PDMR-299254~011-R~QU7JF6-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2-
-
-
-
4Gain-
AADAT-
-
-
-
1Loss-
AAK1-
-
-
-
1Loss-
AAMDC-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
AASDH-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13p.G3052E
Missense
SNP
0.316
1Loss-
ABCA4-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCB11-
-
-
-
1Loss-
ABCB5-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCB8-
-
-
-
3Gain-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC6p.L63F
Missense
SNP
0.489
2--
ABCC8-
-
-
-
3Gain-
ABCD3-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF2-
-
-
-
3Gain-
ABCG1p.P87F
Missense
DNP
0.468
2--
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD14A-
-
-
-
3Gain-
ABHD14A-ACY1-
-
-
-
3Gain-
ABHD14B-
-
-
-
3Gain-
ABHD18-
-
-
-
1Loss-
ABHD6-
-
-
-
3Gain-
ABI2-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABLIM3p.S469F
Missense
SNP
0.996
2--
ABRACL-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
AC001226.2-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
1Loss-
AC004593.3-
-
-
-
1Loss-
AC004691.2-
-
-
-
1Loss-
AC005041.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006254.1-
-
-
-
3Gain-
AC006518.7-
-
-
-
1Loss-
AC006978.2-
-
-
-
1Loss-
AC007040.2-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009336.2-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC017083.3-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
3Gain-
AC018554.3-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
3Gain-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068547.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC079447.1-
-
-
-
1Loss-
AC090004.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092587.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC092835.1-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC093827.5-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC096887.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
3Gain-
AC097636.1-
-
-
-
3Gain-
AC097637.1-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
3Gain-
AC098850.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
3Gain-
AC104452.1-
-
-
-
3Gain-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107959.5-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
3Gain-
AC110275.1-
-
-
-
1Loss-
AC112229.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACAA1-
-
-
-
3Gain-
ACAA2-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACADL-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAT1-
-
-
-
0Del-
ACAT2-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACKR3-
-
-
-
1Loss-
ACMSD-
-
-
-
1Loss-
ACOD1-
-
-
-
3Gain-
ACOX2-
-
-
-
3Gain-
ACOX3-
-
-
-
1Loss-
ACOXL-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSL6p.G641E
Missense
SNP
1.000
2--
ACSM2Ap.W349*
Nonsense
SNP
0.463
2--
ACSS3p.P532S
Missense
SNP
0.641
2--
ACTA1-
-
-
-
3Gain-
ACTG2p.S369F
Missense
SNP
0.439
1Loss-
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
1Loss-
ACTR1B-
-
-
-
1Loss-
ACTR2-
-
-
-
1Loss-
ACTR3-
-
-
-
1Loss-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR8-
-
-
-
3Gain-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
3Gain-
ACY1-
-
-
-
3Gain-
ACY3-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14p.P89S
Missense
SNP
0.423
2--
ADAMTS15-
-
-
-
1Loss-
ADAMTS18p.G467E
Missense
SNP
1.000
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB2p.Q343*
Nonsense
SNP
0.495
2--
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCY1p.S706F
Missense
SNP
0.496
2--
ADCY10-
-
-
-
3Gain-
ADCY4p.C873S
Missense
SNP
0.400
2--
ADCY7-
-
-
-
1Loss-
ADCY8p.L196F
Missense
SNP
0.480
2--
ADCYAP1R1-
-
-
-
1Loss-
ADD1-
-
-
-
1Loss-
ADD2-
-
-
-
1Loss-
ADGB-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB2p.A1386S
Missense
SNP
0.441
2--
ADGRE3p.G229E
Missense
SNP
0.555
2--
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG4p.G2602E
Missense
SNP
1.000
NDND-
ADGRG5-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIPOR1-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA2B-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF3-
-
-
-
1Loss-
AFG1L-
-
-
-
0Del-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AFTPH-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGFG1-
-
-
-
1Loss-
AGL-
-
-
-
1Loss-
AGMO-
-
-
-
1Loss-
AGO2p.P731S
Missense
SNP
0.482
2--
AGPAT4p.G61D
Missense
SNP
1.000
1Loss-
AGPAT5-
-
-
-
1Loss-
AGPS-
-
-
-
1Loss-
AGR2-
-
-
-
1Loss-
AGR3-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AGXT2-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHCYL1-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHI1-
-
-
-
1Loss-
AHNAK-
-
-
-
1Loss-
AHR-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIG1-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AK2-
-
-
-
4Gain-
AK3-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
3Gain-
AKAP12-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKNAD1-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1E2p.D136N
Missense
SNP
0.520
2--
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL033529.1-
-
-
-
4Gain-
AL049557.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
0Del-
AL117339.5-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL132671.2-
-
-
-
0Del-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL159163.1-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
0Del-
AL365214.3-
-
-
-
0Del-
AL445238.1-
-
-
-
4Gain-
AL445989.1-
-
-
-
4Gain-
AL449266.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL603832.3-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
1Loss-
ALAS1-
-
-
-
3Gain-
ALB-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG14-
-
-
-
1Loss-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
0Del-
ALKAL1-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALKBH5-
-
-
-
1Loss-
ALMS1-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3p.G902E
Missense
SNP
0.465
2--
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
3Gain-
ALS2CR12-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
AMACR-
-
-
-
3Gain-
AMBNp.E319K
Missense
SNP
1.000
1Loss-
AMD1-
-
-
-
1Loss-
AMER3-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO3-
-
-
-
3Gain-
AMMECR1L-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPH-
-
-
-
1Loss-
AMT-
-
-
-
3Gain-
AMTN-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2Bp.R210K
Missense
SNP
1.000
1Loss-
AMZ1-
-
-
-
3Gain-
ANAPC1-
-
-
-
1Loss-
ANAPC10-
-
-
-
1Loss-
ANAPC15-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL1-
-
-
-
3Gain-
ANGPTL5-
-
-
-
1Loss-
ANK1p.D124N
Missense
SNP
0.641
1Loss-
ANK2-
-
-
-
1Loss-
ANKAR-
-
-
-
1Loss-
ANKEF1p.D481G
Missense
SNP
0.459
2--
ANKFN1p.L167I
Missense
SNP
0.460
2--
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKK1-
-
-
-
0Del-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD13D-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD23-
-
-
-
1Loss-
ANKRD28-
-
-
-
3Gain-
ANKRD30BL-
-
-
-
1Loss-
ANKRD31p.Q1249*
p.N1248I
Nonsense
Missense
SNP
SNP
0.422
0.442
2--
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD36-
-
-
-
1Loss-
ANKRD36B-
-
-
-
1Loss-
ANKRD36C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD39-
-
-
-
1Loss-
ANKRD42-
-
-
-
1Loss-
ANKRD44-
-
-
-
1Loss-
ANKRD45-
-
-
-
3Gain-
ANKRD49-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD53-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS6p.G543E
Missense
SNP
0.517
2--
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
1Loss-
ANO1-
-
-
-
1Loss-
ANO3-
-
-
-
3Gain-
ANO4p.R916Q
Missense
SNP
0.569
2--
ANO7-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANTXR1-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA4-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
1Loss-
AOC1-
-
-
-
3Gain-
AOX1-
-
-
-
1Loss-
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-
-
-
-
0Del-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
0Del-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
0Del-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP1S3-
-
-
-
1Loss-
AP3D1p.S991F
Missense
SNP
0.476
2--
AP3M2-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP5B1-
-
-
-
1Loss-
APBB1p.P246L
Missense
SNP
0.526
2--
APCp.K1007*
Nonsense
SNP
1.000
2--
APCS-
-
-
-
3Gain-
APEH-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APLF-
-
-
-
1Loss-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOC3-
-
-
-
1Loss-
APPL1-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
AQP1-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF4-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP1p.S98F
Missense
SNP
0.424
2--
ARFGEF3-
-
-
-
1Loss-
ARFIP1-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP18-
-
-
-
0Del-
ARHGAP20-
-
-
-
0Del-
ARHGAP22p.S447F
Missense
DNP
0.304
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP25-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP30p.E1058K
Missense
SNP
0.669
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF3-
-
-
-
3Gain-
ARHGEF38-
-
-
-
1Loss-
ARHGEF4-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID1Ap.Q1458*
Nonsense
SNP
0.504
2--
ARID1B-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARID5Ap.P544S
Missense
DNP
0.375
1Loss-
ARIH2-
-
-
-
3Gain-
ARIH2OS-
-
-
-
3Gain-
ARL13B-
-
-
-
3Gain-
ARL14EP-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL4A-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL5A-
-
-
-
1Loss-
ARL6IP5-
-
-
-
3Gain-
ARL6IP6-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARL8B-
-
-
-
3Gain-
ARL9-
-
-
-
1Loss-
ARMC10-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMC9-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
3Gain-
ARRB1-
-
-
-
1Loss-
ARSFp.E252K
Missense
SNP
1.000
NDND-
ARSJ-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ASAH1-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB10-
-
-
-
3Gain-
ASB14-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB17-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB3-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASCC3-
-
-
-
0Del-
ASCL2p.G19D
Missense
SNP
0.425
2--
ASF1A-
-
-
-
0Del-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASL-
-
-
-
3Gain-
ASNSD1-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASPRV1-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASTL-
-
-
-
1Loss-
ASTN1p.G524R
Missense
SNP
0.300
3Gain-
ASUNp.E282K
Missense
DNP
0.532
NDND-
ASZ1-
-
-
-
3Gain-
ATAT1p.R28*
Nonsense
DNP
0.527
2--
ATF2-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6Bp.L698P
Missense
SNP
0.426
2--
ATG12-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG4B-
-
-
-
1Loss-
ATG5-
-
-
-
0Del-
ATG7-
-
-
-
3Gain-
ATG9A-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATIC-
-
-
-
1Loss-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
0Del-
ATMIN-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATOH8p.L233F
Missense
SNP
0.687
2--
ATP1A1-
-
-
-
1Loss-
ATP1A2p.S413F
Missense
DNP
0.571
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3p.Q166*
Nonsense
SNP
0.402
2--
ATP2B2-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP5MC3-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
3Gain-
ATRNL1p.R766K
Missense
SNP
0.571
2--
ATXN1p.S262F
Missense
SNP
0.518
2--
ATXN1L-
-
-
-
1Loss-
ATXN7-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
3Gain-
AUP1p.G128S
Missense
DNP
0.279
1Loss-
AURKB-
-
-
-
1Loss-
AUTS2p.P1107S
Missense
SNP
0.391
2--
AVL9-
-
-
-
1Loss-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZI2-
-
-
-
3Gain-
AZIN1p.P272L
Missense
SNP
0.451
2--
AZIN2-
-
-
-
4Gain-
B2M-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT1-
-
-
-
1Loss-
B3GALT2-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT2-
-
-
-
1Loss-
B3GNT6-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GAT1-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1-
-
-
-
3Gain-
BARD1-
-
-
-
1Loss-
BARHL2-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BATF2-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAZ2B-
-
-
-
1Loss-
BBOX1-
-
-
-
3Gain-
BBS1-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS5-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAR3p.F224L
Missense
SNP
0.991
1Loss-
BCAS2-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL11A-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L11-
-
-
-
1Loss-
BCL2L15-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BCO2p.P153L
Missense
SNP
1.000
0Del-
BCS1L-
-
-
-
1Loss-
BDH2-
-
-
-
1Loss-
BDNF-
-
-
-
3Gain-
BEAN1-
-
-
-
1Loss-
BEND3-
-
-
-
0Del-
BEST1-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHE40p.P320S
p.P374L
Missense
Missense
SNP
SNP
0.394
0.598
3Gain-
BICDL2p.R487C
Missense
SNP
0.542
2--
BIN1-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP10-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5p.S256N
Missense
SNP
0.329
2--
BMPERp.E472K
Missense
SNP
0.376
1Loss-
BMPR1B-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLA3-
-
-
-
1Loss-
BOLL-
-
-
-
1Loss-
BORA-
-
-
-
3Gain-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIFB6p.G84R
Missense
SNP
0.500
2--
BPNT1-
-
-
-
3Gain-
BRAFp.G466E
Missense
SNP
0.575
2--
BRAT1-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRD9p.P157S
Missense
SNP
0.361
2--
BRDT-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRINP2p.E659K
Missense
SNP
0.309
3Gain-
BRINP3p.K541R
Missense
SNP
0.331
4Gain-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
3Gain-
BRMS1-
-
-
-
1Loss-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
3Gain-
BSCL2-
-
-
-
1Loss-
BSN-
-
-
-
3Gain-
BST1-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD18-
-
-
-
1Loss-
BTBD19p.P179L
Missense
SNP
0.556
2--
BTBD8-
-
-
-
1Loss-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
BTG4-
-
-
-
0Del-
BTNL3p.R281K
Missense
SNP
1.000
2--
BTNL8p.P373S
Missense
SNP
1.000
2--
BUB1-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BVES-
-
-
-
0Del-
BZW1-
-
-
-
1Loss-
BZW2-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C11orf1-
-
-
-
0Del-
C11orf24-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
0Del-
C11orf53-
-
-
-
0Del-
C11orf54-
-
-
-
1Loss-
C11orf58-
-
-
-
3Gain-
C11orf65-
-
-
-
0Del-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
0Del-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
0Del-
C11orf88-
-
-
-
0Del-
C11orf95-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf60p.G219R
Missense
SNP
0.517
2--
C15orf48-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf82p.W106*
Nonsense
SNP
0.491
NDND-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C1D-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf52-
-
-
-
1Loss-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QL2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF5-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C22orf15p.D101N
Missense
SNP
0.565
2--
C22orf46p.E86K
Missense
SNP
0.648
2--
C2CD2L-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf15-
-
-
-
1Loss-
C2orf16p.E1273K
Missense
SNP
0.386
2--
C2orf40-
-
-
-
1Loss-
C2orf42-
-
-
-
1Loss-
C2orf49-
-
-
-
1Loss-
C2orf66-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf71p.R586K
Missense
SNP
0.336
NDND-
C2orf72-
-
-
-
1Loss-
C2orf73-
-
-
-
1Loss-
C2orf74-
-
-
-
1Loss-
C2orf76-
-
-
-
1Loss-
C2orf78-
-
-
-
1Loss-
C2orf80p.H127Y
Missense
SNP
0.754
1Loss-
C2orf81-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C2orf88-
-
-
-
1Loss-
C3AR1p.S78L
Missense
SNP
0.540
2--
C3orf14-
-
-
-
3Gain-
C3orf18-
-
-
-
3Gain-
C3orf20-
-
-
-
3Gain-
C3orf38-
-
-
-
3Gain-
C3orf49-
-
-
-
3Gain-
C3orf62-
-
-
-
3Gain-
C3orf67-
-
-
-
3Gain-
C3orf84-
-
-
-
3Gain-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf30-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf42p.I651V
Missense
SNP
0.629
NDND-
C5orf51-
