HCI-018-PDX-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCA9p.E1454K
Missense
SNP
0.573
2--
ABCB10-
-
-
-
3Gain-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABI3BPp.E1166Q
Missense
SNP
0.460
2--
ABL2-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005779.2-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008687.1-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010327.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011452.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC020922.1-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC074143.1-
-
-
-
1Loss-
AC084121.11-
-
-
-
0Del-
AC084121.12-
-
-
-
0Del-
AC084121.13-
-
-
-
1Loss-
AC084121.5-
-
-
-
0Del-
AC084121.6-
-
-
-
0Del-
AC084121.7-
-
-
-
0Del-
AC084121.8-
-
-
-
0Del-
AC084121.9-
-
-
-
0Del-
AC084337.2-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC092835.2p.R269K
Missense
SNP
0.452
NDND-
AC093668.1-
-
-
-
0Del-
AC093668.2-
-
-
-
0Del-
AC093668.3-
-
-
-
0Del-
AC104151.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC105052.1-
-
-
-
0Del-
AC105052.3-
-
-
-
0Del-
AC112229.3-
-
-
-
0Del-
AC118470.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC126755.2-
-
-
-
0Del-
AC134684.11-
-
-
-
0Del-
AC134684.8-
-
-
-
0Del-
AC134684.9-
-
-
-
0Del-
AC134980.3-
-
-
-
0Del-
AC135068.3-
-
-
-
0Del-
AC243547.3-
-
-
-
3Gain-
AC243756.1-
-
-
-
0Del-
AC245748.1-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACAP3-
-
-
-
1Loss-
ACAT1-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACP2p.M112I
Missense
SNP
0.538
2--
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTR1A-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACVR1p.L470V
Missense
SNP
0.552
2--
ADAD2-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAMTS10-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL3p.X64_splice
Splice_Site
SNP
0.463
2--
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCY10-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGB-
-
-
-
1Loss-
ADGRB3p.Q129K
Missense
SNP
1.000
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADIPOR1-
-
-
-
3Gain-
ADM-
-
-
-
1Loss-
ADM5-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADRA1Dp.R15H
Missense
SNP
0.318
2--
ADRA2A-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
AES-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AGAp.R277T
Missense
SNP
0.482
2--
AGBL3p.P86T
Missense
SNP
0.488
2--
AGMAT-
-
-
-
1Loss-
AGPAT4-
-
-
-
1Loss-
AGRN-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGTRAP-
-
-
-
1Loss-
AHCTF1-
-
-
-
3Gain-
AHDC1-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AHNAKp.S1030F
p.S909*
p.P790S
Missense
Nonsense
Missense
SNP
SNP
SNP
0.481
0.475
0.457
2--
AIDA-
-
-
-
3Gain-
AIG1-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AJAP1-
-
-
-
1Loss-
AK9p.D759N
Missense
SNP
0.769
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKAP9p.E2962K
Missense
SNP
0.529
2--
AKIP1-
-
-
-
1Loss-
AKIRIN2-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1S1-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL049697.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL132671.2-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL135905.2-
-
-
-
1Loss-
AL136454.1-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL159163.1-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL589666.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALDH16A1-
-
-
-
1Loss-
ALDH1A2p.S22L
Missense
SNP
0.470
2--
ALDH4A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG5-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
AMBRA1p.D972N
Missense
SNP
0.469
2--
AMD1-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
ANAPC5p.E166K
Missense
SNP
0.488
2--
ANGEL2-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL4-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL7-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANK3p.H2171Y
Missense
SNP
0.510
2--
ANKK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD13Ap.E486K
Missense
SNP
0.466
2--
ANKRD20A1-
-
-
-
0Del-
ANKRD20A2-
-
-
-
0Del-
ANKRD20A3-
-
-
-
0Del-
ANKRD20A4-
-
-
-
0Del-
ANKRD24-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD36B-
-
-
-
0Del-
ANKRD36C-
-
-
-
0Del-
ANKRD42-
-
-
-
1Loss-
ANKRD45-
-
-
-
3Gain-
ANKRD49-
-
-
-
1Loss-
ANKRD53p.L291I
Missense
SNP
0.484
2--
ANKRD6-
-
-
-
1Loss-
ANKRD65-
-
-
-
1Loss-
ANO7p.D835N
Missense
SNP
0.590
2--
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP2A1-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2S1-
-
-
-
1Loss-
AP3D1p.D41H
Missense
SNP
0.548
1Loss-
AP3S1-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
ARCN1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP31p.T966N
Missense
SNP
0.421
2--
ARHGAP32-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP6p.A893V
Missense
SNP
0.406
NDND-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF17p.E116K
p.S1331C
Missense
Missense
SNP
SNP
0.076
0.527
2--
ARHGEF18-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
1Loss-
ARID1B-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID4Bp.E1296Q
p.E488K
Missense
Missense
SNP
SNP
0.321
0.388
3Gain-
ARL11-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL17A-
-
-
-
0Del-
ARL17B-
-
-
-
0Del-
ARL2BP-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARMH3-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARRDC2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
AS3MT-
-
-
-
1Loss-
ASAH2-
-
-
-
0Del-
ASAP3-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASCL5-
-
-
-
3Gain-
ASF1A-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASH1Lp.E2706K
Missense
SNP
0.279
3Gain-
ASNA1-
-
-
-
1Loss-
ASPDH-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ASXL1p.Q780E
Missense
SNP
0.557
2--
ASXL2p.S84L
Missense
SNP
0.406
2--
ATAD3A-
-
-
-
0Del-
ATAD3B-
-
-
-
0Del-
ATAD3C-
-
-
-
0Del-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF3p.E166K
Missense
SNP
0.317
3Gain-
ATF5-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATF7IP2p.E36K
Missense
SNP
0.498
2--
ATG12-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATG5p.M129I
Missense
SNP
0.973
1Loss-
ATMp.E1428*
Nonsense
SNP
0.895
1Loss-
ATMIN-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP12A-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2A2p.S721C
Missense
SNP
0.402
2--
ATP2B4-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5IF1-
-
-
-
1Loss-
ATP5MD-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
AUNIP-
-
-
-
1Loss-
AURKAIP1-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZU1-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT6-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
BABAM1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAX-
-
-
-
1Loss-
BBC3-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BCAM-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAT2-
-
-
-
1Loss-
BCHEp.S107L
Missense
SNP
0.476
2--
BCKDHB-
-
-
-
1Loss-
BCL2L12-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BECN2-
-
-
-
3Gain-
BEND3-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BICRA-
-
-
-
1Loss-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC8-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMP5-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
0Del-
BORA-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPIFA2p.E159Q
Missense
SNP
0.342
2--
BPNT1-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRSK1-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSPH1-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BSXp.E213K
Missense
SNP
1.000
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTG4-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf57p.E176*
Nonsense
SNP
1.000
NDND-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf48-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf131-
-
-
-
3Gain-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf185p.X41_splice
Splice_Site
SNP
0.333
2--
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QTNF12-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD3p.A1295D
Missense
SNP
0.432
2--
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2orf47p.Q93E
Missense
SNP
0.475
NDND-
C2orf73p.E191Q
Missense
SNP
0.496
2--
C3-
-
-
-
1Loss-
C3orf38p.Q252*
Nonsense
SNP
0.490
2--
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf163-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf58-
-
-
-
1Loss-
C7orf72p.X243_splice
Splice_Site
SNP
0.433
NDND-
C9orf66p.E129K
Missense
SNP
0.055
2--
CA11-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABP5-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1Ep.R924C
Missense
SNP
0.277
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADM4p.Q255H
p.D193N
Missense
Missense
SNP
SNP
0.475
0.478
1Loss-
CALB2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CAMK1Gp.R318S
Missense
SNP
0.323
3Gain-
CAMK2N1-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMSAP2p.D868N
Missense
SNP
0.311
3Gain-
CAMSAP3-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD8-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASKp.K495N
Missense
SNP
0.487
NDND-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP8AP2-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASQ2p.E377*
Nonsense
SNP
0.463
2--
CAST-
-
-
-
1Loss-
CASTOR2-
-
-
-
0Del-
