PDMR-174316~266-R~AD7-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A1CF-
-
-
-
1Loss-
AADAT-
-
-
-
1Loss-
AAK1p.L948P
Missense
SNP
0.287
1Loss-
AAMDC-
-
-
-
1Loss-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABCA12p.L1311F
Missense
SNP
0.753
3Gain-
ABCA5p.K1402R
Missense
SNP
0.449
2--
ABCA7-
-
-
-
1Loss-
ABCB1-
-
-
-
3Gain-
ABCB10-
-
-
-
1Loss-
ABCB11-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB6p.W360*
Nonsense
MNP
0.723
2--
ABCC12p.G847S
Missense
SNP
0.444
2--
ABCC2-
-
-
-
1Loss-
ABCC8-
-
-
-
1Loss-
ABCC9p.L1140Q
Missense
SNP
0.333
2--
ABCE1-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD10-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD5p.P286F
Missense
MNP
0.398
2--
ABHD8-
-
-
-
1Loss-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
3Gain-
ABI3BP-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002985.1-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005041.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005779.2-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007040.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007240.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008073.3-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008537.1-
-
-
-
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-
AC008982.1-
-
-
-
1Loss-
AC009336.2-
-
-
-
3Gain-
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-
AC010615.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011448.1-
-
-
-
1Loss-
AC011452.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC013717.1-
-
-
-
1Loss-
AC017083.3-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC020907.6-
-
-
-
1Loss-
AC020909.1-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC020922.1-
-
-
-
1Loss-
AC021660.3-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068547.1-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC069444.2-
-
-
-
1Loss-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC079447.1-
-
-
-
3Gain-
AC083800.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092017.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC093227.2-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC093899.2-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC108488.2-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC109829.1p.P98S
Missense
SNP
0.795
NDND-
AC112128.1-
-
-
-
1Loss-
AC112229.3-
-
-
-
3Gain-
AC118470.1-
-
-
-
1Loss-
AC119396.1-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC239799.1-
-
-
-
1Loss-
AC243547.3-
-
-
-
1Loss-
AC243756.1-
-
-
-
1Loss-
AC243967.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAD11-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACADL-
-
-
-
3Gain-
ACADSB-
-
-
-
1Loss-
ACAP3-
-
-
-
1Loss-
ACAT1-
-
-
-
1Loss-
ACBD3-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACKR1-
-
-
-
1Loss-
ACKR4-
-
-
-
1Loss-
ACMSDp.R59C
Missense
SNP
0.143
3Gain-
ACOT7-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACOXL-
-
-
-
3Gain-
ACP1-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP6p.V404A
Missense
SNP
0.567
1Loss-
ACP7-
-
-
-
1Loss-
ACPP-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
3Gain-
ACSL5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACTA1-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTG2p.L350F
Missense
SNP
0.721
1Loss-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN2-
-
-
-
1Loss-
ACTN3-
-
-
-
1Loss-
ACTN4-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR2-
-
-
-
1Loss-
ACTR3-
-
-
-
3Gain-
ACTRT2-
-
-
-
1Loss-
ACVR1-
-
-
-
3Gain-
ACVR1C-
-
-
-
3Gain-
ACVR2A-
-
-
-
3Gain-
ACY3-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM15-
-
-
-
1Loss-
ADAM17-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM23-
-
-
-
3Gain-
ADAM29p.P486S
Missense
SNP
0.321
1Loss-
ADAM8-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS12-
-
-
-
5Amp-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
5Amp-
ADAMTS2p.R213C
Missense
SNP
0.635
2--
ADAMTS20p.P1071L
Missense
SNP
0.282
2--
ADAMTS3-
-
-
-
1Loss-
ADAMTS4-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
1Loss-
ADARB2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCY10p.P1054S
Missense
SNP
0.652
2--
ADCY2-
-
-
-
5Amp-
ADCY3-
-
-
-
1Loss-
ADCY4p.G188E
Missense
SNP
0.451
2--
ADCY5-
-
-
-
1Loss-
ADCY8p.E999K
Missense
SNP
0.386
2--
ADCYAP1-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADD2-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGBp.E1067K
Missense
SNP
0.429
2--
ADGRA1-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRD1p.N437S
Missense
SNP
0.632
2--
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRF3-
-
-
-
1Loss-
ADGRG7-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRV1p.M523I
p.R3494T
Missense
Missense
SNP
SNP
0.734
0.342
2--
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADI1-
-
-
-
1Loss-
ADIPOR1-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM5-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADORA1-
-
-
-
1Loss-
ADPRH-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADSS-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF3-
-
-
-
3Gain-
AFG3L2-
-
-
-
3Gain-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AFTPH-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP4-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGBL5-
-
-
-
1Loss-
AGFG1-
-
-
-
3Gain-
AGMAT-
-
-
-
1Loss-
AGO2p.S189F
p.P155S
Missense
Missense
SNP
SNP
0.308
0.296
2--
AGPS-
-
-
-
3Gain-
AGRN-
-
-
-
1Loss-
AGT-
-
-
-
1Loss-
AGXT2-
-
-
-
5Amp-
AHCTF1-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHNAK-
-
-
-
1Loss-
AHRR-
-
-
-
5Amp-
AIDA-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AIM2-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIP-
-
-
-
1Loss-
AJAP1-
-
-
-
1Loss-
AKAIN1-
-
-
-
3Gain-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AKIP1-
-
-
-
1Loss-
AKNAp.D29N
Missense
SNP
0.472
2--
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1S1-
-
-
-
1Loss-
AKT2-
-
-
-
1Loss-
AKT3-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL117348.2-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL158209.1-
-
-
-
NDNDAL158209.1--NEBL
AL355315.1-
-
-
-
1Loss-
AL358472.6-
-
-
-
1Loss-
AL358472.7-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL512785.2-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
1Loss-
AL591806.3-
-
-
-
1Loss-
AL691442.1-
-
-
-
1Loss-
AL713999.1-
-
-
-
1Loss-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
1Loss-
ALDH16A1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1L1-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALK-
-
-
-
1Loss-
ALKAL2-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALKBH6-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALLC-
-
-
-
1Loss-
ALMS1p.S1601F
Missense
SNP
0.627
1Loss-
ALOX5-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2p.W2067*
Nonsense
SNP
0.896
1Loss-
ALPL-
-
-
-
1Loss-
ALS2-
-
-
-
3Gain-
ALS2CR12-
-
-
-
3Gain-
ALX4-
-
-
-
1Loss-
AMACR-
-
-
-
5Amp-
AMBN-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMHp.G433S
Missense
SNP
0.722
1Loss-
AMMECR1L-
-
-
-
3Gain-
AMOTL1-
-
-
-
1Loss-
AMOTL2-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
ANAPC1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
1Loss-
ANAPC15-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANGEL2-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8p.V119M
Missense
SNP
0.612
1Loss-
ANK2p.S274F
Missense
SNP
0.239
1Loss-
ANK3-
-
-
-
1Loss-
ANKARp.L940F
Missense
SNP
0.785
3Gain-
ANKH-
-
-
-
5Amp-
ANKHD1-EIF4EBP3p.L655F
Missense
SNP
0.619
2--
ANKIB1-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD13D-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD27p.L383F
Missense
SNP
0.351
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD30Ap.H1168Y
Missense
SNP
0.289
1Loss-
ANKRD30B-
-
-
-
3Gain-
ANKRD33B-
-
-
-
5Amp-
ANKRD34A-
-
-
-
1Loss-
ANKRD35p.P763S
Missense
SNP
0.629
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD42-
-
-
-
1Loss-
ANKRD44-
-
-
-
3Gain-
ANKRD49-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD53-
-
-
-
1Loss-
ANKRD62-
-
-
-
3Gain-
ANKRD65-
-
-
-
1Loss-
ANKRD7-
-
-
-
3Gain-
ANO1-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO8p.G1001E
Missense
SNP
0.377
1Loss-
ANO9-
-
-
-
1Loss-
ANP32E-
-
-
-
1Loss-
ANTXR1-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2R-
-
-
-
5Amp-
ANXA3-
-
-
-
1Loss-
ANXA4-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
1Loss-
AOX1-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP1S3-
-
-
-
3Gain-
AP2A1-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2S1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP5B1-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
3Gain-
APCSp.W127*
Nonsense
SNP
0.626
1Loss-
APH1A-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLFp.P419S
Missense
SNP
0.297
1Loss-
APLNR-
-
-
-
1Loss-
APLP1-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOB-
-
-
-
1Loss-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
AQP10-
-
-
-
1Loss-
AQP11-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
ARAP1-
-
-
-
1Loss-
ARAP2-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF1-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGEF3p.X368_splice
Splice_Site
SNP
0.463
2--
ARFIP1-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARGFX-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP21p.L1281M
Missense
SNP
0.628
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP25-
-
-
-
1Loss-
ARHGAP28-
-
-
-
3Gain-
ARHGAP30-
-
-
-
1Loss-
ARHGAP31-
-
-
-
1Loss-
ARHGAP32-
-
-
-
1Loss-
ARHGAP33-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP39p.E314V
Missense
SNP
0.443
2--
ARHGAP42-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF11-
-
-
-
1Loss-
ARHGEF12-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF17-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
1Loss-
ARHGEF33-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID4B-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARL13B-
-
-
-
1Loss-
ARL14EP-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL5A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
1Loss-
ARL6IP6-
-
-
-
3Gain-
ARL8A-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC1p.P28S
Missense
SNP
0.434
2--
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARMC9-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNT-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARRB1-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARV1-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP2p.K222E
Missense
SNP
0.693
1Loss-
ASAP3-
-
-
-
1Loss-
ASB13-
-
-
-
1Loss-
ASB15-
-
-
-
3Gain-
ASB3-
-
-
-
1Loss-
ASB4-
-
-
-
3Gain-
ASB5-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASH1L-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASNS-
-
-
-
3Gain-
ASNSD1-
-
-
-
3Gain-
ASPDH-
-
-
-
1Loss-
ASPHD1p.G85K
Missense
MNP
0.601
2--
ASPRV1-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASTE1-
-
-
-
1Loss-
ASTN2p.S157L
Missense
SNP
0.442
2--
ASUNp.D417N
Missense
SNP
0.627
NDND-
ASXL2-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD1p.G63R
Missense
SNP
0.277
1Loss-
ATAD2B-
-
-
-
1Loss-
ATAD3Ap.Y559H
Missense
SNP
0.277
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF2p.P496L
Missense
SNP
0.713
3Gain-
ATF3-
-
-
-
1Loss-
ATF5-
-
-
-
1Loss-
ATF6-
-
-
-
1Loss-
ATF7IPp.H1132Y
Missense
SNP
0.231
2--
ATG13-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG3-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATIC-
-
-
-
3Gain-
ATL2-
-
-
-
1Loss-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOH8-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP1A2-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
ATP1A4-
-
-
-
1Loss-
ATP2B4-
-
-
-
1Loss-
ATP2C1-
-
-
-
1Loss-
ATP4A-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MC3-
-
-
-
3Gain-
ATP5MD-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MG-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V1A-
-
-
-
1Loss-
ATP6V1B1-
-
-
-
1Loss-
ATP6V1C2-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP8A1-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2p.R537K
Missense
SNP
0.509
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATRp.L1707F
Missense
SNP
0.500
2--
ATRAID-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AUP1-
-
-
-
1Loss-
AURKAIP1-
-
-
-
1Loss-
AURKBp.P204_K216del
In_Frame_Del
DEL
0.136
2--
AURKC-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AVPR1B-
-
-
-
1Loss-
AXLp.G864R
Missense
SNP
0.671
1Loss-
AZU1-
-
-
-
1Loss-
B3GALNT2-
-
-
-
1Loss-
B3GALT1-
-
-
-
3Gain-
B3GALT6-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT2-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT6-
-
-
-
1Loss-
B3GNT7-
-
-
-
3Gain-
B3GNT8-
-
-
-
1Loss-
B3GNT9p.G296R
Missense
SNP
0.366
2--
B4GALNT4-
-
-
-
1Loss-
B4GALT3-
-
-
-
1Loss-
B4GALT4-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
B4GAT1-
-
-
-
1Loss-
B9D2-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BABAM2-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BARD1-
-
-
-
3Gain-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
5Amp-
BATF2-
-
-
-
1Loss-
BATF3-
-
-
-
1Loss-
BAX-
-
-
-
1Loss-
BAZ2B-
-
-
-
3Gain-
BBC3-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS5-
-
-
-
3Gain-
BBS7-
-
-
-
1Loss-
BBXp.N656I
Missense
SNP
1.000
1Loss-
BCAMp.X627_splice
Splice_Site
SNP
0.691
1Loss-
BCAN-
-
-
-
1Loss-
BCAP29-
-
-
-
3Gain-
BCAT2-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCL11A-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L11-
-
-
-
3Gain-
BCL2L12-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL6p.Y58H
Missense
SNP
0.450
2--
BCL9-
-
-
-
1Loss-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BDH2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST1-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BFSP2-
-
-
-
1Loss-
BGLAP-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICRA-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIRC2-
-
-
-
1Loss-
BIRC3p.E478K
Missense
SNP
0.340
1Loss-
BIRC6-
-
-
-
1Loss-
BIRC8p.P203S
Missense
SNP
0.631
1Loss-
BLID-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRB-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP10-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5p.P263L
Missense
SNP
0.338
2--
BMPR1A-
-
-
-
1Loss-
BMPR1B-
-
-
-
1Loss-
BMPR2-
-
-
-
3Gain-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
3Gain-
BNIP3-
-
-
-
1Loss-
BNIPL-
-
-
-
1Loss-
BOC-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
1Loss-
BOLA3-
-
-
-
1Loss-
BOLL-
-
-
-
3Gain-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIp.G257E
Missense
SNP
0.473
2--
BPNT1-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRD9-
-
-
-
5Amp-
BRI3-
-
-
-
3Gain-
BRIX1-
-
-
-
5Amp-
BRMS1-
-
-
-
1Loss-
BROX-
-
-
-
1Loss-
BRSK1p.P457L
Missense
SNP
0.182
1Loss-
BRSK2-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSPH1-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD18-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD9p.R62*
Nonsense
SNP
0.424
2--
BTC-
-
-
-
1Loss-
BTG2-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTLA-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB1p.P322L
Missense
SNP
0.163
3Gain-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BUD31-
-
-
-
3Gain-
BZW1-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf54p.D61N
Missense
SNP
0.627
NDND-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf84p.R26K
Missense
SNP
0.643
NDND-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf60p.M184Nfs*14
Frame_Shift_Del
DEL
0.720
2--
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf47-
-
-
-
1Loss-
C19orf48-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1D-
-
-
-
1Loss-
C1GALT1C1L-
-
-
-
1Loss-
C1orf100-
-
-
-
1Loss-
C1orf115-
-
-
-
1Loss-
C1orf116-
-
-
-
1Loss-
C1orf131-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf189-
-
-
-
1Loss-
C1orf198-
-
-
-
1Loss-
C1orf226-
-
-
-
1Loss-
C1orf35-
-
-
-
1Loss-
C1orf43-
-
-
-
1Loss-
C1orf54-
-
-
-
1Loss-
C1orf56-
-
-
-
1Loss-
C1orf61-
-
-
-
1Loss-
C1orf68-
-
-
-
1Loss-
C1orf74-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL2-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QTNF12-
-
-
-
1Loss-
C1QTNF3-
-
-
-
5Amp-
C1QTNF3-AMACR-
-
-
-
5Amp-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
1Loss-
C2CD6-
-
-
-
3Gain-
C2orf15-
-
-
-
3Gain-
C2orf16-
-
-
-
1Loss-
C2orf40-
-
-
-
3Gain-
C2orf42-
-
-
-
1Loss-
C2orf49-
-
-
-
3Gain-
C2orf50-
-
-
-
1Loss-
C2orf66-
-
-
-
3Gain-
C2orf68-
-
-
-
1Loss-
C2orf69-
-
-
-
3Gain-
C2orf70-
-
-
-
1Loss-
C2orf72-
-
-
-
3Gain-
C2orf73-
-
-
-
1Loss-
C2orf74-
-
-
-
1Loss-
C2orf76-
-
-
-
3Gain-
C2orf78-
-
-
-
1Loss-
C2orf80-
-
-
-
3Gain-
C2orf81-
-
-
-
1Loss-
C2orf83-
-
-
-