-
-
-
3Gain-
C6-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf136-
-
-
-
3Gain-
C6orf203-
-
-
-
0Del-
C6orf58-
-
-
-
0Del-
C7-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
1Loss-
C7orf33-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
1Loss-
C7orf77-
-
-
-
3Gain-
C8orf22p.S84L
Missense
SNP
0.653
NDND-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
C9-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf72p.L72F
Missense
SNP
0.490
2--
C9orf92-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CABP1p.E346K
Missense
SNP
0.388
2--
CABP2p.E79K
Missense
SNP
1.000
1Loss-
CABP4-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CACNA1Cp.R462Q
Missense
SNP
0.484
2--
CACNA1D-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
3Gain-
CACNA2D3-
-
-
-
3Gain-
CACNB4-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
0Del-
CADM2-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALB2-
-
-
-
1Loss-
CALCA-
-
-
-
3Gain-
CALCB-
-
-
-
3Gain-
CALCRL-
-
-
-
1Loss-
CALD1-
-
-
-
3Gain-
CALHM4-
-
-
-
0Del-
CALHM5-
-
-
-
0Del-
CALHM6-
-
-
-
0Del-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
0Del-
CAMK1-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMKV-
-
-
-
3Gain-
CAMP-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CAND2-
-
-
-
3Gain-
CAPN1-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPN7-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZA1-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
1Loss-
CASRp.S271F
Missense
SNP
0.490
2--
CASTOR2-
-
-
-
3Gain-
CATIP-
-
-
-
1Loss-
CATSPER1-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERZ-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
3Gain-
CAVIN2-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD2-
-
-
-
1Loss-
CBX3-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105p.R211K
Missense
SNP
0.511
2--
CCDC110-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC116p.E194*
Nonsense
SNP
0.390
2--
CCDC12-
-
-
-
3Gain-
CCDC122-
-
-
-
3Gain-
CCDC126-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC138-
-
-
-
1Loss-
CCDC140-
-
-
-
1Loss-
CCDC141-
-
-
-
1Loss-
CCDC142-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC148-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC15p.S196L
Missense
SNP
1.000
1Loss-
CCDC150-
-
-
-
1Loss-
CCDC152-
-
-
-
3Gain-
CCDC153-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC173-
-
-
-
1Loss-
CCDC174-
-
-
-
3Gain-
CCDC179-
-
-
-
3Gain-
CCDC18-
-
-
-
1Loss-
CCDC181p.D214N
p.L92F
Missense
Missense
SNP
SNP
0.643
0.317
3Gain-
CCDC182p.H74Y
Missense
SNP
0.464
2--
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC34-
-
-
-
3Gain-
CCDC36-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC51-
-
-
-
3Gain-
CCDC66-
-
-
-
3Gain-
CCDC68-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC71-
-
-
-
3Gain-
CCDC71Lp.P168S
Missense
DNP
0.563
3Gain-
CCDC74A-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85A-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88A-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC93-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCNA1p.N49S
Missense
SNP
1.000
2--
CCNA2-
-
-
-
1Loss-
CCNC-
-
-
-
0Del-
CCND1-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNT2-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
3Gain-
CCR2-
-
-
-
3Gain-
CCR3-
-
-
-
3Gain-
CCR4-
-
-
-
3Gain-
CCR5-
-
-
-
3Gain-
CCR6-
-
-
-
1Loss-
CCR9-
-
-
-
3Gain-
CCRL2-
-
-
-
3Gain-
CCS-
-
-
-
1Loss-
CCSAP-
-
-
-
3Gain-
CCSER1-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT4-
-
-
-
1Loss-
CCT6A-
-
-
-
1Loss-
CCT7-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD163p.E911K
Missense
SNP
0.570
2--
CD164-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1Bp.T183I
Missense
SNP
0.654
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
1Loss-
CD207-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
0Del-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD300LBp.E63K
Missense
SNP
0.396
2--
CD302-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3EAPp.P288S
Missense
SNP
0.468
2--
CD3G-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD55-
-
-
-
3Gain-
CD58-
-
-
-
1Loss-
CD5L-
-
-
-
3Gain-
CD6-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD86p.W248*
Nonsense
DNP
0.472
2--
CD8B2-
-
-
-
1Loss-
CD93p.R312C
p.A244T
Missense
Missense
SNP
SNP
0.528
0.511
2--
CDAN1-
-
-
-
1Loss-
CDC14A-
-
-
-
1Loss-
CDC14C-
-
-
-
1Loss-
CDC25A-
-
-
-
3Gain-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPG-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC7-
-
-
-
1Loss-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA7-
-
-
-
1Loss-
CDCA7L-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH10-
-
-
-
4Gain-
CDH11-
-
-
-
1Loss-
CDH12p.R690C
Missense
SNP
0.630
4Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH18-
-
-
-
4Gain-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH24p.P151S
Missense
SNP
0.479
2--
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
4Gain-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
4Gain-
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
3Gain-
CDK10-
-
-
-
1Loss-
CDK12p.Q1368*
Nonsense
SNP
0.498
2--
CDK13p.S1152F
Missense
SNP
0.582
1Loss-
CDK15-
-
-
-
1Loss-
CDK18-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK5-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDK5RAP2p.S1447F
Missense
SNP
0.523
2--
CDKL2-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEBPD-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPW-
-
-
-
0Del-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP192p.T680M
Missense
SNP
0.455
2--
CEP295-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP68-
-
-
-
1Loss-
CEP85L-
-
-
-
0Del-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERKL-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS6-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP20-
-
-
-
1Loss-
CFAP221-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
1Loss-
CFAP36-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP46p.M2069I
Missense
SNP
0.512
2--
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP65-
-
-
-
1Loss-
CFAP70p.S1032L
Missense
SNP
0.308
2--
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CGGBP1-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CHAC2-
-
-
-
1Loss-
CHADLp.P278L
Missense
DNP
0.664
2--
CHCHD2-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
3Gain-
CHCHD5-
-
-
-
1Loss-
CHD1-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHDH-
-
-
-
3Gain-
CHEK1-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHIT1-
-
-
-
3Gain-
CHKA-
-
-
-
1Loss-
CHL1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP2B-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHN1-
-
-
-
1Loss-
CHN2-
-
-
-
1Loss-
CHORDC1-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRNA1-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA6p.S423L
Missense
SNP
0.677
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3p.L279F
Missense
SNP
0.373
1Loss-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST10-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIAO1-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB2p.S59F
Missense
SNP
0.478
2--
CIDEC-
-
-
-
3Gain-
CILPp.R737C
Missense
SNP
0.478
2--
CIR1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CISH-
-
-
-
3Gain-
CITED2-
-
-
-
1Loss-
CIZ1p.A332V
Missense
DNP
0.519
2--
CKAP2L-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLASP1-
-
-
-
1Loss-
CLASP2-
-
-
-
3Gain-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCF1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN3p.E599K
Missense
SNP
1.000
1Loss-
CLDN15-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
0Del-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLEC4F-
-
-
-
1Loss-
CLHC1-
-
-
-
1Loss-
CLIP2p.A484V
Missense
SNP
0.526
3Gain-
CLK1-
-
-
-
1Loss-
CLK2p.S34F
Missense
DNP
0.645
3Gain-
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
3Gain-
CLN8-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLRN2-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLVS2-
-
-
-
0Del-
CMC1-
-
-
-
3Gain-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM6-
-
-
-
3Gain-
CMTM7-
-
-
-
3Gain-
CMTM8-
-
-
-
3Gain-
CMTR2-
-
-
-
1Loss-
CMYA5p.P3156S
Missense
SNP
0.503
2--
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGA1p.E666K
Missense
SNP
0.513
2--
CNGA3-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNIH2-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR3-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNNM3-
-
-
-
1Loss-
CNNM4-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT10-
-
-
-
3Gain-
CNOT11-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNRIP1-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTF-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN1p.F164C
Missense
SNP
0.419
2--
CNTN2-
-
-
-
3Gain-
CNTN3-
-
-
-
3Gain-
CNTN4-
-
-
-
3Gain-
CNTN5p.D92N
Missense
SNP
0.497
2--
CNTN6-
-
-
-
3Gain-
CNTNAP2p.P38L
Missense
SNP
0.540
5Amp-
CNTNAP4-
-
-
-
1Loss-
CNTNAP5-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA5-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COBL-
-
-
-
1Loss-
COBLL1-
-
-
-
1Loss-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COG8-
-
-
-
1Loss-
COL10A1-
-
-
-
0Del-
COL11A1-
-
-
-
1Loss-
COL19A1p.P129S
Missense
SNP
0.450
2--
COL1A2p.E1201K
Missense
SNP
0.622
2--
COL24A1-
-
-
-
1Loss-
COL25A1-
-
-
-
1Loss-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL3A1p.E1300K
Missense
SNP
0.353
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A1p.G742E
Missense
SNP
0.516
2--
COL5A2-
-
-
-
1Loss-
COL6A3-
-
-
-
1Loss-
COL6A5p.E2589K
Missense
SNP
0.416
2--
COL7A1-
-
-
-
3Gain-
COL8A1p.G384E
Missense
SNP
0.436
2--
COLCA2-
-
-
-
0Del-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
3Gain-
COMMD1-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD6-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COQ10B-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ3-
-
-
-
0Del-
COQ8A-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORINp.S441F
Missense
SNP
0.471
2--
CORO1B-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX5B-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
CPp.T87I
Missense
DNP
0.477
2--
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLX1-
-
-
-
1Loss-
CPLX3p.R69Q
Missense
DNP
0.446
2--
CPLX4-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE4p.R201C
Missense
SNP
0.479
2--
CPNE7-
-
-
-
1Loss-
CPNE9-
-
-
-
3Gain-
CPO-
-
-
-
1Loss-
CPS1p.K234N
Missense
SNP
0.411
1Loss-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPVL-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRBN-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB3L2p.P437L
Missense
SNP
0.378
2--
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
1Loss-
CREBZF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CREG2-
-
-
-
1Loss-
CRELD1-
-
-
-
3Gain-
CRHR2-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRYAB-
-
-
-
0Del-
CRYBA2-
-
-
-
1Loss-
CRYBG1-
-
-
-
0Del-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGN-
-
-
-
3Gain-
CRYZ-
-
-
-
1Loss-
CSDE1-
-
-
-
1Loss-
CSF1-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD1p.G1511W
Missense
SNP
0.240
1Loss-
CSMD2-
-
-
-
4Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSPG4p.S308L
Missense
SNP
0.497
2--
CSPG5-
-
-
-
3Gain-
CSRNP3-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSRP3-
-
-
-
3Gain-
CST6-
-
-
-
1Loss-
CTAGE1p.E58K
Missense
SNP
0.515
2--
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
3Gain-
CTDSPL2-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTNNA2-
-
-
-
1Loss-
CTNND1-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSF-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSO-
-
-
-
1Loss-
CTSS-
-
-
-
3Gain-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL3-
-
-
-
1Loss-
CUL5-
-
-
-
0Del-
CUX1-
-
-
-
3Gain-
CWC15-
-
-
-
1Loss-
CWC22-
-
-
-
1Loss-
CX3CL1-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXCR6-
-
-
-
3Gain-
CXorf67p.S452Y
Missense
SNP
1.000
NDND-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CYB561A3-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB561D2-
-
-
-
3Gain-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYBA-
-
-
-
1Loss-
CYBBp.R226Q
Missense
SNP
1.000
NDND-
CYBRD1-
-
-
-
1Loss-
CYCS-
-
-
-
1Loss-
CYLD-
-
-
-
1Loss-
CYP11A1p.G39S
Missense
SNP
0.446
2--
CYP19A1-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27C1-
-
-
-
1Loss-
CYP2E1-
-
-
-
0Del-
CYP2R1-
-
-
-
3Gain-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP4F12p.G2R
Missense
SNP
0.633
2--
CYP4V2-
-
-
-
1Loss-
CYP7A1p.P292L
Missense
DNP
0.595
2--
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
CYTIP-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DACH1-
-
-
-
3Gain-
DACT2-
-
-
-
1Loss-
DAG1-
-
-
-
3Gain-
DAGLA-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPL1-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAW1-
-
-
-
1Loss-
DAZL-
-
-
-
3Gain-
DBI-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBT-
-
-
-
1Loss-
DCAF1-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF17-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCBLD1-
-
-
-
0Del-
DCC-
-
-
-
1Loss-
DCDC1-
-
-
-
3Gain-
DCDC2Cp.G171E
Missense
SNP
0.338
2--
DCHS2p.P228S
Missense
SNP
0.992
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
3Gain-
DCLRE1B-
-
-
-
1Loss-
DCP1A-
-
-
-
3Gain-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
1Loss-
DDAH1-
-
-
-
1Loss-
DDB1-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
3Gain-
DDR2-
-
-
-
3Gain-
DDX10-
-
-
-
0Del-
DDX18-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX20-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX53p.R99S
Missense
SNP
1.000
NDND-
DDX59-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND2Cp.R362G
Missense
SNP
1.000
1Loss-
DENND2D-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND6Ap.L139*
Nonsense
SNP
0.401
3Gain-
DEPDC1-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DERAp.L276P
Missense
SNP
0.395
2--
DERL2-
-
-
-
1Loss-
DERL3p.G104R
Missense
SNP
0.333
2--
DES-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DEUP1-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGKB-
-
-
-
1Loss-
DGKD-
-
-
-
1Loss-
DGKH-
-
-
-
3Gain-
DGKQ-
-
-
-
1Loss-
DGUOK-
-
-
-
1Loss-
DHCR7-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX30-
-
-
-
3Gain-
DHX33-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIRAS3-
-
-
-
1Loss-
DIRC1-
-
-
-
1Loss-
DIS3-
-
-
-
3Gain-
DIS3Lp.P230L
Missense
DNP
0.562
2--
DIS3L2-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DIXDC1-
-
-
-
0Del-
DKK2-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLAT-
-
-
-
0Del-
DLC1-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
3Gain-
DLG1p.P685L
Missense
SNP
0.316
NDND-
DLG2-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP2p.E275D
p.D646N
Missense
Missense
SNP
SNP
0.698
0.251
1Loss-
DLL1-
-
-
-
1Loss-
DLX1-
-
-
-
1Loss-
DLX2-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
3Gain-
DNAH11-
-
-
-
1Loss-
DNAH12-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH17p.R2788C
Missense
SNP
0.561
2--
DNAH2-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH6p.D1419N
Missense
SNP
0.569
2--
DNAH7p.E535K
Missense
SNP
0.200
1Loss-
DNAH9-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC10-
-
-
-
1Loss-
DNAJC15-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC4-
-
-
-
1Loss-
DNASE1L3-
-
-
-
3Gain-
DNASE2B-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMT1p.D1632N
Missense
DNP
0.440
2--
DNPEP-
-
-
-
1Loss-
DNTTIP2-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK3-
-
-
-
