PDMR-BL0479~F1894~M23M205-P3

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A3GALT2-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AANAT-
-
-
-
3Gain-
AARSD1-
-
-
-
3Gain-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
7Amp-
AATF-
-
-
-
3Gain-
AATK-
-
-
-
1Loss-
ABCA1-
-
-
-
1Loss-
ABCA10-
-
-
-
3Gain-
ABCA2-
-
-
-
1Loss-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCC3-
-
-
-
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC8-
-
-
-
3Gain-
ABCG1-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD17B-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABI3-
-
-
-
3Gain-
ABL1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABO-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC002094.3-
-
-
-
3Gain-
AC002985.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004687.2-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005670.2-
-
-
-
3Gain-
AC005697.1-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC005779.2-
-
-
-
1Loss-
AC005837.2-
-
-
-
3Gain-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007192.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008537.1-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008687.1-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC008982.1-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010325.1-
-
-
-
1Loss-
AC010326.2-
-
-
-
1Loss-
AC010327.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011195.2-
-
-
-
3Gain-
AC011330.3-
-
-
-
3Gain-
AC011448.1-
-
-
-
1Loss-
AC011452.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC015688.4-
-
-
-
3Gain-
AC015802.6-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC018523.2-
-
-
-
3Gain-
AC018755.2-
-
-
-
1Loss-
AC020907.6-
-
-
-
1Loss-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC020922.1-
-
-
-
1Loss-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC037459.1-
-
-
-
3Gain-
AC046185.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068234.1-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC073508.2-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087289.3-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098484.3-
-
-
-
3Gain-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099811.2-
-
-
-
3Gain-
AC099850.2-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
3Gain-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
3Gain-
AC113348.2-
-
-
-
1Loss-
AC113554.1-
-
-
-
3Gain-
AC114490.2-
-
-
-
1Loss-
AC114490.3-
-
-
-
1Loss-
AC116366.3-
-
-
-
1Loss-
AC118553.2-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC129492.3-
-
-
-
1Loss-
AC134669.1-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC139530.2-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC243967.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACACA-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP3-
-
-
-
1Loss-
ACAT1-
-
-
-
7Amp-
ACBD4-
-
-
-
3Gain-
ACE-
-
-
-
3Gain-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACLY-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
3Gain-
ACOX1-
-
-
-
3Gain-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP7-
-
-
-
1Loss-
ACR-
-
-
-
0Del-
ACRV1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF2-
-
-
-
3Gain-
ACSL6-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTG1-
-
-
-
1Loss-
ACTL7A-
-
-
-
1Loss-
ACTL7B-
-
-
-
1Loss-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN4-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT1p.V38I
Missense
SNP
1.000
NDND-
ACTRT2-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADAM11-
-
-
-
3Gain-
ADAM18-
-
-
-
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
3Gain-
ADAM28-
-
-
-
3Gain-
ADAM32-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS13-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS5-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL2-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAP2-
-
-
-
3Gain-
ADARB1-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCY2-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADGRA2-
-
-
-
3Gain-
ADGRA3-
-
-
-
1Loss-
ADGRB2-
-
-
-
1Loss-
ADGRD2-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADM-
-
-
-
9Amp-
ADM2-
-
-
-
0Del-
ADM5-
-
-
-
1Loss-
ADNP-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
3Gain-
ADRM1-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AES-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFM-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AFP-
-
-
-
1Loss-
AGFG1-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGL-
-
-
-
3Gain-
AGMAT-
-
-
-
1Loss-
AGO1-
-
-
-
1Loss-
AGO3-
-
-
-
1Loss-
AGO4-
-
-
-
1Loss-
AGPAT2-
-
-
-
1Loss-
AGPAT3-
-
-
-
1Loss-
AGPAT5-
-
-
-
3Gain-
AGRN-
-
-
-
1Loss-
AGTPBP1-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AGXT2-
-
-
-
3Gain-
AHCYL1-
-
-
-
0Del-
AHDC1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHRR-
-
-
-
3Gain-
AIF1L-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AJAP1-
-
-
-
1Loss-
AJM1-
-
-
-
1Loss-
AK1-
-
-
-
1Loss-
AK2-
-
-
-
1Loss-
AK3-
-
-
-
3Gain-
AK4-
-
-
-
3Gain-
AK6-
-
-
-
1Loss-
AK8-
-
-
-
1Loss-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP2-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKIRIN1-
-
-
-
1Loss-
AKNA-
-
-
-
1Loss-
AKR1A1-
-
-
-
3Gain-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AKT1S1-
-
-
-
1Loss-
AKT2-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL109811.4-
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1Loss-
AL121845.2-
-
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-
3Gain-
AL121845.3-
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3Gain-
AL133410.3-
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3Gain-
AL138752.2-
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1Loss-
AL157935.2-
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1Loss-
AL160269.1-
-
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1Loss-
AL160272.2-
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1Loss-
AL162231.1-
-
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3Gain-
AL162231.3-
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3Gain-
AL162377.3-
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-
1Loss-
AL162417.1-
-
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-
1Loss-
AL355987.1-
-
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1Loss-
AL355987.3-
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-
1Loss-
AL357673.1-
-
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3Gain-
AL358075.4-
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-
3Gain-
AL358113.1-
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-
-
1Loss-
AL359736.1-
-
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-
1Loss-
AL359922.1-
-
-
-
0Del-
AL445238.1-
-
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-
1Loss-
AL445685.3-
-
-
-
4Gain-
AL445989.1-
-
-
-
1Loss-
AL451062.3-
-
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-
3Gain-
AL512506.3-
-
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-
1Loss-
AL513165.2-
-
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-
1Loss-
AL592490.1-
-
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-
1Loss-
AL672043.1-
-
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-
3Gain-
AL672142.1-
-
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-
1Loss-
AL807752.6-
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-
1Loss-
AL807752.7-
-
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-
1Loss-
AL928654.3-
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1Loss-
AL929554.1-
-
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1Loss-
ALAD-
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1Loss-
ALAS1-
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1Loss-
ALB-
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1Loss-
ALDH16A1-
-
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1Loss-
ALDH1A1-
-
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1Loss-
ALDH1B1-
-
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1Loss-
ALDH3A1-
-
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1Loss-
ALDH3A2-
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1Loss-
ALDH4A1-
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1Loss-
ALDH7A1-
-
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1Loss-
ALDOB-
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1Loss-
ALDOC-
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3Gain-
ALG11-
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1Loss-
ALG2-
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1Loss-
ALG5-
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1Loss-
ALG6-
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3Gain-
ALG9-
-
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1Loss-
ALKBH5-
-
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1Loss-
ALKBH6-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALKBH8-
-
-
-
7Amp-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
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-
1Loss-
ALOX5AP-
-
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1Loss-
ALOXE3-
-
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-
1Loss-
ALPL-
-
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-
1Loss-
ALS2CL-
-
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-
1Loss-
ALX3-
-
-
-
0Del-
ALYREF-
-
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-
1Loss-
AMACR-
-
-
-
3Gain-
AMBN-
-
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-
1Loss-
AMBP-
-
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-
1Loss-
AMER2-
-
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-
1Loss-
AMH-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMOTL1-
-
-
-
5Amp-
AMPD3-
-
-
-
9Amp-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
AMY2A-
-
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-
3Gain-
AMY2B-
-
-
-
3Gain-
AMZ1-
-
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-
3Gain-
AMZ2-
-
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-
3Gain-
ANAPC11-
-
-
-
1Loss-
ANAPC2-
-
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-
1Loss-
ANAPC4-
-
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-
1Loss-
ANGPT2-
-
-
-
3Gain-
ANGPTL2-
-
-
-
1Loss-
ANGPTL3-
-
-
-
3Gain-
ANGPTL4-
-
-
-
1Loss-
ANGPTL5-
-
-
-
31Amp-
ANGPTL6-
-
-
-
1Loss-
ANGPTL7-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANK1-
-
-
-
3Gain-
ANKDD1B-
-
-
-
1Loss-
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
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-
1Loss-
ANKK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD13B-
-
-
-
3Gain-
ANKRD17-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
3Gain-
ANKRD20A2-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD27-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD40-
-
-
-
3Gain-
ANKRD40CL-
-
-
-
3Gain-
ANKRD42-
-
-
-
5Amp-
ANKRD49-
-
-
-
5Amp-
ANKRD55-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD65-
-
-
-
1Loss-
ANKS6-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO5-
-
-
-
10Amp-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32B-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANXA1-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
AOAH-
-
-
-
3Gain-
AOC2-
-
-
-
3Gain-
AOC3-
-
-
-
3Gain-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000646.1-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
5Amp-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP2A1-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2B1-
-
-
-
3Gain-
AP2S1-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M2-
-
-
-
3Gain-
AP3S1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APBA1-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APLP1-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APOH-
-
-
-
3Gain-
APP-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
AQP3-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP23-
-
-
-
3Gain-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP27-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP33-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP42-
-
-
-
5Amp-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGDIA-
-
-
-
1Loss-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10-
-
-
-
3Gain-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
3Gain-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL16-
-
-
-
1Loss-
ARL17A-
-
-
-
3Gain-
ARL17B-
-
-
-
3Gain-
ARL4D-
-
-
-
3Gain-
ARL5C-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC6-
-
-
-
1Loss-
ARMC7-
-
-
-
3Gain-
ARMH1-
-
-
-
3Gain-
ARNTL-
-
-
-
3Gain-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5L-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC1-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
0Del-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
ASAH1-
-
-
-
3Gain-
ASAP3-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB16-
-
-
-
3Gain-
ASB6-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
3Gain-
ASIC2-
-
-
-
3Gain-
ASNA1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPDH-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPN-
-
-
-
1Loss-
ASPSCR1-
-
-
-
1Loss-
ASS1-
-
-
-
1Loss-
ASTN2-
-
-
-
1Loss-
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATAD5-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATF5-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG4C-
-
-
-
3Gain-
ATG4D-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATM-
-
-
-
7Amp-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP12A-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP4A-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
1Loss-
ATP5MC1-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5PD-
-
-
-
3Gain-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
3Gain-
ATP6V0B-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATPAF1-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L3-
-
-
-
3Gain-
AUH-
-
-
-
1Loss-
AUNIP-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVL9-
-
-
-
3Gain-
AXIN2-
-
-
-
3Gain-
AXL-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN2-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B3GALT5-
-
-
-
1Loss-
B3GALT6-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B3GNTL1-
-
-
-
1Loss-
B4GALNT2-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
3Gain-
B4GALT2-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GALT7-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
B9D2-
-
-
-
1Loss-
BAAT-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAG1-
-
-
-
3Gain-
BAG4-
-
-
-
3Gain-
BAHCC1-
-
-
-
1Loss-
BAIAP2-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARHL1-
-
-
-
1Loss-
BARX1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
5Amp-
BAX-
-
-
-
1Loss-
BBC3-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAM-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS3-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCAT2-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCL2L12-
-
-
-
1Loss-
BCL2L13p.E462K
Missense
SNP
0.681
2--
BCL3-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BECN1-
-
-
-
3Gain-
BEND4-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BEST4-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BHMG1-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICD2-
-
-
-
1Loss-
BICRA-
-
-
-
1Loss-
BIN3-
-
-
-
3Gain-
BIRC2-
-
-
-
31Amp-
BIRC3-
-
-
-
31Amp-
BIRC5-
-
-
-
3Gain-
BIRC7-
-
-
-
3Gain-
BIRC8-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLK-
-
-
-
3Gain-
BLMH-
-
-
-
3Gain-
BLOC1S3-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BLVRB-
-
-
-
1Loss-
BMP1-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMP8A-
-
-
-
1Loss-
BMP8B-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BNC2-
-
-
-
3Gain-
BNIP1-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPTF-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRCA1-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRD3-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
3Gain-
BRINP1-
-
-
-
1Loss-
BRIP1-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRSK1-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSDC1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPH1-
