PDMR-616732~234-R3~H9HE03-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GALT-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABR-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007326.4-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC022384.1-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC134980.3-
-
-
-
6Amp-
AC135068.1-
-
-
-
6Amp-
AC135068.3-
-
-
-
6Amp-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
1Loss-
AC243547.3-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACO1-
-
-
-
3Gain-
ACO2-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT8-
-
-
-
5Amp-
ACOX2-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACR-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN1-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADA2-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS16p.R1009W
Missense
SNP
0.516
2--
ADAMTS17-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS5-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADARB1-
-
-
-
1Loss-
ADARB2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK1p.P249R
Missense
SNP
1.000
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADD3-
-
-
-
0Del-
ADGRB1-
-
-
-
3Gain-
ADGRE1-
-
-
-
1Loss-
ADGRF3-
-
-
-
1Loss-
ADIPOR1-
-
-
-
3Gain-
ADM2-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPAT3-
-
-
-
1Loss-
AHSA1-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIFM3-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AK3-
-
-
-
3Gain-
AKAP11-
-
-
-
3Gain-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL133410.3-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
1Loss-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162377.3-
-
-
-
1Loss-
AL353597.1-
-
-
-
NDNDCMTR1--AL353597.1
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
3Gain-
ALDH6A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALKBH1-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5AP-
-
-
-
3Gain-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALX1-
-
-
-
1Loss-
AMER2-
-
-
-
3Gain-
AMH-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD16-
-
-
-
6Amp-
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
3Gain-
ANKRD20A2-
-
-
-
3Gain-
ANKRD24-
-
-
-
1Loss-
ANKRD34A-
-
-
-
1Loss-
ANKRD35-
-
-
-
1Loss-
ANKRD54-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1G1p.P588L
Missense
SNP
0.430
2--
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4E1-
-
-
-
3Gain-
APBA3-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APP-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
ARC-
-
-
-
3Gain-
AREL1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARFGAP3-
-
-
-
1Loss-
ARFGEF2-
-
-
-
4Gain-
ARG2-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF18-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF25p.T601A
Missense
SNP
0.468
2--
ARHGEF3-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARHGEF5-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
3Gain-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARL8A-
-
-
-
3Gain-
ARMC3-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
3Gain-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB13-
-
-
-
6Amp-
ASB14-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ASXL2-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATG4D-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP12A-
-
-
-
3Gain-
ATP13A1-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2B4-
-
-
-
3Gain-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AVPR1B-
-
-
-
0Del-
AXDND1-
-
-
-
3Gain-
AXIN2p.K526N
Missense
SNP
0.481
2--
AZU1-
-
-
-
1Loss-
B3GALT5-
-
-
-
1Loss-
B3GLCT-
-
-
-
3Gain-
B3GNT3-
-
-
-
1Loss-
B4GALT1-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT5-
-
-
-
4Gain-
B4GALT6-
-
-
-
3Gain-
BABAM1-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAG1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BBOF1-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
3Gain-
BCL2L13-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCR-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLM-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMI1-
-
-
-
1Loss-
BMPR2p.A193G
Missense
SNP
0.389
2--
BNC2-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
3Gain-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPNT1-
-
-
-
3Gain-
BRCA2-
-
-
-
3Gain-
BRD1-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTG3-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf41-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QL3-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C3-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4A-
-
-
-
0Del-
C4B-
-
-
-
0Del-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CAB39L-
-
-
-
3Gain-
CABIN1-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA1I-
-
-
-
1Loss-
CACNA1S-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
1Loss-
CALML3-
-
-
-
6Amp-
CALML5-
-
-
-
6Amp-
CALR3-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAMSAP3-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARM1p.R208W
Missense
SNP
0.368
1Loss-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASC4p.K261N
Missense
SNP
0.271
2--
CASQ1-
-
-
-
3Gain-
CATSPERD-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
3Gain-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC107-
-
-
-
3Gain-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
3Gain-
CCDC124-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC167-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC171-
-
-
-
3Gain-
CCDC172p.R22H
Missense
SNP
1.000
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC188-
-
-
-
1Loss-
CCDC190-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCIN-
-
-
-
3Gain-
CCK-
-
-
-
1Loss-
CCL19-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCL27-
-
-
-
3Gain-
CCNJ-
-
-
-
1Loss-
CCPG1-
-
-
-
3Gain-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT8-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CD160-
