-
3Gain-
KANSL1L-
-
-
-
1Loss-
KANSL2-
-
-
-
3Gain-
KANSL3-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT2A-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT5-
-
-
-
3Gain-
KAT6A-
-
-
-
1Loss-
KAT6B-
-
-
-
1Loss-
KAT7-
-
-
-
3Gain-
KAT8-
-
-
-
1Loss-
KATNAL1-
-
-
-
3Gain-
KATNAL2-
-
-
-
6Amp-
KATNB1-
-
-
-
3Gain-
KATNBL1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
1Loss-
KBTBD3-
-
-
-
3Gain-
KBTBD4-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCMF1-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNA5p.P66T
Missense
SNP
1.000
1Loss-
KCNA6-
-
-
-
1Loss-
KCNA7-
-
-
-
1Loss-
KCNAB2-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
5Amp-
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
3Gain-
KCNC3-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND2-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNE1-
-
-
-
3Gain-
KCNE1B-
-
-
-
3Gain-
KCNE2-
-
-
-
3Gain-
KCNE3-
-
-
-
3Gain-
KCNE4-
-
-
-
1Loss-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
6Amp-
KCNG4-
-
-
-
1Loss-
KCNH1-
-
-
-
1Loss-
KCNH2-
-
-
-
1Loss-
KCNH3-
-
-
-
3Gain-
KCNH4-
-
-
-
3Gain-
KCNH5-
-
-
-
1Loss-
KCNH6-
-
-
-
3Gain-
KCNH7-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP3-
-
-
-
1Loss-
KCNJ1-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ12p.Q231Afs*42
Frame_Shift_Del
DEL
0.424
3Gain-
KCNJ14-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ3-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ5-
-
-
-
3Gain-
KCNJ6-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNK2p.M2T
Missense
SNP
0.987
1Loss-
KCNK4-
-
-
-
3Gain-
KCNK6-
-
-
-
1Loss-
KCNK7-
-
-
-
3Gain-
KCNK9-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB2-
-
-
-
0Del-
KCNMB3-
-
-
-
0Del-
KCNMB4-
-
-
-
3Gain-
KCNN1-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ3p.M632I
Missense
SNP
0.594
3Gain-
KCNQ4-
-
-
-
3Gain-
KCNQ5p.W393C;p.K394Q
Missense
MNP
0.987
2--
KCNRG-
-
-
-
1Loss-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
6Amp-
KCNT1p.X112_splice
Splice_Site
SNP
0.387
2--
KCNT2-
-
-
-
1Loss-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
4Gain-
KCNV2-
-
-
-
3Gain-
KCP-
-
-
-
1Loss-
KCTD1-
-
-
-
6Amp-
KCTD10-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD13-
-
-
-
1Loss-
KCTD14-
-
-
-
3Gain-
KCTD15-
-
-
-
1Loss-
KCTD16p.G32E
Missense
SNP
0.989
2--
KCTD17-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD21-
-
-
-
3Gain-
KCTD3-
-
-
-
1Loss-
KCTD4-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KCTD7-
-
-
-
1Loss-
KCTD9-
-
-
-
3Gain-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
3Gain-
KDELR1-
-
-
-
1Loss-
KDELR2-
-
-
-
1Loss-
KDELR3-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM2A-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM3A-
-
-
-
1Loss-
KDM4A-
-
-
-
3Gain-
KDM4B-
-
-
-
3Gain-
KDM4C-
-
-
-
3Gain-
KDM4D-
-
-
-
3Gain-
KDM4E-
-
-
-
3Gain-
KDM4F-
-
-
-
3Gain-
KDM5A-
-
-
-
1Loss-
KDM5B-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
1Loss-
KDM8-
-
-
-
1Loss-
KDR-
-
-
-
0Del-
KDSR-
-
-
-
6Amp-
KEAP1-
-
-
-
5Amp-
KEL-
-
-
-
1Loss-
KERA-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KHDRBS1-
-
-
-
1Loss-
KHDRBS3-
-
-
-
7Amp-
KHNYN-
-
-
-
1Loss-
KHSRP-
-
-
-
3Gain-
KIAA0100-
-
-
-
3Gain-
KIAA0232p.V313F
Missense
SNP
0.643
2--
KIAA0355-
-
-
-
1Loss-
KIAA0391-
-
-
-
6Amp-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0895-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1147-
-
-
-
1Loss-
KIAA1211-
-
-
-
0Del-
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
3Gain-
KIAA1324-
-
-
-
1Loss-
KIAA1324L-
-
-
-
1Loss-
KIAA1328-
-
-
-
6Amp-
KIAA1549-
-
-
-
1Loss-
KIAA1549L-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIAA1958-
-
-
-
3Gain-
KIAA2012-
-
-
-
1Loss-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF11-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF13B-
-
-
-
3Gain-
KIF14-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF18B-
-
-
-
3Gain-
KIF19-
-
-
-
3Gain-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
3Gain-
KIF21B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF23-
-
-
-
3Gain-
KIF24-
-
-
-
3Gain-
KIF26A-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF27-
-
-
-
3Gain-
KIF2B-
-
-
-
3Gain-
KIF2C-
-
-
-
3Gain-
KIF3B-
-
-
-
1Loss-
KIF5A-
-
-
-
3Gain-
KIF5B-
-
-
-
3Gain-
KIF5C-
-
-
-
1Loss-
KIFAP3p.Q622*
Nonsense
SNP
0.978
3Gain-
KIFC2p.H576Q
Missense
SNP
1.000
2--
KIFC3-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KIR2DL1p.P117T
Missense
SNP
0.431
1Loss-
KIR2DL3-
-
-
-
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KIRREL2-
-
-
-
1Loss-
KIRREL3-
-
-
-
3Gain-
KISS1-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KITLG-
-
-
-
3Gain-
KIZ-
-
-
-
3Gain-
KL-
-
-
-
3Gain-
KLB-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLC2-
-
-
-
3Gain-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
3Gain-
KLF10-
-
-
-
4Gain-
KLF12-
-
-
-
1Loss-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF17-
-
-
-
3Gain-
KLF2-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF4-
-
-
-
3Gain-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
3Gain-
KLF7-
-
-
-
1Loss-
KLF9-
-
-
-
3Gain-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC8A-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL12-
-
-
-
1Loss-
KLHL14-
-
-
-
6Amp-
KLHL17-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
0Del-
KLHL25-
-
-
-
1Loss-
KLHL26-
-
-
-
3Gain-
KLHL28-
-
-
-
8Amp-
KLHL33-
-
-
-
3Gain-
KLHL35-
-
-
-
3Gain-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
4Gain-
KLHL40-
-
-
-
1Loss-
KLHL42-
-
-
-
3Gain-
KLHL5-
-
-
-
1Loss-
KLHL6-
-
-
-
0Del-
KLHL7-
-
-
-
1Loss-
KLHL9-
-
-
-
3Gain-
KLK1-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK15-
-
-
-
1Loss-
KLK2-
-
-
-
1Loss-
KLK3-
-
-
-
1Loss-
KLK4-
-
-
-
1Loss-
KLK5-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRG2-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KMT2A-
-
-
-
3Gain-
KMT2B-
-
-
-
1Loss-
KMT2C-
-
-
-
1Loss-
KMT2D-
-
-
-
3Gain-
KMT2E-
-
-
-
1Loss-
KMT5A-
-
-
-
3Gain-
KMT5B-
-
-
-
3Gain-
KMT5C-
-
-
-
1Loss-
KNCN-
-
-
-
3Gain-
KNDC1p.D161V
Missense
SNP
1.000
1Loss-
KNG1-
-
-
-
0Del-
KNL1-
-
-
-
1Loss-
KNOP1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KNTC1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA6-
-
-
-
1Loss-
KPNA7-
-
-
-
1Loss-
KPNB1-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRAS-
-
-
-
3Gain-
KRBA1-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRI1-
-
-
-
5Amp-
KRIT1-
-
-
-
1Loss-
KRR1-
-
-
-
3Gain-
KRT1p.G547D
Missense
SNP
0.562
3Gain-
KRT10-
-
-
-
3Gain-
KRT12-
-
-
-
3Gain-
KRT13-
-
-
-
3Gain-
KRT14-
-
-
-
3Gain-
KRT15-
-
-
-
3Gain-
KRT16-
-
-
-
3Gain-
KRT17-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT19-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT20-
-
-
-
3Gain-
KRT222-
-
-
-
3Gain-
KRT23-
-
-
-
3Gain-
KRT24-
-
-
-
3Gain-
KRT25-
-
-
-
3Gain-
KRT26-
-
-
-
3Gain-
KRT27-
-
-
-
3Gain-
KRT28-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT31-
-
-
-
3Gain-
KRT32-
-
-
-
3Gain-
KRT33A-
-
-
-
3Gain-
KRT33B-
-
-
-
3Gain-
KRT34-
-
-
-
3Gain-
KRT35-
-
-
-
3Gain-
KRT36-
-
-
-
3Gain-
KRT37-
-
-
-
3Gain-
KRT38-
-
-
-
3Gain-
KRT39-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT40-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRT9-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5p.Q128L
Missense
SNP
0.503
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP11-1-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP13-1-
-
-
-
3Gain-
KRTAP13-2-
-
-
-
3Gain-
KRTAP13-3-
-
-
-
3Gain-
KRTAP13-4-
-
-
-
3Gain-
KRTAP15-1-
-
-
-
3Gain-
KRTAP16-1p.V92L
Missense
SNP
0.461
3Gain-
KRTAP17-1-
-
-
-
3Gain-
KRTAP19-1-
-
-
-
3Gain-
KRTAP19-2-
-
-
-
3Gain-
KRTAP19-3-
-
-
-
3Gain-
KRTAP19-4-
-
-
-
3Gain-
KRTAP19-5-
-
-
-
3Gain-
KRTAP19-6-
-
-
-
3Gain-
KRTAP19-7-
-
-
-
3Gain-
KRTAP19-8-
-
-
-
3Gain-
KRTAP20-1-
-
-
-
3Gain-
KRTAP20-2-
-
-
-
3Gain-
KRTAP20-3-
-
-
-
3Gain-
KRTAP20-4-
-
-
-
3Gain-
KRTAP21-1-
-
-
-
3Gain-
KRTAP21-2-
-
-
-
3Gain-
KRTAP22-1-
-
-
-
3Gain-
KRTAP22-2-
-
-
-
3Gain-
KRTAP23-1-
-
-
-
3Gain-
KRTAP24-1-
-
-
-
3Gain-
KRTAP25-1-
-
-
-
3Gain-
KRTAP26-1-
-
-
-
3Gain-
KRTAP27-1-
-
-
-
3Gain-
KRTAP29-1-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
3Gain-
KRTAP4-11-
-
-
-
3Gain-
KRTAP4-12-
-
-
-
3Gain-
KRTAP4-16-
-
-
-
3Gain-
KRTAP4-2-
-
-
-
3Gain-
KRTAP4-3-
-
-
-
3Gain-
KRTAP4-4-
-
-
-
3Gain-
KRTAP4-5-
-
-
-
3Gain-
KRTAP4-6-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP4-9-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
3Gain-
KRTAP5-11-
-
-
-
3Gain-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
3Gain-
KRTAP5-8-
-
-
-
3Gain-
KRTAP5-9p.G16V
Missense
SNP
0.514
3Gain-
KRTAP6-1-
-
-
-
3Gain-
KRTAP6-2-
-
-
-
3Gain-
KRTAP6-3-
-
-
-
3Gain-
KRTAP7-1-
-
-
-
3Gain-
KRTAP8-1-
-
-
-
3Gain-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-4-
-
-
-
3Gain-
KRTAP9-6-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-8-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KRTCAP2-
-
-
-
3Gain-
KRTDAP-
-
-
-
1Loss-
KSR1-
-
-
-
3Gain-
KSR2-
-
-
-
3Gain-
KTI12-
-
-
-
3Gain-
KTN1-
-
-
-
1Loss-
KXD1-
-
-
-
3Gain-
KYAT1-
-
-
-
3Gain-
KYAT3-
-
-
-
3Gain-
KYNU-
-
-
-
1Loss-
L1TD1-
-
-
-
3Gain-
L2HGDH-
-
-
-
1Loss-
L34079.1-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
3Gain-
LACRT-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LACTB2-
-
-
-
5Amp-
LACTBL1-
-
-
-
1Loss-
LAD1-
-
-
-
1Loss-
LAG3-
-
-
-
1Loss-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LALBA-
-
-
-
3Gain-
LAMA1-
-
-
-
1Loss-
LAMA3p.G1956R
Missense
SNP
0.087
6Amp-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
1Loss-
LAMB3-
-
-
-
1Loss-
LAMB4-
-
-
-
1Loss-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMC3p.C807Afs*77
Frame_Shift_Del
DEL
0.614
2--
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
0Del-
LAMP5-
-
-
-
3Gain-
LAMTOR1-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAMTOR4-
-
-
-
1Loss-
LAMTOR5-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
1Loss-
LAPTM4B-
-
-
-
6Amp-
LAPTM5-
-
-
-
1Loss-
LARGE1-
-
-
-
1Loss-
LARGE2-
-
-
-
1Loss-
LARP4-
-
-
-
3Gain-
LARP4B-
-
-
-
3Gain-
LARP6-
-
-
-
3Gain-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
3Gain-
LAT-
-
-
-
1Loss-
LAT2-
-
-
-
1Loss-
LATS2-
-
-
-
3Gain-
LAX1-
-
-
-
1Loss-
LAYN-
-
-
-
3Gain-
LBHD1-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LBX2-
-
-
-
1Loss-
LCA5L-
-
-
-
3Gain-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1D-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT1-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCN2-
-
-
-
3Gain-
LCOR-
-
-
-
1Loss-
LCP1-
-
-
-
3Gain-
LCTp.G407W
Missense
SNP
1.000
1Loss-
LCTL-
-
-
-
3Gain-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
3Gain-
LDHB-
-
-
-
3Gain-
LDHC-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LDLRAD2-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LDLRAD4-
-
-
-
3Gain-
LDLRAP1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
1Loss-
LEMD3p.W197C
Missense
SNP
0.573
3Gain-
LENEP-
-
-
-
3Gain-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEO1-
-
-
-
3Gain-
LEP-
-
-
-
1Loss-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LEPROTL1-
-
-
-
3Gain-
LETM2-
-
-
-
1Loss-
LETMD1-
-
-
-
3Gain-
LEUTX-
-
-
-
1Loss-
LEXM-
-
-
-
3Gain-
LFNG-
-
-
-
1Loss-
LGALS1-
-
-
-
1Loss-
LGALS12-
-
-
-
3Gain-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS3BP-
-
-
-
3Gain-
LGALS4-
-
-
-
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9-
-
-
-
3Gain-
LGALS9B-
-
-
-
3Gain-
LGALS9C-
-
-
-
3Gain-
LGI1-
-
-
-
1Loss-
LGI3-
-
-
-
3Gain-
LGI4p.I461M
Missense
SNP
0.159
1Loss-
LGMN-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGR5-
-
-
-
3Gain-
LGR6-
-
-
-
1Loss-
LHB-
-
-
-
1Loss-
LHFPL3-
-
-
-
1Loss-
LHFPL4-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LHPP-
-
-
-
1Loss-
LHX1-
-
-
-
3Gain-
LHX2-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LHX6-
-
-
-
3Gain-
LHX8-
-
-
-
3Gain-
LHX9-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIFR-
-
-
-
5Amp-
LIG1-
-
-
-
1Loss-
LIG3-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LILRA1-
-
-
-
1Loss-
LILRA2-
-
-
-
1Loss-
LILRA4-
-
-
-
1Loss-
LILRA5-
-
-
-
1Loss-
LILRA6-
-
-
-
1Loss-
LILRB1-
-
-
-
1Loss-
LILRB2-
-
-
-
1Loss-
LILRB3-
-
-
-
1Loss-
LILRB4-
-
-
-
1Loss-
LILRB5-
-
-
-
1Loss-
LIM2-
-
-
-
1Loss-
LIMA1-
-
-
-
3Gain-
LIMCH1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMD2-
-
-
-
3Gain-
LIME1-
-
-
-
3Gain-
LIMK1-
-
-
-
1Loss-
LIMK2-
-
-
-
1Loss-
LIMS1-
-
-
-
1Loss-
LIMS2-
-
-
-
1Loss-
LIMS3-
-
-
-
1Loss-
LIMS3-LOC440895-
-
-
-
1Loss-
LIMS4-
-
-
-
1Loss-
LIN28A-
-
-
-
1Loss-
LIN37-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7A-
-
-
-
3Gain-
LIN7B-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
1Loss-
LINC02210-CRHR1-
-
-
-
3Gain-
LINGO1-
-
-
-
1Loss-
LINGO2-
-
-
-
3Gain-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
3Gain-
LIPE-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
6Amp-
LIPH-
-
-
-
0Del-
LIPIp.G258V
Missense
SNP
0.416
3Gain-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
3Gain-
LIPT2-
-
-
-
3Gain-
LITAF-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
3Gain-
LLCFC1-
-
-
-
1Loss-
LLGL1-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMAN1-
-
-
-
6Amp-
LMAN1L-
-
-
-
1Loss-
LMAN2L-
-
-
-
3Gain-
LMBR1-
-
-
-
1Loss-
LMBR1Lp.X257_splice
Splice_Site
SNP
0.557
3Gain-
LMBRD2-
-
-
-
5Amp-
LMCD1-
-
-
-
3Gain-
LMLN-
-
-
-
0Del-
LMLN2-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
1Loss-
LMNTD1-
-
-
-
3Gain-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO4-
-
-
-
3Gain-
LMO7p.Q433L
Missense
SNP
0.980
1Loss-
LMOD1-
-
-
-
1Loss-
LMOD2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMTK2-
-
-
-
1Loss-
LMTK3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LMX1Bp.P300T
Missense
SNP
0.469
3Gain-
LNX2-
-
-
-
3Gain-
LONP1-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LONRF1-
-
-
-
3Gain-
LONRF2-
-
-
-
3Gain-
LOR-
-
-
-
3Gain-
LOXHD1-
-
-
-
6Amp-
LOXL1-
-
-
-
3Gain-
LOXL2-
-
-
-
3Gain-
LOXL3-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR1-
-
-
-
3Gain-
LPAR2-
-
-
-
3Gain-
LPAR3-
-
-
-
3Gain-
LPAR5-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT1-
-
-
-
5Amp-
LPCAT2-
-
-
-
3Gain-
LPCAT3-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPGAT1-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
3Gain-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
0Del-
LPXN-
-
-
-
3Gain-
LRCH1-
-
-
-
3Gain-
LRCH3-
-
-
-
0Del-
LRCH4-
-
-
-
1Loss-
LRCOL1-
-
-
-
3Gain-
LRFN1-
-
-
-
1Loss-
LRFN3-
-
-
-
1Loss-
LRFN4-
-
-
-
3Gain-
LRFN5-
-
-
-
8Amp-
LRG1-
-
-
-
1Loss-
LRGUK-
-
-
-
1Loss-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIG3-
-
-
-
3Gain-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP10-
-
-
-
3Gain-
LRP12-
-
-
-
4Gain-
LRP1Bp.P2819N
p.L2010F
Missense
Missense
MNP
SNP
1.000
1.000
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP5-
-
-
-
3Gain-
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRP8-
-
-
-
3Gain-
LRR1-
-
-
-
1Loss-
LRRC10-
-
-
-
3Gain-
LRRC10B-
-
-
-
3Gain-
LRRC14B-
-
-
-
1Loss-
LRRC15-
-
-
-
0Del-
LRRC17-
-
-
-
1Loss-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
3Gain-
LRRC20-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC25-
-
-
-
3Gain-
LRRC27-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC3-
-
-
-
3Gain-
LRRC30-
-
-
-
1Loss-
LRRC31-
-
-
-
0Del-
LRRC32-
-
-
-
3Gain-
LRRC34-
-
-
-
0Del-
LRRC36-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC37B-
-
-
-
3Gain-
LRRC38-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
3Gain-
LRRC4-
-
-
-
1Loss-
LRRC40-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC45-
-
-
-
3Gain-
LRRC46-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC49-
-
-
-
3Gain-
LRRC4B-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC53-
-
-
-
3Gain-
LRRC55-
-
-
-
3Gain-
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC59p.T269R
Missense
SNP
0.435
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC61-
-
-
-
1Loss-
LRRC63-
-
-
-
3Gain-
LRRC69-
-
-
-
6Amp-
LRRC7-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
1Loss-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
3Gain-
LRRC75A-
-
-
-
3Gain-
LRRC75B-
-
-
-
1Loss-
LRRC8A-
-
-
-
3Gain-
LRRC8B-
-
-
-
3Gain-
LRRC8C-
-
-
-
3Gain-
LRRC8D-
-
-
-
3Gain-
LRRC8E-
-
-
-
3Gain-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
5Amp-
LRRD1-
-
-
-
1Loss-
LRRFIP1p.V420L
Missense
SNP
0.601
2--
LRRFIP2-
-
-
-
1Loss-
LRRIQ1-
-
-
-
3Gain-
LRRIQ3-
-
-
-
3Gain-
LRRIQ4-
-
-
-
0Del-
LRRK1-
-
-
-
1Loss-
LRRK2-
-
-
-
3Gain-
LRRN1-
-
-
-
3Gain-
LRRN2-
-
-
-
1Loss-
LRRN3-
-
-
-
1Loss-
LRRN4-
-
-
-
3Gain-
LRRN4CL-
-
-
-
3Gain-
LRRTM1-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRRTM4-
-
-
-
1Loss-
LRSAM1-
-
-
-
3Gain-
LRTM2-
-
-
-
1Loss-
LRTOMT-
-
-
-
3Gain-
LRWD1-
-
-
-
1Loss-
LSG1-
-
-
-
0Del-
LSM1-
-
-
-
1Loss-
LSM10-
-
-
-
3Gain-
LSM12-
-
-
-
3Gain-
LSM14A-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LSM3-
-
-
-
3Gain-
LSM4-
-
-
-
3Gain-
LSM5-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSR-
-
-
-
1Loss-
LSS-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP3-
-
-
-
3Gain-
LTBP4-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LTN1-
-
-
-
3Gain-
LTO1-
-
-
-
3Gain-
LUC7L2-
-
-
-
1Loss-
LUC7L3-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LURAP1L-
-
-
-
3Gain-
LUZP1-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LUZP6-
-
-
-
1Loss-
LY6D-
-
-
-
1Loss-
LY6E-
-
-
-
1Loss-
LY6H-
-
-
-
1Loss-
LY6K-
-
-
-
1Loss-
LY6L-
-
-
-
1Loss-
LY75-
-
-
-
1Loss-
LY75-CD302-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
5Amp-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYL1-
-
-
-
3Gain-
LYN-
-
-
-
5Amp-
LYNX1-
-
-
-
1Loss-
LYNX1-SLURP2-
-
-
-
1Loss-
LYPD1-
-
-
-
1Loss-
LYPD2-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LYPD8-
-
-
-
5Amp-
LYPLA1-
-
-
-
5Amp-
LYPLA2-
-
-
-
1Loss-
LYPLAL1-
-
-
-
1Loss-
LYRM1-
-
-
-
1Loss-
LYRM9-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD4-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LYZ-
-
-
-
3Gain-
LYZL1-
-
-
-
3Gain-
LYZL2-
-
-
-
3Gain-
LYZL4-
-
-
-
1Loss-
LYZL6-
-
-
-
3Gain-
LZTR1-
-
-
-
3Gain-
LZTS1-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
LZTS3-
-
-
-
3Gain-
M1AP-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MAB21L1-
-
-
-
3Gain-
MAB21L3-
-
-
-
1Loss-
MACC1-
-
-
-
1Loss-
MACF1-
-
-
-
3Gain-
MACO1-
-
-
-
1Loss-
MACROD1-
-
-
-
3Gain-
MACROD2-
-
-
-
3Gain-
MAD1L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAF1-
-
-
-
1Loss-
MAFA-
-
-
-
1Loss-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAFG-
-
-
-
3Gain-
MAFK-
-
-
-
1Loss-
MAG-
-
-
-
1Loss-
MAGEA4p.S156Y
Missense
SNP
1.000
NDND-
MAGEF1-
-
-
-
0Del-
MAGEL2p.P838T
p.S739*
Missense
Nonsense
SNP
SNP
1.000
1.000
1Loss-
MAGI1-
-
-
-
1Loss-
MAGI2-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAGOH-
-
-
-
3Gain-
MAGOHB-
-
-
-
1Loss-
MAIP1-
-
-
-
1Loss-
MAJIN-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MAL-
-
-
-
1Loss-
MAL2-
-
-
-
4Gain-
MALL-
-
-
-
1Loss-
MALRD1-
-
-
-
3Gain-
MALSU1-
-
-
-
1Loss-
MALT1-
-
-
-
6Amp-
MAMDC2-
-
-
-
3Gain-
MAML2-
-
-
-
3Gain-
MAMSTR-
-
-
-
1Loss-
MAN1A2-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANEAL-
-
-
-
3Gain-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP1S-
-
-
-
3Gain-
MAP2-
-
-
-
1Loss-
MAP2K1-
-
-
-
3Gain-
MAP2K2-
-
-
-
1Loss-
MAP2K3-
-
-
-
3Gain-
MAP2K4-
-
-
-
3Gain-
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP2K7-
-
-
-
3Gain-
MAP3K10-
-
-
-
1Loss-
MAP3K11-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K13-
-
-
-
0Del-
MAP3K14-
-
-
-
3Gain-
MAP3K19-
-
-
-
1Loss-
MAP3K2-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K6-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
3Gain-
MAP3K8-
-
-
-
3Gain-
MAP3K9-
-
-
-
1Loss-
MAP4K1-
-
-
-
1Loss-
MAP4K2-
-
-
-
3Gain-
MAP4K4-
-
-
-
3Gain-
MAP4K5-
-
-
-
1Loss-
MAP6-
-
-
-
3Gain-
MAP6D1-
-
-
-
0Del-
MAP7D1-
-
-
-
3Gain-
MAPK1-
-
-
-
3Gain-
MAPK15-
-
-
-
1Loss-
MAPK1IP1L-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
-
-
6Amp-
MAPK6-
-
-
-
3Gain-
MAPK7-
-
-
-
3Gain-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
3Gain-
MAPKBP1-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
-
-
6Amp-
MAPT-
-
-
-
3Gain-
MARC1-
-
-
-
1Loss-
MARC2-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCH11-
-
-
-
5Amp-
MARCH2-
-
-
-
5Amp-
MARCH4-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
5Amp-
MARCH7-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARCH9-
-
-
-
3Gain-
MARCO-
-
-
-
1Loss-
MARF1-
-
-
-
1Loss-
MARK1-
-
-
-
1Loss-
MARK2-
-
-
-
3Gain-
MARK3-
-
-
-
1Loss-
MARK4-
-
-
-
1Loss-
MARS-
-
-
-
3Gain-
MARS2-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MASP1-
-
-
-
0Del-
MAST2-
-
-
-