3Gain-
C2orf88-
-
-
-
3Gain-
C2orf91-
-
-
-
1Loss-
C3-
-
-
-
1Loss-
C3orf22-
-
-
-
1Loss-
C3orf30-
-
-
-
1Loss-
C3orf52-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf85-
-
-
-
1Loss-
C4BPA-
-
-
-
1Loss-
C4BPB-
-
-
-
1Loss-
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf22-
-
-
-
5Amp-
C5orf34-
-
-
-
5Amp-
C5orf38-
-
-
-
5Amp-
C5orf49-
-
-
-
5Amp-
C5orf51-
-
-
-
5Amp-
C6p.K859T
Missense
SNP
0.902
5Amp-
C6orf132p.P97F
Missense
MNP
0.441
2--
C7-
-
-
-
5Amp-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf34p.E436K
Missense
SNP
0.516
2--
C9-
-
-
-
5Amp-
CA11-
-
-
-
1Loss-
CA14-
-
-
-
1Loss-
CAB39-
-
-
-
3Gain-
CABCOCO1-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CABP5-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1S-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CACNB2-
-
-
-
1Loss-
CACNB4-
-
-
-
3Gain-
CACNG6-
-
-
-
1Loss-
CACNG7-
-
-
-
1Loss-
CACNG8-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CAD-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CADM2p.X170_splice
Splice_Site
SNP
0.429
2--
CADM3-
-
-
-
1Loss-
CADM4-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALCRL-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM2-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK1G-
-
-
-
1Loss-
CAMK2D-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAND1p.P1002S
Missense
SNP
0.217
2--
CAPG-
-
-
-
1Loss-
CAPN1-
-
-
-
1Loss-
CAPN12-
-
-
-
1Loss-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPN2-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPN8-
-
-
-
1Loss-
CAPN9-
-
-
-
1Loss-
CAPNS1-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPSL-
-
-
-
5Amp-
CAPZA2-
-
-
-
3Gain-
CAPZB-
-
-
-
1Loss-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD6-
-
-
-
5Amp-
CARD8-
-
-
-
1Loss-
CARF-
-
-
-
3Gain-
CARM1-
-
-
-
1Loss-
CARMIL2p.G1150E
Missense
SNP
0.429
2--
CARNS1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP10-
-
-
-
3Gain-
CASP12-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP8p.E170*
Nonsense
SNP
0.793
3Gain-
CASP9-
-
-
-
1Loss-
CASQ1-
-
-
-
1Loss-
CASR-
-
-
-
1Loss-
CAT-
-
-
-
1Loss-
CATSPER1-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERBp.P880Q
Missense
SNP
0.550
2--
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
1Loss-
CATSPERG-
-
-
-
1Loss-
CATSPERZ-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAVIN2-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBLp.P596S
Missense
SNP
0.273
1Loss-
CBLB-
-
-
-
1Loss-
CBLC-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBWD2-
-
-
-
3Gain-
CC2D1A-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC106-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC114-
-
-
-
1Loss-
CCDC121-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC127-
-
-
-
5Amp-
CCDC130-
-
-
-
1Loss-
CCDC136p.E7K
Missense
SNP
0.565
3Gain-
CCDC138-
-
-
-
3Gain-
CCDC14-
-
-
-
1Loss-
CCDC141-
-
-
-
3Gain-
CCDC142-
-
-
-
1Loss-
CCDC148-
-
-
-
3Gain-
CCDC149-
-
-
-
1Loss-
CCDC15p.P594S
Missense
SNP
0.340
1Loss-
CCDC150-
-
-
-
3Gain-
CCDC151-
-
-
-
1Loss-
CCDC152-
-
-
-
5Amp-
CCDC153-
-
-
-
1Loss-
CCDC155-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC168p.G4294R
p.S2307L
Missense
Missense
SNP
SNP
0.490
0.434
2--
CCDC172-
-
-
-
1Loss-
CCDC173-
-
-
-
3Gain-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC185-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC190-
-
-
-
1Loss-
CCDC191-
-
-
-
1Loss-
CCDC194-
-
-
-
1Loss-
CCDC27-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC53p.D164N
Missense
SNP
0.525
NDND-
CCDC54-
-
-
-
1Loss-
CCDC58-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC73-
-
-
-
1Loss-
CCDC77p.K273N
Missense
SNP
0.654
2--
CCDC8-
-
-
-
1Loss-
CCDC80-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85A-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88Ap.E416K
Missense
SNP
0.273
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC9-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC93-
-
-
-
3Gain-
CCDC96-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCER2-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL20-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCL28-
-
-
-
5Amp-
CCNA2-
-
-
-
1Loss-
CCND1-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNL2-
-
-
-
1Loss-
CCNT2-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
3Gain-
CCS-
-
-
-
1Loss-
CCSAP-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCSER2-
-
-
-
1Loss-
CCT3-
-
-
-
1Loss-
CCT4-
-
-
-
1Loss-
CCT5-
-
-
-
5Amp-
CCT7-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD1A-
-
-
-
1Loss-
CD1B-
-
-
-
1Loss-
CD1C-
-
-
-
1Loss-
CD1D-
-
-
-
1Loss-
CD1E-
-
-
-
1Loss-
CD2p.G114E
Missense
SNP
0.597
2--
CD200-
-
-
-
1Loss-
CD200R1-
-
-
-
1Loss-
CD200R1L-
-
-
-
1Loss-
CD207-
-
-
-
1Loss-
CD209-
-
-
-
1Loss-
CD22-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD244-
-
-
-
1Loss-
CD248-
-
-
-
1Loss-
CD28-
-
-
-
3Gain-
CD302-
-
-
-
3Gain-
CD320-
-
-
-
1Loss-
CD33-
-
-
-
1Loss-
CD34-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3EAP-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD44-
-
-
-
1Loss-
CD46-
-
-
-
1Loss-
CD47-
-
-
-
1Loss-
CD48-
-
-
-
1Loss-
CD5-
-
-
-
1Loss-
CD52-
-
-
-
1Loss-
CD55-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD5L-
-
-
-
1Loss-
CD6-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD79A-
-
-
-
1Loss-
CD80-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD84-
-
-
-
1Loss-
CD86-
-
-
-
1Loss-
CD8A-
-
-
-
1Loss-
CD8B-
-
-
-
1Loss-
CD8B2-
-
-
-
3Gain-
CD96-
-
-
-
1Loss-
CDA-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42BPA-
-
-
-
1Loss-
CDC42BPG-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42EP3-
-
-
-
1Loss-
CDC42EP5-
-
-
-
1Loss-
CDC42SE1-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA7-
-
-
-
3Gain-
CDH10-
-
-
-
5Amp-
CDH12-
-
-
-
5Amp-
CDH15p.R812Q
Missense
SNP
0.312
2--
CDH18-
-
-
-
5Amp-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH6-
-
-
-
5Amp-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
5Amp-
CDHR1p.V507G
Missense
SNP
0.653
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR5-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK14-
-
-
-
3Gain-
CDK15-
-
-
-
3Gain-
CDK18-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK6-
-
-
-
3Gain-
CDK9p.E68K
Missense
SNP
0.396
2--
CDKL2-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2Ap.R80*
Nonsense
SNP
1.000
2--
CDKN2AIP-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDV3-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM19p.E70K
Missense
SNP
0.308
1Loss-
CEACAM20p.P571S
Missense
SNP
0.305
1Loss-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5-
-
-
-
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPG-
-
-
-
1Loss-
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF3-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPA-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPF-
-
-
-
1Loss-
CENPO-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP126-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
1Loss-
CEP192-
-
-
-
3Gain-
CEP295-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP63-
-
-
-
1Loss-
CEP68-
-
-
-
1Loss-
CEP72-
-
-
-
5Amp-
CEP76-
-
-
-
3Gain-
CEP78p.P627S
Missense
SNP
0.455
2--
CEP85-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CEP97-
-
-
-
1Loss-
CERKL-
-
-
-
3Gain-
CERS1-
-
-
-
1Loss-
CERS2-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CERS6-
-
-
-
3Gain-
CES4Ap.W461*
Nonsense
SNP
0.601
2--
CETN1-
-
-
-
3Gain-
CFAP100-
-
-
-
1Loss-
CFAP126-
-
-
-
1Loss-
CFAP221-
-
-
-
3Gain-
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
1Loss-
CFAP36-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
1Loss-
CFAP45-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54p.Q3037H
Missense
SNP
0.667
2--
CFAP58-
-
-
-
1Loss-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CFLAR-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGB3-
-
-
-
1Loss-
CGB5-
-
-
-
1Loss-
CGN-
-
-
-
1Loss-
CGREF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC2-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAMP1p.P363L
Missense
SNP
0.526
2--
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD5-
-
-
-
3Gain-
CHCHD6-
-
-
-
1Loss-
CHD1L-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHI3L1-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHIT1-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHML-
-
-
-
1Loss-
CHMP1B-
-
-
-
3Gain-
CHMP2A-
-
-
-
1Loss-
CHMP3-
-
-
-
1Loss-
CHN1-
-
-
-
3Gain-
CHN2p.G62R
p.L410V
Missense
Missense
SNP
SNP
0.439
0.421
2--
CHORDC1-
-
-
-
1Loss-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM2p.L154F
Missense
SNP
0.485
3Gain-
CHRM3-
-
-
-
1Loss-
CHRM4-
-
-
-
1Loss-
CHRNA1-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB2-
-
-
-
1Loss-
CHRNB4p.P161S
Missense
SNP
0.398
2--
CHST1-
-
-
-
1Loss-
CHST10-
-
-
-
3Gain-
CHST13-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST8-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHTOP-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CIART-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIB4-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CIDEA-
-
-
-
3Gain-
CILP2-
-
-
-
1Loss-
CIP2A-
-
-
-
1Loss-
CIR1-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CKAP2L-
-
-
-
3Gain-
CKAP5-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKS1B-
-
-
-
1Loss-
CLASP1-
-
-
-
3Gain-
CLASRP-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLCF1-
-
-
-
1Loss-
CLCN3-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN12-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
1Loss-
CLDND1-
-
-
-
1Loss-
CLDND2-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC4Fp.*590Qext*58
Nonstop
SNP
0.339
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLGN-
-
-
-
1Loss-
CLHC1-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIP3-
-
-
-
1Loss-
CLIP4-
-
-
-
1Loss-
CLK1-
-
-
-
3Gain-
CLK2-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLPTM1L-
-
-
-
5Amp-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLSTN2p.E398K
Missense
SNP
0.441
2--
CLUL1-
-
-
-
3Gain-
CLVS2p.D43N
Missense
SNP
0.361
2--
CMBL-
-
-
-
5Amp-
CMPK2-
-
-
-
1Loss-
CMSS1-
-
-
-
1Loss-
CNBP-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA3-
-
-
-
3Gain-
CNGA4-
-
-
-
1Loss-
CNIH2-
-
-
-
1Loss-
CNIH3-
-
-
-
1Loss-
CNIH4-
-
-
-
1Loss-
CNKSR1-
-
-
-
1Loss-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT11-
-
-
-
3Gain-
CNOT3-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNRIP1-
-
-
-
1Loss-
CNST-
-
-
-
1Loss-
CNTD2-
-
-
-
1Loss-
CNTF-
-
-
-
1Loss-
CNTN2-
-
-
-
1Loss-
CNTN3p.L743F
p.R674W
p.S640F
Missense
Missense
Missense
SNP
SNP
SNP
0.425
0.537
0.477
2--
CNTN5-
-
-
-
1Loss-
CNTNAP5-
-
-
-
3Gain-
COA4-
-
-
-
1Loss-
COA5-
-
-
-
3Gain-
COA6-
-
-
-
1Loss-
COBLL1-
-
-
-
3Gain-
COG2-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COL11A1p.P1496L
Missense
SNP
0.321
2--
COL13A1-
-
-
-
1Loss-
COL14A1p.G1722E
Missense
SNP
0.483
2--
COL17A1-
-
-
-
1Loss-
COL1A2p.V567A
p.G574S
Missense
Missense
SNP
SNP
0.531
0.337
3Gain-
COL20A1p.E70K
p.E110K
Missense
Missense
SNP
SNP
0.492
0.429
2--
COL21A1p.K878I
Missense
SNP
0.459
2--
COL24A1p.G1429E
Missense
SNP
0.652
2--
COL25A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL4A3-
-
-
-
3Gain-
COL4A4-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
COL5A3-
-
-
-
1Loss-
COL6A5-
-
-
-
1Loss-
COL6A6p.T1438I
Missense
SNP
0.942
1Loss-
COL8A1-
-
-
-
1Loss-
COLCA2-
-
-
-
1Loss-
COLEC11-
-
-
-
1Loss-
COLEC12p.D719N
Missense
SNP
0.623
3Gain-
COLGALT1-
-
-
-
1Loss-
COMMD1-
-
-
-
1Loss-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPA-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPG1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS4-
-
-
-
1Loss-
COPS7B-
-
-
-
3Gain-
COQ10B-
-
-
-
3Gain-
COQ2-
-
-
-
1Loss-
COQ8A-
-
-
-
1Loss-
COQ8B-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO1B-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX17-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX20-
-
-
-
1Loss-
COX6B1-
-
-
-
1Loss-
COX6B2-
-
-
-
1Loss-
COX7A1-
-
-
-
1Loss-
COX7A2L-
-
-
-
1Loss-
COX7B2-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6p.L214F
Missense
SNP
0.500
2--
CPAMD8p.G810S
Missense
SNP
0.727
1Loss-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
5Amp-
CPLANE2-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE4-
-
-
-
1Loss-
CPO-
-
-
-
3Gain-
CPOX-
-
-
-
1Loss-
CPPED1p.Y220F
Missense
SNP
0.364
2--
CPS1p.S440F
Missense
SNP
0.788
3Gain-
CPSF3p.G18K
Missense
MNP
0.380
1Loss-
CPSF4-
-
-
-
3Gain-
CPSF4Lp.G52E
Missense
SNP
0.515
2--
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1C-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CR1-
-
-
-
1Loss-
CR1L-
-
-
-
1Loss-
CR2-
-
-
-
1Loss-
CRABP2-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRCT1-
-
-
-
1Loss-
CREB1-
-
-
-
3Gain-
CREB3L1-
-
-
-
1Loss-
CREB3L2-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
1Loss-
CREBZF-
-
-
-
1Loss-
CREG2-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRIM1-
-
-
-
1Loss-
CRIPT-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRMP1p.P334S
Missense
SNP
0.614
1Loss-
CRNN-
-
-
-
1Loss-
CROCC-
-
-
-
1Loss-
CROT-
-
-
-
3Gain-
CRP-
-
-
-
1Loss-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRTC2-
-
-
-
1Loss-
CRX-
-
-
-
1Loss-
CRY1p.P319S
Missense
SNP
0.748
2--
CRY2-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYBG3-
-
-
-
1Loss-
CRYGA-
-
-
-
3Gain-
CRYGB-
-
-
-
3Gain-
CRYGC-
-
-
-
3Gain-
CRYGD-
-
-
-
3Gain-
CSp.S451F
Missense
SNP
0.194
2--
CSF2RBp.G6E
p.P118S
Missense
Missense
SNP
SNP
0.483
0.535
2--
CSGALNACT2-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD1p.P1122L
Missense
SNP
0.418
2--
CSMD2p.F308L
Missense
SNP
0.592
2--
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSRNP3-
-
-
-
3Gain-
CSRP1-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CST6-
-
-
-
1Loss-
CSTA-
-
-
-
1Loss-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CSTL1p.N40S
Missense
SNP
0.474
2--
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
3Gain-
CTNNA2-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNND1-
-
-
-
1Loss-
CTNND2-
-
-
-
5Amp-
CTR9-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSE-
-
-
-
1Loss-
CTSF-
-
-
-
1Loss-
CTSK-
-
-
-
1Loss-
CTSO-
-
-
-
1Loss-
CTSS-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
3Gain-
CUL5p.P304S
Missense
SNP
0.736
1Loss-
CUTC-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC22-
-
-
-
3Gain-
CWF19L1-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR4-
-
-
-
3Gain-
CXCR5-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CYB561A3-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R1-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYBRD1-
-
-
-
3Gain-
CYP11B1p.P197S
Missense
SNP
0.318
2--
CYP17A1-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP20A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9p.E148K
Missense
SNP
0.288
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYP51A1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYS1-
-
-
-
1Loss-
CYTH2-
-
-
-
1Loss-
CYTIP-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
DAB2-
-
-
-
5Amp-
DACT3-
-
-
-
1Loss-
DAGLA-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAP-
-
-
-
5Amp-
DAP3-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAPL1-
-
-
-
3Gain-
DAPP1-
-
-
-
1Loss-
DARS-
-
-
-
3Gain-
DAW1-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBI-
-
-
-
3Gain-
DBP-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCAF16-
-
-
-
1Loss-
DCAF17-
-
-
-
3Gain-
DCAF4L1-
-
-
-
1Loss-
DCAF8-
-
-
-
1Loss-
DCBLD2-
-
-
-
1Loss-
DCCp.R446H
p.L880H
Missense
Missense
SNP
SNP
1.000
0.827
1Loss-
DCDC1-
-
-
-
1Loss-
DCDC2C-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
1Loss-
DCST2-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCUN1D4p.P277S
Missense
SNP
0.230
1Loss-
DCUN1D5-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDB1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDR2-
-
-
-
1Loss-
DDX1-
-
-
-
1Loss-
DDX10-
-
-
-
1Loss-
DDX18-
-
-
-
3Gain-
DDX21-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX3Xp.P40S
Missense
SNP
1.000
NDND-
DDX49-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX55p.X134_splice
p.E243K
Splice_Site
Missense
SNP
SNP
0.695
0.303
2--
DDX6-
-
-
-
1Loss-
DDX60-
-
-
-
1Loss-
DDX60Lp.V280G
Missense
SNP
0.343
1Loss-
DEAF1-
-
-
-
1Loss-
DEDD-
-
-
-
1Loss-
DEDD2-
-
-
-
1Loss-
DEGS1-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND2Cp.S114F
Missense
SNP
0.569
2--
DENND4B-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND5Bp.I610V
Missense
SNP
0.674
2--
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DESI2-
-
-
-
1Loss-
DEUP1-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGKBp.D528N
