WU-0041-T1-X1P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
AADAC-
-
-
-
5Amp-
AADACL2-
-
-
-
5Amp-
AAMP-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
1Loss-
ABCA10-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB6-
-
-
-
1Loss-
ABCC3-
-
-
-
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCC9-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG4-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI3-
-
-
-
3Gain-
ABI3BP-
-
-
-
5Amp-
ABLIM2-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC003002.1-
-
-
-
3Gain-
AC003002.2-
-
-
-
3Gain-
AC003002.3-
-
-
-
3Gain-
AC003005.1-
-
-
-
3Gain-
AC003006.1-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
3Gain-
AC004687.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
4Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005702.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC010197.2-
-
-
-
1Loss-
AC010326.2-
-
-
-
3Gain-
AC010487.3-
-
-
-
3Gain-
AC010522.1-
-
-
-
3Gain-
AC010615.4-
-
-
-
3Gain-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
5Amp-
AC021660.3-
-
-
-
5Amp-
AC022335.1-
-
-
-
1Loss-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC026316.5-
-
-
-
5Amp-
AC026954.2-
-
-
-
1Loss-
AC046185.1-
-
-
-
4Gain-
AC055811.2-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC068775.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069257.3-
-
-
-
5Amp-
AC079594.2-
-
-
-
5Amp-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
3Gain-
AC092442.1-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099850.2-
-
-
-
3Gain-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
5Amp-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC113554.1-
-
-
-
4Gain-
AC117457.1-
-
-
-
5Amp-
AC120057.2-
-
-
-
1Loss-
AC127029.3-
-
-
-
4Gain-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACADL-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
5Amp-
ACAT1-
-
-
-
1Loss-
ACE-
-
-
-
4Gain-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACRBP-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSF2-
-
-
-
3Gain-
ACSL3-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT3-
-
-
-
5Amp-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAMTS15-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS6p.R1009H
Missense
SNP
0.584
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRE2p.L160V
Missense
SNP
0.108
2--
ADGRG7-
-
-
-
5Amp-
ADIPOQ-
-
-
-
4Gain-
ADIPOR2-
-
-
-
3Gain-
ADNP2-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPRHL1-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
AEBP2-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AHSG-
-
-
-
3Gain-
AICDA-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AK3-
-
-
-
3Gain-
AK6-
-
-
-
1Loss-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP3-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--RN7SK
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALCAM-
-
-
-
5Amp-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG10-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK2-
-
-
-
3Gain-
ALS2CL-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
AMZ2-
-
-
-
6Amp-
ANAPC4-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANK2p.S1568N
Missense
SNP
0.443
2--
ANKDD1B-
-
-
-
1Loss-
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKK1-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD10-
-
-
-
3Gain-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD40-
-
-
-
3Gain-
ANKRD49-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD7-
-
-
-
1Loss-
ANKUB1-
-
-
-
5Amp-
ANKZF1-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANP32Bp.D250N
Missense
SNP
0.608
2--
ANP32E-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP005135.1-
-
-
-
NDNDTRPV3--AP005135.1
AP1S3-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC1-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOD-
-
-
-
5Amp-
APOH-
-
-
-
4Gain-
APOLD1-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
APPL1-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF26-
-
-
-
5Amp-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF7-
-
-
-
3Gain-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
5Amp-
ARL14-
-
-
-
5Amp-
ARL15-
-
-
-
1Loss-
ARL6-
-
-
-
5Amp-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC7-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARNTL2-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
6Amp-
ART4-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASPH-
-
-
-
1Loss-
ASZ1-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATF7IP-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP11B-
-
-
-
3Gain-
ATP12A-
-
-
-
1Loss-
ATP13A3-
-
-
-
4Gain-
ATP13A4-
-
-
-
4Gain-
ATP13A5-
-
-
-
4Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP4B-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5MC1-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5PD-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP9B-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
3Gain-
AXIN2-
-
-
-
4Gain-
AZI2-
-
-
-
1Loss-
B3GALNT1-
-
-
-
5Amp-
B3GAT1-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B4GALNT2-
-
-
-
3Gain-
B4GALNT3-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B9D1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAS3-
-
-
-
3Gain-
BCAT1-
-
-
-
1Loss-
BCHE-
-
-
-
5Amp-
BCL2-
-
-
-
3Gain-
BCL2L14-
-
-
-
1Loss-
BCL6-
-
-
-
4Gain-
BCL6B-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
5Amp-
BDP1-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BHLHE41-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC8-
-
-
-
3Gain-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BORA-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BPTF-
-
-
-
6Amp-
BRCA2-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRIP1-
-
-
-
7Amp-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRSK2-
-
-
-
3Gain-
BSN-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD6-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTLAp.E222K
Missense
SNP
0.114
2--
BUD13-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C12orf4-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf58-
-
-
-
6Amp-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C19orf18-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61p.S55F
Missense
SNP
0.366
3Gain-
C1orf68-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD5-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf33-
-
-
-
5Amp-
C3orf38-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
5Amp-
C3orf84-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C9orf66-