-
-
-
1Loss-
BSPRY-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTAF1p.E277Q
Missense
SNP
0.833
2--
BTBD10-
-
-
-
3Gain-
BTBD17-
-
-
-
3Gain-
BTBD19-
-
-
-
3Gain-
BTBD2-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTF3L4-
-
-
-
4Gain-
BTG3-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
5Amp-
C11orf58-
-
-
-
3Gain-
C11orf65-
-
-
-
7Amp-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
7Amp-
C11orf88-
-
-
-
1Loss-
C11orf97-
-
-
-
5Amp-
C12orf43p.A239T
Missense
SNP
0.293
2--
C14orf180-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
3Gain-
C17orf51-
-
-
-
1Loss-
C17orf53-
-
-
-
3Gain-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf75-
-
-
-
3Gain-
C17orf78-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf47-
-
-
-
1Loss-
C19orf48-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf109-
-
-
-
1Loss-
C1orf122-
-
-
-
1Loss-
C1orf123-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf210-
-
-
-
3Gain-
C1orf216-
-
-
-
1Loss-
C1orf50-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1orf94-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL1-
-
-
-
3Gain-
C1QTNF1-
-
-
-
3Gain-
C1QTNF12-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF5-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C20orf204-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD5p.R578T
Missense
SNP
0.382
2--
C3-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4BPAp.T93M
Missense
SNP
0.703
2--
C4orf19-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C5-
-
-
-
1Loss-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C8G-
-
-
-
1Loss-
C8orf34-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf74-
-
-
-
5Amp-
C8orf86-
-
-
-
3Gain-
C9-
-
-
-
3Gain-
C9orf116-
-
-
-
1Loss-
C9orf129-
-
-
-
1Loss-
C9orf131-
-
-
-
3Gain-
C9orf135-
-
-
-
1Loss-
C9orf152-
-
-
-
1Loss-
C9orf153-
-
-
-
1Loss-
C9orf16-
-
-
-
1Loss-
C9orf24-
-
-
-
3Gain-
C9orf3-
-
-
-
1Loss-
C9orf40-
-
-
-
1Loss-
C9orf43-
-
-
-
1Loss-
C9orf50-
-
-
-
1Loss-
C9orf57-
-
-
-
1Loss-
C9orf64p.Q244E
Missense
SNP
1.000
1Loss-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
1Loss-
C9orf84-
-
-
-
1Loss-
C9orf85-
-
-
-
1Loss-
C9orf92-
-
-
-
3Gain-
CA10-
-
-
-
3Gain-
CA11-
-
-
-
1Loss-
CA4-
-
-
-
3Gain-
CA6-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP5-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CACFD1-
-
-
-
1Loss-
CACHD1-
-
-
-
3Gain-
CACNA1Ap.T423I
Missense
SNP
1.000
1Loss-
CACNA1B-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1G-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB1-
-
-
-
3Gain-
CACNG1-
-
-
-
3Gain-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CADM4-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALCA-
-
-
-
3Gain-
CALCB-
-
-
-
3Gain-
CALCOCO2-
-
-
-
3Gain-
CALM3-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2N1-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP1-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CANT1-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAP1-
-
-
-
1Loss-
CAPN12-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPNS1-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZB-
-
-
-
1Loss-
CARD11p.V692L
Missense
SNP
0.232
3Gain-
CARD14-
-
-
-
1Loss-
CARD16-
-
-
-
7Amp-
CARD17-
-
-
-
7Amp-
CARD18-
-
-
-
7Amp-
CARD19-
-
-
-
1Loss-
CARD6-
-
-
-
3Gain-
CARD8-
-
-
-
1Loss-
CARD9-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARNMT1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC3-
-
-
-
3Gain-
CASKIN2-
-
-
-
3Gain-
CASP1-
-
-
-
7Amp-
CASP12-
-
-
-
7Amp-
CASP14-
-
-
-
1Loss-
CASP4-
-
-
-
7Amp-
CASP5-
-
-
-
7Amp-
CASP8p.S270F
Missense
SNP
0.344
2--
CASP9-
-
-
-
1Loss-
CASS4-
-
-
-
3Gain-
CASZ1-
-
-
-
1Loss-
CATSPER2-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERG-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN1-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLBp.R198T
Missense
SNP
0.654
2--
CBLC-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
3Gain-
CBX1-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBX4-
-
-
-
3Gain-
CBX6-
-
-
-
1Loss-
CBX8-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CC2D1B-
-
-
-
3Gain-
CC2D2A-
-
-
-
1Loss-
CCAR2-
-
-
-
3Gain-
CCDC103-
-
-
-
3Gain-
CCDC105-
-
-
-
1Loss-
CCDC106-
-
-
-
1Loss-
CCDC107-
-
-
-
3Gain-
CCDC112-
-
-
-
1Loss-
CCDC114-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC137-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC152-
-
-
-
3Gain-
CCDC153-
-
-
-
1Loss-
CCDC155-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC163-
-
-
-
3Gain-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC17-
-
-
-
3Gain-
CCDC171-
-
-
-
3Gain-
CCDC174-
-
-
-
1Loss-
CCDC179-
-
-
-
10Amp-
CCDC180-
-
-
-
1Loss-
CCDC182-
-
-
-
3Gain-
CCDC183-
-
-
-
1Loss-
CCDC194-
-
-
-
1Loss-
CCDC24-
-
-
-
3Gain-
CCDC27-
-
-
-
1Loss-
CCDC28B-
-
-
-
1Loss-
CCDC30-
-
-
-
3Gain-
CCDC36-
-
-
-
1Loss-
CCDC40-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC43-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC57-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC81-
-
-
-
5Amp-
CCDC82-
-
-
-
5Amp-
CCDC83-
-
-
-
5Amp-
CCDC84-
-
-
-
1Loss-
CCDC89-
-
-
-
5Amp-
CCDC9-
-
-
-
1Loss-
CCDC90B-
-
-
-
5Amp-
CCDC96-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCER2-
-
-
-
1Loss-
CCHCR1p.E287K
Missense
SNP
0.326
2--
CCIN-
-
-
-
3Gain-
CCK-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL1-
-
-
-
3Gain-
CCL11-
-
-
-
3Gain-
CCL13-
-
-
-
3Gain-
CCL14-
-
-
-
3Gain-
CCL15-
-
-
-
3Gain-
CCL15-CCL14-
-
-
-
3Gain-
CCL16-
-
-
-
3Gain-
CCL18-
-
-
-
3Gain-
CCL19-
-
-
-
3Gain-
CCL2-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL23-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCL27-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
3Gain-
CCL3L1-
-
-
-
3Gain-
CCL4-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCL5-
-
-
-
3Gain-
CCL7-
-
-
-
3Gain-
CCL8-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNA1-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNL2-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR10-
-
-
-
3Gain-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT5-
-
-
-
3Gain-
CCT6B-
-
-
-
3Gain-
CCT8-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD209-
-
-
-
1Loss-
CD22-
-
-
-
1Loss-
CD274-
-
-
-
3Gain-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LG-
-
-
-
3Gain-
CD320-
-
-
-
1Loss-
CD33-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3EAP-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD53-
-
-
-
0Del-
CD68-
-
-
-
1Loss-
CD7-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD79A-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC14A-
-
-
-
3Gain-
CDC14Bp.L434F
Missense
SNP
1.000
1Loss-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
3Gain-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC26-
-
-
-
1Loss-
CDC27-
-
-
-
3Gain-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
3Gain-
CDC42-
-
-
-
1Loss-
CDC42EP4-
-
-
-
3Gain-
CDC42EP5-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC6-
-
-
-
3Gain-
CDCA2-
-
-
-
3Gain-
CDCA4-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDCA8-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
3Gain-
CDH10-
-
-
-
5Amp-
CDH12-
-
-
-
5Amp-
CDH18-
-
-
-
5Amp-
CDH22-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH6-
-
-
-
5Amp-
CDH9-
-
-
-
5Amp-
CDHR2-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK12-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK20-
-
-
-
1Loss-
CDK3-
-
-
-
3Gain-
CDK5R1-
-
-
-
3Gain-
CDK5RAP2-
-
-
-
1Loss-
CDK5RAP3-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDK9-
-
-
-
1Loss-
CDKL2-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
0Del-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
0Del-
CDKN2D-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5-
-
-
-
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPB-
-
-
-
3Gain-
CEBPG-
-
-
-
1Loss-
CEL-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP2-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPP-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPX-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP112-
-
-
-
3Gain-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
31Amp-
CEP131-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP295-
-
-
-
5Amp-
CEP295NL-
-
-
-
3Gain-
CEP57-
-
-
-
5Amp-
CEP72-
-
-
-
3Gain-
CEP78-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CEP95p.S147Y
Missense
SNP
0.237
3Gain-
CER1-
-
-
-
3Gain-
CERCAM-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP157-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
31Amp-
CFAP410-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP57-
-
-
-
3Gain-
CFAP74-
-
-
-
1Loss-
CFAP77-
-
-
-
1Loss-
CFAP97D1-
-
-
-
3Gain-
CFAP99-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CGB1-
-
-
-
1Loss-
CGB2-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHAD-
-
-
-
3Gain-
CHAF1A-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHDH-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKB-
-
-
-
0Del-
CHKB-CPT1B-
-
-
-
0Del-
CHL1-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP5-
-
-
-
3Gain-
CHMP6-
-
-
-
1Loss-
CHMP7-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHODL-
-
-
-
1Loss-
CHORDC1-
-
-
-
5Amp-
CHRNA10-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA6-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB3-
-
-
-
3Gain-
CHRNE-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST8-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CIB1p.E129Q
Missense
SNP
0.745
2--
CIB3-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD3-
-
-
-
3Gain-
CISH-
-
-
-
1Loss-
CITED4-
-
-
-
1Loss-
CIZ1-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKMT2-
-
-
-
1Loss-
CKS2-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
6Amp-
CLDN10-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN16-
-
-
-
6Amp-
CLDN17-
-
-
-
1Loss-
CLDN19-
-
-
-
3Gain-
CLDN23-
-
-
-
3Gain-
CLDN25-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLDND2-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLIC3-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP3-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN8-
-
-
-
3Gain-
CLNK-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLPTM1L-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLSPN-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLTA-
-
-
-
3Gain-
CLTB-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
1Loss-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNKSR1-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT3-
-
-
-
1Loss-
CNOT6-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT7-
-
-
-
3Gain-
CNOT8-
-
-
-
1Loss-
CNP-
-
-
-
3Gain-
CNR2-
-
-
-
1Loss-
CNTD1-
-
-
-
3Gain-
CNTD2-
-
-
-
1Loss-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
5Amp-
CNTN6-
-
-
-
1Loss-
CNTNAP1-
-
-
-
3Gain-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
CNTRL-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA3-
-
-
-
3Gain-
COA7-
-
-
-
3Gain-
COASY-
-
-
-
3Gain-
COG1-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL11A1-
-
-
-
3Gain-
COL15A1-
-
-
-
1Loss-
COL16A1-
-
-
-
1Loss-
COL18A1-
-
-
-
1Loss-
COL1A1-
-
-
-
3Gain-
COL20A1-
-
-
-
3Gain-
COL23A1-
-
-
-
1Loss-
COL24A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL3A1-
-
-
-
3Gain-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL4A3-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
3Gain-
COL5A1-
-
-
-
1Loss-
COL5A2-
-
-
-
3Gain-
COL5A3-
-
-
-
1Loss-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COL8A2-
-
-
-
1Loss-
COL9A2-
-
-
-
1Loss-
COL9A3-
-
-
-
3Gain-
COLCA2-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD6-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COPB1-
-
-
-
3Gain-
COPE-
-
-
-
1Loss-
COPRS-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPZ2-
-
-
-
3Gain-
COQ2-
-
-
-
1Loss-
COQ4-
-
-
-
1Loss-
COQ8B-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO2A-
-
-
-
1Loss-
CORO6-
-
-
-
3Gain-
CORT-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX11-
-
-
-
3Gain-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX6B1-
-
-
-
1Loss-
COX6B2-
-
-
-
1Loss-
COX7A1-
-
-
-
1Loss-
COX7B2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
CPA6-
-
-
-
3Gain-
CPAMD8-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPD-
-
-
-
3Gain-
CPEB2-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPLANE1-
-
-
-
3Gain-
CPLANE2-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPSF4L-
-
-
-
3Gain-
CPT1B-
-
-
-
0Del-
CPT1C-
-
-
-
1Loss-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRAT-
-
-
-
1Loss-
CRB2-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CREB3-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB5-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CREBZF-
-
-
-
5Amp-
CRELD1-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRHR1-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRISPLD1-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRLF3-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CROCC-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRX-
-
-
-
1Loss-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBA1-
-
-
-
3Gain-
CRYBG2-
-
-
-
1Loss-
CRYL1-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
0Del-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF3-
-
-
-
3Gain-
CSF3R-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
3Gain-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSMD1-
-
-
-
3Gain-
CSMD2-
-
-
-
1Loss-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1D-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A3-
-
-
-
9Amp-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CSRP3-
-
-
-
3Gain-
CSTB-
-
-
-
1Loss-
CSTF1-
-
-
-
3Gain-
CTBP1-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNAL1-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTPS1-
-
-
-
1Loss-
CTR9-
-
-
-
9Amp-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
3Gain-
CTSC-
-
-
-
5Amp-
CTSD-
-
-
-
1Loss-
CTSL-
-
-
-
1Loss-
CTSV-
-
-
-
1Loss-
CTSZ-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUEDC1-
-
-
-
3Gain-
CUL4A-
-
-
-
1Loss-
CUL5-
-
-
-
7Amp-
CWC15-
-
-
-
5Amp-
CWC25-
-
-
-
3Gain-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
7Amp-
CWH43-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561-
-
-
-
3Gain-
CYB561D2-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5RL-
-
-
-
3Gain-
CYBC1-
-
-
-
1Loss-
CYCS-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYLC2-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2J2-
-
-
-
3Gain-
CYP2R1-
-
-
-
3Gain-
CYP2S1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1-
-
-
-
3Gain-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSRT1-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTH1-
-
-
-
3Gain-
CYTH2-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DAB2-
-
-
-
3Gain-
DAB2IP-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
3Gain-
DAPK1-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBF4B-
-
-
-
3Gain-
DBH-
-
-
-
1Loss-
DBN1-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBP-
-
-
-
1Loss-
DBT-
-
-
-
3Gain-
DBX1-
-
-
-
3Gain-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF12-
-
-
-
3Gain-
DCAF15-
-
-
-
1Loss-
DCAF16-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF7-
-
-
-
3Gain-
DCAKD-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCDC2B-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCT-
-
-
-
1Loss-
DCTN3-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCUN1D2-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
24AmpDCUN1D5--MMP3
DCXR-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDHD2-
-
-
-
3Gain-
DDI1-
-
-
-
24Amp-
DDI2-
-
-
-
1Loss-
DDIAS-
-
-
-
5Amp-
DDOST-
-
-
-
1Loss-
DDX10-
-
-
-
7Amp-
DDX25-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX31-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX42-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX5-
-
-
-
3Gain-
DDX52-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEC1-
-
-
-
1Loss-
DEDD2-
-
-
-
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-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND1A-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND4C-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