Missense
SNP
0.600
2--
DGKDp.L1076F
Missense
SNP
0.771
2--
DGKI-
-
-
-
3Gain-
DGKQ-
-
-
-
1Loss-
DGKZ-
-
-
-
1Loss-
DGUOK-
-
-
-
1Loss-
DHCR7-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHFR2-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS9-
-
-
-
3Gain-
DHTKD1-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX34-
-
-
-
1Loss-
DHX57-
-
-
-
1Loss-
DHX58p.S585L
Missense
SNP
0.474
2--
DIP2C-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS3p.R108W
Missense
SNP
0.608
2--
DIRC1-
-
-
-
3Gain-
DIRC2-
-
-
-
1Loss-
DIS3L2-
-
-
-
3Gain-
DISC1-
-
-
-
1Loss-
DISP1p.R547C
Missense
SNP
0.639
1Loss-
DIXDC1-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLG2-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP1p.S503F
Missense
SNP
0.568
3Gain-
DLL3-
-
-
-
1Loss-
DLX1-
-
-
-
3Gain-
DLX2-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC2-
-
-
-
1Loss-
DMBT1-
-
-
-
1Loss-
DMKN-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT2p.D298N
Missense
SNP
0.438
2--
DMRTC2-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMWD-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF3-
-
-
-
1Loss-
DNAH14-
-
-
-
1Loss-
DNAH5-
-
-
-
5Amp-
DNAH6-
-
-
-
1Loss-
DNAH7-
-
-
-
3Gain-
DNAH8p.E2071Kfs*28
Frame_Shift_Del
DEL
0.456
2--
DNAJB1-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB13-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB8-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC10-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
5Amp-
DNAJC24-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC5G-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DNASE1L3p.P142L
Missense
SNP
0.511
2--
DNASE2-
-
-
-
1Loss-
DNASE2Bp.I221N
Missense
SNP
0.691
2--
DNER-
-
-
-
3Gain-
DNHD1-
-
-
-
1Loss-
DNM1p.E167K
Missense
SNP
0.482
2--
DNM2-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
3Gain-
DOCK4-
-
-
-
3Gain-
DOCK6-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK1-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPM3-
-
-
-
1Loss-
DPP10-
-
-
-
3Gain-
DPP3-
-
-
-
1Loss-
DPP4-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA2-
-
-
-
1Loss-
DPPA4-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPY19L3-
-
-
-
1Loss-
DPY30-
-
-
-
1Loss-
DPYSp.G62E
Missense
SNP
0.308
2--
DPYSL4-
-
-
-
1Loss-
DPYSL5-
-
-
-
1Loss-
DQX1-
-
-
-
1Loss-
DRAP1-
-
-
-
1Loss-
DRC1-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD3-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG2p.A22T
Missense
SNP
0.485
2--
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
5Amp-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSELp.I697M
Missense
SNP
0.946
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSPP-
-
-
-
1Loss-
DSTYK-
-
-
-
1Loss-
DTD1p.T38S
Missense
SNP
0.519
2--
DTHD1-
-
-
-
1Loss-
DTL-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTX3L-
-
-
-
1Loss-
DTX4-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
1Loss-
DUSP11-
-
-
-
1Loss-
DUSP12-
-
-
-
1Loss-
DUSP13-
-
-
-
1Loss-
DUSP19-
-
-
-
3Gain-
DUSP23-
-
-
-
1Loss-
DUSP27-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1I2-
-
-
-
3Gain-
DYNC2H1-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
1Loss-
DYRK1B-
-
-
-
1Loss-
DYRK3-
-
-
-
1Loss-
DYSF-
-
-
-
1Loss-
DYTN-
-
-
-
3Gain-
DZIP3-
-
-
-
1Loss-
E2F2-
-
-
-
1Loss-
E2F6-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
EAF2-
-
-
-
1Loss-
EBF2p.P58S
Missense
SNP
0.363
2--
EBF3-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECH1-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECM1-
-
-
-
1Loss-
ECSIT-
-
-
-
1Loss-
EDAR-
-
-
-
3Gain-
EDARADD-
-
-
-
1Loss-
EDNRA-
-
-
-
1Loss-
EDRF1p.E390K
Missense
SNP
0.487
1Loss-
EED-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1B2-
-
-
-
3Gain-
EEF1G-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EEFSEC-
-
-
-
1Loss-
EFCAB10-
-
-
-
3Gain-
EFCAB12-
-
-
-
1Loss-
EFCAB2-
-
-
-
1Loss-
EFCC1-
-
-
-
1Loss-
EFEMP1-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EFNA1-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
1Loss-
EFNA4-
-
-
-
1Loss-
EFR3B-
-
-
-
1Loss-
EGFp.Q1112*
Nonsense
SNP
0.309
1Loss-
EGFLAM-
-
-
-
5Amp-
EGLN1-
-
-
-
1Loss-
EGLN2-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR4-
-
-
-
1Loss-
EHBP1-
-
-
-
1Loss-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD2-
-
-
-
1Loss-
EHD3-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID2-
-
-
-
1Loss-
EID2B-
-
-
-
1Loss-
EIF1AD-
-
-
-
1Loss-
EIF2AK2-
-
-
-
1Loss-
EIF2AK3-
-
-
-
1Loss-
EIF2B4-
-
-
-
1Loss-
EIF2D-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3K-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4E-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
3Gain-
EIPR1-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELF2-
-
-
-
1Loss-
ELF3-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELK4-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELMOD2-
-
-
-
1Loss-
ELMOD3-
-
-
-
1Loss-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELSPBP1p.G163R
Missense
SNP
0.250
1Loss-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EMILIN2-
-
-
-
3Gain-
EML2-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML5p.D728N
Missense
SNP
0.454
2--
EML6-
-
-
-
1Loss-
EMP3-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
EMX1-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
EN1-
-
-
-
3Gain-
ENAH-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
3Gain-
ENPEPp.K754R
Missense
SNP
0.616
1Loss-
ENPP2p.P899S
Missense
SNP
0.526
2--
ENPP6-
-
-
-
1Loss-
ENSA-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EP400p.P44L
Missense
SNP
0.250
2--
EPAS1-
-
-
-
1Loss-
EPB41L3-
-
-
-
3Gain-
EPB41L5-
-
-
-
3Gain-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
3Gain-
EPCAM-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA4p.Q156*
Nonsense
SNP
0.159
2--
EPHA5-
-
-
-
1Loss-
EPHA6-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB1-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHX1-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPN1-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPRS-
-
-
-
1Loss-
EPS15L1-
-
-
-
1Loss-
EPS8L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
ERBB4-
-
-
-
3Gain-
ERBINp.S274L
Missense
SNP
0.676
2--
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC3-
-
-
-
3Gain-
ERCC6-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERF-
-
-
-
1Loss-
ERICH2-
-
-
-
3Gain-
ERICH3p.E1129K
p.S282F
Missense
Missense
SNP
SNP
0.361
0.389
2--
ERICH4-
-
-
-
1Loss-
ERLEC1-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMN-
-
-
-
3Gain-
ERO1B-
-
-
-
1Loss-
ERVMER34-1-
-
-
-
1Loss-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESRRG-
-
-
-
1Loss-
ETAA1-
-
-
-
1Loss-
ETFB-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETNK2-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETV2-
-
-
-
1Loss-
ETV3-
-
-
-
1Loss-
ETV3L-
-
-
-
1Loss-
EVA1A-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVX2-
-
-
-
3Gain-
EXO1-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
5Amp-
EXOC3L2-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC6-
-
-
-
1Loss-
EXOC6B-
-
-
-
1Loss-
EXOC8-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC5-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EXT2-
-
-
-
1Loss-
EXTL1-
-
-
-
1Loss-
EYA4p.P235T
Missense
SNP
0.450
2--
EYSp.W3018*
Nonsense
SNP
0.490
2--
F11-
-
-
-
1Loss-
F11R-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FABP2-
-
-
-
1Loss-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FAM107B-
-
-
-
1Loss-
FAM110C-
-
-
-
1Loss-
FAM110D-
-
-
-
1Loss-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM117B-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM124B-
-
-
-
3Gain-
FAM126B-
-
-
-
3Gain-
FAM129C-
-
-
-
1Loss-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
3Gain-
FAM136A-
-
-
-
1Loss-
FAM13A-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151Ap.V31L
Missense
SNP
0.566
2--
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM161A-
-
-
-
1Loss-
FAM162A-
-
-
-
1Loss-
FAM168A-
-
-
-
1Loss-
FAM169Bp.A51T
Missense
SNP
0.411
2--
FAM170B-
-
-
-
1Loss-
FAM171A1p.S68L
Missense
SNP
0.612
1Loss-
FAM171B-
-
-
-
3Gain-
FAM173B-
-
-
-
5Amp-
FAM177B-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM181B-
-
-
-
1Loss-
FAM184Ap.M510T
Missense
SNP
0.533
2--
FAM184B-
-
-
-
1Loss-
FAM187B-
-
-
-
1Loss-
FAM188Ap.K64R
Missense
SNP
0.392
NDND-
FAM189B-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM200B-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM210A-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM21Cp.Q937*
Nonsense
SNP
0.600
NDND-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM237A-
-
-
-
3Gain-
FAM241A-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM43B-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM46Dp.E119K
Missense
SNP
1.000
NDND-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49A-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
1Loss-
FAM71E1-
-
-
-
1Loss-
FAM71E2-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
1Loss-
FAM83E-
-
-
-
1Loss-
FAM84A-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM89A-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FAM98A-
-
-
-
1Loss-
FAM98C-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCL-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAP-
-
-
-
3Gain-
FAR1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASTKD1-
-
-
-
3Gain-
FASTKD2-
-
-
-
3Gain-
FASTKD3-
-
-
-
5Amp-
FAT1-
-
-
-
1Loss-
FAT2p.I2574del
In_Frame_Del
DEL
0.606
2--
FAT3-
-
-
-
1Loss-
FAT4p.D2747N
Missense
SNP
0.681
1Loss-
FAU-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBL-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLN7p.D100N
Missense
SNP
0.178
3Gain-
FBN3-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL15-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL7-
-
-
-
5Amp-
FBXO11-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16p.W219*
Nonsense
SNP
0.471
2--
FBXO17-
-
-
-
1Loss-
FBXO27-
-
-
-
1Loss-
FBXO28-
-
-
-
1Loss-
FBXO3-
-
-
-
1Loss-
FBXO36-
-
-
-
3Gain-
FBXO4-
-
-
-
5Amp-
FBXO40-
-
-
-
1Loss-
FBXO41-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO46p.G95R
Missense
SNP
0.223
1Loss-
FBXO48-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCAMR-
-
-
-
1Loss-
FCAR-
-
-
-
1Loss-
FCER1A-
-
-
-
1Loss-
FCER1G-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCGBP-
-
-
-
1Loss-
FCGR1A-
-
-
-
1Loss-
FCGR2A-
-
-
-
1Loss-
FCGR2B-
-
-
-
1Loss-
FCGR2C-
-
-
-
1Loss-
FCGR3A-
-
-
-
1Loss-
FCGR3B-
-
-
-
1Loss-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCHSD2-
-
-
-
1Loss-
FCMR-
-
-
-
1Loss-
FCRL1-
-
-
-
1Loss-
FCRL2-
-
-
-
1Loss-
FCRL3-
-
-
-
1Loss-
FCRL4-
-
-
-
1Loss-
FCRL5-
-
-
-
1Loss-
FCRL6-
-
-
-
1Loss-
FCRLA-
-
-
-
1Loss-
FCRLB-
-
-
-
1Loss-
FDCSP-
-
-
-
1Loss-
FDPS-
-
-
-
1Loss-
FDX1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER1L5p.H107Y
Missense
SNP
0.216
2--
FERMT3-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZ2-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGF10-
-
-
-
5Amp-
FGF19-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF21-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR3p.Y375C
Missense
SNP
0.701
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FH-
-
-
-
1Loss-
FHAD1-
-
-
-
1Loss-
FHDC1-
-
-
-
1Loss-
FHL2-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FIGLA-
-
-
-
1Loss-
FIGN-
-
-
-
3Gain-
FILIP1Lp.A915V
Missense
SNP
0.760
1Loss-
FIP1L1-
-
-
-
1Loss-
FIZ1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP1B-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP7-
-
-
-
3Gain-
FKBP8-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FLAD1-
-
-
-
1Loss-
FLI1-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLRT1-
-
-
-
1Loss-
FLT3LG-
-
-
-
1Loss-
FLVCR1-
-
-
-
1Loss-
FLYWCH1p.P208S
Missense
SNP
0.678
2--
FMC1-
-
-
-
3Gain-
FMN2-
-
-
-
1Loss-
FMNL2-
-
-
-
3Gain-
FMO5-
-
-
-
1Loss-
FMOD-
-
-
-
1Loss-
FN1-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC10-
-
-
-
1Loss-
FNDC4-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOSB-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXA3-
-
-
-
1Loss-
FOXD4L1-
-
-
-
3Gain-
FOXI2-
-
-
-
1Loss-
FOXI3-
-
-
-
1Loss-
FOXN2-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FPGT-TNNI3Kp.S196A
Missense
SNP
0.356
2--
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FRA10AC1-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM2p.R3007Q
Missense
SNP
0.604
2--
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD5p.Y29N
Missense
SNP
0.484
2--
FRMD8-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRS3p.D348Y
Missense
SNP
0.428
2--
FRYLp.P72S
Missense
SNP
0.644
1Loss-
FRZB-
-
-
-
3Gain-
FSCBp.P460S
p.T420I
p.S177*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.487
0.424
0.442
2--
FSCN3-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSHB-
-
-
-
1Loss-
FSHR-
-
-
-
1Loss-
FSIP2-
-
-
-
3Gain-
FSTL1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL5p.E66K
Missense
SNP
0.301
1Loss-
FTCDNL1-
-
-
-
3Gain-
FTH1-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUT1-
-
-
-
1Loss-
FUT11-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT9p.D228N
Missense
SNP
0.511
2--
FUZ-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD3-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FXYD7-
-
-
-
1Loss-
FYB1-
-
-
-
5Amp-
FZD1-
-
-
-
3Gain-
FZD4-
-
-
-
1Loss-
FZD5-
-
-
-
3Gain-
FZD7-
-
-
-
3Gain-
FZD8-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
G6PC2-
-
-
-
3Gain-
GAB1-
-
-
-
1Loss-
GAB2-
-
-
-
1Loss-
GABPB2-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRD-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRR3-
-
-
-
1Loss-
GAD1-
-
-
-
3Gain-
GAD2-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
1Loss-
GAL3ST3-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT11p.I214Nfs*2
Frame_Shift_Ins
INS
0.298
2--
GALNT13-
-
-
-
3Gain-
GALNT14-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT2-
-
-
-
1Loss-
GALNT3-
-
-
-
3Gain-
GALNT5-
-
-
-
3Gain-
GALNT7-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALP-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GAP43-
-
-
-
1Loss-
GAPDHS-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAREM2-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GATAD2A-
-
-
-
1Loss-
GATAD2B-
-
-
-
1Loss-
GATB-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GBA-
-
-
-
1Loss-
GBA3-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GCp.E431K
Missense
SNP
0.387
1Loss-
GCA-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCC2-
-
-
-
3Gain-
GCDH-
-
-
-
1Loss-
GCFC2-
-
-
-
1Loss-
GCG-
-
-
-
3Gain-
GCKR-
-
-
-
1Loss-
GCSAM-
-
-
-
1Loss-
GCSAML-
-
-
-
1Loss-
GCSAML-AS1-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF7-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
5Amp-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GEMIN6-
-
-
-
1Loss-
GEMIN7-
-
-
-
1Loss-
GEMIN8p.A41V
Missense
SNP
1.000
NDND-
GEN1-
-
-
-
1Loss-
GFPT1-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFY-
-
-
-
1Loss-
GGCX-
-
-
-
1Loss-
GGN-
-
-
-
1Loss-
GGPS1-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
5Amp-
GIF-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GIN1p.N360S
Missense
SNP
0.745
2--
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIPR-
-
-
-
1Loss-
GJA5-
-
-
-
1Loss-
GJA8-
-
-
-
1Loss-
GJC2-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GKN1-
-
-
-
1Loss-
GKN2-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLI2-
-
-
-
3Gain-
GLMP-
-
-
-
1Loss-
GLOD4p.P5L
Missense
SNP
0.444
2--
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLS-
-
-
-
3Gain-
GLUD1-
-
-
-
1Loss-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GMCL1-
-
-
-
1Loss-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAL-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB1-
-
-
-
1Loss-
GNG11-
-
-
-
3Gain-
GNG14-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG4-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNG8-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNLY-
-
-
-
1Loss-
GNPAT-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNPTABp.V1086I
Missense
SNP
0.208
2--
GNRHR-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGB1p.R319K
Missense
SNP
0.966
1Loss-
GOLPH3-
-
-
-
5Amp-
GOLPH3L-
-
-
-
1Loss-
GOLT1A-
-
-
-
1Loss-
GON4L-
-
-
-
1Loss-
GORASP2-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GP6-
-
-
-
1Loss-
GP9-
-
-
-
1Loss-
GPA33-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT3p.G377E
Missense
SNP
0.557
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPATCH2-
-
-
-
1Loss-
GPATCH4-
-
-
-
1Loss-
GPD2-
-
-
-
3Gain-
GPHA2-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPM6A-
-
-
-
1Loss-