-
-
-
3Gain-
CA10-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA4-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1G-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNA2D4-
-
-
-
1Loss-
CACNG1-
-
-
-
6Amp-
CACNG4-
-
-
-
6Amp-
CACNG5-
-
-
-
6Amp-
CADM1-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN2-
-
-
-
1Loss-
CAPZA2-
-
-
-
1Loss-
CAPZA3-
-
-
-
1Loss-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARS2-
-
-
-
3Gain-
CARTPT-
-
-
-
1Loss-
CASC1-
-
-
-
1Loss-
CASKIN2-
-
-
-
5Amp-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CATIP-
-
-
-
1Loss-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLB-
-
-
-
5Amp-
CBLN2-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CC2D2A-
-
-
-
1Loss-
CCBE1-
-
-
-
3Gain-
CCDC102B-
-
-
-
3Gain-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC140-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC190-
-
-
-
3Gain-
CCDC36-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC47-
-
-
-
4Gain-
CCDC50-
-
-
-
4Gain-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
3Gain-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC77-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC91-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCND2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNL1-
-
-
-
5Amp-
CCNO-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT3p.Q533Rfs*16
Frame_Shift_Del
DEL
0.333
3Gain-
CD14-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD226-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD27-
-
-
-
1Loss-
CD274-
-
-
-
3Gain-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD48-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD79B-
-
-
-
4Gain-
CD84-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC16-
-
-
-
3Gain-
CDC20B-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC37L1-
-
-
-
3Gain-
CDC42EP4-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDCA3-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH19-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH7-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELSR3-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP112-
-
-
-
4Gain-
CEP126-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP19-
-
-
-
5Amp-
CEP295-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP95-
-
-
-
4Gain-
CEP97-
-
-
-
5Amp-
CERS2-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP300-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
3Gain-
CFAP65-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFTR-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CHAD-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNE-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIDEC-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
4Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
5Amp-
CLDN16-
-
-
-
4Gain-
CLDN25-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDND1-
-
-
-
5Amp-
CLEC10A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLRN1-
-
-
-
5Amp-
CLRN2-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLVS1-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMSS1-
-
-
-
5Amp-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNGA1-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COG1-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL1A1-
-
-
-
3Gain-
COL22A1-
-
-
-
1Loss-
COL25A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A3-
-
-
-
0Del-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
5Amp-
COL9A1-
-
-
-
1Loss-
COLCA2-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD2-
-
-
-
5Amp-
COMMD6-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COPA-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX11-
-
-
-
3Gain-
COX7B2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPED1-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPN2-
-
-
-
4Gain-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
5Amp-
CPS1-
-
-
-
1Loss-
CPSF4L-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREBL2-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRYAB-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYBG3-
-
-
-
5Amp-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CSF2RBp.G765V
Missense
SNP
0.429
2--
CSH1-
-
-
-
4Gain-
CSHL1-
-
-
-
4Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNKA2IP-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
3Gain-
CTDSP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTIF-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CUEDC1-
-
-
-
3Gain-
CUL3-
-
-
-
1Loss-
CUL4A-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXorf40Ap.A84V
Missense
SNP
1.000
NDND-
CXXC1-
-
-
-
3Gain-
CXXC5-
-
-
-
1Loss-
CYB561-
-
-
-
4Gain-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
3Gain-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAW1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF16-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF7-
-
-
-
4Gain-
DCAF8-
-
-
-
3Gain-
DCBLD2-
-
-
-
5Amp-
DCC-
-
-
-
3Gain-
DCLK1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP1B-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTN5p.R49*
Nonsense
SNP
0.388
2--
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DCUN1D5-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX42-
-
-
-
4Gain-
DDX47-
-
-
-
1Loss-
DDX5-
-
-
-
4Gain-
DDX6-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEFB131A-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND5B-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DEUP1-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
5Amp-
DHRS12-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX36-
-
-
-
5Amp-
DHX40-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
5Amp-
DLG4-
-
-
-
1Loss-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DMAC1-
-
-
-
3Gain-
DMGDH-
-
-
-
1Loss-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAI2-
-
-
-
3Gain-
DNAJB11-
-
-
-
3Gain-
DNAJB2-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC3-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNM1L-
-
-
-
1Loss-
DNPEP-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOK6-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPPA3-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSEL-
-
-
-
3Gain-
DTHD1-
-
-
-
1Loss-
DUSP12-
-
-
-
3Gain-
DUSP16-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLL2-
-
-
-
3Gain-
DYRK4-
-
-
-
1Loss-
DYTN-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
5Amp-
EDEM1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EFCAB3-
-
-
-
7Amp-