CASZ1-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CAV2p.D37G
Missense
SNP
0.490
2--
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLC-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBWD1-
-
-
-
0Del-
CBWD3-
-
-
-
0Del-
CBWD5-
-
-
-
0Del-
CBWD6-
-
-
-
0Del-
CC2D1A-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC106-
-
-
-
1Loss-
CCDC110p.G603R
Missense
SNP
0.462
2--
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC114-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC154p.X480_splice
Splice_Site
SNP
0.458
2--
CCDC155-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC186-
-
-
-
1Loss-
CCDC190-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC27-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC66p.W292*
Frame_Shift_Del
DEL
0.457
2--
CCDC67p.S166Y
Missense
SNP
1.000
NDND-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC9-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
1Loss-
CCL25-
-
-
-
1Loss-
CCL26-
-
-
-
1Loss-
CCL3L1-
-
-
-
0Del-
CCL4L2-
-
-
-
0Del-
CCNA1-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNL2-
-
-
-
1Loss-
CCR6-
-
-
-
1Loss-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CD109-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD164-
-
-
-
1Loss-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD200R1p.W203C
Missense
SNP
0.442
2--
CD209-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD320-
-
-
-
1Loss-
CD33-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3EAP-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD70-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD96p.L310_D312del
In_Frame_Del
DEL
0.388
2--
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC14Ap.K614N
Missense
SNP
0.526
2--
CDC16-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42EP5-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDH1p.Y754*
Nonsense
SNP
1.000
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH4p.R418Q
Missense
SNP
0.442
2--
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
0Del-
CDK11B-
-
-
-
0Del-
CDK18-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDS2p.E108Q
Missense
SNP
0.435
2--
CDT1-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM6p.P7S
Missense
SNP
0.534
2--
CEACAM8-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF4p.E75K
Missense
SNP
0.571
2--
CELF5-
-
-
-
1Loss-
CEMIPp.L532V
Missense
SNP
0.472
2--
CEND1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPJ-
-
-
-
1Loss-
CENPLp.S9*
Nonsense
SNP
0.333
3Gain-
CENPN-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP126-
-
-
-
1Loss-
CEP131p.G135S
Missense
SNP
0.522
2--
CEP162-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP295-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CEP57-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS4-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP20-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP221p.V323M
Missense
SNP
0.566
2--
CFAP300-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4p.S480L
Missense
SNP
0.157
3Gain-
CFHR5-
-
-
-
3Gain-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGB1-
-
-
-
1Loss-
CGB2-
-
-
-
1Loss-
CGB3-
-
-
-
1Loss-
CGB5-
-
-
-
1Loss-
CGB7-
-
-
-
1Loss-
CGB8-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CHAF1A-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHD1-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD5-
-
-
-
1Loss-
CHD6p.D1670Y
p.E1417K
Missense
Missense
SNP
SNP
0.594
0.536
2--
CHD9-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHIT1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP3p.S86L
Missense
SNP
0.510
2--
CHORDC1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
0Del-
CHRM3-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB3-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CITp.D1076N
Missense
SNP
0.482
2--
CITED2-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLASRP-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLDN20-
-
-
-
1Loss-
CLDN25-
-
-
-
1Loss-
CLDND2-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC2Dp.E15K
Missense
SNP
0.480
2--
CLEC3A-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIC5p.S73F
Missense
SNP
0.491
2--
CLK2-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN6p.L157F
Missense
SNP
0.493
2--
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT3-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN5-
-
-
-
1Loss-
CNTNAP3-
-
-
-
0Del-
CNTNAP3B-
-
-
-
0Del-
CNTNAP3C-
-
-
-
0Del-
CNTNAP4-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL12A1-
-
-
-
1Loss-
COL17A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL21A1-
-
-
-
1Loss-
COL22A1p.E1224*
Nonsense
SNP
0.477
2--
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL5A3-
-
-
-
1Loss-
COL9A1-
-
-
-
1Loss-
COLCA2-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COMMD10-
-
-
-
1Loss-
COMMD4-
-
-
-
0Del-
COMMD6-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPZ2p.A25T
Missense
SNP
0.500
2--
COQ3-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX6B2-
-
-
-
1Loss-
COX7A2-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPLANE2-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPT1C-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CR392000.1p.E2Q
Missense
SNP
0.471
NDND-
CRABP2-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRB3-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREBZF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRX-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBG1-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYBG3p.E2202K
Missense
SNP
0.487
2--
CRYL1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSRNP1p.D58Y
Missense
SNP
0.529
2--
CSRP1-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTNNA3p.Q123*
Nonsense
SNP
0.483
2--
CTNNBIP1-
-
-
-
1Loss-
CTNNBL1p.I393M
Missense
SNP
0.568
2--
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTTNBP2NLp.D38H
Missense
SNP
0.500
2--
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUL5-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CX3CL1-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R2-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYLD-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP4B1p.I410M
Missense
SNP
0.500
2--
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP8B1p.M470I
Missense
SNP
0.489
2--
CYSLTR2-
-
-
-
1Loss-
CYTH2-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBF4Bp.S195C
Missense
SNP
0.516
2--
DBNDD1-
-
-
-
1Loss-
DBP-
-
-
-
1Loss-
DCAF13p.E510K
Missense
SNP
0.457
2--
DCAF15-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCBLD1-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCUN1D2-
-
-
-
1Loss-
DCUN1D5-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDHD1p.D464H
Missense
SNP
0.436
2--
DDI1-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX24p.S144L
Missense
SNP
0.531
2--
DDX25-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX43-
-
-
-
1Loss-
DDX46p.R80Q
Missense
SNP
0.429
2--
DDX49-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEF8-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
0Del-
DEFB104B-
-
-
-
0Del-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
0Del-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
0Del-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
0Del-
DEFB4A-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND1C-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DEUP1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGKH-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHX15p.Q467*
Nonsense
SNP
0.481
2--
DHX34-
-
-
-
1Loss-
DHX37p.E738K
Missense
SNP
0.465
2--
DHX38-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP3-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG2-
-
-
-
1Loss-
DLGAP1p.R331Q
Missense
SNP
0.494
2--
DLL1-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMWD-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF3-
-
-
-
1Loss-
DNAH14p.A2036P
Missense
SNP
0.275
3Gain-
DNAH7p.D2804N
Missense
SNP
0.463
2--
DNAH8p.D76N
p.E1777K
Missense
Missense
SNP
SNP
0.467
0.511
2--
DNAJA2-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC8-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMBP-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNPH1p.S112F
Missense
SNP
0.404
2--
DOCK6-
-
-
-
1Loss-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP2NB-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF3p.S234F
Missense
SNP
0.502
2--
DPM3-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA5-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPYSL2p.N356K
Missense
SNP
0.432
2--
DRAXIN-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSE-
-
-
-
1Loss-
DSG2p.R728K
Missense
SNP
0.400
2--
DST-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP22p.E69K
Missense
SNP
0.174
2--
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP8-
-
-
-
0Del-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1p.S1009T
Missense
SNP
0.931
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
E2F2-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
E2F7p.Q415*
Nonsense
SNP
0.526
2--
EBI3-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECHDC1-
-
-
-
1Loss-
ECHDC2p.R15W
Missense
SNP
0.407
2--
ECM1-
-
-
-
3Gain-
ECSIT-
-
-
-
1Loss-
ECT2L-
-
-