GPN1-
-
-
-
1Loss-
GPR1-
-
-
-
3Gain-
GPR108-
-
-
-
1Loss-
GPR137-
-
-
-
1Loss-
GPR137B-
-
-
-
1Loss-
GPR15-
-
-
-
1Loss-
GPR152-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR155-
-
-
-
3Gain-
GPR156-
-
-
-
1Loss-
GPR158-
-
-
-
1Loss-
GPR17-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR32-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
1Loss-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
1Loss-
GPR45-
-
-
-
3Gain-
GPR55-
-
-
-
3Gain-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR89A-
-
-
-
1Loss-
GPR89B-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX5p.P80S
Missense
SNP
0.524
2--
GRAMD1A-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD1C-
-
-
-
1Loss-
GRB14-
-
-
-
3Gain-
GREB1-
-
-
-
1Loss-
GREM2-
-
-
-
1Loss-
GRHL1-
-
-
-
1Loss-
GRHL3-
-
-
-
1Loss-
GRIA2-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIK5-
-
-
-
1Loss-
GRIN2Cp.W369*
Nonsense
SNP
0.432
2--
GRIN2D-
-
-
-
1Loss-
GRIN3Ap.P912S
Missense
SNP
0.425
2--
GRIN3B-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM5-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRWD1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSK3B-
-
-
-
1Loss-
GSTCD-
-
-
-
1Loss-
GSTM5p.G143R
Missense
SNP
0.316
2--
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTDC1-
-
-
-
3Gain-
GTF2A1L-
-
-
-
1Loss-
GTF2E1-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF3C2-
-
-
-
1Loss-
GTF3C3-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP3-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
1Loss-
GUCA1C-
-
-
-
1Loss-
GUCY1A1-
-
-
-
1Loss-
GUCY1A2-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GUK1-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
GVQW3-
-
-
-
1Loss-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPC-
-
-
-
3Gain-
GYPE-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3A-
-
-
-
1Loss-
HAAO-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAMP-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO1p.E120K
Missense
SNP
0.455
2--
HAPLN2-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HAS1-
-
-
-
1Loss-
HAT1-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS5-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HAX1-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCLS1-
-
-
-
1Loss-
HCN1-
-
-
-
5Amp-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
1Loss-
HCST-
-
-
-
1Loss-
HDAC5p.S226F
Missense
SNP
0.388
2--
HDGF-
-
-
-
1Loss-
HDGFL2-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEATR1-
-
-
-
1Loss-
HEATR4p.G340R
Missense
SNP
0.435
2--
HEATR5B-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECTD4p.S234L
Missense
SNP
0.718
2--
HECW2-
-
-
-
3Gain-
HEG1-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZp.Q1511*
Nonsense
SNP
0.398
2--
HEPACAM-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HEPHL1-
-
-
-
1Loss-
HERC2p.E323Q
Missense
SNP
0.456
2--
HERC3-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HGD-
-
-
-
1Loss-
HGF-
-
-
-
3Gain-
HGFACp.G32R
Missense
SNP
0.475
1Loss-
HHAT-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHIPL2-
-
-
-
1Loss-
HHLA2-
-
-
-
1Loss-
HIBCH-
-
-
-
3Gain-
HIF1AN-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HIPK2-
-
-
-
3Gain-
HIPK3-
-
-
-
1Loss-
HIPK4-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
1Loss-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
1Loss-
HIST3H2BB-
-
-
-
1Loss-
HIST3H3-
-
-
-
1Loss-
HJV-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HK2-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLA-DQB2p.P151L
Missense
SNP
0.388
2--
HLA-DRAp.I238F
Missense
SNP
0.459
2--
HLXp.P8L
Missense
SNP
0.241
1Loss-
HMBS-
-
-
-
1Loss-
HMCES-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCS1-
-
-
-
5Amp-
HMGN2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNMT-
-
-
-
3Gain-
HNRNPA3-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPKp.P254L
Missense
SNP
0.377
2--
HNRNPL-
-
-
-
1Loss-
HNRNPLL-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HNRNPR-
-
-
-
1Loss-
HNRNPU-
-
-
-
1Loss-
HNRNPUL1p.A362S
Missense
SNP
0.585
1Loss-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK1p.R288K
Missense
SNP
0.600
2--
HOOK2-
-
-
-
1Loss-
HOPX-
-
-
-
1Loss-
HORMAD1-
-
-
-
1Loss-
HOXD1-
-
-
-
3Gain-
HOXD10-
-
-
-
3Gain-
HOXD11-
-
-
-
3Gain-
HOXD12-
-
-
-
3Gain-
HOXD13-
-
-
-
3Gain-
HOXD3-
-
-
-
3Gain-
HOXD4-
-
-
-
3Gain-
HOXD8-
-
-
-
3Gain-
HOXD9-
-
-
-
3Gain-
HP1BP3-
-
-
-
1Loss-
HPCAL1-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPN-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRC-
-
-
-
1Loss-
HRH4-
-
-
-
1Loss-
HS1BP3-
-
-
-
1Loss-
HS3ST1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B7-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA6-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB6-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPBAP1-
-
-
-
1Loss-
HSPBP1-
-
-
-
1Loss-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HSPG2-
-
-
-
1Loss-
HTATIP2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR2B-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3Ep.X94_splice
Splice_Site
SNP
0.449
2--
HTR6-
-
-
-
1Loss-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA2-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUWE1p.V3587E
Missense
SNP
0.969
NDND-
HYAL4-
-
-
-
3Gain-
HYDINp.E4601K
p.E3785K
Missense
Missense
SNP
SNP
0.296
0.320
2--
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IAH1-
-
-
-
1Loss-
IARS2-
-
-
-
1Loss-
IBA57-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICA1L-
-
-
-
3Gain-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5p.R10Q
Missense
SNP
0.357
1Loss-
ICE1-
-
-
-
5Amp-
ICMT-
-
-
-
1Loss-
ICOS-
-
-
-
3Gain-
ID2-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDUAp.Q63*
Nonsense
SNP
0.724
1Loss-
IER2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI16-
-
-
-
1Loss-
IFI30-
-
-
-
1Loss-
IFIH1-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT122-
-
-
-
1Loss-
IFT172-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT57-
-
-
-
1Loss-
IGDCC3p.D713N
Missense
SNP
0.448
2--
IGF2-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGFN1-
-
-
-
1Loss-
IGHMBP2-
-
-
-
1Loss-
IGHV2-26p.S91F
Missense
SNP
0.494
NDND-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLON5-
-
-
-
1Loss-
IGSF11-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF22p.P802T
Missense
SNP
0.590
1Loss-
IGSF23-
-
-
-
1Loss-
IGSF3p.R654P
Missense
SNP
0.536
2--
IGSF8-
-
-
-
1Loss-
IGSF9-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IKBKAPp.E740K
Missense
SNP
0.488
NDND-
IKBKE-
-
-
-
1Loss-
IKZF2-
-
-
-
3Gain-
IKZF5-
-
-
-
1Loss-
IL10-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL11-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17Bp.G18E
Missense
SNP
0.615
2--
IL17RCp.Q383Rfs*50
Frame_Shift_Del
DEL
0.454
2--
IL17RDp.G718A
Missense
SNP
0.447
2--
IL18-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL19-
-
-
-
1Loss-
IL1A-
-
-
-
3Gain-
IL1B-
-
-
-
3Gain-
IL1F10-
-
-
-
3Gain-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL1RN-
-
-
-
3Gain-
IL2-
-
-
-
1Loss-
IL20-
-
-
-
1Loss-
IL21-
-
-
-
1Loss-
IL22RA1-
-
-
-
1Loss-
IL24-
-
-
-
1Loss-
IL27p.G121R
Missense
SNP
0.590
2--
IL27RA-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL36A-
-
-
-
3Gain-
IL36B-
-
-
-
3Gain-
IL36G-
-
-
-
3Gain-
IL36RN-
-
-
-
3Gain-
IL37-
-
-
-
3Gain-
IL4I1-
-
-
-
1Loss-
IL6R-
-
-
-
1Loss-
IL7R-
-
-
-
5Amp-
ILDR1-
-
-
-
1Loss-
ILDR2-
-
-
-
1Loss-
ILF2-
-
-
-
1Loss-
ILF3-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMMT-
-
-
-
1Loss-
IMP4p.E74K
Missense
SNP
0.205
2--
IMPA2-
-
-
-
3Gain-
IMPACTp.L77P
Missense
SNP
1.000
1Loss-
IMPDH1-
-
-
-
3Gain-
IMPG2-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INAFM1-
-
-
-
1Loss-
INAVA-
-
-
-
1Loss-
INCENPp.R333C
Missense
SNP
0.335
1Loss-
ING2-
-
-
-
1Loss-
ING3p.P162S
Missense
SNP
0.295
3Gain-
INHBB-
-
-
-
3Gain-
INO80Bp.S192F
Missense
SNP
0.646
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
3Gain-
INPP1-
-
-
-
3Gain-
INPP4A-
-
-
-
3Gain-
INPP4B-
-
-
-
1Loss-
INPP5A-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5Jp.S280F
Missense
SNP
0.520
2--
INPPL1-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG2-
-
-
-
3Gain-
INSL3-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSRR-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INTS11-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS3-
-
-
-
1Loss-
INTS4-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INTS7p.L688Ffs*13
Frame_Shift_Del
DEL
0.319
1Loss-
INTU-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO7p.L547P
Missense
SNP
0.286
1Loss-
IPO9-
-
-
-
1Loss-
IQCB1p.X470_splice
Splice_Site
SNP
1.000
1Loss-
IQCN-
-
-
-
1Loss-
IQGAP1p.G1342R
Missense
SNP
0.573
2--
IQGAP3-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IRF2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS1-
-
-
-
3Gain-
IRX1-
-
-
-
5Amp-
IRX2-
-
-
-
5Amp-
IRX4-
-
-
-
5Amp-
ISG15-
-
-
-
1Loss-
ISG20L2-
-
-
-
1Loss-
ISOC2-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITGA10-
-
-
-
1Loss-
ITGA4-
-
-
-
3Gain-
ITGA6-
-
-
-
3Gain-
ITGA8p.K253*
Nonsense
SNP
0.696
1Loss-
ITGAVp.D379N
Missense
SNP
0.795
3Gain-
ITGB1-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
1Loss-
ITGB4p.F1145I
Missense
SNP
0.503
2--
ITGB5-
-
-
-
1Loss-
ITGB6-
-
-
-
3Gain-
ITIH2-
-
-
-
1Loss-
ITIH5p.R215H
Missense
SNP
0.667
1Loss-
ITLN1-
-
-
-
1Loss-
ITLN2-
-
-
-
1Loss-
ITM2C-
-
-
-
3Gain-
ITPKB-
-
-
-
1Loss-
ITPKC-
-
-
-
1Loss-
ITPRID2-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
ITSN2-
-
-
-
1Loss-
IVL-
-
-
-
1Loss-
IWS1-
-
-
-
3Gain-
IZUMO1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
1Loss-
IZUMO2-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JARID2p.G876E
Missense
SNP
0.974
2--
JCAD-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
1Loss-
JMJD6p.D368N
Missense
SNP
0.615
2--
JOSD2-
-
-
-
1Loss-
JRKL-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
1Loss-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KALRN-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANSL1Lp.D185V
Missense
SNP
0.217
3Gain-
KAT5p.R3Q
Missense
SNP
0.208
1Loss-
KAT6B-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZNp.S389F
Missense
SNP
0.503
1Loss-
KBTBD12-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KCMF1-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNA7-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNC1-
-
-
-
1Loss-
KCNC3-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNE3-
-
-
-
1Loss-
KCNE4-
-
-
-
3Gain-
KCNF1-
-
-
-
1Loss-
KCNG1p.Y40H
Missense
SNP
0.448
2--
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNH1-
-
-
-
1Loss-
KCNH7-
-
-
-
3Gain-
KCNIP2-
-
-
-
1Loss-
KCNIP4p.M216I
Missense
SNP
0.357
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ14-
-
-
-
1Loss-
KCNJ3-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ9-
-
-
-
1Loss-
KCNK1-
-
-
-
1Loss-
KCNK12-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK2-
-
-
-
1Loss-
KCNK3-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK6-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNN1p.P86S
Missense
SNP
0.333
1Loss-
KCNN3-
-
-
-
1Loss-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2p.G92R
Missense
SNP
0.467
2--
KCNQ3p.P574L
Missense
SNP
0.433
2--
KCNS3-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD1-
-
-
-
1Loss-
KCTD14-
-
-
-
1Loss-
KCTD15-
-
-
-
1Loss-
KCTD18-
-
-
-
3Gain-
KCTD21-
-
-
-
1Loss-
KCTD3-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KDELC2-
-
-
-
1Loss-
KDELR1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM2A-
-
-
-
1Loss-
KDM3A-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5B-
-
-
-
1Loss-
KDM6Bp.G964E
Missense
SNP
0.976
2--
KDM7A-
-
-
-
3Gain-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KHDC4-
-
-
-
1Loss-
KHK-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0232-
-
-
-
1Loss-
KIAA0355-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
1Loss-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
1Loss-
KIAA1462p.S1123F
Missense
SNP
0.314
NDND-
KIAA1468p.R572K
Missense
SNP
0.887
NDND-
KIAA1549p.E499K
Missense
SNP
0.439
3Gain-
KIAA1549L-
-
-
-
1Loss-
KIAA1715p.E320K
Missense
SNP
0.700
NDND-
KIAA1841-
-
-
-
1Loss-
KIAA2012p.K855Q
Missense
SNP
0.172
3Gain-
KIDINS220-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF17-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF1Ap.R985C
Missense
SNP
0.170
2--
KIF1BP-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21B-
-
-
-
1Loss-
KIF26B-
-
-
-
1Loss-
KIF3C-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KIR2DL1-
-
-
-
1Loss-
KIR2DL3p.G64R
Missense
SNP
0.251
1Loss-
KIR2DL4-
-
-
-
1Loss-
KIR3DL1p.P432S
Missense
SNP
0.589
1Loss-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
1Loss-
KIRREL1-
-
-
-
1Loss-
KIRREL2-
-
-
-
1Loss-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KIT-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLC2-
-
-
-
1Loss-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF11-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC7A-
-
-
-
1Loss-
KLHDC8Ap.S111N
Missense
SNP
0.523
1Loss-
KLHDC9-
-
-
-
1Loss-
KLHL12-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL17-
-
-
-
1Loss-
KLHL2-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL23-
-
-
-
3Gain-
KLHL26-
-
-
-
1Loss-
KLHL29-
-
-
-
1Loss-
KLHL33p.P199S
Missense
SNP
0.458
2--
KLHL35-
-
-
-
1Loss-
KLHL41-
-
-
-
3Gain-
KLHL5-
-
-
-
1Loss-
KLHL8-
-
-
-
1Loss-
KLK1-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK15-
-
-
-
1Loss-
KLK2-
-
-
-
1Loss-
KLK3-
-
-
-
1Loss-
KLK4-
-
-
-
1Loss-
KLK5-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMO-
-
-
-
1Loss-
KMT2A-
-
-
-
1Loss-
KMT2B-
-
-
-
1Loss-
KMT2E-
-
-
-
3Gain-
KMT5B-
-
-
-
1Loss-
KMT5C-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KPNA1-
-
-
-
1Loss-
KPNA3p.D59Ifs*13
Frame_Shift_Del
DEL
0.476
2--
KPNA7-
-
-
-
3Gain-
KPRP-
-
-
-
1Loss-
KPTNp.L46F
Missense
SNP
0.526
1Loss-
KRCC1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRT39p.Q129*
Nonsense
SNP
0.511
2--
KRT5p.X406_splice
p.E68K
Splice_Site
Missense
SNP
SNP
0.729
0.241
2--
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTCAP2-
-
-
-
1Loss-
KRTCAP3-
-
-
-
1Loss-
KRTDAP-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
KY-
-
-
-
1Loss-
KYNU-
-
-
-
3Gain-
L34079.1-
-
-
-
1Loss-
L3MBTL3p.G562R
Missense
SNP
0.489
2--
L3MBTL4-
-
-
-
3Gain-
LACTBL1-
-
-
-
1Loss-
LAD1-
-
-
-
1Loss-
LAIR1-
-
-
-
1Loss-
LAIR2-
-
-
-
1Loss-
LAMA1-
-
-
-
3Gain-
LAMA3-
-
-
-
1Loss-
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
1Loss-
LAMB4-
-
-
-
3Gain-
LAMTOR1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
1Loss-
LAMTOR3-
-
-
-
1Loss-
LANCL1-
-
-
-
3Gain-
LAP3-
-
-
-
1Loss-
LAPTM4A-
-
-
-
1Loss-
LARGE2p.Q503*
Nonsense
SNP
0.330
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LAX1-
-
-
-
1Loss-
LAYNp.Q283*
Nonsense
SNP
0.646
1Loss-
LBH-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LBR-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LBX2-
-
-
-
1Loss-
LCE1A-
-
-
-
1Loss-
LCE1B-
-
-
-
1Loss-
LCE1C-
-
-
-
1Loss-
LCE1E-
-
-
-
1Loss-
LCE1F-
-
-
-
1Loss-
LCE2A-
-
-
-
1Loss-
LCE2B-
-
-
-
1Loss-
LCE2C-
-
-
-
1Loss-
LCE2D-
-
-
-
1Loss-
LCE3A-
-
-
-
1Loss-
LCE3D-
-
-
-
1Loss-
LCE3E-
-
-
-
1Loss-
LCE4A-
-
-
-
1Loss-
LCE5A-
-
-
-
1Loss-
LCE6A-
-
-
-
1Loss-
LCLAT1-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LCT-
-
-
-
3Gain-
LDAH-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LDLRAD4-
-
-
-
3Gain-
LDLRAP1-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEFTY1-
-
-
-
1Loss-
LEFTY2-
-
-
-
1Loss-
LELP1-
-
-
-
1Loss-
LEMD1-
-
-
-
1Loss-
LENEP-
-
-
-
1Loss-
LENG1-
-
-
-
1Loss-
LENG8-
-
-
-
1Loss-
LENG9-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LETM1-
-
-
-
1Loss-
LEUTX-
-
-
-
1Loss-
LGALS12-
-
-
-
1Loss-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS4p.L108V
Missense
SNP
0.240
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGALS8-
-
-
-
1Loss-
LGALSL-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI4-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGR6-
-
-
-
1Loss-
LHB-
-
-
-
1Loss-
LHCGR-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHPP-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIFR-
-
-
-
5Amp-
LIG1-
-
-
-
1Loss-
LILRA1-
-
-
-
1Loss-
LILRA2-
-
-
-
1Loss-
LILRA4-
-
-
-
1Loss-
LILRA5-
-
-
-
1Loss-
LILRA6-
-
-
-
1Loss-
LILRB1-
-
-
-
1Loss-
LILRB2-
-
-
-
1Loss-
LILRB3-
-
-
-
1Loss-
LILRB4-
-
-
-
1Loss-
LILRB5-
-
-
-
1Loss-
LIM2-
-
-
-
1Loss-
LIMCH1-
-
-
-
1Loss-
LIMS1-
-
-
-
3Gain-
LIMS2-
-
-
-
3Gain-
LIMS3-
-
-
-
3Gain-
LIMS3-LOC440895-
-
-
-
3Gain-
LIMS4-
-
-
-
3Gain-
LIN28A-
-
-
-
1Loss-
LIN37-
-
-
-
1Loss-
LIN52p.W3*
Nonsense
SNP
0.475
2--
LIN54-
-
-
-
1Loss-
LIN7Bp.*116Yext*?
