PDMR-952719~076-R~P57-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A1CF-
-
-
-
1Loss-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AAGAB-
-
-
-
3Gain-
AAMDC-
-
-
-
3Gain-
AANAT-
-
-
-
3Gain-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AARSD1-
-
-
-
3Gain-
AASDH-
-
-
-
0Del-
AASDHPPT-
-
-
-
3Gain-
AATF-
-
-
-
3Gain-
AATK-
-
-
-
3Gain-
ABAT-
-
-
-
1Loss-
ABCA1-
-
-
-
3Gain-
ABCA10-
-
-
-
3Gain-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB5p.Q818K
Missense
SNP
1.000
2--
ABCB9-
-
-
-
3Gain-
ABCC1-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC3-
-
-
-
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
1Loss-
ABCC6-
-
-
-
1Loss-
ABCC8-
-
-
-
1Loss-
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCD4-
-
-
-
1Loss-
ABCF3-
-
-
-
1Loss-
ABCG1-
-
-
-
3Gain-
ABCG4-
-
-
-
3Gain-
ABHD12-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17B-
-
-
-
3Gain-
ABHD3-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABI3-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
1Loss-
ABTB2-
-
-
-
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-
AC004687.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC005324.3-
-
-
-
3Gain-
AC005324.4-
-
-
-
3Gain-
AC005520.1-
-
-
-
1Loss-
AC005670.2-
-
-
-
3Gain-
AC005697.1-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC005779.2-
-
-
-
1Loss-
AC005837.2-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC007192.1-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007375.1-
-
-
-
1Loss-
AC007731.5-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
6Amp-
AC008397.2-
-
-
-
3Gain-
AC008403.1-
-
-
-
1Loss-
AC008481.3-
-
-
-
3Gain-
AC008537.1-
-
-
-
1Loss-
AC008676.3-
-
-
-
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-
AC009133.6-
-
-
-
1Loss-
AC009690.1-
-
-
-
6Amp-
AC009690.3-
-
-
-
6Amp-
AC009879.2-
-
-
-
6Amp-
AC009879.3-
-
-
-
6Amp-
AC010197.2-
-
-
-
3Gain-
AC010255.3-
-
-
-
3Gain-
AC010319.2-
-
-
-
3Gain-
AC010323.1-
-
-
-
5Amp-
AC010327.1-
-
-
-
1Loss-
AC010463.1-
-
-
-
3Gain-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
3Gain-
AC011195.2-
-
-
-
3Gain-
AC011330.3-
-
-
-
3Gain-
AC011448.1-
-
-
-
3Gain-
AC011452.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
6Amp-
AC011511.4-
-
-
-
6Amp-
AC011530.1-
-
-
-
1Loss-
AC011604.2-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
6Amp-
AC012309.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
3Gain-
AC012618.3-
-
-
-
NDNDC19orf57--AC012618.3
AC015688.4-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC018512.1-
-
-
-
3Gain-
AC018554.3-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC020907.6-
-
-
-
1Loss-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC020922.1-
-
-
-
1Loss-
AC022335.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
3Gain-
AC022400.6-
-
-
-
1Loss-
AC022826.2-
-
-
-
6Amp-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026316.5-
-
-
-
1Loss-
AC026786.1-
-
-
-
3Gain-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
6Amp-
AC037459.1-
-
-
-
3Gain-
AC046185.1-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
3Gain-
AC058822.1-
-
-
-
3Gain-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068234.1-
-
-
-
3Gain-
AC068631.2-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC069257.3-
-
-
-
1Loss-
AC069368.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073508.2-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC079447.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087289.3-
-
-
-
3Gain-
AC087632.1-
-
-
-
3Gain-
AC090004.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
6Amp-
AC090360.1-
-
-
-
6Amp-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
3Gain-
AC091551.1-
-
-
-
6Amp-
AC092017.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC093155.3-
-
-
-
3Gain-
AC093227.2-
-
-
-
1Loss-
AC093423.3-
-
-
-
3Gain-
AC093512.2-
-
-
-
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-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC106886.5-
-
-
-
1Loss-
AC107871.1-
-
-
-
3Gain-
AC107959.5-
-
-
-
3Gain-
AC110275.1-
-
-
-
1Loss-
AC113554.1-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC117457.1-
-
-
-
1Loss-
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-
-
-
-
1Loss-
AC134669.1-
-
-
-
3Gain-
AC134980.3-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC137834.1-
-
-
-
3Gain-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC139530.2-
-
-
-
3Gain-
AC140504.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC243967.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
6Amp-
ACACA-
-
-
-
3Gain-
ACACBp.E694*
Nonsense
SNP
0.470
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD8-
-
-
-
3Gain-
ACADM-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
1Loss-
ACAP3-
-
-
-
3Gain-
ACAT1-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD4-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACE-
-
-
-
3Gain-
ACER2-
-
-
-
3Gain-
ACER3-
-
-
-
3Gain-
ACIN1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACLY-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT11-
-
-
-
3Gain-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT7-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACOX1-
-
-
-
3Gain-
ACOX2-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
3Gain-
ACP7-
-
-
-
1Loss-
ACRV1-
-
-
-
3Gain-
ACSF2-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2A-
-
-
-
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTA2p.T188S
Missense
SNP
1.000
1Loss-
ACTG1-
-
-
-
3Gain-
ACTL10-
-
-
-
3Gain-
ACTL6A-
-
-
-
1Loss-
ACTL7Ap.P236H
Missense
SNP
0.545
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL9-
-
-
-
5Amp-
ACTN1-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
3Gain-
ACTN4-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR1B-
-
-
-
3Gain-
ACTR5-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ACTRT2-
-
-
-
3Gain-
ACTRT3-
-
-
-
1Loss-
ACVR1B-
-
-
-
3Gain-
ACVR2B-
-
-
-
1Loss-
ACVRL1-
-
-
-
3Gain-
ACY3-
-
-
-
3Gain-
ACYP1-
-
-
-
1Loss-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADA2-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAM10-
-
-
-
3Gain-
ADAM11-
-
-
-
3Gain-
ADAM12-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM19p.G400C
Missense
SNP
1.000
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
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
0.355
6Amp-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
3Gain-
ADAMTS16-
-
-
-
6Amp-
ADAMTS17-
-
-
-
1Loss-
ADAMTS20p.N220K
Missense
SNP
0.494
3Gain-
ADAMTS5-
-
-
-
3Gain-
ADAMTS8-
-
-
-
3Gain-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL2p.L75V
Missense
SNP
0.595
2--
ADAP2-
-
-
-
3Gain-
ADARB1-
-
-
-
3Gain-
ADARB2-
-
-
-
3Gain-
ADCK1-
-
-
-
1Loss-
ADCY2-
-
-
-
6Amp-
ADCY4-
-
-
-
1Loss-
ADCY6-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADCY8p.V436F
Missense
SNP
1.000
3Gain-
ADCY9-
-
-
-
1Loss-
ADCYAP1-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRA3p.L1301F
Missense
SNP
0.390
2--
ADGRB1p.Q560H
Missense
SNP
1.000
2--
ADGRD1-
-
-
-
3Gain-
ADGRD2p.G950V
Missense
SNP
0.461
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
0.957
2--
ADHFE1-
-
-
-
6Amp-
ADIG-
-
-
-
3Gain-
ADIPOQ-
-
-
-
1Loss-
ADIPOR1-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM5-
-
-
-
1Loss-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
6Amp-
ADO-
-
-
-
1Loss-
ADORA1-
-
-
-
1Loss-
ADORA2A-
-
-
-
3Gain-
ADORA2B-
-
-
-
3Gain-
ADORA3-
-
-
-
1Loss-
ADPGK-
-
-
-
6Amp-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
3Gain-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRA2A-
-
-
-
1Loss-
ADRA2B-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AFAP1L1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF2p.D1101Y
Missense
SNP
0.979
NDND-
AFF3-
-
-
-
3Gain-
AFG3L2-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AGAp.D344Y
Missense
SNP
0.366
2--
AGAP2-
-
-
-
3Gain-
AGAP4-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL1p.T712S
Missense
SNP
1.000
2--
AGBL2-
-
-
-
1Loss-
AGBL4-
-
-
-
3Gain-
AGO1-
-
-
-
3Gain-
AGO3-
-
-
-
3Gain-
AGPAT3-
-
-
-
3Gain-
AGPAT5-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGT-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGXT2-
-
-
-
6Amp-
AHCTF1-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHCYL1-
-
-
-
1Loss-
AHNAK-
-
-
-
3Gain-
AHRR-
-
-
-
6Amp-
AHSA1-
-
-
-
1Loss-
AHSG-
-
-
-
1Loss-
AHSP-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AIFM3-
-
-
-
3Gain-
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
0.355
2--
AKAIN1-
-
-
-
1Loss-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
6AmpZNF100--AKAP10
AKAP11p.S893L
Missense
SNP
1.000
3Gain-
AKAP2-
-
-
-
3Gain-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
11Amp-
AKAP8-
-
-
-
3Gain-
AKAP8Lp.G119A
Missense
SNP
1.000
3Gain-
AKIP1-
-
-
-
1Loss-
AKIRIN1-
-
-
-
3Gain-
AKNA-
-
-
-
3Gain-
AKNAD1-
-
-
-
1Loss-
AKR1A1-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AKT1S1-
-
-
-
1Loss-
AKT2-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL035078.4-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
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-
AL139353.1-
-
-
-
11Amp-
AL157392.5-
-
-
-
3Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
3Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL358113.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445685.3-
-
-
-
3Gain-
AL449266.1-
-
-
-
1Loss-
AL451062.3-
-
-
-
3Gain-
AL512506.3-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
1Loss-
AL672043.1-
-
-
-
3Gain-
AL672142.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
1Loss-
ALAD-
-
-
-
3Gain-
ALDH16A1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
1Loss-
ALDH1B1p.A109Qfs*3
Frame_Shift_Del
DEL
0.460
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH3A1-
-
-
-
3Gain-
ALDH3A2-
-
-
-
3Gain-
ALDH3B1-
-
-
-
3Gain-
ALDH3B2-
-
-
-
3Gain-
ALDH6A1-
-
-
-
1Loss-
ALDH9A1p.V225L
Missense
SNP
0.370
2--
ALDOA-
-
-
-
1Loss-
ALDOB-
-
-
-
3Gain-
ALDOC-
-
-
-
3Gain-
ALG1-
-
-
-
1Loss-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALG2-
-
-
-
3Gain-
ALG3-
-
-
-
1Loss-
ALG5-
-
-
-
3Gain-
ALG6-
-
-
-
3Gain-
ALG8-
-
-
-
3Gain-
ALG9-
-
-
-
3Gain-
ALKAL1-
-
-
-
6Amp-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
3Gain-
ALKBH3-
-
-
-
1Loss-
ALKBH5-
-
-
-
3Gain-
ALKBH6-
-
-
-
1Loss-
ALKBH7-
-
-
-
3Gain-
ALKBH8-
-
-
-
3Gain-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOX5AP-
-
-
-
3Gain-
ALOXE3p.E268Sfs*22
Frame_Shift_Del
DEL
0.929
1Loss-
ALPK2-
-
-
-
6Amp-
ALX1-
-
-
-
3Gain-
ALX3-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
ALYREF-
-
-
-
3Gain-
AMACR-
-
-
-
6Amp-
AMBNp.P333Q
p.P349H
Missense
Missense
SNP
SNP
0.313
0.349
2--
AMBP-
-
-
-
3Gain-
AMBRA1-
-
-
-
1Loss-
AMDHD1-
-
-
-
3Gain-
AMFR-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO1-
-
-
-
1Loss-
AMIGO2-
-
-
-
3Gain-
AMOTL1-
-
-
-
3Gain-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMZ2-
-
-
-
3Gain-
ANAPC11-
-
-
-
3Gain-
ANAPC15-
-
-
-
3Gain-
ANAPC16-
-
-
-
1Loss-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
1Loss-
ANGEL2-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
3Gain-
ANGPT4-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANGPTL3-
-
-
-
3Gain-
ANGPTL4-
-
-
-
5Amp-
ANGPTL5p.T94A
Missense
SNP
0.469
3Gain-
ANGPTL6-
-
-
-
6Amp-
ANGPTL8-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANK1-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKDD1A-
-
-
-
3Gain-
ANKEF1-
-
-
-
3Gain-
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
6Amp-
ANKK1-
-
-
-
3Gain-
ANKLE1-
-
-
-
3Gain-
ANKLE2-
-
-
-
3Gain-
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-
ANKRD26p.K350N
Missense
SNP
0.401
3Gain-
ANKRD27-
-
-
-
1Loss-
ANKRD28-
-
-
-
3Gain-
ANKRD29-
-
-
-
6Amp-
ANKRD30A-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD33-
-
-
-
3Gain-
ANKRD33B-
-
-
-
6Amp-
ANKRD36-
-
-
-
3Gain-
ANKRD36B-
-
-
-
3Gain-
ANKRD36C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD39-
-
-
-
3Gain-
ANKRD40-
-
-
-
3Gain-
ANKRD42-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD49-
-
-
-
3Gain-
ANKRD52-
-
-
-
3Gain-
ANKRD60-
-
-
-
3Gain-
ANKRD62-
-
-
-
1Loss-
ANKRD65-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKS6-
-
-
-
3Gain-
ANO1-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO3p.G820C
Missense
SNP
1.000
1Loss-
ANO4-
-
-
-
3Gain-
ANO5-
-
-
-
1Loss-
ANO6-
-
-
-
3Gain-
ANO8-
-
-
-
3Gain-
ANP32A-
-
-
-
3Gain-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
ANTXRL-
-
-
-
1Loss-
ANXA1-
-
-
-
3Gain-
ANXA11-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
6Amp-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOC2-
-
-
-
3Gain-
AOC3-
-
-
-
3Gain-
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-
AP1G2-
-
-
-
3Gain-
AP1M2-
-
-
-
6Amp-
AP2A1-
-
-
-
1Loss-
AP2B1-
-
-
-
3Gain-
AP2M1-
-
-
-
1Loss-
AP2S1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
3Gain-
AP4S1-
-
-
-
11Amp-
AP5B1-
-
-
-
3Gain-
AP5M1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APBA1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APBB1-
-
-
-
1Loss-
APBB1IP-
-
-
-
3Gain-
APBB2-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APEX1-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLNRp.L218V
Missense
SNP
0.472
3Gain-
APLP1-
-
-
-
1Loss-
APLP2-
-
-
-
3Gain-
APMAP-
-
-
-
3Gain-
APOA1-
-
-
-
3Gain-
APOA4-
-
-
-
3Gain-
APOA5-
-
-
-
3Gain-
APOBR-
-
-
-
1Loss-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC3-
-
-
-
3Gain-
APOC4-APOC2-
-
-
-
1Loss-
APOD-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APOF-
-
-
-
3Gain-
APOH-
-
-
-
3Gain-
APP-
-
-
-
3Gain-
APPBP2-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP11-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP3-
-
-
-
3Gain-
AQP4-
-
-
-
6Amp-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
AQP8-
-
-
-
1Loss-
AQP9-
-
-
-
3Gain-
ARAP1-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARCN1-
-
-
-
3Gain-
AREL1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF3-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGEF1-
-
-
-
6Amp-
ARFGEF2-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP12-
-
-
-
3Gain-
ARHGAP17-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
3Gain-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
1Loss-
ARHGAP23-
-
-
-
3Gain-
ARHGAP27-
-
-
-
3Gain-
ARHGAP28-
-
-
-
1Loss-
ARHGAP32p.P332L
Missense
SNP
0.487
3Gain-
ARHGAP33-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP4p.S292C
Missense
SNP
1.000
NDND-
ARHGAP40-
-
-
-
3Gain-
ARHGAP42p.S264T
Missense
SNP
0.462
3Gain-
ARHGAP44-
-
-
-
3Gain-
ARHGAP5-
-
-
-
11Amp-
ARHGAP9p.X551_splice
Splice_Site
SNP
0.477
3Gain-
ARHGDIA-
-
-
-
3Gain-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10-
-
-
-
3Gain-
ARHGEF12-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF17-
-
-
-
3Gain-
ARHGEF18-
-
-
-
3Gain-
ARHGEF25-
-
-
-
3Gain-
ARHGEF37-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARHGEF40-
-
-
-
3Gain-
ARHGEF7-
-
-
-
1Loss-
ARID2-
-
-
-
3Gain-
ARID3Bp.A135Hfs*122
Frame_Shift_Del
DEL
0.223
2--
ARID3C-
-
-
-
3Gain-
ARID4A-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARID5A-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARIH1-
-
-
-
6Amp-
ARL1-
-
-
-
3Gain-
ARL14EP-
-
-
-
1Loss-
ARL16-
-
-
-
3Gain-
ARL2-
-
-
-
3Gain-
ARL2-SNX15-
-
-
-
3Gain-
ARL2BP-
-
-
-
3Gain-
ARL3-
-
-
-
1Loss-
ARL4D-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARL5C-
-
-
-
3Gain-
ARL6IP1-
-
-
-
1Loss-
ARL6IP4-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8A-
-
-
-
1Loss-
ARL8B-
-
-
-
3Gain-
ARL9-
-
-
-
0Del-
ARMC1-
-
-
-
6Amp-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMC5-
-
-
-
1Loss-
ARMC6-
-
-
-
3Gain-
ARMC7-
-
-
-
3Gain-
ARMH1-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNTL2-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPC5L-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARPP21-
-
-
-
1Loss-
ARRB1-
-
-
-
3Gain-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
3Gain-
ARRDC4-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSI-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
3Gain-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASB16-
-
-
-
3Gain-
ASB17-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB6-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASB8-
-
-
-
3Gain-
ASCC1-
-
-
-
1Loss-
ASCL1-
-
-
-
3Gain-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASCL4-
-
-
-
3Gain-
ASF1B-
-
-
-
3Gain-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC1-
-
-
-
3Gain-
ASIC2-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPDH-
-
-
-
1Loss-
ASPHp.G95V
Missense
SNP
1.000
6Amp-
ASPHD1-
-
-
-
1Loss-
ASPM-
-
-
-
1Loss-
ASPN-
-
-
-
3Gain-
ASPSCR1-
-
-
-
3Gain-
ASRGL1-
-
-
-
3Gain-
ASS1-
-
-
-
3Gain-
ASTL-
-
-
-
1Loss-
ASTN2-
-
-
-
3Gain-
ASXL1-
-
-
-
1Loss-
ASXL3p.H1252N
p.G1287A
Missense
Missense
SNP
SNP
0.674
0.665
6Amp-
ATAD1-
-
-
-
1Loss-
ATAD2-
-
-
-
3Gain-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATAD5-
-
-
-
3Gain-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
3Gain-
ATF3-
-
-
-
1Loss-
ATF5-
-
-
-
1Loss-
ATF7-
-
-
-
3Gain-
ATF7IP2-
-
-
-
1Loss-
ATG101-
-
-
-
3Gain-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG16L2-
-
-
-
3Gain-
ATG2A-
-
-
-
3Gain-
ATG2B-
-
-
-
1Loss-
ATG4C-
-
-
-
3Gain-
ATG4D-
-
-
-
6Amp-
ATG7-
-
-
-
3Gain-
ATL1-
-
-
-
1Loss-
ATL3-
-
-
-
3Gain-
ATMp.W1805*
Nonsense
SNP
0.487
3Gain-
ATOH7-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10Ap.D769H
Missense
SNP
0.469
3Gain-
ATP10B-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
1Loss-
ATP13A1-
-
-
-
3Gain-
ATP13A3-
-
-
-
1Loss-
ATP13A4-
-
-
-
1Loss-
ATP13A5p.P738S
Missense
SNP
1.000
1Loss-
ATP1A1-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
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-
ATP5F1E-
-
-
-
3Gain-
ATP5MC1-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP5MG-
-
-
-
3Gain-
ATP5MGL-
-
-
-
3Gain-
ATP5PB-
-
-
-
1Loss-
ATP5PD-
-
-
-
3Gain-
ATP5PF-
-
-
-
3Gain-
ATP5PO-
-
-
-
3Gain-
ATP5S-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0B-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
6Amp-
ATP6V0E2p.D138A
Missense
SNP
1.000
2--
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
1Loss-
ATP6V1H-
-
-
-
6Amp-
ATP8A1-
-
-
-
1Loss-
ATP8B1-
-
-
-
6Amp-
ATP8B4-
-
-
-
3Gain-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
6Amp-
ATPAF1-
-
-
-
3Gain-
ATPAF2-
-
-
-
3Gain-
ATRN-
-
-
-
3Gain-
ATRNL1p.R1263G
Missense
SNP
1.000
1Loss-
ATXN2-
-
-
-
3Gain-
ATXN2L-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AUH-
-
-
-
3Gain-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVIL-
-
-
-
3Gain-
AVP-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
3Gain-
AVPR1B-
-
-
-
1Loss-
AXIN2p.S557T
Missense
SNP
0.466
3Gain-
AXL-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
B2M-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2p.N100Kfs*15
Frame_Shift_Del
DEL
1.000
1Loss-
B3GALT5p.K189E
Missense
SNP
0.485
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GAT1p.I13M
Missense
SNP
0.472
3Gain-
B3GAT3-
-
-
-
3Gain-
B3GLCT-
-
-
-
3Gain-
B3GNT3-
-
-
-
3Gain-
B3GNT4-
-
-
-
3Gain-
B3GNT5-
-
-
-
1Loss-
B3GNT6-
-
-
-
3Gain-
B3GNT8-
-
-
-
1Loss-
B3GNTL1-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT2-
-
-
-
3Gain-
B4GALT1-
-
-
-
3Gain-
B4GALT2-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GALT6-
-
-
-
6Amp-
B4GAT1-
-
-
-
3Gain-
B9D1-
-
-
-
3Gain-
B9D2-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BAAT-
-
-
-
3Gain-
BABAM1-
-
-
-
3Gain-
BACE1-
-
-
-
3Gain-
BACE2-
-
-
-
3Gain-
BACH1-
-
-
-
3Gain-
BAD-
-
-
-
3Gain-
BAG1-
-
-
-
3Gain-
BAG3-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAHCC1-
-
-
-
3Gain-
BAIAP2-
-
-
-
3Gain-
BAMBI-
-
-
-
3Gain-
BANF1-
-
-
-
3Gain-
BANF2-
-
-
-
3Gain-
BANK1p.G11W
Missense
SNP
0.320
2--
BANP-
-
-
-
1Loss-
BARHL2-
-
-
-
3Gain-
BARX1-
-
-
-
3Gain-
BARX2-
-
-
-
3Gain-
BASP1-
-
-
-
6Amp-
BATF-
-
-
-
1Loss-
BATF2-
-
-
-
3Gain-
BATF3-
-
-
-
1Loss-
BAX-
-
-
-
1Loss-
BAZ1A-
-
-
-
6Amp-
BAZ2A-
-
-
-
3Gain-
BBC3-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS1-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS2-
-
-
-
3Gain-
BBS4-
-
-
-
6Amp-
BCAM-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS2-
-
-
-
1Loss-
BCAS3-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCAT2-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
3Gain-
BCHE-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCKDK-
-
-
-
1Loss-
BCL10-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
6Amp-
BCL2L1-
-
-
-
1Loss-
BCL2L10-
-
-
-
3Gain-
BCL2L12-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL2L15-
-
-
-
1Loss-
BCL2L2-
-
-
-
3Gain-
BCL2L2-PABPN1-
-
-
-
3Gain-
BCL3-
-
-
-
1Loss-
BCL6-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
3Gain-
BCL7C-
-
-
-
1Loss-
BCL9L-
-
-
-
3Gain-
BCO2-
-
-
-
3Gain-
BCORL1p.G543W
Missense
SNP
1.000
NDND-
BDH1-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BECN1-
-
-
-
3Gain-
BEGAIN-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND5-
-
-
-
3Gain-
BEND7-
-
-
-
3Gain-
BEST1-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BEST4-
-
-
-
3Gain-
BFAR-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22p.P80H
Missense
SNP
0.337
6Amp-
BHLHE23-
-
-
-
3Gain-
BHLHE40-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD2p.D636Y
Missense
SNP
0.484
3Gain-
BICDL1-
-
-
-
3Gain-
BICRA-
-
-
-
1Loss-
BID-
-
-
-
3Gain-
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-
BLVRB-
-
-
-
1Loss-
BMI1-
-
-
-
3Gain-
BMP1-
-
-
-
3Gain-
BMP2p.A180S
Missense
SNP
0.498
3Gain-
BMP4-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPR1A-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BNC2-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BNIP3L-
-
-
-
3Gain-
BOCp.P181S
Missense
SNP
0.355
2--
BOD1p.G174C
Missense
SNP
0.484
2--
BOD1L2-
-
-
-
6Amp-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BORCS8-
-
-
-
3Gain-
BORCS8-MEF2B-
-
-
-
3Gain-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPNT1-
-
-
-
1Loss-
BPTF-
-
-
-
3Gain-
BRAP-
-
-
-
3Gain-
BRCA1p.A194V
Missense
SNP
0.496
3Gain-
BRCA2-
-
-
-
3Gain-
BRD4-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRD9-
-
-
-
6Amp-
BRF2-
-
-
-
1Loss-
BRI3BP-
-
-
-
3Gain-
BRINP1-
-
-
-
3Gain-
BRINP3-
-
-
-
1Loss-
BRIP1p.C86F
Missense
SNP
0.478
3Gain-
BRIX1-
-
-
-
6Amp-
BRK1-
-
-
-
3Gain-
BRMS1-
-
-
-
3Gain-
BRMS1L-
-
-
-
6Amp-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
3Gain-
BRPF3p.R767L
Missense
SNP
1.000
2--
BRSK1-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BRWD3p.G80V
Missense
SNP
1.000
NDND-
BSCL2-
-
-
-
3Gain-
BSND-
-
-
-
3Gain-
BSPH1-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BST2-
-
-
-
3Gain-
BSX-
-
-
-
3Gain-
BTAF1-
-
-
-
1Loss-
BTBD11-
-
-
-
3Gain-
BTBD16-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD18-
-
-
-
3Gain-
BTBD19-
-
-
-
3Gain-
BTBD3-
-
-
-
3Gain-
BTBD7-
-
-
-
1Loss-
BTD-
-
-
-
3Gain-
BTF3L4-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTG2-
-
-
-
1Loss-
BTG3-
-
-
-
3Gain-
BTG4-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
3Gain-
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
0.508
3Gain-
C11orf87-
-
-
-
3Gain-
C11orf88-
-
-
-
3Gain-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
3Gain-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
3Gain-
C11orf98-
-
-
-
3Gain-
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf40p.S9Y
Missense
SNP
0.253
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50p.S353R
Missense
SNP
0.436
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf28-
-
-
-
8Amp-
C14orf39p.S576Y
Missense
SNP
1.000
1Loss-
C14orf93-
-
-
-
3Gain-
C15orf48-
-
-
-
3Gain-
C15orf61-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C16orf45-
-
-
-
1Loss-
C16orf54-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
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-
C17orf78-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
6Amp-
C18orf25-
-
-
-
6Amp-
C18orf32-
-
-
-
6Amp-
C18orf54-
-
-
-
6Amp-
C18orf63-
-
-
-
6Amp-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
6Amp-
C19orf44-
-
-
-
6Amp-
C19orf47-
-
-
-
1Loss-
C19orf48-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C19orf57-
-
-
-
2-C19orf57--AC012618.3
C19orf66-
-
-
-
6Amp-
C19orf67-
-
-
-
3Gain-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf109-
-
-
-
3Gain-
C1orf115-
-
-
-
1Loss-
C1orf116-
-
-
-
1Loss-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
1Loss-
C1orf167p.R306P
Missense
SNP
0.995
2--
C1orf174-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf198-
-
-
-
3Gain-
C1orf210-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf50-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf53-
-
-
-
1Loss-
C1orf74-
-
-
-
1Loss-
C1orf87-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QL1-
-
-
-
3Gain-
C1QL3-
-
-
-
3Gain-
C1QL4-
-
-
-
3Gain-
C1QTNF1-
-
-
-
3Gain-
C1QTNF12-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
6Amp-
C1QTNF3-AMACR-
-
-
-
6Amp-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
3Gain-
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-
C22orf39-
-
-
-
3Gain-
C2CD2-
-
-
-
3Gain-
C2CD2L-
-
-
-
3Gain-
C2CD3-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C2orf15-
-
-
-
3Gain-
C3-
-
-
-
3Gain-
C3orf14-
-
-
-
1Loss-
C3orf20-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
1Loss-
C4BPA-
-
-
-
1Loss-
C4BPB-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf26p.R59G
Missense
SNP
0.301
NDND-
C4orf47-
-
-
-
1Loss-
C5-
-
-
-
3Gain-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf22-
-
-
-
6Amp-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