3Gain-
MAST3-
-
-
-
3Gain-
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN1-
-
-
-
1Loss-
MATN2-
-
-
-
6Amp-
MATN4-
-
-
-
3Gain-
MAU2-
-
-
-
3Gain-
MAVS-
-
-
-
3Gain-
MAX-
-
-
-
1Loss-
MAZ-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MB21D2-
-
-
-
0Del-
MBD1p.X76_splice
Splice_Site
SNP
0.247
6Amp-
MBD2-
-
-
-
6Amp-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
5Amp-
MBD3L3-
-
-
-
3Gain-
MBD3L4-
-
-
-
3Gain-
MBD3L5-
-
-
-
3Gain-
MBD5-
-
-
-
1Loss-
MBD6-
-
-
-
3Gain-
MBIP-
-
-
-
15Amp-
MBL2p.G86A
Missense
SNP
1.000
1Loss-
MBLAC1-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBOAT4-
-
-
-
3Gain-
MBOAT7-
-
-
-
1Loss-
MBP-
-
-
-
6Amp-
MBTD1-
-
-
-
3Gain-
MBTPS1-
-
-
-
3Gain-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
6Amp-
MC5R-
-
-
-
3Gain-
MCAM-
-
-
-
3Gain-
MCCC1-
-
-
-
0Del-
MCEMP1-
-
-
-
3Gain-
MCF2L-
-
-
-
0Del-
MCF2L2-
-
-
-
0Del-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MCM3AP-
-
-
-
3Gain-
MCM4-
-
-
-
1Loss-
MCM5-
-
-
-
1Loss-
MCM6-
-
-
-
1Loss-
MCM7-
-
-
-
1Loss-
MCM8-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCMDC2-
-
-
-
5Amp-
MCOLN1-
-
-
-
3Gain-
MCOLN2-
-
-
-
3Gain-
MCOLN3-
-
-
-
3Gain-
MCPH1-
-
-
-
3Gain-
MCRIP1-
-
-
-
3Gain-
MCRS1-
-
-
-
3Gain-
MCU-
-
-
-
1Loss-
MDFIC-
-
-
-
1Loss-
MDGA2-
-
-
-
5Amp-
MDH1B-
-
-
-
1Loss-
MDH2-
-
-
-
1Loss-
MDK-
-
-
-
1Loss-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MDM4-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
6Amp-
ME3-
-
-
-
3Gain-
MEAF6-
-
-
-
3Gain-
MECOM-
-
-
-
0Del-
MECRp.C4S
Missense
SNP
1.000
1Loss-
MED1-
-
-
-
3Gain-
MED10-
-
-
-
5Amp-
MED11-
-
-
-
1Loss-
MED13-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
3Gain-
MED18-
-
-
-
1Loss-
MED19-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED24-
-
-
-
3Gain-
MED25-
-
-
-
1Loss-
MED26-
-
-
-
3Gain-
MED29-
-
-
-
1Loss-
MED30-
-
-
-
4Gain-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
3Gain-
MED6-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MED9-
-
-
-
3Gain-
MEDAG-
-
-
-
3Gain-
MEF2A-
-
-
-
1Loss-
MEF2B-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
MEGF11-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEGF8-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MEIOC-
-
-
-
3Gain-
MEIS2-
-
-
-
1Loss-
MEIS3-
-
-
-
1Loss-
MELK-
-
-
-
3Gain-
MELTF-
-
-
-
0Del-
MEN1-
-
-
-
3Gain-
MEOX1-
-
-
-
3Gain-
MEOX2-
-
-
-
1Loss-
MEP1B-
-
-
-
6Amp-
MEPCE-
-
-
-
1Loss-
MERTK-
-
-
-
1Loss-
MESD-
-
-
-
1Loss-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METAP2-
-
-
-
3Gain-
METRNL-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL22-
-
-
-
1Loss-
METTL23-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL27-
-
-
-
1Loss-
METTL2A-
-
-
-
3Gain-
METTL2B-
-
-
-
1Loss-
METTL3-
-
-
-
3Gain-
METTL4-
-
-
-
1Loss-
METTL6-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL9-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
6Amp-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
3Gain-
MFAP2-
-
-
-
1Loss-
MFAP4-
-
-
-
3Gain-
MFAP5-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFHAS1-
-
-
-
3Gain-
MFN1-
-
-
-
0Del-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFRP-
-
-
-
3Gain-
MFSD11-
-
-
-
3Gain-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD2A-
-
-
-
3Gain-
MFSD4A-
-
-
-
1Loss-
MFSD5-
-
-
-
3Gain-
MFSD6-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MFSD9-
-
-
-
1Loss-
MGAp.X698_splice
Splice_Site
SNP
0.991
1Loss-
MGAM-
-
-
-
1Loss-
MGAM2-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT4A-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGAT5-
-
-
-
1Loss-
MGAT5B-
-
-
-
3Gain-
MGME1-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MIA2-
-
-
-
10Amp-
MIA3-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MICAL3p.G1466C
Missense
SNP
0.469
3Gain-
MICALL1-
-
-
-
1Loss-
MICALL2-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MICU2-
-
-
-
3Gain-
MICU3-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIEF2-
-
-
-
3Gain-
MIEN1-
-
-
-
3Gain-
MIER1-
-
-
-
3Gain-
MIER2-
-
-
-
1Loss-
MIF-
-
-
-
3Gain-
MIF4GD-
-
-
-
3Gain-
MIGA1-
-
-
-
3Gain-
MIGA2-
-
-
-
3Gain-
MIIP-
-
-
-
1Loss-
MILR1-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
1Loss-
MIP-
-
-
-
3Gain-
MIPEP-
-
-
-
3Gain-
MIPOL1-
-
-
-
15Amp-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
3Gain-
MIS18BP1-
-
-
-
8Amp-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
3Gain-
MITD1-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKI67-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKLN1-
-
-
-
1Loss-
MKNK1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
1Loss-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MKRN3-
-
-
-
1Loss-
MKS1-
-
-
-
3Gain-
MKX-
-
-
-
3Gain-
MLANA-
-
-
-
3Gain-
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT10-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLLT6-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLX-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MLXIPL-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMAB-
-
-
-
3Gain-
MMACHC-
-
-
-
3Gain-
MMADHC-
-
-
-
1Loss-
MMD-
-
-
-
3Gain-
MMD2-
-
-
-
1Loss-
MMEL1-
-
-
-
3Gain-
MMP1-
-
-
-
3Gain-
MMP10-
-
-
-
3Gain-
MMP11-
-
-
-
3Gain-
MMP12-
-
-
-
3Gain-
MMP13-
-
-
-
3Gain-
MMP14-
-
-
-
3Gain-
MMP15-
-
-
-
3Gain-
MMP16-
-
-
-
6Amp-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP2-
-
-
-
3Gain-
MMP20-
-
-
-
3Gain-
MMP21-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP24-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
3Gain-
MMP28-
-
-
-
3Gain-
MMP3-
-
-
-
3Gain-
MMP7-
-
-
-
3Gain-
MMP8-
-
-
-
3Gain-
MMP9-
-
-
-
3Gain-
MMRN1p.S989W
Missense
SNP
0.360
2--
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOB3C-
-
-
-
3Gain-
MOB4-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
6Amp-
MOCS3p.V194L
Missense
SNP
0.505
3Gain-
MOGAT1-
-
-
-
1Loss-
MOGAT2-
-
-
-
3Gain-
MOGAT3-
-
-
-
1Loss-
MOGS-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MON2-
-
-
-
3Gain-
MORC2-
-
-
-
1Loss-
MORC3-
-
-
-
3Gain-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MORN4-
-
-
-
1Loss-
MORN5-
-
-
-
3Gain-
MOS-
-
-
-
5Amp-
MOSMO-
-
-
-
1Loss-
MOSPD3-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPEG1-
-
-
-
3Gain-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
3Gain-
MPI-
-
-
-
1Loss-
MPL-
-
-
-
3Gain-
MPLKIP-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPO-
-
-
-
3Gain-
MPP2-
-
-
-
3Gain-
MPP3-
-
-
-
3Gain-
MPP4-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP6-
-
-
-
1Loss-
MPP7-
-
-
-
3Gain-
MPPE1-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPRIP-
-
-
-
3Gain-
MPST-
-
-
-
1Loss-
MPV17L-
-
-
-
1Loss-
MPV17L2-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
3Gain-
MPZL3-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP-
-
-
-
3Gain-
MRAP2p.S17T
Missense
SNP
1.000
2--
MRC1p.A38G
p.A1156S
Missense
Missense
SNP
SNP
0.679
0.337
3Gain-
MRC2-
-
-
-
3Gain-
MRE11-
-
-
-
3Gain-
MREGp.G195W
Missense
SNP
1.000
1Loss-
MRGBP-
-
-
-
3Gain-
MRGPRD-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
3Gain-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM1-
-
-
-
3Gain-
MRM2-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
6Amp-
MROH1-
-
-
-
1Loss-
MROH2B-
-
-
-
5Amp-
MROH5p.N25I
Missense
SNP
0.990
1Loss-
MROH6-
-
-
-
1Loss-
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL10-
-
-
-
3Gain-
MRPL11-
-
-
-
3Gain-
MRPL12-
-
-
-
3Gain-
MRPL13-
-
-
-
4Gain-
MRPL15-
-
-
-
5Amp-
MRPL16-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL19-
-
-
-
1Loss-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
3Gain-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL27-
-
-
-
3Gain-
MRPL30-
-
-
-
3Gain-
MRPL32-
-
-
-
1Loss-
MRPL34-
-
-
-
3Gain-
MRPL35-
-
-
-
1Loss-
MRPL36-
-
-
-
5Amp-
MRPL37-
-
-
-
3Gain-
MRPL38-
-
-
-
3Gain-
MRPL39-
-
-
-
3Gain-
MRPL4-
-
-
-
5Amp-
MRPL40-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL45-
-
-
-
3Gain-
MRPL46-
-
-
-
1Loss-
MRPL47-
-
-
-
0Del-
MRPL48-
-
-
-
3Gain-
MRPL49-
-
-
-
3Gain-
MRPL50-
-
-
-
3Gain-
MRPL51-
-
-
-
1Loss-
MRPL52-
-
-
-
3Gain-
MRPL53-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
3Gain-
MRPL58-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS12-
-
-
-
1Loss-
MRPS14-
-
-
-
3Gain-
MRPS15-
-
-
-
3Gain-
MRPS16-
-
-
-
1Loss-
MRPS17-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS24-
-
-
-
1Loss-
MRPS25-
-
-
-
3Gain-
MRPS26-
-
-
-
3Gain-
MRPS28-
-
-
-
6Amp-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS33-
-
-
-
1Loss-
MRPS35-
-
-
-
3Gain-
MRPS5-
-
-
-
1Loss-
MRPS6-
-
-
-
3Gain-
MRPS7-
-
-
-
3Gain-
MRPS9-
-
-
-
1Loss-
MRRF-
-
-
-
3Gain-
MRTFB-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MS4A1-
-
-
-
3Gain-
MS4A10-
-
-
-
3Gain-
MS4A12-
-
-
-
3Gain-
MS4A13-
-
-
-
3Gain-
MS4A14-
-
-
-
3Gain-
MS4A15-
-
-
-
3Gain-
MS4A18-
-
-
-
3Gain-
MS4A2-
-
-
-
3Gain-
MS4A3-
-
-
-
3Gain-
MS4A4A-
-
-
-
3Gain-
MS4A4E-
-
-
-
3Gain-
MS4A5-
-
-
-
3Gain-
MS4A6A-
-
-
-
3Gain-
MS4A6E-
-
-
-
3Gain-
MS4A7-
-
-
-
3Gain-
MS4A8-
-
-
-
3Gain-
MSANTD2-
-
-
-
3Gain-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSANTD4-
-
-
-
3Gain-
MSC-
-
-
-
5Amp-
MSH4-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSI2-
-
-
-
3Gain-
MSL1-
-
-
-
3Gain-
MSMB-
-
-
-
1Loss-
MSMP-
-
-
-
3Gain-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MSS51-
-
-
-
1Loss-
MSTN-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MT1A-
-
-
-
3Gain-
MT1B-
-
-
-
3Gain-
MT1E-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
3Gain-
MT2A-
-
-
-
3Gain-
MT3-
-
-
-
3Gain-
MT4-
-
-
-
3Gain-
MTA1-
-
-
-
1Loss-
MTA2-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTBP-
-
-
-
4Gain-
MTCH2-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTDH-
-
-
-
6Amp-
MTERF1-
-
-
-
1Loss-
MTERF2-
-
-
-
3Gain-
MTERF3-
-
-
-
6Amp-
MTF1-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
5Amp-
MTFR1L-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTIF3-
-
-
-
3Gain-
MTMR10-
-
-
-
1Loss-
MTMR11p.I133N
Missense
SNP
0.424
3Gain-
MTMR12-
-
-
-
5Amp-
MTMR14-
-
-
-
3Gain-
MTMR2-
-
-
-
3Gain-
MTMR3-
-
-
-
1Loss-
MTMR4-
-
-
-
3Gain-
MTMR6-
-
-
-
3Gain-
MTMR7-
-
-
-
3Gain-
MTMR9p.X139_splice
Splice_Site
SNP
0.580
3Gain-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTPN-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTRR-
-
-
-
5Amp-
MTSS1-
-
-
-
4Gain-
MTSS1L-
-
-
-
1Loss-
MTURN-
-
-
-
1Loss-
MTUS1-
-
-
-
3Gain-
MTUS2-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC12p.M3154T
Missense
SNP
0.131
1Loss-
MUC15-
-
-
-
1Loss-
MUC16p.T7143S
Missense
SNP
1.000
5Amp-
MUC17-
-
-
-
1Loss-
MUC19-
-
-
-
3Gain-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
0Del-
MUC3A-
-
-
-
1Loss-
MUC4-
-
-
-
0Del-
MUC5AC-
-
-
-
1Loss-
MUC5Bp.X560_splice
Splice_Site
SNP
1.000
1Loss-
MUC6-
-
-
-
1Loss-
MUCL1-
-
-
-
3Gain-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUS81-
-
-
-
3Gain-
MUSK-
-
-
-
3Gain-
MUTYH-
-
-
-
3Gain-
MVB12A-
-
-
-
3Gain-
MVB12B-
-
-
-
3Gain-
MVD-
-
-
-
1Loss-
MVK-
-
-
-
3Gain-
MVP-
-
-
-
1Loss-
MX1-
-
-
-
3Gain-
MX2-
-
-
-
3Gain-
MXI1-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
3Gain-
MYADM-
-
-
-
1Loss-
MYADML2-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
5Amp-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
3Gain-
MYBPC2-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYBPH-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYC-
-
-
-
4Gain-
MYCBP-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCBPAP-
-
-
-
3Gain-
MYCL-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
3Gain-
MYEOV-
-
-
-
3Gain-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH1p.E1906*
Nonsense
SNP
0.992
1Loss-
MYH10-
-
-
-
1Loss-
MYH11-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH14-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E36G
Missense
SNP
0.417
3Gain-
MYH7-
-
-
-
3Gain-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL10-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL2-
-
-
-
3Gain-
MYL4-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7p.D125Y
Missense
SNP
1.000
1Loss-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYLPF-
-
-
-
1Loss-
MYNN-
-
-
-
0Del-
MYO10-
-
-
-
5Amp-
MYO15A-
-
-
-
3Gain-
MYO15B-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO18A-
-
-
-
3Gain-
MYO18B-
-
-
-
1Loss-
MYO19-
-
-
-
3Gain-
MYO1A-
-
-
-
3Gain-
MYO1B-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO1E-
-
-
-
3Gain-
MYO1F-
-
-
-
5Amp-
MYO1G-
-
-
-
1Loss-
MYO1H-
-
-
-
3Gain-
MYO3A-
-
-
-
3Gain-
MYO5Ap.V1529G
p.A695S
Missense
Missense
SNP
SNP
0.498
0.518
3Gain-
MYO5B-
-
-
-
6Amp-
MYO5C-
-
-
-
3Gain-
MYO6-
-
-
-
2-RNA5-8SN2--MYO6
MYO7Ap.R702L
p.R1708L
Missense
Missense
SNP
SNP
0.539
0.471
3Gain-
MYO7B-
-
-
-
1Loss-
MYO9A-
-
-
-
5Amp-
MYO9B-
-
-
-
3Gain-
MYOC-
-
-
-
3Gain-
MYOCDp.S229C
Missense
SNP
0.629
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOGp.R123L
Missense
SNP
0.953
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM2-
-
-
-
3Gain-
MYOM3-
-
-
-
1Loss-
MYORG-
-
-
-
3Gain-
MYOZ1-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYRF-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MYRIP-
-
-
-
1Loss-
MYSM1-
-
-
-
3Gain-
MYT1-
-
-
-
3Gain-
MYT1L-
-
-
-
1Loss-
MYZAP-
-
-
-
3Gain-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
N6AMT1-
-
-
-
3Gain-
NAA16-
-
-
-
3Gain-
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAA30-
-
-
-
1Loss-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
3Gain-
NAALAD2-
-
-
-
3Gain-
NAALADL1-
-
-
-
3Gain-
NAALADL2-
-
-
-
0Del-
NAB1-
-
-
-
1Loss-
NAB2-
-
-
-
3Gain-
NABP1-
-
-
-
1Loss-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACA2-
-
-
-
3Gain-
NACAD-
-
-
-
1Loss-
NACC1-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NADK2-
-
-
-
5Amp-
NADSYN1-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAGLU-
-
-
-
3Gain-
NAGPA-
-
-
-
1Loss-
NAGS-
-
-
-
3Gain-
NAIF1-
-
-
-
3Gain-
NALCN-
-
-
-
1Loss-
NAMPT-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L4-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPEPLD-
-
-
-
1Loss-
NAPG-
-
-
-
1Loss-
NAPRT-
-
-
-
1Loss-
NAPSA-
-
-
-
1Loss-
NARF-
-
-
-
3Gain-
NARS-
-
-
-
6Amp-
NARS2-
-
-
-
3Gain-
NASP-
-
-
-
3Gain-
NAT1-
-
-
-
3Gain-
NAT10-
-
-
-
1Loss-
NAT14-
-
-
-
1Loss-
NAT16-
-
-
-
1Loss-
NAT2-
-
-
-
3Gain-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
3Gain-
NAV1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3p.S2111Rfs*12
Frame_Shift_Del
DEL
0.371
3Gain-
NAXD-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEAp.L164Ffs*2
Frame_Shift_Del
DEL
0.971
3Gain-
NBEAL1-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBN-
-
-
-
8Amp-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBR1-
-
-
-
3Gain-
NCALDp.G53V
Missense
SNP
0.989
4Gain-
NCAM1-
-
-
-
3Gain-
NCAM2-
-
-
-
3Gain-
NCAN-
-
-
-
3Gain-
NCAPD2-
-
-
-
1Loss-
NCAPD3-
-
-
-
3Gain-
NCAPG2-
-
-
-
1Loss-
NCAPH-
-
-
-
1Loss-
NCBP1-
-
-
-
3Gain-
NCBP2-
-
-
-
0Del-
NCBP2-AS2-
-
-
-
0Del-
NCBP3-
-
-
-
1Loss-
NCCRP1-
-
-
-
1Loss-
NCEH1-
-
-
-
0Del-
NCF1-
-
-
-
1Loss-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCK2-
-
-
-
1Loss-
NCKAP1-
-
-
-
1Loss-
NCKAP1L-
-
-
-
3Gain-
NCKAP5-
-
-
-
1Loss-
NCKAP5Lp.S491I
Missense
SNP
0.398
3Gain-
NCL-
-
-
-
1Loss-
NCLNp.S163F
Missense
SNP
0.479
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA2p.R1221M
Missense
SNP
0.998
5Amp-
NCOA3-
-
-
-
3Gain-
NCOA4-
-
-
-
1Loss-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
3Gain-
NCOR2-
-
-
-
3Gain-
NCR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCS1-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDC1-
-
-
-
3Gain-
NDC80-
-
-
-
1Loss-
NDE1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDRG4-
-
-
-
3Gain-
NDST2-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA12-
-
-
-
3Gain-
NDUFA13-
-
-
-
3Gain-
NDUFA3-
-
-
-
1Loss-
NDUFA4-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
3Gain-
NDUFA5-
-
-
-
1Loss-
NDUFA7-
-
-
-
5Amp-
NDUFA8-
-
-
-
3Gain-
NDUFA9-
-
-
-
1Loss-
NDUFAB1-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
6Amp-
NDUFAF8-
-
-
-
3Gain-
NDUFB1-
-
-
-
1Loss-
NDUFB2-
-
-
-
1Loss-
NDUFB5-
-
-
-
0Del-
NDUFB6-
-
-
-
3Gain-
NDUFB7-
-
-
-
3Gain-
NDUFB8-
-
-
-
1Loss-
NDUFB9-
-
-
-
4Gain-
NDUFC2-
-
-
-
3Gain-
NDUFC2-KCTD14-
-
-
-
3Gain-
NDUFS1-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS5-
-
-
-
3Gain-
NDUFS6-
-
-
-
5Amp-
NDUFS7-
-
-
-
1Loss-
NDUFS8-
-
-
-
3Gain-
NDUFV1-
-
-
-
3Gain-
NDUFV2-
-
-
-
1Loss-
NDUFV3-
-
-
-
3Gain-
NEB-
-
-
-
1Loss-
NEBL-
-
-
-
3Gain-
NECAB1-
-
-
-
6Amp-
NECAB2-
-
-
-
1Loss-
NECAB3-
-
-
-
3Gain-
NECAP1-
-
-
-
1Loss-
NECAP2-
-
-
-
1Loss-
NECTIN1-
-
-
-
3Gain-
NECTIN2-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEDD4L-
-
-
-
6Amp-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFHp.Q135E
Missense
SNP
1.000
1Loss-
NEFL-
-
-
-
3Gain-
NEFMp.E278K
Missense
SNP
0.515
3Gain-
NEGR1-
-
-
-
3Gain-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK2-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK6-
-
-
-
3Gain-
NEK7-
-
-
-
1Loss-
NEK8-
-
-
-
3Gain-
NEK9-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELL1-
-
-
-
1Loss-
NELL2-
-
-
-
3Gain-
NEMF-
-
-
-
1Loss-
NEMP1-
-
-
-
3Gain-
NEMP2-
-
-
-
1Loss-
NENF-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NES-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
6Amp-
NETO2-
-
-
-
1Loss-
NEU3-
-
-
-
3Gain-
NEURL1-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL3-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD1-
-
-
-
1Loss-
NEUROD2-
-
-
-
3Gain-
NEUROD4-
-
-
-
3Gain-
NEUROD6-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NEXN-
-
-
-
3Gain-
NF1-
-
-
-
3Gain-
NF2-
-
-
-
1Loss-
NFASC-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
6Amp-
NFATC2-
-
-
-
3Gain-
NFATC2IP-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFE2L1-
-
-
-
3Gain-
NFE2L2p.G81_P85del
In_Frame_Del
DEL
0.890
2--
NFE2L3-
-
-
-
1Loss-
NFE4-
-
-
-
1Loss-
NFIA-
-
-
-
3Gain-
NFIB-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFIL3-
-
-
-
3Gain-
NFIX-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIA-
-
-
-
6Amp-
NFKBIB-
-
-
-
1Loss-
NFKBID-
-
-
-
1Loss-
NFRKB-
-
-
-
3Gain-
NFS1-
-
-
-
3Gain-
NFX1-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NFYC-
-
-
-
3Gain-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
3Gain-
NGF-
-
-
-
1Loss-
NGFRp.V100L
Missense
SNP
0.483
3Gain-
NGLY1-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHLH2-
-
-
-
1Loss-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NID2-
-
-
-
1Loss-
NIF3L1-
-
-
-
1Loss-
NIFK-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NIN-
-
-
-
1Loss-
NINJ1-
-
-
-
3Gain-
NINJ2-
-
-
-
1Loss-
NINLp.D915H
p.R469S
Missense
Missense
SNP
SNP
0.145
0.425
3Gain-
NIP7-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
6Amp-
NIPAL3-
-
-
-
1Loss-
NIPBL-
-
-
-
5Amp-
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
1Loss-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN1-
-
-
-
1Loss-
NKAIN3-
-
-
-
5Amp-
NKAIN4-
-
-
-
3Gain-
NKAPD1-
-
-
-
3Gain-
NKAPLp.K246N
Missense
SNP
1.000
2--
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
5Amp-
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
3Gain-
NKPD1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-1-
-
-
-
15Amp-
NKX2-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
1Loss-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
3Gain-
NKX2-8-
-
-
-
15Amp-
NKX3-1-
-
-
-
3Gain-
NKX6-2-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLE1-
-
-
-
3Gain-
NLGN1-
-
-
-
0Del-
NLGN2-
-
-
-
1Loss-
NLGN4Xp.S799T
p.M169I
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
NLK-
-
-
-
3Gain-
NLRC5p.Q1365H
Missense
SNP
0.511
3Gain-
NLRP1-
-
-
-
1Loss-
NLRP10p.E48V
Missense
SNP
1.000
1Loss-
NLRP11p.S525*
Nonsense
SNP
1.000
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP2p.G306V
p.C889F
Missense
Missense
SNP
SNP
1.000
1.000
1Loss-
NLRP3-
-
-
-
5Amp-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8p.P171Lfs*53
Frame_Shift_Del
DEL
0.981
1Loss-
NLRP9-
-
-
-
1Loss-
NLRX1-
-
-
-
3Gain-
NMB-
-
-
-
1Loss-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
1Loss-
NMI-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NMRK1-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMS-
-
-
-
3Gain-
NMT1-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NMU-
-
-
-
0Del-
NMUR1-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NNMT-
-
-
-
3Gain-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
0Del-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
1Loss-
NOC2L-
-
-
-
3Gain-
NOC3L-
-
-
-
1Loss-
NOC4L-
-
-
-
3Gain-
NOD1-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL12-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
6Amp-
NOL4L-
-
-
-
1Loss-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOL9-
-
-
-
3Gain-
NOLC1-
-
-
-
1Loss-