-
-
-
1Loss-
CD163p.R278T
Missense
SNP
0.506
2--
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD274-
-
-
-
3Gain-
CD320-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD40-
-
-
-
5Amp-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CDADC1-
-
-
-
3Gain-
CDC123-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42EP1-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC45-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
5Amp-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDK18-
-
-
-
3Gain-
CDK8-
-
-
-
3Gain-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2B-
-
-
-
3Gain-
CDKN2D-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDPF1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
CEBPB-
-
-
-
4Gain-
CECR2-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPJ-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP152-
-
-
-
3Gain-
CEP290-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CER1-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERS1p.A86V
Missense
SNP
0.452
1Loss-
CERS2-
-
-
-
3Gain-
CERS4-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP298-
-
-
-
1Loss-
CFAP410-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CHADL-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHMP5-
-
-
-
3Gain-
CHODL-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRND-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHSY3-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN5-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLTA-
-
-
-
3Gain-
CLTCL1-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMTR1-
-
-
-
2-CMTR1--AL353597.1
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COG3-
-
-
-
3Gain-
COG6-
-
-
-
5Amp-
COL18A1-
-
-
-
1Loss-
COL22A1-
-
-
-
3Gain-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL5A3-
-
-
-
1Loss-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD6-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPE-
-
-
-
1Loss-
COPS2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPB2-
-
-
-
3Gain-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPNE1p.V145A
Missense
SNP
0.467
2--
CPNE9-
-
-
-
1Loss-
CPSF1-
-
-
-
3Gain-
CPT1B-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRB3-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTC1-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
1Loss-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYL1-
-
-
-
3Gain-
CRYZL1-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSE1L-
-
-
-
4Gain-
CSF2RB-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSTB-
-
-
-
1Loss-
CTAGE4-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTSA-
-
-
-
5Amp-
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTXN1-
-
-
-
1Loss-
CTXN2-
-
-
-
3Gain-
CUBN-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R3-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
3Gain-
CYTH4-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBNDD2-
-
-
-
5Amp-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
3Gain-
DCAF12-
-
-
-
3Gain-
DCAF4-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCC-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCP1A-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTN3-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX27-
-
-
-
4Gain-
DDX49-
-
-
-
1Loss-
DDX58-
-
-
-
3Gain-
DDX59-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND1C-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DERL1-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKH-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIP2A-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3L2-
-
-
-
1LossDIS3L2--GIGYF2
DISP1-
-
-
-
3Gain-
DLEU7-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DMAC1-
-
-
-
3Gain-
DMC1-
-
-
-
1Loss-
DMGDHp.R27C
Missense
SNP
0.535
2--
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
3Gain-
DMXL2-
-
-
-
3Gain-
DNA2-
-
-
-
1Loss-
DNAAF4-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH8p.R434C
Missense
SNP
0.500
2--
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJB5-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJC1-
-
-
-
1Loss-
DNAJC12-
-
-
-
1Loss-
DNAJC15-
-
-
-
3Gain-
DNAJC28-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMT1-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DNMT3L-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
5Amp-
DOC2B-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DRC3-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSCAM-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTWD1-
-
-
-
3Gain-
DUS3L-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP6-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUT-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECEL1-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECSIT-
-
-
-
1Loss-
EDC3-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDNRB-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFR3B-
-
-
-
1Loss-
EID1-
-
-
-
3Gain-
EIF2B2-
-
-
-
1Loss-
EIF2D-
-
-
-
3Gain-
EIF2S1-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
3Gain-
ELAVL3-
-
-
-
1Loss-
ELF1-
-
-
-
3Gain-
ELF3-
-
-
-
3Gain-
ELFN2-
-
-
-
1Loss-
ELK4-
-
-
-
3Gain-
ELL-
-
-
-
1Loss-
ELMO2-
-
-
-
5Amp-
ELMSAN1-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
ENHO-
-
-
-
3Gain-
ENKUR-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOX1-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPPIN-
-
-
-
5Amp-
EPPIN-WFDC6-
-
-
-
5Amp-
EPPK1-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPSTI1-
-
-
-
3Gain-
EQTN-
-
-
-
3Gain-
ERC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERICH6B-
-
-
-
3Gain-
ERMP1-
-
-
-
3Gain-
ESD-
-
-
-
3Gain-
ESRRB-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESS2-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETS2-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVA1C-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXOSC3-
