BCM-3561-PDX

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AANAT-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCB9-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABL1p.R492*
Nonsense
SNP
0.400
2--
ABL2-
-
-
-
3Gain-
AC002985.1-
-
-
-
1Loss-
AC002996.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
0Del-
AC005324.3-
-
-
-
0Del-
AC005324.4-
-
-
-
0Del-
AC005779.2-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006538.2-
-
-
-
0Del-
AC007192.1-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008537.1-
-
-
-
0Del-
AC008758.1-
-
-
-
0Del-
AC008758.4-
-
-
-
0Del-
AC008758.5-
-
-
-
0Del-
AC008758.6-
-
-
-
0Del-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
0Del-
AC008770.2-
-
-
-
0Del-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC008982.1-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
0Del-
AC010326.2-
-
-
-
1Loss-
AC010327.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
0Del-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010487.3-
-
-
-
0Del-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
0Del-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011330.3-
-
-
-
0Del-
AC011448.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC020907.6-
-
-
-
3Gain-
AC020922.1-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC048338.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
1Loss-
AC068580.4-
-
-
-
5Amp-
AC068775.1-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC074143.1-
-
-
-
1Loss-
AC087289.3-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
0Del-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC115220.1-
-
-
-
0Del-
AC118470.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC134980.3-
-
-
-
0Del-
AC135068.1-
-
-
-
0Del-
AC135068.3-
-
-
-
0Del-
AC135178.2-
-
-
-
1Loss-
AC139491.7-
-
-
-
0Del-
AC144573.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243967.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD4p.E311*
Nonsense
SNP
0.486
2--
ACBD6-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACHEp.V442M
Missense
SNP
0.432
2--
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOX1-
-
-
-
1Loss-
ACP5-
-
-
-
0Del-
ACP6-
-
-
-
3Gain-
ACP7-
-
-
-
1Loss-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSM1p.R28H
Missense
SNP
0.464
2--
ACSM4-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTL9-
-
-
-
0Del-
ACTN2-
-
-
-
3Gain-
ACTN4-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
AD000671.1-
-
-
-
3Gain-
AD000671.2-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
0Del-
ADAMTS18-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS5-
-
-
-
1Loss-
ADAMTS8p.E515Q
Missense
SNP
0.500
2--
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADARB1-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCY10-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADGRA2p.P587L
Missense
SNP
0.953
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRD1-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG4p.L303V
Missense
SNP
0.560
NDND-
ADGRG5-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRV1p.D1912N
Missense
SNP
0.500
2--
ADIPOR1-
-
-
-
3Gain-
ADIPOR2-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
AES-
-
-
-
0Del-
AGPAT3-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AICDA-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AKAP12p.A877T
Missense
SNP
0.576
2--
AKAP3-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIRIN2-
-
-
-
1Loss-
AKT1p.E49K
Missense
SNP
0.422
2--
AKT2-
-
-
-
0Del-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
0Del-
AL049697.1-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL365232.1-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL589666.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL669831.3-
-
-
-
NDNDAL669831.3--PLCG2
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
0Del-
ALDH2-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG10-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH6-
-
-
-
3Gain-
ALKBH7-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPPL2p.R144H
Missense
SNP
0.500
NDND-
ALS2CL-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMHp.R95P
Missense
SNP
0.326
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMPD1p.H84Y
Missense
SNP
0.471
2--
AMT-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL1-
-
-
-
3Gain-
ANGPTL4-
-
-
-
0Del-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANHX-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKLE2-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12p.E932K
Missense
SNP
0.547
2--
ANKRD18A-
-
-
-
0Del-
ANKRD20A2-
-
-
-
0Del-
ANKRD24-
-
-
-
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD36-
-
-
-
0Del-
ANKRD36B-
-
-
-
0Del-
ANKRD36C-
-
-
-
0Del-
ANKRD45-
-
-
-
3Gain-
ANKRD54-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP2A2-
-
-
-
5Amp-
AP2S1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APCp.R2780T
Missense
SNP
0.558
2--
APC2-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APLP1-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
0Del-
APOBEC3C-
-
-
-
0Del-
APOBEC3D-
-
-
-
0Del-
APOBEC3F-
-
-
-
0Del-
APOBEC3G-
-
-
-
0Del-
APOBEC3H-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APP-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
ARF1-
-
-
-
3Gain-
ARFGAP3-
-
-
-
1Loss-
ARHGAP20p.D89H
Missense
SNP
0.500
2--
ARHGAP30-
-
-
-
3Gain-
ARHGAP33-
-
-
-
3Gain-
ARHGAP35-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARID1Ap.Q611*
p.Q920*
Nonsense
Nonsense
SNP
SNP
0.559
0.541
2--
ARID3A-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL6IP4-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARMC6-
-
-
-
1Loss-
ARMC7-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPP21-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ASAH1-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL2-
-
-
-
5Amp-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
1Loss-
ASL-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASTLp.W94*
Nonsense
SNP
0.463
2--
ASTN1-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATF7IP-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A3-
-
-
-
1Loss-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP2B4-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP4A-
-
-
-
3Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5PD-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXL-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT5-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT4-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALNT3-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B9D2-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAZ2Bp.F483L
p.S465C
Missense
Missense
SNP
SNP
0.473
0.481
2--
BBC3-
-
-
-
1Loss-
BBOX1p.E85K
Missense
SNP
0.511
2--
BBS2-
-
-
-
1Loss-
BCAM-
-
-
-
1Loss-
BCANp.I405M
Missense
SNP
0.216
3Gain-
BCAR1-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCKDHB-
-
-
-
1Loss-
BCL2L12p.R45G
Missense
SNP
0.443
2--
BCL2L14-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICDL1-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC8-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLVRB-
-
-
-
0Del-
BLZF1-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP7p.R314Q
Missense
SNP
0.471
2--
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
0Del-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BPNT1-
-
-
-
3Gain-
BRAP-
-
-
-
1Loss-
BRD1-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3BP-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRSK1-
-
-
-
1Loss-
BRSK2-
-
-
-
5Amp-
BRWD1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BTBD17-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTG3-
-
-
-
1Loss-
C11orf21-
-
-
-
5Amp-
C12orf4-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf49-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf65-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
3Gain-
C17orf80-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf47-
-
-
-
0Del-
C19orf53-
-
-
-
1Loss-
C19orf54-
-
-
-
0Del-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QTNF6-
-
-
-
1Loss-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C3-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4A-
-
-
-
0Del-
C4B-
-
-
-
0Del-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C6orf163-
-
-
-
1Loss-
C7orf26p.A227V
Missense
SNP
0.523
2--
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABP1-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA1I-
-
-
-
1Loss-
CACNA1S-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D4-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADM4-