NOM1-
-
-
-
1Loss-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOP58-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS1-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOS2-
-
-
-
3Gain-
NOS3-
-
-
-
1Loss-
NOSIP-
-
-
-
1Loss-
NOTCH2-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH3-
-
-
-
3Gain-
NOTUM-
-
-
-
3Gain-
NOV-
-
-
-
4Gain-
NOVA1-
-
-
-
11Amp-
NOVA2-
-
-
-
1Loss-
NOX4-
-
-
-
3Gain-
NOX5-
-
-
-
3Gain-
NOXRED1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAS1-
-
-
-
1Loss-
NPAS2-
-
-
-
3Gain-
NPAS3-
-
-
-
11Amp-
NPAS4-
-
-
-
3Gain-
NPAT-
-
-
-
3Gain-
NPB-
-
-
-
3Gain-
NPBWR1-
-
-
-
5Amp-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
6Amp-
NPC1L1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPEPPS-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPHP1-
-
-
-
1Loss-
NPHP4-
-
-
-
3Gain-
NPHS1-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPLOC4-
-
-
-
3Gain-
NPM2-
-
-
-
3Gain-
NPM3-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
3Gain-
NPR3p.R45T
p.V358I
Missense
Missense
SNP
SNP
0.359
0.612
5Amp-
NPS-
-
-
-
1Loss-
NPSR1-
-
-
-
1Loss-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
3Gain-
NPTX2-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NPVF-
-
-
-
1Loss-
NPY-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1D1-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1H4-
-
-
-
3Gain-
NR1I3-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2C2-
-
-
-
3Gain-
NR2C2AP-
-
-
-
3Gain-
NR2E3-
-
-
-
5Amp-
NR2F6-
-
-
-
3Gain-
NR4A1-
-
-
-
3Gain-
NR4A2-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR5A2-
-
-
-
1Loss-
NR6A1-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRAS-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP2-
-
-
-
1Loss-
NRCAM-
-
-
-
1Loss-
NRDC-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRG1-
-
-
-
3Gain-
NRG3-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRGN-
-
-
-
3Gain-
NRIP1-
-
-
-
3Gain-
NRIP2-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRP1-
-
-
-
3Gain-
NRP2-
-
-
-
1Loss-
NRROS-
-
-
-
0Del-
NRSN2-
-
-
-
3Gain-
NRTN-
-
-
-
1Loss-
NRXN1p.T318Rfs*24
Frame_Shift_Del
DEL
0.895
2--
NRXN2-
-
-
-
3Gain-
NRXN3-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSL1-
-
-
-
1Loss-
NSMAF-
-
-
-
5Amp-
NSMCE1-
-
-
-
1Loss-
NSMCE2-
-
-
-
4Gain-
NSMCE3-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1-
-
-
-
3Gain-
NSUN2-
-
-
-
5Amp-
NSUN4-
-
-
-
3Gain-
NSUN5p.E77D
Missense
SNP
1.000
1Loss-
NSUN6-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NT5C3A-
-
-
-
1Loss-
NT5C3B-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NT5DC4-
-
-
-
1Loss-
NT5M-
-
-
-
3Gain-
NTAN1-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTF4-
-
-
-
1Loss-
NTM-
-
-
-
3Gain-
NTMT1-
-
-
-
3Gain-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
3Gain-
NTN5-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK2-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTS-
-
-
-
3Gain-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUAK2-
-
-
-
1Loss-
NUB1-
-
-
-
1Loss-
NUBP1-
-
-
-
1Loss-
NUBPL-
-
-
-
11Amp-
NUCB1-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUCKS1-
-
-
-
1Loss-
NUDC-
-
-
-
1Loss-
NUDCD1-
-
-
-
4Gain-
NUDCD3-
-
-
-
1Loss-
NUDT1-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
3Gain-
NUDT19-
-
-
-
1Loss-
NUDT2-
-
-
-
3Gain-
NUDT21-
-
-
-
3Gain-
NUDT22-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUDT8-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUFIP2-
-
-
-
3Gain-
NUGGC-
-
-
-
3Gain-
NUMA1-
-
-
-
3Gain-
NUMB-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP107-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
5Amp-
NUP160-
-
-
-
1Loss-
NUP188-
-
-
-
3Gain-
NUP205-
-
-
-
1Loss-
NUP210p.X1185_splice
Splice_Site
SNP
0.452
3Gain-
NUP210L-
-
-
-
3Gain-
NUP35-
-
-
-
1Loss-
NUP37-
-
-
-
3Gain-
NUP58-
-
-
-
3Gain-
NUP62-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
1Loss-
NUPR1-
-
-
-
1Loss-
NUPR2-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NWD1-
-
-
-
3Gain-
NWD2-
-
-
-
1Loss-
NXF1-
-
-
-
3Gain-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
3Gain-
NXNL2-
-
-
-
3Gain-
NXPE1-
-
-
-
3Gain-
NXPE2-
-
-
-
3Gain-
NXPE4-
-
-
-
3Gain-
NXPH1-
-
-
-
1Loss-
NXPH2-
-
-
-
1Loss-
NXPH3-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NXT1-
-
-
-
3Gain-
NYAP1-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OAF-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3p.E993Q
Missense
SNP
0.516
3Gain-
OASL-
-
-
-
3Gain-
OAT-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCNp.G1142V
Missense
SNP
1.000
3Gain-
OBSL1-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCA2-
-
-
-
3Gain-
OCEL1-
-
-
-
3Gain-
OCLM-
-
-
-
5Amp-
OCM-
-
-
-
1Loss-
OCM2-
-
-
-
1Loss-
OCSTAMP-
-
-
-
3Gain-
ODF1-
-
-
-
4Gain-
ODF2-
-
-
-
3Gain-
ODF2L-
-
-
-
3Gain-
ODF3p.L99M
Missense
SNP
0.978
1Loss-
ODF3L1-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
5Amp-
OGA-
-
-
-
1Loss-
OGDH-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
3Gain-
OGFOD2-
-
-
-
3Gain-
OGFOD3-
-
-
-
3Gain-
OGFR-
-
-
-
3Gain-
OGG1-
-
-
-
3Gain-
OGN-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLAH-
-
-
-
3Gain-
OLFM2-
-
-
-
5Amp-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2A-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLIG1-
-
-
-
3Gain-
OLIG2-
-
-
-
3Gain-
OLR1-
-
-
-
1Loss-
OMA1-
-
-
-
3Gain-
OMD-
-
-
-
3Gain-
OMG-
-
-
-
3Gain-
OMP-
-
-
-
3Gain-
ONECUT1-
-
-
-
3Gain-
ONECUT2-
-
-
-
6Amp-
ONECUT3-
-
-
-
1Loss-
OOSP1-
-
-
-
3Gain-
OOSP2-
-
-
-
3Gain-
OPA1-
-
-
-
0Del-
OPA3-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
3Gain-
OPLAH-
-
-
-
1Loss-
OPN1SW-
-
-
-
1Loss-
OPN3-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
5Amp-
OPRL1-
-
-
-
3Gain-
OPTC-
-
-
-
1Loss-
OPTN-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3p.L27V
Missense
SNP
1.000
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10AG1-
-
-
-
3Gain-
OR10D3p.N202K
Missense
SNP
0.542
3Gain-
OR10G2-
-
-
-
3Gain-
OR10G3-
-
-
-
3Gain-
OR10G4-
-
-
-
3Gain-
OR10G7-
-
-
-
3Gain-
OR10G8-
-
-
-
3Gain-
OR10G9-
-
-
-
3Gain-
OR10H1-
-
-
-
3Gain-
OR10H2-
-
-
-
3Gain-
OR10H3-
-
-
-
3Gain-
OR10H4-
-
-
-
3Gain-
OR10H5-
-
-
-
3Gain-
OR10J1p.G107V
Missense
SNP
1.000
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR10Q1-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
3Gain-
OR10W1-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11G2-
-
-
-
3Gain-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR11L1-
-
-
-
5Amp-
OR13A1-
-
-
-
1Loss-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR13G1-
-
-
-
5Amp-
OR13J1-
-
-
-
3Gain-
OR14A16-
-
-
-
5Amp-
OR14A2-
-
-
-
5Amp-
OR14C36-
-
-
-
5Amp-
OR14I1p.L283R
Missense
SNP
0.319
5Amp-
OR14K1-
-
-
-
5Amp-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
3Gain-
OR1C1-
-
-
-
5Amp-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
3Gain-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1M1-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR1S1-
-
-
-
3Gain-
OR1S2-
-
-
-
3Gain-
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AE1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
5Amp-
OR2AK2-
-
-
-
5Amp-
OR2AP1-
-
-
-
3Gain-
OR2AT4-
-
-
-
3Gain-
OR2B11-
-
-
-
5Amp-
OR2C3-
-
-
-
5Amp-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
OR2G2-
-
-
-
5Amp-
OR2G3-
-
-
-
5Amp-
OR2G6-
-
-
-
5Amp-
OR2K2-
-
-
-
3Gain-
OR2L13-
-
-
-
5Amp-
OR2L2-
-
-
-
5Amp-
OR2L3-
-
-
-
5Amp-
OR2L5-
-
-
-
5Amp-
OR2L8-
-
-
-
5Amp-
OR2M2-
-
-
-
5Amp-
OR2M3-
-
-
-
5Amp-
OR2M4-
-
-
-
5Amp-
OR2M5-
-
-
-
5Amp-
OR2M7p.S21R
Missense
SNP
0.704
5Amp-
OR2S2-
-
-
-
3Gain-
OR2T1-
-
-
-
5Amp-
OR2T12-
-
-
-
5Amp-
OR2T2-
-
-
-
5Amp-
OR2T27-
-
-
-
5Amp-
OR2T29-
-
-
-
5Amp-
OR2T3-
-
-
-
5Amp-
OR2T33-
-
-
-
5Amp-
OR2T34-
-
-
-
5Amp-
OR2T35-
-
-
-
5Amp-
OR2T4-
-
-
-
5Amp-
OR2T5-
-
-
-
5Amp-
OR2T6-
-
-
-
5Amp-
OR2T8-
-
-
-
5Amp-
OR2V2p.H129Q
Missense
SNP
0.987
2--
OR2W3-
-
-
-
5Amp-
OR2Z1p.L184I
Missense
SNP
1.000
5Amp-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
3Gain-
OR4C12-
-
-
-
1Loss-
OR4C13p.V45F
Missense
SNP
1.000
1Loss-
OR4C15-
-
-
-
3Gain-
OR4C16-
-
-
-
3Gain-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6p.V28M
Missense
SNP
0.442
3Gain-
OR4D1-
-
-
-
3Gain-
OR4D10-
-
-
-
3Gain-
OR4D11-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5-
-
-
-
3Gain-
OR4D6-
-
-
-
3Gain-
OR4D9-
-
-
-
3Gain-
OR4E2-
-
-
-
3Gain-
OR4F15-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F5-
-
-
-
3Gain-
OR4F6-
-
-
-
1Loss-
OR4K1-
-
-
-
3Gain-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
3Gain-
OR4K17-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4L1-
-
-
-
3Gain-
OR4M2-
-
-
-
1Loss-
OR4N2-
-
-
-
3Gain-
OR4N4-
-
-
-
1Loss-
OR4N5-
-
-
-
3Gain-
OR4P4p.A228S
Missense
SNP
0.477
3Gain-
OR4Q2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR4S1-
-
-
-
1Loss-
OR4S2-
-
-
-
3Gain-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
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-
OR5A1-
-
-
-
3Gain-
OR5A2-
-
-
-
3Gain-
OR5AK2-
-
-
-
3Gain-
OR5AN1-
-
-
-
3Gain-
OR5AP2-
-
-
-
3Gain-
OR5AR1-
-
-
-
3Gain-
OR5AS1-
-
-
-
3Gain-
OR5AU1-
-
-
-
3Gain-
OR5B12-
-
-
-
3Gain-
OR5B17-
-
-
-
3Gain-
OR5B2-
-
-
-
3Gain-
OR5B21-
-
-
-
3Gain-
OR5B3-
-
-
-
3Gain-
OR5BS1P-
-
-
-
3Gain-
OR5C1-
-
-
-
3Gain-
OR5D13-
-
-
-
3Gain-
OR5D14-
-
-
-
3Gain-
OR5D16-
-
-
-
3Gain-
OR5D18-
-
-
-
3Gain-
OR5F1-
-
-
-
3Gain-
OR5I1-
-
-
-
3Gain-
OR5J2-
-
-
-
3Gain-
OR5L1-
-
-
-
3Gain-
OR5L2-
-
-
-
3Gain-
OR5M1-
-
-
-
3Gain-
OR5M10-
-
-
-
3Gain-
OR5M11-
-
-
-
3Gain-
OR5M3-
-
-
-
3Gain-
OR5M8-
-
-
-
3Gain-
OR5M9-
-
-
-
3Gain-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5R1-
-
-
-
3Gain-
OR5T1-
-
-
-
3Gain-
OR5T2-
-
-
-
3Gain-
OR5T3p.F56I
Missense
SNP
0.474
3Gain-
OR5W2p.G213R
Missense
SNP
0.516
3Gain-
OR6A2-
-
-
-
1Loss-
OR6B1-
-
-
-
1Loss-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR6F1-
-
-
-
5Amp-
OR6J1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Q1-
-
-
-
3Gain-
OR6S1-
-
-
-
3Gain-
OR6T1-
-
-
-
3Gain-
OR6V1-
-
-
-
1Loss-
OR6X1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7A10-
-
-
-
3Gain-
OR7A17-
-
-
-
3Gain-
OR7A5-
-
-
-
3Gain-
OR7C1-
-
-
-
3Gain-
OR7C2-
-
-
-
3Gain-
OR7D2-
-
-
-
3Gain-
OR7D4-
-
-
-
3Gain-
OR7E24-
-
-
-
3Gain-
OR7G1-
-
-
-
3Gain-
OR7G2-
-
-
-
3Gain-
OR7G3-
-
-
-
3Gain-
OR8A1-
-
-
-
3Gain-
OR8B12-
-
-
-
3Gain-
OR8B2-
-
-
-
3Gain-
OR8B3-
-
-
-
3Gain-
OR8B4-
-
-
-
3Gain-
OR8B8-
-
-
-
3Gain-
OR8D1-
-
-
-
3Gain-
OR8D2-
-
-
-
3Gain-
OR8D4-
-
-
-
3Gain-
OR8G1-
-
-
-
3Gain-
OR8G5-
-
-
-
3Gain-
OR8H1-
-
-
-
3Gain-
OR8H2-
-
-
-
3Gain-
OR8H3-
-
-
-
3Gain-
OR8I2-
-
-
-
3Gain-
OR8J1-
-
-
-
3Gain-
OR8J3-
-
-
-
3Gain-
OR8K1-
-
-
-
3Gain-
OR8K3-
-
-
-
3Gain-
OR8K5-
-
-
-
3Gain-
OR8S1-
-
-
-
3Gain-
OR8U1-
-
-
-
3Gain-
OR9A2-
-
-
-
1Loss-
OR9A4-
-
-
-
1Loss-
OR9G1-
-
-
-
3Gain-
OR9G4-
-
-
-
3Gain-
OR9I1-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
OR9Q1-
-
-
-
3Gain-
OR9Q2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI2-
-
-
-
1Loss-
ORAI3-
-
-
-
1Loss-
ORC1-
-
-
-
3Gain-
ORC2-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
ORC6-
-
-
-
1Loss-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL1-
-
-
-
1Loss-
ORMDL2-
-
-
-
3Gain-
ORMDL3-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBP-
-
-
-
3Gain-
OSBP2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL1A-
-
-
-
6Amp-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSBPL7-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
3Gain-
OSCAR-
-
-
-
1Loss-
OSCP1-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSGEP-
-
-
-
3Gain-
OSGEPL1-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
8Amp-
OSM-
-
-
-
1Loss-
OSMR-
-
-
-
5Amp-
OSR2-
-
-
-
6Amp-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
0Del-
OTOA-
-
-
-
1Loss-
OTOFp.P930T
Missense
SNP
0.974
2--
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
3Gain-
OTOL1p.G206V
Missense
SNP
0.933
0Del-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTOR-
-
-
-
3Gain-
OTUB1-
-
-
-
3Gain-
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
3Gain-
OTUD3-
-
-
-
1Loss-
OTUD4p.D239Y
Missense
SNP
0.394
2--
OTUD6B-
-
-
-
6Amp-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
5Amp-
OTULINL-
-
-
-
5Amp-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH1-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OVOL1-
-
-
-
3Gain-
OVOL2-
-
-
-
3Gain-
OVOL3-
-
-
-
1Loss-
OXA1L-
-
-
-
3Gain-
OXCT1-
-
-
-
5Amp-
OXCT2-
-
-
-
3Gain-
OXGR1-
-
-
-
1Loss-
OXLD1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
4Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
3Gain-
OXTR-
-
-
-
3Gain-
P2RX1-
-
-
-
1Loss-
P2RX2-
-
-
-
3Gain-
P2RX3-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6p.W370C
Missense
SNP
0.530
3Gain-
P2RX7-
-
-
-
3Gain-
P2RY11-
-
-
-
5Amp-
P2RY2-
-
-
-
3Gain-
P2RY6-
-
-
-
3Gain-
P3H1-
-
-
-
3Gain-
P3H2-
-
-
-
0Del-
P3H3-
-
-
-
1Loss-
P3H4-
-
-
-
3Gain-
P4HA1-
-
-
-
1Loss-
P4HA3-
-
-
-
3Gain-
P4HB-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PAAF1-
-
-
-
3Gain-
PABPC1-
-
-
-
4Gain-
PABPC1L-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PABPC4-
-
-
-
3Gain-
PABPN1-
-
-
-
3Gain-
PABPN1L-
-
-
-
1Loss-
PACS1-
-
-
-
3Gain-
PACS2-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAF1p.S79F
Missense
SNP
1.000
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
3Gain-
PAFAH1B3-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAG1-
-
-
-
6Amp-
PAGR1-
-
-
-
1Loss-
PAH-
-
-
-
3Gain-
PAICS-
-
-
-
0Del-
PAIP1-
-
-
-
3Gain-
PAK1-
-
-
-
3Gain-
PAK2-
-
-
-
0Del-
PAK4-
-
-
-
1Loss-
PAK5-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALB2-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALM-
-
-
-
3Gain-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PALM3-
-
-
-
3Gain-
PAM16-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PAN2-
-
-
-
3Gain-
PAN3-
-
-
-
3Gain-
PANK1-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANK4-
-
-
-
3Gain-
PANX1-
-
-
-
3Gain-
PANX3-
-
-
-
3Gain-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLB-
-
-
-
1Loss-
PAPPA-
-
-
-
3Gain-
PAPPA2p.G1451R
Missense
SNP
1.000
3Gain-
PAPSS2-
-
-
-
1Loss-
PAQR5-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
1Loss-
PARD3-
-
-
-
3Gain-
PARD3B-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6Bp.S103P
Missense
SNP
0.466
3Gain-
PARD6G-
-
-
-
6Amp-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
0Del-
PARN-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
1Loss-
PARP11-
-
-
-
1Loss-
PARP12-
-
-
-
1Loss-
PARP16-
-
-
-
3Gain-
PARP2-
-
-
-
3Gain-
PARP4-
-
-
-
3Gain-
PARP6-
-
-
-
5Amp-
PARPBP-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PARVA-
-
-
-
1Loss-
PATE1-
-
-
-
3Gain-
PATE2-
-
-
-
3Gain-
PATE3-
-
-
-
3Gain-
PATE4-
-
-
-
3Gain-
PATJ-
-
-
-
3Gain-
PATL1-
-
-
-
3Gain-
PATL2-
-
-
-
3Gain-
PATZ1-
-
-
-
1Loss-
PAWR-
-
-
-
3Gain-
PAX1-
-
-
-
3Gain-
PAX2-
-
-
-
1Loss-
PAX3p.Y354N
Missense
SNP
0.948
1Loss-
PAX4-
-
-
-
1Loss-
PAX5-
-
-
-
3Gain-
PAX6p.M151I
Missense
SNP
0.974
1Loss-
PAX7p.P400Q
Missense
SNP
1.000
1Loss-
PAX8-
-
-
-
1Loss-
PAX9-
-
-
-
15Amp-
PAXBP1-
-
-
-
3Gain-
PAXIP1-
-
-
-
1Loss-
PBK-
-
-
-
3Gain-
PBLD-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBX3-
-
-
-
3Gain-
PBX4-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBP2-
-
-
-
3Gain-
PCBP3-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA12p.G42C
Missense
SNP
1.000
2--
PCDHA5p.K813N
Missense
SNP
1.000
2--
PCDHB10p.Q749L
Missense
SNP
0.991
2--
PCDHB13p.T679Pfs*61
Frame_Shift_Del
DEL
1.000
2--
PCDHB4p.R26L
Missense
SNP
1.000
2--
PCDHB5p.D387Y
Missense
SNP
1.000
2--
PCDHB9p.P650T
Missense
SNP
1.000
2--
PCDHGA3p.T259N
Missense
SNP
0.995
2--
PCED1A-
-
-
-
3Gain-
PCED1B-
-
-
-
3Gain-
PCF11-
-
-
-
3Gain-
PCGF1-
-
-
-
1Loss-
PCGF2p.R94P
Missense
SNP
0.519
3Gain-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCLAF-
-
-
-
3Gain-
PCLOp.G978R
Missense
SNP
0.066
1Loss-
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
5Amp-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNT-
-
-
-
3Gain-
PCNX1-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
3Gain-
PCNX4-
-
-
-
1Loss-
PCOLCE-
-
-
-
1Loss-
PCP2-
-
-
-
3Gain-
PCP4-
-
-
-
3Gain-
PCP4L1-
-
-
-
3Gain-
PCSK2-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCSK7-
-
-
-
3Gain-
PCSK9-
-
-
-
3Gain-
PCTP-
-
-
-
3Gain-
PCYT1A-
-
-
-
0Del-
PCYT2-
-
-
-
3Gain-
PDAP1-
-
-
-
1Loss-
PDC-
-
-
-
1Loss-
PDCD10-
-
-
-
0Del-
PDCD11-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
3Gain-
PDCD2L-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6-
-
-
-
5Amp-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL-
-
-
-
3Gain-
PDCL2-
-
-
-
0Del-
PDCL3-
-
-
-
3Gain-
PDE1A-
-
-
-
1Loss-
PDE1B-
-
-
-
3Gain-
PDE1C-
-
-
-
1Loss-
PDE2A-
-
-
-
3Gain-
PDE3A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
5Amp-
PDE4B-
-
-
-
3Gain-
PDE4C-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE6G-
-
-
-
3Gain-
PDE6H-
-
-
-
1Loss-
PDE7A-
-
-
-
5Amp-
PDE8A-
-
-
-
1Loss-
PDE9A-
-
-
-
3Gain-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFD-
-
-
-
3Gain-
PDGFRAp.Q1043H
Missense
SNP
0.258
2--
PDGFRL-
-
-
-
3Gain-
PDHA2p.A338G
Missense
SNP
0.651
2--
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
3Gain-
PDIA4-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDILT-
-
-
-
1Loss-
PDK2-
-
-
-
3Gain-
PDK4-
-
-
-
1Loss-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
3Gain-
PDLIM3-
-
-
-
1Loss-
PDP1-
-
-
-
6Amp-
PDP2-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDPRp.X76_splice
Splice_Site
SNP
1.000
1Loss-
PDRG1-
-
-
-
1Loss-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDXDC1-
-
-
-
1Loss-
PDXK-
-
-
-
3Gain-
PDXP-
-
-
-
1Loss-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
5Amp-
PDZD3-
-
-
-
3Gain-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PDZRN4p.S977R
Missense
SNP
0.593
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PEBP4-
-
-
-
3Gain-
PECAM1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PEF1-
-
-
-
1Loss-
PEG10-
-
-
-
1Loss-
PEG3p.D1426Y
Missense
SNP
0.500
1Loss-
PELI2-
-
-
-
1Loss-
PELI3-
-
-
-
3Gain-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
3Gain-
PENK-
-
-
-
5Amp-
PEPD-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PERM1-
-
-
-
3Gain-
PES1-
-
-
-
1Loss-
PET100-
-
-
-
3Gain-
PET117-
-
-
-
3Gain-
PEX1-
-
-
-
1Loss-
PEX10-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX11G-
-
-
-
3Gain-
PEX12-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
5Amp-
PEX26-
-
-
-
3Gain-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
0Del-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKFB2-
-
-
-
1Loss-
PFKFB3-
-
-
-
3Gain-
PFKL-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PFN1-
-
-
-
1Loss-
PGA3-
-
-
-
3Gain-
PGA4-
-
-
-
3Gain-
PGA5-
-
-
-
3Gain-
PGAM1-
-
-
-
1Loss-
PGAM2-
-
-
-
1Loss-
PGAM5-
-
-
-
3Gain-
PGAP1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
3Gain-
PGBD2-
-
-
-
5Amp-
PGBD4-
-
-
-
1Loss-
PGBD5-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
3Gain-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGM2L1-
-
-
-
3Gain-
PGM5-
-
-
-
3Gain-
PGPEP1-
-
-
-
3Gain-
PGPEP1L-
-
-
-
1Loss-
PGR-
-
-
-
3Gain-
PGS1-
-
-
-
3Gain-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
1Loss-
PHB-
-
-
-
3Gain-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC3-
-
-
-
0Del-
PHETA1-
-
-
-
3Gain-
PHF11-
-
-
-
1Loss-
PHF12-
-
-
-
3Gain-
PHF13-
-
-
-
3Gain-
PHF14-
-
-
-
1Loss-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21A-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHGDH-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHIPp.P355L
Missense
SNP
0.987
2--
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
1Loss-
PHKG2-
-
-
-
1Loss-
PHLDA1-
-
-
-
3Gain-
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
1Loss-
PHLDB1-
-
-
-
3Gain-
PHLDB3-
-
-
-
1Loss-
PHLPP1-
-
-
-
6Amp-
PHLPP2-
-
-
-
1Loss-
PHOSPHO1-
-
-
-
3Gain-
PHOX2A-
-
-
-
3Gain-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHTF2-
-
-
-
1Loss-
PHYH-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PHYHIP-
-
-
-
3Gain-
PHYHIPL-
-
-
-
1Loss-
PI15-
-
-
-
5Amp-
PI3-
-
-
-
3Gain-
PI4K2A-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS1-
-
-
-
3Gain-
PIAS2-
-
-
-
6Amp-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PICALM-
-
-
-
3Gain-
PICK1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2p.V724L
Missense
SNP
1.000
1Loss-
PIF1p.P247L
Missense
SNP
0.455
3Gain-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGH-
-
-
-
1Loss-
PIGK-
-
-
-
3Gain-
PIGL-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
6Amp-
PIGO-
-
-
-
3Gain-
PIGP-
-
-
-
3Gain-
PIGR-
-
-
-
1Loss-
PIGS-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGV-
-
-
-
1Loss-
PIGW-
-
-
-
3Gain-
PIGX-
-
-
-
0Del-
PIGZ-
-
-
-
0Del-
PIH1D1-
-
-
-
1Loss-