3Gain-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOK1-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCR1p.E1045K
Missense
SNP
0.508
NDND-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH3-
-
-
-
3Gain-
DPH5-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP10-
-
-
-
1Loss-
DPP3-
-
-
-
1Loss-
DPP4-
-
-
-
1Loss-
DPP6-
-
-
-
3Gain-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
1Loss-
DPYDp.P789S
Missense
SNP
1.000
1Loss-
DPYSp.G107D
Missense
SNP
0.545
2--
DPYSL2-
-
-
-
1Loss-
DQX1-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRAM2-
-
-
-
1Loss-
DRAP1-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD2-
-
-
-
0Del-
DRD5-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
4Gain-
DSCAMp.S1203F
Missense
DNP
0.444
2--
DSCAML1-
-
-
-
1Loss-
DSE-
-
-
-
0Del-
DSEL-
-
-
-
1Loss-
DSPp.H643N
Missense
SNP
0.489
2--
DSPP-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTX4-
-
-
-
1Loss-
DTYMK-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP11-
-
-
-
1Loss-
DUSP12-
-
-
-
3Gain-
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP5p.K13R
Missense
SNP
0.638
2--
DUSP7-
-
-
-
3Gain-
DUT-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK3p.P557L
Missense
SNP
0.658
3Gain-
DYSF-
-
-
-
1Loss-
DYTN-
-
-
-
1Loss-
DZANK1p.X181_splice
Splice_Site
DNP
0.469
2--
E2F4-
-
-
-
1Loss-
E2F8-
-
-
-
3Gain-
EAF1-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
EBLN2-
-
-
-
3Gain-
ECEL1-
-
-
-
1Loss-
ECHDC1-
-
-
-
0Del-
ECHS1-
-
-
-
0Del-
ECM1-
-
-
-
3Gain-
ECT2L-
-
-
-
1Loss-
EDAR-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDEM1-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
3Gain-
EED-
-
-
-
1Loss-
EEF1B2-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EEPD1-
-
-
-
1Loss-
EFCAB1-
-
-
-
1Loss-
EFCAB10-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFEMP1-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFHB-
-
-
-
3Gain-
EFHD1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
1Loss-
EGLN1-
-
-
-
3Gain-
EGR3-
-
-
-
1Loss-
EGR4-
-
-
-
1Loss-
EHBP1-
-
-
-
1Loss-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF1AD-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2AK3-
-
-
-
1Loss-
EIF2D-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4Bp.R242W
Missense
SNP
0.571
2--
EIF4E-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
EIF5B-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELF1p.D76N
Missense
SNP
0.310
3Gain-
ELF2-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELOVL3p.G228E
Missense
SNP
0.541
2--
ELOVL6-
-
-
-
1Loss-
ELOVL7p.N6I
Missense
SNP
0.554
2--
ELP3-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
3Gain-
EMB-
-
-
-
3Gain-
EMC3-
-
-
-
3Gain-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMILIN2p.V306M
Missense
SNP
0.488
2--
EML3-
-
-
-
1Loss-
EML6-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
EMX1-
-
-
-
1Loss-
EN1-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENAM-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOX1-
-
-
-
3Gain-
ENPEP-
-
-
-
1Loss-
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD4-
-
-
-
1Loss-
EOGT-
-
-
-
3Gain-
EOMES-
-
-
-
3Gain-
EPB41L2-
-
-
-
1Loss-
EPB41L4Bp.H452Y
Missense
SNP
0.449
2--
EPB41L5-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPDR1-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA1p.P723L
Missense
SNP
0.564
3Gain-
EPHA3-
-
-
-
3Gain-
EPHA4-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA7-
-
-
-
0Del-
EPHA8p.S409F
Missense
SNP
0.392
2--
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX4-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
3Gain-
EPN1p.P419S
Missense
SNP
0.526
2--
EPN2-
-
-
-
1Loss-
EPRS-
-
-
-
3Gain-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
3Gain-
ERBB2p.P197L
Missense
SNP
0.463
2--
ERBB4p.R1304W
Missense
SNP
0.296
1Loss-
ERC2p.G38R
Missense
SNP
0.630
3Gain-
ERCC3-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH2-
-
-
-
1Loss-
ERICH3-
-
-
-
1Loss-
ERICH6B-
-
-
-
3Gain-
ERLEC1-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMN-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ERVV-1p.P201S
Missense
SNP
0.455
2--
ESAM-
-
-
-
1Loss-
ESCO2-
-
-
-
1Loss-
ESD-
-
-
-
3Gain-
ESPNL-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESRRBp.S202F
Missense
SNP
0.473
2--
ESRRG-
-
-
-
3Gain-
ETAA1p.G574A
Missense
SNP
0.608
1Loss-
ETFDH-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETNPPLp.G484R
Missense
SNP
1.000
1Loss-
ETS1-
-
-
-
1Loss-
ETV1-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVA1A-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
1Loss-
EVX2-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC6B-
-
-
-
1Loss-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
0Del-
EXTL2-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EZH2-
-
-
-
3Gain-
EZR-
-
-
-
1Loss-
F11-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
F8p.P1111S
Missense
SNP
1.000
NDND-
FA2H-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FABP2-
-
-
-
1Loss-
FABP7-
-
-
-
0Del-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
1Loss-
FAM102B-
-
-
-
1Loss-
FAM107A-
-
-
-
3Gain-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM117Ap.R419Q
p.P258S
Missense
Missense
DNP
SNP
0.438
0.432
2--
FAM117B-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126A-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM131Ap.Q126*
Nonsense
SNP
0.677
NDND-
FAM131B-
-
-
-
3Gain-
FAM136A-
-
-
-
1Loss-
FAM13A-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161A-
-
-
-
1Loss-
FAM162B-
-
-
-
0Del-
FAM163A-
-
-
-
3Gain-
FAM167A-
-
-
-
1Loss-
FAM168B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1p.P703S
Missense
SNP
0.530
2--
FAM171B-
-
-
-
1Loss-
FAM174A-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM178B-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM181B-
-
-
-
1Loss-
FAM184A-
-
-
-
0Del-
FAM184B-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM192A-
-
-
-
1Loss-
FAM193Ap.P806L
Missense
DNP
0.968
1Loss-
FAM198Ap.G555R
Missense
SNP
0.379
2--
FAM198B-
-
-
-
1Loss-
FAM19A1-
-
-
-
3Gain-
FAM19A3-
-
-
-
1Loss-
FAM19A4-
-
-
-
3Gain-
FAM200B-
-
-
-
1Loss-
FAM208A-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM216B-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM229B-
-
-
-
0Del-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
3Gain-
FAM241A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM3D-
-
-
-
3Gain-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM65Bp.K107N
Missense
SNP
0.465
NDND-
FAM69A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83Bp.R201L
Missense
SNP
0.132
2--
FAM83G-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FANCF-
-
-
-
3Gain-
FANCL-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FASTKD3p.E662K
Missense
SNP
0.481
2--
FAT1-
-
-
-
1Loss-
FAT3-
-
-
-
1Loss-
FAT4-
-
-
-
1Loss-
FAU-
-
-
-
1Loss-
FAXC-
-
-
-
0Del-
FBLN2-
-
-
-
3Gain-
FBLN7-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL17-
-
-
-
3Gain-
FBXL2-
-
-
-
3Gain-
FBXL3-
-
-
-
3Gain-
FBXL4-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXL8-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO27p.E32A
Missense
SNP
0.422
2--
FBXO28-
-
-
-
3Gain-
FBXO30-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO41-
-
-
-
1Loss-
FBXO48-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW12-
-
-
-
3Gain-
FBXW7-
-
-
-
1Loss-
FBXW9p.G191S
Missense
SNP
0.456
2--
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGBPp.A407T
Missense
SNP
0.509
2--
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDCSP-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
0Del-
FDXACB1-
-
-
-
0Del-
FECH-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER-
-
-
-
3Gain-
FER1L5-
-
-
-
1Loss-
FERD3L-
-
-
-
1Loss-
FERMT1p.D233N
Missense
SNP
0.481
2--
FERMT3-
-
-
-
1Loss-
FEV-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZ2p.X89_splice
Splice_Site
SNP
0.588
2--
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
3Gain-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGL1p.E19K
Missense
SNP
0.362
1Loss-
FGL2-
-
-
-
3Gain-
FH-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHIT-
-
-
-
3Gain-
FHL2-
-
-
-
1Loss-
FHL5-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FIBIN-
-
-
-
3Gain-
FIBP-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGLA-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FIGNL1-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP7-
-
-
-
1Loss-
FKBP9-
-
-
-
1Loss-
FKRPp.P442S
Missense
SNP
0.491
2--
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLGp.R2511K
p.P1784A
Missense
Missense
SNP
SNP
0.679
0.125
3Gain-
FLG2p.G1869E
Missense
SNP
0.638
3Gain-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
3Gain-
FLRT1-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FMN1p.D67E
Missense
SNP
0.457
2--
FMN2p.A476V
Missense
SNP
0.336
3GainTBC1D22A--FMN2
FMNL2-
-
-
-
1Loss-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FN1-
-
-
-
1Loss-
FNBP1L-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC5-
-
-
-
4Gain-
FNDC7-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOXA1p.G281T
Missense
DNP
0.477
2--
FOXA3p.G198E
Missense
SNP
0.496
2--
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXI3-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXL1p.P275L
Missense
DNP
1.000
1Loss-
FOXN1p.G477E
Missense
SNP
0.600
2--
FOXO1-
-
-
-
3Gain-
FOXO3-
-
-
-
0Del-
FOXP1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXRED2p.L259F
Missense
DNP
0.612
2--
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FPR3p.E11K
Missense
SNP
0.454
2--
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM2-
-
-
-
3Gain-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
0Del-
FRG2C-
-
-
-
3Gain-
FRK-
-
-
-
0Del-
FRMD1-
-
-
-
1Loss-
FRMD4B-
-
-
-
3Gain-
FRMD5-
-
-
-
1Loss-
FRMD8-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRRS1-
-
-
-
1Loss-
FRZB-
-
-
-
1Loss-
FSCN3-
-
-
-
3Gain-
FSD2p.E445K
Missense
SNP
0.561
2--
FSHB-
-
-
-
3Gain-
FSIP2p.E2217K
Missense
SNP
0.330
1Loss-
FSTL1p.S103F
Missense
SNP
0.535
2--
FSTL5-
-
-
-
1Loss-
FTCDNL1-
-
-
-
1Loss-
FTH1-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
0Del-
FUT10-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FXR1p.E33K
Missense
SNP
0.667
2--
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYCO1-
-
-
-
3Gain-
FYN-
-
-
-
0Del-
FZD3-
-
-
-
1Loss-
FZD4-
-
-
-
1Loss-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G3BP2-
-
-
-
1Loss-
G6PC2-
-
-
-
1Loss-
GAB2-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA3p.D244N
p.X111_splice
Missense
Splice_Site
SNP
SNP
1.000
1.000
NDND-
GABRB3p.R414Q
Missense
SNP
0.494
2--
GABRG1p.G425E
Missense
SNP
0.417
2--
GAD1-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GADL1-
-
-
-
3Gain-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GAL3ST3-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT13-
-
-
-
1Loss-
GALNT15-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT3-
-
-
-
1Loss-
GALNT5p.E698K
Missense
SNP
0.206
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL5-
-
-
-
3Gain-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GARS-
-
-
-
1Loss-
GAS2-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
3Gain-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GBX1-
-
-
-
3Gain-
GBX2-
-
-
-
1Loss-
GC-
-
-
-
1Loss-
GCA-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCC2-
-
-
-
1Loss-
GCFC2-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCLM-
-
-
-
1Loss-
GCOM1-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP1L1-
-
-
-
1Loss-
GDAP2-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFI1-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFPT1-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GGCT-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
1Loss-
GHRL-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIF-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIMD1-
-
-
-
1Loss-
GIN1-
-
-
-
3Gain-
GINM1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GIPC2p.R312Q
Missense
SNP
1.000
1Loss-
GJA1-
-
-
-
0Del-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GKN1-
-
-
-
1Loss-
GKN2-
-
-
-
1Loss-
GLB1-
-
-
-
3Gain-
GLB1L-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI2-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLIS3-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLP2R-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLS-
-
-
-
1Loss-
GLT8D1-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GLYCTK-
-
-
-
3Gain-
GMCL1-
-
-
-
1Loss-
GMIPp.A951T
Missense
DNP
0.472
2--
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
3Gain-
GNAI3-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNAT1-
-
-
-
3Gain-
GNAT2-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG12-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
1Loss-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNRH1-
-
-
-
1Loss-
GNRHR-
-
-
-
1Loss-
GOLGA4-
-
-
-
3Gain-
GOLGA7-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GOPC-
-
-
-
0Del-
GORASP2-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPAT2-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH3p.P213S
Missense
DNP
0.523
2--
GPATCH4-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPD1L-
-
-
-
3Gain-
GPD2-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHA2-
-
-
-
1Loss-
GPM6A-
-
-
-
1Loss-
GPNMB-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR107p.P375L
Missense
DNP
0.443
2--
GPR137-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR141-
-
-
-
1Loss-
GPR146-
-
-
-
3Gain-
GPR148-
-
-
-
1Loss-
GPR152-
-
-
-
1Loss-
GPR155-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR17-
-
-
-
1Loss-
GPR179p.G1640K
Missense
DNP
0.436
2--
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR39-
-
-
-
1Loss-
GPR45-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR6-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR62-
-
-
-
3Gain-
GPR63-
-
-
-
0Del-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR88-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC6A-
-
-
-
0Del-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX1-
-
-
-
3Gain-
GRAMD1Bp.W516*
Nonsense
SNP
1.000
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10p.S499F
Missense
SNP
0.659
1Loss-
GRB14-
-
-
-
1Loss-
GREB1Lp.G1328D
Missense
SNP
0.468
2--
GREM2-
-
-
-
3Gain-
GRIA2-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1p.G771E
Missense
SNP
0.411
2--
GRIK2-
-
-
-
0Del-
GRIK4-
-
-
-
1Loss-
GRIN3Ap.G603E
Missense
SNP
0.454
2--
GRIP2-
-
-
-
3Gain-
GRK2-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRM1-
-
-
-
1Loss-
GRM2-
-
-
-
3Gain-
GRM3p.G18E
Missense
SNP
0.572
3Gain-
GRM5-
-
-
-
1Loss-
GRM7p.D578N
Missense
SNP
0.369
3Gain-
GRM8-
-
-
-
3Gain-
GRNp.P578S
Missense
SNP
0.497
2--
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSDME-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTDC1-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F2-
-
-
-
3Gain-
GTF2H1-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C3-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTSF1p.R56H
Missense
SNP
0.531
2--
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GULP1-
-
-
-
1Loss-
GUSBp.S81Y
Missense
DNP
0.603
3Gain-
GVQW2-
-
-
-
1Loss-
GVQW3-
-
-
-
1Loss-
GXYLT2-
-
-
-
3Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPC-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
0Del-
HACL1-
-
-
-
3Gain-
HADH-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO2-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAS3-
-
-
-
1Loss-
HAT1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HBS1L-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HDAC11-
-
-
-
3Gain-
HDAC2-
-
-
-
0Del-
HDAC4-
-
-
-
1Loss-