-
-
-
3Gain-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EYA2-
-
-
-
5Amp-
F10-
-
-
-
1Loss-
F11-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2RL3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM118A-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM129C-
-
-
-
1Loss-
FAM135B-
-
-
-
3Gain-
FAM149A-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM166B-
-
-
-
3Gain-
FAM169B-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM207A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
6Amp-
FAM20B-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
3Gain-
FAM216B-
-
-
-
3Gain-
FAM219A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM221B-
-
-
-
3Gain-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
3Gain-
FAM240A-
-
-
-
1Loss-
FAM240B-
-
-
-
3Gain-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM57A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71D-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM95C-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCG-
-
-
-
3Gain-
FANCI-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FASLG-
-
-
-
1Loss-
FBH1-
-
-
-
6Amp-
FBLN1-
-
-
-
1Loss-
FBN1-
-
-
-
3Gain-
FBN3-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO10-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCER2-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
5Amp-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
5Amp-
FCHO1-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDX2-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FES-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF7-
-
-
-
3Gain-
FGF9-
-
-
-
3Gain-
FHIT-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FITM2-
-
-
-
4Gain-
FKBP8-
-
-
-
1Loss-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FLT1p.S724P
Missense
SNP
0.595
3Gain-
FLT3-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FLVCR2-
-
-
-
1Loss-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNDC3A-
-
-
-
3Gain-
FOCAD-
-
-
-
3Gain-
FOS-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXO1-
-
-
-
3Gain-
FOXP1-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FREM1-
-
-
-
3Gain-
FREM2-
-
-
-
5Amp-
FRG2C-
-
-
-
1Loss-
FRMD4A-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FRMPD1-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5p.E261K
Missense
SNP
0.634
1Loss-
FUT6-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABPA-
-
-
-
1Loss-
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GALK2-
-
-
-
3Gain-
GALNT1-
-
-
-
1Loss-
GALNT16-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GALT-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GAREM1-
-
-
-
3Gain-
GAREM2-
-
-
-
1Loss-
GART-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBF1-
-
-
-
3Gain-
GCAT-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
4Gain-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDI2-
-
-
-
6Amp-
GDPGP1-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGACT-
-
-
-
1Loss-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGTLC2-
-
-
-
1Loss-
GHRL-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GIGYF2-
-
-
-
1LossDIS3L2--GIGYF2
GIPC3-
-
-
-
1Loss-
GJA3-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GLIPR2-
-
-
-
3Gain-
GLIS3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GLYCTK-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNAZ-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB5-
-
-
-
3Gain-
GNE-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH2L-
-
-
-
1Loss-
GPATCH3-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPIHBP1-
-
-
-
3Gain-
GPN2-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR12-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR62-
-
-
-
1Loss-
GPR89A-
-
-
-
1Loss-
GPR89B-
-
-
-
3Gain-
GPS2-
-
-
-
1Loss-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRHPR-
-
-
-
3Gain-
GRIK1-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
3Gain-
GRK1-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM7p.V254L
Missense
SNP
1.000
1Loss-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GSX1-
-
-
-
3Gain-
GTF2A1-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2F2-
-
-
-
3Gain-
GTF3A-
-
-
-
3Gain-
GTPBP1-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
HACD1-
-
-
-
1Loss-
HACD4-
-
-
-
3Gain-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN4-
-
-
-
1Loss-
HAS2-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HAUS8-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC4p.P799S
Missense
SNP
0.485
2--
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD5-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEMK1-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HIF1Ap.R189L
Missense
SNP
0.578
2--
HIGD1A-
-
-
-
1Loss-
HINT2-
-
-
-
3Gain-
HIRA-
-
-
-
1Loss-
HIST2H2AB-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
1Loss-
HJV-
-
-
-
1Loss-
HLCS-
-
-
-
1Loss-
HLX-
-
-
-
3Gain-
HMCN1-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGB1-
-
-
-
3Gain-
HMGN1-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNF4A-
-
-
-
4Gain-
HNRNPH3-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HPS4-
-
-
-
1Loss-
HRCT1-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD11B1L-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSF2BP-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSPA12Ap.G333E
Missense
SNP
0.545
2--
HSPA13-
-
-
-
1Loss-
HSPA14-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPH1-
-
-
-
3Gain-
HTD2-
-
-
-
1Loss-
HTR2A-
-
-
-
3Gain-
HUNK-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICOSLG-
-
-
-
1Loss-
IDH2-
-
-
-
1Loss-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI30-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
3Gain-
IFNW1-
-
-
-
3Gain-
IFRD2-
-
-
-
1Loss-
IFT172p.Y590C
Missense
SNP
0.360
2--
IFT27-
-
-
-
1Loss-
IFT43-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT88-
-
-
-
3Gain-
IGF1R-
-
-
-
1Loss-