PIH1D2-
-
-
-
3Gain-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C2B-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
6Amp-
PIK3CA-
-
-
-
0Del-
PIK3CG-
-
-
-
1Loss-
PIK3IP1-
-
-
-
1Loss-
PIK3R2-
-
-
-
3Gain-
PIK3R3-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
1Loss-
PILRA-
-
-
-
1Loss-
PILRB-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
5Amp-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
3Gain-
PIP-
-
-
-
1Loss-
PIP4K2A-
-
-
-
3Gain-
PIP4K2B-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PIP4P1-
-
-
-
3Gain-
PIP4P2-
-
-
-
6Amp-
PIP5K1A-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PIP5KL1-
-
-
-
3Gain-
PIPOX-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM1-
-
-
-
3Gain-
PITPNM2p.L237M
Missense
SNP
0.600
3Gain-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
3Gain-
PITX2p.S210R
Missense
SNP
0.617
2--
PITX3-
-
-
-
1Loss-
PIWIL1-
-
-
-
3Gain-
PIWIL2-
-
-
-
3Gain-
PIWIL3-
-
-
-
1Loss-
PIWIL4-
-
-
-
3Gain-
PKD1L1-
-
-
-
1Loss-
PKD1L2p.S142*
Nonsense
SNP
1.000
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKHD1L1-
-
-
-
4Gain-
PKIA-
-
-
-
6Amp-
PKIG-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
5Amp-
PKN1-
-
-
-
3Gain-
PKN2-
-
-
-
3Gain-
PKN3-
-
-
-
3Gain-
PKNOX1-
-
-
-
3Gain-
PKNOX2-
-
-
-
3Gain-
PKP1-
-
-
-
1Loss-
PKP2p.P623Rfs*17
Frame_Shift_Del
DEL
0.970
2--
PKP3-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA2G10-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G16-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4C-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLA2R1p.Q131L
Missense
SNP
0.995
1Loss-
PLAA-
-
-
-
3Gain-
PLAC9-
-
-
-
1Loss-
PLAG1-
-
-
-
5Amp-
PLAGL2-
-
-
-
1Loss-
PLAT-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
3Gain-
PLCB1-
-
-
-
3Gain-
PLCB2-
-
-
-
1Loss-
PLCB3-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCD3-
-
-
-
3Gain-
PLCD4-
-
-
-
1Loss-
PLCE1-
-
-
-
1Loss-
PLCG1-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLCH2-
-
-
-
3Gain-
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD3-
-
-
-
5Amp-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
0Del-
PLD2-
-
-
-
1Loss-
PLD3-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
3Gain-
PLEC-
-
-
-
1Loss-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA3p.S32T
Missense
SNP
1.000
2--
PLEKHA4-
-
-
-
1Loss-
PLEKHA5-
-
-
-
1Loss-
PLEKHA6-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
1Loss-
PLEKHB1-
-
-
-
3Gain-
PLEKHB2-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
6Amp-
PLEKHG2-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
1Loss-
PLEKHG5-
-
-
-
3Gain-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
3Gain-
PLEKHH1-
-
-
-
1Loss-
PLEKHH2p.S639*
Nonsense
SNP
1.000
2--
PLEKHH3-
-
-
-
3Gain-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM1-
-
-
-
3Gain-
PLEKHM2-
-
-
-
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLEKHN1-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
3Gain-
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLIN3-
-
-
-
3Gain-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLK3-
-
-
-
3Gain-
PLK5-
-
-
-
1Loss-
PLLP-
-
-
-
3Gain-
PLOD1-
-
-
-
1Loss-
PLOD3-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP3-
-
-
-
3Gain-
PLPP4-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLPPR2-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLPPR4p.I60M
Missense
SNP
0.338
2--
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLVAP-
-
-
-
3Gain-
PLXDC1-
-
-
-
3Gain-
PLXDC2-
-
-
-
3Gain-
PLXNA2-
-
-
-
1Loss-
PLXNA4-
-
-
-
1Loss-
PLXNC1-
-
-
-
3Gain-
PLXND1p.R975C
Missense
SNP
0.333
2--
PM20D1-
-
-
-
1Loss-
PMAIP1-
-
-
-
6Amp-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMEPA1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PML-
-
-
-
1Loss-
PMM2-
-
-
-
1Loss-
PMP2-
-
-
-
6Amp-
PMP22-
-
-
-
3Gain-
PMPCB-
-
-
-
1Loss-
PMS1-
-
-
-
1Loss-
PMS2-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNKD-
-
-
-
1Loss-
PNKP-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
3Gain-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNMTp.G3V
Missense
SNP
0.086
3Gain-
PNN-
-
-
-
10Amp-
PNOC-
-
-
-
3Gain-
PNP-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
3Gain-
PNPLA8-
-
-
-
1Loss-
PNPO-
-
-
-
3Gain-
PNRC2-
-
-
-
1Loss-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODN-
-
-
-
3Gain-
PODNL1-
-
-
-
3Gain-
PODXL-
-
-
-
1Loss-
POFUT1-
-
-
-
1Loss-
POFUT2-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD1-
-
-
-
1Loss-
POLD2-
-
-
-
1Loss-
POLD3-
-
-
-
3Gain-
POLD4-
-
-
-
3Gain-
POLDIP2-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLE2-
-
-
-
1Loss-
POLE3-
-
-
-
3Gain-
POLE4-
-
-
-
1Loss-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
6Amp-
POLL-
-
-
-
1Loss-
POLM-
-
-
-
1Loss-
POLR1A-
-
-
-
1Loss-
POLR1Bp.I1145M
Missense
SNP
0.414
1Loss-
POLR1D-
-
-
-
3Gain-
POLR1E-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
0Del-
POLR2C-
-
-
-
3Gain-
POLR2D-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2G-
-
-
-
3Gain-
POLR2H-
-
-
-
0Del-
POLR2I-
-
-
-
1Loss-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR2K-
-
-
-
4Gain-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
3Gain-
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3E-
-
-
-
1Loss-
POLR3F-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
1Loss-
POM121C-
-
-
-
1Loss-
POM121L12-
-
-
-
1Loss-
POMGNT1-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POMT1p.V256D
Missense
SNP
0.593
2--
POMT2-
-
-
-
1Loss-
POMZP3-
-
-
-
1Loss-
PON1-
-
-
-
1Loss-
PON2-
-
-
-
1Loss-
PON3-
-
-
-
1Loss-
POP1-
-
-
-
6Amp-
POP4-
-
-
-
1Loss-
POP5-
-
-
-
3Gain-
POP7-
-
-
-
1Loss-
POR-
-
-
-
1Loss-
POSTN-
-
-
-
3Gain-
POT1-
-
-
-
1Loss-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POTED-
-
-
-
3Gain-
POTEE-
-
-
-
1Loss-
POTEF-
-
-
-
1Loss-
POTEG-
-
-
-
3Gain-
POTEH-
-
-
-
3Gain-
POTEI-
-
-
-
1Loss-
POTEJ-
-
-
-
1Loss-
POTEM-
-
-
-
3Gain-
POU1F1-
-
-
-
1Loss-
POU2AF1-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
POU2F2-
-
-
-
1Loss-
POU2F3p.F422L
Missense
SNP
0.149
3Gain-
POU3F1-
-
-
-
3Gain-
POU3F3-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU4F2p.F340S
Missense
SNP
0.678
2--
POU5F1B-
-
-
-
4Gain-
POU6F1-
-
-
-
3Gain-
POU6F2-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPAN-
-
-
-
5Amp-
PPAN-P2RY11-
-
-
-
5Amp-
PPARG-
-
-
-
5Amp-
PPAT-
-
-
-
0Del-
PPCDC-
-
-
-
1Loss-
PPCS-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
5Amp-
PPFIA1-
-
-
-
3Gain-
PPFIA2p.D362Y
Missense
SNP
0.433
3Gain-
PPFIA3-
-
-
-
1Loss-
PPFIA4-
-
-
-
1Loss-
PPFIBP1-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPHLN1-
-
-
-
3Gain-
PPIA-
-
-
-
1Loss-
PPIAL4D-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIE-
-
-
-
3Gain-
PPIF-
-
-
-
1Loss-
PPIH-
-
-
-
3Gain-
PPIL2-
-
-
-
3Gain-
PPIL3-
-
-
-
1Loss-
PPIP5K1-
-
-
-
3Gain-
PPL-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1F-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPM1J-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPME1-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R12B-
-
-
-
1Loss-
PPP1R12C-
-
-
-
1Loss-
PPP1R13B-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R14B-
-
-
-
3Gain-
PPP1R14D-
-
-
-
1Loss-
PPP1R15A-
-
-
-
1Loss-
PPP1R15B-
-
-
-
1Loss-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
1Loss-
PPP1R1A-
-
-
-
3Gain-
PPP1R1B-
-
-
-
3Gain-
PPP1R1C-
-
-
-
1Loss-
PPP1R2-
-
-
-
0Del-
PPP1R27-
-
-
-
3Gain-
PPP1R32-
-
-
-
3Gain-
PPP1R35-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3A-
-
-
-
1Loss-
PPP1R3B-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
3Gain-
PPP1R42-
-
-
-
5Amp-
PPP1R8-
-
-
-
1Loss-
PPP1R9A-
-
-
-
1Loss-
PPP1R9B-
-
-
-
3Gain-
PPP2CB-
-
-
-
3Gain-
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
3Gain-
PPP2R2A-
-
-
-
3Gain-
PPP2R2D-
-
-
-
1Loss-
PPP2R3C-
-
-
-
6Amp-
PPP2R5A-
-
-
-
1Loss-
PPP2R5B-
-
-
-
3Gain-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3CC-
-
-
-
3Gain-
PPP3R2-
-
-
-
3Gain-
PPP4C-
-
-
-
1Loss-
PPP4R1-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6C-
-
-
-
3Gain-
PPP6R1-
-
-
-
1Loss-
PPP6R3-
-
-
-
3Gain-
PPRC1-
-
-
-
1Loss-
PPT1-
-
-
-
3Gain-
PPTC7-
-
-
-
3Gain-
PPY-
-
-
-
3Gain-
PQLC1-
-
-
-
6Amp-
PQLC2-
-
-
-
1Loss-
PRAC1-
-
-
-
3Gain-
PRAC2-
-
-
-
3Gain-
PRAG1-
-
-
-
3Gain-
PRAM1-
-
-
-
5Amp-
PRAME-
-
-
-
3Gain-
PRAMEF1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2p.Q292H
Missense
SNP
1.000
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF26-
-
-
-
1Loss-
PRAMEF4-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF7-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRCD-
-
-
-
3Gain-
PRCP-
-
-
-
3Gain-
PRDM10-
-
-
-
3Gain-
PRDM11-
-
-
-
1Loss-
PRDM14-
-
-
-
5Amp-
PRDM15-
-
-
-
3Gain-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
3Gain-
PRDM7-
-
-
-
1Loss-
PRDM9-
-
-
-
5Amp-
PRDX1-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELID3A-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PRELP-
-
-
-
1Loss-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
5Amp-
PRF1-
-
-
-
1Loss-
PRG2-
-
-
-
3Gain-
PRG3-
-
-
-
3Gain-
PRG4-
-
-
-
5Amp-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE1-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRIM1-
-
-
-
3Gain-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
5Amp-
PRKAA2-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKACA-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKAG2-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR1A-
-
-
-
3Gain-
PRKAR1B-
-
-
-
1Loss-
PRKAR2B-
-
-
-
1Loss-
PRKCA-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCI-
-
-
-
0Del-
PRKCQ-
-
-
-
3Gain-
PRKCSH-
-
-
-
3Gain-
PRKCZ-
-
-
-
3Gain-
PRKD1-
-
-
-
11Amp-
PRKD2-
-
-
-
1Loss-
PRKDC-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKRIP1-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
5Amp-
PRM1-
-
-
-
1Loss-
PRM2-
-
-
-
1Loss-
PRM3-
-
-
-
1Loss-
PRMT1-
-
-
-
1Loss-
PRMT2-
-
-
-
3Gain-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
3Gain-
PRMT6-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT8-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROC-
-
-
-
1Loss-
PROCA1-
-
-
-
3Gain-
PROCR-
-
-
-
3Gain-
PRODH-
-
-
-
3Gain-
PRODH2-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROM2-
-
-
-
1Loss-
PROSER1-
-
-
-
3Gain-
PROSER2-
-
-
-
3Gain-
PROSER3-
-
-
-
1Loss-
PROX1-
-
-
-
1Loss-
PROX2-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF18-
-
-
-
3Gain-
PRPF19-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF31-
-
-
-
1Loss-
PRPF38A-
-
-
-
3Gain-
PRPF38B-
-
-
-
1Loss-
PRPF39-
-
-
-
8Amp-
PRPF4-
-
-
-
3Gain-
PRPF40A-
-
-
-
1Loss-
PRPF40B-
-
-
-
3Gain-
PRPF4Bp.D260Y
Missense
SNP
1.000
2--
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
3Gain-
PRPS1L1-
-
-
-
1Loss-
PRPSAP1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
3Gain-
PRR11-
-
-
-
3Gain-
PRR12-
-
-
-
1Loss-
PRR13-
-
-
-
3Gain-
PRR14-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
1Loss-
PRR15L-
-
-
-
3Gain-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR26-
-
-
-
3Gain-
PRR29-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
3Gain-
PRR4-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRG2-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRRT3-
-
-
-
3Gain-
PRRT4-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRRX2-
-
-
-
3Gain-
PRSS1-
-
-
-
1Loss-
PRSS2-
-
-
-
1Loss-
PRSS23-
-
-
-
3Gain-
PRSS3-
-
-
-
3Gain-
PRSS36-
-
-
-
1Loss-
PRSS37-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS54-
-
-
-
3Gain-
PRSS55-
-
-
-
3Gain-
PRSS57-
-
-
-
3Gain-
PRSS58-
-
-
-
1Loss-
PRSS8-
-
-
-
1Loss-
PRTFDC1-
-
-
-
3Gain-
PRTG-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRX-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2B-
-
-
-
3Gain-
PRXL2C-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSAT1-
-
-
-
3Gain-
PSCA-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD3-
-
-
-
3Gain-
PSD4-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSENEN-
-
-
-
1Loss-
PSG1p.T139N
Missense
SNP
1.000
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
3Gain-
PSKH1-
-
-
-
1Loss-
PSKH2-
-
-
-
6Amp-
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
1Loss-
PSMA3-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA6-
-
-
-
6Amp-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
6Amp-
PSMB10-
-
-
-
1Loss-
PSMB11-
-
-
-
3Gain-
PSMB3-
-
-
-
3Gain-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC3IP-
-
-
-
3Gain-
PSMC4-
-
-
-
1Loss-
PSMC5-
-
-
-
3Gain-
PSMC6-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSMD11-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD14-
-
-
-
1Loss-
PSMD2-
-
-
-
0Del-
PSMD3-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD5-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSMD9-
-
-
-
3Gain-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSME3-
-
-
-
3Gain-
PSMF1-
-
-
-
3Gain-
PSMG1-
-
-
-
3Gain-
PSMG2-
-
-
-
1Loss-
PSMG3-
-
-
-
1Loss-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
1Loss-
PSPN-
-
-
-
3Gain-
PSRC1-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
6Amp-
PTAFR-
-
-
-
1Loss-
PTAR1-
-
-
-
3Gain-
PTBP1p.Q391H
Missense
SNP
0.972
1Loss-
PTBP3-
-
-
-
3Gain-
PTCD1-
-
-
-
1Loss-
PTCD3-
-
-
-
1Loss-
PTCH1-
-
-
-
3Gain-
PTCH2-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTDSS1p.W174L
Missense
SNP
1.000
6Amp-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGDR-
-
-
-
1Loss-
PTGDR2-
-
-
-
3Gain-
PTGER1-
-
-
-
3Gain-
PTGER2-
-
-
-
1Loss-
PTGER3-
-
-
-
3Gain-
PTGER4-
-
-
-
5Amp-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGES3-
-
-
-
3Gain-
PTGES3L-
-
-
-
3Gain-
PTGES3L-AARSD1-
-
-
-
3Gain-
PTGFR-
-
-
-
3Gain-
PTGFRN-
-
-
-
1Loss-
PTGIR-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTGR1-
-
-
-
3Gain-
PTGR2-
-
-
-
1Loss-
PTGS1-
-
-
-
3Gain-
PTGS2-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTH2-
-
-
-
1Loss-
PTH2Rp.P131T
Missense
SNP
0.108
1Loss-
PTHLH-
-
-
-
3Gain-
PTK2-
-
-
-
1Loss-
PTK2B-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTMS-
-
-
-
1Loss-
PTN-
-
-
-
1Loss-
PTOV1-
-
-
-
1Loss-
PTP4A2-
-
-
-
1Loss-
PTP4A3-
-
-
-
1Loss-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN12-
-
-
-
1Loss-
PTPN14-
-
-
-
1Loss-
PTPN18-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN4-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPN6-
-
-
-
1Loss-
PTPN7-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRC-
-
-
-
1Loss-
PTPRCAP-
-
-
-
3Gain-
PTPRDp.T1455K
Missense
SNP
0.546
3Gain-
PTPRE-
-
-
-
1Loss-
PTPRF-
-
-
-
3Gain-
PTPRGp.W326*
Nonsense
SNP
1.000
1Loss-
PTPRH-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRN2p.W96C
Missense
SNP
1.000
1Loss-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRS-
-
-
-
3Gain-
PTPRTp.N133Mfs*11
Frame_Shift_Del
DEL
0.400
3Gain-
PTPRU-
-
-
-
1Loss-
PTPRZ1p.S490T
Missense
SNP
1.000
1Loss-
PTRH1-
-
-
-
3Gain-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
3Gain-
PTTG1IP-
-
-
-
3Gain-
PTTG2-
-
-
-
1Loss-
PUF60-
-
-
-
1Loss-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
3Gain-
PURB-
-
-
-
1Loss-
PURG-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS3-
-
-
-
3Gain-
PUS7-
-
-
-
1Loss-
PUS7L-
-
-
-
3Gain-
PUSL1-
-
-
-
3Gain-
PVALB-
-
-
-
1Loss-
PVALEF-
-
-
-
3Gain-
PVR-
-
-
-
1Loss-
PVRIG-
-
-
-
1Loss-
PWP1-
-
-
-
3Gain-
PWP2-
-
-
-
3Gain-
PWWP2B-
-
-
-
1Loss-
PXDN-
-
-
-
1Loss-
PXDNL-
-
-
-
5Amp-
PXK-
-
-
-
1Loss-
PXMP2-
-
-
-
3Gain-
PXMP4-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYCARD-
-
-
-
1Loss-
PYCR1-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
1Loss-
PYDC1-
-
-
-
1Loss-
PYDC2-
-
-
-
0Del-
PYGB-
-
-
-
3Gain-
PYGL-
-
-
-
1Loss-
PYGM-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PYROXD2-
-
-
-
1Loss-
PYY-
-
-
-
3Gain-
PZP-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QPRT-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSER1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
QTRT1-
-
-
-
5Amp-
R3HCC1-
-
-
-
3Gain-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
1Loss-
R3HDM2-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB11A-
-
-
-
3Gain-
RAB11B-
-
-
-
5Amp-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
3Gain-
RAB12-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB14-
-
-
-
3Gain-
RAB15-
-
-
-
1Loss-
RAB18-
-
-
-
3Gain-
RAB19-
-
-
-
1Loss-
RAB1B-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB21-
-
-
-
3Gain-
RAB22A-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB27B-
-
-
-
6Amp-
RAB29-
-
-
-
1Loss-
RAB2A-
-
-
-
5Amp-
RAB2B-
-
-
-
3Gain-
RAB30-
-
-
-
3Gain-
RAB31-
-
-
-
1Loss-
RAB34-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB37-
-
-
-
3Gain-
RAB38-
-
-
-
3Gain-
RAB39A-
-
-
-
3Gain-
RAB3A-
-
-
-
3Gain-
RAB3B-
-
-
-
3Gain-
RAB3D-
-
-
-
3Gain-
RAB3GAP1-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
1Loss-
RAB3IL1-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB40B-
-
-
-
3Gain-
RAB42-
-
-
-
1Loss-
RAB4A-
-
-
-
3Gain-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RAB5B-
-
-
-
3Gain-
RAB5C-
-
-
-
3Gain-
RAB5IF-
-
-
-
3Gain-
RAB6A-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RAB8A-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABAC1-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
1Loss-
RABGGTA-
-
-
-
1Loss-
RABGGTB-
-
-
-
3Gain-
RABIF-
-
-
-
1Loss-
RABL2A-
-
-
-
1Loss-
RAC1-
-
-
-
1Loss-
RAC2-
-
-
-
1Loss-
RAC3-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RAD1-
-
-
-
5Amp-
RAD18-
-
-
-
3Gain-
RAD21-
-
-
-
4Gain-
RAD21L1-
-
-
-
3Gain-
RAD23A-
-
-
-
1Loss-
RAD23B-
-
-
-
3Gain-
RAD51-
-
-
-
1Loss-
RAD51AP1-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD51D-
-
-
-
3Gain-
RAD51L3-RFFL-
-
-
-
3Gain-
RAD52-
-
-
-
1Loss-
RAD54B-
-
-
-
6Amp-
RAD54L-
-
-
-
3Gain-
RAD9A-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RADIL-
-
-
-
1Loss-
RAE1-
-
-
-
3Gain-
RAF1-
-
-
-
3Gain-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1-
-
-
-
3Gain-
RAI14-
-
-
-
5Amp-
RALA-
-
-
-
1Loss-
RALB-
-
-
-
1Loss-
RALBP1-
-
-
-
1Loss-
RALGAPA1-
-
-
-
6Amp-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
6Amp-
RAMAC-
-
-
-
1Loss-
RAMP2-
-
-
-
3Gain-
RAMP3-
-
-
-
1Loss-
RAN-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP2-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP3L-
-
-
-
5Amp-
RANBP6-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
3Gain-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPGEF3-
-
-
-
3Gain-
RAPGEF5-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
3Gain-
RAPH1-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RARA-
-
-
-
3Gain-
RARB-
-
-
-
1Loss-
RARG-
-
-
-
3Gain-
RARRES2-
-
-
-
1Loss-
RARRES3-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL1-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASAL3-
-
-
-
3Gain-
RASD1-
-
-
-
3Gain-
RASD2-
-
-
-
1Loss-
RASEF-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP2-
-
-
-
3Gain-
RASGRP4-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL10B-
-
-
-
3Gain-
RASL11A-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF10-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RAVER1-
-
-
-
5Amp-
RAVER2-
-
-
-
3Gain-
RAX-
-
-
-
6Amp-
RAX2-
-
-
-
1Loss-
RB1-
-
-
-
3Gain-
RB1CC1-
-
-
-
5Amp-
RBAK-
-
-
-
1Loss-
RBAK-RBAKDN-
-
-
-
1Loss-
RBBP5-
-
-
-
1Loss-
RBBP6p.T1423S
Missense
SNP
1.000
1Loss-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
6Amp-
RBFOX1-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBFOX3-
-
-
-
3Gain-
RBL1-
-
-
-
3Gain-
RBL2-
-
-
-
3Gain-
RBM11p.S88N
Missense
SNP
0.434
3Gain-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
6Amp-
RBM14-
-
-
-
3Gain-
RBM14-RBM4-
-
-
-
3Gain-
RBM15-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM20-
-
-
-
1Loss-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM28-
-
-
-
1Loss-
RBM33-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM4-
-
-
-
3Gain-
RBM42-
-
-
-
1Loss-
RBM43-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM48-
-
-
-
1Loss-
RBM4B-
-
-
-
3Gain-
RBM7-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBMS1-
-
-
-
1Loss-
RBMS2-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
3Gain-
RBPMS2-
-
-
-
3Gain-
RBSN-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RC3H2-
-
-
-
3Gain-
RCAN1-
-
-
-
3Gain-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC1L-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCE1-
-
-
-
3Gain-
RCL1-
-
-
-
3Gain-
RCN1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCOR2-
-
-
-
3Gain-
RCOR3-
-
-
-
1Loss-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH10-
-
-
-
5Amp-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH13-
-
-
-
1Loss-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RDH8-
-
-
-
5Amp-
RDM1-
-
-
-
3Gain-
RDX-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RECQL5-
-
-
-
3Gain-