0Del-
DEPDC1B-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DEUP1-
-
-
-
5Amp-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS11-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS13-
-
-
-
3Gain-
DHRS3-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX34-
-
-
-
1Loss-
DHX40-
-
-
-
3Gain-
DHX58-
-
-
-
3Gain-
DHX8-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIMT1-
-
-
-
1Loss-
DIO1-
-
-
-
3Gain-
DIP2A-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS2-
-
-
-
1Loss-
DIRC1-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DKK3-
-
-
-
9Amp-
DKK4-
-
-
-
3Gain-
DKKL1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG2-
-
-
-
5Amp-
DLG4-
-
-
-
1Loss-
DLGAP2-
-
-
-
3Gain-
DLGAP3-
-
-
-
1Loss-
DLL3-
-
-
-
1Loss-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DMAC1-
-
-
-
3Gain-
DMAC2-
-
-
-
1Loss-
DMAP1-
-
-
-
3Gain-
DMBX1-
-
-
-
3Gain-
DMGDH-
-
-
-
1Loss-
DMKN-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
0Del-
DMRTB1-
-
-
-
3Gain-
DMRTC2-
-
-
-
1Loss-
DMTN-
-
-
-
3Gain-
DMWD-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNAAF3-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH11-
-
-
-
3Gain-
DNAH12-
-
-
-
1Loss-
DNAH17-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJB1-
-
-
-
1Loss-
DNAJB5-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC21-
-
-
-
3Gain-
DNAJC25-
-
-
-
1Loss-
DNAJC25-GNG10-
-
-
-
1Loss-
DNAJC28-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC6-
-
-
-
3Gain-
DNAJC7-
-
-
-
3Gain-
DNAJC8-
-
-
-
1Loss-
DNALI1-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNLZ-
-
-
-
1Loss-
DNM1-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNMT3L-
-
-
-
1Loss-
DNTTIP1-
-
-
-
3Gain-
DOC2B-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
3Gain-
DOCK6-
-
-
-
1Loss-
DOCK7-
-
-
-
3Gain-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
3Gain-
DOK3-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DOLK-
-
-
-
1Loss-
DOLPP1-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
3Gain-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
3Gain-
DPH7-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPM2-
-
-
-
1Loss-
DPP7-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPY19L1-
-
-
-
3Gain-
DPY19L3-
-
-
-
1Loss-
DPYD-
-
-
-
3Gain-
DPYSL3-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DROSHA-
-
-
-
5Amp-
DSCAM-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSPP-
-
-
-
1Loss-
DTHD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DUS1L-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP14-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP3-
-
-
-
3Gain-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
24AmpDYNC2H1--PDGFD
DYNLL2-
-
-
-
3Gain-
DYRK1A-
-
-
-
1Loss-
DYRK1B-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
E2F2-
-
-
-
1Loss-
E2F8-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
3Gain-
EBPL-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECH1-
-
-
-
1Loss-
ECHDC1p.N138Y
Missense
SNP
0.358
2--
ECHDC2-
-
-
-
3Gain-
ECM2-
-
-
-
1Loss-
ECPAS-
-
-
-
1Loss-
ECSCR-
-
-
-
1Loss-
ECSIT-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDF1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDN2-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDNRB-
-
-
-
1Loss-
EED-
-
-
-
5Amp-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB13-
-
-
-
3Gain-
EFCAB14-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB5-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFHB-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFTUD2-
-
-
-
3Gain-
EGFL7-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGLN2-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
3Gain-
EHD2-
-
-
-
1Loss-
EHMT1-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID2-
-
-
-
1Loss-
EID2B-
-
-
-
1Loss-
EIF1-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2B3-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3I-
-
-
-
1Loss-
EIF3K-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A3-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
1Loss-
EIF4G2-
-
-
-
9Amp-
EIF4G3-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
0Del-
ELAVL3-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELL-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELMOD1-
-
-
-
7Amp-
ELOA-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL1-
-
-
-
3Gain-
ELOVL7-
-
-
-
1Loss-
ELP1-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
ELSPBP1-
-
-
-
1Loss-
EMB-
-
-
-
3Gain-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EME1-
-
-
-
3Gain-
EMILIN3-
-
-
-
3Gain-
EML2-
-
-
-
1Loss-
EML3p.E237Q
p.E188K
Missense
Missense
SNP
SNP
0.382
0.450
2--
EMP3-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
5Amp-
ENDOG-
-
-
-
1Loss-
ENDOV-
-
-
-
1Loss-
ENG-
-
-
-
1Loss-
ENGASE-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENO1-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP7-
-
-
-
3Gain-
ENTPD2-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
3Gain-
ENTPD8-
-
-
-
1Loss-
ENTR1-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPB41-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L4B-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPGN-
-
-
-
1Loss-
EPHA10-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPN3-
-
-
-
3Gain-
EPOP-
-
-
-
3Gain-
EPOR-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPS15-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EPX-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERAL1-
-
-
-
3Gain-
ERBB2-
-
-
-
3Gain-
ERBIN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC6L2-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERF-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERI1-
-
-
-
3Gain-
ERI3-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH4-
-
-
-
1Loss-
ERICH6B-
-
-
-
1Loss-
ERLIN2-
-
-
-
3Gain-
ERMAP-
-
-
-
3Gain-
ERMP1-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERP44-
-
-
-
1Loss-
ERRFI1-
-
-
-
1Loss-
ERVMER34-1-
-
-
-
1Loss-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ETF1-
-
-
-
1Loss-
ETFB-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETS2-
-
-
-
1Loss-
ETV2-
-
-
-
1Loss-
ETV4-
-
-
-
3Gain-
EVA1B-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVI5L-
-
-
-
1Loss-
EVPL-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXD3-
-
-
-
1Loss-
EXO5-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
3Gain-
EXOC3L2-
-
-
-
1Loss-
EXOC7-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC2-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC5-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXPH5-
-
-
-
7Amp-
EXTL1-
-
-
-
1Loss-
EXTL2-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
1Loss-
EZH1-
-
-
-
3Gain-
F10-
-
-
-
1Loss-
F12-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
F7-
-
-
-
1Loss-
FAAH-
-
-
-
3Gain-
FAAP100-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP3-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FADS6-
-
-
-
3Gain-
FAF2-
-
-
-
1Loss-
FAM102A-
-
-
-
1Loss-
FAM104A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM110D-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117A-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM120A-
-
-
-
1Loss-
FAM120AOS-
-
-
-
1Loss-
FAM122A-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM129B-
-
-
-
1Loss-
FAM129C-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B2-
-
-
-
3Gain-
FAM163B-
-
-
-
1Loss-
FAM166A-
-
-
-
1Loss-
FAM166B-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM167B-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM171A2-
-
-
-
3Gain-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM181B-
-
-
-
5Amp-
FAM183A-
-
-
-
3Gain-
FAM184B-
-
-
-
1Loss-
FAM186Bp.R624Q
Missense
SNP
0.326
2--
FAM187A-
-
-
-
3Gain-
FAM187B-
-
-
-
1Loss-
FAM189A2-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM200B-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM206A-
-
-
-
1Loss-
FAM207A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214B-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
3Gain-
FAM222B-
-
-
-
3Gain-
FAM229A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69B-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71E1-
-
-
-
1Loss-
FAM71E2-
-
-
-
1Loss-
FAM76A-
-
-
-
1Loss-
FAM76B-
-
-
-
5Amp-
FAM78A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83E-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM95C-
-
-
-
1Loss-
FAM98C-
-
-
-
1Loss-
FANCC-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCF-
-
-
-
10Amp-
FANCG-
-
-
-
3Gain-
FAR1-
-
-
-
3Gain-
FARP1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FASN-
-
-
-
1Loss-
FASTKD3-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAT3-
-
-
-
5Amp-
FAXDC2-
-
-
-
1Loss-
FBF1-
-
-
-
3Gain-
FBL-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBP1-
-
-
-
1Loss-
FBP2-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
3Gain-
FBXL3-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXO10-
-
-
-
1Loss-
FBXO17-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO25-
-
-
-
3Gain-
FBXO27-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO42-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO46-
-
-
-
1Loss-
FBXO47-
-
-
-
3Gain-
FBXO6-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
1Loss-
FBXW5-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCAR-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCGBP-
-
-
-
1Loss-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FCN3-
-
-
-
1Loss-
FDCSP-
-
-
-
1Loss-
FDFT1-
-
-
-
3Gain-
FDX1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FDXR-
-
-
-
3Gain-
FEM1A-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FERD3Lp.K93N
Missense
SNP
0.575
3Gain-
FEZ1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FGD3-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF17-
-
-
-
3Gain-
FGF18-
-
-
-
1Loss-
FGF20-
-
-
-
3Gain-
FGF21-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1-
-
-
-
3Gain-
FGFR3-
-
-
-
1Loss-
FGFR4-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGL1-
-
-
-
3Gain-
FGR-
-
-
-
1Loss-
FHAD1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL3-
-
-
-
1Loss-
FIBCD1-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FIZ1-
-
-
-
1Loss-
FKBP10-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FKBP9-
-
-
-
3Gain-
FKRP-
-
-
-
1Loss-
FKTN-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLOT2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLT3LG-
-
-
-
1Loss-
FLT4-
-
-
-
1Loss-
FMNL1-
-
-
-
3Gain-
FN3K-
-
-
-
1Loss-
FN3KRP-
-
-
-
1Loss-
FNBP1-
-
-
-
1Loss-
FNDC10-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
1Loss-
FNDC5-
-
-
-
1Loss-
FNDC8-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTA-
-
-
-
3Gain-
FOCAD-
-
-
-
0Del-
FOSB-
-
-
-
1Loss-
FOXA3-
-
-
-
1Loss-
FOXB2-
-
-
-
1Loss-
FOXC1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD3-
-
-
-
3Gain-
FOXE1-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXJ3-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXK2-
-
-
-
1Loss-
FOXN1-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXO6-
-
-
-
3Gain-
FOXP1-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGS-
-
-
-
1Loss-
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
3Gain-
FREM2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRRS1-
-
-
-
3Gain-
FRRS1L-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSCN2-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSD1L-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUBP3-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FUT1-
-
-
-
1Loss-
FUT10-
-
-
-
3Gain-
FUT2-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT4-
-
-
-
5Amp-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT7-
-
-
-
1Loss-
FUZ-
-
-
-
1Loss-
FXN-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD3-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FXYD7-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FZD2-
-
-
-
3Gain-
FZD4-
-
-
-
5Amp-
FZR1-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
G6PC-
-
-
-
3Gain-
G6PC3-
-
-
-
3Gain-
GAA-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABBR2-
-
-
-
1Loss-
GABPA-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRD-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45G-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK1-
-
-
-
3Gain-
GALNT10-
-
-
-
1Loss-
GALNT12-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT18-
-
-
-
9Amp-
GALP-
-
-
-
1Loss-
GALR2-
-
-
-
3Gain-
GALT-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GAPDHS-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAPVD1-
-
-
-
1Loss-
GARNL3-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GART-
-
-
-
1Loss-
GAS1-
-
-
-
1Loss-
GAS2-
-
-
-
10Amp-
GAS2L2-
-
-
-
3Gain-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GAST-
-
-
-
3Gain-
GATA4-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATAD2A-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBA2-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GBP2p.K212N
Missense
SNP
0.372
2--
GC-
-
-
-
1Loss-
GCDH-
-
-
-
1Loss-
GCGR-
-
-
-
1Loss-
GCK-
-
-
-
3Gain-
GCNT1-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
3Gain-
GDA-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPD1-
-
-
-
3Gain-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFAP-
-
-
-
3Gain-
GFI1B-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFRA2-
-
-
-
3Gain-
GFRA3-
-
-
-
1Loss-
GFY-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGN-
-
-
-
1Loss-
GGNBP2-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHDC-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GIP-
-
-
-
3Gain-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GIT1-
-
-
-
3Gain-
GJA3-
-
-
-
1Loss-
GJA4-
-
-
-
1Loss-
GJA9-
-
-
-
1Loss-
GJA9-MYCBP-
-
-
-
1Loss-
GJB2-
-
-
-
1Loss-
GJB3-
-
-
-
1Loss-
GJB4-
-
-
-
1Loss-
GJB5-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GJC1-
-
-
-
3Gain-
GJD3-
-
-
-
3Gain-
GK2-
-
-
-
1Loss-
GKAP1-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
5Amp-
GLDC-
-
-
-
3Gain-
GLE1-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLIPR2-
-
-
-
3Gain-
GLIS1-
-
-
-
3Gain-
GLIS3-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLT6D1-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMNC-
-
-
-
6Amp-
GMPPB-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA13-
-
-
-
3Gain-
GNA14-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAQ-
-
-
-
1Loss-
GNAS-
-
-
-
3Gain-
GNAT1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNB1-
-
-
-
1Loss-
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNGT2-
-
-
-
3Gain-
GNL2-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNRH1-
-
-
-
3Gain-
GNRHR-
-
-
-
1Loss-
GOLGA1-
-
-
-
1Loss-
GOLGA2-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA7-
-
-
-
3Gain-
GOLM1-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOSR1-
-
-
-
3Gain-
GOSR2-
-
-
-
3Gain-
GOT1L1-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP6-
-
-
-
1Loss-
GPALPP1-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPAT4-
-
-
-
3Gain-
GPATCH1-
-
-
-
1Loss-
GPATCH3-
-
-
-
4Gain-
GPATCH8-
-
-
-
3Gain-
GPBP1-
-
-
-
1Loss-
GPBP1L1-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPI-
-
-
-
1Loss-
GPN2-
-
-
-
4Gain-
GPNMB-
-
-
-
3Gain-
GPR107-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR12-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR141-
-
-
-
3Gain-
GPR142-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR179-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR21-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR32-
-
-
-
1Loss-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
5Amp-
GPR88-
-
-
-
3Gain-
GPRC5C-
-
-
-
3Gain-
GPRIN1-
-
-
-
1Loss-
GPS1-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM1-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX7-
-
-
-
3Gain-
GPX8-
-
-
-
1Loss-
GRAMD1A-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB2-
-
-
-
3Gain-
GRB7-
-
-
-
3Gain-
GRHL3-
-
-
-
1Loss-
GRHPR-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA4-
-
-
-
7Amp-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1-
-
-
-
1Loss-
GRIK3-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIK5-
-
-
-
1Loss-