Nonstop
SNP
0.211
1Loss-
LIN7C-
-
-
-
1Loss-
LIN9-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPE-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
3Gain-
LIPT2p.G186E
Missense
SNP
0.286
1Loss-
LIX1L-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMBRD2-
-
-
-
5Amp-
LMNA-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMOD1-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMTK2p.G1084D
Missense
SNP
0.366
3Gain-
LMTK3-
-
-
-
1Loss-
LMX1A-
-
-
-
1Loss-
LNP1-
-
-
-
1Loss-
LNPK-
-
-
-
3Gain-
LNX1-
-
-
-
1Loss-
LONP1-
-
-
-
1Loss-
LONRF2-
-
-
-
3Gain-
LOR-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL3-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPCAT1-
-
-
-
5Amp-
LPGAT1-
-
-
-
1Loss-
LPIN1-
-
-
-
1Loss-
LPIN2-
-
-
-
3Gain-
LPOp.R544K
Missense
SNP
0.385
2--
LPXN-
-
-
-
1Loss-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH3p.L790I
Missense
SNP
0.490
2--
LRFN1-
-
-
-
1Loss-
LRFN3-
-
-
-
1Loss-
LRFN4-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRP1B-
-
-
-
3Gain-
LRP2-
-
-
-
3Gain-
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP5-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRPPRC-
-
-
-
1Loss-
LRRC10B-
-
-
-
1Loss-
LRRC14B-
-
-
-
5Amp-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC30p.P15L
Missense
SNP
0.671
3Gain-
LRRC32-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC47-
-
-
-
1Loss-
LRRC4B-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC52-
-
-
-
1Loss-
LRRC55-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC58-
-
-
-
1Loss-
LRRC66-
-
-
-
1Loss-
LRRC71-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRD1-
-
-
-
3Gain-
LRRN2-
-
-
-
1Loss-
LRRN3-
-
-
-
3Gain-
LRRN4CL-
-
-
-
1Loss-
LRRTM1-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRRTM4-
-
-
-
1Loss-
LRTOMT-
-
-
-
1Loss-
LSAMP-
-
-
-
1Loss-
LSM14A-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM6-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSP1-
-
-
-
1Loss-
LSR-
-
-
-
1Loss-
LTBP1-
-
-
-
1Loss-
LTBP3-
-
-
-
1Loss-
LTBP4-
-
-
-
1Loss-
LTO1-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUZP1-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LY75-
-
-
-
3Gain-
LY75-CD302-
-
-
-
3Gain-
LY9-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD4-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPD6-
-
-
-
3Gain-
LYPD6Bp.P205L
Missense
SNP
0.149
3Gain-
LYPD8-
-
-
-
1Loss-
LYPLA2-
-
-
-
1Loss-
LYPLAL1-
-
-
-
1Loss-
LYSMD1-
-
-
-
1Loss-
LYST-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
M1AP-
-
-
-
1Loss-
MAATS1-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MACO1-
-
-
-
1Loss-
MACROD1-
-
-
-
1Loss-
MAD2L1-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAEL-
-
-
-
1Loss-
MAG-
-
-
-
1Loss-
MAGI2p.S8F
p.S58N
Missense
Missense
SNP
SNP
0.381
0.352
3Gain-
MAIP1-
-
-
-
3Gain-
MAJIN-
-
-
-
1Loss-
MALL-
-
-
-
3Gain-
MALRD1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAMSTR-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MAP10-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2-
-
-
-
3Gain-
MAP2K2-
-
-
-
1Loss-
MAP2K6p.P151S
Missense
SNP
0.474
2--
MAP2K7-
-
-
-
1Loss-
MAP3K10-
-
-
-
1Loss-
MAP3K11-
-
-
-
1Loss-
MAP3K19-
-
-
-
3Gain-
MAP3K2-
-
-
-
3Gain-
MAP3K20-
-
-
-
3Gain-
MAP3K21-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP4K1-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP4K3-
-
-
-
1Loss-
MAP4K4-
-
-
-
3Gain-
MAP6-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MAPRE3-
-
-
-
1Loss-
MARC1-
-
-
-
1Loss-
MARC2-
-
-
-
1Loss-
MARCH1-
-
-
-
1Loss-
MARCH11-
-
-
-
5Amp-
MARCH2-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
5Amp-
MARCH7-
-
-
-
3Gain-
MARCH8-
-
-
-
1Loss-
MARCOp.P294S
Missense
SNP
0.771
3Gain-
MARK1-
-
-
-
1Loss-
MARK2-
-
-
-
1Loss-
MARK4-
-
-
-
1Loss-
MARS2-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST3p.L103F
Missense
SNP
0.382
1Loss-
MASTL-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBD5-
-
-
-
3Gain-
MBL2-
-
-
-
1Loss-
MBOAT2-
-
-
-
1Loss-
MBOAT7-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
3Gain-
MCAM-
-
-
-
1Loss-
MCEE-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2Lp.D284N
Missense
SNP
0.427
2--
MCFD2-
-
-
-
1Loss-
MCL1-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
1Loss-
MCM6-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCRS1p.S121G
Missense
SNP
0.292
2--
MCU-
-
-
-
1Loss-
MCUB-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDH1-
-
-
-
1Loss-
MDH1B-
-
-
-
3Gain-
MDK-
-
-
-
1Loss-
MDM4-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MED1p.P999L
Missense
SNP
0.532
2--
MED10-
-
-
-
5Amp-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
1Loss-
MED19-
-
-
-
1Loss-
MED25-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED29-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2D-
-
-
-
1Loss-
MEGF6-
-
-
-
1Loss-
MEGF8-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MEIS1-
-
-
-
1Loss-
MEIS3-
-
-
-
1Loss-
MEMO1-
-
-
-
1Loss-
MEN1-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MERTK-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1-
-
-
-
1Loss-
METAP1D-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
1Loss-
METTL21A-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL4-
-
-
-
3Gain-
METTL5-
-
-
-
3Gain-
METTL8-
-
-
-
3Gain-
MEX3A-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFF-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD2B-
-
-
-
1Loss-
MFSD4A-
-
-
-
1Loss-
MFSD6-
-
-
-
3Gain-
MFSD8-
-
-
-
1Loss-
MFSD9-
-
-
-
3Gain-
MGARP-
-
-
-
1Loss-
MGAT4A-
-
-
-
3Gain-
MGAT4D-
-
-
-
1Loss-
MGLL-
-
-
-
1Loss-
MGMT-
-
-
-
1Loss-
MGST1p.X42_splice
Splice_Site
SNP
0.789
2--
MGST2-
-
-
-
1Loss-
MGST3-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MIA3-
-
-
-
1Loss-
MIB2-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MINDY1-
-
-
-
1Loss-
MINDY3-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITD1-
-
-
-
3Gain-
MITFp.R60P
Missense
SNP
0.454
2--
MIXL1-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT11-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMADHC-
-
-
-
3Gain-
MMEL1-
-
-
-
1Loss-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMP23B-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MMS22Lp.G831R
p.T356I
Missense
Missense
SNP
SNP
0.469
0.521
2--
MND1-
-
-
-
1Loss-
MNDA-
-
-
-
1Loss-
MOB1A-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB4-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOGAT1-
-
-
-
3Gain-
MOGAT2-
-
-
-
1Loss-
MOGS-
-
-
-
1Loss-
MORC1-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPHOSPH10-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP4-
-
-
-
3Gain-
MPP7p.K196Ffs*11
Frame_Shift_Del
DEL
0.182
1Loss-
MPPE1-
-
-
-
3Gain-
MPPED2-
-
-
-
1Loss-
MPV17-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZ-
-
-
-
1Loss-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAPp.L148F
Missense
SNP
0.458
2--
MRC1p.W714*
Nonsense
SNP
0.337
1Loss-
MRE11-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2B-
-
-
-
5Amp-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL19-
-
-
-
1Loss-
MRPL20-
-
-
-
1Loss-
MRPL21-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
1Loss-
MRPL3-
-
-
-
1Loss-
MRPL30-
-
-
-
3Gain-
MRPL33-
-
-
-
1Loss-
MRPL34-
-
-
-
1Loss-
MRPL35-
-
-
-
1Loss-
MRPL36-
-
-
-
5Amp-
MRPL4-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
3Gain-
MRPL48-
-
-
-
1Loss-
MRPL49p.G133E
Missense
SNP
0.286
1Loss-
MRPL53-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
1Loss-
MRPL9-
-
-
-
1Loss-
MRPS12-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
1Loss-
MRPS30-
-
-
-
5Amp-
MRPS9-
-
-
-
3Gain-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14p.S410F
Missense
SNP
0.337
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSGN1-
-
-
-
1Loss-
MSH2-
-
-
-
1Loss-
MSH6-
-
-
-
1Loss-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MSTN-
-
-
-
3Gain-
MSTO1-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MT1HL1-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTA3-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTCL1-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTFR1L-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTHFD2-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTIF2-
-
-
-
1Loss-
MTMR11-
-
-
-
1Loss-
MTMR12p.E581I
Missense
MNP
0.824
5Amp-
MTMR2-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTORp.L1642F
Missense
SNP
0.532
2--
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
1Loss-
MTRR-
-
-
-
5Amp-
MTTP-
-
-
-
1Loss-
MTX1-
-
-
-
1Loss-
MTX2-
-
-
-
3Gain-
MUC1-
-
-
-
1Loss-
MUC13-
-
-
-
1Loss-
MUC15-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC17p.T452I
p.G2974N
Missense
Missense
SNP
MNP
0.366
0.350
2--
MUC2-
-
-
-
1Loss-
MUC4p.N3055T
Missense
SNP
0.429
2--
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUC7-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MXD1-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MXRA8-
-
-
-
1Loss-
MYADM-
-
-
-
1Loss-
MYBPC2p.S255N
Missense
SNP
0.292
1Loss-
MYBPC3-
-
-
-
1Loss-
MYBPH-
-
-
-
1Loss-
MYCN-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEOV-
-
-
-
1Loss-
MYH1p.M1639I
Missense
SNP
0.570
2--
MYH14-
-
-
-
1Loss-
MYH15-
-
-
-
1Loss-
MYH4p.S1554F
Missense
SNP
0.984
2--
MYL1-
-
-
-
3Gain-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYLK-
-
-
-
1Loss-
MYO10-
-
-
-
5Amp-
MYO16p.S473F
Missense
SNP
0.446
2--
MYO18Ap.P163S
Missense
SNP
0.379
2--
MYO18Bp.D2373N
Missense
SNP
0.615
2--
MYO1B-
-
-
-
3Gain-
MYO1Ep.L909V
Missense
SNP
0.461
2--
MYO1F-
-
-
-
1Loss-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO6p.H548Y
Missense
SNP
0.428
2--
MYO7A-
-
-
-
1Loss-
MYO7B-
-
-
-
3Gain-
MYO9B-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOG-
-
-
-
1Loss-
MYOM1p.W1263*
Nonsense
SNP
0.308
3Gain-
MYOM3-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYPNp.G1026R
Missense
SNP
0.298
1Loss-
MYPOP-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYT1p.S932L
p.S935F
Missense
Missense
SNP
SNP
0.446
0.445
2--
MYT1L-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA50-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAB1-
-
-
-
3Gain-
NABP1-
-
-
-
3Gain-
NACC1-
-
-
-
1Loss-
NADK-
-
-
-
1Loss-
NADK2-
-
-
-
5Amp-
NADSYN1-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NAGK-
-
-
-
1Loss-
NAGLUp.P286L
Missense
SNP
0.489
2--
NALCNp.X1635_splice
Splice_Site
SNP
0.586
2--
NAMPT-
-
-
-
3Gain-
NANOS1-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAPG-
-
-
-
3Gain-
NAPSA-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAT14-
-
-
-
1Loss-
NAT8-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NAV1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAXE-
-
-
-
1Loss-
NBAS-
-
-
-
1Loss-
NBEAL1-
-
-
-
3Gain-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
1Loss-
NBPF11-
-
-
-
1Loss-
NBPF12-
-
-
-
1Loss-
NBPF14-
-
-
-
1Loss-
NBPF15-
-
-
-
1Loss-
NBPF19-
-
-
-
1Loss-
NBPF20-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBPF9-
-
-
-
1Loss-
NCAM1-
-
-
-
1Loss-
NCAM2p.E654K
Missense
SNP
0.484
2--
NCAN-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCCRP1-
-
-
-
1Loss-
NCK2-
-
-
-
3Gain-
NCKAP1-
-
-
-
3Gain-
NCKAP5Lp.T816Ffs*24
p.Q217*
Frame_Shift_Del
Nonsense
DEL
SNP
0.174
0.591
2--
NCL-
-
-
-
3Gain-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA1-
-
-
-
1Loss-
NCOA3p.P612F
Missense
MNP
0.455
2--
NCOA4-
-
-
-
1Loss-
NCOR1p.L200F
Missense
SNP
1.000
2--
NCOR2p.G2081R
Missense
SNP
0.429
2--
NCR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCSTN-
-
-
-
1Loss-
NDC80-
-
-
-
3Gain-
NDNF-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA3-
-
-
-
1Loss-
NDUFA5-
-
-
-
3Gain-
NDUFA7-
-
-
-
1Loss-
NDUFAF7-
-
-
-
1Loss-
NDUFB4-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFC1-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS1-
-
-
-
3Gain-
NDUFS2-
-
-
-
1Loss-
NDUFS3-
-
-
-
1Loss-
NDUFS6-
-
-
-
5Amp-
NDUFS7p.P137S
Missense
SNP
0.360
1Loss-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NDUFV2-
-
-
-
3Gain-
NEB-
-
-
-
3Gain-
NEBL-
-
-
-
1LossAL158209.1--NEBL
NECAP2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NECTIN3-
-
-
-
1Loss-
NECTIN4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEGR1p.G270R
Missense
SNP
0.430
2--
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK11-
-
-
-
1Loss-
NEK2-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NEMP2-
-
-
-
3Gain-
NENF-
-
-
-
1Loss-
NEPRO-
-
-
-
1Loss-
NES-
-
-
-
1Loss-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEUROD1-
-
-
-
3Gain-
NEUROG2-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NF1p.M799T
Missense
SNP
0.535
2--
NFASC-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFE2L2-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKB1-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIB-
-
-
-
1Loss-
NFKBIDp.P23S
Missense
SNP
0.342
1Loss-
NFKBIZ-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFU1-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NHLH1-
-
-
-
1Loss-
NHLRC2-
-
-
-
1Loss-
NID1-
-
-
-
1Loss-
NID2p.T1033I
Missense
SNP
0.487
2--
NIF3L1-
-
-
-
3Gain-
NIFK-
-
-
-
3Gain-
NIM1K-
-
-
-
5Amp-
NIPAL1-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPBL-
-
-
-
5Amp-
NIT1-
-
-
-
1Loss-
NIT2-
-
-
-
1Loss-
NKAPD1-
-
-
-
1Loss-
NKD2-
-
-
-
5Amp-
NKG7-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NLRP10p.P539S
Missense
SNP
0.376
1Loss-
NLRP11p.P826S
Missense
SNP
0.629
1Loss-
NLRP12-
-
-
-
1Loss-
NLRP13p.D699N
Missense
SNP
0.240
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP2p.S85F
Missense
SNP
0.605
1Loss-
NLRP3-
-
-
-
1Loss-
NLRP4-
-
-
-
1Loss-
NLRP5-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
1Loss-
NLRP8p.Q624L
Missense
SNP
0.412
1Loss-
NLRP9-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMI-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMS-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NMUp.P126R
Missense
SNP
0.634
1Loss-
NMUR1-
-
-
-
3Gain-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
5Amp-
NOA1-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOCT-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOL10-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NONOp.Q284L
Missense
SNP
0.741
NDND-
NOP14-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOP58-
-
-
-
3Gain-
NOS1AP-
-
-
-
1Loss-
NOSIP-
-
-
-
1Loss-
NOSTRIN-
-
-
-
3Gain-
NOTCH1p.S1889F
p.Q1547*
Missense
Nonsense
SNP
SNP
0.320
0.358
2--
NOTCH2NLA-
-
-
-
1Loss-
NOTCH3p.T612I
Missense
SNP
0.305
1Loss-
NOTO-
-
-
-
1Loss-
NOTUMp.L249R
Missense
SNP
0.454
2--
NOVA2-
-
-
-
1Loss-
NOX3p.T192Sfs*79
Frame_Shift_Del
DEL
0.465
2--
NOX4-
-
-
-
1Loss-
NPAP1p.P1014S
Missense
SNP
0.528
2--
NPAS1-
-
-
-
1Loss-
NPAS2-
-
-
-
3Gain-
NPAS4-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHP1-
-
-
-
3Gain-
NPHP3-
-
-
-
1Loss-
NPHP3-ACAD11-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPHS1-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPC-
-
-
-
3Gain-
NPR1-
-
-
-
1Loss-
NPR3-
-
-
-
5Amp-
NPS-
-
-
-
1Loss-
NPTX2-
-
-
-
3Gain-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1I2-
-
-
-
1Loss-
NR1I3-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A2-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP1-
-
-
-
1Loss-
NRCAMp.E1211K
Missense
SNP
0.396
3Gain-
NRF1-
-
-
-
3Gain-
NRG3-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
3Gain-
NRSN1p.E99D
Missense
SNP
0.996
2--
NRTN-
-
-
-
1Loss-
NRXN1-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSFp.K687N
Missense
SNP
0.484
2--
NSG1-
-
-
-
1Loss-
NSL1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1p.L540M
Missense
SNP
0.486
2--
NSUN2-
-
-
-
5Amp-
NSUN3-
-
-
-
1Loss-
NSUN6-
-
-
-
1Loss-
NSUN7-
-
-
-
1Loss-
NT5C1B-
-
-
-
1Loss-
NT5C1B-RDH14-
-
-
-
1Loss-
NT5C2-
-
-
-
1Loss-
NT5DC4-
-
-
-
3Gain-
NTF4-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN5-
-
-
-
1Loss-
NTPCR-
-
-
-
1Loss-
NTRK1-
-
-
-
1Loss-
NTSR2-
-
-
-
1Loss-
NUAK2-
-
-
-
1Loss-
NUCB1-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUCKS1-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT16-
-
-
-
1Loss-
NUDT17-
-
-
-
1Loss-
NUDT19-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT4B-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUF2-
-
-
-
1Loss-
NUMA1-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP133-
-
-
-
1Loss-
NUP155p.P1002S
Missense
SNP
0.165
5Amp-
NUP160-
-
-
-
1Loss-
NUP205-
-
-
-
3Gain-
NUP210L-
-
-
-
1Loss-
NUP35-
-
-
-
3Gain-
NUP54-
-
-
-
1Loss-
NUP62-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUTM2D-
-
-
-
1Loss-
NVL-
-
-
-
1Loss-
NWD1-
-
-
-
1Loss-
NWD2-
-
-
-
1Loss-
NXF1-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE3-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXPH2-
-
-
-
3Gain-
NYAP2-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ3-
-
-
-
1Loss-
OBSCN-
-
-
-
1Loss-
OBSL1p.D803N
Missense
SNP
0.224
2--
OCEL1-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCM2-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODC1-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLA1-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2Bp.D590N
Missense
SNP
0.562
1Loss-
OMP-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPA3-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
1Loss-
OPN4-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OPTC-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10J1-
-
-
-
1Loss-
OR10J3-
-
-
-
1Loss-
OR10J5-
-
-
-
1Loss-
OR10K1-
-
-
-
1Loss-
OR10K2-
-
-
-
1Loss-
OR10P1p.P311S
Missense
SNP
0.641
2--
OR10Q1p.M41I
Missense
SNP
0.579
1Loss-
OR10R2-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
1Loss-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR10X1-
-
-
-
1Loss-
OR10Z1-
-
-
-
1Loss-
OR11G2p.S205F
Missense
SNP
0.438
2--
OR11L1-
-
-
-
1Loss-
OR13A1-
-
-
-
1Loss-
OR13G1-
-
-
-
1Loss-
OR14A16-
-
-
-
1Loss-
OR14A2-
-
-
-
1Loss-
OR14C36-
-
-
-
1Loss-
OR14I1-
-
-
-
1Loss-
OR14K1-
-
-
-
1Loss-
OR1C1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
1Loss-
OR2AK2-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2B11-
-
-
-
1Loss-
OR2C3-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2G2-
-
-
-
1Loss-
OR2G3-
-
-
-
1Loss-
OR2G6-
-
-
-
1Loss-
OR2L13-
-
-
-
1Loss-
OR2L2-
-
-
-
1Loss-
OR2L3-
-
-
-
1Loss-
OR2L5-
-
-
-
1Loss-
OR2L8-
-
-
-
1Loss-
OR2M2-
-
-
-
1Loss-
OR2M3-
-
-
-
1Loss-
OR2M4-
-
-
-
1Loss-
OR2M5-
-
-
-
1Loss-
OR2M7-
-
-
-
1Loss-
OR2T1-
-
-
-
1Loss-
OR2T10-
-
-
-
1Loss-
OR2T11-
-
-
-
1Loss-
OR2T12-
-
-
-
1Loss-
OR2T2-
-
-
-
1Loss-
OR2T27-
-
-
-
1Loss-
OR2T29-
-
-
-
1Loss-
OR2T3-
-
-
-
1Loss-
OR2T33-
-
-
-
1Loss-
OR2T34-
-
-
-
1Loss-
OR2T35-
-
-
-
1Loss-
OR2T4-
-
-
-
1Loss-
OR2T5-
-
-
-
1Loss-
OR2T6-
-
-
-
1Loss-
OR2T8-
-
-
-
1Loss-
OR2W3-
-
-
-
1Loss-
OR2Z1-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11p.R310K
Missense
SNP
0.413
1Loss-
OR4D5-
-
-
-
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4K13p.S53L
Missense
SNP
0.511
2--
OR4P4-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4p.G254R