REEP1-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
3Gain-
REEP6-
-
-
-
1Loss-
REG1A-
-
-
-
1Loss-
REG1B-
-
-
-
1Loss-
REG3A-
-
-
-
1Loss-
REG3G-
-
-
-
1Loss-
REG4-
-
-
-
1Loss-
RELA-
-
-
-
3Gain-
RELB-
-
-
-
1Loss-
RELCH-
-
-
-
6Amp-
RELL1-
-
-
-
1Loss-
RELN-
-
-
-
1Loss-
RELT-
-
-
-
3Gain-
REM1-
-
-
-
1Loss-
REM2-
-
-
-
3Gain-
REN-
-
-
-
1Loss-
REP15-
-
-
-
3Gain-
REPIN1-
-
-
-
1Loss-
RER1-
-
-
-
3Gain-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
REST-
-
-
-
0Del-
RET-
-
-
-
1Loss-
RETN-
-
-
-
3Gain-
RETREG1-
-
-
-
5Amp-
RETREG2-
-
-
-
1Loss-
RETREG3-
-
-
-
3Gain-
RETSAT-
-
-
-
1Loss-
REV1-
-
-
-
3Gain-
REX1BD-
-
-
-
3Gain-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
3Gain-
REXO5-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFC2-
-
-
-
1Loss-
RFC3-
-
-
-
3Gain-
RFC4-
-
-
-
0Del-
RFC5-
-
-
-
3Gain-
RFFL-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
3Gain-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFPL4A-
-
-
-
1Loss-
RFPL4AL1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX1-
-
-
-
3Gain-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
3Gain-
RFX4-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RFX8-
-
-
-
3Gain-
RFXANK-
-
-
-
3Gain-
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGL3-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGP1-
-
-
-
3Gain-
RGR-
-
-
-
1Loss-
RGS1-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS13-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
1Loss-
RGS20-
-
-
-
5Amp-
RGS21-
-
-
-
1Loss-
RGS22p.L440I
Missense
SNP
0.404
4Gain-
RGS3-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9-
-
-
-
3Gain-
RGS9BP-
-
-
-
1Loss-
RGSL1-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHBDD2-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHBDF2-
-
-
-
3Gain-
RHBDL2-
-
-
-
3Gain-
RHBDL3-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEB-
-
-
-
1Loss-
RHEBL1-
-
-
-
3Gain-
RHEX-
-
-
-
1Loss-
RHNO1-
-
-
-
1Loss-
RHOBTB1p.C628W
Missense
SNP
0.985
1Loss-
RHOBTB2-
-
-
-
3Gain-
RHOC-
-
-
-
1Loss-
RHOD-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOT1-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
1Loss-
RHPN2-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIC8B-
-
-
-
3Gain-
RICTOR-
-
-
-
5Amp-
RIDA-
-
-
-
6Amp-
RIF1-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLA-
-
-
-
3Gain-
RIMKLB-
-
-
-
1Loss-
RIMS2p.G580R
Missense
SNP
0.998
4Gain-
RIMS3-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN1-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RIN3-
-
-
-
1Loss-
RINL-
-
-
-
1Loss-
RINT1-
-
-
-
1Loss-
RIOK3-
-
-
-
6Amp-
RIOX1-
-
-
-
1Loss-
RIPK2-
-
-
-
8Amp-
RIPK3-
-
-
-
1Loss-
RIPK4-
-
-
-
3Gain-
RIPOR1-
-
-
-
1Loss-
RIPOR3-
-
-
-
3Gain-
RIPPLY3-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
6Amp-
RITA1-
-
-
-
3Gain-
RLF-
-
-
-
3Gain-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RLN3-
-
-
-
3Gain-
RMC1-
-
-
-
6Amp-
RMDN1-
-
-
-
6Amp-
RMDN3-
-
-
-
1Loss-
RMI1-
-
-
-
3Gain-
RMI2-
-
-
-
1Loss-
RMND5A-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--MYO6
RNA5-8SN2--UBE2E3
RPS27A--RNA5-8SN2
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11p.G88*
Nonsense
SNP
0.500
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEH1-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNASEH2C-
-
-
-
3Gain-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RND1-
-
-
-
3Gain-
RND2-
-
-
-
3Gain-
RND3-
-
-
-
1Loss-
RNF10-
-
-
-
3Gain-
RNF103-
-
-
-
1Loss-
RNF103-CHMP3-
-
-
-
1Loss-
RNF11-
-
-
-
3Gain-
RNF111-
-
-
-
3Gain-
RNF112-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
3Gain-
RNF122-
-
-
-
3Gain-
RNF125-
-
-
-
6Amp-
RNF126-
-
-
-
3Gain-
RNF133-
-
-
-
1Loss-
RNF135-
-
-
-
3Gain-
RNF138-
-
-
-
6Amp-
RNF139-
-
-
-
4Gain-
RNF141-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF149-
-
-
-
3Gain-
RNF152-
-
-
-
6Amp-
RNF157-
-
-
-
3Gain-
RNF165-
-
-
-
6Amp-
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
0Del-
RNF169-
-
-
-
3Gain-
RNF17-
-
-
-
3Gain-
RNF170-
-
-
-
1Loss-
RNF181-
-
-
-
1Loss-
RNF183-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
4Gain-
RNF2-
-
-
-
3Gain-
RNF20-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF212B-
-
-
-
3Gain-
RNF213-
-
-
-
3Gain-
RNF214-
-
-
-
3Gain-
RNF215-
-
-
-
1Loss-
RNF216-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF225-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF25-
-
-
-
1Loss-
RNF26-
-
-
-
3Gain-
RNF31-
-
-
-
1Loss-
RNF32-
-
-
-
1Loss-
RNF34-
-
-
-
3Gain-
RNF38-
-
-
-
3Gain-
RNF40-
-
-
-
1Loss-
RNF41-
-
-
-
3Gain-
RNF43-
-
-
-
3Gain-
RNF6-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNMT-
-
-
-
3Gain-
RNPEP-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROBO3-
-
-
-
3Gain-
ROBO4-
-
-
-
3Gain-
ROCK1-
-
-
-
3Gain-
ROGDI-
-
-
-
1Loss-
ROM1-
-
-
-
3Gain-
ROMO1-
-
-
-
3Gain-
ROPN1L-
-
-
-
5Amp-
ROR1-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
RORCp.E269Q
Missense
SNP
0.497
3Gain-
RP1-
-
-
-
5Amp-
RP11-766F14.2p.P1218A
Missense
SNP
0.575
NDND-
RP1L1-
-
-
-
3Gain-
RP9-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPAP3-
-
-
-
3Gain-
RPE-
-
-
-
1Loss-
RPE65-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
3Gain-
RPGRIP1-
-
-
-
3Gain-
RPGRIP1L-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPH3AL-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL10L-
-
-
-
5Amp-
RPL11-
-
-
-
1Loss-
RPL12-
-
-
-
3Gain-
RPL13-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
6Amp-
RPL17-C18orf32-
-
-
-
6Amp-
RPL18-
-
-
-
1Loss-
RPL18A-
-
-
-
3Gain-
RPL19-
-
-
-
3Gain-
RPL21-
-
-
-
3Gain-
RPL22-
-
-
-
3Gain-
RPL22L1-
-
-
-
0Del-
RPL23-
-
-
-
3Gain-
RPL23A-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL27-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
6Amp-
RPL31-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL35-
-
-
-
3Gain-
RPL35A-
-
-
-
0Del-
RPL37-
-
-
-
5Amp-
RPL37A-
-
-
-
1Loss-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
0Del-
RPL4-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL7-
-
-
-
5Amp-
RPL9-
-
-
-
1Loss-
RPLP0-
-
-
-
3Gain-
RPLP1-
-
-
-
3Gain-
RPLP2-
-
-
-
1Loss-
RPN2-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
6Amp-
RPRD1B-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPRM-
-
-
-
1Loss-
RPRML-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS15A-
-
-
-
1Loss-
RPS16-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS20-
-
-
-
5Amp-
RPS21-
-
-
-
3Gain-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS27A-
-
-
-
2-RPS27A--RNA5-8SN2
RPS27L-
-
-
-
3Gain-
RPS28-
-
-
-
5Amp-
RPS29-
-
-
-
1Loss-
RPS3-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6-
-
-
-
3Gain-
RPS6KA1-
-
-
-
1Loss-
RPS6KA4-
-
-
-
3Gain-
RPS6KA5-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPS6KB2-
-
-
-
3Gain-
RPS6KC1-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPS7-
-
-
-
1Loss-
RPS8-
-
-
-
3Gain-
RPS9-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPTOR-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RPUSD3-
-
-
-
3Gain-
RPUSD4-
-
-
-
3Gain-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
3Gain-
RRAGC-
-
-
-
3Gain-
RRAS-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RRM1-
-
-
-
1Loss-
RRM2B-
-
-
-
4Gain-
RRN3-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP1-
-
-
-
3Gain-
RRP12-
-
-
-
1Loss-
RRP15-
-
-
-
1Loss-
RRP1B-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RRS1-
-
-
-
5Amp-
RSAD1-
-
-
-
3Gain-
RSBN1-
-
-
-
1Loss-
RSBN1L-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSF1-
-
-
-
3Gain-
RSL1D1-
-
-
-
1Loss-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
3Gain-
RSPH10B-
-
-
-
1Loss-
RSPH10B2-
-
-
-
1Loss-
RSPH6A-
-
-
-
1Loss-
RSPO1-
-
-
-
3Gain-
RSPO2-
-
-
-
4Gain-
RSPO4-
-
-
-
3Gain-
RSPRY1-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RSRP1-
-
-
-
1Loss-
RSU1-
-
-
-
3Gain-
RTCB-
-
-
-
1Loss-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
1Loss-
RTF2-
-
-
-
3Gain-
RTKN-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
3Gain-
RTN1-
-
-
-
1Loss-
RTN2-
-
-
-
1Loss-
RTN3-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2-
-
-
-
3Gain-
RTP1-
-
-
-
0Del-
RTP2-
-
-
-
0Del-
RTP4-
-
-
-
0Del-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
6Amp-
RUBCN-
-
-
-
0Del-
RUBCNL-
-
-
-
3Gain-
RUFY2-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNDC1-
-
-
-
3Gain-
RUNDC3A-
-
-
-
3Gain-
RUNDC3B-
-
-
-
1Loss-
RUNX1-
-
-
-
3Gain-
RUNX1T1-
-
-
-
6Amp-
RUNX3-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
3Gain-
RUVBL2-
-
-
-
1Loss-
RWDD2B-
-
-
-
3Gain-
RWDD4-
-
-
-
1Loss-
RXFP2-
-
-
-
3Gain-
RXFP3-
-
-
-
5Amp-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYR1-
-
-
-
1Loss-
RYR2-
-
-
-
3Gain-
RYR3-
-
-
-
1Loss-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S1PR2-
-
-
-
5Amp-
S1PR3-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
5Amp-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAC3D1-
-
-
-
3Gain-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
3Gain-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
3Gain-
SAFB2-
-
-
-
3Gain-
SALL1p.A438G
Missense
SNP
1.000
1Loss-
SALL2-
-
-
-
3Gain-
SALL3-
-
-
-
6Amp-
SALL4-
-
-
-
3Gain-
SAMD1-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
3Gain-
SAMD12-
-
-
-
4Gain-
SAMD13-
-
-
-
3Gain-
SAMD14-
-
-
-
3Gain-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD4B-
-
-
-
1Loss-
SAMD7-
-
-
-
0Del-
SAMD8-
-
-
-
1Loss-
SAMD9p.D192E
Missense
SNP
1.000
1Loss-
SAMD9L-
-
-
-
1Loss-
SAMHD1-
-
-
-
3Gain-
SAMSN1-
-
-
-
3Gain-
SAP130-
-
-
-
1Loss-
SAP18-
-
-
-
3Gain-
SAP25-
-
-
-
1Loss-
SAP30BP-
-
-
-
3Gain-
SAR1A-
-
-
-
1Loss-
SARAF-
-
-
-
3Gain-
SARM1-
-
-
-
3Gain-
SARNP-
-
-
-
3Gain-
SARS-
-
-
-
1Loss-
SARS2-
-
-
-
1Loss-
SART1-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO1-
-
-
-
3Gain-
SAXO2-
-
-
-
1Loss-
SBDS-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBK1-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3p.T237Lfs*23
Frame_Shift_Del
DEL
0.937
1Loss-
SBNO1-
-
-
-
3Gain-
SBNO2-
-
-
-
1Loss-
SBSN-
-
-
-
1Loss-
SBSPON-
-
-
-
5Amp-
SC5D-
-
-
-
3Gain-
SCAF1-
-
-
-
1Loss-
SCAF11-
-
-
-
3Gain-
SCAF4-
-
-
-
3Gain-
SCAI-
-
-
-
3Gain-
SCAMP2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCAPER-
-
-
-
1Loss-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCD-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD1-
-
-
-
11Amp-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
3Gain-
SCG5-
-
-
-
1Loss-
SCGB1A1-
-
-
-
3Gain-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1p.C24*
Nonsense
SNP
0.493
3Gain-
SCGB1D2-
-
-
-
3Gain-
SCGB1D4-
-
-
-
3Gain-
SCGB2A1-
-
-
-
3Gain-
SCGB2A2-
-
-
-
3Gain-
SCGB2B2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
1Loss-
SCMH1-
-
-
-
3Gain-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1B-
-
-
-
1Loss-
SCN2B-
-
-
-
3Gain-
SCN3B-
-
-
-
3Gain-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
3Gain-
SCN5A-
-
-
-
1Loss-
SCN8A-
-
-
-
3Gain-
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCNN1B-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCNN1G-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCP2-
-
-
-
3Gain-
SCP2D1-
-
-
-
3Gain-
SCPEP1-
-
-
-
3Gain-
SCRIB-
-
-
-
1Loss-
SCRN1-
-
-
-
1Loss-
SCRN2-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCTR-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL1-
-
-
-
3Gain-
SCYL2-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDC2-
-
-
-
6Amp-
SDC3-
-
-
-
1Loss-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
5Amp-
SDCBP2-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDF4-
-
-
-
3Gain-
SDHA-
-
-
-
1Loss-
SDHAF1-
-
-
-
1Loss-
SDHAF2-
-
-
-
3Gain-
SDHAF3-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
3Gain-
SDK1-
-
-
-
1Loss-
SDK2-
-
-
-
3Gain-
SDR16C5-
-
-
-
5Amp-
SDR39U1-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDR42E2p.L113M
Missense
SNP
0.978
1Loss-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEBOX-
-
-
-
3Gain-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
6Amp-
SEC13-
-
-
-
3Gain-
SEC14L1-
-
-
-
3Gain-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC22B-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23A-
-
-
-
10Amp-
SEC23B-
-
-
-
3Gain-
SEC23IP-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC61G-
-
-
-
1Loss-
SEC62-
-
-
-
0Del-
SECISBP2-
-
-
-
3Gain-
SECISBP2L-
-
-
-
3Gain-
SECTM1-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SELEp.G601R
Missense
SNP
0.446
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
3Gain-
SELENOH-
-
-
-
3Gain-
SELENOM-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOP-
-
-
-
5Amp-
SELENOS-
-
-
-
1Loss-
SELENOV-
-
-
-
1Loss-
SELENOW-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEM1-
-
-
-
1Loss-
SEMA3A-
-
-
-
1Loss-
SEMA3C-
-
-
-
1Loss-
SEMA3D-
-
-
-
1Loss-
SEMA3E-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4C-
-
-
-
3Gain-
SEMA4D-
-
-
-
3Gain-
SEMA4F-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
5Amp-
SEMA6B-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
3Gain-
SEMA7A-
-
-
-
1Loss-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP1-
-
-
-
3Gain-
SENP2-
-
-
-
0Del-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
0Del-
SENP8-
-
-
-
5Amp-
SEPHS1-
-
-
-
3Gain-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT10-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT14-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT7-
-
-
-
1Loss-
SEPT9-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERF2-
-
-
-
3Gain-
SERGEF-
-
-
-
1Loss-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
3Gain-
SERINC4-
-
-
-
3Gain-
SERP2-
-
-
-
3Gain-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
6Amp-
SERPINB11-
-
-
-
6Amp-
SERPINB12-
-
-
-
6Amp-
SERPINB13-
-
-
-
6Amp-
SERPINB2-
-
-
-
6Amp-
SERPINB3p.D194Y
Missense
SNP
0.206
6Amp-
SERPINB4-
-
-
-
6Amp-
SERPINB5-
-
-
-
6Amp-
SERPINB7-
-
-
-
6Amp-
SERPINB8-
-
-
-
6Amp-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
3Gain-
SERPINE1-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPING1-
-
-
-
3Gain-
SERPINH1-
-
-
-
3Gain-
SERPINI1-
-
-
-
0Del-
SERPINI2-
-
-
-
0Del-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SERTAD4-
-
-
-
1Loss-
SERTM1-
-
-
-
3Gain-
SESN2-
-
-
-
1Loss-
SESN3-
-
-
-
3Gain-
SESTD1-
-
-
-
1Loss-
SET-
-
-
-
3Gain-
SETBP1-
-
-
-
6Amp-
SETD1A-
-
-
-
1Loss-
SETD1B-
-
-
-
3Gain-
SETD2p.S344I
Missense
SNP
0.987
2--
SETD3-
-
-
-
1Loss-
SETD4-
-
-
-
3Gain-
SETD5-
-
-
-
3Gain-
SETD6-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
3Gain-
SEZ6-
-
-
-
3Gain-
SEZ6L-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF1-
-
-
-
3Gain-
SF3A1-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3A3-
-
-
-
3Gain-
SF3B1-
-
-
-
1Loss-
SF3B2-
-
-
-
3Gain-
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
1Loss-
SFMBT2-
-
-
-
3Gain-
SFN-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP4-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFSWAP-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFTA3-
-
-
-
15Amp-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
1Loss-
SFTPC-
-
-
-
3Gain-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCA-
-
-
-
3Gain-
SGCE-
-
-
-
1Loss-
SGCG-
-
-
-
3Gain-
SGCZ-
-
-
-
3Gain-
SGF29-
-
-
-
1Loss-
SGIP1-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
5Amp-
SGK494-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSH-
-
-
-
3Gain-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2B1-
-
-
-
1Loss-
SH2B2-
-
-
-
1Loss-
SH2B3-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D3A-
-
-
-
3Gain-
SH2D3C-
-
-
-
3Gain-
SH2D4A-
-
-
-
3Gain-
SH2D4B-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH2D6-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BGR-
-
-
-
3Gain-
SH3BGRL3-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP5-
-
-
-
3Gain-
SH3BP5L-
-
-
-
5Amp-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
3Gain-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
3Gain-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2Bp.R433*
Nonsense
SNP
1.000
2--
SH3RF3-
-
-
-
1Loss-
SH3YL1-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHANK2-
-
-
-
3Gain-
SHARPIN-
-
-
-
1Loss-
SHB-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC3-
-
-
-
3Gain-
SHC4-
-
-
-
3Gain-
SHCBP1-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
3Gain-
SHHp.P82L
Missense
SNP
0.194
1Loss-
SHISA2-
-
-
-
3Gain-
SHISA3-
-
-
-
1Loss-
SHISA4-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA7-
-
-
-
1Loss-
SHISA9-
-
-
-
1Loss-
SHISAL2A-
-
-
-
3Gain-
SHKBP1-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHLD2-
-
-
-
1Loss-
SHMT1-
-
-
-
3Gain-
SHMT2-
-
-
-
3Gain-
SHOC2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SI-
-
-
-
0Del-
SIAE-
-
-
-
3Gain-
SIAH1-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
3Gain-
SIGIRR-
-
-
-
1Loss-
SIGLEC1-
-
-
-
3Gain-
SIGLEC10-
-
-
-
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12p.F570L
Missense
SNP
1.000
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC15-
-
-
-
6Amp-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIGMAR1-
-
-
-
3Gain-
SIK1-
-
-
-
3Gain-
SIK1B-
-
-
-
3Gain-
SIK2-
-
-
-
3Gain-
SIK3-
-
-
-
3Gain-
SIKE1-
-
-
-
1Loss-
SIM2-
-
-
-
3Gain-
SIN3A-
-
-
-
1Loss-
SIN3B-
-
-
-
3Gain-
SIPA1-
-
-
-
3Gain-
SIPA1L1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3-
-
-
-
1Loss-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT1-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT4-
-
-
-
3Gain-
SIRT6-
-
-
-
1Loss-
SIRT7-
-
-
-
3Gain-
SIT1-
-
-
-
3Gain-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
6Amp-
SKA2-
-
-
-
3Gain-
SKA3-
-
-
-
3Gain-
SKAP1-
-
-
-
3Gain-
SKAP2-
-
-
-
1Loss-
SKI-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKIL-
-
-
-
0Del-
SKOR1-
-
-
-
3Gain-
SKOR2-
-
-
-
6Amp-
SKP2-
-
-
-
5Amp-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A1-
-
-
-
1Loss-
SLC10A2p.Q268R
Missense
MNP
1.000
1Loss-
SLC10A5-
-
-
-
6Amp-
SLC11A1-
-
-
-
1Loss-
SLC11A2-
-
-
-
3Gain-
SLC12A1-
-
-
-
3Gain-
SLC12A4-
-
-
-
1Loss-
SLC12A5p.V498Wfs*12
Frame_Shift_Del
DEL
0.517
3Gain-
SLC12A6p.E1126D
Missense
SNP
0.067
1Loss-
SLC12A7-
-
-
-
5Amp-
SLC12A9-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A2-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A4-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
6Amp-
SLC14A2-
-
-
-
6Amp-
SLC15A1p.P390H
Missense
SNP
1.000
1Loss-
SLC15A3-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A3-
-
-
-
3Gain-
SLC16A4-
-
-
-
1Loss-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A7-
-
-
-
3Gain-
SLC16A8-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A6p.G453V
Missense
SNP
0.986
1Loss-
SLC17A7-
-
-
-
1Loss-
SLC17A8-
-
-
-
3Gain-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
3Gain-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC19A1-
-
-
-
3Gain-
SLC19A2-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
3Gain-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
5Amp-
SLC1A5-
-
-
-
1Loss-
SLC1A6-
-
-
-
3Gain-
SLC1A7-
-
-
-
3Gain-
SLC20A1-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A10-
-
-
-
3Gain-
SLC22A11-
-
-
-
3Gain-
SLC22A12-
-
-
-
3Gain-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A17-
-
-
-
3Gain-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A24-
-
-
-
3Gain-
SLC22A25-
-
-
-
3Gain-
SLC22A31-
-
-
-
1Loss-
SLC22A6-
-
-
-
3Gain-
SLC22A8-
-
-
-
3Gain-
SLC22A9-
-
-
-
3Gain-
SLC23A2-
-
-
-
3Gain-
SLC23A3-
-
-
-
1Loss-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC24A3-
-
-
-
3Gain-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
3Gain-
SLC25A10-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A13-
-
-
-
1Loss-
SLC25A15-
-
-
-
3Gain-
SLC25A16-
-
-
-
1Loss-
SLC25A18-
-
-
-
3Gain-
SLC25A19-
-
-
-
3Gain-
SLC25A21-
-
-
-
15Amp-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
3Gain-
SLC25A24-
-
-
-
1Loss-
SLC25A25-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A32-
-
-
-
4Gain-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A39-
-
-
-
3Gain-
SLC25A4-
-
-
-
1Loss-
SLC25A40-
-
-
-
1Loss-
SLC25A41-
-
-
-
3Gain-
SLC25A42-
-
-
-
3Gain-
SLC25A44-
-
-
-
3Gain-
SLC25A45-
-
-
-
3Gain-
SLC25A47-
-
-
-
1Loss-
SLC25A51-
-
-
-
3Gain-
SLC25A52-
-
-
-
6Amp-
SLC26A10-
-
-
-
3Gain-
SLC26A11-
-
-
-
3Gain-
SLC26A3-
-
-
-
1Loss-
SLC26A4-
-
-
-
1Loss-
SLC26A5-
-
-
-
1Loss-
SLC26A7p.V74Cfs*58
Frame_Shift_Ins
INS
0.489
6Amp-
SLC26A9-
-
-
-
1Loss-
SLC27A1-
-
-
-
3Gain-
SLC27A2-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A4-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
3Gain-
SLC28A3-
-
-
-
3Gain-
SLC29A2-
-
-
-
3Gain-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
1Loss-
SLC2A1-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A11-
-
-
-
3Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
1Loss-
SLC2A2-