HDAC9-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDDC2-
-
-
-
0Del-
HDGF-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEATR6p.P624S
Missense
SNP
0.545
2--
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECW2-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HEMK1-
-
-
-
3Gain-
HENMT1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC3-
-
-
-
1Loss-
HERC5p.L236F
Missense
SNP
1.000
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2p.P321S
Missense
SNP
0.610
1Loss-
HES6-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
3Gain-
HEXIM2p.A3V
Missense
SNP
0.436
2--
HEY2-
-
-
-
0Del-
HFM1p.E1250K
Missense
SNP
0.939
1Loss-
HGF-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHIP-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA3-
-
-
-
1Loss-
HIBADH-
-
-
-
1Loss-
HIBCHp.G181D
Missense
SNP
0.345
1Loss-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HINT3-
-
-
-
0Del-
HIP1-
-
-
-
3Gain-
HIPK1-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HJURP-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK2-
-
-
-
1Loss-
HLX-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMBS-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMGB2-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HNMT-
-
-
-
1Loss-
HNRNPA2B1p.E192K
Missense
SNP
0.644
1Loss-
HNRNPA3-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HOPX-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HOXA1-
-
-
-
1Loss-
HOXA10-
-
-
-
1Loss-
HOXA11-
-
-
-
1Loss-
HOXA13-
-
-
-
1Loss-
HOXA2-
-
-
-
1Loss-
HOXA3-
-
-
-
1Loss-
HOXA4-
-
-
-
1Loss-
HOXA5-
-
-
-
1Loss-
HOXA6-
-
-
-
1Loss-
HOXA7-
-
-
-
1Loss-
HOXA9-
-
-
-
1Loss-
HOXD1-
-
-
-
1Loss-
HOXD10-
-
-
-
1Loss-
HOXD11-
-
-
-
1Loss-
HOXD12-
-
-
-
1Loss-
HOXD13-
-
-
-
1Loss-
HOXD3-
-
-
-
1Loss-
HOXD4-
-
-
-
1Loss-
HOXD8p.Q184E
Missense
SNP
0.330
1Loss-
HOXD9-
-
-
-
1Loss-
HPp.D246N
Missense
SNP
0.980
1Loss-
HPCA-
-
-
-
4Gain-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS5-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRH1-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
1Loss-
HS3ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST5-
-
-
-
0Del-
HS6ST1-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSD3B2-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF2-
-
-
-
0Del-
HSF4-
-
-
-
1Loss-
HSPA12Ap.T623M
Missense
SNP
0.570
2--
HSPA4L-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB2-
-
-
-
0Del-
HSPB2-C11orf52-
-
-
-
0Del-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HTD2-
-
-
-
3Gain-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1Ap.E340K
Missense
SNP
0.505
2--
HTR1F-
-
-
-
3Gain-
HTR2A-
-
-
-
3Gain-
HTR2B-
-
-
-
1Loss-
HTR3A-
-
-
-
0Del-
HTR3B-
-
-
-
0Del-
HTR5A-
-
-
-
3Gain-
HTRA2-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUS1-
-
-
-
1Loss-
HUWE1p.P2999L
Missense
SNP
0.991
NDND-
HYAL1-
-
-
-
3Gain-
HYAL2-
-
-
-
3Gain-
HYAL3-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IARS2p.P247S
Missense
SNP
0.287
3Gain-
IBA57-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
ICA1p.E352K
Missense
SNP
0.366
3Gain-
ICA1L-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDH2p.Q267*
Nonsense
DNP
0.454
2--
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER3-
-
-
-
3Gain-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFIH1-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IGF2BP3-
-
-
-
1Loss-
IGF2R-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGHMBP2-
-
-
-
1Loss-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV1D-8p.T96I
Missense
SNP
0.275
NDND-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLV1-44p.Y69H
Missense
SNP
0.386
NDND-
IGLV5-37p.E108*
Nonsense
SNP
0.579
NDND-
IGSF10p.P1240S
Missense
SNP
0.469
2--
IGSF22-
-
-
-
3Gain-
IGSF3-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL10-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL12RB2-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17RBp.X224_splice
Splice_Site
SNP
0.385
3Gain-
IL17RC-
-
-
-
3Gain-
IL17RD-
-
-
-
3Gain-
IL17RE-
-
-
-
3Gain-
IL18-
-
-
-
0Del-
IL18BP-
-
-
-
1Loss-
IL18R1-
-
-
-
1Loss-
IL18RAP-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL1A-
-
-
-
1Loss-
IL1B-
-
-
-
1Loss-
IL1F10-
-
-
-
1Loss-
IL1R1-
-
-
-
1Loss-
IL1R2-
-
-
-
1Loss-
IL1RL1-
-
-
-
1Loss-
IL1RL2-
-
-
-
1Loss-
IL1RN-
-
-
-
1Loss-
IL2-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL21-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL23R-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL33-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL36A-
-
-
-
1Loss-
IL36B-
-
-
-
1Loss-
IL36G-
-
-
-
1Loss-
IL36RN-
-
-
-
1Loss-
IL37-
-
-
-
1Loss-
IL5RA-
-
-
-
3Gain-
IL6-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL7R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILKAP-
-
-
-
1Loss-
IMMP2L-
-
-
-
5Amp-
IMP4-
-
-
-
1Loss-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
3Gain-
INAVA-
-
-
-
3Gain-
INCENP-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
ING3p.S318F
Missense
DNP
0.524
3Gain-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INHBB-
-
-
-
1Loss-
INKA1-
-
-
-
3Gain-
INKA2-
-
-
-
1Loss-
INMT-
-
-
-
1Loss-
INMT-MINDY4-
-
-
-
1Loss-
INO80B-
-
-
-
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INO80D-
-
-
-
1Loss-
INPP1-
-
-
-
1Loss-
INPP4A-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INPPL1-
-
-
-
1Loss-
INSC-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INSIG2-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INTS1p.P456S
Missense
SNP
0.441
3Gain-
INTS10-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
1Loss-
INTS4P1.
Splice_Site
SNP
0.485
NDND-
INTS5-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IP6K1-
-
-
-
3Gain-
IP6K2-
-
-
-
3Gain-
IP6K3p.E159K
Missense
SNP
0.449
2--
IPCEF1-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
3Gain-
IQCF2-
-
-
-
3Gain-
IQCF3-
-
-
-
3Gain-
IQCF5-
-
-
-
3Gain-
IQCF6-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
3Gain-
IQSEC3p.S855F
p.T946A
Missense
Missense
SNP
SNP
0.444
0.538
2--
IQUB-
-
-
-
3Gain-
IRAK2-
-
-
-
3Gain-
IRF2-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2p.P910L
Missense
SNP
1.000
2--
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISPD-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11p.G307E
Missense
SNP
0.372
2--
ITGA4-
-
-
-
1Loss-
ITGA6-
-
-
-
1Loss-
ITGA9-
-
-
-
3Gain-
ITGADp.E545K
Missense
SNP
0.496
2--
ITGALp.Q818*
Nonsense
SNP
0.491
2--
ITGAMp.G934E
Missense
SNP
0.520
2--
ITGAV-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB2p.D231N
Missense
SNP
0.517
2--
ITGB6-
-
-
-
1Loss-
ITGB8-
-
-
-
1Loss-
ITGBL1p.D456N
Missense
SNP
1.000
2--
ITIH1-
-
-
-
3Gain-
ITIH3-
-
-
-
3Gain-
ITIH4-
-
-
-
3Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITM2C-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPR1-
-
-
-
3Gain-
ITPRID1-
-
-
-
1Loss-
ITPRID2-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IWS1-
-
-
-
1Loss-
IYD-
-
-
-
1Loss-
IZUMO1R-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAG1p.A155T
Missense
SNP
0.328
2--
JAGN1-
-
-
-
3Gain-
JAK2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JAZF1-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUPp.E387K
Missense
SNP
0.326
2--
KALRNp.X24_splice
p.E716K
Splice_Site
Missense
SNP
SNP
0.318
0.505
2--
KANK1-
-
-
-
1Loss-
KANK4p.G549E
Missense
SNP
0.524
2--
KANSL1L-
-
-
-
1Loss-
KANSL3-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT2B-
-
-
-
3Gain-
KAT5-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KAT6Bp.P464L
Missense
SNP
0.627
2--
KATNA1-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KBTBD11p.D506N
Missense
SNP
0.350
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD2-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KBTBD8-
-
-
-
3Gain-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA4-
-
-
-
3Gain-
KCNAB3p.P28L
Missense
SNP
0.955
1Loss-
KCNB2p.S655F
Missense
SNP
0.556
2--
KCNC1-
-
-
-
3Gain-
KCNC4-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCND3-
-
-
-
1Loss-
KCNE3-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG4p.W74*
Nonsense
SNP
1.000
1Loss-
KCNH1-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH7-
-
-
-
1Loss-
KCNH8p.S536F
Missense
SNP
0.393
3Gain-
KCNIP3-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ3-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNK9p.G97E
Missense
SNP
0.465
2--
KCNMB2p.E93K
Missense
SNP
0.566
2--
KCNN3-
-
-
-
3Gain-
KCNS3p.Y321H
Missense
SNP
0.344
2--
KCNT1p.W425*
Nonsense
SNP
0.516
2--
KCNT2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
3Gain-
KCTD14-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD21-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KCTD6-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KCTD9-
-
-
-
1Loss-
KDELC2-
-
-
-
0Del-
KDELR2-
-
-
-
3Gain-
KDM2A-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5Ap.P1533L
Missense
SNP
0.589
2--
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDRp.R1022Q
Missense
SNP
1.000
1Loss-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KHDC1Lp.T62I
Missense
SNP
0.498
2--
KHDC4-
-
-
-
3Gain-
KHDRBS2p.G308E
Missense
SNP
0.441
2--
KIAA0040-
-
-
-
3Gain-
KIAA0232p.S1368F
Missense
SNP
0.984
1Loss-
KIAA0408-
-
-
-
0Del-
KIAA0513-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0895-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1211L-
-
-
-
1Loss-
KIAA1217p.D1772N
p.P1919L
Missense
Missense
SNP
SNP
0.453
0.467
2--
KIAA1324-
-
-
-
1Loss-
KIAA1324Lp.P357L
Missense
SNP
0.573
3Gain-
KIAA1462p.S571L
Missense
SNP
0.491
NDND-
KIAA1522-
-
-
-
4Gain-
KIAA1614-
-
-
-
3Gain-
KIAA1841-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF17p.E523K
Missense
DNP
0.445
2--
KIF18A-
-
-
-
3Gain-
KIF1A-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF25-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF3Bp.R132Q
Missense
SNP
0.466
2--
KIF5Ap.E453K
Missense
SNP
0.538
2--
KIF5C-
-
-
-
1Loss-
KIF9-
-
-
-
3Gain-
KIFC3-
-
-
-
1Loss-
KIR3DL1p.R52C
Missense
SNP
0.441
2--
KIR3DL3p.L226F
Missense
SNP
0.432
2--
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
3Gain-
KIT-
-
-
-
1Loss-
KLC2-
-
-
-
1Loss-
KLF12-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF5-
-
-
-
3Gain-
KLF7-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL14p.G477E
Missense
SNP
0.469
2--
KLHL18-
-
-
-
3Gain-
KLHL2-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL23-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL32-
-
-
-
0Del-
KLHL35-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL41-
-
-
-
1Loss-
KLHL7-
-
-
-
1Loss-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5B-
-
-
-
1Loss-
KPNA5-
-
-
-
0Del-
KPRP-
-
-
-
3Gain-
KRASp.G12C
Missense
SNP
0.612
2--
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KRT23p.G198R
Missense
SNP
0.476
2--
KRT33Ap.S309F
Missense
SNP
0.554
2--
KRT7p.X231_splice
Splice_Site
SNP
0.526
2--
KRT84p.G43R
Missense
SNP
0.549
2--
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTAP9-4p.R103K
Missense
SNP
0.427
2--
KRTCAP2-
-
-
-
3Gain-
KTI12p.G142E
Missense
SNP
0.522
2--
KYAT3-
-
-
-
1Loss-
KYNU-
-
-
-
1Loss-
L1TD1p.E466K
Missense
SNP
0.427
2--
L3MBTL3-
-
-
-
0Del-
LACC1-
-
-
-
3Gain-
LACTB2-
-
-
-
1Loss-
LACTBL1p.K198E
Missense
SNP
0.536
2--
LAD1-
-
-
-
3Gain-
LAMA2-
-
-
-
0Del-
LAMA4p.S1632F
Missense
SNP
1.000
0Del-
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
3Gain-
LAMB3p.G1149R
Missense
SNP
0.636
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP2p.L150F
Missense
DNP
1.000
NDND-
LAMTOR1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
1Loss-
LAP3-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LARS2-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS1-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LAYN-
-
-
-
0Del-
LBHD1-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
LBX2-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCKp.R39Q
Missense
SNP
0.388
2--
LCMT2-
-
-
-
1Loss-
LCORp.Q1013H
Missense
SNP
0.388
2--
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
3Gain-
LCT-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDHA-
-
-
-
3Gain-
LDHAL6A-
-
-
-
3Gain-
LDHC-
-
-
-
3Gain-
LDHD-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEPp.Q96*
Nonsense
SNP
0.530
3Gain-
LEPRp.W646*
p.R1088T
Nonsense
Missense
SNP
SNP
0.698
0.531
2--
LEPROTL1-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS12-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGALSL-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGR4-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LHFPp.A180V
Missense
SNP
0.333
NDND-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX8-
-
-
-
1Loss-
LHX9-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LIG3p.T568R
Missense
SNP
0.490
2--
LIMD1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIMS1-
-
-
-
1Loss-
LIMS2-
-
-
-
1Loss-
LIMS3-
-
-
-
1Loss-
LIMS3-LOC440895-
-
-
-
1Loss-
LIMS4-
-
-
-
1Loss-
LIN28B-
-
-
-
0Del-
LIN54-
-
-
-
1Loss-
LIN7C-
-
-
-
3Gain-
LIN9-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LIPEp.A860T
Missense
SNP
0.507
2--
LIPG-
-
-
-
1Loss-
LIPT1-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN2L-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMO4-
-
-
-
1Loss-
LMO7p.P531L
Missense
SNP
0.625
3Gain-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
3Gain-
LMTK2p.S1424P
Missense
SNP
0.356
2--
LMX1A-
-
-
-
3Gain-
LNPK-
-
-
-
1Loss-
LNX1-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LONRF2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LOXL3-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LPOp.E490K
Missense
SNP
0.535
2--
LPXN-
-
-
-
1Loss-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
3Gain-
LRFN4-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
3Gain-
LRIG2-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRP1B-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP5-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRRC10B-
-
-
-
1Loss-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC2-
-
-
-
3Gain-
LRRC29-
-
-
-
1Loss-
LRRC32-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC3B-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC40-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC53-
-
-
-
1Loss-
LRRC55-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC66-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC72p.R156C
Missense
SNP
0.638
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
3Gain-
LRRIQ3-
-
-
-
1Loss-
LRRK1p.P664S
Missense
DNP
0.472
2--
LRRN1-
-
-
-
3Gain-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRN4CL-
-
-
-
1Loss-
LRRTM1-
-
-
-
1Loss-
LRRTM2p.G356E
Missense
SNP
1.000
2--
LRSAM1p.E307K
Missense
DNP
0.433
2--
LRTM1-
-
-
-
3Gain-
LRTM2p.S367F
Missense
SNP
0.481
2--
LRTOMT-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM3-
-
-
-
3Gain-
LSM5-
-
-
-
1Loss-
LSM6-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
3Gain-
LTBP2p.S668F
Missense
SNP
0.424
2--
LTBP3-
-
-
-
1Loss-
LTFp.L610F
Missense
SNP
0.384
3Gain-
LTO1-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP2-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LY75-
-
-
-
1Loss-
LY75-CD302-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYG1-
-
-
-
1Loss-
LYG2-
-
-
-
1Loss-
LYPD1-
-
-
-
1Loss-
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LZTFL1-
-
-
-
3Gain-
LZTS1-
-
-
-
1Loss-
M1AP-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MAB21L3-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
1Loss-
MACROD1-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAFK-
-
-
-
3Gain-
MAGI1-
-
-
-
3Gain-
MAGI2-
-
-
-
3Gain-
MAGI3p.R1314Q
Missense
SNP
0.989
1Loss-
MAIP1-
-
-
-
1Loss-