6Amp-
C5orf49-
-
-
-
6Amp-
C5orf51-
-
-
-
6Amp-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C6-
-
-
-
6Amp-
C7-
-
-
-
6Amp-
C8A-
-
-
-
3Gain-
C8B-
-
-
-
3Gain-
C8orf34-
-
-
-
6Amp-
C8orf37-
-
-
-
6Amp-
C8orf44-
-
-
-
6Amp-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf59-
-
-
-
6Amp-
C8orf74p.S83Y
Missense
SNP
0.533
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
6Amp-
C8orf89-
-
-
-
6Amp-
C9-
-
-
-
6Amp-
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-
-
-
-
6Amp-
CA10-
-
-
-
3Gain-
CA11-
-
-
-
1Loss-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
6Amp-
CA2-
-
-
-
6Amp-
CA3-
-
-
-
6Amp-
CA4-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA8-
-
-
-
6Amp-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CABCOCO1-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
3Gain-
CABP1p.R370L
Missense
SNP
0.472
3Gain-
CABP2-
-
-
-
3Gain-
CABP4-
-
-
-
3Gain-
CABP5-
-
-
-
1Loss-
CABYR-
-
-
-
6Amp-
CACHD1-
-
-
-
3Gain-
CACNA1A-
-
-
-
3GainSPECC1--CACNA1A
CACNA1G-
-
-
-
3Gain-
CACNA1Ip.G2197Afs*75
Frame_Shift_Del
DEL
1.000
2--
CACNA1S-
-
-
-
1Loss-
CACNB1-
-
-
-
3Gain-
CACNB2-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CACNG1-
-
-
-
3Gain-
CACNG3-
-
-
-
1Loss-
CACNG4-
-
-
-
3Gain-
CACNG5p.M52K
Missense
SNP
0.504
3Gain-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CADM1-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM4-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALB1-
-
-
-
7Amp-
CALCOCO1-
-
-
-
3Gain-
CALCOCO2-
-
-
-
3Gain-
CALCRL-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALML3-
-
-
-
3Gain-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALML6-
-
-
-
3Gain-
CALR3-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N2-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
3Gain-
CAMSAP2-
-
-
-
1Loss-
CAMSAP3-
-
-
-
3Gain-
CAMTA1-
-
-
-
3Gain-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
3Gain-
CAND2-
-
-
-
3Gain-
CANT1-
-
-
-
3Gain-
CAP1-
-
-
-
3Gain-
CAPN1-
-
-
-
3Gain-
CAPN12-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN5p.R62H
Missense
SNP
0.452
3Gain-
CAPN7-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS1-
-
-
-
1Loss-
CAPNS2-
-
-
-
3Gain-
CAPRIN1-
-
-
-
1Loss-
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPSL-
-
-
-
6Amp-
CAPZA1-
-
-
-
1Loss-
CARD14-
-
-
-
3Gain-
CARD16-
-
-
-
3Gain-
CARD17-
-
-
-
3Gain-
CARD18-
-
-
-
3Gain-
CARD19-
-
-
-
3Gain-
CARD6-
-
-
-
6Amp-
CARD8-
-
-
-
1Loss-
CARHSP1-
-
-
-
1Loss-
CARM1-
-
-
-
6Amp-
CARMIL3-
-
-
-
1Loss-
CARNMT1-
-
-
-
3Gain-
CARNS1-
-
-
-
3Gain-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASC1-
-
-
-
3Gain-
CASC10-
-
-
-
3Gain-
CASC3-
-
-
-
3Gain-
CASC4-
-
-
-
3Gain-
CASKIN2-
-
-
-
3Gain-
CASP1-
-
-
-
3Gain-
CASP12-
-
-
-
3Gain-
CASP14-
-
-
-
3Gain-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
3Gain-
CASP5-
-
-
-
3Gain-
CASP7-
-
-
-
1Loss-
CASQ2-
-
-
-
1Loss-
CASS4-
-
-
-
3Gain-
CAT-
-
-
-
1Loss-
CATSPER1-
-
-
-
3Gain-
CATSPER2-
-
-
-
3Gain-
CATSPERB-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERG-
-
-
-
1Loss-
CATSPERZ-
-
-
-
3Gain-
CAV3-
-
-
-
3Gain-
CAVIN1-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBFA2T2-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBL-
-
-
-
3Gain-
CBLC-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
6Amp-
CBLN3-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBSL-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CBWD3-
-
-
-
3Gain-
CBWD5-
-
-
-
3Gain-
CBWD6-
-
-
-
3Gain-
CBX1-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX4-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CBX8-
-
-
-
3Gain-
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-
CCDC116p.A327T
Missense
SNP
0.286
3Gain-
CCDC122-
-
-
-
3Gain-
CCDC124-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC137-
-
-
-
3Gain-
CCDC138p.F493L
Missense
SNP
1.000
2--
CCDC141-
-
-
-
1Loss-
CCDC144A-
-
-
-
3Gain-
CCDC144NL-
-
-
-
3Gain-
CCDC15-
-
-
-
3Gain-
CCDC151-
-
-
-
3Gain-
CCDC152-
-
-
-
6Amp-
CCDC153-
-
-
-
3Gain-
CCDC155-
-
-
-
1Loss-
CCDC157p.R436H
Missense
SNP
1.000
2--
CCDC158p.R621G
Missense
SNP
0.338
2--
CCDC159-
-
-
-
3Gain-
CCDC163-
-
-
-
3Gain-
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-
CCDC182-
-
-
-
3Gain-
CCDC184-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
3Gain-
CCDC189-
-
-
-
1Loss-
CCDC194-
-
-
-
3Gain-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC24-
-
-
-
3Gain-
CCDC25-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC3-
-
-
-
3Gain-
CCDC30-
-
-
-
3Gain-
CCDC34-
-
-
-
1Loss-
CCDC38-
-
-
-
3Gain-
CCDC39-
-
-
-
1Loss-
CCDC40-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC43-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
1Loss-
CCDC57-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC6-
-
-
-
1Loss-
CCDC60-
-
-
-
3Gain-
CCDC61-
-
-
-
1Loss-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC68-
-
-
-
6Amp-
CCDC69-
-
-
-
1Loss-
CCDC7-
-
-
-
3Gain-
CCDC73-
-
-
-
1Loss-
CCDC74Ap.V125L
Missense
SNP
0.360
2--
CCDC8-
-
-
-
1Loss-
CCDC81p.Q25L
Missense
SNP
0.544
3Gain-
CCDC82-
-
-
-
3Gain-
CCDC83-
-
-
-
3Gain-
CCDC84-
-
-
-
3Gain-
CCDC85B-
-
-
-
3Gain-
CCDC85C-
-
-
-
1Loss-
CCDC86-
-
-
-
3Gain-
CCDC87-
-
-
-
3Gain-
CCDC88Bp.G961W
Missense
SNP
0.575
3Gain-
CCDC88C-
-
-
-
1Loss-
CCDC89-
-
-
-
3Gain-
CCDC9-
-
-
-
1Loss-
CCDC90B-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCDC97-
-
-
-
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-
CCL21-
-
-
-
3Gain-
CCL22-
-
-
-
3Gain-
CCL23-
-
-
-
3Gain-
CCL25-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
3Gain-
CCL3L1-
-
-
-
3Gain-
CCL4-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCL5-
-
-
-
3Gain-
CCL7-
-
-
-
3Gain-
CCL8-
-
-
-
3Gain-
CCM2L-
-
-
-
1Loss-
CCNA1-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
3Gain-
CCNB2-
-
-
-
3Gain-
CCND1-
-
-
-
3Gain-
CCNE1-
-
-
-
1Loss-
CCNE2-
-
-
-
6Amp-
CCNG1-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCNY-
-
-
-
3Gain-
CCP110-
-
-
-
1Loss-
CCPG1-
-
-
-
3Gain-
CCR1-
-
-
-
1Loss-
CCR10-
-
-
-
3Gain-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCS-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CCT5-
-
-
-
6Amp-
CCT6B-
-
-
-
3Gain-
CCT8-
-
-
-
3Gain-
CCT8L2-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD163L1p.D580N
Missense
SNP
0.990
2--
CD177-
-
-
-
1Loss-
CD19-
-
-
-
1Loss-
CD2-
-
-
-
1Loss-
CD209-
-
-
-
3Gain-
CD22-
-
-
-
1Loss-
CD226-
-
-
-
6Amp-
CD248-
-
-
-
3Gain-
CD274-
-
-
-
3Gain-
CD276-
-
-
-
3Gain-
CD2BP2-
-
-
-
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LG-
-
-
-
3Gain-
CD320-
-
-
-
5Amp-
CD33-
-
-
-
1Loss-
CD34-
-
-
-
1Loss-
CD37-
-
-
-
1Loss-
CD3D-
-
-
-
3Gain-
CD3E-
-
-
-
3Gain-
CD3EAP-
-
-
-
1Loss-
CD3G-
-
-
-
3Gain-
CD40-
-
-
-
3Gain-
CD44-
-
-
-
1Loss-
CD46-
-
-
-
1Loss-
CD5-
-
-
-
3Gain-
CD53-
-
-
-
1Loss-
CD55-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD6-
-
-
-
3Gain-
CD63-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD7-
-
-
-
3Gain-
CD70-
-
-
-
3Gain-
CD72-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD79A-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD86p.P3T
Missense
SNP
0.582
2--
CD93-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC14B-
-
-
-
3Gain-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
3Gain-
CDC25B-
-
-
-
3Gain-
CDC26-
-
-
-
3Gain-
CDC27-
-
-
-
3Gain-
CDC37-
-
-
-
6Amp-
CDC37L1-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42BPG-
-
-
-
3Gain-
CDC42EP2-
-
-
-
3Gain-
CDC42EP4-
-
-
-
3Gain-
CDC42EP5-
-
-
-
1Loss-
CDC45-
-
-
-
3Gain-
CDC6-
-
-
-
3Gain-
CDC73-
-
-
-
1Loss-
CDCA2-
-
-
-
3Gain-
CDCA5-
-
-
-
3Gain-
CDCA8-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
3Gain-
CDH10-
-
-
-
6Amp-
CDH11-
-
-
-
3Gain-
CDH12-
-
-
-
6Amp-
CDH15-
-
-
-
1Loss-
CDH17-
-
-
-
6Amp-
CDH18-
-
-
-
6Amp-
CDH19-
-
-
-
6Amp-
CDH2-
-
-
-
6Amp-
CDH20-
-
-
-
6Amp-
CDH22-
-
-
-
3Gain-
CDH23-
-
-
-
1Loss-
CDH24-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH6-
-
-
-
6Amp-
CDH7p.R127M
Missense
SNP
0.317
6Amp-
CDH8-
-
-
-
3Gain-
CDH9-
-
-
-
6Amp-
CDHR1-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK12-
-
-
-
3Gain-
CDK17-
-
-
-
3Gain-
CDK18-
-
-
-
1Loss-
CDK2-
-
-
-
3Gain-
CDK20-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK2AP2-
-
-
-
3Gain-
CDK3-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5R1-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDK5RAP2-
-
-
-
3Gain-
CDK5RAP3-
-
-
-
3Gain-
CDK8-
-
-
-
3Gain-
CDK9-
-
-
-
3Gain-
CDKL1-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2AIP-
-
-
-
1Loss-
CDKN2B-
-
-
-
3Gain-
CDKN2C-
-
-
-
3Gain-
CDKN2D-
-
-
-
6Amp-
CDKN3-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDON-
-
-
-
3Gain-
CDR2-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT1-
-
-
-
3Gain-
CDRT15-
-
-
-
3Gain-
CDRT15L2-
-
-
-
3Gain-
CDRT4-
-
-
-
3Gain-
CDS2-
-
-
-
3Gain-
CDT1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
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
0.738
2--
CELA1-
-
-
-
3Gain-
CELF1-
-
-
-
1Loss-
CELF2-
-
-
-
3Gain-
CELF4-
-
-
-
6Amp-
CELF6-
-
-
-
6Amp-
CELSR2-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CENPB-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
1Loss-
CENPP-
-
-
-
3Gain-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
3Gain-
CENPX-
-
-
-
3Gain-
CEP104-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP126-
-
-
-
3Gain-
CEP128-
-
-
-
1Loss-
CEP131-
-
-
-
3Gain-
CEP135-
-
-
-
0Del-
CEP152-
-
-
-
3Gain-
CEP164-
-
-
-
3Gain-
CEP170-
-
-
-
3Gain-
CEP19-
-
-
-
1Loss-
CEP192-
-
-
-
3Gain-
CEP250-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP295-
-
-
-
3Gain-
CEP295NL-
-
-
-
3Gain-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
3Gain-
CEP72p.Q244H
Missense
SNP
0.632
6Amp-
CEP76-
-
-
-
1Loss-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP89-
-
-
-
1Loss-
CEP95-
-
-
-
3Gain-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
3Gain-
CERCAM-
-
-
-
3Gain-
CERKL-
-
-
-
1Loss-
CERS1-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CERS4-
-
-
-
5Amp-
CERS5-
-
-
-
3Gain-
CES1-
-
-
-
3Gain-
CES5A-
-
-
-
3Gain-
CETN1-
-
-
-
1Loss-
CETP-
-
-
-
3Gain-
CFAP157-
-
-
-
3Gain-
CFAP20-
-
-
-
3Gain-
CFAP298-
-
-
-
3Gain-
CFAP300-
-
-
-
3Gain-
CFAP410-
-
-
-
3Gain-
CFAP43-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
6Amp-
CFAP54-
-
-
-
3Gain-
CFAP57-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
3Gain-
CFAP74-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFAP97D1-
-
-
-
3Gain-
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-
CGB3-
-
-
-
1Loss-
CGB5-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CGNL1-
-
-
-
3Gain-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAD-
-
-
-
3Gain-
CHAF1B-
-
-
-
3Gain-
CHAMP1-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHCHD4-
-
-
-
3Gain-
CHCHD7-
-
-
-
6Amp-
CHD3-
-
-
-
1Loss-
CHD5-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD7p.T1133R
Missense
SNP
0.294
6Amp-
CHD8-
-
-
-
3Gain-
CHD9-
-
-
-
3Gain-
CHEK1-
-
-
-
3Gain-
CHERP-
-
-
-
6Amp-
CHFR-
-
-
-
3Gain-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHI3L1-
-
-
-
1Loss-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHIC2-
-
-
-
3Gain-
CHIT1-
-
-
-
1Loss-
CHKA-
-
-
-
3Gain-
CHL1p.R787P
Missense
SNP
0.521
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
6Amp-
CHMP5-
-
-
-
3Gain-
CHMP6-
-
-
-
3Gain-
CHMP7-
-
-
-
3Gain-
CHODLp.L232R
Missense
SNP
0.441
3Gain-
CHORDC1-
-
-
-
3Gain-
CHP2-
-
-
-
1Loss-
CHPT1-
-
-
-
3Gain-
CHRD-
-
-
-
1Loss-
CHRDL2-
-
-
-
3Gain-
CHRM1-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
3Gain-
CHRNA4-
-
-
-
3Gain-
CHRNA6-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST10-
-
-
-
3Gain-
CHST11-
-
-
-
3Gain-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST8-
-
-
-
1Loss-
CHST9-
-
-
-
6Amp-
CHSY1-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO1-
-
-
-
1Loss-
CIAO2A-
-
-
-
3Gain-
CIAPIN1-
-
-
-
3Gain-
CIC-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
3Gain-
CIITA-
-
-
-
1Loss-
CILP-
-
-
-
3Gain-
CILP2-
-
-
-
3Gain-
CIPC-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISD3-
-
-
-
3Gain-
CITp.G290Wfs*6
Frame_Shift_Ins
INS
0.290
3Gain-
CITED4-
-
-
-
3Gain-
CIZ1-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CKAP5-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCC1-
-
-
-
1Loss-
CLCF1-
-
-
-
3Gain-
CLCN2-
-
-
-
1Loss-
CLDN1-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
1Loss-
CLDN14-
-
-
-
3Gain-
CLDN16-
-
-
-
1Loss-
CLDN17-
-
-
-
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
3Gain-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
3Gain-
CLDN5-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
3Gain-
CLDND2-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC14A-
-
-
-
16Amp-
CLEC16A-
-
-
-
1Loss-
CLEC17Ap.D248E
Missense
SNP
1.000
3Gain-
CLEC19A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4G-
-
-
-
3Gain-
CLEC4M-
-
-
-
3Gain-
CLIC6-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
3Gain-
CLIP3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
3Gain-
CLMN-
-
-
-
1Loss-
CLMP-
-
-
-
3Gain-
CLN3-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN6-
-
-
-
3Gain-
CLN8-
-
-
-
3Gain-
CLNS1A-
-
-
-
3Gain-
CLOCK-
-
-
-
0Del-
CLP1-
-
-
-
3Gain-
CLPB-
-
-
-
3Gain-
CLPTM1-
-
-
-
1Loss-
CLPTM1L-
-
-
-
6Amp-
CLPX-
-
-
-
3Gain-
CLRN3-
-
-
-
1Loss-
CLTA-
-
-
-
3Gain-
CLTC-
-
-
-
3Gain-
CLTCL1-
-
-
-
3Gain-
CLU-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS1-
-
-
-
6Amp-
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMAS-
-
-
-
3Gain-
CMBL-
-
-
-
6Amp-
CMC1-
-
-
-
1Loss-
CMKLR1-
-
-
-
3Gain-
CMPK1-
-
-
-
3Gain-
CMTM5-
-
-
-
3Gain-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
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-
CNN1-
-
-
-
3Gain-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM3-
-
-
-
3Gain-
CNNM4-
-
-
-
3Gain-
CNOT1-
-
-
-
3Gain-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNOT3-
-
-
-
1Loss-
CNOT7-
-
-
-
3Gain-
CNOT8-
-
-
-
1Loss-
CNP-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
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
0.201
0.185
3Gain-
CNTN5-
-
-
-
3Gain-
CNTN6p.G712*
Nonsense
SNP
0.421
3Gain-
CNTNAP1-
-
-
-
3Gain-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP3C-
-
-
-
3Gain-
CNTRL-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA3-
-
-
-
3Gain-
COA4-
-
-
-
3Gain-
COA5-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COA7-
-
-
-
3Gain-
COASY-
-
-
-
3Gain-
COCH-
-
-
-
11Amp-
COG1-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COG7-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL13A1-
-
-
-
1Loss-
COL14A1-
-
-
-
3Gain-
COL15A1p.P3T
p.G1002R
Missense
Missense
SNP
SNP
0.406
0.609
3Gain-
COL17A1-
-
-
-
1Loss-
COL18A1-
-
-
-
3Gain-
COL19A1p.Q43L
Missense
SNP
1.000
2--
COL1A1-
-
-
-
3Gain-
COL20A1-
-
-
-
3Gain-
COL22A1-
-
-
-
1Loss-
COL24A1p.S1346I
Missense
SNP
0.484
3Gain-
COL27A1-
-
-
-
3Gain-
COL2A1-
-
-
-
3Gain-
COL3A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL5A3-
-
-
-
6Amp-
COL6A1-
-
-
-
3Gain-
COL6A2-
-
-
-
3Gain-
COL6A6p.X993_splice
p.I1221T
Splice_Site
Missense
SNP
SNP
0.303
0.549
2--
COL8A2-
-
-
-
3Gain-
COL9A2-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COLCA2-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLEC12-
-
-
-
1Loss-
COLGALT1-
-
-
-
3Gain-
COLQ-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD6-
-
-
-
1Loss-
COMMD7-
-
-
-
3Gain-
COMMD9-
-
-
-
1Loss-
COMPp.T529N
Missense
SNP
0.484
3Gain-
COMT-
-
-
-
3Gain-
COMTD1-
-
-
-
1Loss-
COPE-
-
-
-
3Gain-
COPRS-
-
-
-
3Gain-
COPS2-
-
-
-
3Gain-
COPS3-
-
-
-
3Gain-
COPS5-
-
-
-
6Amp-
COPZ1-
-
-
-
3Gain-
COPZ2-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
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-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX4I2-
-
-
-
1Loss-
COX5B-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX6A2-
-
-
-
1Loss-
COX6B1-
-
-
-
1Loss-
COX6B2-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
COX7A1-
-
-
-
1Loss-
COX8A-
-
-
-
3Gain-
COX8C-
-
-
-
1Loss-
CPA6-
-
-
-
6Amp-
CPAMD8-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPD-
-
-
-
3Gain-
CPEB3-
-
-
-
1Loss-
CPLANE1-
-
-
-
6Amp-
CPLX4-
-
-
-
6Amp-
CPM-
-
-
-
3Gain-
CPN1-
-
-
-
1Loss-
CPN2-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE2-
-
-
-
3Gain-
CPNE3-
-
-
-
6Amp-
CPNE6-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPNE8-
-
-
-
3Gain-
CPNE9-
-
-
-
3Gain-
CPPED1-
-
-
-
1Loss-
CPQ-
-
-
-
6Amp-
CPSF2-
-
-
-
1Loss-
CPSF4L-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPSF7-
-
-
-
3Gain-
CPT1A-
-
-
-
3Gain-
CPT1C-
-
-
-
1Loss-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
3Gain-
CPXM1-
-
-
-
3Gain-
CPXM2-
-
-
-
1Loss-
CPZp.A621G
Missense
SNP
0.407
2--
CR1-
-
-
-
1Loss-
CR1L-
-
-
-
1Loss-
CR2p.L248R
Missense
SNP
1.000
1Loss-
CR392000.1p.V96F
Missense
SNP
0.612
NDND-
CRADD-
-
-
-
3Gain-
CRAT-
-
-
-
3Gain-
CRB1-
-
-
-
1Loss-
CRB2-
-
-
-
3Gain-
CRB3-
-
-
-
3Gain-
CRBN-
-
-
-
3Gain-
CREB3-
-
-
-
3Gain-
CREB3L1-
-
-
-
1Loss-
CREBZF-
-
-
-
3Gain-
CREG2-
-
-
-
3Gain-
CRELD1-
-
-
-
3Gain-
CREM-
-
-
-
3Gain-
CRH-
-
-
-
6Amp-
CRHR1-
-
-
-
3Gain-
CRISPLD1-
-
-
-
6Amp-
CRISPLD2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRLF1-
-
-
-
3Gain-
CRLF3-
-
-
-
3Gain-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC1p.P402L
Missense
SNP
0.982
3Gain-
CRX-
-
-
-
1Loss-
CRY1-
-
-
-
3Gain-
CRY2-
-
-
-
1Loss-
CRYAA-
-
-
-
3Gain-
CRYAA2-
-
-
-
3Gain-
CRYAB-
-
-
-
3Gain-
CRYBA1-
-
-
-
3Gain-
CRYBA4p.Q130H;p.A131S
Missense
MNP
1.000
2--
CRYGS-
-
-
-
1Loss-
CRYM-
-
-
-
1Loss-
CRYZ-
-
-
-
3Gain-
CRYZL1-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF3-
-
-
-
3Gain-
CSF3Rp.X331_splice
Splice_Site
DEL
0.276
3Gain-
CSGALNACT1-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
1Loss-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSKMT-
-
-
-
3Gain-
CSMD1p.C2147Y
Missense
SNP
0.483
3Gain-
CSMD3p.Q174K
Missense
SNP
0.451
3Gain-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
3Gain-
CSNK1D-
-
-
-
3Gain-
CSNK1G1-
-
-
-
3Gain-
CSNK2A1-
-
-
-
3Gain-
CSNK2A2-
-
-
-
3Gain-
CSPG4p.E867K
Missense
SNP
1.000
2--
CSPP1-
-
-
-
6Amp-
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
0.450
0.425
3Gain-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
3Gain-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTD-3074O7.11p.P568_R569insA
In_Frame_Ins
INS
0.267
NDND-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
6Amp-
CTDSP2-
-
-
-
3Gain-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
3Gain-
CTF1-
-
-
-
1Loss-
CTH-
-
-
-
3Gain-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
6Amp-
CTNNA3-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTNND1-
-
-
-
3Gain-
CTNND2-
-
-
-
6Amp-
CTNS-
-
-
-
1Loss-
CTPS1-
-
-
-
3Gain-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
3Gain-
CTSC-
-
-
-
3Gain-
CTSE-
-
-
-
1Loss-
CTSF-
-
-
-
3Gain-
CTSG-
-
-
-
1Loss-
CTSL-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTSW-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTN-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
1Loss-
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
3Gain-
CTXN2-
-
-
-
3Gain-
CUBNp.E754Q
Missense
SNP
0.481
3Gain-
CUEDC1-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL2-
-
-
-
3Gain-
CUL4A-
-
-
-
1Loss-
CUL5p.M476I
Missense
SNP
0.538
3Gain-
CUTC-
-
-
-
1Loss-
CUX2-
-
-
-
3Gain-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
3Gain-
CWC22-
-
-
-
1Loss-
CWC25-
-
-
-
3Gain-
CWF19L1p.A2S
Missense
SNP
1.000
1Loss-
CWF19L2-
-
-
-
3Gain-
CX3CL1-
-
-
-
3Gain-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
3Gain-
CXCL12-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCR5-
-
-
-
3Gain-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
6Amp-
CYB561-
-
-
-
3Gain-
CYB561A3-
-
-
-
3Gain-
CYB561D1-
-
-
-
1Loss-
CYB5A-
-
-
-
6Amp-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3-
-
-
-
3Gain-
CYB5RL-
-
-
-
3Gain-
CYBA-
-
-
-
1Loss-
CYBC1-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYLC2-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27B1-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2J2-
-
-
-
3Gain-
CYP2S1-
-
-
-
1Loss-
CYP46A1-
-
-
-
1Loss-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1-
-
-
-
3Gain-
CYP4F11-
-
-
-
3Gain-
CYP4F12-
-
-
-
7Amp-
CYP4F2-
-
-
-
3Gain-
CYP4F22-
-
-
-
3Gain-
CYP4F3-
-
-
-
3Gain-
CYP4F8-
-
-
-
3Gain-
CYP4V2-
-
-
-
1Loss-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYP7A1-
-
-
-
6Amp-
CYP7B1-
-
-
-
6Amp-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
3Gain-
CYTH1-
-
-
-
3Gain-
CYTH2-
-
-
-
1Loss-
CYYR1-
-
-
-
3Gain-
DAAM1-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DAB2-
-
-
-
6Amp-
DAB2IP-
-
-
-
3Gain-
DACH1-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DACT3p.T237N
Missense
SNP
0.933
1Loss-
DAD1-
-
-
-
3Gain-
DAGLA-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
6Amp-
DAPK1p.G1274A
Missense
SNP
0.509
3Gain-
DAPK2-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBF4B-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBP-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DBX2-
-
-
-
3Gain-
DCAF10-
-
-
-
3Gain-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
3Gain-
DCAF12L1p.Q380E
Missense
SNP
1.000
NDND-
DCAF13-
-
-
-
3Gain-
DCAF15-
-
-
-
3Gain-
DCAF4-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF4L2p.C145*
Nonsense
SNP
1.000
6Amp-
DCAF5-
-
-
-
1Loss-
DCAF7-
-
-
-
3Gain-
DCAKD-
-
-
-
3Gain-
DCC-
-
-
-
6Amp-
DCD-
-
-
-
3Gain-
DCDC1-
-
-
-
1Loss-
DCDC2Cp.G178V
Missense
SNP
1.000
2--
DCHS1-
-
-
-
1Loss-
DCLK1-
-
-
-
3Gain-
DCLK3-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCPS-
-
-
-
3Gain-
DCSTAMP-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN2-
-
-
-
3Gain-
DCTN3-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCTN6-
-
-
-
3Gain-
DCTPP1-
-
-
-
1Loss-
DCUN1D1-
-
-
-
1Loss-
DCUN1D2-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DCUN1D4-
-
-
-
3Gain-
DCUN1D5-
-
-
-
3Gain-
DCXR-
-
-
-
3Gain-
DDA1-
-
-
-
3Gain-
DDAH1-
-
-
-
3Gain-
DDB1-
-
-
-
3Gain-
DDB2-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDI1-
-
-
-
3Gain-
DDIAS-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX10-
-
-
-
3Gain-
DDX20-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
3Gain-
DDX24-
-
-
-
1Loss-
DDX25-
-
-
-
3Gain-
DDX27-
-
-
-
3Gain-
DDX39A-
-
-
-
3Gain-
DDX42-
-
-
-
3Gain-
DDX49-
-
-
-
3Gain-
DDX5-
-
-
-
3Gain-
DDX50-
-
-
-
1Loss-
DDX51-
-
-
-
3Gain-
DDX52-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX58-
-
-
-
3Gain-
DDX59-
-
-
-
1Loss-
DDX6-
-
-
-
3Gain-
DEC1-
-
-
-
3Gain-
DECR1-
-
-
-
7Amp-
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-
DENND2Cp.M625K
Missense
SNP
1.000
1Loss-
DENND2D-
-
-
-
1Loss-
DENND4A-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENR-
-
-
-
3Gain-
DEPDC1-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DEUP1-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGAT2-
-
-
-
3Gain-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
1Loss-
DGKH-
-
-
-
3Gain-
DGKKp.G579V
Missense
SNP
1.000
NDND-
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHCR24-
-
-
-
3Gain-
DHCR7-
-
-
-
3Gain-
DHDH-
-
-
-
1Loss-
DHH-
-
-
-
3Gain-
DHRS1-
-
-
-
1Loss-
DHRS11-
-
-
-
3Gain-
DHRS13-
-
-
-
3Gain-
DHRS2-
-
-
-
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-
DHX40p.X183_splice
Splice_Site
SNP
0.461
3Gain-
DHX58-
-
-
-
3Gain-
DHX8-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
3Gain-
DICER1p.K902N
Missense
SNP
1.000
1Loss-
DIDO1-
-
-
-
3Gain-
DIO1-
-
-
-
3Gain-
DIO2-
-
-
-
1Loss-
DIP2A-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DIP2C-
-
-
-
3Gain-
DIRAS2-
-
-
-
3Gain-
DIRAS3-
-
-
-
3Gain-
DIRC1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DIXDC1-
-
-
-
3Gain-
DKK1-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLAT-
-
-
-
3Gain-
DLC1p.X439_splice
Splice_Site
SNP
0.558
3Gain-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
1Loss-
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-
DLST-
-
-
-
1Loss-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DMAC1-
-
-
-
3Gain-
DMAC2-
-
-
-
1Loss-
DMAP1-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMBX1-
-
-
-
3Gain-
DMDp.P1906A
Missense
SNP
1.000
NDND-
DMKN-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DMRTC2-
-
-
-
1Loss-
DMTNp.P196Rfs*35
Frame_Shift_Del
DEL
0.512
3Gain-
DMWD-
-
-
-
1Loss-
DMXL2-
-
-
-
3Gain-
DNA2-
-
-
-
1Loss-
DNAAF1-
-
-
-
3Gain-
DNAAF2-
-
-
-
1Loss-
DNAAF3p.R157Pfs*131
Frame_Shift_Ins
INS
0.452
1Loss-
DNAAF4-
-
-
-
3Gain-
DNAH10-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH17-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH3-
-
-
-
1Loss-
DNAH5-
-
-
-
6Amp-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJB1-
-
-
-
3Gain-
DNAJB11-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB13-
-
-
-
3Gain-
DNAJB4-
-
-
-
3Gain-
DNAJB5-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAJC10-
-
-
-
1Loss-
DNAJC11-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC14-
-
-
-
3Gain-
DNAJC15-
-
-
-
3Gain-
DNAJC19-
-
-
-
1Loss-
DNAJC21-
-
-
-
6Amp-
DNAJC22-
-
-
-
3Gain-
DNAJC24-
-
-
-
1Loss-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC28-
-
-
-
3Gain-
DNAJC3-
-
-
-
1Loss-
DNAJC4p.E81*
Nonsense
SNP
0.497
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
6Amp-
DNAJC6-
-
-
-
3Gain-
DNAJC7-
-
-
-
3Gain-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNALI1-
-
-
-
3Gain-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
3Gain-
DNASE2B-
-
-
-
3Gain-
DNHD1-