-
-
-
0Del-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A1-
-
-
-
1Loss-
SLC30A10-
-
-
-
1Loss-
SLC30A2-
-
-
-
1Loss-
SLC30A4-
-
-
-
3Gain-
SLC30A8-
-
-
-
4Gain-
SLC30A9-
-
-
-
1Loss-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC35B1-
-
-
-
3Gain-
SLC35B4-
-
-
-
1Loss-
SLC35C1-
-
-
-
1Loss-
SLC35C2-
-
-
-
3Gain-
SLC35D1-
-
-
-
3Gain-
SLC35D2-
-
-
-
3Gain-
SLC35E1-
-
-
-
3Gain-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E3-
-
-
-
3Gain-
SLC35E4-
-
-
-
1Loss-
SLC35F2-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
1Loss-
SLC35F5-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G3-
-
-
-
3Gain-
SLC35G4-
-
-
-
1Loss-
SLC35G5-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
3Gain-
SLC37A1-
-
-
-
3Gain-
SLC37A2-
-
-
-
3Gain-
SLC37A3-
-
-
-
1Loss-
SLC37A4-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A10-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC38A6-
-
-
-
1Loss-
SLC38A7-
-
-
-
3Gain-
SLC38A8-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A10-
-
-
-
1Loss-
SLC39A11-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
3Gain-
SLC39A2-
-
-
-
3Gain-
SLC39A3-
-
-
-
1Loss-
SLC39A5-
-
-
-
3Gain-
SLC39A6-
-
-
-
6Amp-
SLC39A9-
-
-
-
1Loss-
SLC3A2-
-
-
-
3Gain-
SLC40A1-
-
-
-
1Loss-
SLC41A1-
-
-
-
1Loss-
SLC41A2-
-
-
-
3Gain-
SLC43A1-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC43A3-
-
-
-
3Gain-
SLC44A1-
-
-
-
3Gain-
SLC44A2-
-
-
-
5Amp-
SLC44A5-
-
-
-
3Gain-
SLC45A2p.W140S
Missense
SNP
0.313
5Amp-
SLC45A3-
-
-
-
1Loss-
SLC45A4-
-
-
-
1Loss-
SLC46A1-
-
-
-
3Gain-
SLC46A2-
-
-
-
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC47A1-
-
-
-
3Gain-
SLC47A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A1-
-
-
-
3Gain-
SLC4A10-
-
-
-
1Loss-
SLC4A11-
-
-
-
3Gain-
SLC4A2-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A8-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
0Del-
SLC51B-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
3Gain-
SLC5A11-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A3-
-
-
-
3Gain-
SLC5A4-
-
-
-
1Loss-
SLC5A5-
-
-
-
3Gain-
SLC5A7-
-
-
-
1Loss-
SLC5A8-
-
-
-
3Gain-
SLC5A9-
-
-
-
3Gain-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A15-
-
-
-
3Gain-
SLC6A16-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A18p.A399Lfs*46
Frame_Shift_Del
DEL
0.274
5Amp-
SLC6A19-
-
-
-
5Amp-
SLC6A2-
-
-
-
3Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
5Amp-
SLC6A4-
-
-
-
3Gain-
SLC6A5-
-
-
-
1Loss-
SLC6A6-
-
-
-
3Gain-
SLC6A9-
-
-
-
3Gain-
SLC7A1-
-
-
-
3Gain-
SLC7A10-
-
-
-
1Loss-
SLC7A13-
-
-
-
6Amp-
SLC7A14-
-
-
-
0Del-
SLC7A2-
-
-
-
3Gain-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC7A9-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC8B1-
-
-
-
3Gain-
SLC9A1-
-
-
-
1Loss-
SLC9A2-
-
-
-
1Loss-
SLC9A3-
-
-
-
5Amp-
SLC9A3R1-
-
-
-
3Gain-
SLC9A4-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLC9A9p.D608Y
Missense
SNP
0.669
2--
SLC9C2-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2B1-
-
-
-
3Gain-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
5Amp-
SLF2-
-
-
-
1Loss-
SLFN11-
-
-
-
3Gain-
SLFN12-
-
-
-
3Gain-
SLFN12L-
-
-
-
3Gain-
SLFN13-
-
-
-
3Gain-
SLFN14-
-
-
-
3Gain-
SLFN5-
-
-
-
3Gain-
SLFNL1-
-
-
-
3Gain-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
0Del-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
3Gain-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
3Gain-
SLURP1-
-
-
-
1Loss-
SLURP2-
-
-
-
1Loss-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4IP-
-
-
-
3Gain-
SMAD2-
-
-
-
6Amp-
SMAD3-
-
-
-
3Gain-
SMAD4-
-
-
-
6Amp-
SMAD6-
-
-
-
3Gain-
SMAD7-
-
-
-
6Amp-
SMAD9-
-
-
-
3Gain-
SMAGP-
-
-
-
3Gain-
SMAP2-
-
-
-
3Gain-
SMARCA2-
-
-
-
3Gain-
SMARCA4-
-
-
-
5Amp-
SMARCAL1-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMARCD2-
-
-
-
3Gain-
SMARCD3-
-
-
-
1Loss-
SMARCE1-
-
-
-
3Gain-
SMC2-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMC5p.T864A
Missense
SNP
0.442
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO1-
-
-
-
0Del-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
1Loss-
SMCO4-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
3Gain-
SMG1-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG6p.E1312V
Missense
SNP
1.000
1Loss-
SMG7-
-
-
-
3Gain-
SMG8-
-
-
-
3Gain-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
3Gain-
SMIM11A-
-
-
-
3Gain-
SMIM11B-
-
-
-
3Gain-
SMIM14-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM21-
-
-
-
6Amp-
SMIM22-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
3Gain-
SMIM30-
-
-
-
1Loss-
SMIM34A-
-
-
-
3Gain-
SMIM34B-
-
-
-
3Gain-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMIM7-
-
-
-
3Gain-
SMKR1-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMPDL3B-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMTNL1-
-
-
-
3Gain-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SMURF1-
-
-
-
1Loss-
SMURF2-
-
-
-
3Gain-
SMYD1-
-
-
-
1Loss-
SMYD2-
-
-
-
1Loss-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
5Amp-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC1-
-
-
-
1Loss-
SNAPC2-
-
-
-
3Gain-
SNAPC3-
-
-
-
3Gain-
SNAPC5-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
1Loss-
SNF8-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNIP1-
-
-
-
3Gain-
SNN-
-
-
-
1Loss-
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP200-
-
-
-
1Loss-
SNRNP35-
-
-
-
3Gain-
SNRNP40-
-
-
-
1Loss-
SNRNP70-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPD2-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNRPE-
-
-
-
1Loss-
SNRPF-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
4Gain-
SNTB2-
-
-
-
1Loss-
SNTG1-
-
-
-
5Amp-
SNTG2-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
1Loss-
SNX11-
-
-
-
3Gain-
SNX13p.L928I
Missense
SNP
0.986
1Loss-
SNX15-
-
-
-
3Gain-
SNX16-
-
-
-
6Amp-
SNX19-
-
-
-
3Gain-
SNX20-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
3Gain-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
1Loss-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
4Gain-
SNX32-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX6-
-
-
-
6Amp-
SNX8-
-
-
-
1LossSNX8--AL512356.1
SOAT1-
-
-
-
3Gain-
SOAT2-
-
-
-
3Gain-
SOBPp.L514I
Missense
SNP
0.989
2--
SOCS1-
-
-
-
1Loss-
SOCS2-
-
-
-
3Gain-
SOCS3-
-
-
-
3Gain-
SOCS4-
-
-
-
1Loss-
SOCS6-
-
-
-
6Amp-
SOCS7-
-
-
-
3Gain-
SOD1-
-
-
-
3Gain-
SOGA1-
-
-
-
3Gain-
SOHLH2-
-
-
-
3Gain-
SON-
-
-
-
3Gain-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
3Gain-
SORCS1-
-
-
-
1Loss-
SORCS3p.W343Lfs*8
Frame_Shift_Ins
INS
0.481
1Loss-
SORD-
-
-
-
3Gain-
SORL1-
-
-
-
3Gain-
SORT1-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOST-
-
-
-
3Gain-
SOSTDC1-
-
-
-
1Loss-
SOWAHBp.E126G
Missense
SNP
0.582
2--
SOWAHC-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX13-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
5Amp-
SOX18-
-
-
-
3Gain-
SOX2-
-
-
-
0Del-
SOX21-
-
-
-
1Loss-
SOX5-
-
-
-
3Gain-
SOX6-
-
-
-
0Del-
SOX7-
-
-
-
3Gain-
SOX9-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP100p.E412*
Nonsense
SNP
1.000
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP2-
-
-
-
3Gain-
SP4-
-
-
-
1Loss-
SP6-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SP8-
-
-
-
1Loss-
SPA17-
-
-
-
3Gain-
SPAAR-
-
-
-
3Gain-
SPACA3-
-
-
-
3Gain-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPAG1-
-
-
-
4Gain-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG16p.V355L
Missense
SNP
1.000
1Loss-
SPAG17-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAG5-
-
-
-
3Gain-
SPAG6-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
3Gain-
SPAG9-
-
-
-
3Gain-
SPAM1-
-
-
-
1Loss-
SPART-
-
-
-
3Gain-
SPATA1-
-
-
-
3Gain-
SPATA13-
-
-
-
3Gain-
SPATA16-
-
-
-
0Del-
SPATA17-
-
-
-
1Loss-
SPATA19-
-
-
-
3Gain-
SPATA2-
-
-
-
3Gain-
SPATA20-
-
-
-
3Gain-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31A1-
-
-
-
3Gain-
SPATA31A3-
-
-
-
3Gain-
SPATA31A5-
-
-
-
3Gain-
SPATA31A7-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3p.F753Y
p.E755D
Missense
Missense
SNP
SNP
0.971
0.978
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA32-
-
-
-
3Gain-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
1Loss-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
1Loss-
SPATA5L1-
-
-
-
3Gain-
SPATA6-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATA7-
-
-
-
1Loss-
SPATC1-
-
-
-
1Loss-
SPATC1L-
-
-
-
3Gain-
SPATS2-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPCS2-
-
-
-
3Gain-
SPDYC-
-
-
-
3Gain-
SPDYE2-
-
-
-
1Loss-
SPDYE3-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
5Amp-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPEF2-
-
-
-
5Amp-
SPEG-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
3Gain-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHK1-
-
-
-
3Gain-
SPHK2-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPIC-
-
-
-
3Gain-
SPIDR-
-
-
-
1Loss-
SPIN1-
-
-
-
3Gain-
SPINDOC-
-
-
-
3Gain-
SPINK2-
-
-
-
0Del-
SPINK4-
-
-
-
3Gain-
SPINT1-
-
-
-
1Loss-
SPINT2-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPOP-
-
-
-
3Gain-
SPOPL-
-
-
-
1Loss-
SPOUT1-
-
-
-
3Gain-
SPPL2A-
-
-
-
3Gain-
SPPL2B-
-
-
-
1Loss-
SPPL2C-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRED1-
-
-
-
1Loss-
SPRED3-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPRYD7-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTAN1-
-
-
-
3Gain-
SPTB-
-
-
-
1Loss-
SPTBN2-
-
-
-
3Gain-
SPTBN4-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC1-
-
-
-
3Gain-
SPTLC2-
-
-
-
1Loss-
SPTLC3-
-
-
-
3Gain-
SPTSSA-
-
-
-
6Amp-
SPTSSB-
-
-
-
0Del-
SPTY2D1-
-
-
-
1Loss-
SPX-
-
-
-
3Gain-
SQLE-
-
-
-
4Gain-
SQOR-
-
-
-
3Gain-
SRARP-
-
-
-
1Loss-
SRBD1p.M613T
Missense
SNP
0.987
2--
SRC-
-
-
-
3Gain-
SRCAP-
-
-
-
1Loss-
SRCIN1-
-
-
-
3Gain-
SRD5A1-
-
-
-
5Amp-
SRD5A3-
-
-
-
0Del-
SREBF1-
-
-
-
3Gain-
SRGAP1p.X23_splice
Splice_Site
SNP
0.396
3Gain-
SRGAP2-
-
-
-
1Loss-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
1Loss-
SRGAP3-
-
-
-
3Gain-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
1Loss-
SRL-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP54-
-
-
-
6Amp-
SRP68-
-
-
-
3Gain-
SRP72-
-
-
-
0Del-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
1Loss-
SRPRA-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM3-
-
-
-
1Loss-
SRRM4-
-
-
-
3Gain-
SRRM5-
-
-
-
1Loss-
SRRT-
-
-
-
1Loss-
SRSF1-
-
-
-
3Gain-
SRSF10-
-
-
-
1Loss-
SRSF11p.R250I
Missense
SNP
0.536
3Gain-
SRSF2-
-
-
-
3Gain-
SRSF4-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF8-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
6Amp-
SS18L1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP1-
-
-
-
1Loss-
SSBP3-
-
-
-
3Gain-
SSBP4-
-
-
-
3Gain-
SSC4Dp.C482*
Nonsense
SNP
1.000
1Loss-
SSC5D-
-
-
-
1Loss-
SSH1-
-
-
-
3Gain-
SSH2-
-
-
-
3Gain-
SSH3-
-
-
-
3Gain-
SSMEM1-
-
-
-
1Loss-
SSPN-
-
-
-
3Gain-
SSPO-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSRP1-
-
-
-
3Gain-
SSSCA1-
-
-
-
3Gain-
SST-
-
-
-
0Del-
SSTR1-
-
-
-
15Amp-
SSTR2-
-
-
-
3Gain-
SSTR3-
-
-
-
1Loss-
SSTR4p.A44E
Missense
SNP
0.458
3Gain-
SSU72-
-
-
-
3Gain-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSU72P8-
-
-
-
1Loss-
SSUH2-
-
-
-
3Gain-
SSX2IP-
-
-
-
3Gain-
ST14-
-
-
-
3Gain-
ST18-
-
-
-
5Amp-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL1-
-
-
-
3Gain-
ST3GAL2-
-
-
-
1Loss-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
3Gain-
ST3GAL5-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GAL1-
-
-
-
0Del-
ST6GAL2-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST6GALNAC6-
-
-
-
3Gain-
ST7-
-
-
-
1Loss-
ST7L-
-
-
-
1Loss-
ST8SIA1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
6Amp-
ST8SIA5-
-
-
-
6Amp-
ST8SIA6-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC-
-
-
-
1Loss-
STAC2-
-
-
-
3Gain-
STAC3.
Splice_Site
SNP
0.486
3Gain-
STAG3-
-
-
-
1Loss-
STAM-
-
-
-
3Gain-
STAM2-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD10-
-
-
-
3Gain-
STARD13-
-
-
-
3Gain-
STARD3-
-
-
-
3Gain-
STARD3NL-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
6Amp-
STARD7-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAT1-
-
-
-
1Loss-
STAT2-
-
-
-
3Gain-
STAT3-
-
-
-
3Gain-
STAT4-
-
-
-
1Loss-
STAT5A-
-
-
-
3Gain-
STAT5B-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
5Amp-
STC1-
-
-
-
3Gain-
STEAP1-
-
-
-
1Loss-
STEAP1B-
-
-
-
1Loss-
STEAP2-
-
-
-
1Loss-
STEAP3-
-
-
-
1Loss-
STEAP4-
-
-
-
1Loss-
STH-
-
-
-
3Gain-
STIL-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIP1-
-
-
-
3Gain-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
1Loss-
STK17B-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK3-
-
-
-
6Amp-
STK31-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK35-
-
-
-
3Gain-
STK36-
-
-
-
1Loss-
STK38L-
-
-
-
3Gain-
STK4-
-
-
-
3Gain-
STK40-
-
-
-
3Gain-
STMN1-
-
-
-
1Loss-
STMN2-
-
-
-
6Amp-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
3Gain-
STMND1p.K20E
Missense
SNP
1.000
2--
STMP1-
-
-
-
1Loss-
STN1-
-
-
-
1Loss-
STOM-
-
-
-
3Gain-
STOML1-
-
-
-
3Gain-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG3p.H188Q
Missense
SNP
0.667
2--
STRA6-
-
-
-
1Loss-
STRA8-
-
-
-
1Loss-
STRADA-
-
-
-
3Gain-
STRADB-
-
-
-
1Loss-
STRAP-
-
-
-
1Loss-
STRBP-
-
-
-
3Gain-
STRC-
-
-
-
3Gain-
STRIP1-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STRN3-
-
-
-
11Amp-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
3Gain-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX10-
-
-
-
3Gain-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX17-
-
-
-
3Gain-
STX1A-
-
-
-
1Loss-
STX1B-
-
-
-
1Loss-
STX2-
-
-
-
3Gain-
STX3-
-
-
-
3Gain-
STX4-
-
-
-
1Loss-
STX5-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
3Gain-
STXBP2-
-
-
-
3Gain-
STXBP3-
-
-
-
1Loss-
STXBP4-
-
-
-
3Gain-
STXBP6-
-
-
-
11Amp-
STYK1-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
STYXL1-
-
-
-
1Loss-
SUB1-
-
-
-
5Amp-
SUCLA2-
-
-
-
3Gain-
SUCLG1-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SUGCT-
-
-
-
1Loss-
SUGP1-
-
-
-
3Gain-
SUGP2-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
5Amp-
SULF2-
-
-
-
3Gain-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT1C2-
-
-
-
1Loss-
SULT1C3-
-
-
-
1Loss-
SULT1C4-
-
-
-
1Loss-
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SUMF1-
-
-
-
3Gain-
SUMF2p.T344R
Missense
SNP
0.988
1Loss-
SUMO1-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUMO3-
-
-
-
3Gain-
SUN1-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUN3-
-
-
-
1Loss-
SUN5-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT16H-
-
-
-
3Gain-
SUPT20H-
-
-
-
3Gain-
SUPT4H1-
-
-
-
3Gain-
SUPT5H-
-
-
-
1Loss-
SUPT6H-
-
-
-
3Gain-
SUPV3L1-
-
-
-
1Loss-
SUSD1-
-
-
-
3Gain-
SUSD2-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SUZ12-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SVBP-
-
-
-
3Gain-
SVEP1-
-
-
-
3Gain-
SVILp.I660V
Missense
SNP
0.627
3Gain-
SVIP-
-
-
-
1Loss-
SVOP-
-
-
-
3Gain-
SVOPL-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWI5-
-
-
-
3Gain-
SWSAP1-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
4Gain-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE2-
-
-
-
3Gain-
SYCN-
-
-
-
1Loss-
SYCP1-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYDE1-
-
-
-
3Gain-
SYDE2-
-
-
-
3Gain-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYMPK-
-
-
-
1Loss-
SYN2p.T506N
Missense
SNP
0.323
3Gain-
SYN3-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNE4-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNGR2-
-
-
-
3Gain-
SYNGR4-
-
-
-
1Loss-
SYNJ1-
-
-
-
3Gain-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO2p.E1039V
Missense
SNP
0.375
2--
SYNPO2L-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYNRG-
-
-
-
3Gain-
SYPL1-
-
-
-
1Loss-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT12-
-
-
-
3Gain-
SYT13-
-
-
-
1Loss-
SYT14-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT17-
-
-
-
1Loss-
SYT2-
-
-
-
1Loss-
SYT3-
-
-
-
1Loss-
SYT4-
-
-
-
6Amp-
SYT5-
-
-
-
1Loss-
SYT6-
-
-
-
1Loss-
SYT7-
-
-
-
3Gain-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYTL2-
-
-
-
3Gain-
SYVN1-
-
-
-
3Gain-
SZRD1-
-
-
-
1Loss-
SZT2-
-
-
-
3Gain-
TAB1-
-
-
-
1Loss-
TAC1-
-
-
-
1Loss-
TAC3-
-
-
-
3Gain-
TAC4-
-
-
-
3Gain-
TACC1-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TACR1-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACSTD2-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TADA2A-
-
-
-
3Gain-
TADA3-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF15-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
3Gain-
TAF1L-
-
-
-
3Gain-
TAF2-
-
-
-
4Gain-
TAF3-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
6Amp-
TAF5-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
1Loss-
TAF6L-
-
-
-
3Gain-
TAGLN-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TAL1-
-
-
-
3Gain-
TAL2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
3Gain-
TANC1-
-
-
-
1Loss-
TANC2-
-
-
-
3Gain-
TANGO2-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TANK-
-
-
-
1Loss-
TAOK1-
-
-
-
3Gain-
TAOK2-
-
-
-
1Loss-
TAOK3-
-
-
-
3Gain-
TAPBPL-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TARM1-
-
-
-
1Loss-
TARS-
-
-
-
5Amp-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
3Gain-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
3Gain-
TAS2R1p.G132V
Missense
SNP
0.674
5Amp-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
1Loss-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
1Loss-
TAS2R4-
-
-
-
1Loss-
TAS2R40-
-
-
-
1Loss-
TAS2R41-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R5-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R60-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN1-
-
-
-
4Gain-
TATDN2p.K174R
Missense
SNP
0.098
3Gain-
TATDN3-
-
-
-
1Loss-
TAX1BP1-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D10B-
-
-
-
1Loss-
TBC1D10C-
-
-
-
3Gain-
TBC1D12-
-
-
-
1Loss-
TBC1D13-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D16-
-
-
-
3Gain-
TBC1D17-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D21p.Q158E
Missense
SNP
0.512
3Gain-
TBC1D26-
-
-
-
3Gain-
TBC1D28-
-
-
-
3Gain-
TBC1D29-
-
-
-
3Gain-
TBC1D2B-
-
-
-
1Loss-
TBC1D30-
-
-
-
3Gain-
TBC1D31-
-
-
-
4Gain-
TBC1D3B-
-
-
-
3Gain-
TBC1D3D-
-
-
-
3Gain-
TBC1D3F-
-
-
-
3Gain-
TBC1D3G-
-
-
-
3Gain-
TBC1D3H-
-
-
-
3Gain-
TBC1D3I-
-
-
-
3Gain-
TBC1D3K-
-
-
-
3Gain-
TBC1D3L-
-
-
-
3Gain-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D8-
-
-
-
3Gain-
TBC1D9Bp.V48L
Missense
SNP
1.000
2--
TBCB-
-
-
-
1Loss-
TBCCD1-
-
-
-
0Del-
TBCD-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBKBP1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
0Del-
TBL2-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBR1-
-
-
-
1Loss-
TBRG1-
-
-
-
3Gain-
TBRG4-
-
-
-
1Loss-
TBX1-
-
-
-
3Gain-
TBX10-
-
-
-
3Gain-
TBX15-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX2-
-
-
-
3Gain-
TBX20-
-
-
-
1Loss-
TBX21-
-
-
-
3Gain-
TBX3p.L706M
Missense
SNP
0.546
3Gain-
TBX4p.V269E
Missense
SNP
0.463
3Gain-
TBX5-
-
-
-
3Gain-
TBX6-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
1Loss-
TCAF2-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCAP-
-
-
-
3Gain-
TCEA1-
-
-
-
5Amp-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCEANC2-
-
-
-
3Gain-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
3Gain-
TCF15-
-
-
-
3Gain-
TCF24-
-
-
-
5Amp-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
6Amp-
TCF7L1-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCHP-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCIRG1-
-
-
-
3Gain-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN1-
-
-
-
3Gain-
TCN2-
-
-
-
1Loss-
TCP10L-
-
-
-
3Gain-
TCP11L1-
-
-
-
1Loss-
TCP11L2-
-
-
-
3Gain-
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
0Del-
TCTEX1D4-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
3Gain-
TDP1-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD12-
-
-
-
1Loss-
TDRD3-
-
-
-
5Amp-
TDRD5-
-
-
-
3Gain-
TDRD7-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TEAD2-
-
-
-
1Loss-
TEAD4-
-
-
-
1Loss-
TECPR1-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TECR-
-
-
-
3Gain-
TECTAp.V1618L
Missense
SNP
0.443
3Gain-
TECTB-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEFM-
-
-
-
3Gain-
TEK-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
3Gain-
TEKT3-
-
-
-
3Gain-
TEKT4-
-
-
-
1Loss-
TEKT5-
-
-
-
1Loss-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
3Gain-
TENT4A-
-
-
-
5Amp-
TENT4B-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TEP1-
-
-
-
3Gain-
TEPP-
-
-
-
3Gain-
TEPSIN-
-
-
-
3Gain-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
3Gain-
TERF1-
-
-
-
5Amp-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERTp.H816N
Missense
SNP
0.283
5Amp-
TES-
-
-
-
1Loss-
TESC-
-
-
-
3Gain-
TESK1-
-
-
-
3Gain-
TESK2-
-
-
-
3Gain-