-
-
-
1Loss-
CALB2-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMKK2-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAMSAP3-
-
-
-
1Loss-
CAPN12-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS1-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CATSPER2-
-
-
-
0Del-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERGp.F637L
Missense
SNP
0.409
1Loss-
CBARP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLC-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC106-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
0Del-
CCDC151-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC22p.S529F
Missense
SNP
0.509
NDND-
CCDC25-
-
-
-
1Loss-
CCDC33p.E425Q
Missense
SNP
0.410
2--
CCDC36-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC77-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC88Cp.E1147K
Missense
SNP
0.521
2--
CCDC9-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCER2-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL25-
-
-
-
0Del-
CCNA1p.V341I
Missense
SNP
0.369
2--
CCND2-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT8-
-
-
-
1Loss-
CCT8L2-
-
-
-
0Del-
CD109-
-
-
-
0Del-
CD151-
-
-
-
5Amp-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD209-
-
-
-
1Loss-
CD22-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD27-
-
-
-
1Loss-
CD300A-
-
-
-
1Loss-
CD300C-
-
-
-
1Loss-
CD300E-
-
-
-
1Loss-
CD300LB-
-
-
-
1Loss-
CD300LD-
-
-
-
1Loss-
CD300LF-
-
-
-
1Loss-
CD320-
-
-
-
0Del-
CD34-
-
-
-
3Gain-
CD3EAP-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD79A-
-
-
-
1Loss-
CD81-
-
-
-
5Amp-
CD84-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42EP1-
-
-
-
1Loss-
CDC42EP4-
-
-
-
1Loss-
CDC42EP5-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA3-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH20p.D191N
Missense
SNP
0.446
2--
CDH3-
-
-
-
1Loss-
CDH4p.D775N
Missense
SNP
0.477
2--
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
0Del-
CDK11B-
-
-
-
0Del-
CDK18-
-
-
-
3Gain-
CDK2AP1-
-
-
-
1Loss-
CDK3-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDR2L-
-
-
-
1Loss-
CDRT1-
-
-
-
0Del-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
0Del-
CDRT4-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDV3p.E212K
Missense
SNP
0.636
2--
CDYL2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5-
-
-
-
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPG-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF5-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEND1-
-
-
-
5Amp-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP170Bp.R347H
Missense
SNP
0.531
2--
CEP350-
-
-
-
3Gain-
CEP89-
-
-
-
1Loss-
CERK-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS4-
-
-
-
0Del-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP20-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP410-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP73-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1p.S221L
Missense
SNP
0.382
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CHADL-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHCHD2-
-
-
-
0Del-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHFR-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHID1-
-
-
-
5Amp-
CHIT1-
-
-
-
3Gain-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHODL-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRNA1p.V263I
p.V233M
Missense
Missense
SNP
SNP
0.118
0.373
2--
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST8-
-
-
-
3Gain-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB3-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKMT1A-
-
-
-
0Del-
CKMT1B-
-
-
-
0Del-
CKS1B-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLASRP-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLIP3-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLN8-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGB1p.K414N
Missense
SNP
0.957
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR2p.E418K
Missense
SNP
0.429
NDND-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT3-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTD2-
-
-
-
0Del-
CNTN2-
-
-
-
3Gain-
CNTN5p.D292H
Missense
SNP
0.622
2--
CNTNAP3-
-
-
-
0Del-
CNTNAP3B-
-
-
-
0Del-
CNTNAP4-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COG1-
-
-
-
1Loss-
COG2-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL12A1-
-
-
-
1Loss-
COL18A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL5A3-
-
-
-
1Loss-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL6A3p.R2202Q
Missense
SNP
0.500
2--
COL7A1-
-
-
-
1Loss-
COL9A1-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COMP-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPE-
-
-
-
1Loss-
COPG1p.R859T
Missense
SNP
0.475
2--
COPS3-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COQ5-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COQ8B-
-
-
-
0Del-
COQ9-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX6A1-
-
-
-
1Loss-
COX6B1-
-
-
-
3Gain-
COX6B2-
-
-
-
1Loss-
COX7A1-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPSF4L-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
1Loss-
CRACR2B-
-
-
-
5Amp-
CRB1-
-
-
-
3Gain-
CRB3-
-
-
-
1Loss-
CRCP-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREBL2-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRELD2-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSTB-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSD-
-
-
-
5Amp-
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
0Del-
CX3CL1-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R3-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYLD-
-
-
-
1Loss-
CYP21A2-
-
-
-
0Del-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
0Del-
CYP2A7-
-
-
-
0Del-
CYP2B6-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCLK3-
-
-
-
1Loss-
DCP1B-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCTN6-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX11-
-
-
-
0Del-
DDX17-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX43-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX51-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEDD2-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND1C-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4Cp.S1896G
Missense
SNP
0.480
2--
DENND5B-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DENR-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DHDDSp.H199D
Missense
SNP
0.507
2--
DHODH-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS7B-
-
-
-
3Gain-
DHRS7C-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX37-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIABLO-
-
-
-
1Loss-
DIP2A-
-
-
-
1Loss-
DIRAS1-
-
-
-
0Del-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP2-
-
-
-
1Loss-
DLL3-
-
-
-
1Loss-
DMAC2-
-
-
-
1Loss-
DMBT1p.S2258F
Missense
SNP
0.450
2--
DMC1-
-
-
-
1Loss-
DMKN-
-
-
-
3Gain-
DMPK-
-
-
-
1Loss-
DMRTC2-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMWD-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF3-
-
-
-
1Loss-
DNAH10-
-
-
-
1Loss-
DNAH14-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAI2-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB7-
-
-
-
1Loss-
DNAJC21p.F158L
Missense
SNP
0.474
2--
DNAJC28-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DNM1L-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMT1-
-
-
-
1Loss-
DNMT3L-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPPA5-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNAp.C258*
Nonsense
SNP
0.477
2--
DTX1-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27-
-
-
-
3Gain-
DUSP4-
-
-
-
1Loss-
DUSP8-
-
-
-
5Amp-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNLL1-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYRK1B-
-
-
-
0Del-
DYRK3-
-
-
-
3Gain-
DYRK4-
-
-
-
1Loss-
DYSFp.S1069N
Missense
SNP
0.466
2--
E2F4-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
ECH1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECSIT-
-
-
-
1Loss-
EDARp.A404T
Missense
SNP
0.437
2--
EDARADD-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EEF1A1-
-
-
-
0Del-
EEF2-
-
-
-
1Loss-
EFCAB2-
-
-
-
3Gain-
EFCAB6-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EGLN1-
-
-
-
3Gain-
EGLN2-
-
-
-
0Del-
EGR3-
-
-
-
1Loss-
EID2-
-
-
-
1Loss-
EID2B-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2AK1p.E500*
Nonsense
SNP
0.409
2--
EIF2B1-
-
-
-
1Loss-
EIF2D-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3K-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
0Del-
ELAVL3-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELFN2-