EFHB-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
5Amp-
EIF2B5-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
4Gain-
EIF4E3-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
5Amp-
ELAC1-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELOA2-
-
-
-
3Gain-
ELOVL7-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EME1-
-
-
-
3Gain-
EMG1-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD3-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPG5-
-
-
-
3Gain-
EPHA4-
-
-
-
1Loss-
EPHA6-
-
-
-
5Amp-
EPHB3-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPN3-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EPX-
-
-
-
3Gain-
ERBB4-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERICH6-
-
-
-
5Amp-
ERICH6B-
-
-
-
1Loss-
ERMP1-
-
-
-
3Gain-
ERN1-
-
-
-
4Gain-
ERP27-
-
-
-
1Loss-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ETFBKMT-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
ETV6-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EYSp.E1482Q
Missense
SNP
0.603
2--
F10-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F7-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAM104A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM117A-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM151B-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM184B-
-
-
-
1Loss-
FAM189B-
-
-
-
3Gain-
FAM193A-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM20A-
-
-
-
6Amp-
FAM216B-
-
-
-
1Loss-
FAM217Bp.W306*
Nonsense
SNP
0.579
2--
FAM234B-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM3C-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
5Amp-
FAM53A-
-
-
-
1Loss-
FAM69C-
-
-
-
3Gain-
FAM72C-
-
-
-
3Gain-
FAM72D-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83G-
-
-
-
1Loss-
FAM90A1-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FAR2-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FAT3p.E809K
Missense
SNP
1.000
1Loss-
FBLN2-
-
-
-
1Loss-
FBXL14-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXO15-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO45-
-
-
-
5Amp-
FBXW10-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDCSP-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGD4-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
4Gain-
FGF14-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FILIP1L-
-
-
-
5Amp-
FKBP4-
-
-
-
1Loss-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
5Amp-
FLG2-
-
-
-
5Amp-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FMO5-
-
-
-
3Gain-
FN1-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
5Amp-
FOXD1-
-
-
-
1Loss-
FOXD4-
-
-
-
3Gain-
FOXJ2-
-
-
-
1Loss-
FOXM1-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FTSJ3-
-
-
-
4Gain-
FUT4-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
5Amp-
FZD5-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRR3-
-
-
-
5Amp-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GALK1-
-
-
-
5Amp-
GALNT15-
-
-
-
1Loss-
GALNT8-
-
-
-
1Loss-
GALR1-
-
-
-
3Gain-
GAPDH-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAS6-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDPD1-
-
-
-
3Gain-
GFM1-
-
-
-
5Amp-
GFM2-
-
-
-
1Loss-
GGA3-
-
-
-
5Amp-
GGACT-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GH1-
-
-
-
4Gain-
GH2-
-
-
-
4Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
5Amp-
GID4-
-
-
-
1Loss-
GIP-
-
-
-
3Gain-
GJA3-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB2-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLDC-
-
-
-
3Gain-
GLIS3-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLP2R-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GMNC-
-
-
-
4Gain-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPS-
-
-
-
5Amp-
GNA13-
-
-
-
4Gain-
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
5Amp-
GNGT2-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLIM4-
-
-
-
5Amp-
GOLPH3L-
-
-
-
3Gain-
GOLT1B-
-
-
-
1Loss-
GON4L-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP5-
-
-
-
4Gain-
GPALPP1-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPR12-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR149-
-
-
-
5Amp-
GPR15-
-
-
-
5Amp-
GPR151-
-
-
-
1Loss-
GPR160-
-
-
-
5Amp-
GPR162-
-
-
-
1Loss-
GPR171-
-
-
-
5Amp-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR37-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPR85-
-
-
-
1Loss-
GPR87-
-
-
-
5Amp-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRC5D-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB2-
-
-
-
5Amp-
GRIA4-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIN1p.D927N
Missense
SNP
0.416
2--
GRIN2B-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
3Gain-
GRPEL1-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSG1-
-
-
-
1Loss-
GSK3Bp.Q295*
Nonsense
SNP
0.424
2--
GSX1-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2I-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GUCY1A2-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYS2-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H3F3B-
-
-
-
5Amp-
H3F3C-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
3Gain-
HAUS3-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBEGF-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDHD2-
-
-
-
3Gain-
HEATR6-
-
-
-
3Gain-
HEBP1-
-
-
-
1Loss-
HELZ-
-
-
-
6Amp-
HEMK1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HES1-
-
-
-
4Gain-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HGFAC-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HID1-
-
-
-
3Gain-
HIGD1A-
-
-
-
1Loss-
HINFP-
-
-
-
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-
HIST4H4-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMSD-
-
-
-
3Gain-
HMX1-
-
-
-
1Loss-
HNRNPA1L2-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HRASLS-
-
-
-
4Gain-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRNR-
-
-
-
5Amp-
HS3ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSF5-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPH1-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR5Ap.R230C
Missense
SNP
0.407
2--
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUWE1p.D3773N
Missense
SNP
1.000
NDND-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IAPP-
-
-
-
1Loss-
ICAM2-
-
-
-
4Gain-
IDH1-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER3IP1-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFRD1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT80-
-
-
-
5Amp-
IFT88-
-
-
-
1Loss-
IGF2BP1-
-
-
-
3Gain-
IGF2BP2-
-
-
-
3Gain-