MAJIN-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAL-
-
-
-
1Loss-
MALL-
-
-
-
1Loss-
MALSU1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAMSTRp.R76K
Missense
SNP
0.529
2--
MAN1A1-
-
-
-
0Del-
MAN1A2-
-
-
-
1Loss-
MAN1C1p.P616S
Missense
SNP
0.467
2--
MAN2B2-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5p.I104L
Missense
SNP
0.481
2--
MAP3K11-
-
-
-
1Loss-
MAP3K19-
-
-
-
1Loss-
MAP3K2-
-
-
-
1Loss-
MAP3K20-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
0Del-
MAP4p.P1475L
Missense
SNP
0.579
3Gain-
MAP4K2-
-
-
-
1Loss-
MAP4K4p.R998Q
Missense
SNP
0.616
1Loss-
MAP6-
-
-
-
1Loss-
MAP7-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH1-
-
-
-
1Loss-
MARCH10p.E665K
Missense
SNP
0.486
2--
MARCH11-
-
-
-
3Gain-
MARCH4-
-
-
-
1Loss-
MARCH7-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARCKS-
-
-
-
0Del-
MARCO-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK2-
-
-
-
1Loss-
MARS2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD5-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCEE-
-
-
-
1Loss-
MCHR2-
-
-
-
0Del-
MCL1-
-
-
-
3Gain-
MCM4-
-
-
-
1Loss-
MCM6-
-
-
-
1Loss-
MCM9-
-
-
-
0Del-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCRIP1p.P77L
Missense
DNP
0.489
2--
MCTP1p.E310K
Missense
SNP
0.475
2--
MCUB-
-
-
-
1Loss-
MDC1-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH1-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MECOMp.R711K
Missense
SNP
0.675
2--
MED17-
-
-
-
1Loss-
MED19-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
3Gain-
MED9-
-
-
-
1Loss-
MEF2Bp.P189L
Missense
SNP
0.475
2--
MEF2D-
-
-
-
3Gain-
MEFVp.G320R
Missense
SNP
0.525
2--
MEIS1-
-
-
-
1Loss-
MEN1-
-
-
-
1Loss-
MEOX2-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MERTK-
-
-
-
1Loss-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1-
-
-
-
1Loss-
METAP1D-
-
-
-
1Loss-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
3Gain-
METTL21A-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
METTL2B-
-
-
-
3Gain-
METTL5-
-
-
-
1Loss-
METTL6-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL8-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD2Ap.W122*
Nonsense
SNP
0.415
2--
MFSD4A-
-
-
-
3Gain-
MFSD4B-
-
-
-
0Del-
MFSD6-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MFSD9-
-
-
-
1Loss-
MGAM2-
-
-
-
3Gain-
MGARP-
-
-
-
1Loss-
MGAT4A-
-
-
-
1Loss-
MGAT5-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MICAL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICU3-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY4-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MITD1-
-
-
-
1Loss-
MITF-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLH1-
-
-
-
3Gain-
MLIPp.P789S
Missense
SNP
0.375
2--
MLKL-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLNp.E59K
Missense
SNP
0.430
2--
MLPH-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMADHC-
-
-
-
1Loss-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MMS22L-
-
-
-
0Del-
MND1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOB1A-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB4-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MOGAT3-
-
-
-
3Gain-
MOGS-
-
-
-
1Loss-
MON1A-
-
-
-
3Gain-
MON1B-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPHOSPH10-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPLKIP-
-
-
-
1Loss-
MPP4-
-
-
-
1Loss-
MPP6-
-
-
-
1Loss-
MPPED2-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MR1-
-
-
-
3Gain-
MRE11-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRGPRX1-
-
-
-
3Gain-
MRGPRX2-
-
-
-
3Gain-
MRGPRX3-
-
-
-
3Gain-
MRGPRX4-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL15-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL19-
-
-
-
1Loss-
MRPL21-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL30-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL53-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL58p.W110*
Nonsense
SNP
0.621
2--
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS17-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS25-
-
-
-
3Gain-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS5-
-
-
-
1Loss-
MRPS9-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
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-
MSC-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSLNLp.G272D
Missense
SNP
0.463
2--
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
3Gain-
MST1R-
-
-
-
3Gain-
MSTN-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTG1-
-
-
-
0Del-
MTHFD1L-
-
-
-
1Loss-
MTHFD2-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTIF2-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR14-
-
-
-
3Gain-
MTMR2-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
1Loss-
MTUS1-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MTX2-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC15p.E70K
Missense
SNP
0.340
3Gain-
MUC16p.E12604K
Missense
SNP
0.230
2--
MUC4p.P726L
Missense
SNP
0.357
NDND-
MUC6p.D1114N
Missense
SNP
0.511
2--
MUC7-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MUSTN1-
-
-
-
3Gain-
MVD-
-
-
-
1Loss-
MVKp.A111V
Missense
DNP
0.408
2--
MX2p.P46S
Missense
SNP
0.532
2--
MXD1-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYBPHL-
-
-
-
1Loss-
MYCBP2p.P2294S
Missense
SNP
0.627
3Gain-
MYCT1-
-
-
-
1Loss-
MYD88-
-
-
-
3Gain-
MYEF2-
-
-
-
1Loss-
MYEOV-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E22K
Missense
SNP
0.497
2--
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL3-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO18Bp.A2177T
Missense
SNP
0.374
2--
MYO1B-
-
-
-
1Loss-
MYO3Bp.H154Y
Missense
SNP
0.599
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO6p.H434Y
Missense
SNP
0.503
2--
MYO7A-
-
-
-
1Loss-
MYO7B-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYZAP-
-
-
-
1Loss-
MZT1-
-
-
-
3Gain-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA16-
-
-
-
3Gain-
NAA25p.X95_splice
Splice_Site
SNP
0.432
2--
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA80-
-
-
-
3Gain-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAALADL2p.H241L
Missense
SNP
0.436
2--
NAB1-
-
-
-
1Loss-
NABP1-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NADSYN1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NAGK-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
1Loss-
NAT8-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAV2-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBPF9-
-
-
-
3Gain-
NCAM1-
-
-
-
0Del-
NCAPD3-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCAPH-
-
-
-
1Loss-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCK2-
-
-
-
1Loss-
NCKAP1-
-
-
-
1Loss-
NCKAP5-
-
-
-
1Loss-
NCKIPSD-
-
-
-
3Gain-
NCL-
-
-
-
1Loss-
NCOA2-
-
-
-
1Loss-
NCOA4-
-
-
-
1Loss-
NCOA7-
-
-
-
0Del-
NCOR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
3Gain-
NDNF-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFAF3-
-
-
-
3Gain-
NDUFAF4-
-
-
-
0Del-
NDUFB9p.X137_splice
Splice_Site
SNP
0.387
2--
NDUFC1-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS1p.X435_splice
Splice_Site
SNP
0.593
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NEBp.R3149K
p.G714E
Missense
Missense
SNP
SNP
0.264
0.447
1Loss-
NECAB2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEGR1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
3Gain-
NEK2-
-
-
-
3Gain-
NEK4-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFA-
-
-
-
1Loss-
NEMP2-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL3-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD1-
-
-
-
1Loss-
NEUROD6-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NF1p.A1224V
Missense
SNP
0.421
2--
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE2L2-
-
-
-
1Loss-
NFE2L3-
-
-
-
1Loss-
NFE4-
-
-
-
3Gain-
NFIBp.S74F
Missense
SNP
1.000
1Loss-
NFKB1-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFU1-
-
-
-
1Loss-
NGEFp.P544L
Missense
DNP
0.451
1Loss-
NGF-
-
-
-
1Loss-
NGLY1-
-
-
-
3Gain-
NHEJ1p.S188F
Missense
SNP
0.525
1Loss-
NHLH1-
-
-
-
3Gain-
NHLH2-
-
-
-
1Loss-
NHLRC3-
-
-
-
3Gain-
NHSL1-
-
-
-
1Loss-
NICN1-
-
-
-
3Gain-
NID1p.R838C
Missense
SNP
0.385
3Gain-
NIF3L1-
-
-
-
1Loss-
NIFK-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
1Loss-
NISCH-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN2-
-
-
-
0Del-
NKAPD1-
-
-
-
0Del-
NKD1-
-
-
-
1Loss-
NKIRAS1-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP4p.E21K
Missense
SNP
0.497
2--
NLRP7p.S1025F
Missense
SNP
0.525
2--
NLRP8p.E38K
Missense
SNP
0.474
2--
NLRP9p.S411F
Missense
SNP
0.494
2--
NLRX1-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME6-
-
-
-
3Gain-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
1Loss-
NMI-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMS-
-
-
-
1Loss-
NMU-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NNMT-
-
-
-
0Del-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOP14-
-
-
-
1Loss-
NOP58-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOS2p.P4L
Missense
SNP
0.496
2--
NOS3-
-
-
-
3Gain-
NOSTRIN-
-
-
-
1Loss-
NOTCH1p.P362S
Missense
SNP
0.446
2--
NOTCH2NLA-
-
-
-
3Gain-
NOTO-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOX4-
-
-
-
1Loss-
NPAP1p.P263S
p.P423L
Missense
Missense
SNP
SNP
0.470
0.523
2--
NPAS2-
-
-
-
1Loss-
NPAS4-
-
-
-
1Loss-
NPAT-
-
-
-
0Del-
NPBWR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHP1-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPLOC4p.S546F
Missense
SNP
0.559
2--
NPM2-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
3Gain-
NPSR1-
-
-
-
1Loss-
NPVF-
-
-
-
1Loss-
NPY-
-
-
-
1Loss-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR1D2-
-
-
-
3Gain-
NR1H4p.P11S
Missense
SNP
0.452
2--
NR1I3-
-
-
-
3Gain-
NR2C2-
-
-
-
3Gain-
NR2E1-
-
-
-
0Del-
NR3C2-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRAS-
-
-
-
1Loss-
NRCAM-
-
-
-
3Gain-
NRDCp.G298R
Missense
SNP
0.479
2--
NRF1-
-
-
-
3Gain-
NRG1p.K80E
Missense
SNP
0.695
1Loss-
NRGN-
-
-
-
1Loss-
NRKp.G1030E
Missense
SNP
1.000
NDND-
NRM-
-
-
-
3Gain-
NRN1L-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRXN1-
-
-
-
0Del-
NRXN2-
-
-
-
1Loss-
NRXN3p.L415H
Missense
SNP
0.471
2--
NSD2-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMAFp.D355N
Missense
SNP
0.497
2--
NSUN3-
-
-
-
3Gain-
NT5C3A-
-
-
-
1Loss-
NT5DC1-
-
-
-
0Del-
NT5DC2-
-
-
-
3Gain-
NT5DC4p.G86E
Missense
SNP
0.382
1Loss-
NT5M-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCB2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
3Gain-
NUDT15-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUDT6-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUGGC-
-
-
-
1Loss-
NUMA1p.E653Q
Missense
DNP
1.000
1Loss-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP188p.S831F
Missense
SNP
0.384
2--
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP35-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUPL2-
-
-
-
1Loss-
NUPR2-
-
-
-
1Loss-
NUS1-
-
-
-
0Del-
NUTF2-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
NXF1-
-
-
-
1Loss-
NXPE1-
-
-
-
0Del-
NXPE2-
-
-
-
0Del-
NXPE4-
-
-
-
0Del-
NXPH1-
-
-
-
3Gain-
NXPH2-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBFC1p.L351Q
Missense
SNP
0.648
NDND-
OBSCN-
-
-
-
3Gain-
OBSL1-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF2L-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGFOD1-
-
-
-
1Loss-
OGG1-
-
-
-
3Gain-
OLA1-
-
-
-
1Loss-
OLFM3-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLIG3-
-
-
-
1Loss-
OMP-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPHN1p.E733K
Missense
SNP
1.000
NDND-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPRK1-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G2p.G2E
Missense
SNP
0.427
2--
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR10Q1-
-
-
-
1Loss-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13A1-
-
-
-
1Loss-
OR13F1p.R307K
Missense
SNP
0.534
2--
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36p.N170K
Missense
SNP
0.292
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1L3p.R271Q
Missense
SNP
0.539
2--
OR1N1p.S91F
Missense
SNP
0.509
2--
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A4-
-
-
-
1Loss-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2AP1-
-
-
-
3Gain-
OR2AT4-
-
-
-
1Loss-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3p.S67F
Missense
SNP
0.684
3Gain-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47p.S76F
Missense
SNP
0.407
2--
OR4A5-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3p.S181L
Missense
SNP
0.418
2--
OR4C46p.P259L
Missense
SNP
1.000
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4P4-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR51E1p.V52L
Missense
SNP
0.426
2--
OR51Q1p.S310F
Missense
SNP
0.497
2--
OR52D1p.P288L
Missense
SNP
0.513
2--
OR52E5p.P81S
Missense
SNP
0.532
2--
OR56A4p.G15S
Missense
SNP
0.465
2--
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
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-
OR5H1p.Y251*
Nonsense
SNP
0.482
2--
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8-
-
-
-
1Loss-
OR5M9-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6B1-
-
-
-
3Gain-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76p.L61F
Missense
SNP
0.541
3Gain-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Q1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
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-
OR8K1p.L165P
Missense
SNP
1.000
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4p.L65F
Missense
SNP
0.564
2--
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9K2-
-
-
-
3Gain-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI2-
-
-
-
3Gain-
ORC2-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORC5-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
ORMDL1-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBPL10-
-
-
-
3Gain-
OSBPL3-
-
-
-
1Loss-
OSBPL6-
-
-
-
1Loss-
OSER1-
-
-
-
1Loss-
OSGEPL1-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSMR-
-
-
-
3Gain-
OSTC-
-
-
-
1Loss-
OSTM1-
-
-
-
0Del-
OTOG-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2p.M373I
Missense
SNP
0.553
2--
OTORp.D54N
Missense
SNP
0.530
2--
OTOS-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX1-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXNAD1-
-
-
-
3Gain-
OXSM-
-
-
-
3Gain-
OXSR1-
-
-
-
3Gain-
OXTR-
-
-
-
3Gain-
P2RX3-
-
-
-
1Loss-
P3H2p.G660R
Missense
SNP
0.621
NDND-
P4HA3-
-
-
-
1Loss-
P4HTM-
-
-
-
3Gain-
PABPC4L-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAIP2B-
-
-
-
1Loss-
PAK1-
-
-
-
1Loss-
PAK5p.P108L
Missense
SNP
0.544
2--
PAK6p.G340S
Missense
SNP
0.436
2--
PALLD-
-
-
-
1Loss-
PALMD-
-
-
-
1Loss-
PAM-
-
-
-
3Gain-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
0Del-
PAPOLG-
-
-
-
1Loss-
PAPPA2-
-
-
-
3Gain-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PARD3B-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARM1-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP3-
-
-
-
3Gain-
PASK-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATL1-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAX2p.G155E
Missense
SNP
0.605
2--
PAX3-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAX8-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
1Loss-
PCBP1-
-
-
-
1Loss-
PCBP3p.A108L
Missense
DNP
0.451
2--
PCBP4-
-
-
-
3Gain-
PCCAp.N281Y
Missense
SNP
0.514
2--
PCDH10-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
1Loss-
PCDH9p.P230S
Missense
SNP
0.637
4Gain-
PCDHA10-
-
-
-
0Del-
PCDHA9-
-
-
-
0Del-
PCDHB9p.Y309*
Nonsense
SNP
1.000
2--
PCDHGB2p.P153S
Missense
SNP
1.000
2--
PCF11p.L1111I
Missense
SNP
1.000
1Loss-
PCGF1-
-
-
-
1Loss-
PCGF3-
-
-
-
1Loss-
PCLOp.G1750E
p.G396R
Missense
Missense
SNP
SNP
0.593
0.621
3Gain-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCNX1p.P2118S