IGFBPL1-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RB-
-
-
-
1Loss-
IL11RA-
-
-
-
3Gain-
IL12RB1-
-
-
-
1Loss-
IL15RA-
-
-
-
6Amp-
IL17D-
-
-
-
3Gain-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL2RA-
-
-
-
6Amp-
IL2RB-
-
-
-
1Loss-
IL33-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL7-
-
-
-
1Loss-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP4B-
-
-
-
2-INPP4B--PTPRQ
INPP5K-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSR-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IRAK2-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF6-
-
-
-
3Gain-
IRS2-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITGA10-
-
-
-
1Loss-
ITGA8-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITSN1-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IZUMO3-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAK3-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JARID2p.Q779L
Missense
SNP
0.495
2--
JDP2-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JOSD1-
-
-
-
1Loss-
JPH2-
-
-
-
4Gain-
JRK-
-
-
-
3Gain-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUND-
-
-
-
1Loss-
KANK1-
-
-
-
3Gain-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KATNAL1-
-
-
-
3Gain-
KATNAL2-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
4Gain-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG3p.S67W
Missense
SNP
0.511
2--
KCNH1-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK15-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNN1-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNRG-
-
-
-
1Loss-
KCNS1-
-
-
-
5Amp-
KCNT2-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELR3-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM3Bp.Q785E
Missense
SNP
0.536
2--
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KHSRP-
-
-
-
1Loss-
KIAA0040-
-
-
-
3Gain-
KIAA0753-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1217-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF24-
-
-
-
3Gain-
KIF3C-
-
-
-
1Loss-
KIF7-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KL-
-
-
-
3Gain-
KLF12-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL12-
-
-
-
3Gain-
KLHL14-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL22-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL9-
-
-
-
3Gain-
KLKB1-
-
-
-
1Loss-
KNTC1-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRASp.G12V
Missense
SNP
0.423
2--
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP12-1-
-
-
-
1Loss-
KRTAP12-2-
-
-
-
1Loss-
KRTAP12-3-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-6-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP20-4-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP21-3-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KXD1-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
LACC1-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LARP4B-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LATS2-
-
-
-
3Gain-
LAX1-
-
-
-
3Gain-
LCA5L-
-
-
-
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-
LCP1-
-
-
-
3Gain-
LDLR-
-
-
-
1Loss-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGR6-
-
-
-
3Gain-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
5Amp-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
6Amp-
LINGO2-
-
-
-
3Gain-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LIX1L-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMOD3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNX2-
-
-
-
3Gain-
LONP1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPAR6-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LRCH1-
-
-
-
3Gain-
LRG1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRRC14-
-
-
-
3Gain-
LRRC19-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC25-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC3-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRIQ1-
-
-
-
1Loss-
LRRN2-
-
-
-
3Gain-
LRRTM3-
-
-
-
1Loss-
LRRTM4p.R198Q
Missense
SNP
0.500
2--
LRTM1-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LURAP1L-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY9-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD4-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAGI1-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K7CL-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
3Gain-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH2-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MAST3-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN4-
-
-
-
5Amp-
MATR3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCHR1-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM3AP-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MDM4-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED15-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED26p.E213K
Missense
SNP
0.406
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
3Gain-
MED6-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
3Gain-
MEF2A-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEI1-
-
-
-
1Loss-
MEIG1-
-
-
-
3Gain-
MEIS2-
-
-
-
3Gain-
MELK-
-
-
-
3Gain-
MEP1B-
-
-
-
3Gain-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL16-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICU2-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MIOX-
-
-
-
1Loss-
MIPEP-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MLANA-
-
-
-
3Gain-
MLC1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLNR-
-
-
-
3Gain-
MMP11-
-
-
-
1Loss-
MMP9-
-
-
-
5Amp-
MN1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORC3-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
3Gain-
MPI-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP-
-
-
-
1Loss-
MRC1-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL24-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL39-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS6-
-
-
-
1Loss-
MRTFA-
-
-
-
1Loss-
MSMP-
-
-
-
3Gain-