IGFBP2-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGSF10-
-
-
-
5Amp-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL12A-
-
-
-
5Amp-
IL17D-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL1RAP-
-
-
-
4Gain-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
3Gain-
IL5RA-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
ILF2-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
5Amp-
INCA1-
-
-
-
1Loss-
ING1-
-
-
-
3Gain-
ING3-
-
-
-
1Loss-
ING4-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INTS13-
-
-
-
1Loss-
INTS2-
-
-
-
7Amp-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO8-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
5Amp-
IQCJ-
-
-
-
5Amp-
IQCJ-SCHIP1-
-
-
-
5Amp-
IQGAP2-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IQSEC3-
-
-
-
1Loss-
IQUB-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ITFG2-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA2-
-
-
-
1Loss-
ITGA3-
-
-
-
3Gain-
ITGA4p.D377N
Missense
SNP
0.545
2--
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB4-
-
-
-
5Amp-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR2-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IZUMO1R-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAKMIP1-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPT1-
-
-
-
3Gain-
JRKL-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KANSL1L-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KAT7-
-
-
-
3Gain-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
3Gain-
KBTBD3-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNAB1-
-
-
-
5Amp-
KCNAB3-
-
-
-
1Loss-
KCND2-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
3Gain-
KCNH6-
-
-
-
4Gain-
KCNH8-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
1Loss-
KCNJ2-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ8-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNMB2-
-
-
-
5Amp-
KCNMB3-
-
-
-
5Amp-
KCNN3-
-
-
-
3Gain-
KCNRG-
-
-
-
1Loss-
KCNV2-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
1Loss-
KDM4C-
-
-
-
3Gain-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5A-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDSR-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1551-
-
-
-
1Loss-
KIAA2026-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF19-
-
-
-
3Gain-
KIF1C-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF2Bp.R171*
Nonsense
SNP
0.332
3Gain-
KIF9-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL42-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMT2A-
-
-
-
1Loss-
KNDC1p.K1402N
Missense
SNP
0.546
2--
KNG1-
-
-
-
4Gain-
KPNA2-
-
-
-
6Amp-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
5Amp-
KPRP-
-
-
-
3Gain-
KRAS-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-4-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP16-1-
-
-
-
3Gain-
KRTAP2-2-
-
-
-
3Gain-
KRTAP29-1-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
3Gain-
KRTAP4-11-
-
-
-
3Gain-
KRTAP4-12-
-
-
-
3Gain-
KRTAP4-16-
-
-
-
3Gain-
KRTAP4-2-
-
-
-
3Gain-
KRTAP4-3-
-
-
-
3Gain-
KRTAP4-4-
-
-
-
3Gain-
KRTAP4-5-
-
-
-
3Gain-
KRTAP4-6-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP4-9-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
3Gain-
KRTAP5-2-
-
-
-
3Gain-
KRTAP5-3-
-
-
-
3Gain-
KRTAP5-4-
-
-
-
3Gain-
KRTAP5-5-
-
-
-
3Gain-
KRTAP5-6-
-
-
-
3Gain-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-6-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-8-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KRTCAP2-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LAG3-
-
-
-
1Loss-
LAMA1p.D1075N
Missense
SNP
0.557
2--
LAMA3-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMP1-
-
-
-
3Gain-
LAMP3-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LANCL1-
-
-
-
1Loss-
LAP3-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1D-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDHB-
-
-
-
1Loss-
LEKR1-
-
-
-
5Amp-
LELP1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LETM1-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LIMCH1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMD2-
-
-
-
4Gain-
LINGO4-
-
-
-
3Gain-
LIPG-
-
-
-
3Gain-
LIPH-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLGL2-
-
-
-
5Amp-
LMAN1-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMLN-
-
-
-
5Amp-
LMNA-
-
-
-
3Gain-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNP1-
-
-
-
5Amp-
LNX1p.S527L
Missense
SNP
0.451
2--
LNX2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1-
-
-
-
3Gain-
LPAR5-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT3-
-
-
-
1Loss-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
4Gain-
LRCH1-
-
-
-
1Loss-
LRCH3-
-
-
-
5Amp-
LRIG1-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRRC15-
-
-
-
4Gain-
LRRC2-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC31-
-
-
-
5Amp-
LRRC34-
-
-
-
5Amp-
LRRC37A3-
-
-
-
4Gain-
LRRC3B-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC59-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ4-
-
-
-
5Amp-
LRRN1-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LRTM2-
-
-
-
1Loss-
LSG1-
-
-
-
5Amp-
LSM3-
-
-
-
1Loss-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LUC7L3-
-
-
-
3Gain-
LXN-
-
-
-
5Amp-
LY9-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAGEF1-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGOHB-
-
-
-
1Loss-
MALT1-
-
-
-
3Gain-
MAML2-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K6-
-
-
-
3Gain-
MAP3K1-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K3-
-
-
-
4Gain-
MAP4-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAPK4-
-
-
-
3Gain-
MAPK7-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MARCH10-
-
-
-
7Amp-
MARCH4-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP1-
-
-
-
4Gain-
MAST4-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MB21D2-
-
-
-
4Gain-
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBNL1-
-
-
-
5Amp-
MBNL2-
-
-
-
1Loss-
MBP-
-
-
-
3Gain-
MBTD1-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MCAM-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCF2L-
-
-
-
3Gain-
MCF2L2-
-
-
-
3Gain-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MDFIC-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
ME2-
-
-
-
3Gain-
MECOM-
-
-
-
5Amp-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
5Amp-
MED13-
-
-
-
7Amp-
MED17-
-
-
-
1Loss-
MED21-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MELTF-
-
-
-
5Amp-
MET-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL2A-
-
-
-
7Amp-