Missense
SNP
0.515
2--
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK5p.E1310K
Missense
SNP
0.514
2--
PCSK7-
-
-
-
1Loss-
PCYOX1-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
3Gain-
PDCL2-
-
-
-
1Loss-
PDCL3-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE11Ap.A590T
Missense
SNP
0.582
1Loss-
PDE12-
-
-
-
3Gain-
PDE1A-
-
-
-
1Loss-
PDE1C-
-
-
-
1Loss-
PDE2A-
-
-
-
1Loss-
PDE3B-
-
-
-
3Gain-
PDE4Dp.D636N
Missense
SNP
0.425
2--
PDE4DIPp.R430*
Nonsense
SNP
0.626
3Gain-
PDE5A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE7B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFC-
-
-
-
1Loss-
PDGFD-
-
-
-
1Loss-
PDGFRA-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
3Gain-
PDIA3-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDK1-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS2-
-
-
-
0Del-
PDZD2-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PECR-
-
-
-
1Loss-
PELI1-
-
-
-
1Loss-
PELI3-
-
-
-
1Loss-
PELP1p.Q1101*
Nonsense
SNP
0.436
2--
PEMT-
-
-
-
1Loss-
PENKp.R209Q
Missense
SNP
0.444
2--
PER1-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX13-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB4-
-
-
-
3Gain-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAP1-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGGT1B-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM2L1-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHC2-
-
-
-
4Gain-
PHF10-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF7-
-
-
-
3Gain-
PHKA1p.G421R
Missense
SNP
1.000
NDND-
PHKA2p.E685K
Missense
SNP
1.000
NDND-
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
1Loss-
PHOX2A-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
3Gain-
PICALM-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGXp.G241R
Missense
SNP
0.658
NDND-
PIGY-
-
-
-
1Loss-
PIH1D2-
-
-
-
0Del-
PIK3C2A-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6p.G349E
Missense
SNP
0.972
1Loss-
PIKFYVE-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITPNM1-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJVK-
-
-
-
1Loss-
PKD1L1-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKHD1p.W2631*
p.G919N
Nonsense
Missense
SNP
DNP
0.589
0.533
2--
PKHD1L1p.T691I
Missense
SNP
0.556
2--
PKIAp.R58*
Nonsense
SNP
0.421
2--
PKIB-
-
-
-
0Del-
PKLR-
-
-
-
3Gain-
PKN2-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PKP4-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G4A-
-
-
-
4Gain-
PLA2G4Dp.E277K
Missense
SNP
0.489
2--
PLA2G4F-
-
-
-
1Loss-
PLA2R1p.H329Y
Missense
SNP
0.262
1Loss-
PLAC8-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLAT-
-
-
-
1Loss-
PLCB1p.A10S
Missense
SNP
0.491
2--
PLCB3-
-
-
-
1Loss-
PLCB4p.E1167K
Missense
SNP
0.538
2--
PLCD1-
-
-
-
3Gain-
PLCD4-
-
-
-
1Loss-
PLCE1p.E88K
Missense
SNP
0.697
2--
PLCG2-
-
-
-
1Loss-
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLD2p.S734F
Missense
SNP
0.467
2--
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLECp.T3060I
Missense
SNP
0.494
2--
PLEK-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA3-
-
-
-
1Loss-
PLEKHA6p.D531N
Missense
SNP
0.613
3Gain-
PLEKHA7-
-
-
-
3Gain-
PLEKHA8p.L382F
Missense
SNP
0.359
1Loss-
PLEKHB2-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG4p.P765Q
Missense
DNP
1.000
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLET1-
-
-
-
0Del-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLN-
-
-
-
0Del-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLS1p.R399K
Missense
SNP
0.541
2--
PLSCR3-
-
-
-
1Loss-
PLSCR5p.T208I
Missense
SNP
0.474
2--
PLXNA2-
-
-
-
3Gain-
PLXNA4p.E1220K
Missense
SNP
0.514
3Gain-
PLXNB1-
-
-
-
3Gain-
PLXNB2p.P363S
Missense
SNP
0.533
2--
PM20D1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS1-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNISR-
-
-
-
0Del-
PNKD-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNO1-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNPT1-
-
-
-
1Loss-
POC1Ap.P335S
Missense
DNP
0.429
3Gain-
PODXL-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLB-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLE4-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLR1B-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2D-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
1Loss-
POMGNT2p.E531K
Missense
SNP
0.613
2--
POMK-
-
-
-
1Loss-
POMZP3-
-
-
-
3Gain-
POPDC3-
-
-
-
0Del-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEHp.T462I
Missense
SNP
0.122
NDND-
POU1F1-
-
-
-
3Gain-
POU2AF1-
-
-
-
0Del-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU3F3-
-
-
-
1Loss-
POU4F1-
-
-
-
3Gain-
POU4F2-
-
-
-
1Loss-
POU6F2-
-
-
-
1Loss-
PP2D1-
-
-
-
3Gain-
PPA2-
-
-
-
1Loss-
PPARG-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPDPFL-
-
-
-
1Loss-
PPEF2-
-
-
-
1Loss-
PPFIA1-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIG-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
3Gain-
PPM1Dp.P426L
Missense
SNP
0.422
2--
PPM1J-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1M-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
1Loss-
PPP1R12B-
-
-
-
3Gain-
PPP1R14B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R17-
-
-
-
1Loss-
PPP1R18-
-
-
-
3Gain-
PPP1R1C-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R3Ap.V205A
Missense
SNP
0.635
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R1B-
-
-
-
0Del-
PPP2R2A-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
1Loss-
PPP3CA-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R1-
-
-
-
1Loss-
PPP4R2-
-
-
-
3Gain-
PPP4R3B-
-
-
-
1Loss-
PPP6R3p.P66F
Missense
DNP
1.000
1Loss-
PQLC1-
-
-
-
1Loss-
PRADC1-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAMEF20p.E21K
Missense
SNP
0.407
2--
PRAP1-
-
-
-
0Del-
PRB3-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRCP-
-
-
-
1Loss-
PRDM1-
-
-
-
0Del-
PRDM10-
-
-
-
1Loss-
PRDM13-
-
-
-
0Del-
PRDM5-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
4Gain-
PRDX5-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREP-
-
-
-
0Del-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE2-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKAG2-
-
-
-
3Gain-
PRKAG3-
-
-
-
1Loss-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCD-
-
-
-
3Gain-
PRKD3p.P399S
Missense
SNP
0.318
2--
PRKDC-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKN-
-
-
-
1Loss-
PRKRA-
-
-
-
1Loss-
PRKRIP1-
-
-
-
3Gain-
PRLH-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT6-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PROC-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
3Gain-
PROKR1-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROM2-
-
-
-
1Loss-
PROS1-
-
-
-
3Gain-
PROSER1p.P435F
Missense
DNP
0.288
3Gain-
PROSER2p.S365F
Missense
DNP
0.580
2--
PROX1-
-
-
-
3Gain-
PRPF19-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38B-
-
-
-
1Loss-
PRPF40A-
-
-
-
1Loss-
PRPS1L1-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR15-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT3-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS2-
-
-
-
3Gain-
PRSS23-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS42-
-
-
-
3Gain-
PRSS45-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS50-
-
-
-
3Gain-
PRSS54-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRTFDC1p.T148I
Missense
SNP
0.536
2--
PRTG-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PSAPL1-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSD4-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSIP1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA1-
-
-
-
3Gain-
PSMA5-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMC6p.S225R
Missense
SNP
0.615
2--
PSMD1-
-
-
-
1Loss-
PSMD14-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
1Loss-
PSRC1-
-
-
-
1Loss-
PSTPIP1p.R103Q
Missense
DNP
0.419
2--
PTBP2-
-
-
-
1Loss-
PTGDR2-
-
-
-
1Loss-
PTGER3-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGFR-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
3Gain-
PTH2R-
-
-
-
1Loss-
PTK2B-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN18-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN23-
-
-
-
3Gain-
PTPN4-
-
-
-
1Loss-
PTPN5-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPRBp.E1677K
Missense
SNP
0.459
2--
PTPRC-
-
-
-
3Gain-
PTPRCAP-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
3Gain-
PTPRK-
-
-
-
0Del-
PTPRN-
-
-
-
1Loss-
PTPROp.G614E
Missense
SNP
0.457
2--
PTPRZ1-
-
-
-
3Gain-
PTS-
-
-
-
0Del-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS10-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PXDNp.E362K
Missense
SNP
0.398
2--
PXDNL-
-
-
-
1Loss-
PXK-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
QARSp.X40_splice
Splice_Site
SNP
0.571
3Gain-
QDPR-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
3Gain-
QRSL1-
-
-
-
0Del-
QSOX1-
-
-
-
3Gain-
R3HCC1-
-
-
-
1Loss-
R3HDM1-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP5-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB1A-
-
-
-
1Loss-
RAB1B-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB30-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
0Del-
RAB3Cp.G166R
Missense
SNP
0.475
2--
RAB3GAP1-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB3IL1-
-
-
-
1Loss-
RAB4A-
-
-
-
3Gain-
RAB5A-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABIF-
-
-
-
3Gain-
RABL2A-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAD1-
-
-
-
3Gain-
RAD18-
-
-
-
3Gain-
RAD54L2-
-
-
-
3Gain-
RAD9A-
-
-
-
1Loss-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAF1-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALA-
-
-
-
1Loss-
RALB-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RALYLp.K205N
Missense
SNP
0.466
2--
RAMACL-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP2-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1GAP2p.S599Y
Missense
SNP
0.492
2--
RAP1GDS1-
-
-
-
1Loss-
RAPGEF2-
-
-
-
1Loss-
RAPGEF4-
-
-
-
1Loss-
RAPGEF5-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARB-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RARRES3-
-
-
-
1Loss-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF1-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF6-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBBP4-
-
-
-
4Gain-
RBBP5-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM12Bp.S68F
Missense
SNP
0.494
2--
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
3Gain-
RBM26-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM4-
-
-
-
1Loss-
RBM43-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM45-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM4B-
-
-
-
1Loss-
RBM5-
-
-
-
3Gain-
RBM6-
-
-
-
3Gain-
RBM7-
-
-
-
0Del-
RBM8Ap.G61S
Missense
SNP
0.332
3Gain-
RBMS1-
-
-
-
1Loss-
RBMS3-
-
-
-
3Gain-
RBMXL1-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RBSN-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCE1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RDX-
-
-
-
0Del-
REELD1-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REG1A-
-
-
-
1Loss-
REG1B-
-
-
-
1Loss-
REG3A-
-
-
-
1Loss-
REG3G-
-
-
-
1Loss-
REL-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELNp.G3030E
Missense
SNP
0.415
3Gain-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RERGLp.K140M
Missense
SNP
0.503
2--
RESP18-
-
-
-
1Loss-
REST-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REV1-
-
-
-
1Loss-
REV3L-
-
-
-
0Del-
REXO2-
-
-
-
0Del-
RFC2-
-
-
-
3Gain-
RFPL4B-
-
-
-
0Del-
RFT1-
-
-
-
3Gain-
RFTN1-
-
-
-
3Gain-
RFTN2-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
0Del-
RFX7-
-
-
-
1Loss-
RFX8-
-
-
-
1Loss-
RGCC-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGMAp.P150L
Missense
SNP
0.497
2--
RGMB-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGPD3-
-
-
-
1Loss-
RGPD4-
-
-
-
1Loss-
RGPD5-
-
-
-
1Loss-
RGPD6-
-
-
-
1Loss-
RGPD8-
-
-
-
1Loss-
RGS1-
-
-
-
4Gain-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
4Gain-
RGS16-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS18-
-
-
-
4Gain-
RGS2-
-
-
-
4Gain-
RGS20-
-
-
-
1Loss-
RGS21-
-
-
-
4Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9p.A186T
Missense
SNP
0.526
2--
RGSL1-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHBDD2-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOA-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOD-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RICTORp.S718F
Missense
SNP
0.509
3Gain-
RIF1-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIN1-
-
-
-
1Loss-
RINT1-
-
-
-
3Gain-
RIPOR1-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNASE1p.Q56*
Nonsense
SNP
0.487
2--
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNASET2-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF146-
-
-
-
0Del-
RNF148-
-
-
-
3Gain-
RNF149-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF169-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF175-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF19B-
-
-
-
4Gain-
RNF2-
-
-
-
3Gain-
RNF212-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF217-
-
-
-
0Del-
RNF219-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223p.E67K
Missense
SNP
0.472
2--
RNF227-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF4-
-
-
-
1Loss-
RNF43p.P118L
Missense
SNP
0.477
2--
RNPC3-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
3Gain-
ROBO2-
-
-
-
3Gain-
ROBO3p.P1142T
Missense
DNP
0.985
1Loss-
ROBO4p.P997H
Missense
SNP
1.000
1Loss-
ROM1-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
0Del-
RP11-407P15.2p.G223S
Missense
SNP
0.453
NDND-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPE-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL15-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL29-
-
-
-
3Gain-
RPL31-
-
-
-
1Loss-
RPL32-
-
-
-
3Gain-
RPL34-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPP14-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPRM-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS13-
-
-
-
3Gain-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS27A-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPUSD3-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP9-
-
-
-
3Gain-
RSBN1-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSF1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
0Del-
RSPO3-
-
-
-
0Del-
RSPRY1-
-
-
-
1Loss-
RTCA-
-
-
-
1Loss-
RTKN-
-
-
-
1Loss-
RTL1p.E54K
Missense
SNP
0.500
2--
RTN1p.G602S
Missense
SNP
0.385
2--
RTN3-
-
-
-
1Loss-
RTN4-
-
-
-
1Loss-
RTN4IP1-
-
-
-
0Del-
RTN4RL2-
-
-
-
1Loss-
RTP3-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
3Gain-
RUFY3-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNDC1p.SQ355R*
Nonsense
DNP
0.404
2--
RUSC1-
-
-
-
3Gain-
RWDD1-
-
-
-
0Del-
RWDD3-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
3Gain-
RYR1p.X2482_splice
p.M3652V
Splice_Site
Missense
SNP
SNP
0.496
0.441
2--
RYR2p.G493E
p.G2166E
Missense
Missense
SNP
SNP
0.306
0.303
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
S100PBP-
-
-
-
4Gain-
S1PR1-
-
-
-
1Loss-
SAA1-
-
-
-
3Gain-
SAA2-
-
-
-
3Gain-
SAA2-SAA4-
-
-
-
3Gain-
SAA4-
-
-
-
3Gain-
SAAL1-
-
-
-
3Gain-
SAC3D1-
-
-
-
1Loss-
SACM1L-
-
-
-
3Gain-
SACSp.P4543S
Missense
SNP
0.989
2--
SAG-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4p.G280E
Missense
SNP
0.549
2--
SAMD13-
-
-
-
1Loss-
SAMD3-
-
-
-
0Del-
SAMD5-
-
-
-
1Loss-
SAMD9Lp.D1311N
Missense
SNP
0.601
2--
SAP130-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARS-
-
-
-
1Loss-
SART1-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
3Gain-
SATB2p.D609N
Missense
SNP
0.598
1Loss-
SAXO1-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAP-
-
-
-
3Gain-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCART1-