Missense
SNP
0.598
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AC2-
-
-
-
1Loss-
OR5AK2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
1Loss-
OR5AR1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18-
-
-
-
1Loss-
OR5F1-
-
-
-
1Loss-
OR5H1-
-
-
-
1Loss-
OR5H14-
-
-
-
1Loss-
OR5H15-
-
-
-
1Loss-
OR5H2-
-
-
-
1Loss-
OR5H6-
-
-
-
1Loss-
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5K1-
-
-
-
1Loss-
OR5K2-
-
-
-
1Loss-
OR5K3-
-
-
-
1Loss-
OR5K4-
-
-
-
1Loss-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8-
-
-
-
1Loss-
OR5M9-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6F1-
-
-
-
1Loss-
OR6K2-
-
-
-
1Loss-
OR6K3-
-
-
-
1Loss-
OR6K6-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
1Loss-
OR6N2-
-
-
-
1Loss-
OR6P1-
-
-
-
1Loss-
OR6Q1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2p.D70N
Missense
SNP
0.323
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1-
-
-
-
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORC2-
-
-
-
3Gain-
ORC4-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORMDL1-
-
-
-
3Gain-
OSBP-
-
-
-
1Loss-
OSBPL11-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSBPL6p.Q931R
Missense
SNP
0.132
3Gain-
OSCAR-
-
-
-
1Loss-
OSGEPL1-
-
-
-
3Gain-
OSMR-
-
-
-
5Amp-
OSR1-
-
-
-
1Loss-
OST4-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OTOF-
-
-
-
1Loss-
OTOGp.P674L
Missense
SNP
0.356
1Loss-
OTOP1-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7B-
-
-
-
1Loss-
OTULIN-
-
-
-
5Amp-
OTULINL-
-
-
-
5Amp-
OTX1-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OVOL3-
-
-
-
1Loss-
OXCT1-
-
-
-
5Amp-
OXER1-
-
-
-
1Loss-
OXLD1p.P83S
Missense
SNP
0.548
2--
P2RX3-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
PAAF1-
-
-
-
1Loss-
PABPC4L-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAF1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAFAH1B3-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
5Amp-
PAIP2B-
-
-
-
1Loss-
PAK1-
-
-
-
1Loss-
PAK2p.R450G
Missense
SNP
1.000
2--
PAK4-
-
-
-
1Loss-
PAK5p.E294K
Missense
SNP
0.517
2--
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK2p.P58L
Missense
SNP
0.434
2--
PANK4-
-
-
-
1Loss-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPOLG-
-
-
-
1Loss-
PAPSS1-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR6-
-
-
-
1Loss-
PAQR7-
-
-
-
1Loss-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARG-
-
-
-
1Loss-
PARM1-
-
-
-
1Loss-
PARP1-
-
-
-
1Loss-
PARP12-
-
-
-
3Gain-
PARP14-
-
-
-
1Loss-
PARP15-
-
-
-
1Loss-
PARP9p.P802L
Missense
SNP
1.000
1Loss-
PARVA-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATL1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAX6-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PAX8-
-
-
-
3Gain-
PBLD-
-
-
-
1Loss-
PBX1-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PBXIP1-
-
-
-
1Loss-
PC-
-
-
-
1Loss-
PCARE-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCBP1-
-
-
-
1Loss-
PCDH10-
-
-
-
1Loss-
PCDH11Xp.G1069R
Missense
SNP
1.000
NDND-
PCDH15p.P515L
Missense
SNP
0.263
1Loss-
PCDH17p.E138K
p.G399S
Missense
Missense
SNP
SNP
0.442
0.628
2--
PCDH18-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDHA10p.N811S
Missense
SNP
0.275
2--
PCDHB15p.G63E
Missense
SNP
0.380
2--
PCDHGA8p.S687L
Missense
SNP
0.761
2--
PCDHGC4p.P147L
Missense
SNP
0.254
2--
PCF11-
-
-
-
1Loss-
PCGF1-
-
-
-
1Loss-
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCK1p.G8D
Missense
SNP
0.519
2--
PCLOp.R2966C
p.G1364R
Missense
Missense
SNP
SNP
0.376
0.562
3Gain-
PCNP-
-
-
-
1Loss-
PCNX2-
-
-
-
1Loss-
PCNX3-
-
-
-
1Loss-
PCNX4p.E605K
Missense
SNP
0.512
2--
PCOLCEp.P413S
Missense
SNP
0.606
2--
PCP2-
-
-
-
1Loss-
PCP4L1-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK7-
-
-
-
1Loss-
PCYOX1-
-
-
-
1Loss-
PDAP1-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD2L-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6-
-
-
-
5Amp-
PDCL2-
-
-
-
1Loss-
PDCL3-
-
-
-
3Gain-
PDE11A-
-
-
-
3Gain-
PDE1A-
-
-
-
3Gain-
PDE2A-
-
-
-
1Loss-
PDE3Bp.M617I
Missense
SNP
0.411
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4Cp.D60N
Missense
SNP
0.721
1Loss-
PDE4DIP-
-
-
-
1Loss-
PDE5A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
3Gain-
PDE8Bp.D476N
Missense
SNP
0.555
2--
PDE9Ap.T219P
Missense
SNP
0.444
2--
PDGFC-
-
-
-
1Loss-
PDGFDp.R275K
Missense
SNP
0.326
1Loss-
PDGFRA-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA5-
-
-
-
1Loss-
PDIA6-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDK1-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDS5Ap.T1160S
Missense
SNP
0.295
1Loss-
PDSS1-
-
-
-
1Loss-
PDZD2-
-
-
-
5Amp-
PDZD3-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PDZD8p.A216V
Missense
SNP
0.487
1Loss-
PDZK1-
-
-
-
1Loss-
PEA15-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PEG3-
-
-
-
1Loss-
PELI1-
-
-
-
1Loss-
PELI3-
-
-
-
1Loss-
PEPD-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PEX10-
-
-
-
1Loss-
PEX11B-
-
-
-
1Loss-
PEX11G-
-
-
-
1Loss-
PEX13-
-
-
-
1Loss-
PEX16-
-
-
-
1Loss-
PEX19-
-
-
-
1Loss-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFDN2-
-
-
-
1Loss-
PFKFB2-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN4-
-
-
-
1Loss-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAP1-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGBD2-
-
-
-
1Loss-
PGBD5-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
1Loss-
PGLYRP4-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGM2L1-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PGR-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHF12p.S559F
Missense
SNP
0.452
2--
PHF13-
-
-
-
1Loss-
PHF21A-
-
-
-
1Loss-
PHF24p.D372N
Missense
SNP
0.467
2--
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLDB2-
-
-
-
1Loss-
PHLDB3-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
3Gain-
PHOX2A-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PICALM-
-
-
-
1Loss-
PID1-
-
-
-
3Gain-
PIDD1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIGF-
-
-
-
1Loss-
PIGG-
-
-
-
1Loss-
PIGM-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGRp.S528F
Missense
SNP
0.608
1Loss-
PIGY-
-
-
-
1Loss-
PIH1D1-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3C2Ap.P841S
Missense
SNP
0.207
1Loss-
PIK3C2B-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3R2-
-
-
-
1Loss-
PIK3R4-
-
-
-
1Loss-
PIKFYVEp.G1533E
Missense
SNP
0.777
3Gain-
PIM3p.G191S
Missense
SNP
0.575
2--
PIN1-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP5K1A-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNM1-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJVK-
-
-
-
3Gain-
PKD1L2p.G402S
Missense
SNP
0.421
2--
PKD2-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKHD1L1p.W1061*
Nonsense
SNP
0.462
2--
PKLR-
-
-
-
1LossPKM--PKLR
PKM-
-
-
-
2-PKM--PKLR
PKN1-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PKP4-
-
-
-
3Gain-
PLA1A-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G4C-
-
-
-
1Loss-
PLA2G4Dp.X224_splice
Splice_Site
SNP
0.531
2--
PLA2G5-
-
-
-
1Loss-
PLA2R1-
-
-
-
3Gain-
PLAC8-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLB1-
-
-
-
1Loss-
PLCB1p.S196F
Missense
SNP
0.459
2--
PLCB3-
-
-
-
1Loss-
PLCD1p.F614I
Missense
SNP
0.484
2--
PLCE1-
-
-
-
1Loss-
PLCH2-
-
-
-
1Loss-
PLCL1-
-
-
-
3Gain-
PLCXD2-
-
-
-
1Loss-
PLCXD3-
-
-
-
5Amp-
PLD3-
-
-
-
1Loss-
PLD5-
-
-
-
1Loss-
PLECp.A1161V
Missense
SNP
0.427
2--
PLEK-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA3-
-
-
-
3Gain-
PLEKHA4-
-
-
-
1Loss-
PLEKHA6-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHB1-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHG2p.P756Q
Missense
SNP
0.259
1Loss-
PLEKHG4B-
-
-
-
5Amp-
PLEKHG5-
-
-
-
1Loss-
PLEKHH2-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
1Loss-
PLEKHM3-
-
-
-
3Gain-
PLEKHN1p.R269C
Missense
SNP
0.362
1Loss-
PLEKHO1-
-
-
-
1Loss-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
1Loss-
PLXNA2-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PLXNB2p.P1037L
Missense
SNP
0.381
2--
PLXND1-
-
-
-
1Loss-
PM20D1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMF1-
-
-
-
1Loss-
PMF1-BGLAP-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS1-
-
-
-
3Gain-
PMVK-
-
-
-
1Loss-
PNKP-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNO1-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNPT1-
-
-
-
1Loss-
PNRC2-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
1Loss-
POGK-
-
-
-
1Loss-
POGLUT1-
-
-
-
1Loss-
POGZ-
-
-
-
1Loss-
POLA2-
-
-
-
1Loss-
POLD1-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLEp.P441L
Missense
MNP
0.627
2--
POLE4-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLQ-
-
-
-
1Loss-
POLR1A-
-
-
-
1Loss-
POLR1B-
-
-
-
3Gain-
POLR2B-
-
-
-
1Loss-
POLR2D-
-
-
-
3Gain-
POLR2E-
-
-
-
1Loss-
POLR2Fp.X31_splice
Splice_Site
SNP
0.338
2--
POLR2G-
-
-
-
1Loss-
POLR2I-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3C-
-
-
-
1Loss-
POLR3GL-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L12p.P261Q
Missense
SNP
0.636
2--
POMC-
-
-
-
1Loss-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP4-
-
-
-
1Loss-
POPDC2-
-
-
-
1Loss-
POSTNp.G326E
p.R289K
Missense
Missense
SNP
SNP
0.500
0.370
2--
POT1-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POTEHp.P467L
Missense
MNP
0.100
2--
POU2AF1-
-
-
-
1Loss-
POU2F1-
-
-
-
1Loss-
POU2F2-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F3-
-
-
-
3Gain-
POU4F2-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPEF2-
-
-
-
1Loss-
PPFIA1-
-
-
-
1Loss-
PPFIA3p.S142F
Missense
SNP
0.387
1Loss-
PPFIA4-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPIAL4C-
-
-
-
1Loss-
PPIAL4D-
-
-
-
1Loss-
PPIAL4G-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIG-
-
-
-
3Gain-
PPIL1p.X94_splice
Splice_Site
SNP
0.626
2--
PPIL3-
-
-
-
3Gain-
PPM1B-
-
-
-
1Loss-
PPM1Dp.Q524*
Nonsense
SNP
0.465
2--
PPM1Fp.Q276*
Nonsense
SNP
0.361
2--
PPM1G-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1N-
-
-
-
1Loss-
PPME1-
-
-
-
1Loss-
PPOX-
-
-
-
1Loss-
PPP1CA-
-
-
-
1Loss-
PPP1CB-
-
-
-
1Loss-
PPP1R12B-
-
-
-
1Loss-
PPP1R12C-
-
-
-
1Loss-
PPP1R13Bp.R194C
Missense
SNP
0.450
2--
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R15A-
-
-
-
1Loss-
PPP1R15B-
-
-
-
1Loss-
PPP1R1C-
-
-
-
3Gain-
PPP1R21-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3A-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R9A-
-
-
-
3Gain-
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R5A-
-
-
-
1Loss-
PPP2R5B-
-
-
-
1Loss-
PPP2R5Cp.D206G
Missense
SNP
0.467
2--
PPP3CA-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3R1-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPP4R3B-
-
-
-
1Loss-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6R1-
-
-
-
1Loss-
PPP6R3-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PQLC3-
-
-
-
1Loss-
PRADC1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF26-
-
-
-
1Loss-
PRAMEF27-
-
-
-
1Loss-
PRAMEF4-
-
-
-
1Loss-
PRAMEF5-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF7-
-
-
-
1Loss-
PRAMEF8-
-
-
-
1Loss-
PRAMEF9-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB2p.G208R
Missense
SNP
0.191
2--
PRCC-
-
-
-
1Loss-
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM11-
-
-
-
1Loss-
PRDM15p.P414L
Missense
SNP
0.412
2--
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
5Amp-
PRDX2-
-
-
-
1Loss-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PREB-
-
-
-
1Loss-
PRELID3A-
-
-
-
3Gain-
PRELP-
-
-
-
1Loss-
PREPL-
-
-
-
1Loss-
PRF1-
-
-
-
1Loss-
PRG2p.D38E
Missense
SNP
0.420
1Loss-
PRG3-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
5Amp-
PRKAB2-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKAR2B-
-
-
-
3Gain-
PRKCE-
-
-
-
1Loss-
PRKCG-
-
-
-
1Loss-
PRKCQ-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKCZ-
-
-
-
1Loss-
PRKD2p.S75F
Missense
SNP
0.511
1Loss-
PRKD3-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRA-
-
-
-
3Gain-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
5Amp-
PRMT1-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PROC-
-
-
-
3Gain-
PRODH2-
-
-
-
1Loss-
PROKR1-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROS1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROSER3-
-
-
-
1Loss-
PROX1-
-
-
-
1Loss-
PROX2p.W121*
Nonsense
SNP
0.471
2--
PRPF18-
-
-
-
1Loss-
PRPF19-
-
-
-
1Loss-
PRPF3-
-
-
-
1Loss-
PRPF31-
-
-
-
1Loss-
PRPF40A-
-
-
-
3Gain-
PRR12-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR35p.R291K
Missense
SNP
0.570
2--
PRR36-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRR9-
-
-
-
1Loss-
PRRC2Bp.P1207L
Missense
SNP
0.564
2--
PRRG2-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS23-
-
-
-
1Loss-
PRSS38-
-
-
-
1Loss-
PRSS42p.Q149*
Nonsense
SNP
0.455
2--
PRSS48-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
1Loss-
PRX-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2B-
-
-
-
1Loss-
PSAP-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD2p.G107E
Missense
SNP
0.679
2--
PSD4-
-
-
-
3Gain-
PSEN2-
-
-
-
1Loss-
PSENEN-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5p.G17R
Missense
SNP
0.300
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMA8-
-
-
-
1Loss-
PSMB4-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMC3-
-
-
-
1Loss-
PSMC4-
-
-
-
1Loss-
PSMD1p.P119L
Missense
SNP
0.691
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD14-
-
-
-
3Gain-
PSMD4-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSMG2-
-
-
-
3Gain-
PSPN-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTCD1-
-
-
-
3Gain-
PTCD3-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDR2-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGER4-
-
-
-
5Amp-
PTGIR-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTH1Rp.P532S
Missense
SNP
0.435
2--
PTH2-
-
-
-
1Loss-
PTH2R-
-
-
-
3Gain-
PTMA-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTOV1-
-
-
-
1Loss-
PTPMT1-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN14-
-
-
-
1Loss-
PTPN2-
-
-
-
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN22p.S538L
Missense
SNP
0.662
2--
PTPN4-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN7-
-
-
-
1Loss-
PTPRCAP-
-
-
-
1Loss-
PTPRDp.R1088C
Missense
SNP
0.945
2--
PTPRE-
-
-
-
1Loss-
PTPRH-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRM-
-
-
-
3Gain-
PTPRS-
-
-
-
1Loss-
PTPRZ1-
-
-
-
3Gain-
PTRHD1-
-
-
-
1Loss-
PTS-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PUM2-
-
-
-
1Loss-
PUS10-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PUSL1-
-
-
-
1Loss-
PVR-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDNp.S250T
Missense
SNP
0.646
1Loss-
PYCR2-
-
-
-
1Loss-
PYGBp.V65L
Missense
SNP
0.455
2--
PYGM-
-
-
-
1Loss-
PYGO2-
-
-
-
1Loss-
PYHIN1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QPCT-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH1p.S570F
Missense
SNP
0.598
2--
QSER1-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
QTRT2-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
RAB10-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP5-
-
-
-
1Loss-
RAB12-
-
-
-
3Gain-
RAB13-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB1A-
-
-
-
1Loss-
RAB1B-
-
-
-
1Loss-
RAB25-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB29-
-
-
-
1Loss-
RAB30-
-
-
-
1Loss-
RAB31-
-
-
-
3Gain-
RAB33B-
-
-
-
1Loss-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB3GAP1-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
1Loss-
RAB3IL1-
-
-
-
1Loss-
RAB43-
-
-
-
1Loss-
RAB44p.P498S
Missense
SNP
0.493
2--
RAB4A-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RAB6B-
-
-
-
1Loss-
RAB7A-
-
-
-
1Loss-
RAB8A-
-
-
-
1Loss-
RABAC1-
-
-
-
1Loss-
RABIF-
-
-
-
1Loss-
RABL2A-
-
-
-
3Gain-
RABL3-
-
-
-
1Loss-
RAD1-
-
-
-
5Amp-
RAD23A-
-
-
-
1Loss-
RAD51AP1p.V166F
Missense
SNP
0.735
2--
RAD51AP2-
-
-
-
1Loss-
RAD9A-
-
-
-
1Loss-
RADILp.S1060Y
Missense
SNP
0.404
2--
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI14-
-
-
-
5Amp-
RALB-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RANBP2-
-
-
-
3Gain-
RANBP3-
-
-
-
1Loss-
RANBP3L-
-
-
-
5Amp-
RAP1GAP-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAPGEF2-
-
-
-
1Loss-
RAPGEF4-
-
-
-
3Gain-
RAPH1-
-
-
-
3Gain-
RAPSN-
-
-
-
1Loss-
RARRES3-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASGRP3p.W653*
Nonsense
SNP
0.719
1Loss-
RASGRP4-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RBBP5-
-
-
-
1Loss-
RBBP6p.D204N
Missense
SNP
0.332
2--
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBKS-
-
-
-
1Loss-
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM34-
-
-
-
1Loss-
RBM4-
-
-
-
1Loss-
RBM42-
-
-
-
1Loss-
RBM43-
-
-
-
3Gain-
RBM45-
-
-
-
3Gain-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM48-
-
-
-
3Gain-
RBM4B-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
1Loss-
RBMS1-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBPJp.R37Q
Missense
SNP
0.463
1Loss-
RBSNp.S548F
Missense
SNP
0.468
2--
RCAN3-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCE1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RCOR3-
-
-
-
1Loss-
RD3-
-
-
-
1Loss-
RDH13-
-
-
-
1Loss-
RDH14-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
REELD1-
-
-
-
1Loss-
REEP1-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
REG1A-
-
-
-
1Loss-
REG1B-
-
-
-
1Loss-
REG3A-
-
-
-
1Loss-
REG3G-
-
-
-
1Loss-
REL-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
RELL2p.P284L
Missense
SNP
0.407
2--
RELNp.N402I
Missense
SNP
0.327
3Gain-
RELT-
-
-
-
1Loss-
REN-
-
-
-
1Loss-
RER1-
-
-
-
1Loss-
REST-
-
-
-
1Loss-
RETp.D850N
Missense
SNP
0.679
1Loss-
RETN-
-
-
-
1Loss-
RETNLB-
-
-
-
1Loss-
RETREG1-
-
-
-
5Amp-
RETSAT-
-
-
-
1Loss-
REV1-
-
-
-
3Gain-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFPL4A-
-
-
-
1Loss-
RFPL4AL1-
-
-
-
1Loss-
RFTN2-
-
-
-
3Gain-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX5-
-
-
-
1Loss-
RFX8-
-
-
-
3Gain-
RFXANK-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS4-
-
-
-
1Loss-
RGS5-
-
-
-
1Loss-
RGS7-
-
-
-
1Loss-
RGS9BP-
-
-
-
1Loss-
RHBDD1-
-
-
-
3Gain-
RHBG-
-
-
-
1Loss-
RHCE-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEX-
-
-
-
1Loss-
RHO-
-
-
-
1Loss-
RHOB-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOD-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOQ-
-
-
-
1Loss-
RHOU-
-
-
-
1Loss-
RHPN2-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RICTORp.L532F
Missense
SNP
0.096
5Amp-
RIF1-
-
-
-
3Gain-
RIIAD1-
-
-
-
1Loss-
RIN1p.S310Y
Missense
SNP
0.400
1Loss-
RINL-
-
-
-
1Loss-
RINT1-
-
-
-
3Gain-
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
1Loss-
RIT1-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN2-
-
-
-
1Loss-
RMND5A-
-
-
-
1Loss-
RNASEH1-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RND3-
-
-
-
3Gain-
RNF103-
-
-
-
1Loss-
RNF103-CHMP3-
-
-
-
1Loss-
RNF115-
-
-
-
1Loss-
RNF121-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF138-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF144A-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF149-