-
-
-
1Loss-
ELK4-
-
-
-
3Gain-
ELL-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELMSAN1p.Q60*
Nonsense
SNP
0.418
2--
ELOF1-
-
-
-
0Del-
ELOVL4-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMG1-
-
-
-
1Loss-
EMID1p.E163K
Missense
SNP
0.946
1Loss-
EML2-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
ENAHp.S305*
Nonsense
SNP
0.342
3Gain-
ENKD1-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EP400-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPRS-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC6L2p.S571L
Missense
SNP
0.472
2--
ERF-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH4-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERV3-1-
-
-
-
0Del-
ERVV-1-
-
-
-
0Del-
ERVV-2-
-
-
-
0Del-
ESCO2-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ETFBKMT-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETS2-
-
-
-
1Loss-
ETV2-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV6-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVLp.P249L
Missense
SNP
0.492
2--
EVPL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC3L2-
-
-
-
1Loss-
EXOC7-
-
-
-
1Loss-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC5-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2RL3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FA2H-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP1p.E103K
Missense
SNP
0.480
2--
FADS6-
-
-
-
1Loss-
FAHD2A-
-
-
-
0Del-
FAM104A-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM129C-
-
-
-
1Loss-
FAM135A-
-
-
-
1Loss-
FAM153B-
-
-
-
0Del-
FAM160B2-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM167A-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM178Bp.T39M
Missense
SNP
0.469
2--
FAM187B-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM192A-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM207A-
-
-
-
1Loss-
FAM20B-
-
-
-
3Gain-
FAM227A-
-
-
-
1Loss-
FAM234B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM240B-
-
-
-
0Del-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71E2-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
0Del-
FAM89A-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FAM95C-
-
-
-
0Del-
FAM98C-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FAT3p.A3198V
Missense
SNP
0.459
2--
FBF1-
-
-
-
1Loss-
FBL-
-
-
-
0Del-
FBLN1-
-
-
-
1Loss-
FBN1p.S2563C
Missense
SNP
0.435
2--
FBN3-
-
-
-
0Del-
FBRSL1-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO17-
-
-
-
1Loss-
FBXO21-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO27-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO3p.S84C
Missense
SNP
0.490
2--
FBXO31-
-
-
-
1Loss-
FBXO38p.R929H
Missense
SNP
0.483
2--
FBXO39-
-
-
-
1Loss-
FBXO46-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXW10-
-
-
-
0Del-
FBXW12-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCAR-
-
-
-
1Loss-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCER2-
-
-
-
1Loss-
FCGBP-
-
-
-
0Del-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
0Del-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO1-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDX2-
-
-
-
1Loss-
FDXR-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FFAR1-
-
-
-
3Gain-
FFAR2-
-
-
-
3Gain-
FFAR3-
-
-
-
3Gain-
FGD4-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHOD1-
-
-
-
1Loss-
FHOD3p.V312L
Missense
SNP
0.508
2--
FILIP1-
-
-
-
1Loss-
FIS1p.G141E
Missense
SNP
0.448
2--
FIZ1-
-
-
-
1Loss-
FKBP4-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLII-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNTA-
-
-
-
1Loss-
FOSB-
-
-
-
1Loss-
FOXA2p.A352T
Missense
SNP
0.611
2--
FOXA3-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXJ1-
-
-
-
1Loss-
FOXJ2-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXM1-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FRS2p.E430Q
Missense
SNP
0.569
2--
FSD1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FXYD1-
-
-
-
3Gain-
FXYD3-
-
-
-
3Gain-
FXYD5-
-
-
-
3Gain-
FXYD7-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FZD10-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZD9p.E72K
Missense
SNP
0.421
2--
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G2E3p.X212_splice
Splice_Site
SNP
0.500
2--
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABPA-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1p.D84H
Missense
SNP
0.462
2--
GADD45B-
-
-
-
0Del-
GADD45GIP1-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GALK1-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALNT8-
-
-
-
1Loss-
GALNT9-
-
-
-
1Loss-
GALP-
-
-
-
1Loss-
GALR2-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAPDHS-
-
-
-
3Gain-
GART-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATC-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBE1p.R166H
Missense
SNP
0.182
2--
GCAT-
-
-
-
1Loss-
GCC1p.R662H
Missense
SNP
0.162
2--
GCDH-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGA3-
-
-
-
1Loss-
GGN-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GJA5p.V100A
Missense
SNP
0.319
3Gain-
GJA8-
-
-
-
3Gain-
GJB7-
-
-
-
1Loss-
GJC2-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLP2R-
-
-
-
1Loss-
GLRA2p.R423Q
Missense
SNP
0.493
NDND-
GLRX2-
-
-
-
3Gain-
GLT1D1-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GNA11p.S225F
Missense
SNP
1.000
0Del-
GNA15-
-
-
-
0Del-
GNAI2-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNG7-
-
-
-
0Del-
GNG8-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GNRH1-
-
-
-
1Loss-
GOLGA3-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGA8B-
-
-
-
0Del-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP6-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAT2-
-
-
-
0Del-
GPAT4-
-
-
-
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPI-
-
-
-
3Gain-
GPM6Ap.D116N
Missense
SNP
0.514
2--
GPR108-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR142-
-
-
-
1Loss-
GPR156p.E722K
Missense
SNP
0.416
2--
GPR161-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5C-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD1A-
-
-
-
3Gain-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
0Del-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
0Del-
GRB2-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRIA3p.F408L
Missense
SNP
0.520
NDND-
GRIK1-
-
-
-
1Loss-
GRIK5-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN2C-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSG1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTA1-
-
-
-
0Del-
GSTA3-
-
-
-
0Del-
GSTA5-
-
-
-
0Del-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GUCD1-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H3F3B-
-
-
-
1Loss-
H3F3C-
-
-
-
1Loss-
HAMP-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAPLN4-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAUS5-
-
-
-
3Gain-
HAUS8-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HCST-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC7p.R501P
Missense
SNP
0.485
2--
HDGF-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HECAp.A301T
Missense
SNP
0.124
2--
HECTD4-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HID1-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HINFPp.E441Q
Missense
SNP
0.568
2--
HIP1R-
-
-
-
1Loss-
HIPK2p.A1175T
Missense
SNP
0.311
2--
HIPK4-
-
-
-
0Del-
HIST1H2BFp.D26Y
Missense
SNP
0.524
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIST4H4-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HKR1-
-
-
-
1Loss-
HLCS-
-
-
-
1Loss-
HLX-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HNF1A-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
0Del-
HNRNPCL2-
-
-
-
0Del-
HNRNPCL3-
-
-
-
0Del-
HNRNPCL4-
-
-
-
0Del-
HNRNPL-
-
-
-
1Loss-
HNRNPM-
-
-
-
0Del-
HNRNPU-
-
-
-
3Gain-
HNRNPUL1-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
1Loss-
HOXD8p.R227T
Missense
SNP
0.440
2--
HP-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPN-
-
-
-
3Gain-
HPR-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRK-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD11B1L-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF2BP-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSP90AA1-
-
-
-
0Del-
HSPA13-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPB6-
-
-
-
3Gain-
HSPB8-
-
-
-
1Loss-
HSPBP1-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HUNK-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYDIN-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBTK-
-
-
-
1Loss-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICOSLG-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFI30-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