-
1Loss-
EDA2Rp.E115K
Missense
SNP
0.417
NDND-
EDARADD-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDDM13-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDNRB-
-
-
-
1Loss-
EDRF1p.M1091I
Missense
SNP
0.543
2--
EED-
-
-
-
1Loss-
EEF1A1-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EFCAB2-
-
-
-
3Gain-
EFHD2-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EGFLAMp.E614K
Missense
SNP
0.458
2--
EGLN1-
-
-
-
3Gain-
EHD2-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EIF1p.Q37H
Missense
SNP
0.513
2--
EIF2D-
-
-
-
3Gain-
EIF3A-
-
-
-
1Loss-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4G3p.R8C
Missense
SNP
0.992
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
0Del-
ELOA3-
-
-
-
0Del-
ELOA3B-
-
-
-
0Del-
ELOA3C-
-
-
-
0Del-
ELOA3D-
-
-
-
0Del-
ELOF1-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELOVL4-
-
-
-
1Loss-
ELSPBP1-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EML2-
-
-
-
1Loss-
EML5p.S1482L
p.E628Q
Missense
Missense
SNP
SNP
0.462
0.504
2--
EMP3-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENDOD1-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENO2p.R372C
Missense
SNP
0.463
2--
ENO4-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP4p.D246H
Missense
SNP
0.538
2--
ENSA-
-
-
-
3Gain-
ENTPD7-
-
-
-
1Loss-
EPB41-
-
-
-
1Loss-
EPB41L2-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA7-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHX1-
-
-
-
3Gain-
EPHX3-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPRSp.X728_splice
Splice_Site
SNP
0.385
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8p.E769K
Missense
SNP
0.433
2--
EPS8L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERGIC2p.D218Y
Missense
SNP
0.481
2--
ERICH6p.E76Q
Missense
SNP
0.589
2--
ERICH6B-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERVMER34-1p.Q557*
Nonsense
SNP
0.484
2--
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESYT2p.R840T
Missense
SNP
0.437
2--
ETFB-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETS1-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVI2Bp.S130F
Missense
SNP
0.524
2--
EVI5L-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC3L2-
-
-
-
1Loss-
EXOC7p.R102T
Missense
SNP
0.471
2--
EXOC8-
-
-
-
3Gain-
EXOSC10-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EXT2p.V153I
Missense
SNP
0.340
2--
EXTL1-
-
-
-
1Loss-
EXTL3p.Q864K
Missense
SNP
0.471
2--
EYA3-
-
-
-
1Loss-
EYA4p.R360K
Missense
SNP
1.000
1Loss-
EYS-
-
-
-
1Loss-
EZH2p.E125K
Missense
SNP
0.543
2--
EZR-
-
-
-
1Loss-
F10-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2Rp.L403F
Missense
SNP
0.468
2--
F2RL3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FABP7-
-
-
-
1Loss-
FAM110D-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM129C-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM135A-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM184A-
-
-
-
1Loss-
FAM185A-
-
-
-
0Del-
FAM187Bp.R324Q
Missense
SNP
0.496
2--
FAM189B-
-
-
-
3Gain-
FAM192A-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM20B-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM229B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM46Dp.E205K
Missense
SNP
0.504
NDND-
FAM47Ap.E229K
Missense
SNP
0.453
NDND-
FAM71A-
-
-
-
3Gain-
FAM71E1-
-
-
-
1Loss-
FAM71E2-
-
-
-
1Loss-
FAM72A-
-
-
-
3Gain-
FAM72B-
-
-
-
0Del-
FAM72C-
-
-
-
0Del-
FAM72D-
-
-
-
0Del-
FAM76A-
-
-
-
1Loss-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83E-
-
-
-
1Loss-
FAM86B1-
-
-
-
0Del-
FAM86B2-
-
-
-
0Del-
FAM89A-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FAM96Ap.R149Tfs*10
Frame_Shift_Ins
INS
0.317
NDND-
FANCA-
-
-
-
1Loss-
FANCD2p.S564F
Missense
SNP
0.577
2--
FAR1-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAT3p.E834K
Missense
SNP
1.000
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBN2p.E1438K
Missense
SNP
0.440
2--
FBN3-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL4-
-
-
-
1Loss-
FBXL7p.R202Q
Missense
SNP
0.495
2--
FBXL8-
-
-
-
1Loss-
FBXO2-
-
-
-
1Loss-
FBXO24p.L298V
p.S309F
Missense
Missense
SNP
SNP
0.534
0.533
2--
FBXO28-
-
-
-
3Gain-
FBXO30p.G245E
Missense
SNP
0.996
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO46-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXO6-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCAR-
-
-
-
1Loss-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCER2-
-
-
-
1Loss-
FCGBPp.D2556H
Missense
SNP
0.306
2--
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
0Del-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCN3-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FERp.G776E
Missense
SNP
0.984
1Loss-
FERMT3p.I358M
Missense
SNP
0.553
2--
FEZ1-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF21-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGR-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHL5-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FHOD3p.S1520L
Missense
SNP
0.071
2--
FIG4-
-
-
-
1Loss-
FILIP1-
-
-
-
1Loss-
FIZ1-
-
-
-
1Loss-
FKBP1C-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLT3LG-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4p.E130Q
Missense
SNP
0.067
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC10-
-
-
-
0Del-
FNDC3A-
-
-
-
1Loss-
FOLH1-
-
-
-
0Del-
FOSB-
-
-
-
1Loss-
FOXA1p.L439V
Missense
SNP
0.542
2--
FOXA3-
-
-
-
1Loss-
FOXB1p.F102L
Missense
SNP
0.371
2--
FOXC2-
-
-
-
1Loss-
FOXD4-
-
-
-
0Del-
FOXD4L3-
-
-
-
0Del-
FOXD4L4-
-
-
-
0Del-
FOXD4L5-
-
-
-
0Del-
FOXD4L6-
-
-
-
0Del-
FOXF1-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FPGT-TNNI3Kp.M552I
Missense
SNP
0.513
2--
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FREM2p.D1453N
Missense
SNP
1.000
1Loss-
FRKp.S347C
Missense
SNP
1.000
1Loss-
FRMD1-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUT1-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FUZ-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FZD4-
-
-
-
1Loss-
FZD9p.E197K
Missense
SNP
0.469
2--
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABPB2p.E410K
Missense
SNP
0.384
3Gain-
GABRD-
-
-
-
1Loss-
GABRQp.E226K
Missense
SNP
0.462
NDND-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT1p.E416K
Missense
SNP
0.530
2--
GALNT10-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALP-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GAPVD1p.G97A
Missense
SNP
0.463
2--
GARTp.H620Y
Missense
SNP
0.491
2--
GAS6-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GBX1p.G5R
Missense
SNP
0.470
2--
GCDH-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFY-
-
-
-
1Loss-
GGACT-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GGTLC3-
-
-
-
0Del-
GIN1-
-
-
-
1Loss-
GINM1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB2-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GJB7-
-
-
-
1Loss-
GJC1p.E188Q
Missense
SNP
0.555
2--
GJC2-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLUD1p.M168I
Missense
SNP
0.497
2--
GLUL-
-
-
-
3Gain-
GM2A-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNASp.M703I
Missense
SNP
0.531
2--
GNB1-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GOLGA6C-
-
-
-
0Del-
GOLGA6D-
-
-
-
0Del-
GOLGA6L1-
-
-
-
0Del-
GOLGA6L10-
-
-
-
0Del-
GOLGA6L22-
-
-
-
0Del-
GOLGA6L6-
-
-
-
0Del-
GOLGA6L7-
-
-
-
0Del-
GOLGA6L9-
-
-
-
0Del-
GOLGA8F-
-
-
-
0Del-
GOLGA8G-
-
-
-
0Del-
GOLGA8H-
-
-
-
0Del-
GOLGA8J-
-
-
-
0Del-
GOLGA8K-
-
-
-
0Del-
GOLGA8M-
-
-
-
0Del-
GOLGA8N-
-
-
-
0Del-
GOLGA8O-
-
-
-
0Del-
GOLGA8Q-
-
-
-
0Del-
GOLGA8R-
-
-
-
0Del-
GOLGA8S-
-
-
-
0Del-
GOLGA8T-
-
-
-
0Del-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GOPC-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP6-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPATCH2p.D274N
Missense
SNP
0.335
3Gain-
GPATCH3-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR12p.S125F
Missense
SNP
0.972
1Loss-
GPR137B-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR3-
-
-
-
1Loss-
GPR31-
-
-
-
1Loss-
GPR32-
-
-
-
1Loss-
GPR37L1-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR6-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPR89A-
-
-
-
0Del-
GPR89B-
-
-
-
3Gain-
GPRC6A-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHL3-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRIK2-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIN2D-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRM1-
-
-
-
1Loss-
GRM5-
-
-
-
1Loss-
GRM8p.C541F
Missense
SNP
0.431
2--
GRTP1-
-
-
-
1Loss-
GRWD1-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSPT1p.D240H
Missense
SNP
0.463
2--
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H5-
-
-
-
1Loss-
GTF2IRD2-
-
-
-
0Del-
GTF2IRD2B-
-
-
-
0Del-
GTF3A-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTPBP4p.L527F
Missense
SNP
0.519
2--
GUCA1Cp.E132K
Missense
SNP
0.506
2--
GUCY1A2-
-
-
-
1Loss-
GUCY1A3p.E558K
Missense
SNP
0.585
NDND-
GUK1-
-
-
-
3Gain-
GVQW2-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H6PD-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN4-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HDAC2-
-
-
-
1Loss-
HDDC2-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HEY2-
-
-
-
1Loss-
HFM1p.N1388Kfs*8
p.S1338*
Frame_Shift_Ins
Nonsense
INS
SNP
0.284
0.495
2--
HGSNATp.S102F
Missense
SNP
0.494
2--