GRIN1-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRIN2D-
-
-
-
1Loss-
GRIN3A-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM5-
-
-
-
5Amp-
GRM6-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRN-
-
-
-
3Gain-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GRWD1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSDMA-
-
-
-
3Gain-
GSDMB-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSN-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H1-
-
-
-
3Gain-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C4-
-
-
-
1Loss-
GTF3C5-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCY1A2-
-
-
-
7Amp-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2AFX-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
H6PD-
-
-
-
1Loss-
HABP4-
-
-
-
1Loss-
HACD4-
-
-
-
0Del-
HACL1-
-
-
-
1Loss-
HAMP-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO2p.R35G
Missense
SNP
0.215
2--
HAP1-
-
-
-
3Gain-
HAPLN1-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS5-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HAUS8-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCRT-
-
-
-
3Gain-
HCRTR1-
-
-
-
1Loss-
HCST-
-
-
-
1Loss-
HDAC1-
-
-
-
1Loss-
HDAC10-
-
-
-
0Del-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC5-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDHD3-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HEATR9-
-
-
-
3Gain-
HECTD3-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HELZ2-
-
-
-
3Gain-
HEMGN-
-
-
-
1Loss-
HEMK1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
5Amp-
HEPN1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEXDC-
-
-
-
1Loss-
HEXIM1-
-
-
-
3Gain-
HEXIM2-
-
-
-
3Gain-
HEYL-
-
-
-
1Loss-
HGF-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGS-
-
-
-
1Loss-
HGSNAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HID1-
-
-
-
3Gain-
HIF3A-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HIGD1B-
-
-
-
3Gain-
HIGD2A-
-
-
-
1Loss-
HIKESHI-
-
-
-
5Amp-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
3Gain-
HIPK4-
-
-
-
1Loss-
HIVEP3-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLCS-
-
-
-
1Loss-
HLF-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCN2-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGB4-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGN1-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HNF1B-
-
-
-
3Gain-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPK-
-
-
-
1Loss-
HNRNPL-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HNRNPR-
-
-
-
1Loss-
HNRNPUL1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK1-
-
-
-
3Gain-
HOOK2-
-
-
-
1Loss-
HOOK3-
-
-
-
3Gain-
HOPX-
-
-
-
1Loss-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
3Gain-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HP1BP3-
-
-
-
1Loss-
HPCA-
-
-
-
1Loss-
HPCAL4-
-
-
-
1Loss-
HPDL-
-
-
-
3Gain-
HPN-
-
-
-
1Loss-
HPS5-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
3Gain-
HRAS-
-
-
-
1Loss-
HRC-
-
-
-
1Loss-
HRCT1-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD17B1-
-
-
-
3Gain-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B3-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSDL2-
-
-
-
1Loss-
HSF2BP-
-
-
-
1Loss-
HSF5-
-
-
-
3Gain-
HSH2D-
-
-
-
1Loss-
HSPA13-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA5-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPB6-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPB9-
-
-
-
3Gain-
HSPBP1-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HSPH1-
-
-
-
1Loss-
HTATIP2-
-
-
-
3Gain-
HTD2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTRA4-
-
-
-
3Gain-
HTT-
-
-
-
1Loss-
HUNK-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYI-
-
-
-
3Gain-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IARS-
-
-
-
1Loss-
ICA1-
-
-
-
5Amp-
ICAM1-
-
-
-
1Loss-
ICAM2-
-
-
-
3Gain-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICE1-
-
-
-
3Gain-
ICMT-
-
-
-
1Loss-
ICOSLG-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
IDNK-
-
-
-
1Loss-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IDUA-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IER5L-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI30-
-
-
-
1Loss-
IFI35-
-
-
-
3Gain-
IFI6-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
0Del-
IFNA10-
-
-
-
0Del-
IFNA13-
-
-
-
0Del-
IFNA14-
-
-
-
0Del-
IFNA16-
-
-
-
0Del-
IFNA17-
-
-
-
0Del-
IFNA2-
-
-
-
0Del-
IFNA21-
-
-
-
0Del-
IFNA4-
-
-
-
0Del-
IFNA5-
-
-
-
0Del-
IFNA6-
-
-
-
0Del-
IFNA7-
-
-
-
0Del-
IFNA8-
-
-
-
0Del-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNB1-
-
-
-
0Del-
IFNE-
-
-
-
0Del-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
3Gain-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
0Del-
IFRD2-
-
-
-
1Loss-
IFT20-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP1-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP4-
-
-
-
3Gain-
IGFBP7-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGLON5-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF22-
-
-
-
3Gain-
IGSF23-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBKB-
-
-
-
3Gain-
IKZF3-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL10RB-
-
-
-
1Loss-
IL11-
-
-
-
1Loss-
IL11RA-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL1RAP-
-
-
-
6Amp-
IL22RA1-
-
-
-
1Loss-
IL27RA-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
3Gain-
IL4-
-
-
-
1Loss-
IL4I1-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL7-
-
-
-
3Gain-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILF3-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INIP-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INPP5B-
-
-
-
1Loss-
INPP5E-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
3Gain-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSR-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
3Gain-
INTS11-
-
-
-
1Loss-
INTS2-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INVS-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO13-
-
-
-
3Gain-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPP-
-
-
-
3Gain-
IPPK-
-
-
-
1Loss-
IQCC-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS1-
-
-
-
3Gain-
IRS2-
-
-
-
1Loss-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISCA1-
-
-
-
1Loss-
ISG15-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISOC2-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA10p.R669Q
Missense
SNP
0.252
2--
ITGA2-
-
-
-
1Loss-
ITGA2B-
-
-
-
3Gain-
ITGA3-
-
-
-
3Gain-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGB3-
-
-
-
3Gain-
ITGB3BP-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITPKC-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPRID1-
-
-
-
3Gain-
ITSN1-
-
-
-
1Loss-
IZUMO1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
5Amp-
IZUMO2-
-
-
-
1Loss-
IZUMO3-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK1-
-
-
-
3Gain-
JAK2-
-
-
-
3Gain-
JAK3-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JCHAIN-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD6-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD2-
-
-
-
1Loss-
JPH2-
-
-
-
3Gain-
JPT1-
-
-
-
3Gain-
JRKL-
-
-
-
5Amp-
JSRP1-
-
-
-
1Loss-
JUN-
-
-
-
3Gain-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
JUP-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANK4-
-
-
-
3Gain-
KANSL1p.L210V
Missense
SNP
0.159
3Gain-
KAT2A-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT6A-
-
-
-
3Gain-
KAT7-
-
-
-
3Gain-
KATNAL1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD3-
-
-
-
7Amp-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA10-
-
-
-
0Del-
KCNA2-
-
-
-
0Del-
KCNA3-
-
-
-
0Del-
KCNA7-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNC1-
-
-
-
3Gain-
KCNC3-
-
-
-
1Loss-
KCNC4-
-
-
-
0Del-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNG1-
-
-
-
3Gain-
KCNH4-
-
-
-
3Gain-
KCNH6-
-
-
-
3Gain-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ11-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ14-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
1Loss-
KCNJ2-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK6-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNN1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ4-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNS1-
-
-
-
3Gain-
KCNT1-
-
-
-
1Loss-
KCNU1-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD15-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KCTD9-
-
-
-
3Gain-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
7Amp-
KDELR1-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDF1-
-
-
-
3Gain-
KDM1A-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM4Ap.E372*
Nonsense
SNP
0.532
3Gain-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
3Gain-
KDM4D-
-
-
-
5Amp-
KDM4E-
-
-
-
5Amp-
KDM4F-
-
-
-
5Amp-
KDM6B-
-
-
-
1Loss-
KDR-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KHDRBS1-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0100-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0319L-
-
-
-
1Loss-
KIAA0355-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1191-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1522-
-
-
-
1Loss-
KIAA1958-
-
-
-
1Loss-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF12-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF17-
-
-
-
1Loss-
KIF18B-
-
-
-
3Gain-
KIF19-
-
-
-
3Gain-
KIF1B-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF24-
-
-
-
3Gain-
KIF26A-
-
-
-
1Loss-
KIF27-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF2B-
-
-
-
3Gain-
KIF2C-
-
-
-
3Gain-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIR2DL1-
-
-
-
1Loss-
KIR2DL3-
-
-
-
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL2-
-
-
-
1Loss-
KIRREL3-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KIT-
-
-
-
1Loss-
KLp.Q586*
Nonsense
SNP
1.000
1Loss-
KLB-
-
-
-
1Loss-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF17-
-
-
-
3Gain-
KLF2-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF4-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF9-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
0Del-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL17-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
0Del-
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-
KMT2A-
-
-
-
1Loss-
KMT2B-
-
-
-
1Loss-
KMT5C-
-
-
-
1Loss-
KNCN-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA6-
-
-
-
1Loss-
KPNB1-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRT10-
-
-
-
3Gain-
KRT12-
-
-
-
3Gain-
KRT13-
-
-
-
3Gain-
KRT14-
-
-
-
3Gain-
KRT15-
-
-
-
3Gain-
KRT16-
-
-
-
3Gain-
KRT17-
-
-
-
3Gain-
KRT19-
-
-
-
3Gain-
KRT20-
-
-
-
3Gain-
KRT222-
-
-
-
3Gain-
KRT23-
-
-
-
3Gain-
KRT24-
-
-
-
3Gain-
KRT25-
-
-
-
3Gain-
KRT26-
-
-
-
3Gain-
KRT27-
-
-
-
3Gain-
KRT28-
-
-
-
3Gain-
KRT31-
-
-
-
3Gain-
KRT32-
-
-
-
3Gain-
KRT33A-
-
-
-
3Gain-
KRT33B-
-
-
-
3Gain-
KRT34-
-
-
-
3Gain-
KRT35-
-
-
-
3Gain-
KRT36-
-
-
-
3Gain-
KRT37-
-
-
-
3Gain-
KRT38-
-
-
-
3Gain-
KRT39-
-
-
-
3Gain-
KRT40-
-
-
-
3Gain-
KRT9-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11p.E163K
Missense
SNP
1.000
1Loss-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP12-1-
-
-
-
1Loss-
KRTAP12-2-
-
-
-
1Loss-
KRTAP12-3-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP16-1-
-
-
-
3Gain-
KRTAP17-1-
-
-
-
3Gain-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-6-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP20-4-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP21-3-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP29-1-
-
-
-
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-
KRTAP4-6-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP4-9-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-4-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-8-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KRTDAP-
-
-
-
1Loss-
KSR1-
-
-
-
3Gain-
KTI12-
-
-
-
4Gain-
KXD1-
-
-
-
1Loss-
KYAT1-
-
-
-
1Loss-
L1TD1-
-
-
-
3Gain-
L34079.1-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LACTB2-
-
-
-
3Gain-
LACTBL1-
-
-
-
1Loss-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMC3-
-
-
-
1Loss-
LAMP1-
-
-
-
1Loss-
LAMTOR5-
-
-
-
0Del-
LAP3-
-
-
-
1Loss-
LAPTM5-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
3Gain-
LATS2-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LCA5L-
-
-
-
1Loss-
LCK-
-
-
-
1Loss-
LCN1-
-
-
-
1Loss-
LCN10-
-
-
-
1Loss-
LCN12-
-
-
-
1Loss-
LCN15-
-
-
-
1Loss-
LCN2-
-
-
-
1Loss-
LCN6-
-
-
-
1Loss-
LCN8-
-
-
-
1Loss-
LCN9-
-
-
-
1Loss-
LCNL1-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDHA-
-
-
-
3Gain-
LDHAL6A-
-
-
-
3Gain-
LDHC-
-
-
-
3Gain-
LDLR-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LDLRAD2-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LETM1-
-
-
-
1Loss-
LETM2-
-
-
-
3Gain-
LEUTX-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS3BP-
-
-
-
3Gain-
LGALS4-
-
-
-
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGALS9-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
3Gain-
LGI4-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHX1-
-
-
-
3Gain-
LHX2-
-
-
-
1Loss-
LHX3-
-
-
-
1Loss-
LHX6-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIFR-
-
-
-
3Gain-
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-
LIMCH1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMD2-
-
-
-
3Gain-
LIME1-
-
-
-
3Gain-
LIN28A-
-
-
-
1Loss-
LIN37-
-
-
-
1Loss-
LIN54-
-
-
-
1Loss-
LIN7B-
-
-
-
1Loss-
LINC02210-CRHR1-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LINGO3-
-
-
-
1Loss-
LIPE-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLGL2-
-
-
-
3Gain-
LMAN2-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
0Del-
LMNB1-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMTK3-
-
-
-
1Loss-
LMX1B-
-
-
-
1Loss-
LNX1-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LONP1-
-
-
-
1Loss-
LONRF1-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXL2-
-
-
-
3Gain-
LPAR1-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
3Gain-
LPO-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRFN1-
-
-
-
1Loss-
LRFN3-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP1Bp.D2806N
Missense
SNP
0.598
2--
LRP3-
-
-
-
1Loss-
LRP8-
-
-
-
3Gain-
LRPAP1-
-
-
-
1Loss-
LRRC14B-
-
-
-
3Gain-
LRRC19-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC26-
-
-
-
1Loss-
LRRC3-
-
-
-
1Loss-
LRRC37A-
-
-
-
3Gain-
LRRC37A2-
-
-
-
3Gain-
LRRC37A3-
-
-
-
3Gain-
LRRC37B-
-
-
-
3Gain-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC45-
-
-
-
1Loss-
LRRC46-
-
-
-
3Gain-
LRRC47-
-
-
-
1Loss-
LRRC4B-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC59-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC66-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC8A-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRN1p.R364H
Missense
SNP
1.000
1Loss-
LRRTM2-
-
-
-
1Loss-
LRSAM1-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSM1-
-
-
-
3Gain-
LSM10-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM12-
-
-
-
3Gain-
LSM14A-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM7-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSR-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LTBP4-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LUC7L3-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LURAP1L-
-
-
-
3Gain-
LUZP1-
-
-
-
1Loss-
LUZP2-
-
-
-
6Amp-
LVRN-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LYL1-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPLA2-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYRM9-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYVE1-
-
-
-
9Amp-
LYZL4-
-
-
-
1Loss-
LYZL6-
-
-
-
3Gain-
LZIC-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACF1-
-
-
-
1Loss-
MACO1-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAD2L2-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAFB-
-
-
-
3Gain-
MAFG-
-
-
-
1Loss-
MAFK-
-
-
-
3Gain-
MAG-
-
-
-
1Loss-
MAGI1-
-
-
-
1Loss-
MAGOH-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MAMDC2-
-
-
-
1Loss-
MAMDC4-
-
-
-
1Loss-
MAML1-
-
-
-
1Loss-
MAML2-
-
-
-
5Amp-
MAMSTR-
-
-
-
1Loss-
MAN1B1-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MANEAL-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K6-
-
-
-
3Gain-