5Amp-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT27-
-
-
-
1Loss-
IGF1Rp.S240N
Missense
SNP
0.486
2--
IGF2p.V67M
Missense
SNP
0.375
5Amp-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGKV1-33-
-
-
-
0Del-
IGKV1D-33-
-
-
-
0Del-
IGKV2-40-
-
-
-
0Del-
IGKV2D-28-
-
-
-
0Del-
IGKV2D-29-
-
-
-
0Del-
IGKV2D-40-
-
-
-
0Del-
IGSF10p.L2553S
Missense
SNP
0.476
2--
IGSF22p.T385M
p.E209K
Missense
Missense
SNP
SNP
0.465
0.500
2--
IGSF23-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9Bp.R1225C
p.R1182W
Missense
Missense
SNP
SNP
0.554
0.469
2--
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RB-
-
-
-
1Loss-
IL11-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL27RA-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
IMPG2p.V553M
Missense
SNP
0.471
2--
INAVA-
-
-
-
3Gain-
ING4-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INS-
-
-
-
5Amp-
INS-IGF2-
-
-
-
5Amp-
INSL3-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IQCD-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC3-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX5p.S41L
Missense
SNP
0.973
1Loss-
IRX6-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISOC2-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITFG2-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA9-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGB4-
-
-
-
1Loss-
ITIH5p.F156L
Missense
SNP
0.140
2--
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPKC-
-
-
-
0Del-
ITPR3p.R1985H
Missense
SNP
0.505
2--
ITSN1-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IWS1p.M208I
Missense
SNP
0.519
2--
IZUMO4-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JOSD1-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPT1-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
0Del-
KARS-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH1-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ12-
-
-
-
3Gain-
KCNJ15-
-
-
-
1Loss-
KCNJ18-
-
-
-
3Gain-
KCNJ4-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK6-
-
-
-
1Loss-
KCNN1-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
5Amp-
KCNQ5-
-
-
-
1Loss-
KCNT2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD15-
-
-
-
3Gain-
KCTD16p.R335H
Missense
SNP
0.667
2--
KCTD17-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD2-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD7-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELR3-
-
-
-
1Loss-
KDM2B-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM5A-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHSRP-
-
-
-
1Loss-
KIAA0040-
-
-
-
3Gain-
KIAA0355-
-
-
-
3Gain-
KIAA0513-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1551-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIDINS220p.R395*
Nonsense
SNP
0.559
2--
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF19-
-
-
-
1Loss-
KIF1Cp.R768L
Missense
SNP
0.473
2--
KIF21B-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF5Bp.R278*
Nonsense
SNP
0.541
2--
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC3-
-
-
-
1Loss-
KIR2DL1-
-
-
-
1Loss-
KIR2DL3-
-
-
-
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KIRREL2-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL18-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL26-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL42-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KMT2B-
-
-
-
3Gain-
KMT2Cp.H4278N
Missense
SNP
0.548
2--
KMT5A-
-
-
-
1Loss-
KMT5C-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRT6A-
-
-
-
0Del-
KRT6B-
-
-
-
0Del-
KRT6C-
-
-
-
0Del-
KRTAP10-1-
-
-
-
0Del-
KRTAP10-10-
-
-
-
0Del-
KRTAP10-11-
-
-
-
0Del-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
0Del-
KRTAP10-3-
-
-
-
0Del-
KRTAP10-4-
-
-
-
0Del-
KRTAP10-5-
-
-
-
0Del-
KRTAP10-6-
-
-
-
0Del-
KRTAP10-7-
-
-
-
0Del-
KRTAP10-8-
-
-
-
0Del-
KRTAP10-9-
-
-
-
0Del-
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-
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-
KRTAP5-1-
-
-
-
5Amp-
KRTAP5-2-
-
-
-
5Amp-
KRTAP5-3-
-
-
-
5Amp-
KRTAP5-4-
-
-
-
5Amp-
KRTAP5-5-
-
-
-
5Amp-
KRTAP5-6-
-
-
-
5Amp-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KRTDAP-
-
-
-
3Gain-
KSR2-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
L34079.1-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAG3-
-
-
-
1Loss-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LATS1p.E51Q
Missense
SNP
0.437
2--
LAX1-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCA5-
-
-
-
1Loss-
LCA5L-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1Cp.S100L
Missense
SNP
0.431
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LEUTX-
-
-
-
0Del-
LGALS1-
-
-
-
1Loss-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS4-
-
-
-
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9B-
-
-
-
0Del-
LGALS9C-
-
-
-
0Del-
LGI3-
-
-
-
1Loss-
LGI4-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX5-
-
-
-
1Loss-
LHX9-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LILRA1-
-
-
-
1Loss-
LILRA2-
-
-
-
1Loss-
LILRA4-
-
-
-
1Loss-
LILRA5-
-
-
-
1Loss-
LILRA6-
-
-
-
1Loss-
LILRB1-
-
-
-
1Loss-
LILRB2-
-
-
-
1Loss-
LILRB3-
-
-
-
1Loss-
LILRB4-
-
-
-
1Loss-
LILRB5-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMK2-
-
-
-
1Loss-
LIN37-
-
-
-
3Gain-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
0Del-
LINGO3-
-
-
-
0Del-
LINGO4-
-
-
-
3Gain-
LIPE-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
0Del-
LMNTD2-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LONP1-
-
-
-
1Loss-
LONP2p.Y196C
Missense
SNP
0.960
1Loss-
LONRF1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1p.E468K
Missense
SNP
0.488
2--
LOXL2-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPCAT3-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LRCOL1-
-
-
-
1Loss-
LRFN1-
-
-
-
1Loss-
LRFN3-
-
-
-
3Gain-
LRG1-
-
-
-
1Loss-
LRP1Bp.C3456Y
Missense
SNP
0.473
2--
LRP3-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC24p.D490N
Missense
SNP
0.513
2--
LRRC25-
-
-
-
1Loss-
LRRC27p.R169W
Missense
SNP
0.125
2--
LRRC29-
-
-
-
1Loss-
LRRC3-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC43-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC56-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRFIP2-
-
-
-
0Del-
LRRN2-
-
-
-
3Gain-
LRTM2-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM14A-
-
-
-
3Gain-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
0Del-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
5Amp-
LSR-
-
-
-
3Gain-
LSS-
-
-
-
1Loss-
LTBP4-
-
-
-
0Del-
LTBR-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSTp.A3381V
Missense
SNP
0.361
3Gain-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAFF-
-
-
-
1Loss-
MAG-
-
-
-
3Gain-
MAGEE2p.R234Q
Missense
SNP
0.487
NDND-
MAGOHB-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAN2A2p.A602V
Missense
SNP
0.438
2--
MAN2B1-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP1S-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K3p.Q242H
Missense
SNP
0.172
3Gain-
MAP2K4-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K10-
-
-
-
0Del-
MAP3K21-
-
-
-
3Gain-
MAP3K7CL-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH2-
-
-
-
0Del-
MARK1-
-
-
-
3Gain-
MARK4-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
0Del-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBOAT7-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCHR1-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM3AP-
-
-
-
1Loss-
MCM5-
-
-
-
1Loss-
MCM9p.R585C
Missense
SNP
0.512
2--
MCOLN1-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MDC1p.S1353N
Missense
SNP
0.508
2--
MDM4-
-
-
-
3Gain-
ME1-
-
-
-
1Loss-
MED13L-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED29-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF8-
-
-
-
1Loss-
MEI1-
-
-
-
1Loss-
MEI4-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
MEX3A-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD4A-
-
-
-
3Gain-
MFSD5p.S214F
p.S340*
Missense
Nonsense
SNP
SNP
0.502
0.460
2--
MFSD6L-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA-
-
-
-
0Del-
MIA-RAB4B-
-
-
-
0Del-
MIA3-
-
-
-
3Gain-
MICALL1-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIDNp.S340*
Nonsense
SNP
0.580
1Loss-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MIF4GD-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLXIP-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP17-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP23B-
-
-
-
0Del-
MN1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MOB2-