METTL6-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3C-
-
-
-
3Gain-
MFAP4-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFN1-
-
-
-
5Amp-
MFRP-
-
-
-
1Loss-
MFSD1-
-
-
-
5Amp-
MFSD10-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MICU2-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIF4GD-
-
-
-
5Amp-
MILR1-
-
-
-
4Gain-
MINDY1-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKS1-
-
-
-
3Gain-
MLANA-
-
-
-
3Gain-
MLF1-
-
-
-
5Amp-
MLF2-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MMD-
-
-
-
3Gain-
MME-
-
-
-
5Amp-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MOB2-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPO-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRC2-
-
-
-
7Amp-
MRE11-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRO-
-
-
-
3Gain-
MRPL24-
-
-
-
3Gain-
MRPL27-
-
-
-
3Gain-
MRPL44-
-
-
-
1Loss-
MRPL51-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPL58-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS31-
-
-
-
1Loss-
MRPS35-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS7-
-
-
-
5Amp-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSI2-
-
-
-
3Gain-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR4-
-
-
-
3Gain-
MTMR6-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC17-
-
-
-
3Gain-
MUC20-
-
-
-
5Amp-
MUC4-
-
-
-
5Amp-
MUSTN1-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYCBP2-
-
-
-
1Loss-
MYCBPAP-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL5-
-
-
-
1Loss-
MYNN-
-
-
-
5Amp-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO5B-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAALADL2-
-
-
-
5Amp-
NACA2-
-
-
-
7Amp-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NARS-
-
-
-
3Gain-
NAT8L-
-
-
-
1Loss-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAXD-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAM1-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCBP2-
-
-
-
5Amp-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
5Amp-
NCKIPSD-
-
-
-
1Loss-
NCOA6p.S158L
Missense
SNP
0.443
2--
NCOR1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA5-
-
-
-
1Loss-
NDUFA9-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS4-
-
-
-
1Loss-
NECAP1-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4L-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NFATC1-
-
-
-
3Gain-
NFKBIZ-
-
-
-
5Amp-
NFRKB-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NGFR-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHLRC3-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NINJ2-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NIT2-
-
-
-
5Amp-
NKAPD1-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NLGN1p.R291P
Missense
SNP
0.124
5Amp-
NLGN2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMD3-
-
-
-
5Amp-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NME6-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
6Amp-
NOP14-
-
-
-
1Loss-
NOP2-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NPAT-
-
-
-
1Loss-
NPC1-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NRDCp.E918*
Nonsense
SNP
0.081
2--
NRG2-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP2-
-
-
-
1Loss-
NRROS-
-
-
-
5Amp-
NSA2-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSUN3-
-
-
-
5Amp-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTF4p.R209Q
Missense
SNP
0.454
2--
NTM-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTRK1-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP58-
-
-
-
1Loss-
NUP85-
-
-
-
5Amp-
NUP88-
-
-
-
1Loss-
NWD2-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE3-
-
-
-
5Amp-
NXPE4-
-
-
-
1Loss-
NXPH3-
-
-
-
3Gain-
NYAP2-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSL1-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
ODAM-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLR1-
-
-
-
1Loss-
ONECUT2-
-
-
-
3Gain-
OPA1-
-
-
-
4Gain-
OPCML-
-
-
-
1Loss-
OPTNp.D220H
Missense
SNP
0.478
2--
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR4D1-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5-
-
-
-
1Loss-
OR5AC2-
-
-
-
5Amp-
OR5H1-
-
-
-
5Amp-
OR5H14-
-
-
-
5Amp-
OR5H15-
-
-
-
5Amp-
OR5H2-
-
-
-
5Amp-
OR5H6-
-
-
-
5Amp-
OR5K1-
-
-
-
5Amp-
OR5K2-
-
-
-
5Amp-
OR5K3-
-
-
-
5Amp-
OR5K4-
-
-
-
5Amp-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6T1-
-
-
-
1Loss-
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-
OSBPL10-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSTN-
-
-
-
4Gain-
OTOL1-
-
-
-
5Amp-
OTOP1-
-
-
-
1Loss-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OVCH1-
-
-
-
1Loss-
OXCT2p.R278L
Missense
SNP
0.548
2--
OXGR1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY1-
-
-
-
5Amp-
P2RY12-
-
-
-
5Amp-
P2RY13-
-
-
-
5Amp-
P2RY14-
-
-
-
5Amp-
P3H2-
-
-
-
4Gain-
P3H3-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPC1p.A154G
p.T147M
Missense
Missense
SNP
SNP
0.182
0.156
2--
PABPC3p.Q172R
p.P191T
p.I195V
Missense
Missense
Missense
SNP
SNP
SNP
0.296
0.318
0.294
1Loss-
PACRGL-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAIP2-
-
-
-
1Loss-
PAK2-
-
-
-
5Amp-
PAK5p.S364L
Missense
SNP
0.434
2--
PAN3-
-
-
-
1Loss-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PARD6G-
-
-
-
3Gain-
PARL-
-
-
-
3Gain-
PARP11-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX3-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA4p.P61L
Missense
SNP
0.831
2--
PCDHA8p.P61L
Missense
SNP
0.188
2--
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCGF3-
-
-
-
1Loss-
PCID2-
-
-
-
3Gain-
PCNP-
-
-
-
5Amp-
PCP4L1-
-
-
-
3Gain-
PCSK7-
-
-
-
1Loss-
PCTP-
-
-
-
3Gain-
PCYT1A-
-
-
-
5Amp-
PDCD10-
-
-
-
5Amp-
PDCD1LG2-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE3A-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6B-
-
-
-
1Loss-
PDE6H-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDGFD-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDK2-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDZD3-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
0Del-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
5Amp-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGR-
-
-
-
1Loss-
PHB-
-
-
-
3Gain-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC3-
-
-
-
5Amp-
PHF11-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
3Gain-
PHOSPHO1-
-
-
-
3Gain-
PHOX2B-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS2-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIGG-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIGX-
-
-
-
5Amp-
PIGZ-
-
-
-
5Amp-