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HHLA1p.S364F
Missense
SNP
0.532
2--
HIF1AN-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIKESHI-
-
-
-
1Loss-
HINFP-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIP1-
-
-
-
1Loss-
HIST1H1Tp.K113N
Missense
SNP
0.485
2--
HIST1H4Lp.S48L
Missense
SNP
0.450
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
0Del-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCN1p.S2896F
Missense
SNP
0.313
3Gain-
HMG20B-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HNRNPA1L2-
-
-
-
1Loss-
HNRNPA1P48-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
0Del-
HNRNPCL2-
-
-
-
0Del-
HNRNPCL3-
-
-
-
0Del-
HNRNPCL4-
-
-
-
0Del-
HNRNPH2p.Q445*
Nonsense
SNP
0.491
NDND-
HNRNPM-
-
-
-
1Loss-
HNRNPR-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HOMER3-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HOXB13p.K218N
Missense
SNP
0.487
2--
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRC-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST5-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSD11B1p.R269T
Missense
SNP
0.267
3Gain-
HSD11B1L-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF2-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPA9p.A92S
Missense
SNP
0.580
2--
HSPB1-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPBP1-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HSPH1-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HYDIN-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBTK-
-
-
-
1Loss-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICMT-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
IDI1p.R43Q
Missense
SNP
0.432
2--
IER2-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFFO2-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFI30-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT88-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP2p.E346Q
Missense
SNP
0.639
2--
IGF2R-
-
-
-
1Loss-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGKV1-16p.M3I
Missense
SNP
0.477
NDND-
IGKV2D-24p.R86K
Missense
SNP
0.468
NDND-
IGLON5-
-
-
-
1Loss-
IGLV4-69p.S31F
Missense
SNP
0.534
NDND-
IGSF11p.L64F
Missense
SNP
0.500
2--
IGSF21-
-
-
-
1Loss-
IGSF23-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL11-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RCp.L427V
Missense
SNP
0.519
2--
IL18-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL22RA1-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL27RA-
-
-
-
1Loss-
IL2RGp.D35H
Missense
SNP
0.514
NDND-
IL34-
-
-
-
1Loss-
IL4I1-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
1Loss-
ILKp.H33Y
Missense
SNP
1.000
1Loss-
ILVBL-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
ING1-
-
-
-
1Loss-
INPP5Dp.R1159H
Missense
SNP
0.405
2--
INPP5F-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INTS11-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
IPCEF1-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IQCN-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF3-
-
-
-
1Loss-
IRF6-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRS4p.G215A
Missense
SNP
0.477
NDND-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG15-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISOC2-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITGA1p.S1011L
Missense
SNP
0.503
2--
ITGA10-
-
-
-
3Gain-
ITGB7p.R789C
Missense
SNP
0.505
2--
ITGBL1-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
IZUMO1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
1Loss-
IZUMO2-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE1p.H665Y
Missense
SNP
0.500
2--
JAK3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JOSD2-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPH4p.E515K
Missense
SNP
0.491
2--
JRKL-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANSL1p.R1011Q
Missense
SNP
0.557
2--
KARS-
-
-
-
1Loss-
KAT6Bp.E11K
Missense
SNP
0.500
2--
KATNA1-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KCNA5p.S308F
Missense
SNP
0.543
2--
KCNA7-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNC3-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH1-
-
-
-
3Gain-
KCNIP2-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ14-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNK2-
-
-
-
3Gain-
KCNN1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ5-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNT2-
-
-
-
3Gain-
KCTD12-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
1Loss-
KDELR1-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KDM7Ap.S485Y
Missense
SNP
0.442
2--
KEAP1-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS2-
-
-
-
1Loss-
KHKp.S169F
Missense
SNP
0.463
2--
KHSRP-
-
-
-
1Loss-
KIAA0040-
-
-
-
3Gain-
KIAA0355p.K141N
Missense
SNP
0.497
2--
KIAA0408-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0586p.X581_splice
Splice_Site
SNP
0.556
2--
KIAA0825-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1456p.E41K
Missense
SNP
0.500
NDND-
KIAA1524p.E54*
Nonsense
SNP
0.444
NDND-
KIAA1549p.S806L
Missense
SNP
0.468
2--
KIAA1614-
-
-
-
3Gain-
KIAA2012p.R881T
Missense
SNP
0.514
2--
KIAA2013-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF1B-
-
-
-
1Loss-
KIF21Ap.S1261L
Missense
SNP
0.557
2--
KIF21B-
-
-
-
3Gain-
KIF25-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF4B-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC3-
-
-
-
1Loss-
KIR2DL1-
-
-
-
1Loss-
KIR2DL3p.S132L
Missense
SNP
0.176
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1-
-
-
-
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL12-
-
-
-
3Gain-
KLHL17-
-
-
-
1Loss-
KLHL2p.X262_splice
Splice_Site
SNP
0.520
2--
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLK1-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12p.H62N
Missense
SNP
0.652
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK15-
-
-
-
1Loss-
KLK2-
-
-
-
1Loss-
KLK3-
-
-
-
1Loss-
KLK4-
-
-
-
1Loss-
KLK5-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KMOp.N230Y
Missense
SNP
0.331
3Gain-
KMT2A-
-
-
-
1Loss-
KMT5C-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRTAP5-1-
-
-
-
0Del-
KRTAP5-2-
-
-
-
0Del-
KRTAP5-3-
-
-
-
0Del-
KRTAP5-4-
-
-
-
0Del-
KRTAP5-5-
-
-
-
0Del-
KRTAP5-6-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KXD1-
-
-
-
1Loss-
KYNUp.M189I
Missense
SNP
0.566
2--
L34079.1-
-
-
-
1Loss-
L3MBTL3-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LACTBL1-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LAMA2-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LARP1-
-
-
-
1Loss-
LATS1-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LAYN-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1D-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCP1p.E259K
Missense
SNP
1.000
1Loss-
LDB1-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEPRp.E949K
Missense
SNP
0.487
2--
LGALS8-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LGSNp.S198Y
Missense
SNP
0.506
1Loss-
LHB-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIG1-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LILRA1-
-
-
-
1Loss-
LILRA2-
-
-
-
1Loss-
LILRA4-
-
-
-
1Loss-
LILRA5-
-
-
-
1Loss-
LILRA6-
-
-
-
1Loss-
LILRB1-
-
-
-
1Loss-
LILRB2-
-
-
-
1Loss-
LILRB3p.R71T
Missense
SNP
0.382
1Loss-
LILRB4-
-
-
-
1Loss-
LILRB5-
-
-
-
1Loss-
LIM2-
-
-
-
1Loss-
LIMS4-
-
-
-
0Del-
LIN28A-
-
-
-
1Loss-
LIN28B-
-
-
-
1Loss-
LIN7B-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC00630-
-
-
-
NDNDZ68871.1--LINC00630
LINC02203-
-
-
-
0Del-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPE-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LMBRD1-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMTK3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LONP1-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LPA-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRCH3p.L762V
Missense
SNP
0.521
2--
LRG1-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC27p.G521V
Missense
SNP
0.443
2--
LRRC29-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC37A-
-
-
-
0Del-
LRRC37A2-
-
-
-
0Del-
LRRC37A3-
-
-
-
0Del-
LRRC38-
-
-
-
1Loss-
LRRC47-
-
-
-
1Loss-
LRRC4B-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC56-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC8E-
-
-
-
1Loss-
LRRD1p.S791L
Missense
SNP
0.494
2--
LRRN2-
-
-
-
3Gain-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LUZP1-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD4p.L6F
Missense
SNP
0.432
2--
LYPD5-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLA2-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYRM2-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYSTp.G3031S
Missense
SNP
0.383
3Gain-
LYVE1-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MACO1-
-
-
-
1Loss-
MAD2L2-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAGEA8p.D55Y
Missense
SNP
0.394
NDND-
MAGT1p.R117K
Missense
SNP
0.514
NDND-
MAML2-
-
-
-
1Loss-
MAMSTR-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP1S-
-
-
-
1Loss-
MAP2p.D1379N
Missense
SNP
0.492
2--
MAP2K2-
-
-
-
1Loss-
MAP2K3p.S68*
Nonsense
SNP
0.260
2--
MAP2K7-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K6-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP6D1p.P65S
p.S34W
Missense
Missense
SNP
SNP
0.526
0.579
2--