-
-
-
5Amp-
MOB3A-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORC3p.A373T
Missense
SNP
0.154
1Loss-
MORF4L2p.R285H
Missense
SNP
0.538
NDND-
MORN3-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP2p.D311N
Missense
SNP
0.563
2--
MPPED1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MROH1p.V165I
Missense
SNP
0.106
2--
MROH9-
-
-
-
3Gain-
MRPL23-
-
-
-
5Amp-
MRPL24-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL38-
-
-
-
1Loss-
MRPL39-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL51-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL58-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS12-
-
-
-
1Loss-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS35-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRPS7-
-
-
-
1Loss-
MRTFA-
-
-
-
1Loss-
MSI1-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTCL1p.E460K
p.G487S
Missense
Missense
SNP
SNP
0.473
0.388
2--
MTCP1p.H90Y
Missense
SNP
0.463
NDND-
MTFP1-
-
-
-
1Loss-
MTHFSp.R82W
Missense
SNP
0.512
2--
MTHFSD-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR3-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
0Del-
MTR-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MTUS1-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC16-
-
-
-
0Del-
MUC17p.S4059F
Missense
SNP
0.501
2--
MUC2-
-
-
-
5Amp-
MUC5AC-
-
-
-
5Amp-
MUC5B-
-
-
-
5Amp-
MUC6-
-
-
-
5Amp-
MUM1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MYADM-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO1Dp.R350H
Missense
SNP
0.454
2--
MYO1F-
-
-
-
0Del-
MYO6-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
N4BP2p.E1329K
Missense
SNP
0.488
2--
N6AMT1-
-
-
-
1Loss-
NAA25-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT14-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAT9-
-
-
-
1Loss-
NATD1-
-
-
-
3Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEAL2-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
0Del-
NBPF9-
-
-
-
3Gain-
NCAM2-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCCRP1-
-
-
-
1Loss-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCLN-
-
-
-
0Del-
NCOR1-
-
-
-
1Loss-
NCOR2-
-
-
-
1Loss-
NCR1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDC1p.Y69H
Missense
SNP
0.470
2--
NDEL1-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA6-
-
-
-
1Loss-
NDUFA7-
-
-
-
0Del-
NDUFA9-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS4p.X117_splice
Splice_Site
SNP
0.136
2--
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NECAB2-
-
-
-
1Loss-
NECAP1-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO2-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC2p.A335T
Missense
SNP
0.525
2--
NFATC3-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKBIB-
-
-
-
1Loss-
NFKBID-
-
-
-
3Gain-
NFKBIZp.G513*
Nonsense
SNP
0.543
2--
NGLY1-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NICN1-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NINJ2-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NKD1-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLNp.K372N
Missense
SNP
0.462
2--
NLRC5-
-
-
-
1Loss-
NLRP11-
-
-
-
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13-
-
-
-
1Loss-
NLRP2-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8-
-
-
-
1Loss-
NLRP9-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOC4L-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOS1-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH3-
-
-
-
1Loss-
NOVA2-
-
-
-
1Loss-
NPAS1-
-
-
-
1Loss-
NPHS1-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPM2-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C2AP-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRIP2-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NSD1p.S356F
Missense
SNP
0.714
2--
NSD3-
-
-
-
1Loss-
NSG1p.V101A
Missense
SNP
0.506
2--
NSL1-
-
-
-
3Gain-
NT5C-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUGGC-
-
-
-
1Loss-
NUMBL-
-
-
-
0Del-
NUP133-
-
-
-
3Gain-
NUP210Lp.M1537I
Missense
SNP
0.414
3Gain-
NUP50-
-
-
-
1Loss-
NUP85-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUP98p.D1234H
Missense
SNP
0.522
2--
NUPR2-
-
-
-
0Del-
NUTF2-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAZ1-
-
-
-
0Del-
OAZ3-
-
-
-
3Gain-
OBSCNp.D6553N
Missense
SNP
0.276
3Gain-
OCEL1-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGFOD1-
-
-
-
1Loss-
OGFOD2-
-
-
-
1Loss-
OGFRL1-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
OLR1-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPCMLp.D207Y
Missense
SNP
0.591
2--
OPN3-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR12D3p.S158C
Missense
SNP
0.500
2--
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1E1-
-
-
-
0Del-
OR1E2-
-
-
-
0Del-
OR1I1-
-
-
-
1Loss-
OR1L6p.R160H
Missense
SNP
0.415
2--
OR1M1-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2G2p.R175H
Missense
SNP
0.279
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR2Z1-
-
-
-
0Del-
OR3A1-
-
-
-
0Del-
OR3A3-
-
-
-
0Del-
OR4F17-
-
-
-
1Loss-
OR4M2-
-
-
-
0Del-
OR4N4-
-
-
-
0Del-
OR56B4p.A269T
Missense
SNP
0.498
2--
OR5B21p.D189N
Missense
SNP
0.417
2--
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORC3-
-
-
-
1Loss-
ORC6-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSCAR-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSM-
-
-
-
1Loss-
OTOP2-
-
-
-
1Loss-
OTOP3-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OVOL3-
-
-
-
3Gain-
OXGR1p.R148G
Missense
SNP
0.509
2--
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
P2RX2-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P3H3-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PAF1-
-
-
-
1Loss-
PAFAH1B3-
-
-
-
1Loss-
PAK4-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARD6A-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP11-
-
-
-
1Loss-
PARP14p.R350H
Missense
SNP
0.525
2--
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBX4-
-
-
-
1Loss-
PBXIP1-
-
-
-
3Gain-
PCBP3-
-
-
-
1Loss-
PCDHB14p.D443N
Missense
SNP
0.530
2--
PCM1-
-
-
-
1Loss-
PCNT-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCP2-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD2L-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6H-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM3p.A63T
Missense
SNP
0.500
2--
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDXK-
-
-
-
1Loss-
PDXP-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZRN3p.L902M
Missense
SNP
0.495
2--
PEA15-
-
-
-
3Gain-
PEAK3-
-
-
-
0Del-
PEAR1-
-
-
-
3Gain-
PEBP1-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PEPD-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX11G-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX5-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PGAM5-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM3-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF3-
-
-
-
2-PHF3--PNRC1
PHF5A-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLDB3-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PI4K2Ap.Q378*
Nonsense
SNP
0.475
2--
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIDD1-
-
-
-
5Amp-
PIEZO1-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGP-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIK3AP1p.A277T
Missense
SNP
0.462
2--
PIK3C2B-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1Bp.Q312H
Missense
SNP
0.633
2--
PIP5K1Cp.R304W
Missense
SNP
0.139
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKN1-
-
-
-
1Loss-
PKNOX1-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PKP2-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLA2G6-
-
-
-
1Loss-
PLAT-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCG2-
-
-
-
1LossAL669831.3--PLCG2
PLD3-
-
-
-
0Del-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHF1-
-
-
-
1Loss-
PLEKHG2-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG6-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PM20D1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNMA2-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA2-
-
-
-
5Amp-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNRC1-
-
-
-
2-PHF3--PNRC1
PODNL1-
-
-
-
1Loss-
POFUT2-
-
-
-
1Loss-
POGK-
-
-
-
3Gain-
POGZp.R610W
Missense
SNP
0.357
3Gain-
POLB-
-
-
-
1Loss-
POLDIP3-
-
-
-
1Loss-
POLE-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2I-
-
-
-
3Gain-
POLR2L-
-
-
-
5Amp-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POP4-
-
-
-
1Loss-
POP5-
-
-
-
1Loss-
POTEB-
-
-
-
0Del-
POTEB2-
-
-
-
0Del-
POTEC-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU2F2-
-
-
-
1Loss-
POU4F2p.S27W
Missense
SNP
0.518
2--