-
-
-
1Loss-
DNM1-
-
-
-
3Gain-
DNM2-
-
-
-
6Amp-
DNMBP-
-
-
-
1Loss-
DNMT1-
-
-
-
6Amp-
DNMT3B-
-
-
-
3Gain-
DNMT3L-
-
-
-
3Gain-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
3Gain-
DOC2A-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK5-
-
-
-
3Gain-
DOCK6-
-
-
-
3Gain-
DOCK7-
-
-
-
3Gain-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOK2-
-
-
-
3Gain-
DOK4-
-
-
-
3Gain-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
6Amp-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DONSON-
-
-
-
3Gain-
DOP1B-
-
-
-
3Gain-
DOPEY2p.L491Ffs*6
Frame_Shift_Ins
INS
0.280
NDND-
DPAGT1-
-
-
-
3Gain-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPF2-
-
-
-
3Gain-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
3Gain-
DPH3-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPM2-
-
-
-
3Gain-
DPP3-
-
-
-
3Gain-
DPP8-
-
-
-
3Gain-
DPRX-
-
-
-
1Loss-
DPY19L2-
-
-
-
3Gain-
DPY19L3-
-
-
-
1Loss-
DPY19L4-
-
-
-
6Amp-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
3Gain-
DPYSL4-
-
-
-
1Loss-
DRAM1-
-
-
-
3Gain-
DRAM2-
-
-
-
1Loss-
DRAP1-
-
-
-
3Gain-
DRC3-
-
-
-
3Gain-
DRC7-
-
-
-
3Gain-
DRD2-
-
-
-
3Gain-
DRG2-
-
-
-
3Gain-
DRGX-
-
-
-
1Loss-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
6Amp-
DSC1-
-
-
-
6Amp-
DSC2-
-
-
-
6Amp-
DSC3-
-
-
-
6Amp-
DSCAM-
-
-
-
3Gain-
DSCAML1p.A1044S
Missense
SNP
0.526
3Gain-
DSCC1-
-
-
-
3Gain-
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-
DTX3-
-
-
-
3Gain-
DTX4-
-
-
-
3Gain-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1-
-
-
-
3Gain-
DUOXA2-
-
-
-
3Gain-
DUPD1-
-
-
-
1Loss-
DUS1L-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP13-
-
-
-
1Loss-
DUSP14-
-
-
-
3Gain-
DUSP15-
-
-
-
1Loss-
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
1Loss-
DUSP26-
-
-
-
3Gain-
DUSP3-
-
-
-
3Gain-
DUSP4-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP6p.G217D
Missense
SNP
0.472
3Gain-
DUT-
-
-
-
3Gain-
DUXA-
-
-
-
1Loss-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
6Amp-
DYNAP-
-
-
-
6Amp-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
3Gain-
DYNLL1-
-
-
-
3Gain-
DYNLL2-
-
-
-
3Gain-
DYNLRB1-
-
-
-
3Gain-
DYRK1A-
-
-
-
3Gain-
DYRK1B-
-
-
-
1Loss-
DYRK2-
-
-
-
3Gain-
DYRK3-
-
-
-
1Loss-
DZANK1-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
DZIP3p.K805Y
Missense
MNP
0.627
2--
E2F1-
-
-
-
3Gain-
E2F5-
-
-
-
6Amp-
E2F7-
-
-
-
3Gain-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
3Gain-
EAPP-
-
-
-
6Amp-
EARS2-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
3Gain-
EBF3p.P177H
Missense
SNP
0.987
1Loss-
EBF4-
-
-
-
3Gain-
EBLN1-
-
-
-
3Gain-
EBLN2-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
3Gain-
ECD-
-
-
-
1Loss-
ECE2-
-
-
-
1Loss-
ECH1-
-
-
-
1Loss-
ECHDC2-
-
-
-
3Gain-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSIT-
-
-
-
3Gain-
ECT2-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDEM1-
-
-
-
3Gain-
EDEM2p.P32L
Missense
SNP
0.476
3Gain-
EDN2-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDNRBp.Q357H
Missense
SNP
0.992
1Loss-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
3Gain-
EED-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
1Loss-
EEF1AKMT4-ECE2-
-
-
-
1Loss-
EEF1G-
-
-
-
3Gain-
EEF2K-
-
-
-
1Loss-
EEF2KMT-
-
-
-
1Loss-
EFCAB1-
-
-
-
6Amp-
EFCAB11-
-
-
-
1Loss-
EFCAB13-
-
-
-
3Gain-
EFCAB14-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB5-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB8-
-
-
-
3Gain-
EFEMP2-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
3Gain-
EFTUD2-
-
-
-
3Gain-
EGFLAM-
-
-
-
6Amp-
EGLN1-
-
-
-
3Gain-
EGLN2-
-
-
-
1Loss-
EGLN3-
-
-
-
6Amp-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
3Gain-
EHBP1L1-
-
-
-
3Gain-
EHD1-
-
-
-
3Gain-
EHD2-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHHADH-
-
-
-
1Loss-
EI24-
-
-
-
3Gain-
EID1-
-
-
-
3Gain-
EID2-
-
-
-
1Loss-
EID2B-
-
-
-
1Loss-
EID3-
-
-
-
3Gain-
EIF1-
-
-
-
3Gain-
EIF1AD-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2B1-
-
-
-
3Gain-
EIF2B2-
-
-
-
1Loss-
EIF2B3-
-
-
-
3Gain-
EIF2B5-
-
-
-
1Loss-
EIF2D-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF3A-
-
-
-
1Loss-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3E-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
6Amp-
EIF3H-
-
-
-
3Gain-
EIF3J-
-
-
-
3Gain-
EIF3K-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
1Loss-
EIF4A3-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4G1-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
3Gain-
EIF6-
-
-
-
3Gain-
ELAC1-
-
-
-
6Amp-
ELAC2-
-
-
-
3Gain-
ELAVL1-
-
-
-
3Gain-
ELAVL2p.A182D
Missense
SNP
0.467
3Gain-
ELAVL3-
-
-
-
3Gain-
ELAVL4-
-
-
-
3Gain-
ELF1-
-
-
-
3Gain-
ELF3-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELK3-
-
-
-
3Gain-
ELK4-
-
-
-
1Loss-
ELL-
-
-
-
3Gain-
ELL3-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELMOD1-
-
-
-
3Gain-
ELMSAN1-
-
-
-
1Loss-
ELOA2-
-
-
-
6Amp-
ELOA3-
-
-
-
6Amp-
ELOA3B-
-
-
-
6Amp-
ELOA3D-
-
-
-
6Amp-
ELOC-
-
-
-
6Amp-
ELOF1-
-
-
-
3Gain-
ELOVL1-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
6Amp-
ELP3-
-
-
-
3Gain-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELSPBP1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
3Gain-
EMC6-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EME1-
-
-
-
3Gain-
EMILIN2-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EML2-
-
-
-
1Loss-
EML3-
-
-
-
3Gain-
EML5-
-
-
-
1Loss-
EMP2-
-
-
-
1Loss-
EMP3-
-
-
-
1Loss-
EMSY-
-
-
-
3Gain-
EMX2-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENDOD1-
-
-
-
3Gain-
ENDOG-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENDOV-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENGASE-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENPP6-
-
-
-
1Loss-
ENPP7-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
3Gain-
ENTPD5-
-
-
-
1Loss-
ENTPD6-
-
-
-
3Gain-
ENTPD7-
-
-
-
1Loss-
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMESp.L156M
Missense
SNP
1.000
1Loss-
EP400-
-
-
-
3Gain-
EPB41L1-
-
-
-
3Gain-
EPB41L3-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPC1-
-
-
-
3Gain-
EPG5p.D1567Y
Missense
SNP
0.284
6Amp-
EPHA10-
-
-
-
3Gain-
EPHA3-
-
-
-
1Loss-
EPHB3-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPHX3-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPN2-
-
-
-
3Gain-
EPN3-
-
-
-
3Gain-
EPOP-
-
-
-
3Gain-
EPOR-
-
-
-
3Gain-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPRS-
-
-
-
1Loss-
EPS15-
-
-
-
3Gain-
EPS15L1-
-
-
-
3Gain-
EPS8L1-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
3Gain-
EPX-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERAL1-
-
-
-
3Gain-
ERBB2-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
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-
ERMP1-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERN2-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
3Gain-
ESCO1p.V242L
Missense
SNP
0.473
3Gain-
ESCO2-
-
-
-
3Gain-
ESD-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESPN-
-
-
-
3Gain-
ESR1p.S47R
Missense
SNP
0.995
2--
ESR2-
-
-
-
1Loss-
ESRP1-
-
-
-
6Amp-
ESRRA-
-
-
-
3Gain-
ESRRB-
-
-
-
1Loss-
ESRRG-
-
-
-
1Loss-
ESS2-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ETFB-
-
-
-
1Loss-
ETFRF1-
-
-
-
3Gain-
ETHE1-
-
-
-
1Loss-
ETNK1-
-
-
-
3Gain-
ETNK2-
-
-
-
1Loss-
ETS1-
-
-
-
3Gain-
ETS2-
-
-
-
3Gain-
ETV2-
-
-
-
1Loss-
ETV4-
-
-
-
3Gain-
ETV5-
-
-
-
1Loss-
EVA1B-
-
-
-
3Gain-
EVA1C-
-
-
-
3Gain-
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVI5L-
-
-
-
3Gain-
EVL-
-
-
-
1Loss-
EVPL-
-
-
-
3Gain-
EVPLL-
-
-
-
3Gain-
EXD2-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXO5-
-
-
-
3Gain-
EXOC1-
-
-
-
0Del-
EXOC1L-
-
-
-
0Del-
EXOC3-
-
-
-
6Amp-
EXOC3L2-
-
-
-
1Loss-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOC7-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC3-
-
-
-
3Gain-
EXOSC5-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
3Gain-
EXPH5-
-
-
-
3Gain-
EXT1-
-
-
-
3Gain-
EXT2-
-
-
-
1Loss-
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
6Amp-
EYA2-
-
-
-
3Gain-
EYSp.S543R
Missense
SNP
1.000
2--
EZH1-
-
-
-
3Gain-
F10-
-
-
-
1Loss-
F11-
-
-
-
1Loss-
F13B-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F2RL3-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FAAH-
-
-
-
3Gain-
FAAP100-
-
-
-
3Gain-
FAAP20-
-
-
-
3Gain-
FAAP24-
-
-
-
1Loss-
FABP12-
-
-
-
6Amp-
FABP4-
-
-
-
6Amp-
FABP5-
-
-
-
6Amp-
FABP6-
-
-
-
1Loss-
FABP9-
-
-
-
6Amp-
FADD-
-
-
-
3Gain-
FADS1-
-
-
-
3Gain-
FADS2-
-
-
-
3Gain-
FADS3-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAF1-
-
-
-
3Gain-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
3Gain-
FAIM2-
-
-
-
3Gain-
FAM102A-
-
-
-
3Gain-
FAM102B-
-
-
-
1Loss-
FAM104A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
6Amp-
FAM111A-
-
-
-
3Gain-
FAM111B-
-
-
-
3Gain-
FAM114A1-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117A-
-
-
-
3Gain-
FAM118B-
-
-
-
3Gain-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM129B-
-
-
-
3Gain-
FAM129C-
-
-
-
3Gain-
FAM131A-
-
-
-
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-
FAM166B-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM168A-
-
-
-
3Gain-
FAM169B-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM171A2-
-
-
-
3Gain-
FAM171B-
-
-
-
1Loss-
FAM173B-
-
-
-
6Amp-
FAM177A1-
-
-
-
6Amp-
FAM177B-
-
-
-
3Gain-
FAM178B-
-
-
-
3Gain-
FAM179Bp.M1448I
Missense
SNP
0.780
NDND-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM181B-
-
-
-
3Gain-
FAM183A-
-
-
-
3Gain-
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM187A-
-
-
-
3Gain-
FAM187B-
-
-
-
1Loss-
FAM189A2-
-
-
-
3Gain-
FAM192A-
-
-
-
3Gain-
FAM196Bp.V166M
Missense
SNP
1.000
NDND-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM19A3-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM205C-
-
-
-
3Gain-
FAM206A-
-
-
-
3Gain-
FAM207A-
-
-
-
3Gain-
FAM208B-
-
-
-
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20A-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM216B-
-
-
-
3Gain-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
3Gain-
FAM221B-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM222B-
-
-
-
3Gain-
FAM227B-
-
-
-
3Gain-
FAM241B-
-
-
-
1Loss-
FAM243A-
-
-
-
3Gain-
FAM243B-
-
-
-
3Gain-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3B-
-
-
-
3Gain-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM47Bp.V638L
Missense
SNP
0.994
NDND-
FAM49B-
-
-
-
3Gain-
FAM53B-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM57B-
-
-
-
1Loss-
FAM69C-
-
-
-
6Amp-
FAM71A-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71C-
-
-
-
3Gain-
FAM71D-
-
-
-
1Loss-
FAM71E1-
-
-
-
1Loss-
FAM71E2-
-
-
-
1Loss-
FAM76B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83Cp.T639S
Missense
SNP
0.466
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83E-
-
-
-
1Loss-
FAM83G-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86C1-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
6Amp-
FAM92B-
-
-
-
1Loss-
FAM95C-
-
-
-
3Gain-
FAM98C-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCC-
-
-
-
3Gain-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
3Gain-
FANCM-
-
-
-
8Amp-
FANK1-
-
-
-
1Loss-
FAR2p.N396K
Missense
SNP
0.456
3Gain-
FARP1-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASN-
-
-
-
3Gain-
FASTKD3-
-
-
-
6Amp-
FASTKD5-
-
-
-
3Gain-
FAT1p.C281W
Missense
SNP
1.000
1Loss-
FAT2-
-
-
-
1Loss-
FAT3-
-
-
-
3Gain-
FAU-
-
-
-
3Gain-
FAXDC2-
-
-
-
1Loss-
FBF1-
-
-
-
3Gain-
FBH1-
-
-
-
3Gain-
FBL-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1p.S447R
Missense
SNP
1.000
2--
FBLN2-
-
-
-
3Gain-
FBLN5-
-
-
-
1Loss-
FBN1-
-
-
-
3Gain-
FBN2p.G1570C
Missense
SNP
1.000
2--
FBN3-
-
-
-
3Gain-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
3Gain-
FBRS-
-
-
-
1Loss-
FBRSL1-
-
-
-
3Gain-
FBXL12-
-
-
-
6Amp-
FBXL15-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
3Gain-
FBXL22-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL7-
-
-
-
6Amp-
FBXO10-
-
-
-
3Gain-
FBXO15-
-
-
-
6Amp-
FBXO16-
-
-
-
3Gain-
FBXO17-
-
-
-
1Loss-
FBXO21-
-
-
-
3Gain-
FBXO25-
-
-
-
3Gain-
FBXO27-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO3-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
3Gain-
FBXO33-
-
-
-
10Amp-
FBXO34-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
6Amp-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
1Loss-
FBXO46-
-
-
-
1Loss-
FBXO47-
-
-
-
3Gain-
FBXW10-
-
-
-
3Gain-
FBXW2-
-
-
-
3Gain-
FBXW4-
-
-
-
1Loss-
FBXW8-
-
-
-
3Gain-
FCAMR-
-
-
-
1Loss-
FCAR-
-
-
-
1Loss-
FCER2-
-
-
-
3Gain-
FCF1-
-
-
-
1Loss-
FCGBP-
-
-
-
1Loss-
FCGR1B-
-
-
-
1Loss-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
3Gain-
FCHSD1-
-
-
-
1Loss-
FCHSD2-
-
-
-
3Gain-
FCMR-
-
-
-
1Loss-
FDFT1p.E123K
Missense
SNP
0.449
3Gain-
FDX1-
-
-
-
3Gain-
FDX2-
-
-
-
6Amp-
FDXACB1-
-
-
-
3Gain-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
6Amp-
FEM1B-
-
-
-
3Gain-
FEN1-
-
-
-
3Gain-
FERp.E278K
Missense
SNP
1.000
2--
FER1L5-
-
-
-
3Gain-
FER1L6-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FERMT2-
-
-
-
1Loss-
FERMT3-
-
-
-
3Gain-
FETUB-
-
-
-
1Loss-
FEZ1-
-
-
-
3Gain-
FEZF2-
-
-
-
1Loss-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD5-
-
-
-
3Gain-
FGD6-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF17-
-
-
-
3Gain-
FGF19-
-
-
-
3Gain-
FGF20-
-
-
-
3Gain-
FGF21-
-
-
-
1Loss-
FGF3-
-
-
-
3Gain-
FGF4-
-
-
-
3Gain-
FGF7-
-
-
-
3Gain-
FGF8-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
3Gain-
FGFR2-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGL1-
-
-
-
3Gain-
FH-
-
-
-
3Gain-
FHIT-
-
-
-
1Loss-
FHL3-
-
-
-
3Gain-
FHOD3-
-
-
-
6Amp-
FIBIN-
-
-
-
1Loss-
FIBP-
-
-
-
3Gain-
FICD-
-
-
-
3Gain-
FIGNp.G552A
Missense
SNP
1.000
2--
FIGNL2-
-
-
-
3Gain-
FIP1L1-
-
-
-
3Gain-
FITM1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FIZ1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP10-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP15-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP2-
-
-
-
3Gain-
FKBP3-
-
-
-
8Amp-
FKBP8-
-
-
-
3Gain-
FKRP-
-
-
-
1Loss-
FKTN-
-
-
-
3Gain-
FLCN-
-
-
-
3Gain-
FLGp.G1229R
Missense
SNP
0.662
2--
FLI1-
-
-
-
3Gain-
FLII-
-
-
-
3Gain-
FLOT2-
-
-
-
3Gain-
FLRT1p.L439M
Missense
SNP
0.471
3Gain-
FLRT2p.W454L
Missense
SNP
1.000
1Loss-
FLRT3-
-
-
-
3Gain-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FLT3LG-
-
-
-
1Loss-
FLVCR1-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FMN2p.G928*
Nonsense
SNP
1.000
3Gain-
FMNL1-
-
-
-
3Gain-
FMNL3-
-
-
-
3Gain-
FMOD-
-
-
-
1Loss-
FN3K-
-
-
-
3Gain-
FN3KRP-
-
-
-
3Gain-
FNBP1-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC3B-
-
-
-
1Loss-
FNDC7-
-
-
-
1Loss-
FNDC8-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
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-
-
-
-
16Amp-
FOXA2-
-
-
-
3Gain-
FOXA3-
-
-
-
1Loss-
FOXB1-
-
-
-
3Gain-
FOXB2-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE1-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXF1-
-
-
-
1Loss-
FOXG1-
-
-
-
11Amp-
FOXI1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXJ3-
-
-
-
3Gain-
FOXK2-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXN1-
-
-
-
3Gain-
FOXN3-
-
-
-
1Loss-
FOXN4-
-
-
-
3Gain-
FOXO1-
-
-
-
3Gain-
FOXO6-
-
-
-
3Gain-
FOXP1-
-
-
-
1Loss-
FOXR1-
-
-
-
3Gain-
FOXRED1-
-
-
-
3Gain-
FOXS1-
-
-
-
1Loss-
FP565260.1-
-
-
-
3Gain-
FP565260.2-
-
-
-
3Gain-
FP565260.3-
-
-
-
3Gain-
FP565260.4-
-
-
-
3Gain-
FP565260.6-
-
-
-
3Gain-
FPGS-
-
-
-
3Gain-
FPGTp.D265Y
Missense
SNP
0.401
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-
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FRZB-
-
-
-
1Loss-
FSBP-
-
-
-
6Amp-
FSCB-
-
-
-
8Amp-
FSCN2-
-
-
-
3Gain-
FSD1L-
-
-
-
3Gain-
FSHB-
-
-
-
1Loss-
FSIP2-
-
-
-
1Loss-
FTCD-
-
-
-
3Gain-
FTH1-
-
-
-
3Gain-
FTL-
-
-
-
1Loss-
FTO-
-
-
-
3Gain-
FTSJ3-
-
-
-
3Gain-
FUBP1-
-
-
-
3Gain-
FUOM-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FUT1-
-
-
-
1Loss-
FUT10-
-
-
-
3Gain-
FUT11-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT4-
-
-
-
3Gain-
FUT8-
-
-
-
1Loss-
FUZ-
-
-
-
1Loss-
FXN-
-
-
-
3Gain-
FXR1-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD2-
-
-
-
3Gain-
FXYD3-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD6-
-
-
-
3Gain-
FXYD6-FXYD2-
-
-
-
3Gain-
FXYD7-
-
-
-
1Loss-
FYB1-
-
-
-
6Amp-
FYB2-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
1Loss-
FZD10-
-
-
-
3Gain-
FZD2-
-
-
-
3Gain-
FZD3-
-
-
-
3Gain-
FZD4-
-
-
-
3Gain-
FZD6-
-
-
-
3Gain-
FZD8-
-
-
-
3Gain-
G0S2-
-
-
-
1Loss-
G2E3-
-
-
-
11Amp-
G3BP1-
-
-
-
1Loss-
G6PC-
-
-
-
3Gain-
G6PC3-
-
-
-
3Gain-
GAA-
-
-
-
3Gain-
GAB2-
-
-
-
3Gain-
GAB4-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPA-
-
-
-
3Gain-
GABPB1-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA5p.P131S
Missense
SNP
0.435
3Gain-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
3Gain-
GABRD-
-
-
-
3Gain-
GABRG2-
-
-
-
1Loss-
GABRG3p.P450N
Missense
MNP
0.447
3Gain-
GABRP-
-
-
-
1Loss-
GAD2-
-
-
-
3Gain-
GADD45A-
-
-
-
3Gain-
GADD45G-
-
-
-
3Gain-
GADL1-
-
-
-
1Loss-
GAL-
-
-
-
3Gain-
GAL3ST3-
-
-
-
3Gain-
GALC-
-
-
-
1Loss-
GALK1-
-
-
-
3Gain-
GALK2-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
6Amp-
GALNT10-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT15p.M268R
Missense
SNP
1.000
1Loss-
GALNT16-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALNT6-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GALP-
-
-
-
1Loss-
GALR1p.L211Pfs*13
Frame_Shift_Del
DEL
0.362
6Amp-
GALR2-
-
-
-
3Gain-
GALT-
-
-
-
3Gain-
GANAB-
-
-
-
3Gain-
GAPDHS-
-
-
-
1Loss-
GAPVD1-
-
-
-
3Gain-
GAREM1-
-
-
-
6Amp-
GARNL3-
-
-
-
3Gain-
GART-
-
-
-
3Gain-
GAS1p.D129H
Missense
SNP
0.409
3Gain-
GAS2-
-
-
-
1Loss-
GAS2L2-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GAST-
-
-
-
3Gain-
GATA3-
-
-
-
3Gain-
GATA4-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD2A-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GATD3A-
-
-
-
3Gain-
GATD3B-
-
-
-
3Gain-
GATM-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBE1-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBGT1p.E198*
Nonsense
SNP
0.332
2--
GBP1-
-
-
-
3Gain-
GBP2-
-
-
-
3Gain-
GBP3-
-
-
-
3Gain-
GBP4-
-
-
-
3Gain-
GBP5-
-
-
-
3Gain-
GBP6-
-
-
-
3Gain-
GBP7-
-
-
-
3Gain-
GCp.X177_splice
Splice_Site
SNP
0.317
2--
GCDH-
-
-
-
3Gain-
GCGR-
-
-
-
3Gain-
GCH1-
-
-
-
1Loss-
GCN1-
-
-
-
3Gain-
GCNT1-
-
-
-
3Gain-
GCNT3-
-
-
-
3Gain-
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
3Gain-
GCSAML-
-
-
-
5Amp-
GCSAML-AS1-
-
-
-
5Amp-
GDA-
-
-
-
3Gain-
GDAP1-
-
-
-
6Amp-
GDAP1L1-
-
-
-
3Gain-
GDAP2-
-
-
-
1Loss-
GDE1-
-
-
-
1Loss-
GDF1-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF11-
-
-
-
3Gain-
GDF15-
-
-
-
3Gain-
GDF2-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
6Amp-
GDI2-
-
-
-
3Gain-
GDNF-
-
-
-
6Amp-
GDPD1-
-
-
-
3Gain-
GDPD3-
-
-
-
1Loss-
GDPD4-
-
-
-
3Gain-
GDPD5-
-
-
-
3Gain-
GEM-
-
-
-
6Amp-
GEMIN2-
-
-
-
10Amp-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GFAP-
-
-
-
3Gain-
GFRA1-
-
-
-
1Loss-
GFRA2-
-
-
-
3Gain-
GFRA4-
-
-
-
3Gain-
GFY-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGH-
-
-
-
6Amp-
GGN-
-
-
-
1Loss-
GGNBP2-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHDC-
-
-
-
3Gain-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
6Amp-
GHRH-
-
-
-
3Gain-
GHRL-
-
-
-
3Gain-
GHSR-
-
-
-
1Loss-
GID4-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GIF-
-
-
-
3Gain-
GIMAP6p.D259Y
Missense
SNP
1.000
2--
GINS1-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
3Gain-
GINS4-
-
-
-
1Loss-
GIP-
-
-
-
3Gain-
GIPC1-
-
-
-
3Gain-
GIPC2-
-
-
-
3Gain-
GIPR-
-
-
-
1Loss-
GIT1-
-
-
-
3Gain-
GIT2-
-
-
-
3Gain-
GJA1p.R153P
Missense
SNP
1.000
2--
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJC1-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJD3-
-
-
-
3Gain-
GJD4-
-
-
-
3Gain-
GKAP1-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L2-
-
-
-
3Gain-
GLB1L3-
-
-
-
3Gain-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
3Gain-
GLE1-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIPR2-
-
-
-
3Gain-
GLIS1-
-
-
-
3Gain-
GLIS2-
-
-
-
1Loss-
GLIS3-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP1Rp.S49Y
Missense
SNP
1.000
2--
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA2p.R153Q
Missense
SNP
1.000
NDND-
GLRX2-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLTPD2-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYAT-
-
-
-
3Gain-
GLYATL1-
-
-
-
3Gain-
GLYATL1B-
-
-
-
3Gain-
GLYATL2-
-
-
-
3Gain-
GLYR1-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
3Gain-
GMNC-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA13-
-
-
-
3Gain-
GNA14-
-
-
-
3Gain-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNAO1-
-
-
-
3Gain-
GNAQ-
-
-
-
3Gain-
GNAS-
-
-
-
3Gain-
GNAT2-
-
-
-
1Loss-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB4-
-
-
-
1Loss-
GNB5-
-
-
-
3Gain-
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
3Gain-
GNG12-
-
-
-
3Gain-
GNG2-
-
-
-
1Loss-
GNG3-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
3Gain-
GNG8-
-
-
-
1Loss-
GNGT2-
-
-
-
3Gain-
GNL2-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPNAT1-
-
-
-
1Loss-
GNPTAB-
-
-
-
3Gain-
GNRH1-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA6B-
-
-
-
6Amp-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
3Gain-
GOLGA7-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8M-
-
-
-
3Gain-
GOLGA8S-
-
-
-
1Loss-
GOLIM4-
-
-
-
1Loss-
GOLM1-
-
-
-
3Gain-
GOLPH3-
-
-
-
6Amp-
GOLT1A-
-
-
-
1Loss-
GOLT1B-
-
-
-
3Gain-
GON7-
-
-
-
1Loss-
GORASP1-
-
-
-
1Loss-
GOSR1-
-
-
-
3Gain-
GOSR2-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP2p.S441N
Missense
SNP
0.991
1Loss-
GP5-
-
-
-
1Loss-
GP6-
-
-
-
1Loss-
GPALPP1-
-
-
-
3Gain-
GPAM-
-
-
-
1Loss-
GPAT2-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH2-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPATCH8-
-
-
-
3Gain-
GPBP1L1-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPCPD1-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPHA2-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPN3-
-
-
-
3Gain-
GPR107-
-
-
-
3Gain-
GPR108-
-
-
-
3Gain-
GPR12-
-
-
-
3Gain-
GPR135-
-
-
-
1Loss-
GPR137-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR137C-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR152-
-
-
-
3Gain-
GPR153-
-
-
-
3Gain-
GPR158p.L464H
Missense
SNP
0.516
3Gain-
GPR160-
-
-
-
1Loss-
GPR179-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
3Gain-
GPR183-
-
-
-
1Loss-
GPR21-
-
-
-
3Gain-
GPR25-
-
-
-
1Loss-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR32p.A98D
Missense
SNP
1.000
1Loss-
GPR33-
-
-
-
11Amp-
GPR37L1-
-
-
-
1Loss-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR83-
-
-
-
3Gain-
GPR84-
-
-
-
3Gain-
GPR88p.W302C
Missense
SNP
0.727
2--
GPRC5B-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRIN2-
-
-
-
1Loss-
GPS1-
-
-
-
3Gain-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX7-
-
-
-
3Gain-
GRAMD1A-
-
-
-
1Loss-
GRAMD1Bp.N443Y
Missense
SNP
0.352
3Gain-
GRAMD2A-
-
-
-
6Amp-
GRAP-
-
-
-
3Gain-
GRAP2p.A322P
Missense
SNP
1.000
2--
GRAPL-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRB2-
-
-
-
3Gain-
GRB7-
-
-
-
3Gain-
GREB1Lp.T923N
Missense
SNP
0.488
3Gain-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHPR-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRIA4-
-
-
-
3Gain-
GRID1-
-
-
-
1Loss-
GRIK1-
-
-
-
3Gain-
GRIK3-
-
-
-
3Gain-
GRIK4p.T136N
p.K230N
Missense
Missense
SNP
SNP
0.364
0.427
3Gain-
GRIK5-
-
-
-
1Loss-
GRIN2A-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRIN2Dp.N764del
In_Frame_Del
DEL
1.000
1Loss-
GRIN3A-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRIP2-
-
-
-
3Gain-
GRK1-
-
-
-
1Loss-
GRK2-
-
-
-
3Gain-
GRK5-
-
-
-
1Loss-
GRM5p.Q159K
Missense
SNP
0.511
3Gain-
GRM7-
-
-
-
3Gain-
GRM8p.P12T
Missense
SNP
1.000
2--
GRN-
-
-
-
3Gain-
GRP-
-
-
-
6Amp-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GRWD1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSC2-
-
-
-
3Gain-
GSDMA-
-
-
-
3Gain-
GSDMB-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSN-
-
-
-
3Gain-
GSPT1-
-
-
-
1Loss-
GSR-
-
-
-
3Gain-
GSS-
-
-
-
3Gain-
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-
GSX2-
-
-
-
3Gain-
GTF2A1-
-
-
-
1Loss-
GTF2A2-
-
-
-
3Gain-
GTF2B-
-
-
-
3Gain-
GTF2E2-
-
-
-
3Gain-
GTF2F1-
-
-
-
3Gain-
GTF2F2-
-
-
-
3Gain-
GTF2H1-
-
-
-
1Loss-
GTF2H3-
-
-
-
3Gain-
GTF3A-
-
-
-
3Gain-
GTF3C1-
-
-
-
1Loss-
GTPBP3-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GTSF1L-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GUCY1A2-
-
-
-
3Gain-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GULP1-
-
-
-
1Loss-
GVQW3-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYPAp.T31N
Missense
SNP
0.663
2--
GYPBp.T31N
Missense
SNP
0.162
2--
GYS1-
-
-
-
1Loss-
GYS2-
-
-
-
3Gain-
GZF1-
-
-
-
3Gain-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
H1FNT-
-
-
-
3Gain-
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-
HAND1-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAP1-
-
-
-
3Gain-
HAPLN4-
-
-
-
3Gain-
HARBI1-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
6Amp-
HAUS4-
-
-
-
3Gain-
HAUS5-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HAUS8-
-
-
-
3Gain-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCK-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HCRT-
-
-
-
3Gain-
HCST-
-
-
-
1Loss-
HDAC11-
-
-
-
3Gain-
HDAC3-
-
-
-
1Loss-
HDAC5-
-
-
-
3Gain-
HDAC7-
-
-
-
3Gain-
HDAC9p.R950G
Missense
SNP
1.000
2--
HDC-
-
-
-
3Gain-
HDHD2-
-
-
-
6Amp-