MSRB2-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MTAPp.R133T
Missense
SNP
1.000
3Gain-
MTIF3-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR6-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTUS2-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC16-
-
-
-
1Loss-
MUC5Bp.E1852D
Missense
SNP
0.501
2--
MUM1-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL2-
-
-
-
3Gain-
MYBPH-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
3Gain-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL1p.Q118*
Nonsense
SNP
0.446
2--
MYL3-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO1Ap.X249_splice
Splice_Site
SNP
0.505
2--
MYO1C-
-
-
-
1Loss-
MYO1F-
-
-
-
1Loss-
MYO5A-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
3Gain-
MYO9B-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYORG-
-
-
-
3Gain-
MYPN-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
N6AMT1-
-
-
-
1Loss-
NAA16-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPRT-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAXD-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
3Gain-
NBEAL2-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF10-
-
-
-
1Loss-
NBPF12-
-
-
-
1Loss-
NBPF15-
-
-
-
1Loss-
NBPF20-
-
-
-
1Loss-
NCAM2-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOA3-
-
-
-
5Amp-
NCOA5-
-
-
-
5Amp-
NCOR1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFB6-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NEK9-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NET1-
-
-
-
6Amp-
NEURL2-
-
-
-
5Amp-
NEURL4-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFASC-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFIB-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFX1-
-
-
-
3Gain-
NGB-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHLRC3-
-
-
-
5Amp-
NICN1-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMT2-
-
-
-
3Gain-
NOBOX-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL6-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPHP1p.D645E
Missense
SNP
0.537
2--
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C2AP-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRDE2p.G942A
Missense
SNP
0.528
2--
NRIP1-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTNG1-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTS-
-
-
-
1Loss-
NUAK2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDC-
-
-
-
1Loss-
NUDT15-
-
-
-
3Gain-
NUDT17-
-
-
-
1Loss-
NUDT2-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUMB-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP50-
-
-
-
1Loss-
NUP58-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NWD1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXPH2-
-
-
-
0Del-
OAZ1-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OC90-
-
-
-
3Gain-
OCEL1-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCSTAMP-
-
-
-
5Amp-
ODF3B-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OLAH-
-
-
-
3Gain-
OLFM2-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
ONECUT1-
-
-
-
3Gain-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPLAH-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR13J1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1C1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
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-
OR2S2-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR2Z1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4M2-
-
-
-
6Amp-
OR4N4-
-
-
-
6Amp-
OR52B4-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR6B1-
-
-
-
1Loss-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSER1-
-
-
-
4Gain-
OTOGL-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P3H2-
-
-
-
1Loss-
P3H3p.L448V
Missense
SNP
0.568
2--
P4HTM-
-
-
-
1Loss-
PABPC1L-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PACSIN2-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PAN3-
-
-
-
3Gain-
PANX2-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
3Gain-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX5-
-
-
-
3Gain-
PAXBP1-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBX4-
-
-
-
1Loss-
PBXIP1-
-
-
-
3Gain-
PCBP3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCDH10p.T710S
Missense
SNP
0.358
2--
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHGA9p.I801T
Missense
SNP
0.506
2--
PCID2-
-
-
-
1Loss-
PCIF1-
-
-
-
5Amp-
PCNT-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCP2-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
3Gain-
PDE12-
-
-
-
1Loss-
PDE3Ap.A216G
Missense
SNP
0.604
2--
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDLIM1-
-
-
-
1Loss-
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDXK-
-
-
-
1Loss-
PDXP-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZK1-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX11A-
-
-
-
1Loss-
PEX11B-
-
-
-
1Loss-
PEX11G-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX26-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
6Amp-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGPEP1-
-
-
-
1Loss-
PGPEP1L-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PI3-
-
-
-
5Amp-
PI4KA-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGH-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
3Gain-
PIGP-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGT-
-
-
-
5Amp-
PIGV-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3C3-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKIA-
-
-
-
1Loss-
PKIG-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKNOX1-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G6-
-
-
-
1Loss-
PLAA-
-
-
-
3Gain-
PLD2-
-
-
-
1Loss-
PLD5p.S151C
Missense
SNP
0.391
2--
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHD1-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLGRKT-
-
-
-
3Gain-
PLIN1-
-
-
-
1Loss-
PLIN2-
-
-
-
3Gain-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
5Amp-
PLVAP-
-
-
-
1Loss-