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPFIBP1-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R12C-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R37-
-
-
-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP1R9Ap.E530Q
Missense
SNP
0.508
2--
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP3CC-
-
-
-
1Loss-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6R1-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PPWD1p.V638I
Missense
SNP
0.440
2--
PRAG1-
-
-
-
1Loss-
PRAM1-
-
-
-
0Del-
PRAMEF1-
-
-
-
0Del-
PRAMEF18-
-
-
-
0Del-
PRAMEF19-
-
-
-
0Del-
PRAMEF2-
-
-
-
0Del-
PRAMEF20-
-
-
-
0Del-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDX2-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRKAB1-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACA-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKD2-
-
-
-
1Loss-
PRMT2-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT8-
-
-
-
1Loss-
PRODH2-
-
-
-
3Gain-
PROS1-
-
-
-
0Del-
PROSER3-
-
-
-
3Gain-
PROX1-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF31-
-
-
-
1Loss-
PRPSAP1-
-
-
-
1Loss-
PRPSAP2-
-
-
-
0Del-
PRR14L-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR33-
-
-
-
5Amp-
PRR36-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2Cp.S2295L
Missense
SNP
0.352
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS35-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRX-
-
-
-
0Del-
PSD3-
-
-
-
1Loss-
PSD4p.G1001V
Missense
SNP
0.514
2--
PSEN2-
-
-
-
3Gain-
PSENEN-
-
-
-
3Gain-
PSG1-
-
-
-
0Del-
PSG11-
-
-
-
0Del-
PSG2-
-
-
-
0Del-
PSG3-
-
-
-
0Del-
PSG4-
-
-
-
0Del-
PSG5-
-
-
-
0Del-
PSG6-
-
-
-
0Del-
PSG7-
-
-
-
0Del-
PSG8-
-
-
-
0Del-
PSG9-
-
-
-
0Del-
PSKH1-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMC4-
-
-
-
0Del-
PSMD13-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSMD9-
-
-
-
1Loss-
PSMG1-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGIR-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTK2B-
-
-
-
1Loss-
PTMS-
-
-
-
1Loss-
PTPN11-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN21p.Q407*
Nonsense
SNP
0.489
2--
PTPN23-
-
-
-
1Loss-
PTPN6-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRH-
-
-
-
1Loss-
PTPRO-
-
-
-
1Loss-
PTPRSp.R1026C
Missense
SNP
0.105
1Loss-
PTTG1IP-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS1-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PVR-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PXMP2-
-
-
-
1Loss-
PXN-
-
-
-
1Loss-
PYCR2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PZP-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QRICH2-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
QTRT1-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
0Del-
RAB11FIP1-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB35-
-
-
-
1Loss-
RAB37-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB3IPp.S44L
Missense
SNP
0.446
2--
RAB4A-
-
-
-
3Gain-
RAB4B-
-
-
-
0Del-
RAB4B-EGLN2-
-
-
-
0Del-
RAB8A-
-
-
-
1Loss-
RABAC1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
1Loss-
RABIF-
-
-
-
3Gain-
RABL2B-
-
-
-
1Loss-
RABL3p.E205*
Nonsense
SNP
0.430
2--
RAC2-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD51AP1-
-
-
-
1Loss-
RAD52-
-
-
-
1Loss-
RAF1p.E174K
Missense
SNP
0.538
2--
RAI1-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RAN-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASAL1-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASGRP4-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RBBP5-
-
-
-
3Gain-
RBFOX2-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM19-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM42-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RBSNp.A605V
Missense
SNP
0.538
2--
RBX1-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCAN1-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RDH13-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
REN-
-
-
-
3Gain-
REP15-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
RFC5-
-
-
-
1Loss-
RFLNA-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFPL4A-
-
-
-
1Loss-
RFPL4AL1-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFXANK-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL3-
-
-
-
1Loss-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHNO1-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOUp.A221T
Missense
SNP
0.297
3Gain-
RHPN2-
-
-
-
1Loss-
RIBC2-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIMS1-
-
-
-
1Loss-
RINL-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIPPLY2-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RITA1-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNF10-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF157-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF185-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF215-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF34-
-
-
-
1Loss-
RNFT2-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1L1-
-
-
-
1Loss-
RP5-862P8.2p.R4W
Missense
SNP
0.387
NDND-
RPGRIP1L-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL36-
-
-
-
1Loss-
RPL38-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPLP0-
-
-
-
1Loss-
RPLP2-
-
-
-
5Amp-
RPRD2-
-
-
-
3Gain-
RPS15-
-
-
-
1Loss-
RPS16-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS28-
-
-
-
0Del-
RPS6KC1-
-
-
-
3Gain-
RPS9-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPTORp.R813T
Missense
SNP
0.522
2--
RRAD-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP1-
-
-
-
1Loss-
RRP15-
-
-
-
3Gain-
RRP1B-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RSPH1-
-
-
-
1Loss-
RSPH6A-
-
-
-
1Loss-
RSPRY1-
-
-
-
1Loss-
RSRC2-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN2-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RWDD2A-
-
-
-
1Loss-
RWDD2B-
-
-
-
1Loss-
RXFP3p.A168T
p.P464L
Missense
Missense
SNP
SNP
0.438
0.105
2--
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR1-
-
-
-
1Loss-
RYR2-
-
-
-
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100B-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
0Del-
S1PR5-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD4B-
-
-
-
1Loss-
SAMD9Lp.G1418E
Missense
SNP
0.528
2--
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARS2-
-
-
-
1Loss-
SASH3p.A127V
Missense
SNP
0.489
NDND-
SAT2-
-
-
-
1Loss-
SBDS-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3-
-
-
-
1Loss-
SBNO1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SBSN-
-
-
-
3Gain-
SCAF4-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARB1-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCGB1C1-
-
-
-
1Loss-
SCGB2B2-
-
-
-
3Gain-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1B-
-
-
-
3Gain-
SCN5A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE1-
-
-
-
1Loss-
SCX-
-
-
-
0Del-
SCYL3-
-
-
-
3Gain-
SDCCAG8p.K429N
Missense
SNP
0.313
3Gain-
SDE2-
-
-
-
3Gain-
SDHAF1-
-
-
-
3Gain-
SDHAF4-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDK2-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOM-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOV-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA6Bp.R72W
Missense
SNP
0.481
1Loss-
SEMA6C-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP6-
-
-
-
1Loss-
SEPP1p.Q39*
Nonsense
SNP
0.478
NDND-
SEPT3-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERTAD1-
-
-
-
0Del-
SERTAD3-
-
-
-
0Del-
SERTAD4-
-
-
-
3Gain-
SETD1B-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFSWAP-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTPC-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTA-
-
-
-
0Del-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D3A-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA7-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHKBP1-
-
-
-
0Del-
SHMT1-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIM1p.T481M
p.A173T
Missense
Missense
SNP
SNP
0.477
0.524
2--
SIM2-
-
-
-
1Loss-
SIMC1-
-
-
-
0Del-
SIN3B-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT4-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC15A4-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A5-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC17A5-
-
-
-
0Del-
SLC18A1-
-
-
-
1Loss-
SLC19A1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A5-
-
-
-
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A19-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
5Amp-
SLC25A23-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A9-
-
-
-
3Gain-
SLC27A1-
-
-
-
1Loss-
SLC27A2p.E166K
Missense
SNP
0.481
2--
SLC27A3-
-
-
-
3Gain-
SLC2A14-
-
-
-