HDHD3-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
11Amp-
HEATR6-
-
-
-
3Gain-
HEATR9-
-
-
-
3Gain-
HECTD1-
-
-
-
11Amp-
HECTD2-
-
-
-
1Loss-
HECTD3-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HELB-
-
-
-
3Gain-
HELLS-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HELZ2-
-
-
-
3Gain-
HEMGN-
-
-
-
3Gain-
HENMT1-
-
-
-
1Loss-
HEPACAM-
-
-
-
3Gain-
HEPHL1-
-
-
-
3Gain-
HEPN1-
-
-
-
3Gain-
HERC1-
-
-
-
3Gain-
HERC2p.E3127Q
Missense
SNP
0.459
3Gain-
HERC4-
-
-
-
1Loss-
HERPUD1-
-
-
-
3Gain-
HES1-
-
-
-
1Loss-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HEXA-
-
-
-
6Amp-
HEXDC-
-
-
-
3Gain-
HEXIM1-
-
-
-
3Gain-
HEXIM2-
-
-
-
3Gain-
HEY1-
-
-
-
6Amp-
HEYL-
-
-
-
3Gain-
HGFp.G169V
Missense
SNP
1.000
2--
HGS-
-
-
-
3Gain-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HHLA3-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
3Gain-
HID1-
-
-
-
3Gain-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIGD1B-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIGD2B-
-
-
-
6Amp-
HIKESHI-
-
-
-
3Gain-
HINFP-
-
-
-
3Gain-
HINT2-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK1-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIPK4-
-
-
-
1Loss-
HIRA-
-
-
-
3Gain-
HIRIP3-
-
-
-
1Loss-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP3-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLCS-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HLX-
-
-
-
1Loss-
HM13-
-
-
-
1Loss-
HMBOX1-
-
-
-
3Gain-
HMBS-
-
-
-
3Gain-
HMCN1p.T5042A
Missense
SNP
1.000
1Loss-
HMCN2p.L3266Wfs*20
p.R500M
Frame_Shift_Del
Missense
DEL
SNP
0.444
0.521
3Gain-
HMGA2-
-
-
-
3Gain-
HMGB1-
-
-
-
3Gain-
HMGCS1-
-
-
-
3Gain-
HMGCS2-
-
-
-
1Loss-
HMGN1-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
6Amp-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1A-
-
-
-
3Gain-
HNF1B-
-
-
-
3Gain-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
6Amp-
HNRNPA1-
-
-
-
3Gain-
HNRNPC-
-
-
-
3Gain-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPL-
-
-
-
1Loss-
HNRNPM-
-
-
-
5Amp-
HNRNPU-
-
-
-
3Gain-
HNRNPUL1-
-
-
-
1Loss-
HNRNPUL2-
-
-
-
3Gain-
HNRNPUL2-BSCL2-
-
-
-
3Gain-
HOGA1-
-
-
-
1Loss-
HOMER3-
-
-
-
3Gain-
HOMEZ-
-
-
-
3Gain-
HOOK1-
-
-
-
3Gain-
HOOK3-
-
-
-
1Loss-
HOPX-
-
-
-
0Del-
HOXA2p.E224D
Missense
SNP
1.000
2--
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
3Gain-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HOXC10p.A178S
Missense
SNP
0.485
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPCAL4-
-
-
-
3Gain-
HPD-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPN-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
3Gain-
HRASLS-
-
-
-
1Loss-
HRASLS2-
-
-
-
3Gain-
HRASLS5-
-
-
-
3Gain-
HRC-
-
-
-
1Loss-
HRCT1-
-
-
-
3Gain-
HRG-
-
-
-
1Loss-
HRH1-
-
-
-
3Gain-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
6Amp-
HRNR-
-
-
-
6Amp-
HS2ST1-
-
-
-
3Gain-
HS3ST2-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
3Gain-
HS3ST3B1-
-
-
-
3Gain-
HS3ST4-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
6Amp-
HSD11B1-
-
-
-
1Loss-
HSD17B1-
-
-
-
3Gain-
HSD17B11p.L216M
Missense
SNP
0.616
2--
HSD17B12-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B3p.X152_splice
Splice_Site
SNP
0.385
3Gain-
HSD17B6-
-
-
-
3Gain-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSD3B7-
-
-
-
1Loss-
HSDL1-
-
-
-
3Gain-
HSDL2-
-
-
-
3Gain-
HSF2BP-
-
-
-
3Gain-
HSF5-
-
-
-
3Gain-
HSP90B1-
-
-
-
3Gain-
HSPA12A-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA13-
-
-
-
3Gain-
HSPA14-
-
-
-
3Gain-
HSPA2-
-
-
-
1Loss-
HSPA5-
-
-
-
3Gain-
HSPA8-
-
-
-
3Gain-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
3Gain-
HSPB2-C11orf52-
-
-
-
3Gain-
HSPB6-
-
-
-
1Loss-
HSPB8-
-
-
-
3Gain-
HSPB9-
-
-
-
3Gain-
HSPBP1-
-
-
-
1Loss-
HSPH1-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1Ep.G294E
Missense
SNP
1.000
2--
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
3Gain-
HTR3A-
-
-
-
3Gain-
HTR3B-
-
-
-
3Gain-
HTR3C-
-
-
-
1Loss-
HTR3D-
-
-
-
1Loss-
HTR3E-
-
-
-
1Loss-
HTR7p.S359R
Missense
SNP
1.000
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HUNK-
-
-
-
3Gain-
HUWE1p.R1268L
Missense
SNP
1.000
NDND-
HVCN1-
-
-
-
3Gain-
HYDINp.E1254Rfs*4
Frame_Shift_Del
DEL
0.077
2--
HYI-
-
-
-
3Gain-
HYLS1-
-
-
-
3Gain-
HYOU1-
-
-
-
3Gain-
HYPK-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IARS-
-
-
-
3Gain-
IARS2-
-
-
-
1Loss-
IBA57-
-
-
-
3Gain-
ICAM1-
-
-
-
6Amp-
ICAM2-
-
-
-
3Gain-
ICAM3-
-
-
-
6Amp-
ICAM4-
-
-
-
6Amp-
ICAM5-
-
-
-
6Amp-
ICE1-
-
-
-
6Amp-
ICE2-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ICOSLG-
-
-
-
3Gain-
ID1-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER2-
-
-
-
3Gain-
IER3IP1-
-
-
-
6Amp-
IER5L-
-
-
-
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI30-
-
-
-
3Gain-
IFI35-
-
-
-
3Gain-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNAR1-
-
-
-
3Gain-
IFNAR2-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNGR2-
-
-
-
3Gain-
IFNK-
-
-
-
3Gain-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFNW1-
-
-
-
3Gain-
IFT20-
-
-
-
3Gain-
IFT43-
-
-
-
1Loss-
IFT46-
-
-
-
3Gain-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT81-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF1R-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP1-
-
-
-
3Gain-
IGF2BP2-
-
-
-
1Loss-
IGFBP4-
-
-
-
3Gain-
IGFBP6-
-
-
-
3Gain-
IGFBP7-
-
-
-
0Del-
IGFBPL1-
-
-
-
3Gain-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGFN1-
-
-
-
1Loss-
IGHMBP2-
-
-
-
3Gain-
IGHV3OR16-9-
-
-
-
1Loss-
IGLL1-
-
-
-
3Gain-
IGLON5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
3Gain-
IGLV3-1p.S61Y
Missense
SNP
1.000
NDND-
IGSF10p.P853H
Missense
SNP
0.323
2--
IGSF22-
-
-
-
1Loss-
IGSF23-
-
-
-
1Loss-
IGSF3-
-
-
-
1Loss-
IGSF5-
-
-
-
3Gain-
IGSF6-
-
-
-
1Loss-
IGSF9B-
-
-
-
3Gain-
IKBIP-
-
-
-
3Gain-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
1Loss-
IKZF3p.Y425F
Missense
SNP
0.498
3Gain-
IKZF4-
-
-
-
3Gain-
IKZF5-
-
-
-
1Loss-
IL10-
-
-
-
1Loss-
IL10RA-
-
-
-
3Gain-
IL10RB-
-
-
-
3Gain-
IL11-
-
-
-
1Loss-
IL11RA-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL12RB1-
-
-
-
3Gain-
IL12RB2-
-
-
-
3Gain-
IL15RA-
-
-
-
3Gain-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17RC-
-
-
-
3Gain-
IL17RE-
-
-
-
3Gain-
IL18-
-
-
-
3Gain-
IL18BP-
-
-
-
3Gain-
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL19-
-
-
-
1Loss-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RAP-
-
-
-
1Loss-
IL1RAPL1p.P672T
Missense
SNP
1.000
NDND-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL20-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL23R-
-
-
-
3Gain-
IL24-
-
-
-
1Loss-
IL25-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL27-
-
-
-
1Loss-
IL27RA-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
IL33-
-
-
-
3Gain-
IL4I1-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL5RA-
-
-
-
3Gain-
IL7-
-
-
-
6Amp-
IL7R-
-
-
-
6Amp-
ILF3-
-
-
-
6Amp-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
3Gain-
IMMP1L-
-
-
-
1Loss-
IMPA1-
-
-
-
6Amp-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
6Amp-
IMPAD1-
-
-
-
6Amp-
INA-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
INAVA-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
3Gain-
ING1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INIP-
-
-
-
3Gain-
INKA2-
-
-
-
1Loss-
INO80C-
-
-
-
6Amp-
INO80E-
-
-
-
1Loss-
INPP4A-
-
-
-
3Gain-
INPP4Bp.D674Y
Missense
SNP
0.354
2--
INPP5A-
-
-
-
1Loss-
INPP5B-
-
-
-
3Gain-
INPP5F-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INPPL1-
-
-
-
3Gain-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSL3-
-
-
-
3Gain-
INSL4-
-
-
-
3Gain-
INSL5-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSM1-
-
-
-
3Gain-
INSM2-
-
-
-
6Amp-
INSR-
-
-
-
3Gain-
INSYN1-
-
-
-
3Gain-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS10-
-
-
-
3Gain-
INTS11-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
3Gain-
INTS4-
-
-
-
3Gain-
INTS5-
-
-
-
3Gain-
INTS7-
-
-
-
1Loss-
INTS8-
-
-
-
6Amp-
INTS9-
-
-
-
3Gain-
INTUp.Q554H
Missense
SNP
0.350
2--
INVS-
-
-
-
3Gain-
IPMK-
-
-
-
1Loss-
IPO13-
-
-
-
3Gain-
IPO4-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO8p.V862F
Missense
SNP
0.453
3Gain-
IPO9-
-
-
-
1Loss-
IPP-
-
-
-
3Gain-
IPPK-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQCG-
-
-
-
1Loss-
IQCH-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IQCN-
-
-
-
3Gain-
IQSEC1-
-
-
-
3Gain-
IQSEC2p.S1312*
Frame_Shift_Del
DEL
1.000
NDND-
IRAK2-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRF2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF6-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRX1-
-
-
-
6Amp-
IRX2-
-
-
-
6Amp-
IRX3-
-
-
-
3Gain-
IRX4-
-
-
-
6Amp-
IRX5-
-
-
-
3Gain-
IRX6-
-
-
-
3Gain-
ISCA1-
-
-
-
3Gain-
ISCA2-
-
-
-
1Loss-
ISCU-
-
-
-
3Gain-
ISG15-
-
-
-
3Gain-
ISM1-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISOC2-
-
-
-
1Loss-
ISYNA1-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA11-
-
-
-
3Gain-
ITGA2B-
-
-
-
3Gain-
ITGA3-
-
-
-
3Gain-
ITGA4-
-
-
-
1Loss-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA8p.A24S
Missense
SNP
0.444
3Gain-
ITGA9-
-
-
-
1Loss-
ITGAD-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAMp.F823del
In_Frame_Del
DEL
0.927
1Loss-
ITGAV-
-
-
-
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB1-
-
-
-
3Gain-
ITGB2-
-
-
-
3Gain-
ITGB3-
-
-
-
3Gain-
ITGB3BP-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
3Gain-
ITPA-
-
-
-
3Gain-
ITPK1-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPKC-
-
-
-
1Loss-
ITPR1-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
ITPRID2-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
1Loss-
ITSN1-
-
-
-
3Gain-
IZUMO1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
3Gain-
IZUMO2-
-
-
-
1Loss-
IZUMO3-
-
-
-
3Gain-
JAG1-
-
-
-
3Gain-
JAGN1-
-
-
-
3Gain-
JAK1-
-
-
-
3Gain-
JAK2-
-
-
-
3Gain-
JAK3-
-
-
-
3Gain-
JAKMIP3-
-
-
-
1Loss-
JAM2-
-
-
-
3Gain-
JAM3-
-
-
-
3Gain-
JAML-
-
-
-
3Gain-
JCAD-
-
-
-
3Gain-
JDP2-
-
-
-
1Loss-
JHY-
-
-
-
3Gain-
JKAMP-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD6-
-
-
-
3Gain-
JOSD2-
-
-
-
1Loss-
JPH1-
-
-
-
6Amp-
JPH2-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
3Gain-
JPT1-
-
-
-
3Gain-
JRKL-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
JUND-
-
-
-
3Gain-
JUP-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANK2-
-
-
-
3Gain-
KANK3-
-
-
-
5Amp-
KANK4-
-
-
-
3Gain-
KANSL1-
-
-
-
3Gain-
KANSL2-
-
-
-
3Gain-
KANSL3-
-
-
-
3Gain-
KAT14-
-
-
-
3Gain-
KAT2A-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT5-
-
-
-
3Gain-
KAT6A-
-
-
-
1Loss-
KAT6B-
-
-
-
1Loss-
KAT7-
-
-
-
3Gain-
KAT8-
-
-
-
1Loss-
KATNAL1-
-
-
-
3Gain-
KATNAL2-
-
-
-
6Amp-
KATNB1-
-
-
-
3Gain-
KAZALD1-
-
-
-
1Loss-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD13-
-
-
-
3Gain-
KBTBD3-
-
-
-
3Gain-
KBTBD4-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNA5p.P66T
Missense
SNP
0.990
2--
KCNA7-
-
-
-
1Loss-
KCNAB2-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
6Amp-
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
3Gain-
KCNC3-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNE1-
-
-
-
3Gain-
KCNE1B-
-
-
-
3Gain-
KCNE2-
-
-
-
3Gain-
KCNE3-
-
-
-
3Gain-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
6Amp-
KCNG4-
-
-
-
1Loss-
KCNH1-
-
-
-
1Loss-
KCNH3-
-
-
-
3Gain-
KCNH4-
-
-
-
3Gain-
KCNH5-
-
-
-
1Loss-
KCNH6-
-
-
-
3Gain-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP3-
-
-
-
1Loss-
KCNJ1-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ12p.Q231Afs*42
Frame_Shift_Del
DEL
0.421
3Gain-
KCNJ14-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ5-
-
-
-
3Gain-
KCNJ6-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNK2p.M2T
Missense
SNP
1.000
1Loss-
KCNK4-
-
-
-
3Gain-
KCNK6-
-
-
-
1Loss-
KCNK7-
-
-
-
3Gain-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
1Loss-
KCNMB3-
-
-
-
1Loss-
KCNMB4-
-
-
-
3Gain-
KCNN1-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ3p.M632I
Missense
SNP
0.483
3Gain-
KCNQ4-
-
-
-
3Gain-
KCNQ5p.W393C;p.K394Q
Missense
MNP
1.000
2--
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
6Amp-
KCNT1p.X112_splice
Splice_Site
SNP
0.337
2--
KCNT2-
-
-
-
1Loss-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KCTD1-
-
-
-
6Amp-
KCTD10-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD13-
-
-
-
1Loss-
KCTD14-
-
-
-
3Gain-
KCTD15-
-
-
-
1Loss-
KCTD16p.G32E
Missense
SNP
1.000
2--
KCTD2-
-
-
-
3Gain-
KCTD21-
-
-
-
3Gain-
KCTD3-
-
-
-
1Loss-
KCTD4-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
3Gain-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
3Gain-
KDELR1-
-
-
-
1Loss-
KDM2A-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM4A-
-
-
-
3Gain-
KDM4C-
-
-
-
3Gain-
KDM4D-
-
-
-
3Gain-
KDM4E-
-
-
-
3Gain-
KDM4F-
-
-
-
3Gain-
KDM5B-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDM8-
-
-
-
1Loss-
KDR-
-
-
-
0Del-
KDSR-
-
-
-
6Amp-
KEAP1-
-
-
-
6Amp-
KERA-
-
-
-
3Gain-
KHDRBS3-
-
-
-
6Amp-
KHNYN-
-
-
-
1Loss-
KHSRP-
-
-
-
3Gain-
KIAA0100-
-
-
-
3Gain-
KIAA0232p.V313F
Missense
SNP
0.615
2--
KIAA0355-
-
-
-
1Loss-
KIAA0391-
-
-
-
6Amp-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1211-
-
-
-
0Del-
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
3Gain-
KIAA1324-
-
-
-
1Loss-
KIAA1328-
-
-
-
6Amp-
KIAA1549L-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIAA1958-
-
-
-
3Gain-
KIAA2026-
-
-
-
3Gain-
KIF11-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF13B-
-
-
-
3Gain-
KIF14-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17p.S290L
Missense
SNP
0.136
2--
KIF18A-
-
-
-
1Loss-
KIF18B-
-
-
-
3Gain-
KIF19-
-
-
-
3Gain-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
3Gain-
KIF21B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF23-
-
-
-
3Gain-
KIF24-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF27-
-
-
-
3Gain-
KIF2B-
-
-
-
3Gain-
KIF2C-
-
-
-
3Gain-
KIF3B-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
3Gain-
KIF5B-
-
-
-
3Gain-
KIFAP3p.Q622*
Nonsense
SNP
0.975
2--
KIFC2p.H576Q
Missense
SNP
1.000
2--
KIFC3-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KIR2DL1p.P117T
Missense
SNP
0.395
1Loss-
KIR2DL3-
-
-
-
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL2-
-
-
-
1Loss-
KIRREL3-
-
-
-
3Gain-
KISS1-
-
-
-
1Loss-
KIT-
-
-
-
3Gain-
KITLG-
-
-
-
3Gain-
KIZ-
-
-
-
3Gain-
KL-
-
-
-
3Gain-
KLB-
-
-
-
1Loss-
KLC2-
-
-
-
3Gain-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF12-
-
-
-
1Loss-
KLF17-
-
-
-
3Gain-
KLF3-
-
-
-
1Loss-
KLF4-
-
-
-
3Gain-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
3Gain-
KLF9-
-
-
-
3Gain-
KLHDC1-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC8A-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL12-
-
-
-
1Loss-
KLHL14-
-
-
-
6Amp-
KLHL17-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
1Loss-
KLHL26-
-
-
-
3Gain-
KLHL28-
-
-
-
8Amp-
KLHL33-
-
-
-
3Gain-
KLHL35-
-
-
-
3Gain-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL42-
-
-
-
3Gain-
KLHL5-
-
-
-
1Loss-
KLHL6-
-
-
-
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-
KMO-
-
-
-
3Gain-
KMT2A-
-
-
-
3Gain-
KMT2B-
-
-
-
1Loss-
KMT2D-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KMT5B-
-
-
-
3Gain-
KMT5C-
-
-
-
1Loss-
KNCN-
-
-
-
3Gain-
KNDC1p.D161V
Missense
SNP
1.000
1Loss-
KNG1-
-
-
-
1Loss-
KNOP1-
-
-
-
1Loss-
KNTC1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNB1-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRAS-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRI1-
-
-
-
6Amp-
KRR1-
-
-
-
3Gain-
KRT1p.G547D
Missense
SNP
0.508
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
0.486
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
0.437
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-
KRTAP5-10-
-
-
-
3Gain-
KRTAP5-11-
-
-
-
3Gain-
KRTAP5-7-
-
-
-
3Gain-
KRTAP5-8-
-
-
-
3Gain-
KRTAP5-9p.G16V
Missense
SNP
0.459
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-
KRTDAP-
-
-
-
1Loss-
KSR1-
-
-
-
3Gain-
KSR2-
-
-
-
3Gain-
KTI12-
-
-
-
3Gain-
KTN1-
-
-
-
1Loss-
KXD1-
-
-
-
3Gain-
KYAT1-
-
-
-
3Gain-
KYAT3-
-
-
-
3Gain-
L1TD1-
-
-
-
3Gain-
L2HGDH-
-
-
-
1Loss-
L34079.1-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
3Gain-
LACRT-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LACTB2-
-
-
-
6Amp-
LAD1-
-
-
-
1Loss-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LALBA-
-
-
-
3Gain-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
6Amp-
LAMA5-
-
-
-
3Gain-
LAMB3-
-
-
-
1Loss-
LAMC3p.C807Afs*77
Frame_Shift_Del
DEL
0.658
2--
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
1Loss-
LAMP5-
-
-
-
3Gain-
LAMTOR1-
-
-
-
3Gain-
LAMTOR5-
-
-
-
1Loss-
LAPTM4B-
-
-
-
6Amp-
LARGE2-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
3Gain-
LARP4B-
-
-
-
3Gain-
LARP6-
-
-
-
3Gain-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
3Gain-
LAT-
-
-
-
1Loss-
LAX1-
-
-
-
1Loss-
LAYN-
-
-
-
3Gain-
LBHD1-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LCA5L-
-
-
-
3Gain-
LCMT1-
-
-
-
1Loss-
LCN2-
-
-
-
3Gain-
LCOR-
-
-
-
1Loss-
LCP1-
-
-
-
3Gain-
LCP2-
-
-
-
1Loss-
LCTp.G407W
Missense
SNP
0.990
2--
LCTL-
-
-
-
3Gain-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
3Gain-
LDHB-
-
-
-
3Gain-
LDHC-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LDLRAD3-
-
-
-
1Loss-
LDLRAD4-
-
-
-
3Gain-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEMD1-
-
-
-
1Loss-
LEMD3p.W197C
Missense
SNP
0.468
3Gain-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEO1-
-
-
-
3Gain-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LEPROTL1-
-
-
-
3Gain-
LETM2-
-
-
-
1Loss-
LETMD1-
-
-
-
3Gain-
LEUTX-
-
-
-
1Loss-
LEXM-
-
-
-
3Gain-
LGALS12-
-
-
-
3Gain-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS3BP-
-
-
-
3Gain-
LGALS4-
-
-
-
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9-
-
-
-
3Gain-
LGALS9B-
-
-
-
3Gain-
LGALS9C-
-
-
-
3Gain-
LGI1-
-
-
-
1Loss-
LGI3-
-
-
-
3Gain-
LGI4-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGR5-
-
-
-
3Gain-
LGR6-
-
-
-
1Loss-
LHB-
-
-
-
1Loss-
LHFPL4-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LHPP-
-
-
-
1Loss-
LHX1-
-
-
-
3Gain-
LHX2-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LHX6-
-
-
-
3Gain-
LHX8-
-
-
-
3Gain-
LHX9-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIFR-
-
-
-
6Amp-
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-
LIN37-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7A-
-
-
-
3Gain-
LIN7B-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
1Loss-
LINC02210-CRHR1-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LINS1-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
3Gain-
LIPE-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
6Amp-
LIPH-
-
-
-
1Loss-
LIPIp.G258V
Missense
SNP
0.538
3Gain-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
3Gain-
LIPT2-
-
-
-
3Gain-
LITAF-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLGL1-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMAN1-
-
-
-
6Amp-
LMAN2L-
-
-
-
3Gain-
LMBR1Lp.X257_splice
Splice_Site
SNP
0.491
3Gain-
LMBRD2-
-
-
-
6Amp-
LMCD1-
-
-
-
3Gain-
LMLN-
-
-
-
1Loss-
LMLN2-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO4-
-
-
-
3Gain-
LMO7p.Q433L
Missense
SNP
0.993
1Loss-
LMOD1-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMTK3-
-
-
-
1Loss-
LMX1Bp.P300T
Missense
SNP
0.409
3Gain-
LNX1-
-
-
-
3Gain-
LNX2-
-
-
-
3Gain-
LONP2-
-
-
-
1Loss-
LONRF1-
-
-
-
3Gain-
LONRF2-
-
-
-
3Gain-
LOX-
-
-
-
3Gain-
LOXHD1-
-
-
-
6Amp-
LOXL1-
-
-
-
3Gain-
LOXL2-
-
-
-
3Gain-
LOXL4-
-
-
-
1Loss-
LPAR1-
-
-
-
3Gain-
LPAR2-
-
-
-
3Gain-
LPAR3-
-
-
-
3Gain-
LPCAT1-
-
-
-
6Amp-
LPCAT2-
-
-
-
3Gain-
LPGAT1-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
3Gain-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
1Loss-
LPXN-
-
-
-
3Gain-
LRCH1-
-
-
-
3Gain-
LRCH3-
-
-
-
1Loss-
LRCOL1-
-
-
-
3Gain-
LRFN1-
-
-
-
1Loss-
LRFN3-
-
-
-
1Loss-
LRFN4-
-
-
-
3Gain-
LRFN5-
-
-
-
8Amp-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIG3-
-
-
-
3Gain-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP10-
-
-
-
3Gain-
LRP12-
-
-
-
3Gain-
LRP1Bp.P2819N
p.L2010F
Missense
Missense
MNP
SNP
0.993
0.985
2--
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP5-
-
-
-
3Gain-
LRP8-
-
-
-
3Gain-
LRR1-
-
-
-
1Loss-
LRRC10-
-
-
-
3Gain-
LRRC10B-
-
-
-
3Gain-
LRRC15-
-
-
-
1Loss-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC25-
-
-
-
3Gain-
LRRC27-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC3-
-
-
-
3Gain-
LRRC30-
-
-
-
1Loss-
LRRC31-
-
-
-
1Loss-
LRRC32-
-
-
-
3Gain-
LRRC34-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC37B-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
3Gain-
LRRC40-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC45-
-
-
-
3Gain-
LRRC46-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC49-
-
-
-
3Gain-
LRRC4B-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC53-
-
-
-
3Gain-
LRRC55-
-
-
-
3Gain-
LRRC59p.T269R
Missense
SNP
0.495
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC66-
-
-
-
3Gain-
LRRC69-
-
-
-
6Amp-
LRRC7-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
3Gain-
LRRC75A-
-
-
-
3Gain-
LRRC8A-
-
-
-
3Gain-
LRRC8B-
-
-
-
3Gain-
LRRC8C-
-
-
-
3Gain-
LRRC8D-
-
-
-
3Gain-
LRRC8E-
-
-
-
3Gain-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
6Amp-
LRRFIP1p.V420L
Missense
SNP
0.714
2--
LRRFIP2-
-
-
-
1Loss-
LRRIQ1-
-
-
-
3Gain-
LRRIQ3-
-
-
-
3Gain-
LRRIQ4-
-
-
-
1Loss-
LRRK1-
-
-
-
1Loss-
LRRK2-
-
-
-
3Gain-
LRRN1-
-
-
-
3Gain-
LRRN2-
-
-
-
1Loss-
LRRN4-
-
-
-
3Gain-
LRRN4CL-
-
-
-
3Gain-
LRRTM3-
-
-
-
1Loss-
LRSAM1-
-
-
-
3Gain-
LRTOMT-
-
-
-
3Gain-
LSG1-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM10-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM12-
-
-
-
3Gain-
LSM14A-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LSM3-
-
-
-
3Gain-
LSM4-
-
-
-
3Gain-
LSR-
-
-
-
1Loss-
LSS-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP3-
-
-
-
3Gain-
LTBP4-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
3Gain-
LTO1-
-
-
-
3Gain-
LUC7L3-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LURAP1L-
-
-
-
3Gain-
LUZP2-
-
-
-
1Loss-
LY96-
-
-
-
6Amp-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYL1-
-
-
-
3Gain-
LYN-
-
-
-
6Amp-
LYPD3-
-
-
-
1Loss-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPD8-
-
-
-
5Amp-
LYPLA1-
-
-
-
6Amp-
LYPLAL1-
-
-
-
1Loss-
LYRM1-
-
-
-
1Loss-
LYRM9-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD4-
-
-
-
1Loss-
LYSTp.V3174L
Missense
SNP
0.058
3Gain-
LYZ-
-
-
-
3Gain-
LYZL1-
-
-
-
3Gain-
LYZL2-
-
-
-
3Gain-
LYZL4-
-
-
-
1Loss-
LYZL6-
-
-
-
3Gain-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
3Gain-
LZTS1-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
LZTS3-
-
-
-
3Gain-
MAB21L1-
-
-
-
3Gain-
MAB21L3-
-
-
-
1Loss-
MACF1-
-
-
-
3Gain-
MACROD1-
-
-
-
3Gain-
MACROD2-
-
-
-
3Gain-
MADD-
-
-
-
1Loss-
MAFB-
-
-
-
3Gain-
MAFG-
-
-
-
3Gain-
MAG-
-
-
-
1Loss-
MAGEA4p.S156Y
Missense
SNP
1.000
NDND-
MAGEF1-
-
-
-
1Loss-
MAGEL2p.P838T
p.S739*
Missense
Nonsense
SNP
SNP
1.000
1.000
1Loss-
MAGI1-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAGOH-
-
-
-
3Gain-
MAJIN-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MAL-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MALRD1-
-
-
-
3Gain-
MALT1-
-
-
-
6Amp-
MAMDC2-
-
-
-
3Gain-
MAML2-
-
-
-
3Gain-
MAMSTR-
-
-
-
1Loss-
MAN1A2-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANEAL-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP1S-
-
-
-
3Gain-
MAP2K1-
-
-
-
3Gain-
MAP2K3-
-
-
-
3Gain-
MAP2K4-
-
-
-
3Gain-
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP2K7-
-
-
-
3Gain-
MAP3K10-
-
-
-
1Loss-
MAP3K11-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K13-
-
-
-
1Loss-
MAP3K14-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K7CL-
-
-
-
3Gain-
MAP3K8-
-
-
-
3Gain-
MAP3K9-
-
-
-
1Loss-
MAP4K1-
-
-
-
1Loss-
MAP4K2-
-
-
-
3Gain-
MAP4K4-
-
-
-
3Gain-
MAP4K5-
-
-
-
1Loss-
MAP6-
-
-
-
3Gain-
MAP6D1-
-
-
-
1Loss-
MAP7D1-
-
-
-
3Gain-
MAPK1-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
-
-
6Amp-
MAPK6-
-
-
-
3Gain-
MAPK7-
-
-
-
3Gain-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
-
-
6Amp-
MAPT-
-
-
-
3Gain-
MARC1-
-
-
-
1Loss-
MARC2-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCH11-
-
-
-
6Amp-
MARCH2-
-
-
-
5Amp-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
6Amp-
MARCH8-
-
-
-
1Loss-
MARCH9-
-
-
-
3Gain-
MARF1-
-
-
-
1Loss-
MARK1-
-
-
-
1Loss-
MARK2-
-
-
-
3Gain-
MARK4-
-
-
-
1Loss-
MARS-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MASP1-
-
-
-
1Loss-
MAST2-
-
-
-
3Gain-
MAST3-
-
-
-
3Gain-
MASTL-
-
-
-
3Gain-
MAT1A-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN2-
-
-
-
6Amp-
MATN4-
-
-
-
3Gain-
MAU2-
-
-
-
3Gain-
MAVS-
-
-
-
3Gain-
MAX-
-
-
-
1Loss-
MAZ-
-
-
-
1Loss-
MB21D2-
-
-
-
1Loss-
MBD1p.X76_splice
Splice_Site
SNP
0.325
6Amp-
MBD2-
-
-
-
6Amp-
MBD3L1-
-
-
-
5Amp-
MBD3L3-
-
-
-
3Gain-
MBD3L4-
-
-
-
3Gain-
MBD3L5-
-
-
-
3Gain-
MBD6-
-
-
-
3Gain-
MBIP-
-
-
-
16Amp-
MBL2p.G86A
Missense
SNP
1.000
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-
-
-
-
1Loss-
MCEMP1-
-
-
-
3Gain-
MCF2L-
-
-
-
0Del-
MCF2L2-
-
-
-
1Loss-
MCM10-
-
-
-
3Gain-
MCM3AP-
-
-
-
3Gain-
MCM4-
-
-
-
1Loss-
MCM8-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCMDC2-
-
-
-
6Amp-
MCOLN1-
-
-
-
3Gain-
MCOLN2-
-
-
-
3Gain-
MCOLN3-
-
-
-
3Gain-
MCPH1-
-
-
-
3Gain-
MCRIP1-
-
-
-
3Gain-
MCRS1-
-
-
-
3Gain-
MCU-
-
-
-
1Loss-
MDGA2-
-
-
-
5Amp-
MDK-
-
-
-
1Loss-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MDM4-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