MAP2K7-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K10-
-
-
-
1Loss-
MAP3K14-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K6-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K1-
-
-
-
1Loss-
MAP7D1-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
0Del-
MAPK12-
-
-
-
0Del-
MAPK7-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
0Del-
MAPK9-
-
-
-
1Loss-
MAPKAP1-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPRE3p.F262L
Missense
SNP
0.300
2--
MAPT-
-
-
-
3Gain-
MARCH10-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH2-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCKSL1-
-
-
-
1Loss-
MARK4-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST2-
-
-
-
3Gain-
MAST3-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN1-
-
-
-
1Loss-
MATN4-
-
-
-
3Gain-
MATR3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBOAT7-
-
-
-
1Loss-
MBTD1-
-
-
-
3Gain-
MC3R-
-
-
-
3Gain-
MCAM-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCM3AP-
-
-
-
1Loss-
MCMDC2-
-
-
-
3Gain-
MCOLN1-
-
-
-
1Loss-
MCPH1-
-
-
-
3Gain-
MCRIP1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
ME3-
-
-
-
5Amp-
MEAF6-
-
-
-
1Loss-
MECR-
-
-
-
1Loss-
MED1-
-
-
-
3Gain-
MED10-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED13-
-
-
-
3Gain-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
5Amp-
MED18-
-
-
-
1Loss-
MED22-
-
-
-
1Loss-
MED24-
-
-
-
3Gain-
MED25-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED27-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED29-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF6-
-
-
-
1Loss-
MEGF8-
-
-
-
1Loss-
MEGF9-
-
-
-
1Loss-
MEIOC-
-
-
-
3Gain-
MEIS3-
-
-
-
1Loss-
MELK-
-
-
-
1Loss-
MEOX1-
-
-
-
3Gain-
METRNL-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL23-
-
-
-
3Gain-
METTL2A-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFF-
-
-
-
3Gain-
MFHAS1-
-
-
-
3Gain-
MFN2-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD11-
-
-
-
3Gain-
MFSD12-
-
-
-
1Loss-
MFSD14A-
-
-
-
3Gain-
MFSD14B-
-
-
-
1Loss-
MFSD14C-
-
-
-
1Loss-
MFSD2A-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT4B-
-
-
-
1Loss-
MGAT5B-
-
-
-
3Gain-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MIB2-
-
-
-
1Loss-
MICAL2-
-
-
-
9Amp-
MICALL2-
-
-
-
3Gain-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIEN1-
-
-
-
3Gain-
MIER2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIF4GD-
-
-
-
3Gain-
MIGA2-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MILR1-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIOS-
-
-
-
5Amp-
MIOX-
-
-
-
0Del-
MIPEP-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKNK1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKS1-
-
-
-
3Gain-
MLANA-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT3-
-
-
-
0Del-
MLLT6-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLX-
-
-
-
3Gain-
MMACHC-
-
-
-
3Gain-
MMD-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMEL1-
-
-
-
1Loss-
MMP1-
-
-
-
24Amp-
MMP10-
-
-
-
24Amp-
MMP12-
-
-
-
24Amp-
MMP13-
-
-
-
24Amp-
MMP20-
-
-
-
31Amp-
MMP23B-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
31Amp-
MMP28-
-
-
-
3Gain-
MMP3-
-
-
-
24AmpDCUN1D5--MMP3
MMP7-
-
-
-
31Amp-
MMP8-
-
-
-
31Amp-
MMP9-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOB3C-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MON1A-
-
-
-
1Loss-
MORC3-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MORN5-
-
-
-
1Loss-
MOV10L1-
-
-
-
0Del-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
1Loss-
MPL-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPND-
-
-
-
1Loss-
MPO-
-
-
-
3Gain-
MPP2-
-
-
-
3Gain-
MPP3-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRC2-
-
-
-
3Gain-
MRE11-
-
-
-
5Amp-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
3Gain-
MRGPRX2-
-
-
-
3Gain-
MRGPRX3-
-
-
-
3Gain-
MRGPRX4-
-
-
-
3Gain-
MRI1-
-
-
-
1Loss-
MRM1-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL10-
-
-
-
3Gain-
MRPL12-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL20-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL27-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL36-
-
-
-
3Gain-
MRPL37-
-
-
-
3Gain-
MRPL38-
-
-
-
3Gain-
MRPL39-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL41-
-
-
-
1Loss-
MRPL45-
-
-
-
3Gain-
MRPL50-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPL58-
-
-
-
3Gain-
MRPS12-
-
-
-
1Loss-
MRPS15-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS2-
-
-
-
1Loss-
MRPS23-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRPS7-
-
-
-
3Gain-
MRRF-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
9Amp-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD3-
-
-
-
1Loss-
MSANTD3-TMEFF1-
-
-
-
1Loss-
MSANTD4-
-
-
-
7Amp-
MSC-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSI2-
-
-
-
3Gain-
MSL1-
-
-
-
3Gain-
MSMP-
-
-
-
3Gain-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MSX2-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTAP-
-
-
-
0Del-
MTF1-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTFR1L-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR12-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
5Amp-
MTMR4p.D50Y
Missense
SNP
0.602
3Gain-
MTMR6-
-
-
-
1Loss-
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTNR1B-
-
-
-
5Amp-
MTOR-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
3Gain-
MTUS2-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUC7-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUSK-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MUTYH-
-
-
-
3Gain-
MVB12A-
-
-
-
1Loss-
MVB12B-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
1Loss-
MYADM-
-
-
-
1Loss-
MYADML2-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYBPC2-
-
-
-
1Loss-
MYCBP-
-
-
-
1Loss-
MYCBP2-
-
-
-
1Loss-
MYCBPAP-
-
-
-
3Gain-
MYCL-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH14-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4p.D1435H
Missense
SNP
1.000
1Loss-
MYH8-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL4-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYL7-
-
-
-
3Gain-
MYMK-
-
-
-
1Loss-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO15B-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO18A-
-
-
-
3Gain-
MYO19-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO1F-
-
-
-
1Loss-
MYO1G-
-
-
-
3Gain-
MYO9B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOD1-
-
-
-
3Gain-
MYOM2-
-
-
-
3Gain-
MYOM3-
-
-
-
1Loss-
MYORG-
-
-
-
3Gain-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYSM1-
-
-
-
3Gain-
MYT1-
-
-
-
3Gain-
MZB1-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA35-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
5Amp-
NACA2-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NACC1-
-
-
-
1Loss-
NACC2-
-
-
-
1Loss-
NADK-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NAGLU-
-
-
-
3Gain-
NAGS-
-
-
-
3Gain-
NAIF1-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NANS-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NAPSA-
-
-
-
1Loss-
NARF-
-
-
-
1Loss-
NASP-
-
-
-
3Gain-
NAT1-
-
-
-
3Gain-
NAT14-
-
-
-
1Loss-
NAT2-
-
-
-
3Gain-
NAT8L-
-
-
-
1Loss-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
3Gain-
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBR1-
-
-
-
3Gain-
NCAM1-
-
-
-
1Loss-
NCAM2-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCAPH2-
-
-
-
0Del-
NCBP1-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCCRP1-
-
-
-
1Loss-
NCDN-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOR1-
-
-
-
1Loss-
NCR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
3Gain-
NCS1-
-
-
-
1Loss-
NDC1-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDOR1-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA4-
-
-
-
5Amp-
NDUFA7-
-
-
-
1Loss-
NDUFA8-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF8-
-
-
-
1Loss-
NDUFB6-
-
-
-
3Gain-
NDUFB7-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFS5-
-
-
-
1Loss-
NDUFS6-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NECAP2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NECTIN3p.G185A
Missense
SNP
0.636
2--
NEDD4Lp.E893K
Missense
SNP
0.288
2--
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK6-
-
-
-
1Loss-
NEK8-
-
-
-
3Gain-
NELFA-
-
-
-
1Loss-
NELFB-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELL1-
-
-
-
3Gain-
NEURL1B-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD2-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NF1-
-
-
-
3Gain-
NFATC2-
-
-
-
3Gain-
NFE2L1-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFIA-
-
-
-
3Gain-
NFIB-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFIL3-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKBIB-
-
-
-
1Loss-
NFKBID-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFX1-
-
-
-
3Gain-
NFXL1-
-
-
-
1Loss-
NFYC-
-
-
-
1Loss-
NGFR-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NINJ1-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
1Loss-
NIPSNAP3B-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NKAIN1-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPD1-
-
-
-
1Loss-
NKD2-
-
-
-
3Gain-
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
3Gain-
NKPD1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
3Gain-
NKX3-1-
-
-
-
3Gain-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
3Gain-
NLE1-
-
-
-
3Gain-
NLGN2-
-
-
-
1Loss-
NLK-
-
-
-
3Gain-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP11-
-
-
-
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP2-
-
-
-
1Loss-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8-
-
-
-
1Loss-
NLRP9-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
3Gain-
NMNAT1-
-
-
-
1Loss-
NMRK1-
-
-
-
1Loss-
NMRK2-
-
-
-
1Loss-
NMT1-
-
-
-
3Gain-
NMU-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOS2-
-
-
-
3Gain-
NOSIP-
-
-
-
1Loss-
NOTCH1-
-
-
-
1Loss-
NOTCH3-
-
-
-
1Loss-
NOTUM-
-
-
-
1Loss-
NOVA2-
-
-
-
1Loss-
NOX4-
-
-
-
5Amp-
NOXA1-
-
-
-
1Loss-
NPAS1-
-
-
-
1Loss-
NPAT-
-
-
-
7Amp-
NPB-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPDC1-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPEPPS-
-
-
-
3Gain-
NPFFR2-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPHS1-
-
-
-
1Loss-
NPLOC4-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
3Gain-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPR2-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTX1-
-
-
-
1Loss-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR0B2-
-
-
-
4Gain-
NR1D1-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR4A3-
-
-
-
1Loss-
NR5A1-
-
-
-
1Loss-
NR6A1-
-
-
-
1Loss-
NRARP-
-
-
-
1Loss-
NRDC-
-
-
-
4Gain-
NREP-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSD3-
-
-
-
3Gain-
NSF-
-
-
-
3Gain-
NSG1-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSMAFp.I106M
Missense
SNP
0.688
2--
NSMF-
-
-
-
1Loss-
NSRP1-
-
-
-
3Gain-
NSUN2-
-
-
-
3Gain-
NSUN3-
-
-
-
1Loss-
NSUN4-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5C3B-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTF4-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTMT1-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN5-
-
-
-
1Loss-
NTNG1-
-
-
-
3Gain-
NTNG2-
-
-
-
1Loss-
NTRK2-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUCB1-
-
-
-
1Loss-
NUCB2-
-
-
-
3Gain-
NUDC-
-
-
-
4Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT18-
-
-
-
3Gain-
NUDT19-
-
-
-
1Loss-
NUDT2-
-
-
-
3Gain-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUFIP2-
-
-
-
3Gain-
NUMA1p.E1285K
Missense
SNP
0.420
NDND-
NUMBL-
-
-
-
1Loss-
NUP155-
-
-
-
3Gain-
NUP188-
-
-
-
1Loss-
NUP210p.P190L
Missense
SNP
1.000
1Loss-
NUP214-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP62-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUTM2F-
-
-
-
1Loss-
NUTM2G-
-
-
-
1Loss-
NWD1-
-
-
-
1Loss-
NWD2-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXNL2-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXPH1-
-
-
-
5Amp-
NXPH3-
-
-
-
3Gain-
NYAP2-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OBP2A-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF2-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
0Del-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGFOD3-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OGN-
-
-
-
1Loss-
OLFM1-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFM3-
-
-
-
3Gain-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2A-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OMA1-
-
-
-
3Gain-
OMD-
-
-
-
1Loss-
OMG-
-
-
-
3Gain-
ONECUT3-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPRD1-
-
-
-
1Loss-
OPRL1-
-
-
-
3Gain-
OPRPN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR13C2-
-
-
-
1Loss-
OR13C3-
-
-
-
1Loss-
OR13C4-
-
-
-
1Loss-
OR13C5-
-
-
-
1Loss-
OR13C8-
-
-
-
1Loss-
OR13C9-
-
-
-
1Loss-
OR13D1-
-
-
-
1Loss-
OR13F1-
-
-
-
1Loss-
OR13J1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1J1-
-
-
-
1Loss-
OR1J2-
-
-
-
1Loss-
OR1J4-
-
-
-
1Loss-
OR1K1-
-
-
-
1Loss-
OR1L1-
-
-
-
1Loss-
OR1L3-
-
-
-
1Loss-
OR1L4-
-
-
-
1Loss-
OR1L6-
-
-
-
1Loss-
OR1L8-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR1N1-
-
-
-
1Loss-
OR1N2-
-
-
-
1Loss-
OR1Q1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2K2-
-
-
-
1Loss-
OR2S2-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OR2Z1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4D1-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4F5-
-
-
-
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-
OR5C1-
-
-
-
1Loss-
OR5L2p.I289M
Missense
SNP
0.465
2--
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6N1p.A119D
Missense
SNP
0.257
2--
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
ORC1-
-
-
-
3Gain-
ORM1-
-
-
-
1Loss-
ORM2-
-
-
-
1Loss-
ORMDL3-
-
-
-
3Gain-
OSBPL10-
-
-
-
1Loss-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL7-
-
-
-
3Gain-
OSBPL9-
-
-
-
4Gain-
OSCAR-
-
-
-
1Loss-
OSCP1-
-
-
-
1Loss-
OSER1-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSTF1-
-
-
-
1Loss-
OTOG-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVOL3-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXCT2-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXLD1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P3H1-
-
-
-
3Gain-
P3H2-
-
-
-
6Amp-
P3H4-
-
-
-
3Gain-
P4HA2-
-
-
-
1Loss-
P4HB-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPC1L-
-
-
-
3Gain-
PABPC3-
-
-
-
1Loss-
PABPC4-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAEP-
-
-
-
1Loss-
PAF1-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAFAH1B3-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAK4-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM2-
-
-
-
1Loss-
PALM2-AKAP2-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PALMD-
-
-
-
3Gain-
PAN3-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANK4-
-
-
-
1Loss-
PANX1-
-
-
-
5Amp-
PANX2-
-
-
-
0Del-
PANX3-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR6p.A84T
Missense
SNP
0.667
2--
PAQR7-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARK7-
-
-
-
1Loss-
PARM1-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PARP8-
-
-
-
3Gain-
PARVA-
-
-
-
9Amp-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATJ-
-
-
-
3Gain-
PAX5-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PAXX-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX3-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCF11-
-
-
-
5Amp-
PCGF2-
-
-
-
3Gain-
PCGF3-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
3Gain-
PCMTD2-
-
-
-
3Gain-
PCNT-
-
-
-
1Loss-
PCP2-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCSK1-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK5-
-
-
-
1Loss-
PCSK7-
-
-
-
1Loss-
PCTP-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PCYT2-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
3Gain-
PDCD2L-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDCL-
-
-
-
1Loss-
PDCL2-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE1C-
-
-
-
3Gain-
PDE3B-
-
-
-
3Gain-
PDE4A-
-
-
-
1Loss-
PDE4B-
-
-
-
3Gain-
PDE4C-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6G-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE8B-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFD-
-
-
-
24AmpDYNC2H1--PDGFD