1Loss-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC35A1-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E2B-
-
-
-
0Del-
SLC35E4-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC37A1-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A5p.G242R
Missense
SNP
0.447
NDND-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A3p.V159M
Missense
SNP
0.956
0Del-
SLC41A1-
-
-
-
3Gain-
SLC44A2-
-
-
-
1Loss-
SLC45A3-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
0Del-
SLC5A3-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A3R1-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9C2p.E28Q
Missense
SNP
0.361
3Gain-
SMAP1-
-
-
-
1Loss-
SMARCA1p.R448*
Nonsense
SNP
0.556
NDND-
SMARCA4-
-
-
-
1Loss-
SMARCAD1p.S214L
Missense
SNP
0.508
2--
SMARCC1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMG9-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAP91-
-
-
-
1Loss-
SNAPC2-
-
-
-
0Del-
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP35-
-
-
-
1Loss-
SNRPA-
-
-
-
0Del-
SNRPD2-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNRPE-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNX14-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOD1-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPATA17-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA31D1-
-
-
-
0Del-
SPATA31D3-
-
-
-
0Del-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5p.L134F
Missense
SNP
0.494
2--
SPATA6p.Q180*
Nonsense
SNP
0.455
2--
SPATC1L-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHK1-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINT2-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPPL2B-
-
-
-
0Del-
SPPL3-
-
-
-
1Loss-
SPRED3-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPSB2-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTBN4-
-
-
-
0Del-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
0Del-
SRP68-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRRD-
-
-
-
1Loss-
SRRM4-
-
-
-
1Loss-
SRRM5-
-
-
-
1Loss-
SRSF9-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSC5D-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSTR2-
-
-
-
1Loss-
SSTR3-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK26p.D117N
Missense
SNP
0.509
NDND-
STMN4-
-
-
-
1Loss-
STRC-
-
-
-
0Del-
STRN4-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX10-
-
-
-
1Loss-
STX2-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUDS3-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUMO2-
-
-
-
1Loss-
SUMO3-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUPT5H-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SWSAP1-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYCE1L-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCN-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYMPK-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNE4-
-
-
-
3Gain-
SYNGR1-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNMp.P677H
Missense
SNP
0.577
2--
SYNPO2p.E26K
Missense
SNP
0.486
2--
SYT10-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT5-
-
-
-
1Loss-
SYT8-
-
-
-
5Amp-
TAB1-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAOK3-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARM1-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TBC1D10A-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D24p.Q304H
Missense
SNP
0.415
2--
TBC1D26-
-
-
-
0Del-
TBC1D28-
-
-
-
0Del-
TBCB-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBX18-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCF20-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF7L2p.R71C
Missense
SNP
0.413
2--
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEAD3p.Q141*
Nonsense
SNP
0.173
2--
TEAD4-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3p.L309V
Missense
SNP
0.903
1Loss-
TEN1-
-
-
-
1Loss-
TEN1-CDK3-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TESC-
-
-
-
1Loss-
TEX101-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX45-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TEX52-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFIP11-
-
-
-
1Loss-
TFPT-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
0Del-
TGIF2LXp.R107C
Missense
SNP
0.500
NDND-
TGM1p.G218C
Missense
SNP
0.549
2--
TGM4-
-
-
-
1Loss-
TH-
-
-
-
5Amp-
THAP1-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP8-
-
-
-
3Gain-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THOC3-
-
-
-
0Del-
THOC5-
-
-
-
1Loss-
THOP1-
-
-
-
0Del-
TIAM1-
-
-
-
1Loss-
TIAM2p.R131K
Missense
SNP
0.467
2--
TICAM1-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIMM13-
-
-
-
0Del-
TIMM17A-
-
-
-
3Gain-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
0Del-
TIMM50-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TJP3-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE2-
-
-
-
0Del-
TLE6-
-
-
-
0Del-
TLE7-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TM2D2-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMC4-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMED1-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
3Gain-
TMEM115-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM120B-
-
-
-
1Loss-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132D-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM147-
-
-
-
3Gain-
TMEM150B-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184B-
-
-
-
1Loss-
TMEM190-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM211-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM238-
-
-
-
1Loss-
TMEM248-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM52B-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM81-
-
-
-
3Gain-
TMEM86B-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMEM91-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS9-
-
-
-
0Del-
TNFAIP6p.R172H
Missense
SNP
0.558
2--
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNFSF9-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2p.R250Q
Missense
SNP
0.539
2--
TNKS-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNI2-
-
-
-
5Amp-
TNNI3-
-
-
-
1Loss-
TNNT1-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNNT3-
-
-
-
5Amp-
TNPO2-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TNXB-
-
-
-
0Del-
TOB2-
-
-
-
1Loss-
TOLLIP-
-
-
-
5Amp-
TOM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM22-
-
-
-
1Loss-
TOMM40-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53BP1p.R540T
Missense
SNP
0.564
2--
TP53BP2-
-
-
-
3Gain-
TPBG-
-
-
-
1Loss-
TPCN1-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPM4-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPST1-
-
-
-
1Loss-
TPST2-
-
-
-
1Loss-
TPTE-
-
-
-
0Del-
TPTE2-
-
-
-
0Del-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRABD-
-
-
-
1Loss-
TRADDp.R239Q
Missense
SNP
0.967
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAFD1-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC4p.I193M
Missense
SNP
0.429
2--
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRIAP1-
-
-
-
1Loss-
TRIM11-
-
-
-
3Gain-
TRIM16-
-
-
-
0Del-
TRIM16L-
-
-
-
0Del-
TRIM17-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM43-
-
-
-
0Del-
TRIM43B-
-
-
-
0Del-
TRIM46-
-
-
-
3Gain-
TRIM47-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM65-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT9B-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPM2-
-
-
-
1Loss-
TRPM5-
-
-
-
5Amp-
TRPV2-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN34-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN32-
-
-
-
5Amp-
TSPAN4-
-
-
-
5Amp-
TSPAN9-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSSC4-
-
-
-
5Amp-
TSSK6-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC24-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC9B-
-
-
-
0Del-
TTI2-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTNp.K31850N
Missense
SNP
0.468
2--
TTYH1-
-
-
-
1Loss-
TTYH2-
-
-
-
1Loss-
TUBA3C-
-
-
-
0Del-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP3-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TVP23B-
-
-
-
0Del-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TXN2-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL4B-
-
-
-
1Loss-
TYK2p.Q816*
Nonsense
SNP
0.500
1Loss-
TYMP-
-
-
-
1Loss-
TYROBP-
-
-
-
3Gain-
TYW1-
-
-
-
1Loss-
U2AF1-
-
-
-
1Loss-
U2AF1L4-
-
-
-
3Gain-
U2AF1L5-
-
-
-
1Loss-
U2AF2-
-
-
-
1Loss-
UAP1-
-
-
-
3Gain-
UBA2-
-
-
-
3Gain-
UBA52-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBALD2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2O-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2S-
-
-
-
1Loss-
UBE2T-
-
-
-
3Gain-