MAP7-
-
-
-
1Loss-
MAPK14p.K295N
Missense
SNP
0.531
2--
MAPKAPK2-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH10p.S431N
Missense
SNP
0.473
2--
MARCH2-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK4-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN2p.E455Q
Missense
SNP
0.455
2--
MAU2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBOAT7-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCHR2-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM3p.S519L
Missense
SNP
0.492
2--
MCM9-
-
-
-
1Loss-
MCMBP-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCOLN3p.H195Y
Missense
SNP
0.409
2--
MCTP1-
-
-
-
1Loss-
MDH2-
-
-
-
1Loss-
MDM4-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MECR-
-
-
-
1Loss-
MED16p.S32L
Missense
SNP
0.574
1Loss-
MED17-
-
-
-
1Loss-
MED18-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED25-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED28p.S168F
Missense
SNP
0.400
2--
MED4-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF6-
-
-
-
1Loss-
MEGF8-
-
-
-
1Loss-
MEI4-
-
-
-
1Loss-
MEIS3-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFN2-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD4A-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MGAp.R1531*
Nonsense
SNP
0.500
2--
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB2-
-
-
-
0Del-
MICAL1-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITD1p.E84Q
Missense
SNP
0.453
2--
MIXL1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MLH1p.R498T
Missense
SNP
0.447
2--
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMEL1-
-
-
-
1Loss-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP23B-
-
-
-
0Del-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMS22L-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNTp.S506C
p.S388C
Missense
Missense
SNP
SNP
0.342
0.647
2--
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MR1-
-
-
-
3Gain-
MRAP2-
-
-
-
1Loss-
MRE11-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MROH2Ap.G916E
Missense
SNP
0.359
2--
MROH9-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL20-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MST1-
-
-
-
0Del-
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-
MTFR1L-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR2-
-
-
-
1Loss-
MTMR3p.E164Q
Missense
SNP
0.549
2--
MTMR6-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTOR-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTRF1-
-
-
-
1Loss-
MTRF1L-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTUS2p.G248E
Missense
SNP
0.093
1Loss-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC12p.S4418L
p.R5124T
Missense
Missense
SNP
SNP
0.312
0.446
2--
MUC16p.S11662L
p.S9609F
Missense
Missense
SNP
SNP
0.543
0.500
1Loss-
MUC2-
-
-
-
1Loss-
MUC4p.S1912*
Nonsense
SNP
0.163
2--
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MX2p.Q650*
Nonsense
SNP
0.591
2--
MXI1-
-
-
-
1Loss-
MXRA8-
-
-
-
1Loss-
MYADM-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBPC2-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYH10p.E1215Q
Missense
SNP
0.485
2--
MYH14-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYLK4p.G50A
Missense
SNP
0.452
2--
MYO15Bp.L2331V
Missense
SNP
0.442
2--
MYO16-
-
-
-
1Loss-
MYO18Ap.E148K
Missense
SNP
0.427
2--
MYO1F-
-
-
-
1Loss-
MYO6-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM3-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
MZT2Ap.E123K
Missense
SNP
0.509
2--
N4BP1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2p.D681N
Missense
SNP
1.000
1Loss-
NAA15p.Q115*
Nonsense
SNP
0.495
2--
NAA16-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NADK-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAGPAp.E409K
Missense
SNP
0.411
2--
NALCN-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NAPSA-
-
-
-
1Loss-
NAT1-
-
-
-
2-NAT1--NATP
NAT14-
-
-
-
1Loss-
NATP-
-
-
-
NDNDNAT1--NATP
NAV1-
-
-
-
3Gain-
NAXD-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
0Del-
NBPF11-
-
-
-
0Del-
NBPF12-
-
-
-
0Del-
NBPF14-
-
-
-
0Del-
NBPF15-
-
-
-
0Del-
NBPF19-
-
-
-
0Del-
NBPF20-
-
-
-
0Del-
NBPF3-
-
-
-
1Loss-
NBPF6-
-
-
-
0Del-
NBPF9-
-
-
-
0Del-
NCAM1-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPHp.D664H
Missense
SNP
0.427
2--
NCF1-
-
-
-
0Del-
NCF2-
-
-
-
3Gain-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA2p.P1435S
Missense
SNP
0.467
2--
NCOA7-
-
-
-
1Loss-
NCR1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDFIP2-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NECAB2-
-
-
-
1Loss-
NECAP2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO2-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIBp.E15K
Missense
SNP
0.457
2--
NFRKB-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NINLp.E129K
Missense
SNP
0.461
2--
NIP7-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPAL4p.D439N
Missense
SNP
0.478
2--
NIT1-
-
-
-
3Gain-
NKAIN2-
-
-
-
1Loss-
NKAPD1-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKG7-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX6-2p.A44T
Missense
SNP
0.524
2--
NLGN1p.D495N
Missense
SNP
0.468
2--
NLRC5-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP11-
-
-
-
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP2-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8-
-
-
-
1Loss-
NLRP9-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NMD3p.E6Q
Missense
SNP
0.291
2--
NME7-
-
-
-
3Gain-
NMNAT1-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOMO1-
-
-
-
0Del-
NOMO2-
-
-
-
0Del-
NOP53-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOSIP-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
0Del-
NOTCH3-
-
-
-
1Loss-
NOVA2-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOX4-
-
-
-
1Loss-
NPAP1p.E452K
Missense
SNP
0.452
2--
NPAS1-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPIPA1-
-
-
-
0Del-
NPIPA2-
-
-
-
0Del-
NPIPA5-
-
-
-
0Del-
NPIPA7-
-
-
-
0Del-
NPIPA8-
-
-
-
0Del-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPM3-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C2AP-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NRXN3p.R79*
Nonsense
SNP
0.515
2--
NSL1-
-
-
-
3Gain-
NSMCE4A-
-
-
-
1Loss-
NT5C1Ap.S288F
Missense
SNP
0.536
2--
NT5C2-
-
-
-
1Loss-
NT5DC1-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NTAN1-
-
-
-
0Del-
NTF4-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN5-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUCB1-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUCKS1p.E114Q
Missense
SNP
0.259
3Gain-
NUDC-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT21-
-
-
-
1Loss-
NUDT4p.E15K
Missense
SNP
0.583
2--
NUDT4B-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP160-
-
-
-
1Loss-
NUP210Lp.G1364R
Missense
SNP
0.408
3Gain-
NUP37p.E121Q
Missense
SNP
0.458
2--
NUP43-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP62-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUS1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ3p.L129F
Missense
SNP
0.343
3Gain-
OBSCNp.Q7660H
Missense
SNP
0.291
3Gain-
OCEL1-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGA-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OGFRL1-
-
-
-
1Loss-
OLA1p.K394N
Missense
SNP
0.474
2--
OLFM2-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML1p.S114L
Missense
SNP
0.994
1Loss-
OLFML2B-
-
-
-
3Gain-
OLIG3-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN3-
-
-
-
3Gain-
OPRD1-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10W1p.D102H
Missense
SNP
0.512
2--
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11H1-
-
-
-
0Del-
OR11H12-
-
-
-
0Del-
OR11H2-
-
-
-
0Del-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1p.R135K
Missense
SNP
0.297
3Gain-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
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-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6p.M245I
Missense
SNP
0.292
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR2Z1-
-
-
-
1Loss-
OR3A3p.S252C
Missense
SNP
0.494
2--
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C12-
-
-
-
0Del-
OR4C13-
-
-
-
0Del-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4F16-
-
-
-
0Del-
OR4F17-
-
-
-
1Loss-
OR4F29-
-
-
-
0Del-
OR4F5-
-
-
-
0Del-
OR4M2-
-
-
-
0Del-
OR4N4-
-
-
-
0Del-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5H2p.M277I
Missense
SNP
0.517
2--
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1p.Q183*
Nonsense
SNP
1.000
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
ORC3-
-
-
-
1Loss-
ORC6-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSCAR-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSTM1-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
PABPC1p.G234A
Missense
SNP
0.490
2--
PABPC3-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAFAH1B3-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK4-
-
-
-
1Loss-
PANO1-
-
-
-
1Loss-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAPD7p.L43F
Missense
SNP
0.455
NDND-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP4-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PAXBP1p.E237K
Missense
SNP
0.442
2--
PBOV1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBX4-
-
-
-
1Loss-
PBXIP1-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCDH17p.S1034L