6Amp-
ME3-
-
-
-
3Gain-
MEAF6-
-
-
-
3Gain-
MECOM-
-
-
-
1Loss-
MECRp.C4S
Missense
SNP
1.000
2--
MED1-
-
-
-
3Gain-
MED10-
-
-
-
6Amp-
MED11-
-
-
-
1Loss-
MED13-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED17-
-
-
-
3Gain-
MED19-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED24-
-
-
-
3Gain-
MED25-
-
-
-
1Loss-
MED26-
-
-
-
3Gain-
MED29-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
3Gain-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MED9-
-
-
-
3Gain-
MEDAG-
-
-
-
3Gain-
MEF2A-
-
-
-
1Loss-
MEF2B-
-
-
-
3Gain-
MEGF11-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEGF8-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MEIOC-
-
-
-
3Gain-
MEIS3-
-
-
-
1Loss-
MELK-
-
-
-
3Gain-
MELTF-
-
-
-
1Loss-
MEN1-
-
-
-
3Gain-
MEOX1-
-
-
-
3Gain-
MEP1B-
-
-
-
6Amp-
METAP2-
-
-
-
3Gain-
METRNL-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
METTL22-
-
-
-
1Loss-
METTL23-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL2A-
-
-
-
3Gain-
METTL3-
-
-
-
3Gain-
METTL4-
-
-
-
1Loss-
METTL6-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL9-
-
-
-
1Loss-
MEX3C-
-
-
-
6Amp-
MFAP1-
-
-
-
3Gain-
MFAP3-
-
-
-
1Loss-
MFAP4-
-
-
-
3Gain-
MFHAS1-
-
-
-
3Gain-
MFN1-
-
-
-
1Loss-
MFRP-
-
-
-
3Gain-
MFSD11-
-
-
-
3Gain-
MFSD13A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD2A-
-
-
-
3Gain-
MFSD4A-
-
-
-
1Loss-
MFSD5-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MGAp.X698_splice
Splice_Site
SNP
0.991
2--
MGAT2-
-
-
-
1Loss-
MGAT4A-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGAT5B-
-
-
-
3Gain-
MGME1-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MIA2-
-
-
-
10Amp-
MIA3-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICAL3p.G1466C
Missense
SNP
0.571
3Gain-
MICU1-
-
-
-
1Loss-
MICU3-
-
-
-
3Gain-
MIEF2-
-
-
-
3Gain-
MIEN1-
-
-
-
3Gain-
MIER1-
-
-
-
3Gain-
MIF-
-
-
-
3Gain-
MIF4GD-
-
-
-
3Gain-
MIGA1-
-
-
-
3Gain-
MIGA2-
-
-
-
3Gain-
MILR1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIP-
-
-
-
3Gain-
MIPOL1-
-
-
-
16Amp-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
3Gain-
MIS18BP1-
-
-
-
8Amp-
MISP3-
-
-
-
3Gain-
MITD1-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKI67-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKNK1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MKRN3-
-
-
-
1Loss-
MKS1-
-
-
-
3Gain-
MKX-
-
-
-
3Gain-
MLANA-
-
-
-
3Gain-
MLEC-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLLT10-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLLT6-
-
-
-
3Gain-
MLX-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMACHC-
-
-
-
3Gain-
MMD-
-
-
-
3Gain-
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
0.312
2--
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MNS1-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOB3C-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
6Amp-
MOCS3p.V194L
Missense
SNP
0.489
3Gain-
MOGAT2-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORC3-
-
-
-
3Gain-
MORN1-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MORN4-
-
-
-
1Loss-
MORN5-
-
-
-
3Gain-
MOS-
-
-
-
6Amp-
MOSMO-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPEG1-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
3Gain-
MPL-
-
-
-
3Gain-
MPO-
-
-
-
3Gain-
MPP2-
-
-
-
3Gain-
MPP3-
-
-
-
3Gain-
MPP5-
-
-
-
1Loss-
MPP7-
-
-
-
3Gain-
MPPE1-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPRIP-
-
-
-
3Gain-
MPV17L-
-
-
-
1Loss-
MPV17L2-
-
-
-
3Gain-
MPZL2-
-
-
-
3Gain-
MPZL3-
-
-
-
3Gain-
MRAP-
-
-
-
3Gain-
MRAP2p.S17T
Missense
SNP
1.000
2--
MRC1p.A38G
p.A1156S
Missense
Missense
SNP
SNP
0.547
0.357
3Gain-
MRC2-
-
-
-
3Gain-
MRE11-
-
-
-
3Gain-
MREGp.G195W
Missense
SNP
1.000
2--
MRGBP-
-
-
-
3Gain-
MRGPRD-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
3Gain-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM1-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
6Amp-
MROH2B-
-
-
-
6Amp-
MROH5p.N25I
Missense
SNP
0.993
2--
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MRPL10-
-
-
-
3Gain-
MRPL11-
-
-
-
3Gain-
MRPL12-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
6Amp-
MRPL16-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
3Gain-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL27-
-
-
-
3Gain-
MRPL30-
-
-
-
3Gain-
MRPL34-
-
-
-
3Gain-
MRPL36-
-
-
-
6Amp-
MRPL37-
-
-
-
3Gain-
MRPL38-
-
-
-
3Gain-
MRPL39-
-
-
-
3Gain-
MRPL4-
-
-
-
6Amp-
MRPL40-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL43-
-
-
-
1Loss-
MRPL45-
-
-
-
3Gain-
MRPL47-
-
-
-
1Loss-
MRPL48-
-
-
-
3Gain-
MRPL49-
-
-
-
3Gain-
MRPL50-
-
-
-
3Gain-
MRPL52-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL58-
-
-
-
3Gain-
MRPS12-
-
-
-
1Loss-
MRPS15-
-
-
-
3Gain-
MRPS16-
-
-
-
1Loss-
MRPS23-
-
-
-
3Gain-
MRPS25-
-
-
-
3Gain-
MRPS26-
-
-
-
3Gain-
MRPS28-
-
-
-
6Amp-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MRPS5-
-
-
-
1Loss-
MRPS6-
-
-
-
3Gain-
MRPS7-
-
-
-
3Gain-
MRRF-
-
-
-
3Gain-
MRTFB-
-
-
-
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-
-
-
-
6Amp-
MSH4-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSI2-
-
-
-
3Gain-
MSL1-
-
-
-
3Gain-
MSMB-
-
-
-
1Loss-
MSMP-
-
-
-
3Gain-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MSS51-
-
-
-
1Loss-
MT1A-
-
-
-
3Gain-
MT1B-
-
-
-
3Gain-
MT1E-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
3Gain-
MT2A-
-
-
-
3Gain-
MT3-
-
-
-
3Gain-
MT4-
-
-
-
3Gain-
MTA2-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTBP-
-
-
-
3Gain-
MTCH2-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTDH-
-
-
-
6Amp-
MTERF2-
-
-
-
3Gain-
MTERF3-
-
-
-
6Amp-
MTF1-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTFR1-
-
-
-
6Amp-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTIF3-
-
-
-
3Gain-
MTMR11p.I133N
Missense
SNP
0.616
2--
MTMR12-
-
-
-
6Amp-
MTMR14-
-
-
-
3Gain-
MTMR2-
-
-
-
3Gain-
MTMR4-
-
-
-
3Gain-
MTMR7-
-
-
-
3Gain-
MTMR9p.X139_splice
Splice_Site
SNP
0.478
3Gain-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTRR-
-
-
-
6Amp-
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
3Gain-
MTUS2-
-
-
-
3Gain-
MUC15-
-
-
-
1Loss-
MUC16p.T7143S
Missense
SNP
0.990
5Amp-
MUC19-
-
-
-
3Gain-
MUC20-
-
-
-
1Loss-
MUC4-
-
-
-
1Loss-
MUC5Bp.X560_splice
Splice_Site
SNP
0.991
2--
MUCL1-
-
-
-
3Gain-
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-
-
-
-
6Amp-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
3Gain-
MYBPC2-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYBPH-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYC-
-
-
-
3Gain-
MYCBP-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCBPAP-
-
-
-
3Gain-
MYCL-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYEF2-
-
-
-
3Gain-
MYEOV-
-
-
-
3Gain-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH1p.E1906*
Nonsense
SNP
1.000
1Loss-
MYH10-
-
-
-
1Loss-
MYH11-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH14-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E36G
Missense
SNP
0.422
3Gain-
MYH7-
-
-
-
3Gain-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL2-
-
-
-
3Gain-
MYL4-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7p.D125Y
Missense
SNP
1.000
2--
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYLPF-
-
-
-
1Loss-
MYNN-
-
-
-
1Loss-
MYO10-
-
-
-
6Amp-
MYO15A-
-
-
-
3Gain-
MYO15B-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO18A-
-
-
-
3Gain-
MYO19-
-
-
-
3Gain-
MYO1A-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO1E-
-
-
-
3Gain-
MYO1F-
-
-
-
5Amp-
MYO1H-
-
-
-
3Gain-
MYO3A-
-
-
-
3Gain-
MYO5Ap.V1529G
p.A695S
Missense
Missense
SNP
SNP
0.510
0.430
3Gain-
MYO5B-
-
-
-
6Amp-
MYO5C-
-
-
-
3Gain-
MYO7Ap.R702L
p.R1708L
Missense
Missense
SNP
SNP
0.546
0.440
3Gain-
MYO9A-
-
-
-
6Amp-
MYO9B-
-
-
-
3Gain-
MYOCDp.S229C
Missense
SNP
0.493
3Gain-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOGp.R123L
Missense
SNP
0.992
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM2-
-
-
-
3Gain-
MYORG-
-
-
-
3Gain-
MYOZ1-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYRF-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MYRIP-
-
-
-
1Loss-
MYSM1-
-
-
-
3Gain-
MYT1-
-
-
-
3Gain-
MYZAP-
-
-
-
3Gain-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
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-
-
-
-
1Loss-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACA2-
-
-
-
3Gain-
NACC1-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NADK2-
-
-
-
6Amp-
NADSYN1-
-
-
-
3Gain-
NAGLU-
-
-
-
3Gain-
NAGPA-
-
-
-
1Loss-
NAGS-
-
-
-
3Gain-
NAIF1-
-
-
-
3Gain-
NALCN-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L4-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPG-
-
-
-
1Loss-
NAPSA-
-
-
-
1Loss-
NARF-
-
-
-
3Gain-
NARS-
-
-
-
6Amp-
NARS2-
-
-
-
3Gain-
NASP-
-
-
-
3Gain-
NAT1-
-
-
-
3Gain-
NAT10-
-
-
-
1Loss-
NAT14-
-
-
-
1Loss-
NAT2-
-
-
-
3Gain-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
3Gain-
NAV1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3p.S2111Rfs*12
Frame_Shift_Del
DEL
0.469
3Gain-
NAXD-
-
-
-
1Loss-
NBEAp.L164Ffs*2
Frame_Shift_Del
DEL
1.000
3Gain-
NBN-
-
-
-
7Amp-
NBPF26-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBR1-
-
-
-
3Gain-
NCALDp.G53V
Missense
SNP
1.000
3Gain-
NCAM1-
-
-
-
3Gain-
NCAM2-
-
-
-
3Gain-
NCAN-
-
-
-
3Gain-
NCAPD3-
-
-
-
3Gain-
NCAPH-
-
-
-
1Loss-
NCBP1-
-
-
-
3Gain-
NCBP2-
-
-
-
1Loss-
NCBP2-AS2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCCRP1-
-
-
-
1Loss-
NCEH1-
-
-
-
1Loss-
NCK1-
-
-
-
3Gain-
NCKAP1-
-
-
-
1Loss-
NCKAP1L-
-
-
-
3Gain-
NCKAP5Lp.S491I
Missense
SNP
0.454
3Gain-
NCLNp.S163F
Missense
SNP
0.387
2--
NCOA2p.R1221M
Missense
SNP
0.998
6Amp-
NCOA3-
-
-
-
3Gain-
NCOA4-
-
-
-
1Loss-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
3Gain-
NCOR2-
-
-
-
3Gain-
NCR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCS1-
-
-
-
3Gain-
NDC1-
-
-
-
3Gain-
NDC80-
-
-
-
1Loss-
NDE1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDRG4-
-
-
-
3Gain-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDUFA12-
-
-
-
3Gain-
NDUFA13-
-
-
-
3Gain-
NDUFA3-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
3Gain-
NDUFA7-
-
-
-
5Amp-
NDUFA8-
-
-
-
3Gain-
NDUFAB1-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
6Amp-
NDUFAF8-
-
-
-
3Gain-
NDUFB1-
-
-
-
1Loss-
NDUFB5-
-
-
-
1Loss-
NDUFB6-
-
-
-
3Gain-
NDUFB7-
-
-
-
3Gain-
NDUFB8-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFC2-
-
-
-
3Gain-
NDUFC2-KCTD14-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS5-
-
-
-
3Gain-
NDUFS6-
-
-
-
6Amp-
NDUFS8-
-
-
-
3Gain-
NDUFV1-
-
-
-
3Gain-
NDUFV2-
-
-
-
1Loss-
NDUFV3-
-
-
-
3Gain-
NEBL-
-
-
-
3Gain-
NECAB1-
-
-
-
6Amp-
NECAB3-
-
-
-
3Gain-
NECTIN1-
-
-
-
3Gain-
NECTIN2-
-
-
-
1Loss-
NEDD1-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEDD4L-
-
-
-
6Amp-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFHp.Q135E
Missense
SNP
1.000
2--
NEFL-
-
-
-
3Gain-
NEFMp.E278K
Missense
SNP
0.470
3Gain-
NEGR1-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK2-
-
-
-
1Loss-
NEK6-
-
-
-
3Gain-
NEK7-
-
-
-
1Loss-
NEK8-
-
-
-
3Gain-
NEK9-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELL1-
-
-
-
1Loss-
NELL2-
-
-
-
3Gain-
NEMF-
-
-
-
1Loss-
NEMP1-
-
-
-
3Gain-
NENF-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
6Amp-
NETO2-
-
-
-
1Loss-
NEU3-
-
-
-
3Gain-
NEURL1-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL3-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD1-
-
-
-
1Loss-
NEUROD2-
-
-
-
3Gain-
NEUROD4-
-
-
-
3Gain-
NEUROG3-
-
-
-
1Loss-
NEXN-
-
-
-
3Gain-
NF1-
-
-
-
3Gain-
NFASC-
-
-
-
1Loss-
NFATC1-
-
-
-
6Amp-
NFATC2-
-
-
-
3Gain-
NFATC2IP-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFE2L1-
-
-
-
3Gain-
NFE2L2p.G81_P85del
In_Frame_Del
DEL
0.960
2--
NFIA-
-
-
-
3Gain-
NFIB-
-
-
-
3Gain-
NFIL3-
-
-
-
3Gain-
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
0.507
3Gain-
NGLY1-
-
-
-
1Loss-
NHLH2-
-
-
-
1Loss-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NID2-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NIN-
-
-
-
1Loss-
NINJ1-
-
-
-
3Gain-
NINLp.D915H
p.R469S
Missense
Missense
SNP
SNP
0.180
0.536
3Gain-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
6Amp-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
6Amp-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NKAIN3-
-
-
-
6Amp-
NKAIN4-
-
-
-
3Gain-
NKAPD1-
-
-
-
3Gain-
NKAPLp.K246N
Missense
SNP
1.000
2--
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
6Amp-
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
3Gain-
NKPD1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-1-
-
-
-
16Amp-
NKX2-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
1Loss-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
3Gain-
NKX2-8-
-
-
-
16Amp-
NKX3-1-
-
-
-
3Gain-
NKX6-2-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLE1-
-
-
-
3Gain-
NLGN1-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLGN4Xp.S799T
p.M169I
Missense
Missense
SNP
SNP
1.000
0.978
NDND-
NLK-
-
-
-
3Gain-
NLRC5p.Q1365H
Missense
SNP
0.488
3Gain-
NLRP1-
-
-
-
1Loss-
NLRP10p.E48V
Missense
SNP
1.000
1Loss-
NLRP11p.S525*
Nonsense
SNP
0.991
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP2p.G306V
p.C889F
Missense
Missense
SNP
SNP
1.000
0.995
1Loss-
NLRP3-
-
-
-
5Amp-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8p.P171Lfs*53
Frame_Shift_Del
DEL
0.964
1Loss-
NLRP9-
-
-
-
1Loss-
NLRX1-
-
-
-
3Gain-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NMRK1-
-
-
-
3Gain-
NMS-
-
-
-
3Gain-
NMT1-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NMU-
-
-
-
0Del-
NMUR2-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NNMT-
-
-
-
3Gain-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
0Del-
NOC2L-
-
-
-
3Gain-
NOC3L-
-
-
-
1Loss-
NOC4L-
-
-
-
3Gain-
NOD2-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL4-
-
-
-
6Amp-
NOL4L-
-
-
-
1Loss-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOL9-
-
-
-
3Gain-
NOLC1-
-
-
-
1Loss-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOP9-
-
-
-
1Loss-
NOS1-
-
-
-
3Gain-
NOS2-
-
-
-
3Gain-
NOSIP-
-
-
-
1Loss-
NOTCH2-
-
-
-
1Loss-
NOTCH3-
-
-
-
3Gain-
NOTUM-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
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-
-
-
-
6Amp-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
6Amp-
NPC2-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPEPPS-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPHP4-
-
-
-
3Gain-
NPHS1-
-
-
-
1Loss-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB2-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPLOC4-
-
-
-
3Gain-
NPM2-
-
-
-
3Gain-
NPM3-
-
-
-
1Loss-
NPR2-
-
-
-
3Gain-
NPR3p.R45T
p.V358I
Missense
Missense
SNP
SNP
0.342
0.684
6Amp-
NPS-
-
-
-
1Loss-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
3Gain-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NR1D1-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2C2-
-
-
-
3Gain-
NR2C2AP-
-
-
-
3Gain-
NR2E3-
-
-
-
6Amp-
NR2F6-
-
-
-
3Gain-
NR4A1-
-
-
-
3Gain-
NR4A3-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR5A2-
-
-
-
1Loss-
NR6A1-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRAS-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRDC-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NRG1-
-
-
-
3Gain-
NRG3-
-
-
-
1Loss-
NRGN-
-
-
-
3Gain-
NRIP1-
-
-
-
3Gain-
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRP1-
-
-
-
3Gain-
NRROS-
-
-
-
1Loss-
NRSN2-
-
-
-
3Gain-
NRXN1p.T318Rfs*24
Frame_Shift_Del
DEL
0.968
2--
NRXN2-
-
-
-
3Gain-
NRXN3-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSL1-
-
-
-
1Loss-
NSMAF-
-
-
-
6Amp-
NSMCE1-
-
-
-
1Loss-
NSMCE2-
-
-
-
3Gain-
NSMCE4A-
-
-
-
1Loss-
NSRP1-
-
-
-
3Gain-
NSUN2-
-
-
-
6Amp-
NSUN4-
-
-
-
3Gain-
NSUN5p.E77D
Missense
SNP
1.000
2--
NSUN6-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NT5C3B-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NT5M-
-
-
-
3Gain-
NTAN1-
-
-
-
1Loss-
NTF4-
-
-
-
1Loss-
NTM-
-
-
-
3Gain-
NTMT1-
-
-
-
3Gain-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
3Gain-
NTN5-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK2-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUAK2-
-
-
-
1Loss-
NUBP1-
-
-
-
1Loss-
NUBPL-
-
-
-
11Amp-
NUCB1-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUCKS1-
-
-
-
1Loss-
NUDCD1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT15-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT18-
-
-
-
3Gain-
NUDT19-
-
-
-
1Loss-
NUDT2-
-
-
-
3Gain-
NUDT21-
-
-
-
3Gain-
NUDT22-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUDT5-
-
-
-
3Gain-
NUDT8-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUFIP2-
-
-
-
3Gain-
NUGGC-
-
-
-
3Gain-
NUMA1-
-
-
-
3Gain-
NUMB-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP107-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
6Amp-
NUP160-
-
-
-
1Loss-
NUP188-
-
-
-
3Gain-
NUP210p.X1185_splice
Splice_Site
SNP
0.497
3Gain-
NUP35-
-
-
-
1Loss-
NUP37-
-
-
-
3Gain-
NUP62-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPR1-
-
-
-
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-
NXPH3-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NXT1-
-
-
-
3Gain-
NYNRIN-
-
-
-
1Loss-
OAF-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3p.E993Q
Missense
SNP
0.568
3Gain-
OASL-
-
-
-
3Gain-
OAT-
-
-
-
1Loss-
OAZ2-
-
-
-
3Gain-
OBSCNp.G1142V
Missense
SNP
1.000
3Gain-
OC90-
-
-
-
3Gain-
OCA2-
-
-
-
3Gain-
OCEL1-
-
-
-
3Gain-
OCLM-
-
-
-
1Loss-
OCSTAMP-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF2-
-
-
-
3Gain-
ODF2L-
-
-
-
3Gain-
ODF3p.L99M
Missense
SNP
1.000
2--
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
3Gain-
OGFOD2-
-
-
-
3Gain-
OGFOD3-
-
-
-
3Gain-
OGFR-
-
-
-
3Gain-
OGG1-
-
-
-
3Gain-
OGN-
-
-
-
3Gain-
OIT3-
-
-
-
1Loss-
OLAH-
-
-
-
3Gain-
OLFM2-
-
-
-
6Amp-
OLFML1-
-
-
-
1Loss-
OLFML2A-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLIG1-
-
-
-
3Gain-
OLIG2-
-
-
-
3Gain-
OMA1-
-
-
-
3Gain-
OMD-
-
-
-
3Gain-
OMG-
-
-
-
3Gain-
OMP-
-
-
-
3Gain-
ONECUT1-
-
-
-
3Gain-
ONECUT2-
-
-
-
6Amp-
OOSP1-
-
-
-
3Gain-
OOSP2-
-
-
-
3Gain-
OPA1-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPRK1-
-
-
-
6Amp-
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
0.359
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
2--
OR10P1-
-
-
-
3Gain-
OR10Q1-
-
-
-
3Gain-
OR10S1-
-
-
-
3Gain-
OR10V1-
-
-
-
3Gain-
OR10W1-
-
-
-
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
0.282
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-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
5Amp-
OR2AK2-
-
-
-
5Amp-
OR2AP1-
-
-
-
3Gain-
OR2AT4-
-
-
-
3Gain-
OR2B11-
-
-
-
5Amp-
OR2C3-
-
-
-
5Amp-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
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
0.657
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
1.000
2--
OR2W3-
-
-
-
5Amp-
OR2Z1p.L184I
Missense
SNP
0.998
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
0.462
3Gain-
OR4D1-
-
-
-
3Gain-
OR4D10-
-
-
-
3Gain-
OR4D11-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5-
-
-
-
3Gain-
OR4D6-
-
-
-
3Gain-
OR4D9-
-
-
-
3Gain-
OR4E2-
-
-
-
3Gain-
OR4F15-
-
-
-
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
0.472
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
0.478
3Gain-
OR5W2p.G213R
Missense
SNP
0.525
3Gain-
OR6A2-
-
-
-
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-
OR6M1-
-
-
-
3Gain-
OR6Q1-
-
-
-
3Gain-
OR6S1-
-
-
-
3Gain-
OR6T1-
-
-
-
3Gain-
OR6X1-
-
-
-
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-
OR9G1-
-
-
-
3Gain-
OR9G4-
-
-
-
3Gain-
OR9I1-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
OR9Q1-
-
-
-
3Gain-
OR9Q2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI3-
-
-
-
1Loss-
ORC1-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
ORMDL3-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBP-
-
-
-
3Gain-
OSBPL10-
-
-
-
1Loss-
OSBPL1A-
-
-
-
6Amp-
OSBPL2-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL7-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
3Gain-
OSCAR-
-
-
-
1Loss-
OSCP1-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSGEP-
-
-
-
3Gain-
OSGIN2-
-
-
-
7Amp-
OSMR-
-
-
-
6Amp-
OSR2-
-
-
-
6Amp-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
1Loss-
OTOA-
-
-
-
1Loss-
OTOFp.P930T
Missense
SNP
1.000
2--
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
3Gain-
OTOL1p.G206V
Missense
SNP
0.968
1Loss-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTOR-
-
-
-
3Gain-
OTUB1-
-
-
-
3Gain-
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
3Gain-
OTUD4p.D239Y
Missense
SNP
0.312
2--
OTUD6B-
-
-
-
6Amp-
OTULIN-
-
-
-
6Amp-
OTULINL-
-
-
-
6Amp-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH1-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OVOL1-
-
-
-
3Gain-
OVOL2-
-
-
-
3Gain-
OVOL3-
-
-
-
1Loss-
OXA1L-
-
-
-
3Gain-
OXCT1-
-
-
-
6Amp-
OXCT2-
-
-
-
3Gain-
OXGR1-
-
-
-
1Loss-
OXLD1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
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
0.512
3Gain-
P2RX7-
-
-
-
3Gain-
P2RY11-
-
-
-
6Amp-
P2RY2-
-
-
-
3Gain-
P2RY6-
-
-
-
3Gain-
P3H1-
-
-
-
3Gain-
P3H2-
-
-
-
1Loss-
P3H4-
-
-
-
3Gain-
P4HA1-
-
-
-
1Loss-
P4HA3-
-
-
-
3Gain-
P4HB-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PAAF1-
-
-
-
3Gain-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPC4-
-
-
-
3Gain-
PABPN1-
-
-
-
3Gain-
PABPN1L-
-
-
-
1Loss-
PACS1-
-
-
-
3Gain-
PACSIN3-
-
-
-
1Loss-
PAF1p.S79F
Missense
SNP
1.000
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
3Gain-
PAFAH1B3-
-
-
-
1Loss-
PAG1-
-
-
-
6Amp-
PAGR1-
-
-
-
1Loss-
PAH-
-
-
-
3Gain-
PAICS-
-
-
-
0Del-
PAIP1-
-
-
-
3Gain-
PAK1-
-
-
-
3Gain-
PAK2-
-
-
-
1Loss-
PAK4-
-
-
-
1Loss-
PAK5-
-
-
-
3Gain-
PALB2-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PALM3-
-
-
-
3Gain-
PAM16-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PAN2-
-
-
-
3Gain-
PAN3-
-
-
-
3Gain-
PANK1-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANK3-
-
-
-
1Loss-
PANK4-
-
-
-
3Gain-
PANX1-
-
-
-
3Gain-
PANX3-
-
-
-
3Gain-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPPA-
-
-
-
3Gain-
PAPPA2p.G1451R
Missense
SNP
1.000
2--
PAPSS2-
-
-
-
1Loss-
PAQR5-
-
-
-
3Gain-
PARD3-
-
-
-
3Gain-
PARD6Bp.S103P
Missense
SNP
0.412
3Gain-
PARD6G-
-
-
-
6Amp-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
1Loss-
PARN-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP16-
-
-
-
3Gain-
PARP2-
-
-
-
3Gain-
PARP6-
-
-
-
6Amp-
PARPBP-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PATE1-
-
-
-
3Gain-
PATE2-
-
-
-
3Gain-
PATE3-
-
-
-
3Gain-
PATE4-
-
-
-
3Gain-
PATJ-
-
-
-
3Gain-
PATL1-
-
-
-
3Gain-
PATL2-
-
-
-
3Gain-
PAWR-
-
-
-
3Gain-
PAX1-
-
-
-
3Gain-
PAX2-
-
-
-
1Loss-
PAX3p.Y354N
Missense
SNP
1.000
2--
PAX5-
-
-
-
3Gain-
PAX6p.M151I
Missense
SNP
1.000
1Loss-
PAX7p.P400Q
Missense
SNP
0.988
2--
PAX9-
-
-
-
16Amp-
PAXBP1-
-
-
-
3Gain-
PBK-
-
-
-
3Gain-
PBLD-
-
-
-
1Loss-
PBX3-
-
-
-
3Gain-
PBX4-
-
-
-
3Gain-
PC-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBP2-
-
-
-
3Gain-
PCBP3-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA12p.G42C
Missense
SNP
1.000
2--
PCDHA5p.K813N
Missense
SNP
1.000
2--
PCDHB10p.Q749L
Missense
SNP
1.000
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
1.000
2--
PCED1A-
-
-
-
3Gain-
PCED1B-
-
-
-
3Gain-
PCF11-
-
-
-
3Gain-
PCGF2p.R94P
Missense
SNP
0.439
3Gain-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCLAF-
-
-
-
3Gain-
PCM1-
-
-
-
3Gain-
PCMTD1-
-
-
-
6Amp-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNT-
-
-
-
3Gain-
PCNX1-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
3Gain-
PCNX4-
-
-
-
1Loss-
PCP2-
-
-
-
3Gain-
PCP4-
-
-
-
3Gain-
PCSK2-
-
-
-
3Gain-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCSK7-
-
-
-
3Gain-
PCSK9-
-
-
-
3Gain-
PCTP-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
1Loss-
PCYT2-
-
-
-
3Gain-
PDC-
-
-
-
1Loss-
PDCD10-
-
-
-
1Loss-
PDCD11-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
3Gain-
PDCD2L-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6-
-
-
-
6Amp-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL-
-
-
-
3Gain-
PDCL2-
-
-
-
0Del-
PDCL3-
-
-
-
3Gain-
PDE1A-
-
-
-
1Loss-
PDE1B-
-
-
-
3Gain-
PDE2A-
-
-
-
3Gain-
PDE4A-
-
-
-
6Amp-
PDE4B-
-
-
-
3Gain-
PDE4C-
-
-
-
3Gain-
PDE6A-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6G-
-
-
-
3Gain-
PDE7A-
-
-
-
6Amp-
PDE9A-
-
-
-
3Gain-
PDGFD-
-
-
-
3Gain-
PDGFRAp.Q1043H
Missense
SNP
0.363
3Gain-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
3Gain-
PDHA2p.A338G
Missense
SNP
0.700
2--
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
3Gain-
PDILT-
-
-
-
1Loss-
PDK2-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
3Gain-
PDLIM3-
-
-
-
1Loss-
PDP1-
-
-
-
6Amp-
PDPRp.X76_splice
Splice_Site
SNP
1.000
2--
PDRG1-
-
-
-
1Loss-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDXDC1-
-
-
-
1Loss-
PDXK-
-
-
-
3Gain-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
6Amp-
PDZD3-
-
-
-
3Gain-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PDZK1IP1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PDZRN4p.S977R
Missense
SNP
0.531
3Gain-
PEBP1-
-
-
-
3Gain-
PEBP4-
-
-
-
3Gain-
PECAM1-
-
-
-
3Gain-
PEG3p.D1426Y
Missense
SNP
0.428
1Loss-
PELI2-
-
-
-
1Loss-
PELI3-
-
-
-
3Gain-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
3Gain-
PENK-
-
-
-
6Amp-
PEPD-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PERM1-
-
-
-
3Gain-
PET100-
-
-
-
3Gain-
PET117-
-
-
-
3Gain-
PEX10-
-
-
-
3Gain-
PEX11G-
-
-
-
3Gain-
PEX12-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PEX2-