PIH1D2-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3CA-
-
-
-
5Amp-
PIK3R1-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITPNC1-
-
-
-
6Amp-
PITPNM3-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKNOX2-
-
-
-
1Loss-
PKP2-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCD4-
-
-
-
1Loss-
PLCH1-
-
-
-
5Amp-
PLCL2-
-
-
-
1Loss-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
5Amp-
PLD2-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEKHA5-
-
-
-
1Loss-
PLEKHG6-
-
-
-
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLET1-
-
-
-
1Loss-
PLGRKT-
-
-
-
3Gain-
PLK2-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLSCR3-
-
-
-
1Loss-
PLXNB1-
-
-
-
1Loss-
PMAIP1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNKD-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODNp.R475C
Missense
SNP
0.459
2--
POGZ-
-
-
-
3Gain-
POLG2-
-
-
-
4Gain-
POLI-
-
-
-
3Gain-
POLK-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLR1D-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMP-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POT1-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPFIBP1-
-
-
-
1Loss-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1L-
-
-
-
5Amp-
PPM1M-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R11p.R68Q
Missense
SNP
0.406
2--
PPP1R2-
-
-
-
5Amp-
PPP1R3A-
-
-
-
1Loss-
PPP1R9B-
-
-
-
3Gain-
PPP2R1B-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
3Gain-
PQLC2L-
-
-
-
5Amp-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRDM10-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKAG3-
-
-
-
1Loss-
PRKAR1A-
-
-
-
6Amp-
PRKAR2A-
-
-
-
1Loss-
PRKCA-
-
-
-
4Gain-
PRKCD-
-
-
-
1Loss-
PRKCI-
-
-
-
5Amp-
PRMT8-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROS1-
-
-
-
5Amp-
PROSER1-
-
-
-
1Loss-
PROZ-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR11-
-
-
-
3Gain-
PRR27-
-
-
-
1Loss-
PRR29-
-
-
-
4Gain-
PRR4-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PSAPL1-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMC5-
-
-
-
4Gain-
PSMD12-
-
-
-
6Amp-
PSMD2-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSPC1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTHLH-
-
-
-
1Loss-
PTMS-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN6-
-
-
-
1Loss-
PTPRD-
-
-
-
3Gain-
PTPRG-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRO-
-
-
-
1Loss-
PTPRZ1-
-
-
-
1Loss-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PTX3-
-
-
-
5Amp-
PUM3-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
PYDC2-
-
-
-
4Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYROXD1-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB20-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB27B-
-
-
-
3Gain-
RAB28-
-
-
-
1Loss-
RAB37-
-
-
-
3Gain-
RAB39A-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD51AP1-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD52-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RANBP6-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
5Amp-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
5Amp-
RASA1-
-
-
-
1Loss-
RASA3-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RAX-
-
-
-
3Gain-
RB1-
-
-
-
1Loss-
RBFA-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCL1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
RECQL-
-
-
-
1Loss-
RECQL5-
-
-
-
5Amp-
RELCH-
-
-
-
3Gain-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
REP15-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
RETREG2-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
4Gain-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX3-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS9-
-
-
-
4Gain-
RHBDD1-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHNO1-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMKLB-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIOX2-
-
-
-
5Amp-
RIT1-
-
-
-
3Gain-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMC1-
-
-
-
1Loss-
RN7SK-
-
-
-
NDNDAL139099.4--RN7SK
RN7SL1--RN7SK
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP62-
-
-
-
NDNDRN7SKP80--RN7SKP62
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP80-
-
-
-
NDNDRN7SKP80--RN7SKP62
RN7SL1-
-
-
-
NDNDRN7SL1--RN7SK
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF13-
-
-
-
5Amp-
RNF133-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
5Amp-
RNF17-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF6-
-
-
-
1Loss-
RNFT1-
-
-
-
3Gain-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPE-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL21-
-
-
-
1Loss-
RPL22L1-
-
-
-
5Amp-
RPL24-
-
-
-
5Amp-
RPL26-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL35A-
-
-
-
5Amp-
RPL37A-
-
-
-
1Loss-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
4Gain-
RPL9-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS6KB1-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP9-
-
-
-
1Loss-
RSAD1-
-
-
-
3Gain-
RSRC1-
-
-
-
5Amp-
RTP1-
-
-
-
4Gain-
RTP2-
-
-
-
4Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
4Gain-
RTTN-
-
-
-
3Gain-
RUBCN-
-
-
-
5Amp-
RUBCNL-
-
-
-
1Loss-
RUFY3p.L123V
Missense
SNP
0.424
2--
RUFY4-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RXFP2-
-
-
-
1Loss-
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-
S100P-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SALL3-
-
-
-
3Gain-
SAMD14-
-
-
-
3Gain-
SAMD7-
-
-
-
5Amp-
SAP18-
-
-
-
1Loss-
SAP30BP-
-
-
-
5Amp-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCHIP1-
-
-
-
5Amp-
SCIMP-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
4Gain-
SCN4B-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCPEP1-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK2-
-
-
-
3Gain-
SEC11C-
-
-
-
3Gain-
SEC13-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC62-
-
-
-
5Amp-
SEL1L3-
-
-
-
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOT-
-
-
-
5Amp-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
5Amp-
SENP7-
-
-
-
5Amp-
SEPSECS-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
5Amp-
SERP2-
-
-
-
1Loss-
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINI1-
-
-
-
5Amp-
SERPINI2-
-
-
-
5Amp-
SERTM1-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SGCA-
-
-
-
3Gain-
SGCG-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH3BP2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHISA2-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHOX2-
-
-
-
5Amp-
SHQ1-
-
-
-
1Loss-
SI-
-
-
-
5Amp-
SIAE-
-
-
-
1Loss-
SIAH2-
-
-
-
5Amp-