Missense
SNP
1.000
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA5p.V580M
Missense
SNP
0.538
2--
PCDHA6p.I631M
Missense
SNP
0.424
2--
PCDHB2p.H131Y
Missense
SNP
0.487
2--
PCDHGA1p.E756K
Missense
SNP
0.480
2--
PCDHGB4p.E253Q
Missense
SNP
0.487
2--
PCF11-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCP2-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK4p.S155C
Missense
SNP
0.515
1Loss-
PCSK7-
-
-
-
1Loss-
PCYT2p.D361N
Missense
SNP
0.537
2--
PDC-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDE8Ap.I527M
p.S552C
Missense
Missense
SNP
SNP
0.463
0.459
2--
PDE8Bp.S407*
Nonsense
SNP
0.542
2--
PDF-
-
-
-
1Loss-
PDGFD-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDS5Ap.E240Q
Missense
SNP
0.389
2--
PDS5B-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXDC1-
-
-
-
0Del-
PDZD3-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZK1-
-
-
-
0Del-
PDZRN3p.M1015I
Missense
SNP
0.521
2--
PEA15-
-
-
-
3Gain-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PEG3-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX10-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX11G-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM3-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PGR-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHACTR4-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHF3-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLDB3p.E191K
Missense
SNP
0.427
1Loss-
PHLPP2-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PI15p.S5F
Missense
SNP
0.541
2--
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
1Loss-
PIBF1p.S20F
Missense
SNP
0.997
1Loss-
PICALM-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2p.N1258T
Missense
SNP
0.471
2--
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGR-
-
-
-
3Gain-
PIGV-
-
-
-
1Loss-
PIH1D1-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3CAp.E542K
Missense
SNP
0.472
2--
PIK3CD-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD1P1-
-
-
-
0Del-
PKD2L1-
-
-
-
1Loss-
PKIB-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKN1-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PKP3-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLA2G4C-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLCG2-
-
-
-
1Loss-
PLCH2-
-
-
-
1Loss-
PLD5p.M137I
Missense
SNP
0.296
3Gain-
PLEKHA4-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHA7-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLGLB1-
-
-
-
0Del-
PLGLB2-
-
-
-
0Del-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNCKp.E111K
Missense
SNP
0.500
NDND-
PNISR-
-
-
-
1Loss-
PNKP-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNRC1-
-
-
-
1Loss-
PNRC2-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLD1-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLR1Bp.D848N
Missense
SNP
0.482
2--
POLR1D-
-
-
-
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2J2-
-
-
-
0Del-
POLR2J3-
-
-
-
0Del-
POLR2L-
-
-
-
1Loss-
POLR2Mp.Q125*
Nonsense
SNP
0.520
2--
POLR3Bp.E622Q
Missense
SNP
0.538
2--
POLR3C-
-
-
-
3Gain-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
POM121p.S169L
Missense
SNP
0.608
2--
POM121C-
-
-
-
0Del-
POMP-
-
-
-
1Loss-
POPDC3-
-
-
-
1Loss-
POR-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POTEB-
-
-
-
0Del-
POTEB2-
-
-
-
0Del-
POTEB3-
-
-
-
0Del-
POTEG-
-
-
-
0Del-
POTEH-
-
-
-
0Del-
POTEM-
-
-
-
0Del-
POU2AF1-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPFIA3p.E66Q
Missense
SNP
0.500
1Loss-
PPFIA4p.E1169K
Missense
SNP
0.274
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIAL4A-
-
-
-
0Del-
PPIAL4C-
-
-
-
3Gain-
PPIAL4D-
-
-
-
0Del-
PPIAL4E-
-
-
-
0Del-
PPIAL4F-
-
-
-
0Del-
PPIAL4G-
-
-
-
0Del-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R12C-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R15A-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R37-
-
-
-
1Loss-
PPP1R8-
-
-
-
1Loss-
PPP1R9Ap.D40N
Missense
SNP
0.549
2--
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2Cp.I95M
Missense
SNP
0.436
2--
PPP2R5A-
-
-
-
3Gain-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6R1-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF10-
-
-
-
0Del-
PRAMEF11-
-
-
-
0Del-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
0Del-
PRAMEF14-
-
-
-
0Del-
PRAMEF15-
-
-
-
0Del-
PRAMEF17-
-
-
-
0Del-
PRAMEF18-
-
-
-
0Del-
PRAMEF19-
-
-
-
0Del-
PRAMEF2-
-
-
-
0Del-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
0Del-
PRAMEF26-
-
-
-
0Del-
PRAMEF27-
-
-
-
0Del-
PRAMEF33-
-
-
-
0Del-
PRAMEF4-
-
-
-
0Del-
PRAMEF5-
-
-
-
0Del-
PRAMEF6-
-
-
-
0Del-
PRAMEF7-
-
-
-
0Del-
PRAMEF8-
-
-
-
0Del-
PRAMEF9-
-
-
-
0Del-
PRCC-
-
-
-
3Gain-
PRDM1-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDX2-
-
-
-
1Loss-
PRDX3-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREP-
-
-
-
1Loss-
PREPLp.X206_splice
Splice_Site
SNP
0.638
2--
PRG4-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKACA-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKCZ-
-
-
-
1Loss-
PRKD2-
-
-
-
1Loss-
PRKG2p.Q729*
Nonsense
SNP
0.341
2--
PRKN-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRMT1-
-
-
-
1Loss-
PRMT2-
-
-
-
3Gain-
PRMT7-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROZ-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF31-
-
-
-
1Loss-
PRR12-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR20A-
-
-
-
1Loss-
PRR20B-
-
-
-
1Loss-
PRR20C-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
0Del-
PRR23D2-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRG2p.E66Q
Missense
SNP
0.438
1Loss-
PRRX1-
-
-
-
3Gain-
PRSS23-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS54-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRXL2B-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSPC1-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PTAFR-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGIR-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH2-
-
-
-
1Loss-
PTOV1-
-
-
-
1Loss-
PTP4A1-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRH-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRK-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTPRU-
-
-
-
1Loss-
PTS-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUSL1-
-
-
-
1Loss-
PVR-
-
-
-
1Loss-
PYCR2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QKI-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
QSER1p.R1403T
Missense
SNP
0.434
2--
QSOX1-
-
-
-
3Gain-
QTRT1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB32-
-
-
-
1Loss-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB42-
-
-
-
1Loss-
RAB4A-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RABEP1p.S742C
Missense
SNP
0.567
2--
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAD23A-
-
-
-
1Loss-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RALBp.R174K
Missense
SNP
0.436
2--
RALGPS2-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RAP1Bp.E45K
Missense
SNP
0.464
2--
RAP1GAP-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASA4-
-
-
-
0Del-
RASA4B-
-
-
-
0Del-
RASAL2p.E12K
Missense
SNP
0.315
3Gain-
RASAL3-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBBP5-
-
-
-
3Gain-
RBL2p.R453K
Missense
SNP
1.000
1Loss-
RBM20-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM28p.S14L
Missense
SNP
0.484
2--
RBM34-
-
-
-
3Gain-
RBM5p.D267N
Missense
SNP
0.522
2--
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC1L-
-
-
-
0Del-
RCC2-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RDH13-
-
-
-
1Loss-
RDH8p.Q78H
Missense
SNP
0.412
1Loss-
RDX-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELp.X363_splice
Splice_Site
SNP
0.500
2--
RELB-
-
-
-
1Loss-
REN-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFPL4A-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFWD2p.G652E
Missense
SNP
0.303
NDND-
RFWD3-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3p.Q518*
Nonsense
SNP
0.447
2--
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL3-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGPD2-
-
-
-
0Del-
RGPD6-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS10-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS18p.P209A
Missense
SNP
0.305
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9p.E422K
Missense
SNP
0.445
2--
RGSL1-
-
-
-
3Gain-
RHBDD2-
-
-
-
1Loss-
RHBDF2p.E50Q
Missense
SNP
0.489
2--
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEX-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIMBP3-
-
-
-
0Del-
RIMS1-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIPPLY2-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RLN3-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SL2-
-
-
-
NDNDUSP22--RN7SL2
RNASEH2A-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNASET2-
-
-
-
1Loss-
RNF111p.S24F
Missense
SNP
0.521
2--
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF123-
-
-
-
0Del-
RNF126-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF157p.E571K
Missense
SNP
0.489
2--
RNF166-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF207-
-
-
-
1Loss-
RNF213p.S4669L
Missense
SNP
0.427
2--
RNF214-
-
-
-
1Loss-
RNF217-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF220p.M63I
Missense
SNP
0.455
2--
RNF223-
-
-
-
1Loss-
RNF225-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROPN1.