-
-
-
6Amp-
PEX26-
-
-
-
3Gain-
PEX5L-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKFB2-
-
-
-
1Loss-
PFKFB3-
-
-
-
3Gain-
PFKL-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PFN1-
-
-
-
1Loss-
PGA3-
-
-
-
3Gain-
PGA4-
-
-
-
3Gain-
PGA5-
-
-
-
3Gain-
PGAM1-
-
-
-
1Loss-
PGAM5-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
3Gain-
PGBD2-
-
-
-
5Amp-
PGBD5-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGLS-
-
-
-
3Gain-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGM2L1-
-
-
-
3Gain-
PGM5-
-
-
-
3Gain-
PGPEP1-
-
-
-
3Gain-
PGPEP1L-
-
-
-
1Loss-
PGR-
-
-
-
3Gain-
PGS1-
-
-
-
3Gain-
PHACTR3-
-
-
-
3Gain-
PHB-
-
-
-
3Gain-
PHC3-
-
-
-
1Loss-
PHETA1-
-
-
-
3Gain-
PHF12-
-
-
-
3Gain-
PHF13-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21A-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHGDH-
-
-
-
1Loss-
PHIPp.P355L
Missense
SNP
1.000
2--
PHKB-
-
-
-
1Loss-
PHKG2-
-
-
-
1Loss-
PHLDA1-
-
-
-
3Gain-
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
1Loss-
PHLDB1-
-
-
-
3Gain-
PHLDB3-
-
-
-
1Loss-
PHLPP1-
-
-
-
6Amp-
PHOSPHO1-
-
-
-
3Gain-
PHOX2A-
-
-
-
3Gain-
PHOX2B-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHYH-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PHYHIP-
-
-
-
3Gain-
PHYHIPL-
-
-
-
1Loss-
PI15-
-
-
-
6Amp-
PI3-
-
-
-
3Gain-
PI4K2A-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PIAS1-
-
-
-
3Gain-
PIAS2-
-
-
-
6Amp-
PIBF1-
-
-
-
1Loss-
PICALM-
-
-
-
3Gain-
PIEZO1-
-
-
-
1Loss-
PIEZO2p.V724L
Missense
SNP
1.000
1Loss-
PIF1p.P247L
Missense
SNP
0.511
3Gain-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
3Gain-
PIGH-
-
-
-
1Loss-
PIGK-
-
-
-
3Gain-
PIGL-
-
-
-
3Gain-
PIGN-
-
-
-
6Amp-
PIGO-
-
-
-
3Gain-
PIGP-
-
-
-
3Gain-
PIGR-
-
-
-
1Loss-
PIGS-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGW-
-
-
-
3Gain-
PIGX-
-
-
-
1Loss-
PIGZ-
-
-
-
1Loss-
PIH1D1-
-
-
-
1Loss-
PIH1D2-
-
-
-
3Gain-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C2B-
-
-
-
1Loss-
PIK3C3-
-
-
-
6Amp-
PIK3CA-
-
-
-
1Loss-
PIK3R2-
-
-
-
3Gain-
PIK3R3-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
6Amp-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP4K2B-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PIP4P1-
-
-
-
3Gain-
PIP4P2-
-
-
-
6Amp-
PIP5K1B-
-
-
-
3Gain-
PIP5KL1-
-
-
-
3Gain-
PIPOX-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM1-
-
-
-
3Gain-
PITPNM2p.L237M
Missense
SNP
0.465
3Gain-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
3Gain-
PITX2p.S210R
Missense
SNP
0.574
2--
PITX3-
-
-
-
1Loss-
PIWIL1-
-
-
-
3Gain-
PIWIL2-
-
-
-
3Gain-
PIWIL4-
-
-
-
3Gain-
PKD1L1-
-
-
-
1Loss-
PKD1L2p.S142*
Nonsense
SNP
1.000
2--
PKD2L1-
-
-
-
1Loss-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
6Amp-
PKIG-
-
-
-
3Gain-
PKM-
-
-
-
6Amp-
PKN1-
-
-
-
3Gain-
PKN2-
-
-
-
3Gain-
PKN3-
-
-
-
3Gain-
PKNOX1-
-
-
-
3Gain-
PKNOX2-
-
-
-
3Gain-
PKP1-
-
-
-
1Loss-
PKP2p.P623Rfs*17
Frame_Shift_Del
DEL
0.976
2--
PLA2G10-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G16-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G4A-
-
-
-
1Loss-
PLA2G4C-
-
-
-
1Loss-
PLA2R1p.Q131L
Missense
SNP
1.000
2--
PLAA-
-
-
-
3Gain-
PLAC9-
-
-
-
1Loss-
PLAG1-
-
-
-
6Amp-
PLAGL2-
-
-
-
1Loss-
PLAT-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLBD2-
-
-
-
3Gain-
PLCB1-
-
-
-
3Gain-
PLCB3-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCD3-
-
-
-
3Gain-
PLCE1-
-
-
-
1Loss-
PLCG1-
-
-
-
3Gain-
PLCH2-
-
-
-
3Gain-
PLCL2-
-
-
-
1Loss-
PLCXD3-
-
-
-
6Amp-
PLD1-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD3-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
3Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA3p.S32T
Missense
SNP
1.000
2--
PLEKHA4-
-
-
-
1Loss-
PLEKHA6-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHB1-
-
-
-
3Gain-
PLEKHD1-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
6Amp-
PLEKHG2-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG5-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLEKHH1-
-
-
-
1Loss-
PLEKHH2p.S639*
Nonsense
SNP
1.000
2--
PLEKHH3-
-
-
-
3Gain-
PLEKHM1-
-
-
-
3Gain-
PLEKHN1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
3Gain-
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLK1-
-
-
-
1Loss-
PLK3-
-
-
-
3Gain-
PLLP-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP3-
-
-
-
3Gain-
PLPP4-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLPPR1-
-
-
-
3Gain-
PLPPR2-
-
-
-
3Gain-
PLPPR4p.I60M
Missense
SNP
0.294
2--
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLVAP-
-
-
-
3Gain-
PLXDC1-
-
-
-
3Gain-
PLXDC2-
-
-
-
3Gain-
PLXNA2-
-
-
-
1Loss-
PLXNC1-
-
-
-
3Gain-
PLXND1p.R975C
Missense
SNP
0.332
2--
PM20D1-
-
-
-
1Loss-
PMAIP1-
-
-
-
6Amp-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMEPA1-
-
-
-
3Gain-
PMM2-
-
-
-
1Loss-
PMP2-
-
-
-
6Amp-
PMP22-
-
-
-
3Gain-
PNKP-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
3Gain-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNMT-
-
-
-
3Gain-
PNN-
-
-
-
10Amp-
PNOC-
-
-
-
3Gain-
PNP-
-
-
-
3Gain-
PNPLA6-
-
-
-
3Gain-
PNPO-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODN-
-
-
-
3Gain-
PODNL1-
-
-
-
3Gain-
POFUT1-
-
-
-
1Loss-
POFUT2-
-
-
-
3Gain-
POLA2-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD1-
-
-
-
1Loss-
POLD3-
-
-
-
3Gain-
POLD4-
-
-
-
3Gain-
POLDIP2-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLE2-
-
-
-
1Loss-
POLE3-
-
-
-
3Gain-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
6Amp-
POLL-
-
-
-
1Loss-
POLR1Bp.I1145M
Missense
SNP
0.500
2--
POLR1D-
-
-
-
3Gain-
POLR1E-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
0Del-
POLR2C-
-
-
-
3Gain-
POLR2G-
-
-
-
3Gain-
POLR2H-
-
-
-
1Loss-
POLR2I-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR2M-
-
-
-
3Gain-
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3E-
-
-
-
1Loss-
POLR3F-
-
-
-
3Gain-
POMGNT1-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POMT1p.V256D
Missense
SNP
0.606
2--
POMT2-
-
-
-
1Loss-
POP1-
-
-
-
6Amp-
POP4-
-
-
-
1Loss-
POP5-
-
-
-
3Gain-
POSTN-
-
-
-
3Gain-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POTED-
-
-
-
3Gain-
POTEG-
-
-
-
3Gain-
POTEH-
-
-
-
3Gain-
POTEM-
-
-
-
3Gain-
POU1F1-
-
-
-
1Loss-
POU2AF1-
-
-
-
3Gain-
POU2F2-
-
-
-
1Loss-
POU2F3-
-
-
-
3Gain-
POU3F1-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
POU4F2p.F340S
Missense
SNP
0.639
2--
POU5F1B-
-
-
-
3Gain-
POU6F1-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPAN-
-
-
-
6Amp-
PPAN-P2RY11-
-
-
-
6Amp-
PPARG-
-
-
-
5Amp-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
0Del-
PPCS-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
6Amp-
PPFIA1-
-
-
-
3Gain-
PPFIA2p.D362Y
Missense
SNP
0.460
3Gain-
PPFIA3-
-
-
-
1Loss-
PPFIA4-
-
-
-
1Loss-
PPFIBP1-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPHLN1-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIE-
-
-
-
3Gain-
PPIF-
-
-
-
1Loss-
PPIH-
-
-
-
3Gain-
PPIL2-
-
-
-
3Gain-
PPIP5K1-
-
-
-
3Gain-
PPL-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1F-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPM1J-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPME1-
-
-
-
3Gain-
PPP1CA-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R12B-
-
-
-
1Loss-
PPP1R12C-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R14B-
-
-
-
3Gain-
PPP1R15A-
-
-
-
1Loss-
PPP1R15B-
-
-
-
1Loss-
PPP1R16B-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R1B-
-
-
-
3Gain-
PPP1R1C-
-
-
-
1Loss-
PPP1R2-
-
-
-
1Loss-
PPP1R27-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R32-
-
-
-
3Gain-
PPP1R36-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3B-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
3Gain-
PPP1R42-
-
-
-
6Amp-
PPP1R9B-
-
-
-
3Gain-
PPP2CB-
-
-
-
3Gain-
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
3Gain-
PPP2R2A-
-
-
-
3Gain-
PPP2R2D-
-
-
-
1Loss-
PPP2R3C-
-
-
-
6Amp-
PPP2R5A-
-
-
-
1Loss-
PPP2R5B-
-
-
-
3Gain-
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-
PRAC1-
-
-
-
3Gain-
PRAC2-
-
-
-
3Gain-
PRAG1-
-
-
-
3Gain-
PRAM1-
-
-
-
5Amp-
PRAME-
-
-
-
3Gain-
PRAMEF2p.Q292H
Missense
SNP
0.993
2--
PRAP1-
-
-
-
1Loss-
PRCD-
-
-
-
3Gain-
PRCP-
-
-
-
3Gain-
PRDM10-
-
-
-
3Gain-
PRDM11-
-
-
-
1Loss-
PRDM14-
-
-
-
6Amp-
PRDM15-
-
-
-
3Gain-
PRDM16-
-
-
-
3Gain-
PRDM4-
-
-
-
3Gain-
PRDM7-
-
-
-
1Loss-
PRDM9-
-
-
-
6Amp-
PRDX1-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
3Gain-
PRELID3A-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PRELP-
-
-
-
1Loss-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
6Amp-
PRF1-
-
-
-
1Loss-
PRG2-
-
-
-
3Gain-
PRG3-
-
-
-
3Gain-
PRG4-
-
-
-
1Loss-
PRICKLE1-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRIM1-
-
-
-
3Gain-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
6Amp-
PRKAA2-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKACA-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKAR1A-
-
-
-
3Gain-
PRKCA-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCI-
-
-
-
1Loss-
PRKCQ-
-
-
-
3Gain-
PRKCSH-
-
-
-
3Gain-
PRKCZ-
-
-
-
3Gain-
PRKD1-
-
-
-
11Amp-
PRKD2-
-
-
-
1Loss-
PRKDC-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
6Amp-
PRM1-
-
-
-
1Loss-
PRM2-
-
-
-
1Loss-
PRM3-
-
-
-
1Loss-
PRMT1-
-
-
-
1Loss-
PRMT2-
-
-
-
3Gain-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
3Gain-
PRMT6-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
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-
PRPF31-
-
-
-
1Loss-
PRPF38A-
-
-
-
3Gain-
PRPF38B-
-
-
-
1Loss-
PRPF39-
-
-
-
8Amp-
PRPF4-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPF4Bp.D260Y
Missense
SNP
1.000
2--
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
3Gain-
PRPSAP1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
3Gain-
PRR11-
-
-
-
3Gain-
PRR12-
-
-
-
1Loss-
PRR13-
-
-
-
3Gain-
PRR14-
-
-
-
1Loss-
PRR15L-
-
-
-
3Gain-
PRR19-
-
-
-
1Loss-
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR26-
-
-
-
3Gain-
PRR29-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
3Gain-
PRR5L-
-
-
-
1Loss-
PRRG2-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRRT3-
-
-
-
3Gain-
PRRX2-
-
-
-
3Gain-
PRSS23-
-
-
-
3Gain-
PRSS3-
-
-
-
3Gain-
PRSS36-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS54-
-
-
-
3Gain-
PRSS55-
-
-
-
3Gain-
PRSS8-
-
-
-
1Loss-
PRTFDC1-
-
-
-
3Gain-
PRTG-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRX-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2B-
-
-
-
3Gain-
PRXL2C-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSAT1-
-
-
-
3Gain-
PSD-
-
-
-
1Loss-
PSD3-
-
-
-
3Gain-
PSEN1-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSENEN-
-
-
-
1Loss-
PSG1p.T139N
Missense
SNP
0.987
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
3Gain-
PSKH2-
-
-
-
6Amp-
PSMA3-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA6-
-
-
-
6Amp-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
6Amp-
PSMB11-
-
-
-
3Gain-
PSMB3-
-
-
-
3Gain-
PSMB5-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMC1-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC3IP-
-
-
-
3Gain-
PSMC4-
-
-
-
1Loss-
PSMC5-
-
-
-
3Gain-
PSMC6-
-
-
-
1Loss-
PSMD11-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD2-
-
-
-
1Loss-
PSMD3-
-
-
-
3Gain-
PSMD5-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSMD9-
-
-
-
3Gain-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSME3-
-
-
-
3Gain-
PSMF1-
-
-
-
3Gain-
PSMG1-
-
-
-
3Gain-
PSMG2-
-
-
-
1Loss-
PSPN-
-
-
-
3Gain-
PSRC1-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
6Amp-
PTAR1-
-
-
-
3Gain-
PTBP1p.Q391H
Missense
SNP
1.000
2--
PTBP3-
-
-
-
3Gain-
PTCH1-
-
-
-
3Gain-
PTCH2-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTDSS1p.W174L
Missense
SNP
1.000
6Amp-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGDR-
-
-
-
1Loss-
PTGDR2-
-
-
-
3Gain-
PTGER1-
-
-
-
3Gain-
PTGER2-
-
-
-
1Loss-
PTGER3-
-
-
-
3Gain-
PTGER4-
-
-
-
6Amp-
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-
PTH2-
-
-
-
1Loss-
PTHLH-
-
-
-
3Gain-
PTK2B-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTOV1-
-
-
-
1Loss-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN14-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN7-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRC-
-
-
-
1Loss-
PTPRCAP-
-
-
-
3Gain-
PTPRDp.T1455K
Missense
SNP
0.548
3Gain-
PTPRE-
-
-
-
1Loss-
PTPRF-
-
-
-
3Gain-
PTPRGp.W326*
Nonsense
SNP
1.000
1Loss-
PTPRH-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRN2p.W96C
Missense
SNP
1.000
2--
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRTp.N133Mfs*11
Frame_Shift_Del
DEL
0.403
3Gain-
PTPRZ1p.S490T
Missense
SNP
1.000
2--
PTRH1-
-
-
-
3Gain-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
3Gain-
PTTG2-
-
-
-
1Loss-
PUM3-
-
-
-
3Gain-
PURG-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS3-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PUSL1-
-
-
-
3Gain-
PVALEF-
-
-
-
3Gain-
PVR-
-
-
-
1Loss-
PWP1-
-
-
-
3Gain-
PWP2-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDNL-
-
-
-
6Amp-
PXK-
-
-
-
1Loss-
PXMP2-
-
-
-
3Gain-
PXMP4-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYCARD-
-
-
-
1Loss-
PYCR1-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYDC1-
-
-
-
1Loss-
PYDC2-
-
-
-
1Loss-
PYGB-
-
-
-
3Gain-
PYGL-
-
-
-
1Loss-
PYGM-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PYROXD2-
-
-
-
1Loss-
PYY-
-
-
-
3Gain-
QPCTL-
-
-
-
1Loss-
QPRT-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSER1-
-
-
-
1Loss-
QTRT1-
-
-
-
6Amp-
R3HCC1-
-
-
-
3Gain-
R3HCC1L-
-
-
-
1Loss-
R3HDM2-
-
-
-
3Gain-
R3HDML-
-
-
-
3Gain-
RAB11A-
-
-
-
3Gain-
RAB11B-
-
-
-
5Amp-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
3Gain-
RAB12-
-
-
-
1Loss-
RAB14-
-
-
-
3Gain-
RAB15-
-
-
-
1Loss-
RAB18-
-
-
-
3Gain-
RAB1B-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB21-
-
-
-
3Gain-
RAB22A-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB27B-
-
-
-
6Amp-
RAB29-
-
-
-
1Loss-
RAB2A-
-
-
-
6Amp-
RAB2B-
-
-
-
3Gain-
RAB30-
-
-
-
3Gain-
RAB31-
-
-
-
1Loss-
RAB34-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB37-
-
-
-
3Gain-
RAB38-
-
-
-
3Gain-
RAB39A-
-
-
-
3Gain-
RAB3A-
-
-
-
3Gain-
RAB3B-
-
-
-
3Gain-
RAB3D-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
1Loss-
RAB3IL1-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB40B-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RAB5B-
-
-
-
3Gain-
RAB5C-
-
-
-
3Gain-
RAB5IF-
-
-
-
3Gain-
RAB6A-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABAC1-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABGGTB-
-
-
-
3Gain-
RABIF-
-
-
-
1Loss-
RAC3-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RAD1-
-
-
-
6Amp-
RAD18-
-
-
-
3Gain-
RAD21-
-
-
-
3Gain-
RAD21L1-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RAD51B-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD51D-
-
-
-
3Gain-
RAD51L3-RFFL-
-
-
-
3Gain-
RAD54B-
-
-
-
6Amp-
RAD54L-
-
-
-
3Gain-
RAD9A-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAF1-
-
-
-
3Gain-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1-
-
-
-
3Gain-
RAI14-
-
-
-
6Amp-
RALBP1-
-
-
-
1Loss-
RALGAPA1-
-
-
-
6Amp-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
6Amp-
RAMP2-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP17-
-
-
-
1Loss-
RANBP3L-
-
-
-
6Amp-
RANBP6-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
3Gain-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPGEF3-
-
-
-
3Gain-
RAPGEFL1-
-
-
-
3Gain-
RAPSN-
-
-
-
1Loss-
RARA-
-
-
-
3Gain-
RARB-
-
-
-
1Loss-
RARG-
-
-
-
3Gain-
RARRES3-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASAL1-
-
-
-
3Gain-
RASAL3-
-
-
-
3Gain-
RASD1-
-
-
-
3Gain-
RASEF-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGRP2-
-
-
-
3Gain-
RASGRP4-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RASL10B-
-
-
-
3Gain-
RASL11A-
-
-
-
3Gain-
RASL11B-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
1Loss-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RAVER1-
-
-
-
6Amp-
RAVER2-
-
-
-
3Gain-
RAX-
-
-
-
6Amp-
RB1-
-
-
-
3GainVPS13B--RB1
RB1CC1-
-
-
-
6Amp-
RBBP5-
-
-
-
1Loss-
RBBP6p.T1423S
Missense
SNP
0.996
1Loss-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
6Amp-
RBFOX1-
-
-
-
1Loss-
RBFOX3-
-
-
-
3Gain-
RBL1-
-
-
-
3Gain-
RBL2-
-
-
-
3Gain-
RBM11p.S88N
Missense
SNP
0.500
3Gain-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
6Amp-
RBM14-
-
-
-
3Gain-
RBM14-RBM4-
-
-
-
3Gain-
RBM15-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM4-
-
-
-
3Gain-
RBM42-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM4B-
-
-
-
3Gain-
RBM7-
-
-
-
3Gain-
RBMS2-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
3Gain-
RBPMS2-
-
-
-
3Gain-
RBSN-
-
-
-
3Gain-
RC3H2-
-
-
-
3Gain-
RCAN1-
-
-
-
3Gain-
RCE1-
-
-
-
3Gain-
RCL1-
-
-
-
3Gain-
RCN1-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCOR2-
-
-
-
3Gain-
RCOR3-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
1Loss-
RDH10-
-
-
-
6Amp-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH13-
-
-
-
1Loss-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RDH8-
-
-
-
6Amp-
RDM1-
-
-
-
3Gain-
RDX-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RECQL5-
-
-
-
3Gain-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
3Gain-
REG4-
-
-
-
1Loss-
RELA-
-
-
-
3Gain-
RELB-
-
-
-
1Loss-
RELCH-
-
-
-
6Amp-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELT-
-
-
-
3Gain-
REM1-
-
-
-
1Loss-
REM2-
-
-
-
3Gain-
REN-
-
-
-
1Loss-
REP15-
-
-
-
3Gain-
RER1-
-
-
-
3Gain-
REST-
-
-
-
0Del-
RET-
-
-
-
1Loss-
RETN-
-
-
-
3Gain-
RETREG1-
-
-
-
6Amp-
RETREG3-
-
-
-
3Gain-
REV1-
-
-
-
3Gain-
REX1BD-
-
-
-
3Gain-
REXO2-
-
-
-
3Gain-
REXO5-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFC3-
-
-
-
3Gain-
RFC4-
-
-
-
1Loss-
RFC5-
-
-
-
3Gain-
RFFL-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
3Gain-
RFPL4A-
-
-
-
1Loss-
RFPL4AL1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX1-
-
-
-
3Gain-
RFX3-
-
-
-
3Gain-
RFX4-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RFX8-
-
-
-
3Gain-
RFXANK-
-
-
-
3Gain-
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGL3-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGP1-
-
-
-
3Gain-
RGR-
-
-
-
1Loss-
RGS1-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS13-
-
-
-
1Loss-
RGS18-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
1Loss-
RGS20-
-
-
-
6Amp-
RGS21-
-
-
-
1Loss-
RGS22p.L440I
Missense
SNP
0.450
3Gain-
RGS3-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS7-
-
-
-
3Gain-
RGS9-
-
-
-
3Gain-
RGS9BP-
-
-
-
1Loss-
RHBDF2-
-
-
-
3Gain-
RHBDL2-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHEX-
-
-
-
1Loss-
RHOBTB1p.C628W
Missense
SNP
1.000
1Loss-
RHOBTB2-
-
-
-
3Gain-
RHOC-
-
-
-
1Loss-
RHOD-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOT1-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RHPN2-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8B-
-
-
-
3Gain-
RICTOR-
-
-
-
6Amp-
RIDA-
-
-
-
6Amp-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLA-
-
-
-
3Gain-
RIMS2p.G580R
Missense
SNP
1.000
3Gain-
RIMS3-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN1-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RIN3-
-
-
-
1Loss-
RINL-
-
-
-
1Loss-
RIOK3-
-
-
-
6Amp-
RIOX1-
-
-
-
1Loss-
RIPK2-
-
-
-
7Amp-
RIPK3-
-
-
-
1Loss-
RIPK4-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIPPLY3-
-
-
-
3Gain-
RIT2-
-
-
-
6Amp-
RITA1-
-
-
-
3Gain-
RLF-
-
-
-
3Gain-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RLN3-
-
-
-
3Gain-
RMC1-
-
-
-
6Amp-
RMDN1-
-
-
-
6Amp-
RMI1-
-
-
-
3Gain-
RMI2-
-
-
-
1Loss-
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11p.G88*
Nonsense
SNP
0.553
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEH2C-
-
-
-
3Gain-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND1-
-
-
-
3Gain-
RND2-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF11-
-
-
-
3Gain-
RNF111-
-
-
-
3Gain-
RNF112-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF121-
-
-
-
3Gain-
RNF122-
-
-
-
3Gain-
RNF125-
-
-
-
6Amp-
RNF135-
-
-
-
3Gain-
RNF138-
-
-
-
6Amp-
RNF139-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF149-
-
-
-
3Gain-
RNF152-
-
-
-
6Amp-
RNF157-
-
-
-
3Gain-
RNF165-
-
-
-
6Amp-
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
1Loss-
RNF169-
-
-
-
3Gain-
RNF170-
-
-
-
1Loss-
RNF183-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF20-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF212B-
-
-
-
3Gain-
RNF213-
-
-
-
3Gain-
RNF214-
-
-
-
3Gain-
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF225-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF26-
-
-
-
3Gain-
RNF31-
-
-
-
1Loss-
RNF34-
-
-
-
3Gain-
RNF38-
-
-
-
3Gain-
RNF40-
-
-
-
1Loss-
RNF41-
-
-
-
3Gain-
RNF43-
-
-
-
3Gain-
RNF6-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNLS-
-
-
-
1Loss-
RNMT-
-
-
-
3Gain-
RNPEP-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO3-
-
-
-
3Gain-
ROBO4-
-
-
-
3Gain-
ROCK1-
-
-
-
3Gain-
ROGDI-
-
-
-
1Loss-
ROM1-
-
-
-
3Gain-
ROMO1-
-
-
-
3Gain-
ROPN1L-
-
-
-
6Amp-
ROR1-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
RORCp.E269Q
Missense
SNP
0.638
2--
RP1-
-
-
-
6Amp-
RP11-766F14.2p.P1218A
Missense
SNP
0.628
NDND-
RP1L1-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP3-
-
-
-
3Gain-
RPE65-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
3Gain-
RPGRIP1-
-
-
-
3Gain-
RPGRIP1L-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPH3AL-
-
-
-
1Loss-
RPL10L-
-
-
-
5Amp-
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-
-
-
-
1Loss-
RPL23-
-
-
-
3Gain-
RPL23A-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL27-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL30-
-
-
-
6Amp-
RPL31-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL35-
-
-
-
3Gain-
RPL35A-
-
-
-
1Loss-
RPL37-
-
-
-
6Amp-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
1Loss-
RPL4-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL7-
-
-
-
6Amp-
RPL9-
-
-
-
1Loss-
RPLP0-
-
-
-
3Gain-
RPLP1-
-
-
-
3Gain-
RPN2-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
6Amp-
RPRD1B-
-
-
-
3Gain-
RPRML-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15A-
-
-
-
1Loss-
RPS16-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS20-
-
-
-
6Amp-
RPS21-
-
-
-
3Gain-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS28-
-
-
-
5Amp-
RPS29-
-
-
-
1Loss-
RPS3-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6-
-
-
-
3Gain-
RPS6KA4-
-
-
-
3Gain-
RPS6KA5-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPS6KB2-
-
-
-
3Gain-
RPS6KC1-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPS8-
-
-
-
3Gain-
RPS9-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTOR-
-
-
-
3Gain-
RPUSD3-
-
-
-
3Gain-
RPUSD4-
-
-
-
3Gain-
RRAGA-
-
-
-
3Gain-
RRAGC-
-
-
-
3Gain-
RRAS-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RRM1-
-
-
-
1Loss-
RRM2B-
-
-
-
3Gain-
RRN3-
-
-
-
1Loss-
RRP1-
-
-
-
3Gain-
RRP12-
-
-
-
1Loss-
RRP15-
-
-
-
1Loss-
RRP1B-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RRS1-
-
-
-
6Amp-
RSAD1-
-
-
-
3Gain-
RSBN1-
-
-
-
1Loss-
RSF1-
-
-
-
3Gain-
RSL1D1-
-
-
-
1Loss-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
3Gain-
RSPH6A-
-
-
-
1Loss-
RSPO1-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSPRY1-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RSU1-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTKN2-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
3Gain-
RTN1-
-
-
-
1Loss-
RTN2-
-
-
-
1Loss-
RTN3-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2-
-
-
-
3Gain-
RTP1-
-
-
-
1Loss-
RTP2-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
6Amp-
RUBCN-
-
-
-
1Loss-
RUBCNL-
-
-
-
3Gain-
RUFY2-
-
-
-
1Loss-
RUNDC1-
-
-
-
3Gain-
RUNDC3A-
-
-
-
3Gain-
RUNX1-
-
-
-
3Gain-
RUNX1T1-
-
-
-
6Amp-
RUSC2-
-
-
-
3Gain-
RUVBL2-
-
-
-
1Loss-
RWDD2B-
-
-
-
3Gain-
RWDD4-
-
-
-
1Loss-
RXFP2-
-
-
-
3Gain-
RXFP3-
-
-
-
6Amp-
RXYLT1-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYR1-
-
-
-
1Loss-
RYR2-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S1PR2-
-
-
-
6Amp-
S1PR3-
-
-
-
3Gain-
S1PR5-
-
-
-
6Amp-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAC3D1-
-
-
-
3Gain-
SACM1L-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SALL1p.A438G
Missense
SNP
1.000
1Loss-
SALL2-
-
-
-
3Gain-
SALL3-
-
-
-
6Amp-
SALL4-
-
-
-
3Gain-
SAMD1-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
3Gain-
SAMD12-
-
-
-
3Gain-
SAMD13-
-
-
-
3Gain-
SAMD14-
-
-
-
3Gain-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD4B-
-
-
-
1Loss-
SAMD7-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMD9p.D192E
Missense
SNP
1.000
2--
SAMHD1-
-
-
-
3Gain-
SAMSN1-
-
-
-
3Gain-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SARAF-
-
-
-
3Gain-
SARM1-
-
-
-
3Gain-
SARNP-
-
-
-
3Gain-
SARS-
-
-
-
1Loss-
SARS2-
-
-
-
1Loss-
SART1-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO1-
-
-
-
3Gain-
SBK1-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3p.T237Lfs*23
Frame_Shift_Del
DEL
0.979
1Loss-
SBNO1-
-
-
-
3Gain-
SBSN-
-
-
-
1Loss-
SBSPON-
-
-
-
6Amp-
SC5D-
-
-
-
3Gain-
SCAF1-
-
-
-
1Loss-
SCAF11-
-
-
-
3Gain-
SCAF4-
-
-
-
3Gain-
SCAI-
-
-
-
3Gain-
SCAND1-
-
-
-
3Gain-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCD-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD1-
-
-
-
11Amp-
SCFD2-
-
-
-
3Gain-
SCG3-
-
-
-
3Gain-
SCGB1A1-
-
-
-
3Gain-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1p.C24*
Nonsense
SNP
0.460
3Gain-
SCGB1D2-
-
-
-
3Gain-
SCGB1D4-
-
-
-
3Gain-
SCGB2A1-
-
-
-
3Gain-
SCGB2A2-
-
-
-
3Gain-
SCGB2B2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCMH1-
-
-
-