PDGFRA-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
3Gain-
PDHB-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDK2-
-
-
-
3Gain-
PDLIM2-
-
-
-
3Gain-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXK-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZK1IP1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP4-
-
-
-
3Gain-
PECAM1-
-
-
-
3Gain-
PEF1-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PEPD-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX10-
-
-
-
1Loss-
PEX11G-
-
-
-
1Loss-
PEX12-
-
-
-
3Gain-
PEX14-
-
-
-
1Loss-
PEX2-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN3-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGM1-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGM5-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PGR-
-
-
-
5Amp-
PGS1-
-
-
-
3Gain-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB-
-
-
-
3Gain-
PHC2-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF12-
-
-
-
3Gain-
PHF13-
-
-
-
1Loss-
PHF14-
-
-
-
5Amp-
PHF19-
-
-
-
1Loss-
PHF2-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHF7-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLDB3-
-
-
-
1Loss-
PHOSPHO1-
-
-
-
3Gain-
PHOX2B-
-
-
-
1Loss-
PHPT1-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHYHD1-
-
-
-
1Loss-
PHYHIP-
-
-
-
3Gain-
PHYKPL-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PI4K2B-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PICALM-
-
-
-
5Amp-
PIDD1-
-
-
-
1Loss-
PIGG-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGO-
-
-
-
3Gain-
PIGP-
-
-
-
1Loss-
PIGS-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGV-
-
-
-
1Loss-
PIGW-
-
-
-
3Gain-
PIH1D1-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3C2A-
-
-
-
3Gain-
PIK3C3-
-
-
-
3Gain-
PIK3CD-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R3-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
5Amp-
PIP4K2B-
-
-
-
3Gain-
PIP5K1B-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PIP5KL1-
-
-
-
1Loss-
PIPOX-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PIWIL2-
-
-
-
3Gain-
PIWIL4-
-
-
-
5Amp-
PJA2-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKN1-
-
-
-
1Loss-
PKN3-
-
-
-
1Loss-
PKNOX1-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G4C-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLAA-
-
-
-
3Gain-
PLAC8-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAT-
-
-
-
3Gain-
PLAUR-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCD3-
-
-
-
3Gain-
PLCG1-
-
-
-
3Gain-
PLCH2-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD3-
-
-
-
3Gain-
PLD2-
-
-
-
1Loss-
PLD3-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEKHA2-
-
-
-
3Gain-
PLEKHA4-
-
-
-
1Loss-
PLEKHA7-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHF1-
-
-
-
1Loss-
PLEKHG2-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHH3-
-
-
-
3Gain-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM1-
-
-
-
3Gain-
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK3-
-
-
-
3Gain-
PLK5-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLPBP-
-
-
-
3Gain-
PLPP1-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP5-
-
-
-
3Gain-
PLPP6-
-
-
-
3Gain-
PLPP7-
-
-
-
1Loss-
PLPPR1-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLPPR4-
-
-
-
3Gain-
PLPPR5-
-
-
-
3Gain-
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLVAP-
-
-
-
1Loss-
PLXDC1-
-
-
-
3Gain-
PLXNA2p.R1042W
Missense
SNP
0.697
2--
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
0Del-
PMEPA1-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMPCA-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PNKP-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNMT-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA7-
-
-
-
1Loss-
PNPO-
-
-
-
3Gain-
PNRC2-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODN-
-
-
-
3Gain-
PODNL1-
-
-
-
1Loss-
POFUT2-
-
-
-
1Loss-
POLB-
-
-
-
3Gain-
POLD1-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLDIP2-
-
-
-
3Gain-
POLE3-
-
-
-
1Loss-
POLG2-
-
-
-
3Gain-
POLK-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLN-
-
-
-
1Loss-
POLR1D-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2I-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR3D-
-
-
-
3Gain-
POLR3G-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POMGNT1-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
3Gain-
POMP-
-
-
-
1Loss-
POMT1-
-
-
-
1Loss-
POP4-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F2-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F1-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCS-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA3-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPIE-
-
-
-
1Loss-
PPIH-
-
-
-
3Gain-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1Hp.I294M
Missense
SNP
0.692
2--
PPM1M-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPP1R12C-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R15A-
-
-
-
1Loss-
PPP1R17-
-
-
-
3Gain-
PPP1R1B-
-
-
-
3Gain-
PPP1R26-
-
-
-
1Loss-
PPP1R27-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3B-
-
-
-
3Gain-
PPP1R3D-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R8-
-
-
-
1Loss-
PPP1R9B-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP3CC-
-
-
-
3Gain-
PPP3R2-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6C-
-
-
-
1Loss-
PPP6R1-
-
-
-
1Loss-
PPP6R2-
-
-
-
0Del-
PPT1-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PPY-
-
-
-
3Gain-
PQLC2-
-
-
-
1Loss-
PRAC1-
-
-
-
3Gain-
PRAC2-
-
-
-
3Gain-
PRAG1-
-
-
-
3Gain-
PRAM1-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRCD-
-
-
-
3Gain-
PRCP-
-
-
-
5Amp-
PRDM10-
-
-
-
1Loss-
PRDM12-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
5Amp-
PRDX1-
-
-
-
3Gain-
PRDX2-
-
-
-
1Loss-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKACA-
-
-
-
1Loss-
PRKACG-
-
-
-
1Loss-
PRKAR1A-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKCA-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKCZ-
-
-
-
1Loss-
PRKD2-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT1-
-
-
-
1Loss-
PRMT2-
-
-
-
1Loss-
PRMT3-
-
-
-
3Gain-
PRMT6-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROCA1-
-
-
-
3Gain-
PRODH2-
-
-
-
1Loss-
PROK1-
-
-
-
0Del-
PROK2-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROS1-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROSER3-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF31-
-
-
-
1Loss-
PRPF38A-
-
-
-
3Gain-
PRPF4-
-
-
-
1Loss-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR11-
-
-
-
3Gain-
PRR12-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR15L-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR27-
-
-
-
1Loss-
PRR29-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2B-
-
-
-
1Loss-
PRRG2-
-
-
-
1Loss-
PRRT1B-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRRX2-
-
-
-
1Loss-
PRSS23p.V101M
Missense
SNP
0.340
5Amp-
PRSS3-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE2-
-
-
-
1Loss-
PRX-
-
-
-
1Loss-
PRXL2B-
-
-
-
1Loss-
PRXL2C-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSAT1-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
3Gain-
PSENEN-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1p.S347*
Nonsense
SNP
1.000
3Gain-
PSMA1-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA7-
-
-
-
3Gain-
PSMB2-
-
-
-
1Loss-
PSMB3-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
1Loss-
PSMC3IP-
-
-
-
3Gain-
PSMC4-
-
-
-
1Loss-
PSMC5-
-
-
-
3Gain-
PSMD11-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD3-
-
-
-
3Gain-
PSMD5-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSME3-
-
-
-
3Gain-
PSMG1-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PTAFR-
-
-
-
1Loss-
PTAR1-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTBP2-
-
-
-
3Gain-
PTBP3-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCH1-
-
-
-
1Loss-
PTCH2-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTGDS-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGES-
-
-
-
1Loss-
PTGES2-
-
-
-
1Loss-
PTGES3L-
-
-
-
3Gain-
PTGES3L-AARSD1-
-
-
-
3Gain-
PTGIR-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTGR1-
-
-
-
1Loss-
PTGS1-
-
-
-
1Loss-
PTH-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTH2-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTOV1-
-
-
-
1Loss-
PTP4A2-
-
-
-
1Loss-
PTPA-
-
-
-
1Loss-
PTPDC1-
-
-
-
1Loss-
PTPN1-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
1Loss-
PTPN5-
-
-
-
3Gain-
PTPRDp.Q1597E
Missense
SNP
1.000
3Gain-
PTPRF-
-
-
-
3Gain-
PTPRG-
-
-
-
1Loss-
PTPRH-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTPRT-
-
-
-
3Gain-
PTPRU-
-
-
-
1Loss-
PTRH1-
-
-
-
1Loss-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PUS3-
-
-
-
1Loss-
PUSL1-
-
-
-
1Loss-
PVALEF-
-
-
-
1Loss-
PVR-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
PYCR1-
-
-
-
1Loss-
PYY-
-
-
-
3Gain-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QRFP-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSOX2-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
R3HCC1-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB11B-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP4-
-
-
-
3Gain-
RAB14-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB24-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB30-
-
-
-
5Amp-
RAB34-
-
-
-
3Gain-
RAB37-
-
-
-
3Gain-
RAB38-
-
-
-
5Amp-
RAB39A-
-
-
-
7Amp-
RAB3A-
-
-
-
1Loss-
RAB3B-
-
-
-
4Gain-
RAB3C-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB40B-
-
-
-
1Loss-
RAB42-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RAB5C-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB8A-
-
-
-
1Loss-
RABAC1-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEPK-
-
-
-
1Loss-
RABGAP1-
-
-
-
1Loss-
RABL2B-
-
-
-
0Del-
RABL6-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAC3-
-
-
-
1Loss-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD23B-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD51D-
-
-
-
3Gain-
RAD51L3-RFFL-
-
-
-
3Gain-
RAD54L-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALGDS-
-
-
-
1Loss-
RALGPS1-
-
-
-
1Loss-
RAMP2-
-
-
-
3Gain-
RANBP17-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPGEF1-
-
-
-
1Loss-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
3Gain-
RAPSNp.R311T
Missense
SNP
0.449
2--
RARA-
-
-
-
3Gain-
RARB-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASEF-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP4-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RASL10B-
-
-
-
3Gain-
RASL11A-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
9Amp-
RASSF6-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAVER2-
-
-
-
3Gain-
RAX2-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
1Loss-
RBBP8NL-
-
-
-
3Gain-
RBFOX3-
-
-
-
3Gain-
RBM11-
-
-
-
1Loss-
RBM15-
-
-
-
0Del-
RBM15B-
-
-
-
1Loss-
RBM18-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM38-
-
-
-
3Gain-
RBM42-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RC3H2-
-
-
-
1Loss-
RCAN1-
-
-
-
1Loss-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
3Gain-
RCN3-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH13-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
RDM1-
-
-
-
3Gain-
RDX-
-
-
-
1Loss-
RECK-
-
-
-
3Gain-
RECQL5-
-
-
-
3Gain-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
3Gain-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
REST-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
RETREG1-
-
-
-
3Gain-
RETREG3-
-
-
-
3Gain-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
REXO4-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFFL-
-
-
-
3Gain-
RFK-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
1Loss-
RFPL4A-
-
-
-
1Loss-
RFPL4AL1-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
3Gain-
RFXANK-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGP1-
-
-
-
3Gain-
RGS12-
-
-
-
1Loss-
RGS14-
-
-
-
1Loss-
RGS19p.E8*
Nonsense
SNP
0.643
3Gain-
RGS3-
-
-
-
1Loss-
RGS7BP-
-
-
-
1Loss-
RGS9-
-
-
-
3Gain-
RGS9BP-
-
-
-
1Loss-
RHBDD1-
-
-
-
3Gain-
RHBDF2-
-
-
-
3Gain-
RHBDL2-
-
-
-
1Loss-
RHBDL3-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOT1-
-
-
-
3Gain-
RHPN2-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIMKLA-
-
-
-
3Gain-
RIMS3-
-
-
-
1Loss-
RIMS4-
-
-
-
3Gain-
RINL-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPOR3-
-
-
-
3Gain-
RIPPLY3-
-
-
-
1Loss-
RIT2-
-
-
-
3Gain-
RLF-
-
-
-
1Loss-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RLN3-
-
-
-
1Loss-
RMI1-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND2-
-
-
-
3Gain-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF122-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF130-
-
-
-
1Loss-
RNF135-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
9Amp-
RNF145-
-
-
-
1Loss-
RNF157-
-
-
-
3Gain-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF170-
-
-
-
3Gain-
RNF180-
-
-
-
1Loss-
RNF183-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF19B-
-
-
-
1Loss-
RNF20-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF208-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF213-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
RNF224-
-
-
-
1Loss-
RNF225-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF38-
-
-
-
3Gain-
RNF4-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF44-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNFT1-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
RNPC3-
-
-
-
3Gain-
ROBO2-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROPN1L-
-
-
-
3Gain-
ROR1-
-
-
-
3Gain-
ROR2-
-
-
-
1Loss-
RORB-
-
-
-
1Loss-
RP1L1-
-
-
-
5Amp-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
5Amp-
RPAIN-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL11-
-
-
-
1Loss-
RPL12-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL18-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL19-
-
-
-
3Gain-
RPL21-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL23-
-
-
-
3Gain-
RPL23A-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL27-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL35-
-
-
-
1Loss-
RPL36-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL38-
-
-
-
3Gain-
RPL7A-
-
-
-
1Loss-
RPL9-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPRML-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS13-
-
-
-
3Gain-
RPS14-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS16-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS21-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6-
-
-
-
3Gain-
RPS6KA1-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPS8-
-
-
-
3Gain-
RPS9-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTOR-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAGA-
-
-
-
3Gain-
RRAGC-
-
-
-
1Loss-
RRAS-
-
-
-
1Loss-
RRAS2-
-
-
-
3Gain-
RRM1-
-
-
-
1Loss-
RRP1-
-
-
-
1Loss-
RRP1B-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSAD1-
-
-
-
3Gain-
RSC1A1-
-
-
-
1Loss-
RSPH1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH6A-
-
-
-
1Loss-
RSPO1-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTCA-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTN2-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUNDC1-
-
-
-
3Gain-
RUNDC3A-
-
-
-
3Gain-
RUNX1-
-
-
-
1Loss-
RUNX3-
-
-
-
1Loss-
RUSC2-
-
-
-
3Gain-
RUVBL2-
-
-
-
1Loss-
RWDD2B-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RXRA-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYR1-
-
-
-
1Loss-
S100B-
-
-
-
1Loss-
S100P-
-
-
-
1Loss-
S100PBP-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR1-
-
-
-
3Gain-
S1PR2-
-
-
-
1Loss-
S1PR3-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAA1-
-
-
-
3Gain-
SAA2-
-
-
-
3Gain-
SAA2-SAA4-
-
-
-
3Gain-
SAA4-
-
-
-
3Gain-
SAAL1-
-
-
-
3Gain-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD1-
-
-
-
1Loss-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
1Loss-
SAMD14-
-
-
-
3Gain-
SAMD4B-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAPCD2-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARDH-
-
-
-
1Loss-
SARM1-
-
-
-
3Gain-
SARS2-
-
-
-
1Loss-
SASS6-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SAXO1-
-
-
-
3Gain-
SBF1-
-
-
-
0Del-
SBF2-
-
-
-
7Amp-
SBK2-
-
-
-
1Loss-
SBK3-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SBSN-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAF1-