-
-
-
3Gain-
RNF150-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF169-
-
-
-
1Loss-
RNF175-
-
-
-
1Loss-
RNF181-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF187-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF223p.S201F
Missense
SNP
0.670
1Loss-
RNF225-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNLSp.G301E
Missense
SNP
0.340
1Loss-
RNMT-
-
-
-
3Gain-
RNPEP-
-
-
-
1Loss-
RNPS1p.P267S
Missense
SNP
0.500
2--
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROCK2-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1-
-
-
-
1Loss-
ROPN1B-
-
-
-
1Loss-
ROPN1L-
-
-
-
5Amp-
RORC-
-
-
-
1Loss-
RP1p.K381T
Missense
SNP
0.510
2--
RP11-766F14.2p.S1747F
Missense
SNP
0.570
NDND-
RPE-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL11-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL24-
-
-
-
1Loss-
RPL26p.K77Nfs*21
Frame_Shift_Del
DEL
0.451
2--
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL31-
-
-
-
3Gain-
RPL34-
-
-
-
1Loss-
RPL37-
-
-
-
5Amp-
RPL9-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
1Loss-
RPRM-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS16-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
1Loss-
RPS27A-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KC1-
-
-
-
1Loss-
RPS7-
-
-
-
1Loss-
RPS9-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAS-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRM2-
-
-
-
1Loss-
RRNAD1-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RRP15-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RSAD2-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSC1A1-
-
-
-
1Loss-
RSF1-
-
-
-
1Loss-
RSPH6A-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RSU1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTKN-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1p.R146K
Missense
SNP
0.395
2--
RTN1p.L612I
p.G155R
Missense
Missense
SNP
SNP
0.429
0.504
2--
RTN2-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4-
-
-
-
1Loss-
RTN4RL2-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUNX3-
-
-
-
1Loss-
RUSC1-
-
-
-
1Loss-
RUVBL1-
-
-
-
1Loss-
RUVBL2-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP3-
-
-
-
5Amp-
RXFP4-
-
-
-
1Loss-
RXRG-
-
-
-
1Loss-
RYK-
-
-
-
1Loss-
RYR1-
-
-
-
1Loss-
RYR2p.Q1949*
p.E2064K
Nonsense
Missense
SNP
SNP
0.302
0.295
1Loss-
RYR3p.S3035F
Missense
SNP
0.396
2--
S100A1-
-
-
-
1Loss-
S100A10-
-
-
-
1Loss-
S100A11-
-
-
-
1Loss-
S100A12-
-
-
-
1Loss-
S100A13-
-
-
-
1Loss-
S100A14-
-
-
-
1Loss-
S100A16-
-
-
-
1Loss-
S100A2-
-
-
-
1Loss-
S100A3-
-
-
-
1Loss-
S100A4-
-
-
-
1Loss-
S100A5-
-
-
-
1Loss-
S100A6-
-
-
-
1Loss-
S100A7-
-
-
-
1Loss-
S100A7A-
-
-
-
1Loss-
S100A7L2-
-
-
-
1Loss-
S100A8-
-
-
-
1Loss-
S100A9-
-
-
-
1Loss-
S100P-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAC3D1-
-
-
-
1Loss-
SAE1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD11-
-
-
-
1Loss-
SAMD4B-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP130-
-
-
-
3Gain-
SAP30-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SARS2-
-
-
-
1Loss-
SART1-
-
-
-
1Loss-
SATB2-
-
-
-
3Gain-
SAXO1p.R123Q
Missense
SNP
1.000
2--
SBF2-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SBSN-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAF1-
-
-
-
1Loss-
SCAMP3-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCCPDH-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCFD2-
-
-
-
1Loss-
SCG2-
-
-
-
3Gain-
SCGB1A1-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2p.R74Q
Missense
SNP
0.628
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
1Loss-
SCLT1-
-
-
-
1Loss-
SCML2p.P295S
Missense
SNP
1.000
NDND-
SCN1A-
-
-
-
3Gain-
SCN1B-
-
-
-
1Loss-
SCN2Ap.Q1838*
p.S1968F
Nonsense
Missense
SNP
SNP
0.615
0.768
3Gain-
SCN2B-
-
-
-
1Loss-
SCN3A-
-
-
-
3Gain-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCN7A-
-
-
-
3Gain-
SCN9A-
-
-
-
3Gain-
SCNM1-
-
-
-
1Loss-
SCNN1D-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRN3-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCTR-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDC1-
-
-
-
1Loss-
SDCCAG8-
-
-
-
1Loss-
SDE2-
-
-
-
1Loss-
SDF4-
-
-
-
1Loss-
SDHA-
-
-
-
5Amp-
SDHAF1-
-
-
-
1Loss-
SDHAF2-
-
-
-
1Loss-
SDHAF3-
-
-
-
3Gain-
SDHB-
-
-
-
1Loss-
SDHC-
-
-
-
1Loss-
SDHD-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC16Ap.D944N
Missense
SNP
0.454
2--
SEC22A-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24Cp.P457L
Missense
SNP
0.674
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SEH1L-
-
-
-
3Gain-
SEL1L3-
-
-
-
1Loss-
SELENBP1-
-
-
-
1Loss-
SELENOH-
-
-
-
1Loss-
SELENOI-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOP-
-
-
-
5Amp-
SELENOV-
-
-
-
1Loss-
SELENOW-
-
-
-
1Loss-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4A-
-
-
-
1Loss-
SEMA4Dp.E637K
p.P586S
Missense
Missense
SNP
SNP
0.452
0.521
2--
SEMA4F-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
5Amp-
SEMA5B-
-
-
-
1Loss-
SEMA6Ap.G971C
Missense
SNP
0.204
2--
SEMA6B-
-
-
-
1Loss-
SEMA6C-
-
-
-
1Loss-
SENP7-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT10-
-
-
-
3Gain-
SEPT11-
-
-
-
1Loss-
SERAC1p.E516K
Missense
SNP
0.491
2--
SERGEF-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE2-
-
-
-
3Gain-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERTAD1-
-
-
-
1Loss-
SERTAD2-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SERTAD4-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SESTD1p.T79I
Missense
SNP
0.173
3Gain-
SETBP1-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETDB1-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B1-
-
-
-
3Gain-
SF3B2-
-
-
-
1Loss-
SF3B4-
-
-
-
1Loss-
SF3B6-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFT2D1p.L116F
Missense
SNP
0.483
2--
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SFXN5-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGIP1p.P579L
Missense
SNP
0.417
2--
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGO2p.P670S
Missense
SNP
0.765
3Gain-
SGPL1-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2B1p.P184L
Missense
SNP
0.368
2--
SH2D1B-
-
-
-
1Loss-
SH2D2A-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH2D6-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP5L-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF3p.P575L
Missense
SNP
0.219
3Gain-
SH3TC1-
-
-
-
1Loss-
SH3YL1-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHANK2p.P997S
Missense
SNP
0.368
1Loss-
SHC1-
-
-
-
1Loss-
SHC2p.P582L
Missense
SNP
0.571
1Loss-
SHC4p.S554Y
Missense
SNP
0.383
2--
SHD-
-
-
-
1Loss-
SHE-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA4-
-
-
-
1Loss-
SHISA7-
-
-
-
1Loss-
SHKBP1-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIDT1-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC10-
-
-
-
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12-
-
-
-
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
1Loss-
SIPA1L3-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKI-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP2-
-
-
-
5Amp-
SLAIN2-
-
-
-
1Loss-
SLAMF1-
-
-
-
1Loss-
SLAMF6-
-
-
-
1Loss-
SLAMF7-
-
-
-
1Loss-
SLAMF8-
-
-
-
1Loss-
SLAMF9-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC12A5p.E806K
Missense
SNP
0.433
2--
SLC12A7-
-
-
-
5Amp-
SLC12A8-
-
-
-
1Loss-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A2p.S643F
Missense
SNP
1.000
1Loss-
SLC15A3-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A14-
-
-
-
3Gain-
SLC16A9-
-
-
-
1Loss-
SLC17A3p.P260L
Missense
SNP
0.550
2--
SLC17A6-
-
-
-
1Loss-
SLC17A7-
-
-
-
1Loss-
SLC17A8p.S89F
Missense
SNP
0.643
2--
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC19A3-
-
-
-
3Gain-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
5Amp-
SLC1A4-
-
-
-
1Loss-
SLC1A5p.P509S
Missense
SNP
0.286
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC20A1-
-
-
-
3Gain-
SLC22A10-
-
-
-
1Loss-
SLC22A11p.X166_splice
Splice_Site
SNP
0.649
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC25A12-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A16-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A44-
-
-
-
1Loss-
SLC25A45-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A9-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC27A3-
-
-
-
1Loss-
SLC27A5-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A1-
-
-
-
1Loss-
SLC30A10-
-
-
-
1Loss-
SLC30A2-
-
-
-
1Loss-
SLC30A3-
-
-
-
1Loss-
SLC30A6-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35A5-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35F2-
-
-
-
1Loss-
SLC35F3-
-
-
-
1Loss-
SLC35F5-
-
-
-
3Gain-
SLC35F6-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G4-
-
-
-
3Gain-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A11-
-
-
-
3Gain-
SLC39A1-
-
-
-
1Loss-
SLC39A10-
-
-
-
3Gain-
SLC39A12p.G616R
Missense
SNP
0.656
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4p.D319N
Missense
SNP
0.513
2--
SLC39A6-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC3A1-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC40A1-
-
-
-
3Gain-
SLC41A1-
-
-
-
1Loss-
SLC41A3-
-
-
-
1Loss-
SLC43A1-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC44A5p.R507Q
Missense
SNP
0.384
2--
SLC45A2-
-
-
-
5Amp-
SLC45A3-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A10p.E120K
Missense
SNP
0.751
3Gain-
SLC4A1AP-
-
-
-
1Loss-
SLC4A4p.P787S
Missense
SNP
0.288
1Loss-
SLC4A5-
-
-
-
1Loss-
SLC50A1-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC5A7-
-
-
-
3Gain-
SLC6A16-
-
-
-
1Loss-
SLC6A18-
-
-
-
5Amp-
SLC6A19-
-
-
-
5Amp-
SLC6A3-
-
-
-
5Amp-
SLC6A5-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A11-
-
-
-
1Loss-
SLC7A9-
-
-
-
1Loss-
SLC8A1-
-
-
-
1Loss-
SLC8A2-
-
-
-
1Loss-
SLC9A2-
-
-
-
3Gain-
SLC9A3-
-
-
-
5Amp-
SLC9A4-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C1p.L247F
Missense
SNP
1.000
1Loss-
SLC9C2p.N471K
Missense
SNP
0.738
2--
SLCO1C1p.G546E
Missense
SNP
0.284
2--
SLCO2A1-
-
-
-
1Loss-
SLCO2B1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SMAD1-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCA5-
-
-
-
3Gain-
SMARCAD1-
-
-
-
1Loss-
SMC3-
-
-
-
1Loss-
SMC6-
-
-
-
1Loss-
SMCHD1-
-
-
-
3Gain-
SMCO4-
-
-
-
1Loss-
SMCP-
-
-
-
1Loss-
SMG5-
-
-
-
1Loss-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM7-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTNL1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD1-
-
-
-
1Loss-
SMYD2-
-
-
-
1Loss-
SMYD3-
-
-
-
1Loss-
SMYD5-
-
-
-
1Loss-
SNAP47-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPIN-
-
-
-
1Loss-
SNCA-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNHG28-
-
-
-
1Loss-
SNRNP27-
-
-
-
1Loss-
SNRNP70-
-
-
-
1Loss-
SNRPA-
-
-
-
1Loss-
SNRPD2-
-
-
-
1Loss-
SNRPE-
-
-
-
1Loss-
SNRPG-
-
-
-
1Loss-
SNTG2-
-
-
-
1Loss-
SNX15-
-
-
-
1Loss-
SNX17-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SNX4-
-
-
-
1Loss-
SOCS5-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOHLH2p.L23F
Missense
SNP
0.536
2--
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOWAHC-
-
-
-
3Gain-
SOX11-
-
-
-
1Loss-
SOX13-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SP100-
-
-
-
3Gain-
SP110-
-
-
-
3Gain-
SP140-
-
-
-
3Gain-
SP140L-
-
-
-
3Gain-
SP3-
-
-
-
3Gain-
SP5-
-
-
-
3Gain-
SP9-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPACA3p.S19F
Missense
SNP
0.465
2--
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPAG16-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARCL1-
-
-
-
1Loss-
SPAST-
-
-
-
1Loss-
SPATA17-
-
-
-
1Loss-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA21-
-
-
-
1Loss-
SPATA3-
-
-
-
3Gain-
SPATA31A1p.W1187*
Nonsense
SNP
0.450
2--
SPATA4-
-
-
-
1Loss-
SPATA45-
-
-
-
1Loss-
SPATA46-
-
-
-
1Loss-
SPATA5-
-
-
-
1Loss-
SPATS2L-
-
-
-
3Gain-
SPC24-
-
-
-
1Loss-
SPC25-
-
-
-
3Gain-
SPCS2-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDYA-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPEF2-
-
-
-
5Amp-
SPEGp.P2893L
Missense
SNP
0.779
2--
SPEN-
-
-
-
1Loss-
SPHK2-
-
-
-
1Loss-
SPHKAPp.G425E
Missense
SNP
0.246
3Gain-
SPI1-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPICE1-
-
-
-
1Loss-
SPINDOC-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINT2-
-
-
-
1Loss-
SPIRE1-
-
-
-
3Gain-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPOPL-
-
-
-
3Gain-
SPP1-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPR-
-
-
-
1Loss-
SPRED2-
-
-
-
1Loss-
SPRED3-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
1Loss-
SPRR1B-
-
-
-
1Loss-
SPRR3-
-
-
-
1Loss-
SPRR4-
-
-
-
1Loss-
SPRTN-
-
-
-
1Loss-
SPRY1-
-
-
-
1Loss-
SPRYD3p.S57N
Missense
SNP
0.730
2--
SPTA1p.D1993N
Missense
SNP
0.709
1Loss-
SPTBN1-
-
-
-
1Loss-
SPTBN2-
-
-
-
1Loss-
SPTBN4-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRBD1-
-
-
-
1Loss-
SRD5A1-
-
-
-
5Amp-
SRD5A2-
-
-
-
1Loss-
SRD5A3-
-
-
-
1Loss-
SRGAP2-
-
-
-
1Loss-
SRGAP2B-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRP9-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRPRB-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM5-
-
-
-
1Loss-
SRRTp.R50S
Missense
SNP
0.540
2--
SRSF10-
-
-
-
1Loss-
SRSF7-
-
-
-
1Loss-
SRSF8-
-
-
-
1Loss-
SS18-
-
-
-
1Loss-
SSB-
-
-
-
3Gain-
SSBP4-
-
-
-
1Loss-
SSC5D-
-
-
-
1Loss-
SSH3-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSR2-
-
-
-
1Loss-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SSU72-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
SSUH2p.A18T
Missense
SNP
0.449
2--
ST14-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST3GAL5-
-
-
-
1Loss-
ST3GAL6-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GAL2-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAM-
-
-
-
1Loss-
STAM2-
-
-
-
3Gain-
STAMBP-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD10-
-
-
-
1Loss-
STARD3p.G205E
Missense
SNP
0.473
2--
STARD6-
-
-
-
1Loss-
STAT1-
-
-
-
3Gain-
STAT4-
-
-
-
3Gain-
STATH-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP3-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17B-
-
-
-
3Gain-
STK32Ap.G197R
Missense
SNP
0.589
2--
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK39-
-
-
-
3Gain-
STMN1-
-
-
-
1Loss-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STON1-
-
-
-
1Loss-
STON1-GTF2A1L-
-
-
-
1Loss-
STON2p.P250H
Missense
SNP
0.566
2--
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STPG4-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRADB-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRN-
-
-
-
1Loss-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STUM-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP5L-
-
-
-
1Loss-
SUB1-
-
-
-
5Amp-
SUCLG1-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1C2p.R142Q
Missense
SNP
0.770
3Gain-
SULT1C3-
-
-
-
3Gain-
SULT1C4-
-
-
-
3Gain-
SULT1E1-
-
-
-
1Loss-
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SULT6B1-
-
-
-
1Loss-
SUMO1-
-
-
-
3Gain-
SUPT5Hp.A832V
Missense
SNP
0.624
1Loss-
SUPT7L-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD4-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SV2A-
-
-
-
1Loss-
SVILp.S1019F
Missense
SNP
0.287
1Loss-
SVIP-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWAP70-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYCE1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCN-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYMPK-
-
-
-
1Loss-
SYNCRIPp.G559E
Missense
SNP
0.397
2--
SYNE4-
-
-
-
1Loss-
SYNGR4-
-
-
-
1Loss-
SYNJ1p.S1568F
Missense
SNP
0.424
2--
SYNPO2-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYT11-
-
-
-
1Loss-
SYT12-
-
-
-
1Loss-
SYT13-
-
-
-
1Loss-
SYT14-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT2-
-
-
-
1Loss-
SYT3-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT5-
-
-
-
1Loss-
SYT7-
-
-
-
1Loss-
SYT8p.E191K
Missense
SNP
0.427
1Loss-
SYT9-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
Tp.E402K
Missense
SNP
0.464
NDND-
TAC1-
-
-
-
3Gain-
TACC2-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACR1-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3p.P353L
p.W71C
Missense
Missense
SNP
SNP
0.183
0.267
1Loss-
TADA1-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF1A-
-
-
-
1Loss-
TAF1B-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF2p.P1071L
Missense
SNP
0.452
2--
TAF3-
-
-
-
1Loss-
TAF4B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAF5L-
-
-
-
1Loss-
TAF6L-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
1Loss-
TAGLN3-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TANC1-
-
-
-
3Gain-
TANK-
-
-
-
3Gain-
TAOK1p.R654*
Nonsense
SNP
0.415
2--
TAOK2p.P899S
Missense
SNP
0.345
2--
TAPT1-
-
-
-
1Loss-
TARBP1-
-
-
-
1Loss-
TARM1-
-
-
-
1Loss-
TARS-
-
-
-
5Amp-
TARS2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TAS2R1-
-
-
-
5Amp-
TAS2R16-
-
-
-
3Gain-
TATDN3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D17-
-
-
-
1Loss-
TBC1D19-
-
-
-
1Loss-
TBC1D23-
-
-
-
1Loss-
TBC1D8p.P265L
Missense
SNP
0.223
3Gain-
TBC1D9-
-
-
-
1Loss-
TBCB-
-
-
-
1Loss-
TBCE-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBCK-
-
-
-
1Loss-
TBR1-
-
-
-
3Gain-
TBRG1-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF23-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7L1-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCHHL1p.D572N
Missense
SNP
0.621
1Loss-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
1Loss-
TDRD12-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TDRKH-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEAD2-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECPR1-
-
-
-
3Gain-
TECR-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TECTBp.G66R
Missense
SNP
0.674
1Loss-
TEDDM1p.D49Y
Missense
SNP
0.362
2--
TEKT1p.D280Y
Missense
SNP
0.622
2--
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT4A-
-
-
-
5Amp-
TERT-
-
-
-
5Amp-
TES-
-
-
-
3Gain-
TESMIN-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TET2-
-
-
-
1Loss-
TET3-
-
-
-
1Loss-
TEX101-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX261-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX40p.M60I;p.E61K
Missense
MNP
0.638
NDND-
TEX44-
-
-
-
3Gain-
TEX45-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TEX51-
-
-
-
3Gain-
TF-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFB2M-
-
-
-
1Loss-
TFCP2L1-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFG-
-
-
-
1Loss-
TFIP11p.W482*
Nonsense
SNP
0.562
2--
TFPI-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFPT-
-
-
-
1Loss-
TGp.E1471*
Nonsense
SNP
0.462
2--
TGFA-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFB2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
3Gain-
TGIF1-
-
-
-
3Gain-
TGOLN2-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THADAp.S849P
Missense
SNP
0.606
1Loss-
THAP12-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP8-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBS3-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEM4-
-
-
-
1Loss-