3Gain-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1B-
-
-
-
1Loss-
SCN2B-
-
-
-
3Gain-
SCN3B-
-
-
-
3Gain-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
3Gain-
SCN5A-
-
-
-
1Loss-
SCN8A-
-
-
-
3Gain-
SCNN1B-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCNN1G-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCP2-
-
-
-
3Gain-
SCP2D1-
-
-
-
3Gain-
SCPEP1-
-
-
-
3Gain-
SCRN2-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL1-
-
-
-
3Gain-
SCYL2-
-
-
-
3Gain-
SDC2-
-
-
-
6Amp-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
6Amp-
SDCBP2-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDF4-
-
-
-
3Gain-
SDHAF1-
-
-
-
1Loss-
SDHAF2-
-
-
-
3Gain-
SDHD-
-
-
-
3Gain-
SDK2-
-
-
-
3Gain-
SDR16C5-
-
-
-
6Amp-
SDR39U1-
-
-
-
1Loss-
SDR42E2p.L113M
Missense
SNP
1.000
1Loss-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEBOX-
-
-
-
3Gain-
SEC11C-
-
-
-
6Amp-
SEC13-
-
-
-
3Gain-
SEC14L1-
-
-
-
3Gain-
SEC14L5-
-
-
-
1Loss-
SEC22B-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23A-
-
-
-
10Amp-
SEC23B-
-
-
-
3Gain-
SEC23IP-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEC61B-
-
-
-
3Gain-
SEC62-
-
-
-
1Loss-
SECISBP2-
-
-
-
3Gain-
SECISBP2L-
-
-
-
3Gain-
SECTM1-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SELEp.G601R
Missense
SNP
0.357
2--
SELENOF-
-
-
-
3Gain-
SELENOH-
-
-
-
3Gain-
SELENOP-
-
-
-
6Amp-
SELENOS-
-
-
-
1Loss-
SELENOV-
-
-
-
1Loss-
SELENOW-
-
-
-
1Loss-
SELPLG-
-
-
-
3Gain-
SEMA4C-
-
-
-
3Gain-
SEMA4D-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
6Amp-
SEMA6D-
-
-
-
3Gain-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP1-
-
-
-
3Gain-
SENP2-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
1Loss-
SENP8-
-
-
-
6Amp-
SEPHS1-
-
-
-
3Gain-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT9-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERF2-
-
-
-
3Gain-
SERGEF-
-
-
-
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
0.338
6Amp-
SERPINB4-
-
-
-
6Amp-
SERPINB5-
-
-
-
6Amp-
SERPINB7-
-
-
-
6Amp-
SERPINB8-
-
-
-
6Amp-
SERPIND1-
-
-
-
3Gain-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPING1-
-
-
-
3Gain-
SERPINH1-
-
-
-
3Gain-
SERPINI1-
-
-
-
1Loss-
SERPINI2-
-
-
-
1Loss-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SERTAD4-
-
-
-
1Loss-
SERTM1-
-
-
-
3Gain-
SESN3-
-
-
-
3Gain-
SESTD1-
-
-
-
1Loss-
SET-
-
-
-
3Gain-
SETBP1-
-
-
-
6Amp-
SETD1A-
-
-
-
1Loss-
SETD1B-
-
-
-
3Gain-
SETD2p.S344I
Missense
SNP
1.000
2--
SETD3-
-
-
-
1Loss-
SETD4-
-
-
-
3Gain-
SETD5-
-
-
-
3Gain-
SETD6-
-
-
-
3Gain-
SETMAR-
-
-
-
3Gain-
SEZ6-
-
-
-
3Gain-
SEZ6L2-
-
-
-
1Loss-
SF1-
-
-
-
3Gain-
SF3A3-
-
-
-
3Gain-
SF3B2-
-
-
-
3Gain-
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFSWAP-
-
-
-
3Gain-
SFTA3-
-
-
-
16Amp-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPC-
-
-
-
3Gain-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCA-
-
-
-
3Gain-
SGCB-
-
-
-
3Gain-
SGCD-
-
-
-
1Loss-
SGCZ-
-
-
-
3Gain-
SGF29-
-
-
-
1Loss-
SGIP1-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
6Amp-
SGK494-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGSH-
-
-
-
3Gain-
SGSM2-
-
-
-
1Loss-
SH2B1-
-
-
-
1Loss-
SH2B3-
-
-
-
3Gain-
SH2D3A-
-
-
-
3Gain-
SH2D3C-
-
-
-
3Gain-
SH2D4A-
-
-
-
3Gain-
SH2D4B-
-
-
-
1Loss-
SH3BGR-
-
-
-
3Gain-
SH3BP5-
-
-
-
3Gain-
SH3BP5L-
-
-
-
5Amp-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
3Gain-
SH3GL2-
-
-
-
3Gain-
SH3GLB1-
-
-
-
3Gain-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2Bp.R433*
Nonsense
SNP
1.000
2--
SH3TC2-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHANK2-
-
-
-
3Gain-
SHB-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC3-
-
-
-
3Gain-
SHC4-
-
-
-
3Gain-
SHCBP1-
-
-
-
1Loss-
SHF-
-
-
-
3Gain-
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-
-
-
-
1Loss-
SIAE-
-
-
-
3Gain-
SIAH1-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
3Gain-
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-
SIN3B-
-
-
-
3Gain-
SIPA1-
-
-
-
3Gain-
SIPA1L1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3-
-
-
-
1Loss-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT1-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT4-
-
-
-
3Gain-
SIRT7-
-
-
-
3Gain-
SIT1-
-
-
-
3Gain-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
6Amp-
SKA2-
-
-
-
3Gain-
SKAP1-
-
-
-
3Gain-
SKI-
-
-
-
3Gain-
SKIDA1-
-
-
-
3Gain-
SKIL-
-
-
-
1Loss-
SKOR1-
-
-
-
3Gain-
SKOR2-
-
-
-
6Amp-
SKP2-
-
-
-
6Amp-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLC10A1-
-
-
-
1Loss-
SLC10A2p.Q268R
Missense
MNP
1.000
1Loss-
SLC10A5-
-
-
-
6Amp-
SLC11A2-
-
-
-
3Gain-
SLC12A1-
-
-
-
3Gain-
SLC12A5p.V498Wfs*12
Frame_Shift_Del
DEL
0.472
3Gain-
SLC12A7-
-
-
-
6Amp-
SLC13A2-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
6Amp-
SLC14A2-
-
-
-
6Amp-
SLC15A1p.P390H
Missense
SNP
1.000
1Loss-
SLC15A3-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A3-
-
-
-
3Gain-
SLC16A4-
-
-
-
1Loss-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A7-
-
-
-
3Gain-
SLC16A9-
-
-
-
1Loss-
SLC17A6p.G453V
Missense
SNP
1.000
1Loss-
SLC17A7-
-
-
-
1Loss-
SLC17A8-
-
-
-
3Gain-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
3Gain-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC19A1-
-
-
-
3Gain-
SLC1A1-
-
-
-
3Gain-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
6Amp-
SLC1A5-
-
-
-
1Loss-
SLC1A6-
-
-
-
3Gain-
SLC1A7-
-
-
-
3Gain-
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-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC24A3-
-
-
-
3Gain-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
3Gain-
SLC25A10-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A15-
-
-
-
3Gain-
SLC25A16-
-
-
-
1Loss-
SLC25A18-
-
-
-
3Gain-
SLC25A19-
-
-
-
3Gain-
SLC25A21-
-
-
-
16Amp-
SLC25A23-
-
-
-
3Gain-
SLC25A24-
-
-
-
1Loss-
SLC25A25-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A39-
-
-
-
3Gain-
SLC25A4-
-
-
-
1Loss-
SLC25A41-
-
-
-
3Gain-
SLC25A42-
-
-
-
3Gain-
SLC25A45-
-
-
-
3Gain-
SLC25A47-
-
-
-
1Loss-
SLC25A51-
-
-
-
3Gain-
SLC25A52-
-
-
-
6Amp-
SLC26A10-
-
-
-
3Gain-
SLC26A11-
-
-
-
3Gain-
SLC26A2-
-
-
-
1Loss-
SLC26A7p.V74Cfs*58
Frame_Shift_Ins
INS
0.490
6Amp-
SLC26A9-
-
-
-
1Loss-
SLC27A1-
-
-
-
3Gain-
SLC27A2-
-
-
-
3Gain-
SLC27A4-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC28A2-
-
-
-
3Gain-
SLC28A3-
-
-
-
3Gain-
SLC29A2-
-
-
-
3Gain-
SLC29A3-
-
-
-
1Loss-
SLC2A1-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A11-
-
-
-
3Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A2-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A1-
-
-
-
1Loss-
SLC30A10-
-
-
-
1Loss-
SLC30A4-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC30A9-
-
-
-
1Loss-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC35B1-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35C2-
-
-
-
3Gain-
SLC35D1-
-
-
-
3Gain-
SLC35D2-
-
-
-
3Gain-
SLC35E1-
-
-
-
6Amp-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E3-
-
-
-
3Gain-
SLC35F2-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC35G3-
-
-
-
3Gain-
SLC35G4-
-
-
-
1Loss-
SLC35G5-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
3Gain-
SLC37A1-
-
-
-
3Gain-
SLC37A2-
-
-
-
3Gain-
SLC37A4-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A10-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC38A6-
-
-
-
1Loss-
SLC38A7-
-
-
-
3Gain-
SLC38A8-
-
-
-
3Gain-
SLC39A11-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
3Gain-
SLC39A2-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A6-
-
-
-
6Amp-
SLC39A9-
-
-
-
1Loss-
SLC3A2-
-
-
-
3Gain-
SLC41A1-
-
-
-
1Loss-
SLC41A2-
-
-
-
3Gain-
SLC43A1-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC43A3-
-
-
-
3Gain-
SLC44A1-
-
-
-
3Gain-
SLC44A2-
-
-
-
6Amp-
SLC44A5-
-
-
-
3Gain-
SLC45A2p.W140S
Missense
SNP
0.295
6Amp-
SLC45A3-
-
-
-
1Loss-
SLC46A1-
-
-
-
3Gain-
SLC46A2-
-
-
-
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC47A1-
-
-
-
3Gain-
SLC47A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A1-
-
-
-
3Gain-
SLC4A11-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A8-
-
-
-
3Gain-
SLC51A-
-
-
-
1Loss-
SLC51B-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A3-
-
-
-
3Gain-
SLC5A10-
-
-
-
3Gain-
SLC5A11-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A3-
-
-
-
3Gain-
SLC5A5-
-
-
-
3Gain-
SLC5A8-
-
-
-
3Gain-
SLC5A9-
-
-
-
3Gain-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A16-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A18p.A399Lfs*46
Frame_Shift_Del
DEL
0.357
6Amp-
SLC6A19-
-
-
-
6Amp-
SLC6A2-
-
-
-
3Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
6Amp-
SLC6A4-
-
-
-
3Gain-
SLC6A5-
-
-
-
1Loss-
SLC6A6-
-
-
-
3Gain-
SLC6A7-
-
-
-
1Loss-
SLC6A9-
-
-
-
3Gain-
SLC7A1-
-
-
-
3Gain-
SLC7A10-
-
-
-
1Loss-
SLC7A13-
-
-
-
6Amp-
SLC7A14-
-
-
-
1Loss-
SLC7A2-
-
-
-
3Gain-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC7A9-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC8B1-
-
-
-
3Gain-
SLC9A3-
-
-
-
6Amp-
SLC9A3R1-
-
-
-
3Gain-
SLC9A8-
-
-
-
3Gain-
SLC9A9p.D608Y
Missense
SNP
0.639
2--
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2B1-
-
-
-
3Gain-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
6Amp-
SLF2-
-
-
-
1Loss-
SLFN11-
-
-
-
3Gain-
SLFN12-
-
-
-
3Gain-
SLFN12L-
-
-
-
3Gain-
SLFN13-
-
-
-
3Gain-
SLFN14-
-
-
-
3Gain-
SLFN5-
-
-
-
3Gain-
SLFNL1-
-
-
-
3Gain-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
1Loss-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
3Gain-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
3Gain-
SLU7-
-
-
-
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-
-
-
-
6Amp-
SMARCB1-
-
-
-
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMARCD2-
-
-
-
3Gain-
SMARCE1-
-
-
-
3Gain-
SMC2-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMC5p.T864A
Missense
SNP
0.538
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO1-
-
-
-
1Loss-
SMCO2-
-
-
-
3Gain-
SMCO4-
-
-
-
3Gain-
SMCR8-
-
-
-
3Gain-
SMG1-
-
-
-
1Loss-
SMG6p.E1312V
Missense
SNP
1.000
1Loss-
SMG8-
-
-
-
3Gain-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
3Gain-
SMIM11A-
-
-
-
3Gain-
SMIM11B-
-
-
-
3Gain-
SMIM14-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM21-
-
-
-
6Amp-
SMIM22-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM34A-
-
-
-
3Gain-
SMIM34B-
-
-
-
3Gain-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMIM7-
-
-
-
3Gain-
SMNDC1-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMTNL1-
-
-
-
3Gain-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SMURF2-
-
-
-
3Gain-
SMYD2-
-
-
-
1Loss-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
6Amp-
SNAI3-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC1-
-
-
-
1Loss-
SNAPC2-
-
-
-
3Gain-
SNAPC3-
-
-
-
3Gain-
SNAPC5-
-
-
-
3Gain-
SNCG-
-
-
-
1Loss-
SNF8-
-
-
-
3Gain-
SNIP1-
-
-
-
3Gain-
SNN-
-
-
-
1Loss-
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP200-
-
-
-
1Loss-
SNRNP35-
-
-
-
3Gain-
SNRNP70-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPD2-
-
-
-
1Loss-
SNRPE-
-
-
-
1Loss-
SNRPF-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
6Amp-
SNTN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX1-
-
-
-
3Gain-
SNX11-
-
-
-
3Gain-
SNX13p.L928I
Missense
SNP
0.983
2--
SNX15-
-
-
-
3Gain-
SNX16-
-
-
-
6Amp-
SNX19-
-
-
-
3Gain-
SNX20-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
3Gain-
SNX25-
-
-
-
1Loss-
SNX29-
-
-
-
1Loss-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX32-
-
-
-
3Gain-
SNX5-
-
-
-
3Gain-
SNX6-
-
-
-
6Amp-
SOAT2-
-
-
-
3Gain-
SOBPp.L514I
Missense
SNP
1.000
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
0.485
1Loss-
SORD-
-
-
-
3Gain-
SORL1-
-
-
-
3Gain-
SORT1-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOST-
-
-
-
3Gain-
SOWAHBp.E126G
Missense
SNP
0.706
2--
SOX1-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX13-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
6Amp-
SOX18-
-
-
-
3Gain-
SOX2-
-
-
-
1Loss-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX5-
-
-
-
3Gain-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
3Gain-
SOX9-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP100p.E412*
Nonsense
SNP
0.993
2--
SP110p.R516Q
Missense
SNP
0.074
2--
SP2-
-
-
-
3Gain-
SP6-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SPA17-
-
-
-
3Gain-
SPAAR-
-
-
-
3Gain-
SPACA3-
-
-
-
3Gain-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG16p.V355L
Missense
SNP
0.958
2--
SPAG17-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAG5-
-
-
-
3Gain-
SPAG6-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
3Gain-
SPAG9-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPART-
-
-
-
3Gain-
SPATA1-
-
-
-
3Gain-
SPATA16-
-
-
-
1Loss-
SPATA17-
-
-
-
1Loss-
SPATA18-
-
-
-
3Gain-
SPATA19-
-
-
-
3Gain-
SPATA2-
-
-
-
3Gain-
SPATA20-
-
-
-
3Gain-
SPATA22-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA31A1-
-
-
-
3Gain-
SPATA31A3-
-
-
-
3Gain-
SPATA31A5-
-
-
-
3Gain-
SPATA31A7-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3p.F753Y
p.E755D
Missense
Missense
SNP
SNP
0.983
0.988
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA32-
-
-
-
3Gain-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
1Loss-
SPATA5L1-
-
-
-
3Gain-
SPATA6-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATA7-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATC1L-
-
-
-
3Gain-
SPATS2-
-
-
-
3Gain-
SPCS2-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPDYC-
-
-
-
3Gain-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
6AmpSPECC1--CACNA1A
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPEF2-
-
-
-
6Amp-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPERT-
-
-
-
3Gain-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHK1-
-
-
-
3Gain-
SPHK2-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPIC-
-
-
-
3Gain-
SPIDR-
-
-
-
1Loss-
SPIN1-
-
-
-
3Gain-
SPINDOC-
-
-
-
3Gain-
SPINK2-
-
-
-
0Del-
SPINK4-
-
-
-
3Gain-
SPINT2-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCK2-
-
-
-
1Loss-
SPOP-
-
-
-
3Gain-
SPOUT1-
-
-
-
3Gain-
SPPL2A-
-
-
-
3Gain-
SPPL2C-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRED3-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRTN-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPTAN1-
-
-
-
3Gain-
SPTB-
-
-
-
1Loss-
SPTBN2-
-
-
-
3Gain-
SPTBN4-
-
-
-
1Loss-
SPTLC1-
-
-
-
3Gain-
SPTLC2-
-
-
-
1Loss-
SPTLC3-
-
-
-
3Gain-
SPTSSA-
-
-
-
6Amp-
SPTSSB-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SPX-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SQOR-
-
-
-
3Gain-
SRBD1p.M613T
Missense
SNP
1.000
2--
SRC-
-
-
-
3Gain-
SRCAP-
-
-
-
1Loss-
SRCIN1-
-
-
-
3Gain-
SRD5A1-
-
-
-
6Amp-
SRD5A3-
-
-
-
0Del-
SREBF1-
-
-
-
3Gain-
SRGAP1p.X23_splice
Splice_Site
SNP
0.485
3Gain-
SRGAP2-
-
-
-
1Loss-
SRGAP2C-
-
-
-
1Loss-
SRGAP3-
-
-
-
3Gain-
SRGN-
-
-
-
1Loss-
SRL-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP54-
-
-
-
6Amp-
SRP68-
-
-
-
3Gain-
SRP72-
-
-
-
0Del-
SRP9-
-
-
-
3Gain-
SRPRA-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRRM4-
-
-
-
3Gain-
SRRM5-
-
-
-
1Loss-
SRSF1-
-
-
-
3Gain-
SRSF11p.R250I
Missense
SNP
0.410
3Gain-
SRSF2-
-
-
-
3Gain-
SRSF5-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF8-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
6Amp-
SS18L1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP3-
-
-
-
3Gain-
SSBP4-
-
-
-
3Gain-
SSC4Dp.C482*
Nonsense
SNP
1.000
2--
SSC5D-
-
-
-
1Loss-
SSH1-
-
-
-
3Gain-
SSH2-
-
-
-
3Gain-
SSH3-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSRP1-
-
-
-
3Gain-
SSSCA1-
-
-
-
3Gain-
SST-
-
-
-
1Loss-
SSTR1-
-
-
-
16Amp-
SSTR2-
-
-
-
3Gain-
SSTR4p.A44E
Missense
SNP
0.542
3Gain-
SSU72-
-
-
-
3Gain-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSUH2-
-
-
-
3Gain-
SSX2IP-
-
-
-
3Gain-
ST14-
-
-
-
3Gain-
ST18-
-
-
-
6Amp-
ST3GAL1-
-
-
-
3Gain-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
3Gain-
ST5-
-
-
-
1Loss-
ST6GAL1-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST6GALNAC6-
-
-
-
3Gain-
ST7L-
-
-
-
1Loss-
ST8SIA1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
6Amp-
ST8SIA5-
-
-
-
6Amp-
ST8SIA6-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC-
-
-
-
1Loss-
STAC2-
-
-
-
3Gain-
STAC3.
Splice_Site
SNP
0.447
3Gain-
STAM-
-
-
-
3Gain-
STAMBPL1-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD10-
-
-
-
3Gain-
STARD13-
-
-
-
3Gain-
STARD3-
-
-
-
3Gain-
STARD6-
-
-
-
6Amp-
STARD7-
-
-
-
1Loss-
STAT2-
-
-
-
3Gain-
STAT3-
-
-
-
3Gain-
STAT5A-
-
-
-
3Gain-
STAT5B-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
6Amp-
STC1-
-
-
-
3Gain-
STH-
-
-
-
3Gain-
STIL-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIP1-
-
-
-
3Gain-
STK24-
-
-
-
1Loss-
STK3-
-
-
-
6Amp-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK35-
-
-
-
3Gain-
STK38L-
-
-
-
3Gain-
STK4-
-
-
-
3Gain-
STK40-
-
-
-
3Gain-
STMN2-
-
-
-
6Amp-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
3Gain-
STMND1p.K20E
Missense
SNP
1.000
2--
STN1-
-
-
-
1Loss-
STOM-
-
-
-
3Gain-
STOML1-
-
-
-
3Gain-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG3p.H188Q
Missense
SNP
0.616
2--
STRADA-
-
-
-
3Gain-
STRBP-
-
-
-
3Gain-
STRC-
-
-
-
3Gain-
STRIP1-
-
-
-
1Loss-
STRN3-
-
-
-
11Amp-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
3Gain-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX10-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX17-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX2-
-
-
-
3Gain-
STX3-
-
-
-
3Gain-
STX4-
-
-
-
1Loss-
STX5-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
3Gain-
STXBP2-
-
-
-
3Gain-
STXBP3-
-
-
-
1Loss-
STXBP4-
-
-
-
3Gain-
STXBP6-
-
-
-
11Amp-
STYX-
-
-
-
1Loss-
SUB1-
-
-
-
6Amp-
SUCLA2-
-
-
-
3Gain-
SUCLG2-
-
-
-
1Loss-
SUDS3-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SUGP1-
-
-
-
3Gain-
SUGP2-
-
-
-
3Gain-
SULF1-
-
-
-
6Amp-
SULF2-
-
-
-
3Gain-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SUMF1-
-
-
-
3Gain-
SUMF2p.T344R
Missense
SNP
1.000
2--
SUMO2-
-
-
-
3Gain-
SUMO3-
-
-
-
3Gain-
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-
SVBP-
-
-
-
3Gain-
SVEP1-
-
-
-
3Gain-
SVILp.I660V
Missense
SNP
0.521
3Gain-
SVIP-
-
-
-
1Loss-
SVOP-
-
-
-
3Gain-
SWI5-
-
-
-
3Gain-
SWSAP1-
-
-
-
3Gain-
SYBU-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE2-
-
-
-
3Gain-
SYCN-
-
-
-
1Loss-
SYCP1-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYDE1-
-
-
-
3Gain-
SYDE2-
-
-
-
3Gain-
SYK-
-
-
-
3Gain-
SYMPK-
-
-
-
1Loss-
SYN2p.T506N
Missense
SNP
0.282
3Gain-
SYNDIG1-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNE4-
-
-
-
1Loss-
SYNGR2-
-
-
-
3Gain-
SYNGR4-
-
-
-
1Loss-
SYNJ1-
-
-
-
3Gain-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2p.E1039V
Missense
SNP
0.364
2--
SYNPO2L-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYNRG-
-
-
-
3Gain-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
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-
SYT9-
-
-
-
1Loss-
SYTL2-
-
-
-
3Gain-
SYVN1-
-
-
-
3Gain-
SZT2-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TAC4-
-
-
-
3Gain-
TACC1-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TACR2-
-
-
-
1Loss-
TACSTD2-
-
-
-
3Gain-
TADA2A-
-
-
-
3Gain-
TADA3-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF15-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
3Gain-
TAF1L-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
6Amp-
TAF5-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF6L-
-
-
-
3Gain-
TAGLN-
-
-
-
3Gain-
TAL1-
-
-
-
3Gain-
TAL2-
-
-
-
3Gain-
TAMM41-
-
-
-
3Gain-
TANC2-
-
-
-
3Gain-
TANGO2-
-
-
-
3Gain-
TAOK1-
-
-
-
3Gain-
TAOK2-
-
-
-
1Loss-
TAOK3-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TARM1-
-
-
-
1Loss-
TARS-
-
-
-
6Amp-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R1p.G132V
Missense
SNP
0.651
6Amp-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN2-
-
-
-
3Gain-
TATDN3-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10B-
-
-
-
1Loss-
TBC1D10C-
-
-
-
3Gain-
TBC1D12-
-
-
-
1Loss-
TBC1D13-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D16-
-
-
-
3Gain-
TBC1D17-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
3Gain-
TBC1D21p.Q158E
Missense
SNP
0.490
3Gain-
TBC1D26-
-
-
-
3Gain-
TBC1D28-
-
-
-
3Gain-
TBC1D29-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D31-
-
-
-
3Gain-
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
0.957
2--
TBCB-
-
-
-
1Loss-
TBCCD1-
-
-
-
1Loss-
TBCD-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBKBP1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG1-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TBX10-
-
-
-
3Gain-
TBX15-
-
-
-
1Loss-
TBX2-
-
-
-
3Gain-
TBX21-
-
-
-
3Gain-
TBX3p.L706M
Missense
SNP
0.493
3Gain-
TBX4p.V269E
Missense
SNP
0.476
3Gain-
TBX5-
-
-
-
3Gain-
TBX6-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCAP-
-
-
-
3Gain-
TCEA1-
-
-
-
6Amp-
TCEA2-
-
-
-
3Gain-
TCEANC2-
-
-
-
3Gain-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
3Gain-
TCF15-
-
-
-
3Gain-
TCF24-
-
-
-
6Amp-
TCF25-
-
-
-
1Loss-
TCF4-
-
-
-
6Amp-
TCF7L2-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHP-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCIRG1-
-
-
-
3Gain-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN1-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP10L-
-
-
-
3Gain-
TCP11L1-
-
-
-
1Loss-
TCP11L2-
-
-
-
3Gain-
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
1Loss-
TCTEX1D4-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
3Gain-
TDP1-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD12-
-
-
-
1Loss-
TDRD3-
-
-
-
5Amp-
TDRD7-
-
-
-
3Gain-
TDRP-
-
-
-
3Gain-
TEAD2-
-
-
-
1Loss-
TECR-
-
-
-
3Gain-
TECTAp.V1618L
Missense
SNP
0.392
3Gain-
TECTB-
-
-
-
1Loss-
TEFM-
-
-
-
3Gain-
TEK-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
3Gain-
TEKT3-
-
-
-
3Gain-
TEKT4-
-
-
-
1Loss-
TEKT5-
-
-
-
1Loss-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
3Gain-
TENT4A-
-
-
-
6Amp-
TENT4B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TEP1-
-
-
-
3Gain-
TEPP-
-
-
-
3Gain-
TEPSIN-
-
-
-
3Gain-
TERB2-
-
-
-
3Gain-
TERF1-
-
-
-
6Amp-
TERTp.H816N
Missense
SNP
0.366
6Amp-
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-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX45-
-
-
-
3Gain-
TEX48-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX9-
-
-
-
3Gain-
TFAM-
-
-
-
1Loss-
TFAP2Ap.G20S
Missense
SNP
1.000
2--
TFAP2C-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFCP2-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFPI-
-
-
-
1Loss-
TFPT-
-
-
-
1Loss-
TFRC-
-
-
-
1Loss-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFB1I1-
-
-
-
1Loss-
TGFB2-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
3Gain-
TGIF1-
-
-
-
1Loss-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGS1-
-
-
-
6Amp-
TH-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THAP10-
-
-
-
3Gain-
THAP12-
-
-
-
3Gain-
THAP2-
-
-
-
3Gain-
THAP3-
-
-
-
3Gain-
THAP7-
-
-
-
3Gain-
THAP8-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THEGL-
-
-
-
0Del-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
3Gain-
THOC1-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
1Loss-
THRA-
-
-
-
3Gain-
THRAP3-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
3Gain-
THSD4-
-
-
-
3Gain-
THTPA-
-
-
-
3Gain-
THUMPD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
3Gain-
THY1-
-
-
-
3Gain-
THYN1-
-
-
-
3Gain-
TIAF1-
-
-
-
3Gain-
TIAL1-
-
-
-
1Loss-
TIAM1-
-
-
-
3Gain-
TIE1-
-
-
-
3Gain-
TIGD3-
-
-
-
3Gain-
TIGD6-
-
-
-
1Loss-
TIMD4p.E227*
Nonsense
SNP
1.000
1Loss-
TIMELESS-
-
-
-
3Gain-
TIMM10-
-
-
-
3Gain-
TIMM10B-
-
-
-
1Loss-
TIMM17A-
-
-
-
1Loss-
TIMM21-
-
-
-
6Amp-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM29-
-
-
-
6Amp-
TIMM44-
-
-
-
3Gain-
TIMM50-
-
-
-
1Loss-
TIMM8B-
-
-
-
3Gain-
TIMM9-
-
-
-
1Loss-
TIMP2-
-
-
-
3Gain-
TIMP4-
-
-
-
5Amp-
TINAGp.G181Efs*2
Frame_Shift_Del
DEL
1.000
2--
TINF2-
-
-
-
1Loss-
TIPINp.F123V
Missense
SNP
0.430
3Gain-
TIRAP-
-
-
-
3Gain-
TJP2-
-
-
-
3Gain-
TK1-
-
-
-
3Gain-
TKFC-
-
-
-
3Gain-
TLCD1-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE1-
-
-
-
3Gain-
TLE4-
-
-
-
3Gain-
TLK2-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLN1-
-
-
-
3Gain-
TLN2-
-
-
-
3Gain-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR4p.G668C
Missense
SNP
0.521
3Gain-
TLR5-
-
-
-
3Gain-
TLR6-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM2D2-
-
-
-
1Loss-
TM2D3-
-
-
-
1Loss-
TM4SF19-
-
-
-
1Loss-
TM4SF19-TCTEX1D2-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF2-
-
-
-
3Gain-
TM7SF2-
-
-
-
3Gain-
TM7SF3-
-
-
-
3Gain-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TM9SF4-
-
-
-
1Loss-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMC1-
-
-
-
3Gain-
TMC2-
-
-
-
3Gain-
TMC4-
-
-
-
1Loss-
TMC5-
-
-
-
1Loss-
TMC6-
-
-
-
3Gain-
TMC7-
-
-
-
1Loss-
TMC8-
-
-
-
3Gain-
TMCC2-
-
-
-
1Loss-
TMCC3-
-
-
-
3Gain-
TMCO2-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMED1-
-
-
-
6Amp-
TMED10-
-
-
-
1Loss-
TMED2-
-
-
-
3Gain-
TMED3p.D174Y
Missense
SNP
0.994
2--
TMED8-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEM100-
-
-
-
3Gain-
TMEM101-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
3Gain-
TMEM106A-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM109-
-
-
-
3Gain-
TMEM11-
-
-
-
3Gain-
TMEM114-
-
-
-
1Loss-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120Bp.S2Y
Missense
SNP
0.459
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM123-
-
-
-
3Gain-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
3Gain-
TMEM126B-
-
-
-
3Gain-
TMEM127-
-
-
-
1Loss-
TMEM131-
-
-
-
3Gain-
TMEM132A-
-
-
-