-
-
-
1Loss-
SCAF4-
-
-
-
1Loss-
SCAI-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD2-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCMH1-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1B-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCNN1D-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
0Del-
SCP2-
-
-
-
3Gain-
SCPEP1-
-
-
-
3Gain-
SCRIBp.E726K
Missense
SNP
0.368
NDND-
SCRN1-
-
-
-
3Gain-
SCRN2-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDC3-
-
-
-
1Loss-
SDC4-
-
-
-
3Gain-
SDF2-
-
-
-
3Gain-
SDF4-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDHAF1-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDHD-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDK2-
-
-
-
3Gain-
SEBOX-
-
-
-
3Gain-
SEC13-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC16A-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61B-
-
-
-
1Loss-
SECISBP2-
-
-
-
1Loss-
SECTM1-
-
-
-
1Loss-
SEL1L3-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOO-
-
-
-
0Del-
SELENOP-
-
-
-
3Gain-
SELENOV-
-
-
-
1Loss-
SELENOW-
-
-
-
1Loss-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4D-
-
-
-
1Loss-
SEMA5A-
-
-
-
3Gain-
SEMA6Ap.E737Q
Missense
SNP
0.991
1Loss-
SEMA6B-
-
-
-
1Loss-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SEPT9-
-
-
-
3Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERGEF-
-
-
-
3Gain-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
3Gain-
SERINC5-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SERTM1-
-
-
-
1Loss-
SESN2-
-
-
-
1Loss-
SESN3-
-
-
-
5Amp-
SET-
-
-
-
1Loss-
SETBP1-
-
-
-
3Gain-
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1p.R1243C
Missense
SNP
0.704
2--
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SETX-
-
-
-
1Loss-
SEZ6-
-
-
-
3Gain-
SF3A2-
-
-
-
1Loss-
SF3A3-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFN-
-
-
-
4Gain-
SFPQ-
-
-
-
1Loss-
SFRP1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFTPC-
-
-
-
3Gain-
SFXN1-
-
-
-
1Loss-
SGCA-
-
-
-
3Gain-
SGCB-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGCZ-
-
-
-
3Gain-
SGIP1-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGK494-
-
-
-
3Gain-
SGO1-
-
-
-
1Loss-
SGSH-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH2D3C-
-
-
-
1Loss-
SH2D4A-
-
-
-
3Gain-
SH2D5-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D21-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
3Gain-
SH3GLB2-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHANK3-
-
-
-
0Del-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHC3-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA7-
-
-
-
1Loss-
SHISAL2A-
-
-
-
3Gain-
SHISAL2B-
-
-
-
1Loss-
SHKBP1-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC10-
-
-
-
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12-
-
-
-
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIGMAR1-
-
-
-
3Gain-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1L3-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIRT7-
-
-
-
1Loss-
SIT1-
-
-
-
3Gain-
SIVA1-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SKA2-
-
-
-
3Gain-
SKA3-
-
-
-
1Loss-
SKAP1-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A7-
-
-
-
3Gain-
SLC13A2-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2p.E286Q
Missense
SNP
0.343
2--
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A3-
-
-
-
1Loss-
SLC16A4-
-
-
-
0Del-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC17A6-
-
-
-
10Amp-
SLC17A7-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
3Gain-
SLC19A1-
-
-
-
1Loss-
SLC1A1-
-
-
-
3Gain-
SLC1A3-
-
-
-
3Gain-
SLC1A5-
-
-
-
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC1A7-
-
-
-
3Gain-
SLC20A2-
-
-
-
3Gain-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
3Gain-
SLC25A10-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A19-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A25-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
3Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A39-
-
-
-
3Gain-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A11-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC27A4-
-
-
-
1Loss-
SLC27A5-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC28A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A1-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
1Loss-
SLC2A6-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC2A8-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A2-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A7-
-
-
-
3Gain-
SLC30A9-
-
-
-
1Loss-
SLC31A1-
-
-
-
1Loss-
SLC31A2-
-
-
-
1Loss-
SLC34A1-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC34A3-
-
-
-
1Loss-
SLC35A3-
-
-
-
3Gain-
SLC35A4-
-
-
-
1Loss-
SLC35B1-
-
-
-
3Gain-
SLC35C2-
-
-
-
3Gain-
SLC35D2-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35F2-
-
-
-
7Amp-
SLC35G3-
-
-
-
3Gain-
SLC35G5-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
5Amp-
SLC37A1-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A10-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A11-
-
-
-
3Gain-
SLC39A14-
-
-
-
3Gain-
SLC39A3-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A2-
-
-
-
3Gain-
SLC46A1-
-
-
-
3Gain-
SLC46A2-
-
-
-
1Loss-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A1-
-
-
-
3Gain-
SLC4A4-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A16-
-
-
-
1Loss-
SLC6A17-
-
-
-
0Del-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
3Gain-
SLC6A4-
-
-
-
3Gain-
SLC6A5-
-
-
-
3Gain-
SLC6A6-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC6A9-
-
-
-
3Gain-
SLC7A1-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A2-
-
-
-
3Gain-
SLC7A9-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A3-
-
-
-
3Gain-
SLC9A3R1-
-
-
-
3Gain-
SLC9A8-
-
-
-
3Gain-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLF1-
-
-
-
1Loss-
SLFN11-
-
-
-
3Gain-
SLFN12-
-
-
-
3Gain-
SLFN12L-
-
-
-
3Gain-
SLFN13-
-
-
-
3Gain-
SLFN14-
-
-
-
3Gain-
SLFN5-
-
-
-
3Gain-
SLFNL1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLN-
-
-
-
7Amp-
SLPI-
-
-
-
3Gain-
SLU7-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP2-
-
-
-
1Loss-
SMARCA2-
-
-
-
3Gain-
SMARCA4-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMARCD2-
-
-
-
3Gain-
SMARCE1-
-
-
-
3Gain-
SMC2-
-
-
-
1Loss-
SMC4p.E76K
Missense
SNP
0.262
2--
SMC5-
-
-
-
1Loss-
SMCO4-
-
-
-
5Amp-
SMCR8-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMG8-
-
-
-
3Gain-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM12-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM19-
-
-
-
3Gain-
SMIM2-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMIM7-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMPDL3B-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMURF2-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
3Gain-
SNAPC4-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SNF8-
-
-
-
3Gain-
SNIP1-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP40-
-
-
-
1Loss-
SNRNP70-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPD2-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX11-
-
-
-
3Gain-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX24-
-
-
-
1Loss-
SNX30-
-
-
-
1Loss-
SNX7-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOCS3-
-
-
-
3Gain-
SOCS7-
-
-
-
3Gain-
SOD1-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOHLH1-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS3-
-
-
-
3Gain-
SORCS2-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOST-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX18-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX6-
-
-
-
3Gain-
SOX7-
-
-
-
5Amp-
SOX9-
-
-
-
3Gain-
SP2-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP6-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPAAR-
-
-
-
3Gain-
SPACA3p.L174F
Missense
SNP
0.153
3Gain-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPACA9-
-
-
-
1Loss-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG5-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
3Gain-
SPAG9-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA2-
-
-
-
3Gain-
SPATA20-
-
-
-
3Gain-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA31E1-
-
-
-
1Loss-
SPATA32-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATA9-
-
-
-
1Loss-
SPATC1L-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEF2-
-
-
-
3Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPHK1-
-
-
-
3Gain-
SPHK2-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPIN1-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINK4-
-
-
-
3Gain-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT2-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPON1-
-
-
-
3Gain-
SPON2-
-
-
-
1Loss-
SPOP-
-
-
-
3Gain-
SPOUT1-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPPL2C-
-
-
-
3Gain-
SPRED3-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SPTAN1-
-
-
-
1Loss-
SPTBN4-
-
-
-
1Loss-
SPTLC1-
-
-
-
1Loss-
SPTY2D1-
-
-
-
3Gain-
SPZ1-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRCAPp.S1125C
Missense
SNP
1.000
2--
SRCIN1-
-
-
-
3Gain-
SRD5A1-
-
-
-
3Gain-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP19-
-
-
-
1Loss-
SRP68-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM5-
-
-
-
1Loss-
SRSF1-
-
-
-
3Gain-
SRSF10-
-
-
-
1Loss-
SRSF2-
-
-
-
3Gain-
SRSF4-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF8-
-
-
-
5Amp-
SS18L1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSC5D-
-
-
-
1Loss-
SSH2-
-
-
-
3Gain-
SSNA1-
-
-
-
1Loss-
SSTR2-
-
-
-
3Gain-
SSU72-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC4-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAC2-
-
-
-
3Gain-
STAP1-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
3Gain-
STARD13-
-
-
-
1Loss-
STARD3-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STAT3-
-
-
-
3Gain-
STAT5A-
-
-
-
3Gain-
STAT5B-
-
-
-
3Gain-
STATH-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STBD1-
-
-
-
1Loss-
STC1-
-
-
-
3Gain-
STC2-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STH-
-
-
-
3Gain-
STIL-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK24-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STK40-
-
-
-
1Loss-
STKLD1-
-
-
-
1Loss-
STMN1-
-
-
-
1Loss-
STMN3-
-
-
-
3Gain-
STOM-
-
-
-
1Loss-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG3-
-
-
-
1Loss-
STRADA-
-
-
-
3Gain-
STRBP-
-
-
-
1Loss-
STRC-
-
-
-
3Gain-
STRIP1-
-
-
-
0Del-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX17-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP4-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUMO3-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUPT20H-
-
-
-
1Loss-
SUPT4H1-
-
-
-
3Gain-
SUPT5H-
-
-
-
1Loss-
SUPT6H-
-
-
-
3Gain-
SURF1-
-
-
-
1Loss-
SURF2-
-
-
-
1Loss-
SURF4-
-
-
-
1Loss-
SURF6-
-
-
-
1Loss-
SUSD1-
-
-
-
1Loss-
SUSD3-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUZ12-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVBP-
-
-
-
3Gain-
SVEP1-
-
-
-
1Loss-
SVIP-
-
-
-
10Amp-
SWAP70-
-
-
-
7Amp-
SWI5-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCE3-
-
-
-
0Del-
SYCN-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYDE1-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
1Loss-
SYMPK-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYNC-
-
-
-
1Loss-
SYNE4-
-
-
-
1Loss-
SYNGR2-
-
-
-
3Gain-
SYNGR4-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYNRG-
-
-
-
3Gain-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT3-
-
-
-
1Loss-
SYT4-
-
-
-
3Gain-
SYT5-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYTL2-
-
-
-
5Amp-
SZRD1-
-
-
-
1Loss-
SZT2-
-
-
-
3Gain-
TAC4-
-
-
-
3Gain-
TACC1-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TACSTD2-
-
-
-
3Gain-
TADA2A-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF15-
-
-
-
3Gain-
TAF1D-
-
-
-
5Amp-
TAF1L-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAL1-
-
-
-
3Gain-
TAL2-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANC2-
-
-
-
3Gain-
TAOK1-
-
-
-
3Gain-
TAPT1-
-
-
-
1Loss-
TARDBP-
-
-
-
1Loss-
TARM1-
-
-
-
1Loss-
TARS-
-
-
-
3Gain-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TAS2R1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10Ap.E68*
Nonsense
SNP
0.647
2--
TBC1D13-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D16-
-
-
-
1Loss-
TBC1D17-
-
-
-
1Loss-
TBC1D19-
-
-
-
1Loss-
TBC1D2-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
3Gain-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCB-
-
-
-
1Loss-
TBCD-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBKBP1-
-
-
-
3Gain-
TBRG1-
-
-
-
1Loss-
TBX2-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBX21-
-
-
-
3Gain-
TBX4-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCAP-
-
-
-
3Gain-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCEANC2-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCF3-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCIM-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTEX1D4-
-
-
-
3Gain-
TDGF1-
-
-
-
1Loss-
TDRD12-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRD7-
-
-
-
1Loss-
TDRP-
-
-
-
3Gain-
TEAD1-
-
-
-
9Amp-
TEAD2-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEFM-
-
-
-
3Gain-
TEK-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TENT5B-
-
-
-
3Gain-
TEPSIN-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TESK1-
-
-
-
3Gain-
TESK2-
-
-
-
3Gain-
TEX10-
-
-
-
1Loss-
TEX101-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX14-
-
-
-
3Gain-
TEX19-
-
-
-
1Loss-
TEX2-
-
-
-
3Gain-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX48-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFAP2E-
-
-
-
1Loss-
TFDP1-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFPT-
-
-
-
1Loss-
TGDS-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGFBR1-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP1-
-
-
-
3Gain-
THAP3-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP8-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEMIS2-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THRA-
-
-
-
3Gain-
THRAP3-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAF1-
-
-
-
3Gain-
TIAM1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIE1-
-
-
-
3Gain-
TIFAB-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMM50-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMP2-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TINAGL1-
-
-
-
1Loss-
TIRAP-
-
-
-
1Loss-
TJP2-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TK1p.E169Q
Missense
SNP
0.503
3Gain-
TKT-
-
-
-
1Loss-
TLCD1-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLE1-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE4-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLN1-
-
-
-
3Gain-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR4-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM2D2-
-
-
-
3Gain-
TM4SF20-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMC1-
-
-
-
1Loss-
TMC4-
-
-
-
1Loss-
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCO2-
-
-
-
1Loss-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEFF1-
-
-
-
1Loss-
TMEM100-
-
-
-
3Gain-
TMEM101-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
1Loss-
TMEM106A-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM123-
-
-
-
31Amp-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
5Amp-
TMEM126B-
-
-
-
5Amp-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM132E-
-
-
-
3Gain-
TMEM135-
-
-
-
5Amp-
TMEM136-
-
-
-
1Loss-
TMEM141-
-
-
-
1Loss-
TMEM143-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM147-
-
-
-
1Loss-
TMEM150B-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM190-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM199-
-
-
-
3Gain-
TMEM200B-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM203-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM207-
-
-
-
6Amp-
TMEM210-
-
-
-
1Loss-
TMEM215-
-
-
-
3Gain-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM234-
-
-
-
1Loss-
TMEM235-
-
-
-
3Gain-
TMEM238-
-
-
-
1Loss-
TMEM240-
-
-
-
1Loss-
TMEM245-
-
-
-
1Loss-
TMEM246-
-
-
-
1Loss-
TMEM25-
-
-
-
1Loss-
TMEM250-
-
-
-
1Loss-
TMEM252-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM268-