PLXDC2-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PM20D1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMM1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNLIPRP3-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
POFUT2-
-
-
-
1Loss-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLDIP3-
-
-
-
1Loss-
POLG-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLR1D-
-
-
-
3Gain-
POLR1E-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR3C-
-
-
-
1Loss-
POLR3GL-
-
-
-
1Loss-
POLR3H-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L12-
-
-
-
3Gain-
POMC-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POMT2-
-
-
-
1Loss-
POSTN-
-
-
-
5Amp-
POTEB-
-
-
-
6Amp-
POTED-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPFIBP1p.C289F
Missense
SNP
0.380
2--
PPIL2-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R12A-
-
-
-
1Loss-
PPP1R12B-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAME-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRDM15-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCQ-
-
-
-
6Amp-
PRKCSH-
-
-
-
1Loss-
PRMT2-
-
-
-
1Loss-
PRMT6-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROSER1-
-
-
-
5Amp-
PROSER2-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROX2-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRSS3-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PSCA-
-
-
-
3Gain-
PSEN1-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
3Gain-
PSMB4-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMG1-
-
-
-
1Loss-
PSPC1-
-
-
-
3Gain-
PSPN-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGIS-
-
-
-
4Gain-
PTGR2-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
4Gain-
PTPN14-
-
-
-
3Gain-
PTPN23-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRD-
-
-
-
3Gain-
PTPRG-
-
-
-
1Loss-
PTPRQ-
-
-
-
1LossINPP4B--PTPRQ
PTPRS-
-
-
-
1Loss-
PTTG1IP-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
PYCR3-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QARS-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
QTRT1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
4Gain-
RAB10-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB27B-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB36-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RABL2B-
-
-
-
1Loss-
RAC2-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RANBP1-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASL11A-
-
-
-
3Gain-
RASSF1-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF9-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8NLp.T242M
Missense
SNP
0.451
2--
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
6Amp-
RBM25-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM8A-
-
-
-
1Loss-
RBPJL-
-
-
-
5Amp-
RBX1-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCAN1-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
3Gain-
RCCD1-
-
-
-
1Loss-
RCL1-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
RECK-
-
-
-
3Gain-
RECQL4-
-
-
-
3Gain-
REEP6-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REN-
-
-
-
3Gain-
RETN-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
RFC3-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RFXANK-
-
-
-
1Loss-
RGCC-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGL3-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGMA-
-
-
-
1Loss-
RGP1-
-
-
-
3Gain-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHCG-
-
-
-
1Loss-
RHEX-
-
-
-
0Del-
RHOA-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIMS4-
-
-
-
3Gain-
RIOX1-
-
-
-
1Loss-
RIPK4-
-
-
-
1Loss-
RIPOR3-
-
-
-
4Gain-
RIPPLY3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF114-
-
-
-
4Gain-
RNF115-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
3Gain-
RNF126-
-
-
-
1Loss-
RNF138-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF219-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF38-
-
-
-
3Gain-
RNF6-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL21-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL36-
-
-
-
1Loss-
RPL8-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS15-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS28-
-
-
-
1Loss-
RPS6-
-
-
-
3Gain-
RPS6KA1-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPS6KL1-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RRAGA-
-
-
-
3Gain-
RRM1-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP1-
-
-
-
1Loss-
RRP15-
-
-
-
3Gain-
RRP1B-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RSL24D1-
-
-
-
3Gain-
RSPH1-
-
-
-
1Loss-
RSPH14-
-
-
-
1Loss-
RSRC2-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2p.V196I
Missense
SNP
0.432
2--
RTP3-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
3Gain-
RUFY2-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
3Gain-
RWDD2B-
-
-
-
1Loss-
RXFP2-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100B-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
3Gain-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP18-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SAXO1-
-
-
-
3Gain-
SBF1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAF4-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG3-
-
-
-
3Gain-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCP2D1p.F150S
Missense
SNP
0.462
2--
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCUBE1-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDC4-
-
-
-
5Amp-
SDE2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SECISBP2L-
-
-
-
3Gain-
SEL1L-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOI-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
3Gain-
SEMG1-
-
-
-
5Amp-
SEMG2-
-
-
-
5Amp-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC3-
-
-
-
4Gain-
SERP2-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINI2-
-
-
-
1Loss-
SERTAD4-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2p.V202M
Missense
SNP
1.000
1Loss-