TESMIN-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TET1-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX101-
-
-
-
1Loss-
TEX12-
-
-
-
3Gain-
TEX14-
-
-
-
3Gain-
TEX15-
-
-
-
3Gain-
TEX19-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX36-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX44-
-
-
-
1Loss-
TEX45-
-
-
-
3Gain-
TEX46-
-
-
-
1Loss-
TEX47-
-
-
-
1Loss-
TEX48-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX51-
-
-
-
1Loss-
TEX52-
-
-
-
1Loss-
TEX9-
-
-
-
3Gain-
TFAM-
-
-
-
1Loss-
TFAP2Ap.G20S
Missense
SNP
0.923
2--
TFAP2C-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFCP2-
-
-
-
3Gain-
TFCP2L1-
-
-
-
1Loss-
TFDP1-
-
-
-
1Loss-
TFEC-
-
-
-
1Loss-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI-
-
-
-
1Loss-
TFPI2-
-
-
-
1Loss-
TFPT-
-
-
-
1Loss-
TFR2-
-
-
-
1Loss-
TFRC-
-
-
-
0Del-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFB1I1-
-
-
-
1Loss-
TGFB2-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
3Gain-
TGFBRAP1-
-
-
-
1Loss-
TGIF1-
-
-
-
1Loss-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGM7-
-
-
-
1Loss-
TGOLN2-
-
-
-
1Loss-
TGS1-
-
-
-
5Amp-
TH-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THAP10-
-
-
-
3Gain-
THAP11-
-
-
-
1Loss-
THAP12-
-
-
-
3Gain-
THAP2-
-
-
-
3Gain-
THAP3-
-
-
-
3Gain-
THAP5-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THAP8-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THBS1-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEGL-
-
-
-
0Del-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
1Loss-
THEMIS2-
-
-
-
1Loss-
THNSL1-
-
-
-
3Gain-
THNSL2-
-
-
-
1Loss-
THOC1-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THPO-
-
-
-
0Del-
THRA-
-
-
-
3Gain-
THRAP3-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
3Gain-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
3Gain-
THSD7A-
-
-
-
1Loss-
THSD7B-
-
-
-
1Loss-
THTPA-
-
-
-
3Gain-
THUMPD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
3Gain-
THY1-
-
-
-
3Gain-
THYN1-
-
-
-
3Gain-
TIAF1-
-
-
-
3Gain-
TIAL1-
-
-
-
1Loss-
TIAM1-
-
-
-
3Gain-
TICAM1-
-
-
-
1Loss-
TIE1-
-
-
-
3Gain-
TIGAR-
-
-
-
1Loss-
TIGD3-
-
-
-
3Gain-
TIGD5-
-
-
-
1Loss-
TIMD4p.E227*
Nonsense
SNP
1.000
2--
TIMELESS-
-
-
-
3Gain-
TIMM10-
-
-
-
3Gain-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM17A-
-
-
-
1Loss-
TIMM21-
-
-
-
6Amp-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM29-
-
-
-
5Amp-
TIMM44-
-
-
-
3Gain-
TIMM50-
-
-
-
1Loss-
TIMM8B-
-
-
-
3Gain-
TIMM9-
-
-
-
1Loss-
TIMP2-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
5Amp-
TINAGp.G181Efs*2
Frame_Shift_Del
DEL
0.989
2--
TINAGL1-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPINp.F123V
Missense
SNP
0.529
3Gain-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
3Gain-
TJP1-
-
-
-
1Loss-
TJP2-
-
-
-
3Gain-
TJP3-
-
-
-
1Loss-
TK1-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TKFC-
-
-
-
3Gain-
TLCD1-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE1-
-
-
-
3Gain-
TLE2-
-
-
-
1Loss-
TLE4-
-
-
-
3Gain-
TLE6-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLN1-
-
-
-
3Gain-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR4p.G668C
Missense
SNP
0.464
3Gain-
TLR5-
-
-
-
3Gain-
TLR6-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX2-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM2D2-
-
-
-
1Loss-
TM2D3-
-
-
-
1Loss-
TM4SF19-
-
-
-
0Del-
TM4SF19-TCTEX1D2-
-
-
-
0Del-
TM4SF20-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM6SF2-
-
-
-
3Gain-
TM7SF2-
-
-
-
3Gain-
TM7SF3-
-
-
-
3Gain-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TM9SF4-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMC1-
-
-
-
3Gain-
TMC2-
-
-
-
3Gain-
TMC3-
-
-
-
1Loss-
TMC4-
-
-
-
1Loss-
TMC5-
-
-
-
1Loss-
TMC6-
-
-
-
3Gain-
TMC7-
-
-
-
1Loss-
TMC8-
-
-
-
3Gain-
TMCC2-
-
-
-
1Loss-
TMCC3-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO2-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMED1-
-
-
-
5Amp-
TMED10-
-
-
-
1Loss-
TMED2-
-
-
-
3Gain-
TMED3p.D174Y
Missense
SNP
1.000
1Loss-
TMED4-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEFF2-
-
-
-
1Loss-
TMEM100-
-
-
-
3Gain-
TMEM101-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
3Gain-
TMEM106A-
-
-
-
3Gain-
TMEM106B-
-
-
-
1Loss-
TMEM106C-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM109-
-
-
-
3Gain-
TMEM11-
-
-
-
3Gain-
TMEM114-
-
-
-
1Loss-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120A-
-
-
-
1Loss-
TMEM120Bp.S2Y
Missense
SNP
0.387
3Gain-
TMEM121-
-
-
-
1Loss-
TMEM121B-
-
-
-
3Gain-
TMEM123-
-
-
-
3Gain-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
3Gain-
TMEM126B-
-
-
-
3Gain-
TMEM127-
-
-
-
1Loss-
TMEM130-
-
-
-
1Loss-
TMEM131-
-
-
-
3Gain-
TMEM132A-
-
-
-
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM132E-
-
-
-
3Gain-
TMEM134-
-
-
-
3Gain-
TMEM135-
-
-
-
3Gain-
TMEM136-
-
-
-
3Gain-
TMEM138-
-
-
-
3Gain-
TMEM139-
-
-
-
1Loss-
TMEM140-
-
-
-
1Loss-
TMEM143-
-
-
-
1Loss-
TMEM144p.G71V
Missense
SNP
0.701
2--
TMEM145-
-
-
-
1Loss-
TMEM147-
-
-
-
1Loss-
TMEM150A-
-
-
-
1Loss-
TMEM150B-
-
-
-
1Loss-
TMEM151A-
-
-
-
3Gain-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
3Gain-
TMEM163-
-
-
-
1Loss-
TMEM165-
-
-
-
0Del-
TMEM167B-
-
-
-
1Loss-
TMEM168-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM176A-
-
-
-
1Loss-
TMEM176B-
-
-
-
1Loss-
TMEM177-
-
-
-
1Loss-
TMEM178B-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM179B-
-
-
-
3Gain-
TMEM18-
-
-
-
1Loss-
TMEM182-
-
-
-
1Loss-
TMEM183A-
-
-
-
1Loss-
TMEM184A-
-
-
-
1Loss-
TMEM184B-
-
-
-
1Loss-
TMEM185B-
-
-
-
1Loss-
TMEM186-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM190-
-
-
-
1Loss-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM196-
-
-
-
1Loss-
TMEM198-
-
-
-
1Loss-
TMEM199-
-
-
-
3Gain-
TMEM200B-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM202-
-
-
-
5Amp-
TMEM205-
-
-
-
3Gain-
TMEM206-
-
-
-
1Loss-
TMEM207-
-
-
-
0Del-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
1Loss-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
0Del-
TMEM213-
-
-
-
1Loss-
TMEM215-
-
-
-
3Gain-
TMEM216-
-
-
-
3Gain-
TMEM218-
-
-
-
3Gain-
TMEM219-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
3Gain-
TMEM222-
-
-
-
1Loss-
TMEM223-
-
-
-
3Gain-
TMEM225-
-
-
-
3Gain-
TMEM225B-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM233-
-
-
-
3Gain-
TMEM234-
-
-
-
1Loss-
TMEM235-
-
-
-
3Gain-
TMEM236-
-
-
-
3Gain-
TMEM237-
-
-
-
1Loss-
TMEM238-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM243-
-
-
-
1Loss-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM248-
-
-
-
1Loss-
TMEM25-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM252-
-
-
-
3Gain-
TMEM253-
-
-
-
3Gain-
TMEM254-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
3Gain-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM262-
-
-
-
3Gain-
TMEM263-
-
-
-
3Gain-
TMEM266-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM268-
-
-
-
3Gain-
TMEM269-
-
-
-
3Gain-
TMEM270-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM37-
-
-
-
1Loss-
TMEM38A-
-
-
-
3Gain-
TMEM38B-
-
-
-
3Gain-
TMEM39B-
-
-
-
1Loss-
TMEM40-
-
-
-
3Gain-
TMEM41A-
-
-
-
0Del-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
3Gain-
TMEM44-
-
-
-
0Del-
TMEM45B-
-
-
-
3Gain-
TMEM50A-
-
-
-
1Loss-
TMEM50B-
-
-
-
3Gain-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
3Gain-
TMEM52B-
-
-
-
1Loss-
TMEM53-
-
-
-
3Gain-
TMEM59-
-
-
-
3Gain-
TMEM59L-
-
-
-
3Gain-
TMEM60-
-
-
-
1Loss-
TMEM61-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
6Amp-
TMEM65-
-
-
-
4Gain-
TMEM67-
-
-
-
6Amp-
TMEM68-
-
-
-
5Amp-
TMEM69-
-
-
-
3Gain-
TMEM70-
-
-
-
5Amp-
TMEM71-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM74-
-
-
-
4Gain-
TMEM74B-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM81-
-
-
-
1Loss-
TMEM82-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM86B-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM87B-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM8B-
-
-
-
3Gain-
TMEM9-
-
-
-
1Loss-
TMEM91-
-
-
-
1Loss-
TMEM92-
-
-
-
3Gain-
TMEM94-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
3Gain-
TMEM98-
-
-
-
3Gain-
TMEM99-
-
-
-
3Gain-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIGD1-
-
-
-
3Gain-
TMIGD2-
-
-
-
1Loss-
TMIGD3-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS12-
-
-
-
3Gain-
TMPRSS13-
-
-
-
3Gain-
TMPRSS15p.Q559L
Missense
SNP
0.512
3Gain-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS4-
-
-
-
3Gain-
TMPRSS5-
-
-
-
3Gain-
TMPRSS6-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMSB10-
-
-
-
1Loss-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4-
-
-
-
1Loss-
TMUB1-
-
-
-
1Loss-
TMUB2-
-
-
-
3Gain-
TMX1-
-
-
-
1Loss-
TMX2-
-
-
-
3Gain-
TMX2-CTNND1-
-
-
-
3Gain-
TMX3-
-
-
-
6Amp-
TMX4-
-
-
-
3Gain-
TNC-
-
-
-
3Gain-
TNFAIP1-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP6-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
6Amp-
TNFRSF11B-
-
-
-
4Gain-
TNFRSF13B-
-
-
-
3Gain-
TNFRSF14-
-
-
-
3Gain-
TNFRSF17-
-
-
-
1Loss-
TNFRSF18-
-
-
-
3Gain-
TNFRSF19-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFSF10-
-
-
-
0Del-
TNFSF11-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF14-
-
-
-
3Gain-
TNFSF15-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNFSF9-
-
-
-
3Gain-
TNIK-
-
-
-
0Del-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
0Del-
TNKS-
-
-
-
3Gain-
TNKS1BP1-
-
-
-
3Gain-
TNKS2-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC2-
-
-
-
3Gain-
TNNI1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNI3K-
-
-
-
3Gain-
TNNT1-
-
-
-
1Loss-
TNNT2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNP2-
-
-
-
1Loss-
TNPO3-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
1Loss-
TNRC6A-
-
-
-
1Loss-
TNRC6C-
-
-
-
3Gain-
TNS1-
-
-
-
1Loss-
TNS2-
-
-
-
3Gain-
TNS3-
-
-
-
1Loss-
TNS4-
-
-
-
3Gain-
TOB1-
-
-
-
3Gain-
TOE1-
-
-
-
3Gain-
TOGARAM1-
-
-
-
8Amp-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM20L-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM40-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
3Gain-
TOMM7-
-
-
-
1Loss-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
1Loss-
TOP2A-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
3Gain-
TOP3B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
1Loss-
TOPORSp.G960Wfs*8
Frame_Shift_Ins
INS
0.330
3Gain-
TOR1A-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
5Amp-
TOX2-
-
-
-
3Gain-
TOX3-
-
-
-
3Gain-
TOX4-
-
-
-
3Gain-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
3Gain-
TP53BP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53I11-
-
-
-
1Loss-
TP53I13-
-
-
-
3Gain-
TP53INP1-
-
-
-
6Amp-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP63-
-
-
-
0Del-
TP73-
-
-
-
3Gain-
TPBGL-
-
-
-
3Gain-
TPCN1-
-
-
-
3Gain-
TPCN2-
-
-
-
3Gain-
TPD52-
-
-
-
6Amp-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
6Amp-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
1Loss-
TPK1-
-
-
-
1Loss-
TPM1-
-
-
-
3Gain-
TPM2-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPM4-
-
-
-
3Gain-
TPO-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP-
-
-
-
5Amp-
TPPP2-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
5Amp-
TPRA1p.Y84*
Nonsense
SNP
0.648
2--
TPRG1-
-
-
-
0Del-
TPRG1L-
-
-
-
3Gain-
TPRX1-
-
-
-
1Loss-
TPST1-
-
-
-
1Loss-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
3Gain-
TPTE-
-
-
-
3Gain-
TPTE2-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TPX2-
-
-
-
1Loss-
TRA2A-
-
-
-
1Loss-
TRA2B-
-
-
-
0Del-
TRABD2A-
-
-
-
1Loss-
TRABD2B-
-
-
-
3Gain-
TRADD-
-
-
-
1Loss-
TRAF1-
-
-
-
3Gain-
TRAF3-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
1Loss-
TRAF4-
-
-
-
3Gain-
TRAF5-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAFD1-
-
-
-
3Gain-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM1-
-
-
-
5Amp-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
3Gain-
TRAPPC11-
-
-
-
1Loss-
TRAPPC12-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC4-
-
-
-
3Gain-
TRAPPC5-
-
-
-
3Gain-
TRAPPC6A-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
10Amp-
TRAPPC8-
-
-
-
6Amp-
TRAPPC9-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRDMT1-
-
-
-
3Gain-
TRDV1-
-
-
-
3Gain-
TREH-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRHR-
-
-
-
4Gain-
TRIAP1-
-
-
-
3Gain-
TRIB1-
-
-
-
4Gain-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
1Loss-
TRIM10p.L192M
Missense
SNP
1.000
2--
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM14-
-
-
-
3Gain-
TRIM16-
-
-
-
3Gain-
TRIM16L-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM24-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM32-
-
-
-
3Gain-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
3Gain-
TRIM37-
-
-
-
3Gain-
TRIM4-
-
-
-
1Loss-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM45-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM47-
-
-
-
3Gain-
TRIM49-
-
-
-
3Gain-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
3Gain-
TRIM49D1-
-
-
-
3Gain-
TRIM49D2-
-
-
-
3Gain-
TRIM5-
-
-
-
1Loss-
TRIM50-
-
-
-
1Loss-
TRIM51-
-
-
-
3Gain-
TRIM51GP-
-
-
-
1Loss-
TRIM55-
-
-
-
5Amp-
TRIM56-
-
-
-
1Loss-
TRIM58-
-
-
-
5Amp-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM64B-
-
-
-
3Gain-
TRIM64C-
-
-
-
1Loss-
TRIM65-
-
-
-
3Gain-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIM72-
-
-
-
1Loss-
TRIM73-
-
-
-
1Loss-
TRIM74-
-
-
-
1Loss-
TRIM77p.V198L
Missense
SNP
0.453
3Gain-
TRIM8-
-
-
-
1Loss-
TRIM9p.Q40R
Missense
MNP
0.967
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
5Amp-
TRIOBP-
-
-
-
1Loss-
TRIP10-
-
-
-
3Gain-
TRIP11-
-
-
-
1Loss-
TRIP12-
-
-
-
1Loss-
TRIP13-
-
-
-
5Amp-
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
1Loss-
TRIQK-
-
-
-
6Amp-
TRIT1-
-
-
-
3Gain-
TRMOp.S193C
Missense
SNP
0.427
3Gain-
TRMT1-
-
-
-
3Gain-
TRMT10B-
-
-
-
3Gain-
TRMT112-
-
-
-
3Gain-
TRMT12-
-
-
-
4Gain-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
3Gain-
TRMT5-
-
-
-
1Loss-
TRMT6-
-
-
-
3Gain-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
3Gain-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRNT1-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TROVE2-
-
-
-
1Loss-
TRPA1-
-
-
-
5Amp-
TRPC4-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPC6-
-
-
-
3Gain-
TRPM1-
-
-
-
1Loss-
TRPM2-
-
-
-
3Gain-
TRPM3-
-
-
-
3Gain-
TRPM4-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM6p.R38I
Missense
SNP
0.531
3Gain-
TRPM7-
-
-
-
3Gain-
TRPS1-
-
-
-
4Gain-
TRPT1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
3Gain-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
3Gain-
TRPV5-
-
-
-
1Loss-
TRPV6-
-
-
-
1Loss-
TRRAP-
-
-
-
1Loss-
TRUB1-
-
-
-
1Loss-
TRUB2-
-
-
-
3Gain-
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
3Gain-
TSC22D2p.P274A
Missense
SNP
0.636
2--
TSC22D4-
-
-
-
1Loss-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSEN34-
-
-
-
1Loss-
TSEN54-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSG101-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSGA10IP-
-
-
-
3Gain-
TSGA13-
-
-
-
1Loss-
TSHB-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ1p.D709V
Missense
SNP
0.760
6Amp-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
1Loss-
TSKS-
-
-
-
1Loss-
TSKU-
-
-
-
3Gain-
TSN-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN1-
-
-
-
3Gain-
TSPAN10-
-
-
-
3Gain-
TSPAN12-
-
-
-
1Loss-
TSPAN13-
-
-
-
1Loss-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN16-
-
-
-
3Gain-
TSPAN18-
-
-
-
1Loss-
TSPAN19-
-
-
-
3Gain-
TSPAN2-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN31-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN8p.W161L
Missense
SNP
0.517
3Gain-
TSPAN9-
-
-
-
1Loss-
TSPEAR-
-
-
-
3Gain-
TSPOAP1-
-
-
-
3Gain-
TSPYL5-
-
-
-
6Amp-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK2-
-
-
-
3Gain-
TSSK4-
-
-
-
1Loss-
TSSK6-
-
-
-
3Gain-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC12-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC14-
-
-
-
0Del-
TTC16-
-
-
-
3Gain-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
3Gain-
TTC21A-
-
-
-
1Loss-
TTC22-
-
-
-
3Gain-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
5Amp-
TTC24-
-
-
-
3Gain-
TTC25-
-
-
-
3Gain-
TTC26-
-
-
-
1Loss-
TTC28-
-
-
-
1Loss-
TTC3-
-
-
-
3Gain-
TTC31-
-
-
-
1Loss-
TTC33-
-
-
-
5Amp-
TTC34-
-
-
-
3Gain-
TTC36-
-
-
-
3Gain-
TTC39A-
-
-
-
3Gain-
TTC39B-
-
-
-
3Gain-
TTC39C-
-
-
-
6Amp-
TTC4-
-
-
-
3Gain-
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
15Amp-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTC9B-
-
-
-
1Loss-
TTC9C-
-
-
-
3Gain-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
3Gain-
TTL-
-
-
-
1Loss-
TTLL10-
-
-
-
3Gain-
TTLL11-
-
-
-
3Gain-
TTLL3-
-
-
-
3Gain-
TTLL4-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTLL6-
-
-
-
3Gain-
TTLL7-
-
-
-
3Gain-
TTLL9-
-
-
-
1Loss-
TTNp.W18600R
p.I8652T
Missense
Missense
SNP
SNP
1.000
1.000
2--
TTPA-
-
-
-
5Amp-
TTPAL-
-
-
-
3Gain-
TTR-
-
-
-
6Amp-
TTYH1-
-
-
-
1Loss-
TTYH2-
-
-
-
3Gain-
TTYH3-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TUBA3C-
-
-
-
3Gain-
TUBA3D-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBA8-
-
-
-
3Gain-
TUBAL3-
-
-
-
3Gain-
TUBB1-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
3Gain-
TUBB6-
-
-
-
1Loss-
TUBB8-
-
-
-
3Gain-
TUBB8P12-
-
-
-
1Loss-
TUBD1-
-
-
-
3Gain-
TUBG1-
-
-
-
3Gain-
TUBG2-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP2-
-
-
-
1Loss-
TULP3-
-
-
-
1Loss-
TUSC1-
-
-
-
3Gain-
TUSC3-
-
-
-
3Gain-
TUT1-
-
-
-
3Gain-
TUT4-
-
-
-
3Gain-
TUT7-
-
-
-
3Gain-
TVP23A-
-
-
-
1Loss-
TVP23B-
-
-
-
3Gain-
TVP23C-
-
-
-
3Gain-
TVP23C-CDRT4-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TWIST1-
-
-
-
1Loss-
TWISTNB-
-
-
-
1Loss-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXLNA-
-
-
-
1Loss-
TXN-
-
-
-
3Gain-
TXN2-
-
-
-
1Loss-
TXNDC11-
-
-
-
1Loss-
TXNDC12-
-
-
-
3Gain-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNDC9-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
6Amp-
TXNL4A-
-
-
-
6Amp-
TXNL4B-
-
-
-
1Loss-
TXNRD1-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TYK2-
-
-
-
5Amp-
TYMS-
-
-
-
1Loss-
TYR-
-
-
-
3Gain-
TYRO3-
-
-
-
1Loss-
TYROBP-
-
-
-
1Loss-
TYRP1-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
1Loss-
TYW1B-
-
-
-
1Loss-
TYW3-
-
-
-
3Gain-
TYW5-
-
-
-
1Loss-
U2AF1-
-
-
-
3Gain-
U2AF1L4-
-
-
-
1Loss-
U2AF1L5-
-
-
-
3Gain-
U2AF2-
-
-
-
1Loss-
UACA-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBA2-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBAP1p.S406Y
Missense
SNP
0.455
3Gain-
UBAP1L-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
3Gain-
UBASH3B-
-
-
-
3Gain-
UBB-
-
-
-
3Gain-
UBC-
-
-
-
3Gain-
UBE2C-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2D4-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
1LossRNA5-8SN2--UBE2E3
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2H-
-
-
-
1Loss-
UBE2J2-
-
-
-
3Gain-
UBE2K-
-
-
-
1Loss-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
3Gain-
UBE2M-
-
-
-
1Loss-
UBE2N-
-
-
-
3Gain-
UBE2O-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2QL1-
-
-
-
5Amp-
UBE2R2-
-
-
-
3Gain-
UBE2S-
-
-
-
1Loss-
UBE2T-
-
-
-
1Loss-
UBE2U-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
1Loss-
UBE2W-
-
-
-
5Amp-
UBE2Z-
-
-
-
3Gain-
UBE3A-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UBE3C-
-
-
-
1Loss-
UBE4A-
-
-
-
3Gain-
UBFD1-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
3Gain-
UBL4B-
-
-
-
1Loss-
UBL5-
-
-
-
5Amp-
UBL7-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBN2-
-
-
-
1Loss-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBR5p.R797K
Missense
SNP
0.078
4Gain-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTF-
-
-
-
3Gain-
UBTFL1-
-
-
-
3Gain-
UBXN1-
-
-
-
3Gain-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2B-
-
-
-
5Amp-
UBXN4-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UBXN7-
-
-
-
0Del-
UBXN8-
-
-
-
3Gain-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCHL5-
-
-
-
1Loss-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UCP2-
-
-
-
3Gain-
UCP3-
-
-
-
3Gain-
UEVLD-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UFSP1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGCG-
-
-
-
3Gain-
UGDH-
-
-
-
1Loss-
UGGT1-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT2A1p.V262I
Missense
SNP
0.782
2--
UGT3A1-
-
-
-
5Amp-
UGT3A2-
-
-
-
5Amp-
UHMK1-
-
-
-
3Gain-
UHRF1-
-
-
-
3Gain-
UHRF1BP1L-
-
-
-
3Gain-
UHRF2-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
ULK2-
-
-
-
3Gain-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
1Loss-
UMOD-
-
-
-
1Loss-
UMODL1-
-
-
-
3Gain-
UNC119-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC13A-
-
-
-
3Gain-
UNC13B-
-
-
-
3Gain-
UNC13C-
-
-
-
3Gain-
UNC13D-
-
-
-
3Gain-
UNC45B-
-
-
-
3Gain-
UNC50-
-
-
-
3Gain-
UNC5Ap.T701N
Missense
SNP
0.996
2--