THEM5-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THNSL2-
-
-
-
1Loss-
THOC1-
-
-
-
3Gain-
THOC2p.V539E
Missense
SNP
0.980
NDND-
THOP1-
-
-
-
1Loss-
THRSP-
-
-
-
1Loss-
THSD1p.F439L
Missense
SNP
0.516
2--
THSD7Ap.D490N
Missense
SNP
0.465
2--
THSD7Bp.V117A
Missense
SNP
0.211
3Gain-
THUMPD2-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIA1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3p.P242S
Missense
SNP
0.440
1Loss-
TIGD4-
-
-
-
1Loss-
TIGIT-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM17A-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMM50-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMMDC1-
-
-
-
1Loss-
TIRAP-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE3p.S742L
Missense
SNP
0.364
2--
TLE6-
-
-
-
1Loss-
TLK1-
-
-
-
3Gain-
TLL1-
-
-
-
1Loss-
TLL2-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR5-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX2-
-
-
-
1Loss-
TM4SF20-
-
-
-
3Gain-
TM6SF2-
-
-
-
1Loss-
TM7SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMA16-
-
-
-
1Loss-
TMC4-
-
-
-
1Loss-
TMCC1-
-
-
-
1Loss-
TMCC2-
-
-
-
1Loss-
TMCO1-
-
-
-
1Loss-
TMCO4-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMEFF2-
-
-
-
3Gain-
TMEM108-
-
-
-
1Loss-
TMEM109-
-
-
-
1Loss-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM131-
-
-
-
3Gain-
TMEM131L-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM132Dp.G253S
Missense
SNP
0.222
2--
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM140-
-
-
-
3Gain-
TMEM143-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM147-
-
-
-
1Loss-
TMEM150A-
-
-
-
1Loss-
TMEM150B-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM163p.V279M
Missense
SNP
0.818
2--
TMEM165-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM17-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM177-
-
-
-
3Gain-
TMEM178A-
-
-
-
1Loss-
TMEM179B-
-
-
-
1Loss-
TMEM18-
-
-
-
1Loss-
TMEM182-
-
-
-
3Gain-
TMEM183A-
-
-
-
1Loss-
TMEM184C-
-
-
-
1Loss-
TMEM185B-
-
-
-
3Gain-
TMEM190-
-
-
-
1Loss-
TMEM192-
-
-
-
1Loss-
TMEM200C-
-
-
-
3Gain-
TMEM205-
-
-
-
1Loss-
TMEM206-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM214-
-
-
-
1Loss-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
3Gain-
TMEM238-
-
-
-
1Loss-
TMEM240-
-
-
-
1Loss-
TMEM241-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM245p.S221L
Missense
SNP
0.500
2--
TMEM247-
-
-
-
1Loss-
TMEM25-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM267-
-
-
-
5Amp-
TMEM273-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM37-
-
-
-
3Gain-
TMEM38A-
-
-
-
1Loss-
TMEM39A-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM45A-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM62p.A250S
Missense
SNP
0.433
2--
TMEM63A-
-
-
-
1Loss-
TMEM72-
-
-
-
1Loss-
TMEM79-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM81-
-
-
-
1Loss-
TMEM82-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM86B-
-
-
-
1Loss-
TMEM87B-
-
-
-
3Gain-
TMEM88B-
-
-
-
1Loss-
TMEM9-
-
-
-
1Loss-
TMEM91-
-
-
-
1Loss-
TMEM94p.P461L
Missense
SNP
0.475
2--
TMEM9B-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD4-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS7-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMSB10-
-
-
-
1Loss-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP6-
-
-
-
3Gain-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNKS1BP1-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNNI1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNT1-
-
-
-
1Loss-
TNNT2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO2p.S355F
p.G305E
Missense
Missense
SNP
SNP
0.311
0.608
1Loss-
TNPO3-
-
-
-
3Gain-
TNXBp.E3171K
p.P2507L
Missense
Missense
SNP
SNP
0.941
0.526
2--
TOGARAM2-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOMM20-
-
-
-
1Loss-
TOMM40-
-
-
-
1Loss-
TOMM40L-
-
-
-
1Loss-
TOMM70-
-
-
-
1Loss-
TOP2Bp.E519K
Missense
SNP
0.426
2--
TOPAZ1p.P109S
Missense
SNP
0.573
2--
TOPBP1-
-
-
-
1Loss-
TP53p.W146*
Nonsense
SNP
0.984
2--
TP53AIP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
1Loss-
TP53I11-
-
-
-
1Loss-
TP53I3-
-
-
-
1Loss-
TP73-
-
-
-
1Loss-
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPM3-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPO-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPPP-
-
-
-
5Amp-
TPRA1-
-
-
-
1Loss-
TPRG1L-
-
-
-
1Loss-
TPRKB-
-
-
-
1Loss-
TPRX1-
-
-
-
1Loss-
TPTE2p.D215N
Missense
SNP
0.445
2--
TRABD2A-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
1Loss-
TRAF5-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAK2-
-
-
-
3Gain-
TRAM1L1-
-
-
-
1Loss-
TRANK1p.V1017M
Missense
SNP
0.517
2--
TRAPPC11-
-
-
-
1Loss-
TRAPPC12-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6A-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAT1-
-
-
-
1Loss-
TRDMT1-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TREML2p.P134L
Missense
SNP
0.530
2--
TRH-
-
-
-
1Loss-
TRHDEp.G952E
Missense
SNP
0.243
2--
TRIB2-
-
-
-
1Loss-
TRIM10p.S417F
Missense
SNP
0.515
2--
TRIM11-
-
-
-
1Loss-
TRIM17-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM39-RPP21p.H371Q
Missense
SNP
0.993
2--
TRIM44-
-
-
-
1Loss-
TRIM46-
-
-
-
1Loss-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM54-
-
-
-
1Loss-
TRIM56p.S392N
Missense
SNP
0.387
2--
TRIM58-
-
-
-
1Loss-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM64B-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIM77-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIM9p.R361H
Missense
SNP
0.448
2--
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
5Amp-
TRIOBPp.P1403L
Missense
SNP
0.570
2--
TRIP10-
-
-
-
1Loss-
TRIP12-
-
-
-
3Gain-
TRIP13-
-
-
-
5Amp-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10A-
-
-
-
1Loss-
TRMT10C-
-
-
-
1Loss-
TRMT112-
-
-
-
1Loss-
TRMT1Lp.G298R
Missense
SNP
0.671
2--
TRMT44-
-
-
-
1Loss-
TRMT61B-
-
-
-
1Loss-
TRPC3p.E88K
Missense
SNP
0.303
1Loss-
TRPC5p.S627F
Missense
SNP
0.893
NDND-
TRPC6-
-
-
-
1Loss-
TRPM4-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRRAPp.S722F
Missense
SNP
0.368
3Gain-
TRUB1-
-
-
-
1Loss-
TSACC-
-
-
-
1Loss-
TSEN34-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHZ1-
-
-
-
1Loss-
TSHZ3-
-
-
-
1Loss-
TSKS-
-
-
-
1Loss-
TSKU-
-
-
-
1Loss-
TSN-
-
-
-
3Gain-
TSNAX-
-
-
-
1Loss-
TSNAX-DISC1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPYL6-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTD1-
-
-
-
1Loss-
TSTD2p.P133L
Missense
SNP
0.492
2--
TTC12-
-
-
-
1Loss-
TTC13-
-
-
-
1Loss-
TTC17-
-
-
-
1Loss-
TTC21B-
-
-
-
3Gain-
TTC23L-
-
-
-
5Amp-
TTC24p.K68N
Missense
SNP
0.566
1Loss-
TTC26-
-
-
-
3Gain-
TTC27-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC30A-
-
-
-
3Gain-
TTC30B-
-
-
-
3Gain-
TTC31-
-
-
-
1Loss-
TTC32-
-
-
-
1Loss-
TTC33-
-
-
-
5Amp-
TTC34-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTC9B-
-
-
-
1Loss-
TTC9C-
-
-
-
1Loss-
TTL-
-
-
-
3Gain-
TTLL10-
-
-
-
1Loss-
TTNp.W15880*
p.V12193M
p.E4564K
Nonsense
Missense
Missense
SNP
SNP
SNP
0.163
0.776
0.188
3Gain-
TTR-
-
-
-
1Loss-
TTYH1-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBB6-
-
-
-
3Gain-
TUBB8-
-
-
-
1Loss-
TUBB8P12-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUFT1-
-
-
-
1Loss-
TULP2-
-
-
-
1Loss-
TUT1p.E168K
Missense
SNP
0.286
1Loss-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
3Gain-
TXK-
-
-
-
1Loss-
TXNDC2-
-
-
-
3Gain-
TXNDC9-
-
-
-
3Gain-
TXNIP-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYMS-
-
-
-
3Gain-
TYR-
-
-
-
1Loss-
TYROBP-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW5-
-
-
-
3Gain-
U2AF1L4-
-
-
-
1Loss-
U2AF2-
-
-
-
1Loss-
UAP1-
-
-
-
1Loss-
UBA2-
-
-
-
1Loss-
UBA5-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBA6-
-
-
-
1Loss-
UBAP2L-
-
-
-
1Loss-
UBASH3B-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2E3-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2J2-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2L6-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2Q1-
-
-
-
1Loss-
UBE2QL1-
-
-
-
5Amp-
UBE2S-
-
-
-
1Loss-
UBE2T-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLN4p.P365L
Missense
SNP
0.217
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR3-
-
-
-
3Gain-
UBR4-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UBXN4-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCK2-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFC1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT1-
-
-
-
3Gain-
UGP2-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15p.P395L
Missense
SNP
0.206
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4p.P267S
Missense
SNP
0.553
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
5Amp-
UGT3A2-
-
-
-
5Amp-
UGT8-
-
-
-
1Loss-
UHMK1-
-
-
-
1Loss-
UHRF1-
-
-
-
1Loss-
UHRF1BP1p.G32K
Missense
MNP
0.364
2--
UMPS-
-
-
-
1Loss-
UNC13Ap.R1137H
p.D425N
Missense
Missense
SNP
SNP
0.239
0.676
1Loss-
UNC50-
-
-
-
3Gain-
UNC5B-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC5Dp.P615L
Missense
SNP
0.401
2--
UNC80-
-
-
-
3Gain-
UNC93B1-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPK1A-
-
-
-
1Loss-
UPK1B-
-
-
-
1Loss-
UPK2-
-
-
-
1Loss-
UPP2-
-
-
-
3Gain-
UQCC3-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
URB2-
-
-
-
1Loss-
URI1-
-
-
-
1Loss-
UROC1-
-
-
-
1Loss-
UROSp.P44S
Missense
SNP
0.303
1Loss-
USE1-
-
-
-
1Loss-
USF1-
-
-
-
1Loss-
USF2-
-
-
-
1Loss-
USF3-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USH2A-
-
-
-
1Loss-
USHBP1-
-
-
-
1Loss-
USO1-
-
-
-
1Loss-
USP14-
-
-
-
3Gain-
USP17L13-
-
-
-
1Loss-
USP17L17-
-
-
-
1Loss-
USP17L18-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP34-
-
-
-
1Loss-
USP35-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP39-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP54p.W1587*
Nonsense
SNP
0.336
1Loss-
USP6NLp.P633S
Missense
SNP
0.296
1Loss-
USTp.P26S
Missense
SNP
0.379
2--
UTF1-
-
-
-
1Loss-
UTP25-
-
-
-
1Loss-
UTP3-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
UXS1-
-
-
-
3Gain-
VAMP5-
-
-
-
1Loss-
VAMP8-
-
-
-
1Loss-
VANGL2-
-
-
-
1Loss-
VAPA-
-
-
-
3Gain-
VASH2-
-
-
-
1Loss-
VASP-
-
-
-
1Loss-
VAT1Lp.M163I
Missense
SNP
0.286
2--
VAV1-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VAX2-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VHLL-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIT-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VPS11p.G621E
Missense
SNP
0.225
1Loss-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS45-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS51-
-
-
-
1Loss-
VPS54-
-
-
-
1Loss-
VPS72-
-
-
-
1Loss-
VRK2-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
1Loss-
VSIR-
-
-
-
1Loss-
VSNL1-
-
-
-
1Loss-
VSTM1-
-
-
-
1Loss-
VSTM2B-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VSX2p.G72R
Missense
SNP
0.338
2--
VTI1A-
-
-
-
1Loss-
VWA1-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA3Bp.A1003T
Missense
SNP
0.819
3Gain-
VWA5Ap.T544I
Missense
SNP
0.355
1Loss-
VWA5B1-
-
-
-
1Loss-
VWC2L-
-
-
-
3Gain-
VWCE-
-
-
-
1Loss-
VWDEp.G1546R
Missense
SNP
0.355
2--
WAC-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP1-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WDCP-
-
-
-
1Loss-
WDFY1-
-
-
-
3Gain-
WDFY3-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDPCP-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
3Gain-
WDR17-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR26-
-
-
-
1Loss-
WDR33-
-
-
-
3Gain-
WDR35-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR43-
-
-
-
1Loss-
WDR54-
-
-
-
1Loss-
WDR5B-
-
-
-
1Loss-
WDR62-
-
-
-
1Loss-
WDR64-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
5Amp-
WDR74-
-
-
-
1Loss-
WDR75-
-
-
-
3Gain-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WDR92-
-
-
-
1Loss-
WDSUB1-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WIPF1-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT3A-
-
-
-
1Loss-
WNT4-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WNT9A-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XDH-
-
-
-
1Loss-
XIRP2-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPO1-
-
-
-
1Loss-
XRCC1-
-
-
-
1Loss-
XRRA1-
-
-
-
1Loss-
YAP1-
-
-
-
1Loss-
YES1-
-
-
-
3Gain-
YIF1A-
-
-
-
1Loss-
YIF1B-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YIPF4-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YME1L1-
-
-
-
1Loss-
YOD1-
-
-
-
1Loss-
YPEL4-
-
-
-
1Loss-
YPEL5-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YWHAQ-
-
-
-
1Loss-
YY1AP1-
-
-
-
1Loss-
ZACNp.E336K
Missense
SNP
0.439
2--
ZADH2-
-
-
-
1Loss-
ZAP70-
-
-
-
3Gain-
ZAR1-
-
-
-
1Loss-
ZBED2-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBED6-
-
-
-
1Loss-
ZBTB11-
-
-
-
1Loss-
ZBTB14-
-
-
-
3Gain-
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB18-
-
-
-
1Loss-
ZBTB20-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB32-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB9p.G316E
Missense
SNP
0.404
2--
ZC3H11A-
-
-
-
1Loss-
ZC3H12C-
-
-
-
1Loss-
ZC3H15-
-
-
-
3Gain-
ZC3H4-
-
-
-
1Loss-
ZC3H6-
-
-
-
3Gain-
ZC3H8-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZDBF2-
-
-
-
3Gain-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
5Amp-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC23-
-
-
-
1Loss-
ZDHHC24-
-
-
-
1Loss-
ZDHHC5-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZEB2-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFHX4p.P3157L
Missense
SNP
0.448
2--
ZFP14-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP30p.H488Y
Missense
SNP
0.638
1Loss-
ZFP36-
-
-
-
1Loss-
ZFP36L2-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP82-
-
-
-
1Loss-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFR-
-
-
-
5Amp-
ZFR2-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZGRF1p.G1955D
Missense
SNP
0.663
1Loss-
ZIC5p.D649Y
Missense
SNP
0.369
2--
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7p.G23R
Missense
SNP
0.397
2--
ZMIZ1p.H509N
Missense
SNP
0.609
1Loss-
ZMYND11-
-
-
-
1Loss-
ZNF100p.G463S
p.S232F
Missense
Missense
SNP
SNP
0.621
0.362
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF112-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF124-
-
-
-
1Loss-
ZNF131-
-
-
-
5Amp-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF146-
-
-
-
1Loss-
ZNF148-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF181-
-
-
-
1Loss-
ZNF189p.A408S
Missense
SNP
0.420
2--
ZNF195-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF22-
-
-
-
1Loss-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229p.E430K
Missense
SNP
0.266
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF260-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF28-
-
-
-
1Loss-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF296-
-
-
-
1Loss-
ZNF30-
-
-
-
1Loss-
ZNF302-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF320p.R320C
Missense
SNP
0.615
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF330-
-
-
-
1Loss-
ZNF331-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF345p.E94D
Missense
SNP
0.689
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF382-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF385B-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF404-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF428-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF436-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF444-
-
-
-
1Loss-
ZNF445p.R1002Q
Missense
SNP
0.554
2--
ZNF446-
-
-
-
1Loss-
ZNF45p.D137N
Missense
SNP
0.325
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
1Loss-
ZNF468-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF473p.S174A
Missense
SNP
0.728
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF485-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491p.M122I
Missense
SNP
0.657
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
1Loss-
ZNF497p.P301L
Missense
SNP
0.636
1Loss-
ZNF503-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF507-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512-
-
-
-
1Loss-
ZNF513-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF518Ap.P638S
Missense
SNP
0.664
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF519-
-
-
-
3Gain-
ZNF521p.P1259S
Missense
SNP
0.852
1Loss-
ZNF524-
-
-
-
1Loss-
ZNF525-
-
-
-
1Loss-
ZNF526-
-
-
-
1Loss-
ZNF527-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF529-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF536p.E534K
Missense
SNP
0.292
1Loss-
ZNF540-
-
-
-
1Loss-
ZNF541-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF546-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF565-
-
-
-
1Loss-
ZNF566-
-
-
-
1Loss-
ZNF567-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569p.H320Y
Missense
SNP
0.318
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF573-
-
-
-
1Loss-
ZNF574-
-
-
-
1Loss-
ZNF575-
-
-
-
1Loss-
ZNF576-
-
-
-
1Loss-
ZNF577-
-
-
-
1Loss-
ZNF578p.Q21L
Missense
SNP
0.321
1Loss-
ZNF579-
-
-
-
1Loss-
ZNF580-
-
-
-
1Loss-
ZNF581-
-
-
-
1Loss-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF599-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF622-
-
-
-
5Amp-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF628-
-
-
-
1Loss-
ZNF638-
-
-
-
1Loss-
ZNF649-
-
-
-
1Loss-
ZNF653-
-
-
-
1Loss-
ZNF655-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF667-
-
-
-
1Loss-
ZNF669-
-
-
-
1Loss-
ZNF670-
-
-
-
1Loss-
ZNF670-ZNF695-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF687-
-
-
-
1Loss-
ZNF69-
-
-
-
1Loss-
ZNF692-
-
-
-
1Loss-
ZNF695-
-
-
-
1Loss-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF701-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF71-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729p.A804V
Missense
SNP
0.392
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF749-
-
-
-
1Loss-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF780A-
-
-
-
1Loss-
ZNF780B-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF784-
-
-
-
1Loss-
ZNF787-
-
-
-
1Loss-
ZNF789-
-
-
-
3Gain-
ZNF790-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF80-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF804A-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF827-
-
-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF841-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF845p.P942L
Missense
SNP
0.725
1Loss-
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF850-
-
-
-
1Loss-
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNFX1p.L1795F
Missense
SNP
0.660
2--
ZNHIT2-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZP1-
-
-
-
1Loss-
ZP4p.P345S
Missense
SNP
0.664
1Loss-
ZPLD1-
-
-
-
1Loss-
ZPR1-
-
-
-
1Loss-
ZRANB1-
-
-
-
1Loss-
ZRANB3-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN20p.P342S
Missense
SNP
0.402
2--
ZSCAN22-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5B-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM2-
-
-
-
3Gain-
ZSWIM4-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-
ZZEF1p.L628F
Missense
SNP
0.963
2--