Splice_Site
SNP
0.481
2--
RORAp.E243K
Missense
SNP
0.454
2--
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
1Loss-
RP1p.G958E
Missense
SNP
0.464
2--
RPA2-
-
-
-
1Loss-
RPAP1p.R1297C
Missense
SNP
0.539
2--
RPEL1-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPGRp.Y393H
Missense
SNP
0.513
NDND-
RPGRIP1L-
-
-
-
1Loss-
RPH3Ap.R345T
Missense
SNP
0.541
2--
RPL11-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL18-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL36-
-
-
-
1Loss-
RPL7Ap.E33Q
Missense
SNP
0.499
2--
RPLP2-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS28-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6KA1-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPS9-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RRAS-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRN3-
-
-
-
0Del-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPH6A-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RSPRY1-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTN2-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUNDC1p.D223H
Missense
SNP
0.567
2--
RUNX1p.D123Gfs*15
Frame_Shift_Ins
INS
0.330
2--
RUNX3-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUVBL2-
-
-
-
1Loss-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR1p.M2250I
Missense
SNP
0.500
2--
RYR2p.E4963K
Missense
SNP
0.295
3Gain-
RYR3p.E4363Q
Missense
SNP
0.542
2--
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD11-
-
-
-
1Loss-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SASH1p.S1045L
Missense
SNP
0.983
1Loss-
SBF2-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAF1-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCD-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCML4-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1D-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
0Del-
SCYL3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF4-
-
-
-
1Loss-
SDHAF4-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC23IP-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2p.E356K
Missense
SNP
0.515
2--
SEC63-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENON-
-
-
-
1Loss-
SELENOW-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3Dp.E127K
Missense
SNP
0.454
2--
SEMA3Fp.S630L
Missense
SNP
0.570
2--
SEMA4A-
-
-
-
3Gain-
SEMA4Cp.E725K
Missense
SNP
0.476
2--
SEMA4G-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SENP6-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINB9p.E141K
Missense
SNP
0.464
2--
SERPINC1-
-
-
-
3Gain-
SERPINE3-
-
-
-
1Loss-
SERPINF1p.E202Q
Missense
SNP
0.594
2--
SERTAD4-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESN1-
-
-
-
1Loss-
SESN2-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETXp.E1136K
Missense
SNP
0.475
2--
SF3A2-
-
-
-
1Loss-
SF3B2p.P112A
Missense
SNP
0.545
2--
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SFN-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFT2D1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGCZp.R277P
Missense
SNP
0.075
2--
SGK1-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D3A-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHCBP1Lp.E64K
Missense
SNP
0.352
3Gain-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHISA2-
-
-
-
1Loss-
SHISA4-
-
-
-
3Gain-
SHISA7-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHROOM2p.D1414N
Missense
SNP
0.515
NDND-
SHTN1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC10p.R122T
Missense
SNP
0.487
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12p.Q533*
p.S390*
Nonsense
Nonsense
SNP
SNP
0.515
0.546
1Loss-
SIGLEC14p.R109Kfs*18
Frame_Shift_Del
DEL
0.200
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKI-
-
-
-
1Loss-
SLAIN1-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A2p.E321*
Nonsense
SNP
0.996
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC17A5-
-
-
-
1Loss-
SLC17A7-
-
-
-
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A5-
-
-
-
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC22A1p.R402C
Missense
SNP
1.000
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC25A1p.R206H
Missense
SNP
0.495
2--
SLC25A15-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC26A9-
-
-
-
3Gain-
SLC27A1-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC2A12-
-
-
-
1Loss-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A2-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35D3-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
0Del-
SLC35F1-
-
-
-
1Loss-
SLC35F2-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4p.R445Q
Missense
SNP
0.984
1Loss-
SLC38A5p.E24K
Missense
SNP
0.527
NDND-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A12p.W446*
Nonsense
SNP
0.422
2--
SLC39A3-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC44A2-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A3-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC4A4p.E376*
Nonsense
SNP
0.413
2--
SLC50A1-
-
-
-
3Gain-
SLC5A5-
-
-
-
1Loss-
SLC6A16-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A3p.F98L
Missense
SNP
0.503
2--
SLC7A1-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A2p.S181F
Missense
SNP
0.507
2--
SLC9A5-
-
-
-
1Loss-
SLC9C2-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SLTMp.E298Q
Missense
SNP
0.476
2--
SMAD9-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMC3-
-
-
-
1Loss-
SMCO4-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM28-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPD2p.D238Y
Missense
SNP
0.310
1Loss-
SMPD3-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMPDL3B-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAP91-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCAIPp.P849S
Missense
SNP
0.519
2--
SNHG28-
-
-
-
3Gain-
SNRNP70-
-
-
-
1Loss-
SNRPD2-
-
-
-
1Loss-
SNRPE-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNX1p.E12D
Missense
SNP
0.411
2--
SNX14-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX3-
-
-
-
1Loss-
SNX4p.E269Q
Missense
SNP
0.489
2--
SNX9-
-
-
-
1Loss-
SOAT1-
-
-
-
3Gain-
SOBP-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX13-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SOX9p.*510Sext*49
Nonstop
SNP
0.505
2--
SPA17-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
0Del-
SPAG17p.E743K
Missense
SNP
0.467
2--
SPAG5p.L1122V
Missense
SNP
0.487
2--
SPARC-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA17-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA21-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA31A1-
-
-
-
0Del-
SPATA31A3-
-
-
-
0Del-
SPATA31A5-
-
-
-
0Del-
SPATA31A6-
-
-
-
0Del-
SPATA31A7-
-
-
-
0Del-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA9-
-
-
-
1Loss-
SPATS2Lp.E119D
Missense
SNP
0.481
2--
SPC24-
-
-
-
1Loss-
SPDYE16-
-
-
-
1Loss-
SPDYE2-
-
-
-
0Del-
SPDYE2B-
-
-
-
0Del-
SPDYE5-
-
-
-
0Del-
SPEGp.S488L
Missense
SNP
0.600
2--
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHK2-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPIDRp.E395Q
Missense
SNP
0.476
2--
SPIRE2-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR2A-
-
-
-
3Gain-
SPRR2B-
-
-
-
3Gain-
SPRR2D-
-
-
-
3Gain-
SPRR2E-
-
-
-
3Gain-
SPRR2F-
-
-
-
3Gain-
SPRR2G-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SPSB3p.R251T
Missense
SNP
0.593
2--
SPTA1p.E2383Q
Missense
SNP
0.356
3Gain-
SPTBp.D1222N
Missense
SNP
0.504
2--
SRARP-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
0Del-
SRGAP2C-
-
-
-
0Del-
SRM-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM3-
-
-
-
1Loss-
SRRM5-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF12-
-
-
-
1Loss-
SRSF4-
-
-
-
1Loss-
SRSF8-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSC4D-
-
-
-
1Loss-
SSC5D-
-
-
-
1Loss-
SSH1p.Q815*
Nonsense
SNP
0.521
2--
SSPOp.P2061S
Missense
SNP
0.576
2--
SSR2-
-
-
-
3Gain-
SSU72-
-
-
-
0Del-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL4p.S63L
Missense
SNP
1.000
1Loss-
ST5-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD4-
-
-
-
1Loss-
STAT1p.D207N
Missense
SNP
0.514
2--
STEAP4p.F204L
Missense
SNP
0.488
2--
STIM1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17Ap.D238H
Missense
SNP
0.503
2--
STK24-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STMN1-
-
-
-
1Loss-
STMN3p.E14K
Missense
SNP
0.503
2--
STN1-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX10-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX12-
-
-
-
1Loss-
STX19p.E120K
Missense
SNP
0.459
2--
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP2p.D362N
Missense
SNP
0.492
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP6p.D160Y
Missense
SNP
0.474
2--
STYXL1-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULF1p.L525F
Missense
SNP
0.479
2--
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SUMO4-
-
-
-
1Loss-
SUPT20Hp.E196K
Missense
SNP
1.000
1Loss-
SUSD4-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SWAP70-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYCE1L-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYMPK-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNE1p.R3277T
Missense
SNP
1.000
1Loss-
SYNGR4-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT3-
-
-
-
1Loss-
SYT5-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAGAP-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAOK2p.P959T
Missense
SNP
0.385
2--
TARBP1-
-
-
-
3Gain-
TARDBP-
-
-
-
1Loss-
TARM1-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TBC1D17-
-
-
-
1Loss-
TBC1D3-
-
-
-
0Del-
TBC1D32p.E943Q
Missense
SNP
1.000
1Loss-
TBC1D3B-
-
-
-
0Del-
TBC1D3C-
-
-
-
0Del-
TBC1D3D-
-
-
-
0Del-
TBC1D3E-
-
-
-
0Del-
TBC1D3F-
-
-
-
0Del-
TBC1D3G-
-
-
-
0Del-
TBC1D3H-
-
-
-
0Del-
TBC1D3I-
-
-
-
0Del-
TBC1D3K-
-
-
-
0Del-
TBC1D3L-
-
-
-
0Del-
TBC1D4-
-
-
-
1Loss-
TBC1D5p.E229K
Missense
SNP
0.485
2--
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TBXT-
-
-
-
1Loss-
TCEA3-
-
-
-
1Loss-
TCERG1Lp.R458*
Nonsense
SNP
0.482
2--
TCF21-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10Lp.E36K
Missense
SNP
0.449
2--
TCP10L2-
-
-
-
1Loss-
TCTE3-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD3-
-
-
-
1Loss-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TEAD2-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TENT4B-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TEX101-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX26-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX45-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFPI2p.R222C
Missense
SNP
0.513
2--
TFPT-
-
-
-
1Loss-
TGDS-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFBR3L-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP7p.R131Q
Missense
SNP
0.457
2--
THBS2-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS-
-
-
-
1Loss-
THEMIS2-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIFABp.V102A
Missense
SNP
0.476
2--
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJP1p.Q670*
Nonsense
SNP
0.571
2--
TJP3-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE4p.E105K
Missense