-
-
-
0Del-
SCCPDH-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
3Gain-
SCFD2-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCGB1A1-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCIN-
-
-
-
1Loss-
SCLT1-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCML4-
-
-
-
0Del-
SCN10A-
-
-
-
3Gain-
SCN11A-
-
-
-
3Gain-
SCN1A-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCN5A-
-
-
-
3Gain-
SCN7A-
-
-
-
1Loss-
SCN9A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRN1-
-
-
-
1Loss-
SCRN3-
-
-
-
1Loss-
SCTR-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHAF2-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
0Del-
SDK1p.A378V
p.P962F
Missense
Missense
DNP
DNP
0.368
0.188
3Gain-
SDR16C5p.G16E
Missense
SNP
0.336
2--
SDR42E1-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
3Gain-
SEC16Ap.P2224L
Missense
SNP
0.365
2--
SEC16B-
-
-
-
3Gain-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61G-
-
-
-
1Loss-
SEC63-
-
-
-
0Del-
SECISBP2p.S309F
Missense
SNP
0.406
2--
SECISBP2L-
-
-
-
1Loss-
SEL1Lp.Q73*
Nonsense
SNP
0.534
2--
SEL1L3p.D921N
Missense
SNP
0.953
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENOH-
-
-
-
1Loss-
SELENOK-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
3Gain-
SEMA3G-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4C-
-
-
-
1Loss-
SEMA4F-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP7p.P264L
Missense
SNP
0.544
2--
SEPSECS-
-
-
-
1Loss-
SEPT10-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
1Loss-
SEPT2-
-
-
-
1Loss-
SEPT7-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
3Gain-
SERINC1-
-
-
-
0Del-
SERINC4-
-
-
-
1Loss-
SERP2-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPINE1p.G39K
Missense
DNP
0.425
3Gain-
SERPINE2-
-
-
-
1Loss-
SERPINF1p.P45L
Missense
SNP
0.516
2--
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERTAD2-
-
-
-
1Loss-
SERTAD4-
-
-
-
3Gain-
SESN1-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SESTD1-
-
-
-
1Loss-
SETD2-
-
-
-
3Gain-
SETD5-
-
-
-
3Gain-
SETD6-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETMAR-
-
-
-
3Gain-
SF1-
-
-
-
1Loss-
SF3A1p.P147S
Missense
SNP
0.359
2--
SF3B1p.P465S
Missense
SNP
0.695
1Loss-
SF3B2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SFMBT1-
-
-
-
3Gain-
SFRP1-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
1Loss-
SFT2D1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFT2D3-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SFXN5-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGIP1-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGK223p.P1241S
Missense
SNP
0.310
NDND-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
3Gain-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
3Gain-
SH3BP5L-
-
-
-
3Gain-
SH3D19-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF3-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
3Gain-
SHISA6-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
3Gain-
SHROOM3-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIK2-
-
-
-
0Del-
SIK3-
-
-
-
1Loss-
SIKE1-
-
-
-
1Loss-
SIM1-
-
-
-
0Del-
SIPA1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3p.R82K
Missense
SNP
0.455
2--
SIRT2p.A176V
Missense
DNP
0.490
2--
SKA1-
-
-
-
1Loss-
SKAP2-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLAIN1-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC13A5p.G349D
Missense
SNP
0.986
1Loss-
SLC15A2p.E674K
Missense
SNP
0.521
2--
SLC15A3-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A3p.R477C
Missense
SNP
0.645
3Gain-
SLC1A4-
-
-
-
1Loss-
SLC20A1-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A13-
-
-
-
3Gain-
SLC22A14-
-
-
-
3Gain-
SLC22A15-
-
-
-
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A3p.E410K
Missense
SNP
0.483
2--
SLC24A5-
-
-
-
1Loss-
SLC25A12-
-
-
-
1Loss-
SLC25A15-
-
-
-
3Gain-
SLC25A20-
-
-
-
3Gain-
SLC25A24-
-
-
-
1Loss-
SLC25A26-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A31-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A45-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC27A4p.P438L
Missense
SNP
0.427
2--
SLC28A2-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC2A12-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC30A6p.L309F
Missense
SNP
0.403
2--
SLC30A7-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35A3-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35D1-
-
-
-
1Loss-
SLC35D3-
-
-
-
1Loss-
SLC35F2-
-
-
-
0Del-
SLC35F3-
-
-
-
3Gain-
SLC35F5-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A11-
-
-
-
1Loss-
SLC38A3p.G125S
Missense
SNP
0.629
3Gain-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A10-
-
-
-
1Loss-
SLC39A13p.S71F
Missense
SNP
0.441
2--
SLC39A14-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC40A1-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC43A1-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A3-
-
-
-
1Loss-
SLC44A4p.X587_splice
Splice_Site
SNP
0.435
2--
SLC44A5p.M490I
Missense
SNP
1.000
1Loss-
SLC45A2-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A10p.L374F
Missense
SNP
0.654
1Loss-
SLC4A11p.S271F
Missense
SNP
0.474
2--
SLC4A2-
-
-
-
3Gain-
SLC4A3-
-
-
-
1Loss-
SLC4A4-
-
-
-
1Loss-
SLC4A5-
-
-
-
1Loss-
SLC4A7-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC5A10-
-
-
-
1Loss-
SLC5A12-
-
-
-
3Gain-
SLC5A6p.W469*
Nonsense
SNP
0.616
2--
SLC5A7-
-
-
-
1Loss-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A17-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A20-
-
-
-
3Gain-
SLC6A6-
-
-
-
3Gain-
SLC6A9p.T639I
Missense
SNP
0.562
2--
SLC7A11-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC9A2-
-
-
-
1Loss-
SLC9A4-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C2-
-
-
-
3Gain-
SLCO1A2p.E273K
Missense
SNP
0.487
2--
SLCO2B1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
3Gain-
SLCO6A1-
-
-
-
3Gain-
SLIT2-
-
-
-
1Loss-
SLITRK1p.A492V
p.P262L
Missense
Missense
SNP
SNP
0.345
0.627
4Gain-
SLITRK5-
-
-
-
4Gain-
SLITRK6-
-
-
-
4Gain-
SLMAP-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCC1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMCHD1p.V1199I
Missense
DNP
0.345
2--
SMCO4-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM4-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMLR1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMPDL3A-
-
-
-
0Del-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTNL1-
-
-
-
1Loss-
SMYD1-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SMYD5-
-
-
-
1Loss-
SNAI2-
-
-
-
1Loss-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNED1-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNORC-
-
-
-
1Loss-
SNRNP200-
-
-
-
1Loss-
SNRNP27-
-
-
-
1Loss-
SNRPBp.P224S
Missense
SNP
0.480
2--
SNRPE-
-
-
-
3Gain-
SNRPG-
-
-
-
1Loss-
SNTB2-
-
-
-
1Loss-
SNTG1-
-
-
-
1Loss-
SNTN-
-
-
-
3Gain-
SNX10-
-
-
-
1Loss-
SNX13-
-
-
-
1Loss-
SNX15-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX3-
-
-
-
0Del-
SNX32-
-
-
-
1Loss-
SNX7-
-
-
-
1Loss-
SNX8p.R226W
Missense
DNP
0.325
3Gain-
SNX9-
-
-
-
1Loss-
SOAT1-
-
-
-
3Gain-
SOBP-
-
-
-
0Del-
SOCS6-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOGA3-
-
-
-
0Del-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOSTDC1-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOWAHC-
-
-
-
1Loss-
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX17p.G301S
Missense
SNP
0.377
2--
SOX6-
-
-
-
3Gain-
SOX7-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110p.L611F
Missense
SNP
0.349
1Loss-
SP140p.D838N
Missense
SNP
0.351
1Loss-
SP140Lp.P301S
Missense
SNP
0.448
1Loss-
SP3-
-
-
-
1Loss-
SP4-
-
-
-
1Loss-
SP5-
-
-
-
1Loss-
SP7p.G173S
Missense
SNP
0.591
2--
SP8-
-
-
-
1Loss-
SP9-
-
-
-
1Loss-
SPA17-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG17-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPANXN1p.M43I
Missense
SNP
1.000
NDND-
SPANXN3p.G120E
Missense
SNP
1.000
NDND-
SPARCL1-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA12-
-
-
-
3Gain-
SPATA16p.Q480*
Nonsense
SNP
0.498
2--
SPATA17-
-
-
-
3Gain-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA21p.G154E
Missense
SNP
0.463
2--
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA31E1p.S678Y
p.R741L
Missense
Missense
SNP
SNP
0.493
0.440
2--
SPATA33-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
1Loss-
SPATA5-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATS2L-
-
-
-
1Loss-
SPC25-
-
-
-
1Loss-
SPCS1-
-
-
-
3Gain-
SPCS2-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDL1p.E79D
Missense
SNP
1.000
2--
SPDYC-
-
-
-
1Loss-
SPDYE1p.W28*
Nonsense
SNP
0.378
NDND-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEF2-
-
-
-
3Gain-
SPEGp.E1388K
Missense
SNP
0.368
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPERT-
-
-
-
3Gain-
SPG11-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHKAP-
-
-
-
1Loss-
SPIDR-
-
-
-
1Loss-
SPINDOC-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINK8-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPOPL-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPR-
-
-
-
1Loss-
SPRED2-
-
-
-
1Loss-
SPRN-
-
-
-
0Del-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPRY2-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTBN1-
-
-
-
1Loss-
SPTBN2-
-
-
-
1Loss-
SPTY2D1-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP3-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRRM3-
-
-
-
3Gain-
SRSF11-
-
-
-
1Loss-
SRSF8-
-
-
-
1Loss-
SSB-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSH3-
-
-
-
1Loss-
SSMEM1p.K177R
Missense
SNP
0.394
3Gain-
SSPO-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
3Gain-
SSX2IP-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST6GAL2-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7p.L338F
Missense
DNP
0.411
3Gain-
ST7L-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4p.H315Y
p.R137C
Missense
Missense
SNP
SNP
0.615
0.663
3Gain-
STAB1-
-
-
-
3Gain-
STAC-
-
-
-
3Gain-
STAM2-
-
-
-
1Loss-
STAMBP-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD3NL-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAT1-
-
-
-
1Loss-
STAT4-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STEAP1B-
-
-
-
1Loss-
STEAP3-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIMATE-
-
-
-
3Gain-
STIP1-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17B-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK31p.R728Q
Missense
SNP
0.627
1Loss-
STK32B-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STK39-
-
-
-
1Loss-
STKLD1p.R271K
Missense
SNP
0.457
2--
STMN4p.R201E
Missense
DNP
0.292
1Loss-
STMP1-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STOX2-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STRA8p.E130K
Missense
SNP
0.373
3Gain-
STRADB-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRIP1-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STT3A-
-
-
-
1Loss-
STT3Bp.E642K
Missense
SNP
0.477
3Gain-
STUM-
-
-
-
3Gain-
STX11-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP3-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLA2-
-
-
-
3Gain-
SUCLG2-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1C2-
-
-
-
1Loss-
SULT1C3-
-
-
-
1Loss-
SULT1C4-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SUMF1-
-
-
-
3Gain-
SUMF2-
-
-
-
1Loss-
SUMO1-
-
-
-
1Loss-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
1Loss-
SUN5p.P100L
Missense
SNP
0.481
2--
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2Bp.G157E
Missense
SNP
0.497
2--
SVIP-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYCE1-
-
-
-
0Del-
SYCE1L-
-
-
-
1Loss-
SYCP1-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYN2-
-
-
-
3Gain-
SYNC-
-
-
-
4Gain-
SYNE1-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYPL2-
-
-
-
1Loss-
SYT1p.R400Q
Missense
SNP
0.476
2--
SYT11-
-
-
-
3Gain-
SYT12-
-
-
-
1Loss-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT2-
-
-
-
3Gain-
SYT4p.E130K
Missense
SNP
0.530
2--
SYT6-
-
-
-
1Loss-
SYT7-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
SZT2p.W3222*
Nonsense
SNP
0.559
2--
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACR1-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
3Gain-
TAF13-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF1Lp.E705K
Missense
SNP
0.479
2--
TAF5L-
-
-
-
3Gain-
TAF6L-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TALDO1p.P100L
Missense
DNP
0.467
2--
TAMM41-
-
-
-
3Gain-
TANC1-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TANK-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16p.P217L
Missense
SNP
0.611
3Gain-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38p.D43N
Missense
SNP
0.375
2--
TAS2R39-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TATDN2-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D15p.M552L
Missense
SNP
0.561
2--
TBC1D19-
-
-
-
1Loss-
TBC1D22A-
-
-
-
2-TBC1D22A--FMN2
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D32-
-
-
-
0Del-
TBC1D4-
-
-
-
3Gain-
TBC1D5-
-
-
-
3Gain-
TBC1D8p.S598F
Missense
DNP
0.581
1Loss-
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBCK-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBR1-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBX15-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX20-
-
-
-
1Loss-
TBXT-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
1Loss-
TCEAL5p.M44I
Missense
SNP
1.000
NDND-
TCEB3Bp.N633I
Missense
SNP
0.521
NDND-
TCF12-
-
-
-
1Loss-
TCF21-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCTA-
-
-
-
3Gain-
TCTE3-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTN3p.S497F
Missense
SNP
0.333
2--
TDGF1-
-
-
-
3Gain-
TDO2-
-
-
-
1Loss-
TDP1p.P260S
Missense
SNP
0.528
2--
TDRD10-
-
-
-
3Gain-
TDRD5p.D369N
Missense
SNP
0.294
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TECRLp.Q107*
Nonsense
SNP
1.000
1Loss-
TECTA-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEKT4-
-
-
-
1Loss-
TENM2p.G58E
Missense
SNP
0.995
2--
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TESMIN-
-
-
-
1Loss-
TET1p.R1875K
Missense
SNP
0.361
2--
TET2-
-
-
-
1Loss-
TET3-
-
-
-
1Loss-
TEX11p.D285Y
Missense
SNP
0.900
NDND-
TEX12-
-
-
-
0Del-
TEX13Cp.M421I
Missense
SNP
1.000
NDND-
TEX15-
-
-
-
1Loss-
TEX261-
-
-
-
1Loss-
TEX264-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX37-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TEX51-
-
-
-
1Loss-
TEX9-
-
-
-
1Loss-
TFAP2Bp.H2P
Missense
SNP
0.292
2--
TFB1M-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFCP2L1p.Q348*
Nonsense
SNP
0.593
1Loss-
TFEC-
-
-
-
3Gain-
TFPI-
-
-
-
1Loss-
TFR2p.R469K
Missense
SNP
0.403
2--
TGFA-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFBR2-
-
-
-
3Gain-
TGFBR3-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
1Loss-
TGM5p.P688L
Missense
SNP
1.000
1Loss-
TGM7-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEGLp.X165_splice
Splice_Site
SNP
1.000
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS-
-
-
-
0Del-
THNSL2-
-
-
-
1Loss-
THOC7-
-
-
-
3Gain-
THRB-
-
-
-
3Gain-
THRSP-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THSD7Bp.S614F
Missense
SNP
0.393
1Loss-
THUMPD3-
-
-
-
3Gain-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIA1-
-
-
-
1Loss-
TIAM1p.R1452Q
p.H847Y
Missense
Missense
SNP
SNP
0.498
0.485
2--
TIAM2-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM8B-
-
-
-
0Del-
TIMMDC1p.I266F
Missense
SNP
0.509
2--
TIMP4-
-
-
-
3Gain-
TINAGp.G439R
Missense
SNP
0.619
2--
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TKT-
-
-
-
3Gain-
TKTL2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLK1-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLR9-
-
-
-
3Gain-
TLX2-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM4SF20-
-
-
-
1Loss-
TM6SF2p.A351S
Missense
SNP
0.488