-
-
-
1Loss-
TMEM269-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM35B-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM38B-
-
-
-
1Loss-
TMEM39B-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM53-
-
-
-
3Gain-
TMEM54-
-
-
-
1Loss-
TMEM59-
-
-
-
3Gain-
TMEM59L-
-
-
-
1Loss-
TMEM69-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM82-
-
-
-
1Loss-
TMEM86A-
-
-
-
3Gain-
TMEM86B-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
3Gain-
TMEM91-
-
-
-
1Loss-
TMEM92-
-
-
-
3Gain-
TMEM94-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
3Gain-
TMEM98-
-
-
-
3Gain-
TMEM99-
-
-
-
3Gain-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD1-
-
-
-
3Gain-
TMIGD2-
-
-
-
1Loss-
TMOD1-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMUB2-
-
-
-
3Gain-
TNC-
-
-
-
1Loss-
TNFAIP1-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF15-
-
-
-
1Loss-
TNFSF8-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
3Gain-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNT1-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNRC18-
-
-
-
3Gain-
TNRC6C-
-
-
-
3Gain-
TNS4-
-
-
-
3Gain-
TOB1-
-
-
-
3Gain-
TOE1-
-
-
-
3Gain-
TOLLIP-
-
-
-
1Loss-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM40-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM7-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP2A-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPORS-
-
-
-
3Gain-
TOR1A-
-
-
-
1Loss-
TOR1B-
-
-
-
1Loss-
TOR2A-
-
-
-
1Loss-
TOR4A-
-
-
-
1Loss-
TOX2-
-
-
-
3Gain-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53I13-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP63-
-
-
-
6Amp-
TP73-
-
-
-
1Loss-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPH1-
-
-
-
3Gain-
TPM2-
-
-
-
3Gain-
TPM4-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPRG1L-
-
-
-
1Loss-
TPRN-
-
-
-
1Loss-
TPRX1-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRA2A-
-
-
-
3Gain-
TRABD-
-
-
-
0Del-
TRAF1-
-
-
-
1Loss-
TRAF2-
-
-
-
1Loss-
TRAF4-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC3-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRIL-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM14-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM32-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM37-
-
-
-
3Gain-
TRIM41-
-
-
-
1Loss-
TRIM47-
-
-
-
3Gain-
TRIM49-
-
-
-
5Amp-
TRIM49C-
-
-
-
5Amp-
TRIM49D1-
-
-
-
5Amp-
TRIM49D2-
-
-
-
5Amp-
TRIM5-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM62-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM64B-
-
-
-
5Amp-
TRIM65-
-
-
-
3Gain-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM77-
-
-
-
5Amp-
TRIO-
-
-
-
3Gain-
TRIP10-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIR-
-
-
-
1Loss-
TRIT1-
-
-
-
1Loss-
TRMO-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT13-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
3Gain-
TRNT1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC4-
-
-
-
1Loss-
TRPC6-
-
-
-
5Amp-
TRPC7-
-
-
-
1Loss-
TRPM2-
-
-
-
1Loss-
TRPM3-
-
-
-
1Loss-
TRPM4-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM6-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRUB2-
-
-
-
1Loss-
TSC1-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSEN2-
-
-
-
1Loss-
TSEN34-
-
-
-
1Loss-
TSEN54-
-
-
-
3Gain-
TSG101-
-
-
-
3Gain-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
1Loss-
TSKS-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSPAN1-
-
-
-
3Gain-
TSPAN10-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN17-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSPOAP1-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK3-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTD2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC16-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC25-
-
-
-
3Gain-
TTC3-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC39B-
-
-
-
3Gain-
TTC9B-
-
-
-
1Loss-
TTF1-
-
-
-
1Loss-
TTI2-
-
-
-
3Gain-
TTLL10-
-
-
-
1Loss-
TTLL11-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL6-
-
-
-
3Gain-
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TTYH1-
-
-
-
1Loss-
TTYH2-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBB1-
-
-
-
3Gain-
TUBB4A-
-
-
-
1Loss-
TUBB4B-
-
-
-
1Loss-
TUBD1-
-
-
-
3Gain-
TUBG1-
-
-
-
3Gain-
TUBG2-
-
-
-
3Gain-
TUBGCP3-
-
-
-
1Loss-
TUBGCP6-
-
-
-
0Del-
TULP2-
-
-
-
1Loss-
TUSC1-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
3Gain-
TUT4-
-
-
-
3Gain-
TUT7-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXK-
-
-
-
1Loss-
TXLNA-
-
-
-
1Loss-
TXN-
-
-
-
1Loss-
TXNDC12-
-
-
-
4Gain-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC8-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYMP-
-
-
-
0Del-
TYR-
-
-
-
5Amp-
TYROBP-
-
-
-
1Loss-
TYRP1-
-
-
-
3Gain-
U2AF1-
-
-
-
1Loss-
U2AF1L4-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2AF2-
-
-
-
1Loss-
UAP1L1-
-
-
-
1Loss-
UBA2-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC1-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBAP1-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBASH3A-
-
-
-
1Loss-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2L5-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2O-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2R2-
-
-
-
3Gain-
UBE2S-
-
-
-
1Loss-
UBE2U-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2Z-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBL4B-
-
-
-
0Del-
UBL5-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBTF-
-
-
-
3Gain-
UBTFL1-
-
-
-
5Amp-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCK1-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UEVLD-
-
-
-
3Gain-
UFM1-
-
-
-
1Loss-
UGCG-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF2-
-
-
-
3Gain-
UIMC1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
5Amp-
UMODL1-
-
-
-
1Loss-
UNC119-
-
-
-
3Gain-
UNC13A-
-
-
-
1Loss-
UNC13B-
-
-
-
3Gain-
UNC13D-
-
-
-
3Gain-
UNC45B-
-
-
-
3Gain-
UNC5A-
-
-
-
1Loss-
UNC5D-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UNK-
-
-
-
3Gain-
UPF1-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK1A-
-
-
-
1Loss-
UPK2-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URI1-
-
-
-
1Loss-
URM1-
-
-
-
1Loss-
UROD-
-
-
-
3Gain-
USE1-
-
-
-
1Loss-
USF2-
-
-
-
1Loss-
USH1C-
-
-
-
3Gain-
USH1G-
-
-
-
3Gain-
USHBP1-
-
-
-
1Loss-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
3Gain-
USP12-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP17L1-
-
-
-
3Gain-
USP17L13-
-
-
-
1Loss-
USP17L3-
-
-
-
3Gain-
USP17L4-
-
-
-
3Gain-
USP17L7-
-
-
-
3Gain-
USP17L8-
-
-
-
3Gain-
USP19-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP20-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP36-
-
-
-
3Gain-
USP4-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP47-
-
-
-
9Amp-
USP48-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UTP11-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP18-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTP6-
-
-
-
3Gain-
UTS2-
-
-
-
1Loss-
UTS2R-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VASP-
-
-
-
1Loss-
VAT1-
-
-
-
3Gain-
VAV1-
-
-
-
1Loss-
VAV2-
-
-
-
1Loss-
VCAM1-
-
-
-
3Gain-
VCAN-
-
-
-
1Loss-
VCP-
-
-
-
3Gain-
VCPIP1-
-
-
-
3Gain-
VDAC1-
-
-
-
1Loss-
VDAC3-
-
-
-
3Gain-
VEZF1-
-
-
-
3Gain-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VLDLR-
-
-
-
3Gain-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13A-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS25-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS26C-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM1-
-
-
-
1Loss-
VSTM2B-
-
-
-
1Loss-
VSTM5-
-
-
-
5Amp-
VTN-
-
-
-
3Gain-
VWA1-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
VXN-
-
-
-
3Gain-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP4-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR31-
-
-
-
1Loss-
WDR34-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR38-
-
-
-
1Loss-
WDR4-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR45B-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR5-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR62-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR91p.S316R
Missense
SNP
0.704
2--
WDTC1-
-
-
-
1Loss-
WEE1-
-
-
-
7Amp-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WFIKKN2-
-
-
-
3Gain-
WFS1-
-
-
-
1Loss-
WHRN-
-
-
-
1Loss-
WIPF2-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI1-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNK2-
-
-
-
1Loss-
WNK4-
-
-
-
3Gain-
WNT3-
-
-
-
3Gain-
WNT4-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WNT9B-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WSB1-
-
-
-
3Gain-
WSCD1-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
XAB2p.R167Q
Missense
SNP
1.000
1Loss-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR8-
-
-
-
1Loss-
XKR9-
-
-
-
3Gain-
XPA-
-
-
-
1Loss-
XPC-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPO7-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
XYLT2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YAP1-
-
-
-
31Amp-
YARS-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YBX1-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YIF1B-
-
-
-
1Loss-
YIPF1-
-
-
-
3Gain-
YIPF2-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YPEL2-
-
-
-
3Gain-
YRDC-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZACN-
-
-
-
3Gain-
ZAR1-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBED3-
-
-
-
1Loss-
ZBED5-
-
-
-
9Amp-
ZBED8-
-
-
-
1Loss-
ZBP1-
-
-
-
3Gain-
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB21-
-
-
-
1Loss-
ZBTB26-
-
-
-
1Loss-
ZBTB32-
-
-
-
1Loss-
ZBTB34-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB43-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB6-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB8A-
-
-
-
1Loss-
ZBTB8B-
-
-
-
1Loss-
ZBTB8OS-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
3Gain-
ZC3H12A-
-
-
-
1Loss-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H4-
-
-
-
1Loss-
ZCCHC10-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC12-
-
-
-
1Loss-
ZDHHC13-
-
-
-
3Gain-
ZDHHC18-
-
-
-
4Gain-
ZDHHC2-
-
-
-
3Gain-
ZDHHC20-
-
-
-
1Loss-
ZDHHC21-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZER1-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND5-
-
-
-
1Loss-
ZFHX4-
-
-
-
3Gain-
ZFP14-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP36-
-
-
-
1Loss-
ZFP37-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP64-
-
-
-
3Gain-
ZFP69-
-
-
-
1Loss-
ZFP69B-
-
-
-
1Loss-
ZFP82-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE1p.R458H
Missense
SNP
0.243
2--
ZFYVE16-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZFYVE9-
-
-
-
3Gain-
ZGLP1-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT4-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
1Loss-
ZMYM1-
-
-
-
1Loss-
ZMYM2-
-
-
-
1Loss-
ZMYM4-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYM6-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND12-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZMYND19-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF112-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF12-
-
-
-
3Gain-
ZNF121-
-
-
-
1Loss-
ZNF131-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF143-
-
-
-
7Amp-
ZNF146-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF169-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF189-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF207-
-
-
-
3Gain-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF260-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF292p.E2679*
Nonsense
SNP
0.613
2--
ZNF296-
-
-
-
1Loss-
ZNF30-
-
-
-
1Loss-
ZNF300-
-
-
-
1Loss-
ZNF302-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF317-
-
-
-
1Loss-
ZNF320-
-
-
-
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF331-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF345-
-
-
-
1Loss-
ZNF346-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF362-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF367-
-
-
-
1Loss-
ZNF382-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF385C-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF404-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF428-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF436-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF444-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
1Loss-
ZNF462-
-
-
-
1Loss-
ZNF468-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF473-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF483-
-
-
-
1Loss-
ZNF484-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF497-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF507-
-
-
-
1Loss-
ZNF510-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF518B-
-
-
-
1Loss-
ZNF524-
-
-
-
1Loss-
ZNF525-
-
-
-
1Loss-
ZNF526-
-
-
-
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF529-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF536-
-
-
-
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF541-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF546-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF565-
-
-
-
1Loss-
ZNF566-
-
-
-
1Loss-
ZNF567-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
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-
ZNF589-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
3Gain-
ZNF599-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF618-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF628-
-
-
-
1Loss-
ZNF649-
-
-
-
1Loss-
ZNF652-
-
-
-
3Gain-
ZNF653-
-
-
-
1Loss-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF684-
-
-
-
1Loss-
ZNF69-
-
-
-
1Loss-
ZNF691-
-
-
-
3Gain-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF701-
-
-
-
1Loss-
ZNF703-
-
-
-
3Gain-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF71-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF750-
-
-
-
1Loss-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF780A-
-
-
-
1Loss-
ZNF780B-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF782-
-
-
-
1Loss-
ZNF784-
-
-
-
1Loss-
ZNF787-
-
-
-
1Loss-
ZNF79-
-
-
-
1Loss-
ZNF790-
-
-
-
1Loss-
ZNF791-
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-
-
1Loss-
ZNF792-
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-
-
1Loss-
ZNF793-
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-
1Loss-
ZNF799-
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-
-
1Loss-
ZNF8-
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-
-
1Loss-
ZNF805-
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-
-
1Loss-
ZNF808-
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-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
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-
-
1Loss-
ZNF816-
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-
-
1Loss-
ZNF816-ZNF321P-
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-
-
1Loss-
ZNF823-
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-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF830-
-
-
-
3Gain-
ZNF831-
-
-
-
3Gain-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF841-
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-
-
1Loss-
ZNF844-
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-
-
1Loss-
ZNF845-
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-
1Loss-
ZNF846-
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-
-
1Loss-
ZNF85-
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-
-
1Loss-
ZNF850-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF853-
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-
-
3Gain-
ZNF860-
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-
-
1Loss-
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF879-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF883-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNHIT3-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZNRF4-
-
-
-
1Loss-
ZPBP2-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN20-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM4-
-
-
-
1Loss-
ZSWIM5-
-
-
-
3Gain-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZYG11A-
-
-
-
3Gain-
ZYG11B-
-
-
-
3Gain-
ZZEF1-
-
-
-
1Loss-