SEZ6L-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFN-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SGCG-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D3A-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
3Gain-
SHANK2p.H915Q
Missense
SNP
0.597
2--
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC4-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHISA2-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
3Gain-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIT1-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SLA-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC12A1-
-
-
-
3Gain-
SLC12A5-
-
-
-
5Amp-
SLC13A3-
-
-
-
5Amp-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC19A1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
3Gain-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC24A2-
-
-
-
3Gain-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A15-
-
-
-
3Gain-
SLC25A16-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A51-
-
-
-
3Gain-
SLC25A52-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A9-
-
-
-
3Gain-
SLC27A1-
-
-
-
1Loss-
SLC27A2-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC2A10-
-
-
-
5Amp-
SLC2A11-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC35C2-
-
-
-
5Amp-
SLC35E1-
-
-
-
1Loss-
SLC35E2Bp.L161V
Missense
SNP
0.534
2--
SLC35G6-
-
-
-
1Loss-
SLC37A1-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC43A2-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC5A3-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC7A1-
-
-
-
3Gain-
SLC7A4-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A8-
-
-
-
4Gain-
SLCO3A1-
-
-
-
1Loss-
SLCO5A1p.D234Y
Missense
SNP
0.559
2--
SLIRP-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLPI-
-
-
-
5Amp-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMG7-
-
-
-
3Gain-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
3Gain-
SMIM34A-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
4Gain-
SNAP29-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNRPE-
-
-
-
3Gain-
SNTN-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX21-
-
-
-
5Amp-
SNX27-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX21-
-
-
-
1Loss-
SPAAR-
-
-
-
3Gain-
SPACA7-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
3Gain-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA2-
-
-
-
4Gain-
SPATA22-
-
-
-
1Loss-
SPATA25-
-
-
-
5Amp-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPATA8-
-
-
-
1Loss-
SPATC1-
-
-
-
3Gain-
SPATC1L-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPERT-
-
-
-
3Gain-
SPINK4-
-
-
-
3Gain-
SPINK8-
-
-
-
1Loss-
SPINT3-
-
-
-
5Amp-
SPINT4-
-
-
-
5Amp-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOPL-
-
-
-
0Del-
SPPL2A-
-
-
-
3Gain-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTLC2-
-
-
-
1Loss-
SQLE-
-
-
-
3Gain-
SRA1-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSTR3-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST3GAL1-
-
-
-
3Gain-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAM-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD13-
-
-
-
3Gain-
STARD6-
-
-
-
1Loss-
STAU1-
-
-
-
4Gain-
STIM1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
5Amp-
STON2-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
SUCLA2-
-
-
-
3Gain-
SUCLG2-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULF2p.H651D
Missense
SNP
0.227
5Amp-
SULT4A1-
-
-
-
1Loss-
SUMO3-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUSD1p.T584A
Missense
SNP
1.000
2--
SUSD2-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYCE3-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYS1-
-
-
-
5Amp-
SYS1-DBNDD2-
-
-
-
5Amp-
SYT1-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TADA3-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1L-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TANGO2-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D12p.R416S
Missense
SNP
0.585
2--
TBC1D22A-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D31-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TCAF1-
-
-
-
2-TPK1--TCAF1
TCAIM-
-
-
-
1Loss-
TCF20-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCP10L-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD3-
-
-
-
1Loss-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
1Loss-
TEK-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TESK1-
-
-
-
3Gain-
TET1-
-
-
-
1Loss-
TEX26-
-
-
-
3Gain-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX45-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TEX9-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFIP11-
-
-
-
1Loss-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFB3-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIMM13-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TJP3-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLN1-
-
-
-
3Gain-
TLR3-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO5A-
-
-
-
3Gain-
TMED1-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184B-
-
-
-
1Loss-
TMEM189-
-
-
-
4Gain-
TMEM189-UBE2V1-
-
-
-
4Gain-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM215-
-
-
-
3Gain-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM236-
-
-
-
1Loss-
TMEM249-
-
-
-
3Gain-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM65-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF19-
-
-
-
3Gain-
TNFSF11-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF18-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
5Amp-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOB2-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPORS-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TP53p.Y234C
Missense
SNP
1.000
1Loss-
TP53RK-
-
-
-
5Amp-
TP53TG5-
-
-
-
5Amp-
TP63-
-
-
-
1Loss-
TPD52L3-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPK1-
-
-
-
1LossTPK1--TCAF1
TPM2-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPM4-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRG1-