SNP
0.444
2--
TLE6-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLX1-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMC4-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEM120A-
-
-
-
1Loss-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM143-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM150B-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM190-
-
-
-
1Loss-
TMEM191B-
-
-
-
0Del-
TMEM200A-
-
-
-
1Loss-
TMEM200B-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM205p.L179F
Missense
SNP
0.512
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM238-
-
-
-
1Loss-
TMEM240-
-
-
-
0Del-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
1Loss-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM81-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM86B-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMEM9B-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1Ap.E398K
Missense
SNP
0.492
2--
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNFSF9-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNK2p.*1087Sext*15
Nonstop
SNP
0.477
2--
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNT1-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNNT3-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNS3p.E407Q
Missense
SNP
0.779
2--
TOLLIP-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM40-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP73-
-
-
-
1Loss-
TPBG-
-
-
-
1Loss-
TPD52L1-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPM4-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRG1L-
-
-
-
1Loss-
TPRX1-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TRBV5-6p.G59S
Missense
SNP
0.542
NDND-
TRDN-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TREML1p.Q307E
Missense
SNP
0.401
2--
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM43-
-
-
-
0Del-
TRIM43B-
-
-
-
0Del-
TRIM46-
-
-
-
3Gain-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
0Del-
TRIM49C-
-
-
-
0Del-
TRIM49D1-
-
-
-
0Del-
TRIM49D2-
-
-
-
0Del-
TRIM5-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM64-
-
-
-
0Del-
TRIM64B-
-
-
-
0Del-
TRIM64C-
-
-
-
0Del-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM68-
-
-
-
1Loss-
TRIM73-
-
-
-
0Del-
TRIM77-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIP12p.S247L
Missense
SNP
0.480
2--
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT11-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1p.*917Sext*10
Nonstop
SNP
0.492
2--
TRPC4-
-
-
-
1Loss-
TRPC5p.S212L
Missense
SNP
0.465
NDND-
TRPC6-
-
-
-
1Loss-
TRPM4-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM7p.G1215A
Missense
SNP
0.531
2--
TRPV5p.S654*
Nonsense
SNP
0.474
2--
TRRAPp.Q2267*
Nonsense
SNP
0.584
2--
TRUB1-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
1Loss-
TSEN15-
-
-
-
3Gain-
TSEN34-
-
-
-
1Loss-
TSKS-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TSTD3-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC34-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC39Ap.R418*
Nonsense
SNP
0.435
2--
TTK-
-
-
-
1Loss-
TTLL10-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTNp.E29373D
p.S5465L
Missense
Missense
SNP
SNP
0.506
0.526
2--
TTYH1-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBE1-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP2-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TWNK-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL4B-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYR-
-
-
-
1Loss-
U2AF2-
-
-
-
1Loss-
UAP1-
-
-
-
3Gain-
UBA52-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE2L5-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2S-
-
-
-
1Loss-
UBE2T-
-
-
-
3Gain-
UBE3Ap.E573K
Missense
SNP
0.491
2--
UBE3D-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBL4Ap.E124K
Missense
SNP
0.456
NDND-
UBL5-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNL-
-
-
-
1Loss-
UBR2p.E1605Q
Missense
SNP
0.434
2--
UBR4-
-
-
-
1Loss-
UBTFL1-
-
-
-
0Del-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFL1-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC5Dp.E292K
p.M469I
Missense
Missense
SNP
SNP
0.500
0.500
2--
UNC93Ap.S238L
Missense
SNP
1.000
1Loss-
UPF1-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK2-
-
-
-
1Loss-
UPK3B-
-
-
-
1Loss-
UPK3BL1-
-
-
-
0Del-
UQCR11-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
USB1-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH2A-
-
-
-
3Gain-
USHBP1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP12-
-
-
-
1Loss-
USP17L1-
-
-
-
0Del-
USP17L10-
-
-
-
0Del-
USP17L11-
-
-
-
0Del-
USP17L12-
-
-
-
0Del-
USP17L13-
-
-
-
0Del-
USP17L15-
-
-
-
0Del-
USP17L17-
-
-
-
0Del-
USP17L18-
-
-
-
0Del-
USP17L19-
-
-
-
0Del-
USP17L2-
-
-
-
0Del-
USP17L20-
-
-
-
0Del-
USP17L21-
-
-
-
0Del-
USP17L22-
-
-
-
0Del-
USP17L23-
-
-
-
0Del-
USP17L24-
-
-
-
0Del-
USP17L25-
-
-
-
0Del-
USP17L26-
-
-
-
0Del-
USP17L27-
-
-
-
0Del-
USP17L28-
-
-
-
0Del-
USP17L29-
-
-
-
0Del-
USP17L3-
-
-
-
1Loss-
USP17L30-
-
-
-
0Del-
USP17L4-
-
-
-
0Del-
USP17L5-
-
-
-
0Del-
USP17L7-
-
-
-
0Del-
USP17L8-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
2-USP22--RN7SL2
USP28-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP45-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP4-
-
-
-
1Loss-
UTRN-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
UXS1p.E65K
Missense
SNP
0.510
2--
VAC14-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2p.R223W
Missense
SNP
0.386
3Gain-
VASP-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAV1-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VGLL2-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIP-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS35-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS51p.D62N
Missense
SNP
0.500
2--
VPS72-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VSIG10Lp.S432W
Missense
SNP
0.500
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM1-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VWA1-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC1-
-
-
-
0Del-
WASHC2A-
-
-
-
0Del-
WBP1L-
-
-
-
1Loss-
WBP4-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY4p.S312L
Missense
SNP
0.508
2--
WDR11-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR27-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR64-
-
-
-
3Gain-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDTC1-
-
-
-
1Loss-
WEE1-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WFDC9p.G73A
Missense
SNP
0.363
2--
WHSC1L1p.P249Q
Missense
SNP
0.449
NDND-
WISP3-
-
-
-
1Loss-
WIZ-
-
-
-
1Loss-
WNK2p.S2126F
Missense
SNP
0.506
2--
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP73-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XIRP2p.E1652K
Missense
SNP
0.469
2--
XKR8p.H306Y
Missense
SNP
1.000
1Loss-
XPNPEP1-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
YAP1-
-
-
-
1Loss-
YBX3p.S79R
Missense
SNP
0.529
2--
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YTHDC2-
-
-
-
1Loss-
YTHDF2-
-
-
-
1Loss-
YWHAG-
-
-
-
1Loss-
YY1AP1p.E878K
Missense
SNP
0.346
3Gain-
Z68871.1-
-
-
-
NDNDZ68871.1--LINC00630
Z84488.2-
-
-
-
1Loss-
ZANp.R2138W
Missense
SNP
0.588
2--
ZAR1L-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB24-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB40-
-
-
-
1Loss-
ZBTB41-
-
-
-
3Gain-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H4-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZDHHC20-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP69Bp.F307L
Missense
SNP
0.509
2--
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFR2-
-
-
-
1Loss-
ZFYVE28p.L244V
Missense
SNP
0.072
2--
ZGLP1-
-
-
-
1Loss-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZMYM2-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF112-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF124-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF148p.D205Y
Missense
SNP
0.534
2--
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160p.Q221K
Missense
SNP
0.457
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
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-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF281p.S697L
Missense
SNP
0.309
3Gain-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF292-
-
-
-
1Loss-
ZNF296-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
0Del-
ZNF317-
-
-
-
1Loss-
ZNF319-
-
-
-
1Loss-
ZNF320-
-
-
-
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF331-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF358p.C181Y
Missense
SNP
0.547
1Loss-
ZNF404-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF426p.H174Y
Missense
SNP
0.485
1Loss-
ZNF428-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430p.R225T
Missense
SNP
0.452
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF436-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF444-
-
-
-
1Loss-
ZNF446-
-
-
-
1Loss-
ZNF45p.G244A
Missense
SNP
0.578
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF468-
-
-
-
1Loss-
ZNF469-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF473-
-
-
-
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
3Gain-
ZNF497-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF524-
-
-
-
1Loss-
ZNF525-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF541-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550p.G52R
Missense
SNP
0.525
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560p.L451F
Missense
SNP
0.078
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF575-
-
-
-
1Loss-
ZNF576-
-
-
-
1Loss-
ZNF577-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF579-
-
-
-
1Loss-
ZNF580-
-
-
-
1Loss-
ZNF581-
-
-
-
1Loss-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF628-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF649-
-
-
-
1Loss-
ZNF653-
-
-
-
1Loss-
ZNF658-
-
-
-
0Del-
ZNF66-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682p.L140V
Missense
SNP
0.550
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF69-
-
-
-
1Loss-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF701-
-
-
-
1Loss-
ZNF705B-
-
-
-
1Loss-
ZNF705D-
-
-
-
0Del-
ZNF705G-
-
-
-
0Del-
ZNF708p.Q109*
Nonsense
SNP
0.401
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF71-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF764p.E22Q
Missense
SNP
0.408
2--
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF778-
-
-
-
1Loss-
ZNF782p.S242F
Missense
SNP
0.448
2--
ZNF784-
-
-
-
1Loss-
ZNF787-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF841-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF846p.G474E
p.G428E
p.G245E
Missense
Missense
Missense
SNP
SNP
SNP
0.516
0.392
0.438
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF853p.R473W
Missense
SNP
0.607
2--
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZP3-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM4-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZUP1-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-