2--
TM7SF2-
-
-
-
1Loss-
TMA16-
-
-
-
1Loss-
TMA7-
-
-
-
3Gain-
TMBIM1-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMED5-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEFF2-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
3Gain-
TMEM115-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM127-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM131-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM132Cp.E560K
Missense
SNP
0.513
2--
TMEM132Dp.E556K
Missense
SNP
0.625
2--
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM144-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM163-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM169-
-
-
-
1Loss-
TMEM17-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM177-
-
-
-
1Loss-
TMEM179B-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM182-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184C-
-
-
-
1Loss-
TMEM185B-
-
-
-
1Loss-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
1Loss-
TMEM198-
-
-
-
1Loss-
TMEM200A-
-
-
-
0Del-
TMEM206-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
0Del-
TMEM248-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM37-
-
-
-
1Loss-
TMEM40-
-
-
-
3Gain-
TMEM43-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM54-
-
-
-
4Gain-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM82p.R284H
Missense
SNP
0.412
2--
TMEM86A-
-
-
-
3Gain-
TMEM87A-
-
-
-
1Loss-
TMEM87B-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMF1-
-
-
-
3Gain-
TMIE-
-
-
-
3Gain-
TMIGD3-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
3Gain-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
0Del-
TMUB1-
-
-
-
3Gain-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNCp.G2068R
Missense
SNP
0.471
2--
TNFAIP3-
-
-
-
1Loss-
TNFAIP6-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFSF11-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNKS1BP1-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC1-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNI3K-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNP1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRp.E455K
Missense
SNP
0.632
3Gain-
TNS1-
-
-
-
1Loss-
TNXBp.I3251L
Missense
SNP
0.618
2--
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM7-
-
-
-
1Loss-
TOP2B-
-
-
-
3Gain-
TOP3A-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53BP1-
-
-
-
1Loss-
TP53BP2p.L339H
Missense
SNP
0.721
3Gain-
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPD52L1-
-
-
-
0Del-
TPD52L3-
-
-
-
1Loss-
TPH1-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRKB-
-
-
-
1Loss-
TPRX1p.W334C
Missense
SNP
0.418
2--
TPST1-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TRA2A-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
0Del-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAIP-
-
-
-
3Gain-
TRAK2-
-
-
-
1Loss-
TRAM1-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRANK1-
-
-
-
3Gain-
TRAPPC1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
0Del-
TRAPPC4-
-
-
-
1Loss-
TRAV12-1p.R22Q
Missense
SNP
0.532
NDND-
TRDN-
-
-
-
0Del-
TREH-
-
-
-
1Loss-
TREX1-
-
-
-
3Gain-
TRGC2p.S9F
Missense
SNP
0.711
NDND-
TRHRp.M280T
Missense
SNP
0.474
2--
TRIL-
-
-
-
1Loss-
TRIM11-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM2-
-
-
-
1Loss-
TRIM27p.S192F
Missense
DNP
0.457
2--
TRIM29-
-
-
-
1Loss-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM45-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49Bp.W343*
Nonsense
SNP
0.543
2--
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM56-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM62-
-
-
-
4Gain-
TRIM64B-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
1Loss-
TRIM71-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM75P-
-
-
-
1Loss-
TRIM77p.D346N
Missense
SNP
1.000
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIP12-
-
-
-
1Loss-
TRMT10A-
-
-
-
1Loss-
TRMT11-
-
-
-
0Del-
TRMT112-
-
-
-
1Loss-
TRMT13-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT2Ap.A451S
Missense
SNP
0.255
2--
TRMT44-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRNT1-
-
-
-
3Gain-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
1Loss-
TRPC3-
-
-
-
1Loss-
TRPC7p.N70T
Missense
SNP
0.999
2--
TRPM7-
-
-
-
1Loss-
TRPM8-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6p.R532Q
Missense
SNP
0.338
3Gain-
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSEN34p.P180S
Missense
SNP
0.407
2--
TSG101-
-
-
-
3Gain-
TSGA10-
-
-
-
1Loss-
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHB-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2p.E471K
Missense
SNP
0.503
2--
TSHZ3p.A908T
Missense
DNP
0.449
2--
TSKU-
-
-
-
1Loss-
TSN-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
1Loss-
TSPAN2-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN5-
-
-
-
1Loss-
TSPO2p.S146L
Missense
SNP
0.488
2--
TSPYL1-
-
-
-
0Del-
TSPYL4-
-
-
-
0Del-
TSPYL6-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TSTD3-
-
-
-
0Del-
TTBK2-
-
-
-
1Loss-
TTC12-
-
-
-
0Del-
TTC13-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC29-
-
-
-
1Loss-
TTC30A-
-
-
-
1Loss-
TTC30B-
-
-
-
1Loss-
TTC31-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC9C-
-
-
-
1Loss-
TTF2-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTL-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL3-
-
-
-
3Gain-
TTLL4p.P127S
Missense
SNP
0.330
1Loss-
TTLL7-
-
-
-
1Loss-
TTNp.S28038L
p.E26356K
p.E24050K
p.R22855K
p.D21548N
p.X7414_splice
p.P7367S
p.R6703Q
p.D6395N
Missense
Missense
Missense
Missense
Missense
Splice_Site
Missense
Missense
Missense
SNP
SNP
SNP
DNP
SNP
SNP
SNP
SNP
SNP
0.377
0.286
0.655
0.421
0.338
0.561
0.670
0.678
0.346
1Loss-
TTYH3-
-
-
-
3Gain-
TUBA3Dp.D39N
Missense
SNP
0.600
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBB-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBE1-
-
-
-
0Del-
TUBGCP2-
-
-
-
0Del-
TUBGCP4-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP4-
-
-
-
1Loss-
TUSC2-
-
-
-
3Gain-
TUSC3-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
3Gain-
TWIST1-
-
-
-
1Loss-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC9-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TYR-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2SURPp.P308L
p.G321S
Missense
Missense
SNP
SNP
0.511
0.509
2--
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
3Gain-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
3Gain-
UBAP2p.R650*
Nonsense
SNP
0.451
2--
UBAP2L-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2E1-
-
-
-
3Gain-
UBE2E2-
-
-
-
3Gain-
UBE2E3-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2L6-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2V2-
-
-
-
1Loss-
UBE3C-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBL4B-
-
-
-
1Loss-
UBP1-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR3-
-
-
-
1Loss-
UBR4p.D4650N
Missense
SNP
0.500
2--
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN4-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCHL3-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCN2-
-
-
-
3Gain-
UEVLD-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFL1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGGT1p.A841V
Missense
SNP
0.657
1Loss-
UGP2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UGT8-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK2p.S506F
Missense
SNP
0.409
1Loss-
UMAD1-
-
-
-
3Gain-
UNC13C-
-
-
-
1Loss-
UNC50-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC80p.E3186K
Missense
SNP
0.350
1Loss-
UNC93A-
-
-
-
1Loss-
UNC93B1-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UPF2p.R668C
Missense
SNP
0.506
2--
UPK2-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
1Loss-
UPP2-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCRC1-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
USB1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH1Cp.E735K
Missense
SNP
0.663
3Gain-
USH2Ap.E2613V
Missense
SNP
0.660
3Gain-
USO1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP18p.E108*
Nonsense
SNP
0.384
2--
USP19-
-
-
-
3Gain-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP28-
-
-
-
0Del-
USP33-
-
-
-
1Loss-
USP34-
-
-
-
1Loss-
USP35-
-
-
-
1Loss-
USP37-
-
-
-
1Loss-
USP4-
-
-
-
3Gain-
USP40-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP45-
-
-
-
0Del-
USP46-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6p.P1259F
Missense
DNP
0.374
2--
USP8-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTRN-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
UXS1-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL1-
-
-
-
1Loss-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VAT1L-
-
-
-
1Loss-
VAV3-
-
-
-
1Loss-
VAX2-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VGLL2-
-
-
-
0Del-
VGLL3-
-
-
-
3Gain-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
3Gain-
VIP-
-
-
-
1Loss-
VIPR1p.E398K
Missense
SNP
0.577
2--
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VOPP1-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13Dp.H1369Y
p.K3366I
Missense
Missense
SNP
SNP
0.492
0.515
2--
VPS26B-
-
-
-
1Loss-
VPS33Bp.L301M
Missense
DNP
0.404
2--
VPS35-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS51-
-
-
-
1Loss-
VPS54-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VRK2-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM1p.S30F
Missense
SNP
0.488
2--
VSTM2A-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTCN1-
-
-
-
1Loss-
VWA3B-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA8-
-
-
-
3Gain-
VWA9p.X272_splice
Splice_Site
SNP
0.444
NDND-
VWC2-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWCE-
-
-
-
1Loss-
VWDEp.L206F
Missense
SNP
0.649
1Loss-
WARS2-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP1-
-
-
-
1Loss-
WBP4-
-
-
-
3Gain-
WDFY1-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4p.P1066L
Missense
SNP
0.299
1Loss-
WDPCP-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR26p.Q569*
Nonsense
DNP
0.733
3Gain-
WDR27-
-
-
-
1Loss-
WDR3-
-
-
-
1Loss-
WDR33-
-
-
-
1Loss-
WDR47-
-
-
-
1Loss-
WDR54-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR6-
-
-
-
3Gain-
WDR63-
-
-
-
1Loss-
WDR64-
-
-
-
3Gain-
WDR66p.X831_splice
Splice_Site
DNP
0.481
2--
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR75-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR82-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WDR92-
-
-
-
1Loss-
WDSUB1-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WIPF1-
-
-
-
1Loss-
WIPF3-
-
-
-
1Loss-
WISP3-
-
-
-
0Del-
WLS-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2p.G288S
Missense
DNP
0.567
3Gain-
WNT2B-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT5A-
-
-
-
3Gain-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WRNIP1p.X339_splice
Splice_Site
SNP
0.490
2--
WSCD1-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XAGE3p.T8I
Missense
SNP
0.990
NDND-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
3Gain-
XIRP2p.E2400K
Missense
SNP
0.367
1Loss-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9-
-
-
-
1Loss-
XPC-
-
-
-
3Gain-
XPO1-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC5-
-
-
-
1Loss-
XRN1p.G1128E
Missense
SNP
0.535
2--
XRRA1-
-
-
-
1Loss-
XYLB-
-
-
-
3Gain-
YAE1-
-
-
-
1Loss-
YAP1-
-
-
-
1Loss-
YARS-
-
-
-
4Gain-
YBX2-
-
-
-
1Loss-
YIF1A-
-
-
-
1Loss-
YLPM1p.S242F
Missense
SNP
0.497
2--
YOD1-
-
-
-
3Gain-
YPEL4-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z84488.2-
-
-
-
0Del-
Z84492.1-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZANp.L2372F
Missense
DNP
0.413
2--
ZAP70-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBTB16-
-
-
-
0Del-
ZBTB18-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB24-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB41-
-
-
-
3Gain-
ZBTB44-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB8A-
-
-
-
4Gain-
ZBTB8B-
-
-
-
4Gain-
ZBTB8OS-
-
-
-
4Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
0Del-
ZC3H12D-
-
-
-
1Loss-
ZC3H13-
-
-
-
3Gain-
ZC3H15-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H6-
-
-
-
1Loss-
ZC3H8-
-
-
-
1Loss-
ZC3HC1-
-
-
-
3Gain-
ZCCHC14-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZCWPW2-
-
-
-
3Gain-
ZDBF2-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC13-
-
-
-
3Gain-
ZDHHC14-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC24-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZEB2-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND2B-
-
-
-
1Loss-
ZFAND4-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFYVE1p.K346R
Missense
SNP
0.523
2--
ZFYVE28-
-
-
-
1Loss-
ZGRF1-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMYM2p.P1188L
Missense
SNP
1.000
2--
ZMYND10-
-
-
-
3Gain-
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF136p.H55Y
p.L71F
Missense
Missense
SNP
SNP
0.362
0.594
2--
ZNF138-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF2-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF214p.H352Y
Missense
SNP
0.377
2--
ZNF22-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250p.D34N
Missense
SNP
0.532
2--
ZNF273-
-
-
-
3Gain-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280D-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF329p.P111S
Missense
SNP
0.439
2--
ZNF334p.R592Q
Missense
SNP
0.507
2--
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF354Bp.P577Y
Missense
DNP
1.000
2--
ZNF362-
-
-
-
4Gain-
ZNF37A-
-
-
-
1Loss-
ZNF385Bp.P208S
Missense
SNP
0.569
1Loss-
ZNF385Dp.F36L
Missense
SNP
0.588
3Gain-
ZNF395-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF408p.G39D
Missense
SNP
0.465
2--
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF442p.H566Y
Missense
SNP
0.454
2--
ZNF462p.S974F
Missense
DNP
0.476
2--
ZNF467-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
1Loss-
ZNF483p.E89V
Missense
DNP
0.463
2--
ZNF485-
-
-
-
1Loss-
ZNF486p.H456Y
Missense
SNP
0.494
2--
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF496p.L198F
Missense
SNP
0.682
3Gain-
ZNF511-
-
-
-
0Del-
ZNF511-PRAP1-
-
-
-
0Del-
ZNF514-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF560p.R396Q
Missense
SNP
0.413
2--
ZNF585Ap.S731F
Missense
SNP
0.446
2--
ZNF589-
-
-
-
3Gain-
ZNF592p.D702N
Missense
SNP
0.463
2--
ZNF593p.R81*
Nonsense
DNP
0.437
2--
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF622-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF638-
-
-
-
1Loss-
ZNF644-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF654-
-
-
-
3Gain-
ZNF667p.H194Y
Missense
SNP
0.500
2--
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF713-
-
-
-
1Loss-
ZNF716-
-
-
-
1Loss-
ZNF717-
-
-
-
3Gain-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF732-
-
-
-
1Loss-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF766p.P382F
Missense
DNP
0.476
2--
ZNF770p.S445L
p.S434L
Missense
Missense
SNP
SNP
0.333
0.395
2--
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF780Bp.H709Y
Missense
SNP
0.500
2--
ZNF783p.R359C
Missense
DNP
0.622
3Gain-
ZNF786p.P307S
Missense
SNP
0.605
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804A-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF827-
-
-
-
1Loss-
ZNF831p.T342I
Missense
DNP
0.406
2--
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNHIT2-
-
-
-
1Loss-
ZNHIT6-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
1Loss-
ZP1-
-
-
-
1Loss-
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
1Loss-
ZPLD1p.G393R
Missense
SNP
0.532
2--
ZPR1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZRANB3-
-
-
-
1Loss-
ZSCAN20-
-
-
-
4Gain-
ZSCAN29-
-
-
-
1Loss-
ZSWIM2p.R603Q
Missense
SNP
0.605
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZUP1-
-
-
-
0Del-
ZW10-
-
-
-
0Del-
ZYX-
-
-
-
3Gain-