-
-
-
1Loss-
TPRG1L-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
3Gain-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRABD-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC8-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TRDMT1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRIB1-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIOBP-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRMT10B-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRPC4-
-
-
-
5Amp-
TRPM2-
-
-
-
1Loss-
TRPM7-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4p.M482I
Missense
SNP
0.533
2--
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN16-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC24-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39B-
-
-
-
3Gain-
TTC9-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTPAL-
-
-
-
4Gain-
TTR-
-
-
-
3Gain-
TUBA3C-
-
-
-
3Gain-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
6Amp-
TUBB4A-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TUSC1-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TXN2-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNIP-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYMPp.R374G
Missense
SNP
0.773
1Loss-
TYRP1-
-
-
-
3Gain-
U2AF1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBAP1-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2C-
-
-
-
5Amp-
UBE2E1-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2L3-
-
-
-
1Loss-
UBE2L5-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2R2-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2V1-
-
-
-
4Gain-
UBL3-
-
-
-
3Gain-
UBL5-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCK2-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
6Amp-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
1Loss-
UFM1-
-
-
-
5Amp-
UGGT2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF2-
-
-
-
3Gain-
ULK3-
-
-
-
1Loss-
UMODL1-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC13B-
-
-
-
3Gain-
UNC13C-
-
-
-
3Gain-
UNC45A-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
URAD-
-
-
-
3Gain-
URB1-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH2A-
-
-
-
3Gain-
USHBP1-
-
-
-
1Loss-
USP12-
-
-
-
3Gain-
USP16-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP25-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP50-
-
-
-
3Gain-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
USP8-
-
-
-
3Gain-
USPL1-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VASH2-
-
-
-
3Gain-
VAV1-
-
-
-
1Loss-
VCP-
-
-
-
3Gain-
VHL-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13B-
-
-
-
3Gain-
VPS26C-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS33B-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VRTN-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSX2-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA8-
-
-
-
3Gain-
WASF3-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WBP2NL-
-
-
-
1Loss-
WBP4-
-
-
-
3Gain-
WDFY2-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR4-
-
-
-
1Loss-
WDR49-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR93-
-
-
-
1Loss-
WDR97-
-
-
-
3Gain-
WDTC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
5Amp-
WFDC10B-
-
-
-
5Amp-
WFDC11-
-
-
-
5Amp-
WFDC12-
-
-
-
5Amp-
WFDC13-
-
-
-
5Amp-
WFDC2-
-
-
-
5Amp-
WFDC3-
-
-
-
5Amp-
WFDC5-
-
-
-
5Amp-
WFDC6-
-
-
-
5Amp-
WFDC8-
-
-
-
5Amp-
WFDC9-
-
-
-
5Amp-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNK4p.I384N
Missense
SNP
0.464
2--
WNT3A-
-
-
-
3Gain-
WNT5A-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
3Gain-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XKR3-
-
-
-
1Loss-
XPNPEP1-
-
-
-
0Del-
XPNPEP3-
-
-
-
1Loss-
XPO4-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRCC6-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
1Loss-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
3Gain-
ZBBX-
-
-
-
1Loss-
ZBED4-
-
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-
1Loss-
ZBED6-
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-
3Gain-
ZBTB21-
-
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-
1Loss-
ZBTB37-
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-
3Gain-
ZBTB4-
-
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-
1Loss-
ZBTB41-
-
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3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB5-
-
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-
3Gain-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H13-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZC3H7B-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC7-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZDHHC11-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZDHHC20-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC22-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZFAT-
-
-
-
3Gain-
ZFP3-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZHX2-
-
-
-
1Loss-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
5Amp-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF334-
-
-
-
5Amp-
ZNF335-
-
-
-
5Amp-
ZNF34-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF518A-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF653-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF69-
-
-
-
1Loss-
ZNF692-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF699-
-
-
-
1Loss-
ZNF7-
-
-
-
3Gain-
ZNF70-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF707-
-
-
-
3Gain-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF710-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF74-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF774-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNFX1-
-
-
-
4Gain-
ZNRF3-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM1-
-
-
-
5Amp-
ZSWIM3-
-
-
-
5Amp-
ZSWIM7-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-