UNC5B-
-
-
-
1Loss-
UNC5C-
-
-
-
3Gain-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC80-
-
-
-
1Loss-
UNC93Ap.C406*
Nonsense
SNP
0.229
2--
UNC93B1-
-
-
-
3Gain-
UNCX-
-
-
-
1Loss-
UNG-
-
-
-
3Gain-
UNK-
-
-
-
3Gain-
UPB1-
-
-
-
3Gain-
UPF1-
-
-
-
3Gain-
UPF2-
-
-
-
3Gain-
UPF3A-
-
-
-
1Loss-
UPK1A-
-
-
-
1Loss-
UPK2-
-
-
-
3Gain-
UPK3B-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
1Loss-
UPP2-
-
-
-
1Loss-
UQCC1-
-
-
-
3Gain-
UQCC3-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRB-
-
-
-
6Amp-
UQCRC2-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
1Loss-
URAD-
-
-
-
3Gain-
URB1-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
1Loss-
URGCP-MRPS24-
-
-
-
1Loss-
URI1-
-
-
-
1Loss-
URM1-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USB1-
-
-
-
3Gain-
USE1-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USF2-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USH1G-
-
-
-
3Gain-
USH2Ap.P3025T
Missense
SNP
0.968
1Loss-
USHBP1-
-
-
-
3Gain-
USP1-
-
-
-
3Gain-
USP10-
-
-
-
1Loss-
USP12-
-
-
-
3Gain-
USP13-
-
-
-
0Del-
USP14-
-
-
-
1Loss-
USP15-
-
-
-
3Gain-
USP16-
-
-
-
3Gain-
USP17L7-
-
-
-
3Gain-
USP18-
-
-
-
3Gain-
USP2-
-
-
-
3Gain-
USP20-
-
-
-
3Gain-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
3Gain-
USP24-
-
-
-
3Gain-
USP25-
-
-
-
3Gain-
USP28-
-
-
-
3Gain-
USP29p.G45E
Missense
SNP
0.440
1Loss-
USP3-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP31-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP35-
-
-
-
3Gain-
USP36-
-
-
-
3Gain-
USP37-
-
-
-
1Loss-
USP39-
-
-
-
1Loss-
USP41-
-
-
-
3Gain-
USP42-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
3Gain-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
USP50-
-
-
-
3Gain-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
3Gain-
USP7-
-
-
-
1Loss-
USP8-
-
-
-
3Gain-
USPL1-
-
-
-
3Gain-
UTF1-
-
-
-
1Loss-
UTP11-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP18-
-
-
-
3Gain-
UTP20-
-
-
-
3Gain-
UTP23-
-
-
-
4Gain-
UTP25-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTP6-
-
-
-
3Gain-
UTS2B-
-
-
-
0Del-
UTS2R-
-
-
-
3Gain-
UVRAG-
-
-
-
3Gain-
UXS1-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VAMP5-
-
-
-
1Loss-
VAMP8-
-
-
-
1Loss-
VANGL1-
-
-
-
1Loss-
VANGL2-
-
-
-
3Gain-
VAPA-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VASH2-
-
-
-
1Loss-
VASN-
-
-
-
1Loss-
VASP-
-
-
-
1Loss-
VAT1-
-
-
-
3Gain-
VAT1L-
-
-
-
1Loss-
VAV1-
-
-
-
3Gain-
VAV3-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCP-
-
-
-
3Gain-
VCPIP1-
-
-
-
5Amp-
VCPKMT-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VDR-
-
-
-
3Gain-
VEGFB-
-
-
-
3Gain-
VENTX-
-
-
-
1Loss-
VEZF1-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VGF-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIMp.R10L
Missense
SNP
0.269
3Gain-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIPR2-
-
-
-
1Loss-
VIRMA-
-
-
-
6Amp-
VKORC1-
-
-
-
1Loss-
VKORC1L1-
-
-
-
1Loss-
VLDLR-
-
-
-
3Gain-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VOPP1-
-
-
-
1Loss-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
3Gain-
VPS13A-
-
-
-
3Gain-
VPS13B-
-
-
-
6Amp-
VPS13C-
-
-
-
3Gain-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS25-
-
-
-
3Gain-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
3Gain-
VPS26C-
-
-
-
3Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37Ap.R333I
Missense
SNP
0.400
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37C-
-
-
-
3Gain-
VPS37D-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
6Amp-
VPS50-
-
-
-
1Loss-
VPS51-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
0Del-
VPS9D1-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10-
-
-
-
3Gain-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
3Gain-
VSIG2-
-
-
-
3Gain-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM1-
-
-
-
1Loss-
VSTM2A-
-
-
-
1Loss-
VSTM2B-
-
-
-
1Loss-
VSTM2L-
-
-
-
3Gain-
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
3Gain-
VSX1-
-
-
-
3Gain-
VSX2-
-
-
-
1Loss-
VTCN1-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VTN-
-
-
-
3Gain-
VWA1-
-
-
-
3Gain-
VWA2-
-
-
-
1Loss-
VWA3A-
-
-
-
1Loss-
VWA3B-
-
-
-
3Gain-
VWA5A-
-
-
-
3Gain-
VWA5B1-
-
-
-
1Loss-
VWA5B2-
-
-
-
0Del-
VWA8-
-
-
-
3Gain-
VWC2-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWCE-
-
-
-
3Gain-
VWDE-
-
-
-
1Loss-
VWF-
-
-
-
1Loss-
VXN-
-
-
-
5Amp-
WAC-
-
-
-
3Gain-
WAPL-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
3Gain-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WASHC5-
-
-
-
4Gain-
WASL-
-
-
-
1Loss-
WBP1-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR33-
-
-
-
1Loss-
WDR34-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR38-
-
-
-
3Gain-
WDR4-
-
-
-
3Gain-
WDR45B-
-
-
-
3Gain-
WDR47-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
0Del-
WDR53-
-
-
-
0Del-
WDR54-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR62-
-
-
-
1Loss-
WDR63-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR7-
-
-
-
6Amp-
WDR70p.M25I
Missense
SNP
0.316
5Amp-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
1Loss-
WDR74-
-
-
-
3Gain-
WDR75-
-
-
-
1Loss-
WDR76-
-
-
-
3Gain-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR86-
-
-
-
1Loss-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WDR91-
-
-
-
1Loss-
WDR97-
-
-
-
1Loss-
WDSUB1-
-
-
-
1Loss-
WDTC1-
-
-
-
1Loss-
WDYHV1-
-
-
-
4Gain-
WEE1-
-
-
-
1Loss-
WEE2-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WFIKKN2-
-
-
-
3Gain-
WHAMM-
-
-
-
1Loss-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WIPF2-
-
-
-
3Gain-
WIPF3-
-
-
-
1Loss-
WIPI1-
-
-
-
3Gain-
WIPI2-
-
-
-
1Loss-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WIZ-
-
-
-
3Gain-
WLS-
-
-
-
3Gain-
WNK1-
-
-
-
1Loss-
WNK2-
-
-
-
3Gain-
WNK4-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10A-
-
-
-
1Loss-
WNT10B-
-
-
-
3Gain-
WNT11-
-
-
-
3Gain-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT2B-
-
-
-
1Loss-
WNT3-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
1Loss-
WNT5B-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
3Gain-
WNT8B-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WNT9B-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
3Gain-
WRB-
-
-
-
3Gain-
WRB-SH3BGR-
-
-
-
3Gain-
WRN-
-
-
-
3Gain-
WRNIP1p.K482N;p.E483*
Nonsense
MNP
1.000
2--
WSB1-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD1-
-
-
-
1Loss-
WSCD2p.X228_splice
Splice_Site
SNP
0.562
3Gain-
WT1-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP1-
-
-
-
6AmpWWP1--ATP6V0D2
WWP2-
-
-
-
1Loss-
XAB2-
-
-
-
3Gain-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XIRP1-
-
-
-
1Loss-
XKR3-
-
-
-
3Gain-
XKR4-
-
-
-
5Amp-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR7-
-
-
-
1Loss-
XKR8-
-
-
-
1Loss-
XKR9-
-
-
-
5Amp-
XPA-
-
-
-
3Gain-
XPC-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPNPEP2p.V45I
Missense
SNP
1.000
NDND-
XPO4-
-
-
-
3Gain-
XPO6-
-
-
-
1Loss-
XPO7p.E12Q
Missense
SNP
0.552
3Gain-
XPOT-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
XRCC2-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XRN2-
-
-
-
3Gain-
XRRA1-
-
-
-
3Gain-
XXYLT1-
-
-
-
0Del-
XYLB-
-
-
-
1Loss-
XYLT1-
-
-
-
1Loss-
XYLT2-
-
-
-
3Gain-
YAE1-
-
-
-
1Loss-
YAF2-
-
-
-
3Gain-
YAP1-
-
-
-
3Gain-
YBEY-
-
-
-
3Gain-
YBX1-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YEATS2-
-
-
-
0Del-
YEATS4-
-
-
-
3Gain-
YES1-
-
-
-
1Loss-
YIF1A-
-
-
-
3Gain-
YIF1B-
-
-
-
1Loss-
YIPF1-
-
-
-
3Gain-
YIPF2-
-
-
-
5Amp-
YJEFN3-
-
-
-
3Gain-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YME1L1-
-
-
-
3Gain-
YOD1-
-
-
-
1Loss-
YPEL1-
-
-
-
3Gain-
YPEL2-
-
-
-
3Gain-
YPEL3-
-
-
-
1Loss-
YPEL4-
-
-
-
3Gain-
YRDC-
-
-
-
3Gain-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
5Amp-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
4Gain-
YY1-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZACN-
-
-
-
3Gain-
ZADH2-
-
-
-
6Amp-
ZAN-
-
-
-
1Loss-
ZAP70-
-
-
-
3Gain-
ZAR1L-
-
-
-
3Gain-
ZBBX-
-
-
-
0Del-
ZBED5-
-
-
-
1Loss-
ZBED6-
-
-
-
1Loss-
ZBED6CL-
-
-
-
1Loss-
ZBP1-
-
-
-
3Gain-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
6Amp-
ZBTB14-
-
-
-
1Loss-
ZBTB16-
-
-
-
3Gain-
ZBTB17-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB21-
-
-
-
3Gain-
ZBTB25-
-
-
-
1Loss-
ZBTB26-
-
-
-
3Gain-
ZBTB3-
-
-
-
3Gain-
ZBTB32-
-
-
-
1Loss-
ZBTB34-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB41-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB43-
-
-
-
3Gain-
ZBTB44-
-
-
-
3Gain-
ZBTB45-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
3Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
3Gain-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
6Amp-
ZC2HC1A-
-
-
-
6Amp-
ZC2HC1C-
-
-
-
1Loss-
ZC3H10-
-
-
-
3Gain-
ZC3H11A-
-
-
-
1Loss-
ZC3H12A-
-
-
-
3Gain-
ZC3H12Bp.S44I
Missense
SNP
1.000
NDND-
ZC3H12C-
-
-
-
3Gain-
ZC3H13-
-
-
-
3Gain-
ZC3H14-
-
-
-
1Loss-
ZC3H15-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
1Loss-
ZC3H4p.R83L
Missense
SNP
1.000
1Loss-
ZC3H6-
-
-
-
1Loss-
ZC3H7Ap.E233Q
Missense
SNP
1.000
1Loss-
ZC3H8-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
1Loss-
ZC3HAV1L-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC2-
-
-
-
6Amp-
ZCCHC24-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC7-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZCWPW1-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC11-
-
-
-
5Amp-
ZDHHC11B-
-
-
-
5Amp-
ZDHHC12-
-
-
-
3Gain-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC18-
-
-
-
1Loss-
ZDHHC19-
-
-
-
0Del-
ZDHHC2-
-
-
-
3Gain-
ZDHHC20-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC22-
-
-
-
1Loss-
ZDHHC24-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
1Loss-
ZDHHC5-
-
-
-
3Gain-
ZDHHC6-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZEB1-
-
-
-
3Gain-
ZEB2-
-
-
-
1Loss-
ZER1-
-
-
-
3Gain-
ZFAND1-
-
-
-
6Amp-
ZFAND2A-
-
-
-
1Loss-
ZFAND2B-
-
-
-
1Loss-
ZFAND4-
-
-
-
1Loss-
ZFAND5-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFAT-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFHX2-
-
-
-
3Gain-
ZFHX3p.X1073_splice
Splice_Site
DEL
1.000
1Loss-
ZFHX4-
-
-
-
5Amp-
ZFP1-
-
-
-
1Loss-
ZFP14-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP36-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP37-
-
-
-
3Gain-
ZFP41-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP64-
-
-
-
3Gain-
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP82-
-
-
-
1Loss-
ZFP90p.D454N
Missense
SNP
1.000
1Loss-
ZFP91-
-
-
-
3Gain-
ZFP91-CNTF-
-
-
-
3Gain-
ZFP92p.T80N
Missense
SNP
1.000
NDND-
ZFPL1-
-
-
-
3Gain-
ZFPM1-
-
-
-
1Loss-
ZFPM2-
-
-
-
4Gain-
ZFR-
-
-
-
5Amp-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE9-
-
-
-
3Gain-
ZG16-
-
-
-
1Loss-
ZGLP1-
-
-
-
5Amp-
ZGPAT-
-
-
-
3Gain-
ZGRF1p.D1380N
Missense
SNP
0.311
2--
ZHX1-
-
-
-
4Gain-
ZHX1-C8orf76-
-
-
-
4Gain-
ZHX2-
-
-
-
4Gain-
ZHX3-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN1-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT3-
-
-
-
0Del-
ZMAT4-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMIZ1-
-
-
-
1Loss-
ZMIZ2-
-
-
-
1Loss-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1p.V907L
Missense
SNP
1.000
2--
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND11-
-
-
-
3Gain-
ZMYND12-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF10-
-
-
-
3Gain-
ZNF100-
-
-
-
1LossZNF100--AKAP10
ZNF101-
-
-
-
5Amp-
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
1Loss-
ZNF112-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF12-
-
-
-
1Loss-
ZNF121-
-
-
-
3Gain-
ZNF124-
-
-
-
5Amp-
ZNF131-
-
-
-
5Amp-
ZNF132-
-
-
-
1Loss-
ZNF133-
-
-
-
3Gain-
ZNF134-
-
-
-
1Loss-
ZNF135p.S587Y
Missense
SNP
1.000
1Loss-
ZNF136-
-
-
-
3Gain-
ZNF138-
-
-
-
1Loss-
ZNF14p.K79R
Missense
SNP
0.256
5Amp-
ZNF140-
-
-
-
3Gain-
ZNF142-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF146-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF169-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
3Gain-
ZNF18-
-
-
-
3Gain-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF189-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF2-
-
-
-
1Loss-
ZNF202-
-
-
-
3Gain-
ZNF207-
-
-
-
1Loss-
ZNF208p.H1051Q
Missense
SNP
0.450
3Gain-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
ZNF219-
-
-
-
3Gain-
ZNF22-
-
-
-
1Loss-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234p.T507A
Missense
SNP
1.000
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF236-
-
-
-
6Amp-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
6Amp-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF260-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
3Gain-
ZNF267-
-
-
-
1Loss-
ZNF268-
-
-
-
3Gain-
ZNF273-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF275p.K192N
Missense
SNP
0.989
NDND-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF281-
-
-
-
1Loss-
ZNF282-
-
-
-
1Loss-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF286A-
-
-
-
3Gain-
ZNF286B-
-
-
-
3Gain-
ZNF287-
-
-
-
3Gain-
ZNF296-
-
-
-
1Loss-
ZNF3-
-
-
-
1Loss-
ZNF30-
-
-
-
1Loss-
ZNF302-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
1Loss-
ZNF317-
-
-
-
3Gain-
ZNF319-
-
-
-
3Gain-
ZNF32-
-
-
-
1Loss-
ZNF320-
-
-
-
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF326-
-
-
-
3Gain-
ZNF329-
-
-
-
1Loss-
ZNF331-
-
-
-
1Loss-
ZNF333-
-
-
-
3Gain-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF337-
-
-
-
3Gain-
ZNF33A-
-
-
-
3Gain-
ZNF33B-
-
-
-
1Loss-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF345-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF358-
-
-
-
3Gain-
ZNF365-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF37A-
-
-
-
3Gain-
ZNF382-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF384-
-
-
-
1Loss-
ZNF385A-
-
-
-
3Gain-
ZNF385B-
-
-
-
1Loss-
ZNF385C-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF394-
-
-
-
1Loss-
ZNF395-
-
-
-
3Gain-
ZNF396-
-
-
-
6Amp-
ZNF397-
-
-
-
6Amp-
ZNF398-
-
-
-
1Loss-
ZNF404-
-
-
-
1Loss-
ZNF407-
-
-
-
6Amp-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF414-
-
-
-
5Amp-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
1Loss-
ZNF426p.H487Q
Missense
SNP
0.569
3Gain-
ZNF428-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43p.I32F
Missense
SNP
0.503
3Gain-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF433-
-
-
-
3Gain-
ZNF436-
-
-
-
1Loss-
ZNF438-
-
-
-
3Gain-
ZNF439-
-
-
-
3Gain-
ZNF44-
-
-
-
3Gain-
ZNF440-
-
-
-
3Gain-
ZNF441-
-
-
-
3Gain-
ZNF442-
-
-
-
3Gain-
ZNF444-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
1Loss-
ZNF462-
-
-
-
3Gain-
ZNF467-
-
-
-
1Loss-
ZNF468-
-
-
-
1Loss-
ZNF469-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF473-
-
-
-
1Loss-
ZNF479p.E100G
Missense
SNP
1.000
1Loss-
ZNF48-
-
-
-
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF485p.K221Q
Missense
SNP
1.000
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF491-
-
-
-
3Gain-
ZNF492-
-
-
-
3Gain-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
5Amp-
ZNF497-
-
-
-
1Loss-
ZNF500-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF503-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF507-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF514-
-
-
-
1Loss-
ZNF516-
-
-
-
6Amp-
ZNF518A-
-
-
-
1Loss-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
6Amp-
ZNF524-
-
-
-
1Loss-
ZNF525-
-
-
-
1Loss-
ZNF526p.R352L
Missense
SNP
0.996
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF529-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
6Amp-
ZNF534-
-
-
-
1Loss-
ZNF536p.E1151Rfs*5
Frame_Shift_Ins
INS
0.481
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF541-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF546-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
3Gain-
ZNF558-
-
-
-
5Amp-
ZNF559-
-
-
-
3Gain-
ZNF559-ZNF177-
-
-
-
3Gain-
ZNF560-
-
-
-
3Gain-
ZNF561-
-
-
-
3Gain-
ZNF562-
-
-
-
3Gain-
ZNF563-
-
-
-
3Gain-
ZNF565-
-
-
-
1Loss-
ZNF566-
-
-
-
1Loss-
ZNF567-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF572-
-
-
-
4Gain-
ZNF573-
-
-
-
1Loss-
ZNF574-
-
-
-
1Loss-
ZNF575-
-
-
-
1Loss-
ZNF576-
-
-
-
1Loss-
ZNF577-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF579-
-
-
-
1Loss-
ZNF580-
-
-
-
1Loss-
ZNF581-
-
-
-
1Loss-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF596-
-
-
-
3Gain-
ZNF599-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF605-
-
-
-
3Gain-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF609-
-
-
-
3Gain-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF618-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
5Amp-
ZNF623-
-
-
-
1Loss-
ZNF624-
-
-
-
3Gain-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
3Gain-
ZNF628-
-
-
-
1Loss-
ZNF629-
-
-
-
1Loss-
ZNF639-
-
-
-
0Del-
ZNF641-
-
-
-
3Gain-
ZNF646-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF649-
-
-
-
1Loss-
ZNF652-
-
-
-
3Gain-
ZNF653-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF655-
-
-
-
1Loss-
ZNF658-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF664-
-
-
-
3Gain-
ZNF665-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF668-
-
-
-
1Loss-
ZNF669-
-
-
-
5Amp-
ZNF670-
-
-
-
5Amp-
ZNF670-ZNF695-
-
-
-
5Amp-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
5Amp-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
3Gain-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
1Loss-
ZNF680-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF684-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF69-
-
-
-
3Gain-
ZNF691-
-
-
-
3Gain-
ZNF692-
-
-
-
5Amp-
ZNF695-
-
-
-
5Amp-
ZNF696-
-
-
-
1Loss-
ZNF697-
-
-
-
1Loss-
ZNF699-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF700-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
6Amp-
ZNF706-
-
-
-
4Gain-
ZNF707-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF71-
-
-
-
1Loss-
ZNF713-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF716-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF720-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
1Loss-
ZNF732p.E394V
Missense
SNP
0.359
2--
ZNF735-
-
-
-
1Loss-
ZNF736-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF74p.G282C
Missense
SNP
0.481
3Gain-
ZNF740-
-
-
-
3Gain-
ZNF746-
-
-
-
1Loss-
ZNF747-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF750-
-
-
-
3Gain-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
3Gain-
ZNF764-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766p.R165W
Missense
SNP
1.000
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF770-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF775-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
1Loss-
ZNF778-
-
-
-
1Loss-
ZNF780A-
-
-
-
1Loss-
ZNF780B-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF782-
-
-
-
3Gain-
ZNF783-
-
-
-
1Loss-
ZNF784-
-
-
-
1Loss-
ZNF785-
-
-
-
1Loss-
ZNF786-
-
-
-
1Loss-
ZNF787-
-
-
-
1Loss-
ZNF789-
-
-
-
1Loss-
ZNF79-
-
-
-
3Gain-
ZNF790-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF800-
-
-
-
1Loss-
ZNF804A-
-
-
-
1Loss-
ZNF804B-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF823-
-
-
-
3Gain-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF830-
-
-
-
3Gain-
ZNF831p.R1388K
Missense
SNP
0.428
3Gain-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF839-
-
-
-
1Loss-
ZNF84-
-
-
-
3Gain-
ZNF841-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF844-
-
-
-
3Gain-
ZNF845-
-
-
-
1Loss-
ZNF846-
-
-
-
5Amp-
ZNF85-
-
-
-
1Loss-
ZNF850-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF862-
-
-
-
1Loss-
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
3Gain-
ZNF880-
-
-
-
1Loss-
ZNF883-
-
-
-
3Gain-
ZNF888-
-
-
-
1Loss-
ZNF891-
-
-
-
3Gain-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF92-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNHIT1-
-
-
-
1Loss-
ZNHIT2-
-
-
-
3Gain-
ZNHIT3-
-
-
-
3Gain-
ZNHIT6-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
1Loss-
ZNRF3-
-
-
-
1Loss-
ZNRF4-
-
-
-
3Gain-
ZP1-
-
-
-
3Gain-
ZP2-
-
-
-
1Loss-
ZP3-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
1Loss-
ZPBP2p.T120I
Missense
SNP
0.354
3Gain-
ZPR1-
-
-
-
3Gain-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
3Gain-
ZRANB3-
-
-
-
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN12p.V407L
Missense
SNP
0.989
2--
ZSCAN18-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN21-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN25-
-
-
-
1Loss-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
6Amp-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM1-
-
-
-
3Gain-
ZSWIM2-
-
-
-
1Loss-
ZSWIM3-
-
-
-
3Gain-
ZSWIM5-
-
-
-
3Gain-
ZSWIM7-
-
-
-
3Gain-
ZSWIM8-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZW10-
-
-
-
3Gain-
ZWILCH-
-
-
-
3Gain-
ZWINT-
-
-
-
1Loss-
ZYG11A-
-
-
-
3Gain-
ZYG11B-
-
-
-
3Gain-
ZYX-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-