SIAH3-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGLEC15-
-
-
-
3Gain-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SKA1-
-
-
-
3Gain-
SKA2-
-
-
-
3Gain-
SKA3-
-
-
-
1Loss-
SKIL-
-
-
-
5Amp-
SKOR2-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC15A1-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
6Amp-
SLC18A2-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
3Gain-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A19-
-
-
-
5Amp-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC26A1-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC2A14-
-
-
-
1Loss-
SLC2A2-
-
-
-
5Amp-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC33A1-
-
-
-
5Amp-
SLC34A2-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B1-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A8p.Q256E
Missense
SNP
0.317
2--
SLC4A9-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
5Amp-
SLC52A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLC7A14-
-
-
-
5Amp-
SLC9A3R1-
-
-
-
3Gain-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
5Amp-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7-
-
-
-
3Gain-
SMAD9-
-
-
-
1Loss-
SMARCA2-
-
-
-
3Gain-
SMARCAL1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMARCD2-
-
-
-
4Gain-
SMC4-
-
-
-
5Amp-
SMCO1-
-
-
-
5Amp-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCO4-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG8-
-
-
-
3Gain-
SMIM10L1-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
3Gain-
SMIM4-
-
-
-
1Loss-
SMIM5-
-
-
-
5Amp-
SMIM6-
-
-
-
5Amp-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMURF2-
-
-
-
4Gain-
SNAPIN-
-
-
-
3Gain-
SNF8-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SOCS6-
-
-
-
3Gain-
SOD3-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX5-
-
-
-
1Loss-
SOX9-
-
-
-
3Gain-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SPA17-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAG16-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAG9-
-
-
-
3Gain-
SPAM1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
5Amp-
SPATA19-
-
-
-
1Loss-
SPATA20-
-
-
-
3Gain-
SPATA24-
-
-
-
1Loss-
SPATA46-
-
-
-
3Gain-
SPATA6L-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEG-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPOP-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR2G-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTSSB-
-
-
-
5Amp-
SPX-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRGAP2B-
-
-
-
3Gain-
SRGAP3-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRSF1-
-
-
-
3Gain-
SRSF8-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSPN-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSR3-
-
-
-
5Amp-
SST-
-
-
-
4Gain-
SSTR2-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST3GAL6-
-
-
-
5Amp-
ST6GAL1-
-
-
-
4Gain-
ST7-
-
-
-
1Loss-
ST8SIA1-
-
-
-
1Loss-
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD6-
-
-
-
3Gain-
STATH-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STK38L-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STRADA-
-
-
-
4Gain-
STRAP-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
5Amp-
STX8-
-
-
-
1Loss-
STXBP4-
-
-
-
3Gain-
STYK1-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
5Amp-
SUGT1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMO2-
-
-
-
5Amp-
SUPT20Hp.Q408*
Nonsense
SNP
1.000
1Loss-
SUPT4H1-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SYCP2-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYNJ1p.E1524Q
Missense
SNP
0.473
2--
SYNPR-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
TAC4-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACO1-
-
-
-
4Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGAPp.R666Q
Missense
SNP
0.410
2--
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANC2-
-
-
-
7Amp-
TAPBPL-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TATDN2-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D19-
-
-
-
1Loss-
TBC1D23-
-
-
-
5Amp-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBL1XR1-
-
-
-
5Amp-
TBRG1-
-
-
-
1Loss-
TBX2-
-
-
-
7Amp-
TBX4-
-
-
-
7Amp-
TCAIM-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCF4-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCTA-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
5Amp-
TDGF1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD3-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TEAD4-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TES-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX14-
-
-
-
3Gain-
TEX2-
-
-
-
4Gain-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
1Loss-
TEX52-
-
-
-
1Loss-
TFDP1-
-
-
-
3Gain-
TFEC-
-
-
-
1Loss-
TFG-
-
-
-
5Amp-
TFRC-
-
-
-
5Amp-
TGDS-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIMM21-
-
-
-
3Gain-
TIMM8B-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TIPARP-
-
-
-
5Amp-
TIRAP-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLK2-
-
-
-
7Amp-
TLR1-
-
-
-
1Loss-
TLR10p.E704K
Missense
SNP
1.000
1Loss-
TLR6-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM4SF19-
-
-
-
5Amp-
TM4SF19-TCTEX1D2-
-
-
-
5Amp-
TM4SF20-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMCO1-
-
-
-
3Gain-
TMCO3-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMEM100-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM123-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM168-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM198-
-
-
-
1Loss-
TMEM207-
-
-
-
4Gain-
TMEM212-
-
-
-
5Amp-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM241-
-
-
-
1Loss-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
5Amp-
TMEM45A-
-
-
-
5Amp-
TMEM45B-
-
-
-
1Loss-
TMEM52B-
-
-
-
1Loss-
TMEM79-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM92-
-
-
-
3Gain-
TMEM94-
-
-
-
5Amp-
TMEM95-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMTC1-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMX3-
-
-
-
3Gain-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
1Loss-
TNFSF10-
-
-
-
5Amp-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNIK-
-
-
-
5Amp-
TNIP2-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
5Amp-
TNNC1-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNS1-
-
-
-
1Loss-
TOB1-
-
-
-
3Gain-
TOLLIP-
-
-
-
3Gain-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOMM70-
-
-
-
5Amp-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP63-
-
-
-
4Gain-
TPD52L3-
-
-
-
3Gain-
TPI1-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPP2-
-
-
-
1Loss-
TPRG1-
-
-
-
4Gain-