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM132E-
-
-
-
3Gain-
TMEM134-
-
-
-
3Gain-
TMEM135-
-
-
-
3Gain-
TMEM136-
-
-
-
3Gain-
TMEM138-
-
-
-
3Gain-
TMEM143-
-
-
-
1Loss-
TMEM144p.G71V
Missense
SNP
0.694
2--
TMEM145-
-
-
-
1Loss-
TMEM147-
-
-
-
1Loss-
TMEM150B-
-
-
-
1Loss-
TMEM151A-
-
-
-
3Gain-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
3Gain-
TMEM165-
-
-
-
0Del-
TMEM167B-
-
-
-
1Loss-
TMEM179B-
-
-
-
3Gain-
TMEM183A-
-
-
-
1Loss-
TMEM186-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM190-
-
-
-
1Loss-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM199-
-
-
-
3Gain-
TMEM200C-
-
-
-
1Loss-
TMEM202-
-
-
-
6Amp-
TMEM205-
-
-
-
3Gain-
TMEM206-
-
-
-
1Loss-
TMEM207-
-
-
-
1Loss-
TMEM212-
-
-
-
1Loss-
TMEM215-
-
-
-
3Gain-
TMEM216-
-
-
-
3Gain-
TMEM218-
-
-
-
3Gain-
TMEM219-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
3Gain-
TMEM223-
-
-
-
3Gain-
TMEM225-
-
-
-
3Gain-
TMEM229B-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM235-
-
-
-
3Gain-
TMEM236-
-
-
-
3Gain-
TMEM238-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM25-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM252-
-
-
-
3Gain-
TMEM253-
-
-
-
3Gain-
TMEM254-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
3Gain-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM262-
-
-
-
3Gain-
TMEM263-
-
-
-
3Gain-
TMEM267-
-
-
-
3Gain-
TMEM268-
-
-
-
3Gain-
TMEM269-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM38A-
-
-
-
3Gain-
TMEM38B-
-
-
-
3Gain-
TMEM40-
-
-
-
3Gain-
TMEM41A-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
3Gain-
TMEM44-
-
-
-
1Loss-
TMEM45B-
-
-
-
3Gain-
TMEM50B-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM53-
-
-
-
3Gain-
TMEM59-
-
-
-
3Gain-
TMEM59L-
-
-
-
3Gain-
TMEM61-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
6Amp-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
6Amp-
TMEM68-
-
-
-
6Amp-
TMEM69-
-
-
-
3Gain-
TMEM70-
-
-
-
6Amp-
TMEM71-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM74-
-
-
-
3Gain-
TMEM74B-
-
-
-
3Gain-
TMEM81-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM86B-
-
-
-
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-
TMIGD3-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS12-
-
-
-
3Gain-
TMPRSS13-
-
-
-
3Gain-
TMPRSS15p.Q559L
Missense
SNP
0.481
3Gain-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS4-
-
-
-
3Gain-
TMPRSS5-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4-
-
-
-
1Loss-
TMUB2-
-
-
-
3Gain-
TMX1-
-
-
-
1Loss-
TMX2-
-
-
-
3Gain-
TMX2-CTNND1-
-
-
-
3Gain-
TMX3-
-
-
-
6Amp-
TMX4-
-
-
-
3Gain-
TNC-
-
-
-
3Gain-
TNFAIP1-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
6Amp-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
3Gain-
TNFRSF14-
-
-
-
3Gain-
TNFRSF17-
-
-
-
1Loss-
TNFRSF18-
-
-
-
3Gain-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFSF10-
-
-
-
1Loss-
TNFSF11-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF14-
-
-
-
3Gain-
TNFSF15-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNFSF9-
-
-
-
3Gain-
TNIK-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
1Loss-
TNKS-
-
-
-
3Gain-
TNKS1BP1-
-
-
-
3Gain-
TNKS2-
-
-
-
1Loss-
TNNC2-
-
-
-
3Gain-
TNNI1-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNI3K-
-
-
-
3Gain-
TNNT1-
-
-
-
1Loss-
TNNT2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP2-
-
-
-
1Loss-
TNRC6A-
-
-
-
1Loss-
TNRC6C-
-
-
-
3Gain-
TNS2-
-
-
-
3Gain-
TNS4-
-
-
-
3Gain-
TOB1-
-
-
-
3Gain-
TOE1-
-
-
-
3Gain-
TOGARAM1-
-
-
-
8Amp-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM20L-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM40-
-
-
-
1Loss-
TOMM5-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP2A-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
3Gain-
TOP3B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
1Loss-
TOPORSp.G960Wfs*8
Frame_Shift_Ins
INS
0.344
3Gain-
TOR1A-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOX-
-
-
-
6Amp-
TOX2-
-
-
-
3Gain-
TOX3-
-
-
-
3Gain-
TOX4-
-
-
-
3Gain-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
3Gain-
TP53BP2-
-
-
-
3Gain-
TP53I11-
-
-
-
1Loss-
TP53I13-
-
-
-
3Gain-
TP53INP1-
-
-
-
6Amp-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP63-
-
-
-
1Loss-
TP73-
-
-
-
3Gain-
TPBGL-
-
-
-
3Gain-
TPCN1-
-
-
-
3Gain-
TPCN2-
-
-
-
3Gain-
TPD52-
-
-
-
6Amp-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
3Gain-
TPGS2-
-
-
-
6Amp-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
3Gain-
TPM1-
-
-
-
3Gain-
TPM2-
-
-
-
3Gain-
TPM4-
-
-
-
3Gain-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP-
-
-
-
6Amp-
TPPP2-
-
-
-
3Gain-
TPR-
-
-
-
1Loss-
TPRA1p.Y84*
Nonsense
SNP
0.634
2--
TPRG1-
-
-
-
1Loss-
TPRG1L-
-
-
-
3Gain-
TPRX1-
-
-
-
1Loss-
TPT1-
-
-
-
3Gain-
TPTE-
-
-
-
3Gain-
TPX2-
-
-
-
1Loss-
TRA2B-
-
-
-
1Loss-
TRABD2B-
-
-
-
3Gain-
TRAF1-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
1Loss-
TRAF4-
-
-
-
3Gain-
TRAF5-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAFD1-
-
-
-
3Gain-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
6Amp-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
3Gain-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC4-
-
-
-
3Gain-
TRAPPC5-
-
-
-
3Gain-
TRAPPC6A-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
10Amp-
TRAPPC8-
-
-
-
6Amp-
TRARG1-
-
-
-
1Loss-
TRDMT1-
-
-
-
3Gain-
TRDV1-
-
-
-
3Gain-
TREH-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIM10p.L192M
Missense
SNP
0.989
2--
TRIM11-
-
-
-
3Gain-
TRIM14-
-
-
-
3Gain-
TRIM16-
-
-
-
3Gain-
TRIM16L-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM32-
-
-
-
3Gain-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
3Gain-
TRIM37-
-
-
-
3Gain-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM45-
-
-
-
1Loss-
TRIM47-
-
-
-
3Gain-
TRIM49-
-
-
-
3Gain-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
3Gain-
TRIM49D1-
-
-
-
3Gain-
TRIM49D2-
-
-
-
3Gain-
TRIM5-
-
-
-
1Loss-
TRIM51-
-
-
-
3Gain-
TRIM51GP-
-
-
-
1Loss-
TRIM55-
-
-
-
6Amp-
TRIM58-
-
-
-
5Amp-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM64B-
-
-
-
3Gain-
TRIM64C-
-
-
-
1Loss-
TRIM65-
-
-
-
3Gain-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIM72-
-
-
-
1Loss-
TRIM77p.V198L
Missense
SNP
0.489
3Gain-
TRIM8-
-
-
-
1Loss-
TRIM9p.Q40R
Missense
MNP
0.992
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
6Amp-
TRIP10-
-
-
-
3Gain-
TRIP11-
-
-
-
1Loss-
TRIP13-
-
-
-
6Amp-
TRIP4-
-
-
-
3Gain-
TRIQK-
-
-
-
6Amp-
TRIT1-
-
-
-
3Gain-
TRMOp.S193C
Missense
SNP
0.522
3Gain-
TRMT1-
-
-
-
3Gain-
TRMT10B-
-
-
-
3Gain-
TRMT112-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT2A-
-
-
-
3Gain-
TRMT5-
-
-
-
1Loss-
TRMT6-
-
-
-
3Gain-
TRMT9B-
-
-
-
3Gain-
TRNT1-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TROVE2-
-
-
-
1Loss-
TRPA1-
-
-
-
6Amp-
TRPC4-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPC6-
-
-
-
3Gain-
TRPM2-
-
-
-
3Gain-
TRPM3-
-
-
-
3Gain-
TRPM4-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM6p.R38I
Missense
SNP
0.533
3Gain-
TRPM7-
-
-
-
3Gain-
TRPS1-
-
-
-
3Gain-
TRPT1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
3Gain-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
3Gain-
TRUB1-
-
-
-
1Loss-
TRUB2-
-
-
-
3Gain-
TSC22D1-
-
-
-
3Gain-
TSC22D2p.P274A
Missense
SNP
0.649
2--
TSEN2-
-
-
-
3Gain-
TSEN34-
-
-
-
1Loss-
TSEN54-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSG101-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSGA10IP-
-
-
-
3Gain-
TSHB-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ1p.D709V
Missense
SNP
0.682
6Amp-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
1Loss-
TSKS-
-
-
-
1Loss-
TSKU-
-
-
-
3Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN1-
-
-
-
3Gain-
TSPAN10-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN16-
-
-
-
3Gain-
TSPAN18-
-
-
-
1Loss-
TSPAN19-
-
-
-
3Gain-
TSPAN2-
-
-
-
1Loss-
TSPAN31-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN8p.W161L
Missense
SNP
0.467
3Gain-
TSPEAR-
-
-
-
3Gain-
TSPOAP1-
-
-
-
3Gain-
TSPYL5-
-
-
-
6Amp-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK2-
-
-
-
3Gain-
TSSK4-
-
-
-
1Loss-
TSSK6-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC14-
-
-
-
1Loss-
TTC16-
-
-
-
3Gain-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
3Gain-
TTC21A-
-
-
-
1Loss-
TTC22-
-
-
-
3Gain-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
6Amp-
TTC25-
-
-
-
3Gain-
TTC3-
-
-
-
3Gain-
TTC33-
-
-
-
6Amp-
TTC34-
-
-
-
3Gain-
TTC36-
-
-
-
3Gain-
TTC39A-
-
-
-
3Gain-
TTC39B-
-
-
-
3Gain-
TTC39C-
-
-
-
6Amp-
TTC4-
-
-
-
3Gain-
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
16Amp-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTC9B-
-
-
-
1Loss-
TTC9C-
-
-
-
3Gain-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
3Gain-
TTLL10-
-
-
-
3Gain-
TTLL11-
-
-
-
3Gain-
TTLL3-
-
-
-
3Gain-
TTLL5-
-
-
-
1Loss-
TTLL6-
-
-
-
3Gain-
TTLL7-
-
-
-
3Gain-
TTLL9-
-
-
-
1Loss-
TTNp.W18600R
p.I8652T
Missense
Missense
SNP
SNP
0.981
1.000
2--
TTPA-
-
-
-
6Amp-
TTPAL-
-
-
-
3Gain-
TTR-
-
-
-
6Amp-
TTYH1-
-
-
-
1Loss-
TTYH2-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
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-
TUBGCP5-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TULP2-
-
-
-
1Loss-
TUSC1-
-
-
-
3Gain-
TUSC3-
-
-
-
3Gain-
TUT1-
-
-
-
3Gain-
TUT4-
-
-
-
3Gain-
TUT7-
-
-
-
3Gain-
TVP23A-
-
-
-
1Loss-
TVP23B-
-
-
-
3Gain-
TVP23C-
-
-
-
3Gain-
TVP23C-CDRT4-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXN-
-
-
-
3Gain-
TXNDC11-
-
-
-
1Loss-
TXNDC12-
-
-
-
3Gain-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNDC9-
-
-
-
3Gain-
TXNL1-
-
-
-
6Amp-
TXNL4A-
-
-
-
6Amp-
TXNRD1-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TYK2-
-
-
-
6Amp-
TYMS-
-
-
-
1Loss-
TYR-
-
-
-
3Gain-
TYROBP-
-
-
-
1Loss-
TYRP1-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
TYW3-
-
-
-
3Gain-
U2AF1-
-
-
-
3Gain-
U2AF1L4-
-
-
-
1Loss-
U2AF1L5-
-
-
-
3Gain-
U2AF2-
-
-
-
1Loss-
UACA-
-
-
-
3Gain-
UBA2-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBAP1p.S406Y
Missense
SNP
0.502
3Gain-
UBAP1L-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBASH3A-
-
-
-
3Gain-
UBASH3B-
-
-
-
3Gain-
UBB-
-
-
-
3Gain-
UBC-
-
-
-
3Gain-
UBE2C-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2J2-
-
-
-
3Gain-
UBE2K-
-
-
-
1Loss-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
3Gain-
UBE2M-
-
-
-
1Loss-
UBE2N-
-
-
-
3Gain-
UBE2O-
-
-
-
3Gain-
UBE2QL1-
-
-
-
6Amp-
UBE2R2-
-
-
-
3Gain-
UBE2S-
-
-
-
1Loss-
UBE2T-
-
-
-
1Loss-
UBE2U-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
1Loss-
UBE2W-
-
-
-
6Amp-
UBE2Z-
-
-
-
3Gain-
UBE3A-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UBE4A-
-
-
-
3Gain-
UBFD1-
-
-
-
1Loss-
UBL3-
-
-
-
3Gain-
UBL4B-
-
-
-
1Loss-
UBL5-
-
-
-
6Amp-
UBLCP1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTF-
-
-
-
3Gain-
UBTFL1-
-
-
-
3Gain-
UBXN1-
-
-
-
3Gain-
UBXN2B-
-
-
-
6Amp-
UBXN7-
-
-
-
1Loss-
UBXN8-
-
-
-
3Gain-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCHL5-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UCP2-
-
-
-
3Gain-
UCP3-
-
-
-
3Gain-
UEVLD-
-
-
-
1Loss-
UFD1-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UFSP2-
-
-
-
1Loss-
UGCG-
-
-
-
3Gain-
UGDH-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT2A1p.V262I
Missense
SNP
0.739
2--
UGT3A1-
-
-
-
6Amp-
UGT3A2-
-
-
-
6Amp-
UHRF1BP1L-
-
-
-
3Gain-
UHRF2-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
ULK2-
-
-
-
3Gain-
ULK4-
-
-
-
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
1.000
2--
UNC5B-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC93B1-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UNK-
-
-
-
3Gain-
UPB1-
-
-
-
3Gain-
UPF1-
-
-
-
3Gain-
UPF2-
-
-
-
3Gain-
UPF3A-
-
-
-
1Loss-
UPK1A-
-
-
-
1Loss-
UPK2-
-
-
-
3Gain-
UQCC1-
-
-
-
3Gain-
UQCC3-
-
-
-
3Gain-
UQCRB-
-
-
-
6Amp-
UQCRC2-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRH-
-
-
-
3Gain-
URAD-
-
-
-
3Gain-
URB1-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URI1-
-
-
-
1Loss-
URM1-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USB1-
-
-
-
3Gain-
USE1-
-
-
-
3Gain-
USF2-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USH1G-
-
-
-
3Gain-
USH2Ap.P3025T
Missense
SNP
1.000
1Loss-
USHBP1-
-
-
-
3Gain-
USP1-
-
-
-
3Gain-
USP10-
-
-
-
1Loss-
USP12-
-
-
-
3Gain-
USP13-
-
-
-
1Loss-
USP14-
-
-
-
1Loss-
USP15-
-
-
-
3Gain-
USP16-
-
-
-
3Gain-
USP17L7-
-
-
-
3Gain-
USP18-
-
-
-
3Gain-
USP2-
-
-
-
3Gain-
USP20-
-
-
-
3Gain-
USP22-
-
-
-
3Gain-
USP24-
-
-
-
3Gain-
USP25-
-
-
-
3Gain-
USP28-
-
-
-
3Gain-
USP29p.G45E
Missense
SNP
0.414
1Loss-
USP3-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP31-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP35-
-
-
-
3Gain-
USP36-
-
-
-
3Gain-
USP41-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
3Gain-
USP46-
-
-
-
3Gain-
USP50-
-
-
-
3Gain-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
3Gain-
USP7-
-
-
-
1Loss-
USP8-
-
-
-
3Gain-
USPL1-
-
-
-
3Gain-
UTF1-
-
-
-
1Loss-
UTP11-
-
-
-
3Gain-
UTP18-
-
-
-
3Gain-
UTP20-
-
-
-
3Gain-
UTP23-
-
-
-
3Gain-
UTP25-
-
-
-
1Loss-
UTP6-
-
-
-
3Gain-
UTS2B-
-
-
-
1Loss-
UTS2R-
-
-
-
3Gain-
UVRAG-
-
-
-
3Gain-
VAMP2-
-
-
-
1Loss-
VANGL1-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VASH2-
-
-
-
1Loss-
VASN-
-
-
-
1Loss-
VASP-
-
-
-
1Loss-
VAT1-
-
-
-
3Gain-
VAV1-
-
-
-
3Gain-
VAV3-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCP-
-
-
-
3Gain-
VCPIP1-
-
-
-
6Amp-
VCPKMT-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VDR-
-
-
-
3Gain-
VEGFB-
-
-
-
3Gain-
VENTX-
-
-
-
1Loss-
VEZF1-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VILL-
-
-
-
1Loss-
VIMp.R10L
Missense
SNP
0.413
3Gain-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
6Amp-
VKORC1-
-
-
-
1Loss-
VLDLR-
-
-
-
3Gain-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
3Gain-
VPS13A-
-
-
-
3Gain-
VPS13B-
-
-
-
6AmpVPS13B--RB1
VPS13C-
-
-
-
3Gain-
VPS16-
-
-
-
3Gain-
VPS25-
-
-
-
3Gain-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
3Gain-
VPS26C-
-
-
-
3Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS37Ap.R333I
Missense
SNP
0.368
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37C-
-
-
-
3Gain-
VPS4B-
-
-
-
6Amp-
VPS51-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS8-
-
-
-
1Loss-
VPS9D1-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10-
-
-
-
3Gain-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
3Gain-
VSIG2-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM1-
-
-
-
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-
VWA5B2-
-
-
-
1Loss-
VWA8-
-
-
-
3Gain-
VWCE-
-
-
-
3Gain-
VXN-
-
-
-
6Amp-
WAC-
-
-
-
3Gain-
WAPL-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WARS2-
-
-
-
1Loss-
WASF3-
-
-
-
3Gain-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WBP1L-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR34-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR38-
-
-
-
3Gain-
WDR4-
-
-
-
3Gain-
WDR45B-
-
-
-
3Gain-
WDR47-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
1Loss-
WDR53-
-
-
-
1Loss-
WDR62-
-
-
-
1Loss-
WDR63-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR7-
-
-
-
6Amp-
WDR70p.M25I
Missense
SNP
0.357
6Amp-
WDR72-
-
-
-
3Gain-
WDR74-
-
-
-
3Gain-
WDR76-
-
-
-
3Gain-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WDYHV1-
-
-
-
3Gain-
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-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WIPF2-
-
-
-
3Gain-
WIPI1-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WIZ-
-
-
-
3Gain-
WLS-
-
-
-
3Gain-
WNK2-
-
-
-
3Gain-
WNK4-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT11-
-
-
-
3Gain-
WNT2B-
-
-
-
1Loss-
WNT3-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
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
0.564
3Gain-
WT1-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWP1-
-
-
-
6Amp-
XAB2-
-
-
-
3Gain-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR3-
-
-
-
3Gain-
XKR4-
-
-
-
6Amp-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR7-
-
-
-
1Loss-
XKR9-
-
-
-
6Amp-
XPA-
-
-
-
3Gain-
XPC-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPNPEP2p.V45I
Missense
SNP
1.000
NDND-
XPO6-
-
-
-
1Loss-
XPO7p.E12Q
Missense
SNP
0.459
3Gain-
XPOT-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
XRN2-
-
-
-
3Gain-
XRRA1-
-
-
-
3Gain-
XXYLT1-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
XYLT1-
-
-
-
1Loss-
XYLT2-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YAP1-
-
-
-
3Gain-
YBEY-
-
-
-
3Gain-
YBX1-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YEATS2-
-
-
-
1Loss-
YEATS4-
-
-
-
3Gain-
YES1-
-
-
-
1Loss-
YIF1A-
-
-
-
3Gain-
YIF1B-
-
-
-
1Loss-
YIPF1-
-
-
-
3Gain-
YIPF2-
-
-
-
6Amp-
YJEFN3-
-
-
-
3Gain-
YLPM1-
-
-
-
1Loss-
YME1L1-
-
-
-
3Gain-
YOD1-
-
-
-
1Loss-
YPEL1-
-
-
-
3Gain-
YPEL2-
-
-
-
3Gain-
YPEL3-
-
-
-
1Loss-
YPEL4-
-
-
-
3Gain-
YRDC-
-
-
-
3Gain-
YTHDF1-
-
-
-
3Gain-
YTHDF3-
-
-
-
6Amp-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAZ-
-
-
-
3Gain-
YY1-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZACN-
-
-
-
3Gain-
ZADH2-
-
-
-
6Amp-
ZAP70-
-
-
-
3Gain-
ZAR1L-
-
-
-
3Gain-
ZBBX-
-
-
-
1Loss-
ZBED6-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBP1-
-
-
-
3Gain-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
6Amp-
ZBTB14-
-
-
-
1Loss-
ZBTB16-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB21-
-
-
-
3Gain-
ZBTB25-
-
-
-
1Loss-
ZBTB26-
-
-
-
3Gain-
ZBTB3-
-
-
-
3Gain-
ZBTB32-
-
-
-
1Loss-
ZBTB34-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB41-
-
-
-
1Loss-
ZBTB43-
-
-
-
3Gain-
ZBTB44-
-
-
-
3Gain-
ZBTB45-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
3Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
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-
ZC3H4p.R83L
Missense
SNP
1.000
1Loss-
ZC3H7Ap.E233Q
Missense
SNP
1.000
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCCHC2-
-
-
-
6Amp-
ZCCHC24-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC7-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZCWPW2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
6Amp-
ZDHHC11B-
-
-
-
6Amp-
ZDHHC12-
-
-
-
3Gain-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC19-
-
-
-
1Loss-
ZDHHC2-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC22-
-
-
-
1Loss-
ZDHHC24-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC5-
-
-
-
3Gain-
ZDHHC6-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZEB1-
-
-
-
3Gain-
ZER1-
-
-
-
3Gain-
ZFAND1-
-
-
-
6Amp-
ZFAND4-
-
-
-
1Loss-
ZFAND5-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFHX2-
-
-
-
3Gain-
ZFHX3p.X1073_splice
Splice_Site
DEL
1.000
2--
ZFHX4-
-
-
-
6Amp-
ZFP14-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP36-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP37-
-
-
-
3Gain-
ZFP42-
-
-
-
1Loss-
ZFP64-
-
-
-
3Gain-
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP82-
-
-
-
1Loss-
ZFP90p.D454N
Missense
SNP
0.997
2--
ZFP91-
-
-
-
3Gain-
ZFP91-CNTF-
-
-
-
3Gain-
ZFP92p.T80N
Missense
SNP
1.000
NDND-
ZFPL1-
-
-
-
3Gain-
ZFPM1-
-
-
-
1Loss-
ZFPM2-
-
-
-
3Gain-
ZFR-
-
-
-
6Amp-
ZFYVE1-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE9-
-
-
-
3Gain-
ZG16-
-
-
-
1Loss-
ZGLP1-
-
-
-
6Amp-
ZGPAT-
-
-
-
3Gain-
ZGRF1p.D1380N
Missense
SNP
0.321
2--
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT3-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMIZ1-
-
-
-
1Loss-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1p.V907L
Missense
SNP
1.000
2--
ZMYND11-
-
-
-
3Gain-
ZMYND12-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF10-
-
-
-
3Gain-
ZNF100-
-
-
-
2-ZNF100--AKAP10
ZNF101-
-
-
-
6Amp-
ZNF112-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF121-
-
-
-
3Gain-
ZNF124-
-
-
-
5Amp-
ZNF131-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF133-
-
-
-
3Gain-
ZNF134-
-
-
-
1Loss-
ZNF135p.S587Y
Missense
SNP
1.000
1Loss-
ZNF136-
-
-
-
5Amp-
ZNF14p.K79R
Missense
SNP
0.281
6Amp-
ZNF140-
-
-
-
3Gain-
ZNF146-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF169-
-
-
-
3Gain-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
3Gain-
ZNF18-
-
-
-
3Gain-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF189-
-
-
-
3Gain-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF2-
-
-
-
1Loss-
ZNF202-
-
-
-
3Gain-
ZNF208p.H1051Q
Missense
SNP
0.438
3Gain-
ZNF211-
-
-
-
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-
ZNF230-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234p.T507A
Missense
SNP
0.989
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF236-
-
-
-
6Amp-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
6Amp-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF260-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
3Gain-
ZNF267-
-
-
-
1Loss-
ZNF268-
-
-
-
3Gain-
ZNF274-
-
-
-
1Loss-
ZNF275p.K192N
Missense
SNP
1.000
NDND-
ZNF276-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF281-
-
-
-
1Loss-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF286A-
-
-
-
3Gain-
ZNF286B-
-
-
-
3Gain-
ZNF287-
-
-
-
3Gain-
ZNF296-
-
-
-
1Loss-
ZNF30-
-
-
-
1Loss-
ZNF300-
-
-
-
1Loss-
ZNF302-
-
-
-
1Loss-
ZNF304-
-
-
-
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-
ZNF385A-
-
-
-
3Gain-
ZNF385B-
-
-
-
1Loss-
ZNF385C-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF395-
-
-
-
3Gain-
ZNF396-
-
-
-
6Amp-
ZNF397-
-
-
-
6Amp-
ZNF404-
-
-
-
1Loss-
ZNF407-
-
-
-
6Amp-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF414-
-
-
-
5Amp-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF426p.H487Q
Missense
SNP
0.546
3Gain-
ZNF428-
-
-
-
1Loss-
ZNF43p.I32F
Missense
SNP
0.562
3Gain-
ZNF432-
-
-
-
1Loss-
ZNF433-
-
-
-
3Gain-
ZNF438-
-
-
-
3Gain-
ZNF439-
-
-
-
3Gain-
ZNF44-
-
-
-
5Amp-
ZNF440-
-
-
-
3Gain-
ZNF441-
-
-
-
3Gain-
ZNF442-
-
-
-
5Amp-
ZNF444-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
1Loss-
ZNF462-
-
-
-
3Gain-
ZNF468-
-
-
-
1Loss-
ZNF469-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF473-
-
-
-
1Loss-
ZNF474-
-
-
-
3Gain-
ZNF479p.E100G
Missense
SNP
0.980
2--
ZNF48-
-
-
-
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF485p.K221Q
Missense
SNP
1.000
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF491-
-
-
-
3Gain-
ZNF492-
-
-
-
3Gain-
ZNF496-
-
-
-
5Amp-
ZNF497-
-
-
-
1Loss-
ZNF500-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF503-
-
-
-
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
0.987
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF529-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
6Amp-
ZNF534-
-
-
-
1Loss-
ZNF536p.E1151Rfs*5
Frame_Shift_Ins
INS
0.480
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF541-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF546-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF557-
-
-
-
3Gain-
ZNF558-
-
-
-
5Amp-
ZNF559-
-
-
-
3Gain-
ZNF559-ZNF177-
-
-
-
3Gain-
ZNF560-
-
-
-
3Gain-
ZNF561-
-
-
-
3Gain-
ZNF562-
-
-
-
3Gain-
ZNF563-
-
-
-
5Amp-
ZNF565-
-
-
-
1Loss-
ZNF566-
-
-
-
1Loss-
ZNF567-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
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-
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-
-
-
-
6Amp-
ZNF624-
-
-
-
3Gain-
ZNF627-
-
-
-
3Gain-
ZNF628-
-
-
-
1Loss-
ZNF629-
-
-
-
1Loss-
ZNF639-
-
-
-
1Loss-
ZNF641-
-
-
-
3Gain-
ZNF646-
-
-
-
1Loss-
ZNF649-
-
-
-
1Loss-
ZNF652-
-
-
-
3Gain-
ZNF653-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
3Gain-
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-
ZNF681-
-
-
-
1Loss-
ZNF684-
-
-
-
3Gain-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF69-
-
-
-
3Gain-
ZNF691-
-
-
-
3Gain-
ZNF692-
-
-
-
5Amp-
ZNF695-
-
-
-
5Amp-
ZNF697-
-
-
-
1Loss-
ZNF699-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF700-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
6Amp-
ZNF706-
-
-
-
3Gain-
ZNF71-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF720-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
1Loss-
ZNF732p.E394V
Missense
SNP
0.273
2--
ZNF74p.G282C
Missense
SNP
0.464
3Gain-
ZNF740-
-
-
-
3Gain-
ZNF747-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF750-
-
-
-
3Gain-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
3Gain-
ZNF764-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766p.R165W
Missense
SNP
1.000
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF778-
-
-
-
1Loss-
ZNF780A-
-
-
-
1Loss-
ZNF780B-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF782-
-
-
-
3Gain-
ZNF784-
-
-
-
1Loss-
ZNF785-
-
-
-
1Loss-
ZNF787-
-
-
-
1Loss-
ZNF79-
-
-
-
3Gain-
ZNF790-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF804A-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF823-
-
-
-
3Gain-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF830-
-
-
-
3Gain-
ZNF831p.R1388K
Missense
SNP
0.529
3Gain-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF84-
-
-
-
3Gain-
ZNF841-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF844-
-
-
-
3Gain-
ZNF845-
-
-
-
1Loss-
ZNF846-
-
-
-
6Amp-
ZNF850-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
3Gain-
ZNF880-
-
-
-
1Loss-
ZNF883-
-
-
-
3Gain-
ZNF888-
-
-
-
1Loss-
ZNF891-
-
-
-
3Gain-
ZNF91-
-
-
-
1Loss-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNHIT2-
-
-
-
3Gain-
ZNHIT3-
-
-
-
3Gain-
ZNHIT6-
-
-
-
3Gain-
ZP1-
-
-
-
3Gain-
ZP2-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZPBP2p.T120I
Missense
SNP
0.435
3Gain-
ZPR1-
-
-
-
3Gain-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN12p.V407L
Missense
SNP
1.000
2--
ZSCAN18-
-
-
-
1Loss-
ZSCAN22-
-
-
-
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-
ZZEF1-
-
-
-
1Loss-