UBE3D-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNLp.Q13H
Missense
SNP
0.487
2--
UBXN6-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UGT2A3-
-
-
-
0Del-
UGT2B10-
-
-
-
0Del-
UGT2B11-
-
-
-
0Del-
UGT2B15-
-
-
-
0Del-
UGT2B17-
-
-
-
0Del-
UGT2B28-
-
-
-
0Del-
UGT2B4-
-
-
-
0Del-
UGT2B7-
-
-
-
0Del-
UHMK1-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMODL1-
-
-
-
1Loss-
UNC119B-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC13D-
-
-
-
1Loss-
UNC5Bp.G287D
Missense
SNP
0.474
2--
UNC5D-
-
-
-
1Loss-
UNK-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPK1A-
-
-
-
3Gain-
UPK3A-
-
-
-
1Loss-
UQCR10-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
URI1-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USF2-
-
-
-
3Gain-
USH1G-
-
-
-
1Loss-
USH2A-
-
-
-
3Gain-
USHBP1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
0Del-
USP25-
-
-
-
1Loss-
USP28p.R324C
Missense
SNP
0.485
2--
USP29-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP4-
-
-
-
1Loss-
VAC14p.R502T
Missense
SNP
1.000
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VASP-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAV1-
-
-
-
1Loss-
VAV2p.A111T
Missense
SNP
0.107
2--
VDAC3-
-
-
-
1Loss-
VEZTp.E317Q
Missense
SNP
0.491
2--
VGLL2p.G212S
Missense
SNP
0.524
2--
VHLL-
-
-
-
3Gain-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VKORC1L1-
-
-
-
0Del-
VMAC-
-
-
-
1Loss-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VPS13Cp.A448T
Missense
SNP
0.471
2--
VPS26C-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS35-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37B-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM1-
-
-
-
1Loss-
VSTM2B-
-
-
-
1Loss-
VWF-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP2-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR4-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR62-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66-
-
-
-
1Loss-
WDR72p.P1073H
Missense
SNP
0.176
2--
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WIZ-
-
-
-
1Loss-
WNK1-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT5B-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WSB2-
-
-
-
1Loss-
WTAPp.X29_splice
Splice_Site
SNP
0.300
2--
WTIP-
-
-
-
3Gain-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR3-
-
-
-
0Del-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YIF1B-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YWHAH-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZACN-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB2p.S283C
Missense
SNP
0.529
2--
ZBTB21-
-
-
-
1Loss-
ZBTB32-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB41-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H18-
-
-
-
1Loss-
ZC3H4-
-
-
-
1Loss-
ZC3H7B-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCCHC8-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFHX4p.H1419Y
p.E2001K
Missense
Missense
SNP
SNP
0.493
0.449
2--
ZFP1-
-
-
-
1Loss-
ZFP14-
-
-
-
3Gain-
ZFP28-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP36-
-
-
-
1Loss-
ZFP82-
-
-
-
3Gain-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFR2-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZIC1p.S316F
Missense
SNP
0.490
2--
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMYM2p.Y683C
Missense
SNP
0.636
2--
ZMYND10-
-
-
-
1Loss-
ZNF10-
-
-
-
1Loss-
ZNF100-
-
-
-
0Del-
ZNF101-
-
-
-
1Loss-
ZNF107-
-
-
-
0Del-
ZNF112-
-
-
-
1Loss-
ZNF117-
-
-
-
0Del-
ZNF121-
-
-
-
1Loss-
ZNF124-
-
-
-
3Gain-
ZNF134-
-
-
-
1Loss-
ZNF136-
-
-
-
0Del-
ZNF138-
-
-
-
0Del-
ZNF14-
-
-
-
1Loss-
ZNF140-
-
-
-
1Loss-
ZNF141-
-
-
-
0Del-
ZNF146-
-
-
-
3Gain-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
0Del-
ZNF208-
-
-
-
0Del-
ZNF211-
-
-
-
1Loss-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF253-
-
-
-
0Del-
ZNF254-
-
-
-
0Del-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
0Del-
ZNF26-
-
-
-
1Loss-
ZNF260-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF273-
-
-
-
0Del-
ZNF276-
-
-
-
1Loss-
ZNF28-
-
-
-
0Del-
ZNF281-
-
-
-
3Gain-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF286A-
-
-
-
0Del-
ZNF286B-
-
-
-
0Del-
ZNF287-
-
-
-
1Loss-
ZNF292-
-
-
-
1Loss-
ZNF296-
-
-
-
1Loss-
ZNF30-
-
-
-
3Gain-
ZNF302-
-
-
-
3Gain-
ZNF304-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF319-
-
-
-
1Loss-
ZNF320-
-
-
-
0Del-
ZNF331-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF345-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF382-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF384-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF404-
-
-
-
1Loss-
ZNF414-
-
-
-
0Del-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF428-
-
-
-
1Loss-
ZNF429-
-
-
-
0Del-
ZNF43-
-
-
-
0Del-
ZNF430-
-
-
-
0Del-
ZNF431-
-
-
-
0Del-
ZNF433-
-
-
-
0Del-
ZNF439-
-
-
-
0Del-
ZNF44-
-
-
-
0Del-
ZNF440-
-
-
-
0Del-
ZNF441-
-
-
-
0Del-
ZNF442-
-
-
-
0Del-
ZNF443-
-
-
-
0Del-
ZNF444-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
1Loss-
ZNF468-
-
-
-
0Del-
ZNF469-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF479-
-
-
-
0Del-
ZNF486-
-
-
-
0Del-
ZNF490-
-
-
-
0Del-
ZNF491-
-
-
-
0Del-
ZNF492-
-
-
-
0Del-
ZNF493-
-
-
-
0Del-
ZNF496-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
0Del-
ZNF519-
-
-
-
1Loss-
ZNF524-
-
-
-
1Loss-
ZNF525-
-
-
-
0Del-
ZNF526-
-
-
-
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF529-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF546-
-
-
-
0Del-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
0Del-
ZNF555-
-
-
-
0Del-
ZNF556-
-
-
-
0Del-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
0Del-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
0Del-
ZNF564-
-
-
-
0Del-
ZNF565-
-
-
-
3Gain-
ZNF566-
-
-
-
1Loss-
ZNF567-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF57-
-
-
-
0Del-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF573-
-
-
-
1Loss-
ZNF574-
-
-
-
1Loss-
ZNF575-
-
-
-
1Loss-
ZNF576-
-
-
-
1Loss-
ZNF578-
-
-
-
0Del-
ZNF579-
-
-
-
1Loss-
ZNF580-
-
-
-
1Loss-
ZNF581-
-
-
-
1Loss-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
0Del-
ZNF595-
-
-
-
0Del-
ZNF596-
-
-
-
1Loss-
ZNF599-
-
-
-
3Gain-
ZNF600-
-
-
-
0Del-
ZNF605-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF611-
-
-
-
0Del-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF624-
-
-
-
1Loss-
ZNF625-
-
-
-
0Del-
ZNF625-ZNF20-
-
-
-
0Del-
ZNF626-
-
-
-
0Del-
ZNF627-
-
-
-
0Del-
ZNF628-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF653-
-
-
-
1Loss-
ZNF66-
-
-
-
0Del-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF664-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
0Del-
ZNF676-
-
-
-
0Del-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
0Del-
ZNF680-
-
-
-
0Del-
ZNF681-
-
-
-
0Del-
ZNF682-
-
-
-
0Del-
ZNF687p.F773S
Missense
SNP
0.267
3Gain-
ZNF69-
-
-
-
0Del-
ZNF692-
-
-
-
3Gain-
ZNF695p.G432A
Missense
SNP
0.318
3Gain-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
0Del-
ZNF701-
-
-
-
0Del-
ZNF703-
-
-
-
1Loss-
ZNF705A-
-
-
-
1Loss-
ZNF708-
-
-
-
0Del-
ZNF709-
-
-
-
0Del-
ZNF71-
-
-
-
1Loss-
ZNF714-
-
-
-
0Del-
ZNF716-
-
-
-
0Del-
ZNF718-
-
-
-
0Del-
ZNF721-
-
-
-
0Del-
ZNF723-
-
-
-
0Del-
ZNF724-
-
-
-
0Del-
ZNF726-
-
-
-
0Del-
ZNF727-
-
-
-
0Del-
ZNF728-
-
-
-
0Del-
ZNF729-
-
-
-
0Del-
ZNF730-
-
-
-
0Del-
ZNF732-
-
-
-
0Del-
ZNF735-
-
-
-
0Del-
ZNF736-
-
-
-
0Del-
ZNF737-
-
-
-
0Del-
ZNF738-
-
-
-
0Del-
ZNF749-
-
-
-
1Loss-
ZNF761-
-
-
-
0Del-
ZNF763-
-
-
-
0Del-
ZNF765-
-
-
-
0Del-
ZNF77-
-
-
-
0Del-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF778-
-
-
-
1Loss-
ZNF780A-
-
-
-
0Del-
ZNF780B-
-
-
-
0Del-
ZNF781-
-
-
-
1Loss-
ZNF784-
-
-
-
1Loss-
ZNF787-
-
-
-
1Loss-
ZNF790-
-
-
-
1Loss-
ZNF791-
-
-
-
0Del-
ZNF792-
-
-
-
3Gain-
ZNF793p.E364Q
Missense
SNP
0.538
1Loss-
ZNF799-
-
-
-
0Del-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
0Del-
ZNF813-
-
-
-
0Del-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
0Del-
ZNF816-ZNF321P-
-
-
-
0Del-
ZNF821-
-
-
-
1Loss-
ZNF823-
-
-
-
0Del-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
0Del-
ZNF835-
-
-
-
1Loss-
ZNF84-
-
-
-
1Loss-
ZNF844-
-
-
-
0Del-
ZNF845-
-
-
-
1Loss-
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
0Del-
ZNF850-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
0Del-
ZNF888-
-
-
-
0Del-
ZNF891-
-
-
-
1Loss-
ZNF90-
-
-
-
0Del-
ZNF91-
-
-
-
0Del-
ZNF92-
-
-
-
0Del-
ZNF93-
-
-
-
0Del-
ZNF98-
-
-
-
0Del-
ZNF99-
-
-
-
0Del-
ZNRF1-
-
-
-
1Loss-
ZNRF3-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM4-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-