TPT1-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRA2B-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
3Gain-
TRAPPC4-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRIM13-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM37-
-
-
-
3Gain-
TRIM46-
-
-
-
3Gain-
TRIM47-
-
-
-
5Amp-
TRIM59-
-
-
-
5Amp-
TRIM71-
-
-
-
1Loss-
TRIP12-
-
-
-
1Loss-
TRMT10C-
-
-
-
5Amp-
TRMT44-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TRPC4-
-
-
-
1Loss-
TRPC6-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
2-TRPV3--AP005135.1
TRPV6p.D267N
Missense
SNP
0.437
2--
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
5Amp-
TSEN2-
-
-
-
1Loss-
TSEN54-
-
-
-
5Amp-
TSHZ1-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN12-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPOAP1-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTC12-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC24-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTYH2-
-
-
-
3Gain-
TUBA3C-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBD1-
-
-
-
3Gain-
TUBGCP3-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TULP3-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4A-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2L5-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2Z-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBXN7-
-
-
-
5Amp-
UCHL1-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCK2-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFM1-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
3Gain-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UNC13D-
-
-
-
5Amp-
UNC80-
-
-
-
1Loss-
UNK-
-
-
-
5Amp-
UPF3A-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH1G-
-
-
-
3Gain-
USP12-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP37-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP18-
-
-
-
3Gain-
UTS2B-
-
-
-
4Gain-
UVSSA-
-
-
-
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VANGL2-
-
-
-
3Gain-
VAX1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VEPH1-
-
-
-
5Amp-
VEZF1-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VLDLR-
-
-
-
3Gain-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VN1R1-
-
-
-
3Gain-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM5-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWF-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC1-
-
-
-
3Gain-
WASL-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP2-
-
-
-
5Amp-
WBP4-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
5Amp-
WDR53-
-
-
-
5Amp-
WDR55-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR62p.E915Q
Missense
SNP
0.426
2--
WDR7-
-
-
-
3Gain-
WDR82-
-
-
-
1Loss-
WFIKKN2-
-
-
-
3Gain-
WFS1-
-
-
-
1Loss-
WIPI1-
-
-
-
6Amp-
WNK1-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT5B-
-
-
-
3Gain-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XPC-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XXYLT1-
-
-
-
5Amp-
XYLB-
-
-
-
1Loss-
XYLT2-
-
-
-
3Gain-
YAP1-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YPEL2-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
3Gain-
ZAR1-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
5Amp-
ZBED3-
-
-
-
1Loss-
ZBTB11-
-
-
-
5Amp-
ZBTB16-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZCCHC2-
-
-
-
3Gain-
ZCCHC4-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC19-
-
-
-
5Amp-
ZDHHC20-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZFAND2B-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZIK1-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT3-
-
-
-
5Amp-
ZMYM2-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZNF100-
-
-
-
3Gain-
ZNF134-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF154-
-
-
-
3Gain-
ZNF160-
-
-
-
3Gain-
ZNF17-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF208-
-
-
-
3Gain-
ZNF211-
-
-
-
3Gain-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
3Gain-
ZNF253-
-
-
-
3Gain-
ZNF254-
-
-
-
3Gain-
ZNF256-
-
-
-
3Gain-
ZNF257-
-
-
-
3Gain-
ZNF277-
-
-
-
1Loss-
ZNF28-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF30p.E17Q
Missense
SNP
0.467
2--
ZNF304-
-
-
-
3Gain-
ZNF320-
-
-
-
3Gain-
ZNF347-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF384-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF407-
-
-
-
3Gain-
ZNF415-
-
-
-
3Gain-
ZNF416-
-
-
-
3Gain-
ZNF417-
-
-
-
3Gain-
ZNF418-
-
-
-
3Gain-
ZNF419-
-
-
-
3Gain-
ZNF429-
-
-
-
3Gain-
ZNF43-
-
-
-
3Gain-
ZNF430-
-
-
-
3Gain-
ZNF431-
-
-
-
3Gain-
ZNF445-
-
-
-
1Loss-
ZNF460-
-
-
-
3Gain-
ZNF462p.R938T
Missense
SNP
0.567
2--
ZNF468-
-
-
-
3Gain-
ZNF486-
-
-
-
3Gain-
ZNF492-
-
-
-
3Gain-
ZNF493-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
3Gain-
ZNF516-
-
-
-
3Gain-
ZNF518B-
-
-
-
1Loss-
ZNF530-
-
-
-
3Gain-
ZNF532-
-
-
-
3Gain-
ZNF543-
-
-
-
3Gain-
ZNF547-
-
-
-
3Gain-
ZNF548-
-
-
-
3Gain-
ZNF549-
-
-
-
3Gain-
ZNF550-
-
-
-
3Gain-
ZNF551-
-
-
-
3Gain-
ZNF552-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF586-
-
-
-
3Gain-
ZNF587-
-
-
-
3Gain-
ZNF587B-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF600-
-
-
-
3Gain-
ZNF606-
-
-
-
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623p.T34M
Missense
SNP
0.417
2--
ZNF624-
-
-
-
1Loss-
ZNF626-
-
-
-
3Gain-
ZNF639-
-
-
-
5Amp-
ZNF652-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF66-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF665-
-
-
-
3Gain-
ZNF671-
-
-
-
3Gain-
ZNF675-
-
-
-
3Gain-
ZNF676-
-
-
-
3Gain-
ZNF677-
-
-
-
3Gain-
ZNF681-
-
-
-
3Gain-
ZNF682-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF701-
-
-
-
3Gain-
ZNF705A-
-
-
-
1Loss-
ZNF708-
-
-
-
3Gain-
ZNF713p.E18Kfs*2
Frame_Shift_Del
DEL
0.370
2--
ZNF714-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF723-
-
-
-
3Gain-
ZNF724-
-
-
-
3Gain-
ZNF726-
-
-
-
3Gain-
ZNF728-
-
-
-
3Gain-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
3Gain-
ZNF732-
-
-
-
1Loss-
ZNF737-
-
-
-
3Gain-
ZNF749-
-
-
-
3Gain-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF772-
-
-
-
3Gain-
ZNF773-
-
-
-
3Gain-
ZNF776-
-
-
-
3Gain-
ZNF799p.K353Q
Missense
SNP
0.074
2--
ZNF805-
-
-
-
3Gain-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF814-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF85-
-
-
-
3Gain-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF888-
-
-
-
3Gain-
ZNF90-
-
-
-
3Gain-
ZNF91-
-
-
-
3Gain-
ZNF93-
-
-
-
3Gain-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
3Gain-
ZPLD1-
-
-
-
5Amp-
ZPR1-
-
-
-
1Loss-
ZSCAN4-
-
-
-
3Gain-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-