PDMR-883617~216-R~KGJW88Z65-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A4GALT-
-
-
-
3Gain-
AAMP-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
ABCA12-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABI1-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC007998.2-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010326.2-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC074143.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC239799.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
3Gain-
ACAA2-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACBD5-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACO2-
-
-
-
3Gain-
ACOX3-
-
-
-
1Loss-
ACR-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTRT2-
-
-
-
3Gain-
ADA2-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM8-
-
-
-
3Gain-
ADAMTS18-
-
-
-
1Loss-
ADARB2-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCYAP1-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
3Gain-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADM2-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
3Gain-
ADRA2A-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADSL-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGMO-
-
-
-
1Loss-
AGR2-
-
-
-
1Loss-
AGR3-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AIFM3-
-
-
-
3Gain-
AKAIN1-
-
-
-
1Loss-
AKAP12p.R814*
Nonsense
SNP
0.212
2--
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL117348.2-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL157392.5-
-
-
-
3Gain-
AL355315.1-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALG12-
-
-
-
3Gain-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
ANHX-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
1Loss-
ANKRD16-
-
-
-
3Gain-
ANKRD2-
-
-
-
1Loss-
ANKRD26-
-
-
-
3Gain-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
1Loss-
ANKRD54-
-
-
-
3Gain-
ANKRD62-
-
-
-
1Loss-
ANKZF1-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
AP000350.4-
-
-
-
3Gain-
AP1B1-
-
-
-
3Gain-
AP1G1-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP4B1p.A83P
Missense
SNP
0.529
2--
APBB1IP-
-
-
-
3Gain-
APCDD1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP4-
-
-
-
3Gain-
ARFGAP3-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP21-
-
-
-
3Gain-
ARHGAP28-
-
-
-
1Loss-
ARHGAP8-
-
-
-
3Gain-
ARHGEF16-
-
-
-
3Gain-
ARHGEF33-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL5B-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARSA-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
AS3MT-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
3Gain-
ASB18-
-
-
-
1Loss-
ASCC2-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASPHD2-
-
-
-
3Gain-
ASXL3-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF4-
-
-
-
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG4B-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATL2-
-
-
-
1Loss-
ATMp.M2405L
Missense
SNP
1.000
2--
ATMIN-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
3Gain-
ATP5MD-
-
-
-
1Loss-
ATP5MGL-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATRXp.S748Y
Missense
SNP
1.000
NDND-
ATXN10-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
B3GALT5-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
3Gain-
BAMBI-
-
-
-
3Gain-
BANP-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BCAR1-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BCR-
-
-
-
3Gain-
BCS1L-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND7-
-
-
-
3Gain-
BFSP1p.A298T
Missense
SNP
0.531
2--
BID-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BIN3-
-
-
-
1LossBIN3--GFRA2
BIRC8-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BMI1-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BNIP3-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPIFC-
-
-
-
3Gain-
BRCA2p.S489C
Missense
SNP
0.502
2--
BRD1-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BTAF1-
-
-
-
3Gain-
BTBD16-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BZW2-
-
-
-
1Loss-
C10orf113-
-
-
-
3Gain-
C10orf120-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
3Gain-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C1GALT1C1L-
-
-
-
1Loss-
C1orf174-
-
-
-
3Gain-
C1QL3-
-
-
-
3Gain-
C1QTNF6-
-
-
-
3Gain-
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD2-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C2orf91-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABP7-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNA1I-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNB2-
-
-
-
3Gain-
CACNG2-
-
-
-
3Gain-
CACUL1-
-
-
-
1Loss-
CALB2-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALY-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAPN10-
-
-
-
1Loss-
CAPN2-
-
-
-
1Loss-
CAPN8-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CARD10-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CASC10-
-
-
-
3Gain-
CASP7-
-
-
-
1Loss-
CASTOR1-
-
-
-
3Gain-
CATIP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CC2D2B-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC134-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC157-
-
-
-
3Gain-
CCDC172-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC185-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC3-
-
-
-
3Gain-
CCDC68-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCT8L2-
-
-
-
3Gain-
CD177-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC42EP1-
-
-
-
3Gain-
CDC42EP3-
-
-
-
1Loss-
CDC45-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDK10-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDPF1-
-
-
-
3Gain-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CECR2-
-
-
-
3Gain-
CELF2-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELSR1-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPM-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CEP104-
-
-
-
3Gain-
CEP192-
-
-
-
1Loss-
CEP55-
-
-
-
3Gain-
CEP76-
-
-
-
1Loss-
CERK-
-
-
-
3Gain-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP46-
-
-
-
3Gain-
CFAP53-
-
-
-
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP65-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CHADL-
-
-
-
3Gain-
CHAF1B-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHD8p.M884I
Missense
SNP
0.545
2--
CHD9-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST9-
-
-
-
3Gain-
CHTF8-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CLCA1p.A459T
Missense
SNP
0.390
2--
CLDN14-
-
-
-
1Loss-
CLDN5-
-
-
-
3Gain-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLTCL1-
-
-
-
3Gain-
CLUL1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNIH3-
-
-
-
1Loss-
CNIH4-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNTNAP4-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL15A1-
-
-
-
0Del-
COL17A1-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL6A3-
-
-
-
1Loss-
COLEC12-
-
-
-
1Loss-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMT-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COQ9-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX4I1-
-
-
-
1Loss-
COX7A2L-
-
-
-
1Loss-
CPEB3-
-
-
-
3Gain-
CPLX4-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPT1B-
-
-
-
3Gain-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRELD2-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CROCC2-
-
-
-
1Loss-
CRTAC1-
-
-
-
1Loss-
CRYAA-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CSDC2-
-
-
-
3Gain-
CSF2RB-
-
-
-
3Gain-
CSMD3-
-
-
-
3Gain-
CSNK1E-
-
-
-
3Gain-
CSNK2A2-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTBP2-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CUBN-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CX3CL1-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R3-
-
-
-
3Gain-
CYBA-
-
-
-
1Loss-
CYLD-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP26A1-
-
-
-
3Gain-
CYP26C1-
-
-
-
3Gain-
CYP27A1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2E1-
-
-
-
1Loss-
CYTH4-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX17-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEGS1-
-
-
-
1Loss-
DENND6B-
-
-
-
3Gain-
DEPDC5-
-
-
-
3Gain-
DERL3-
-
-
-
3Gain-
DES-
-
-
-
1Loss-
DESI1-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHTKD1-
-
-
-
3Gain-
DHX32-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DHX57-
-
-
-
1Loss-
DIP2C-
-
-
-
3Gain-
DIS3L2-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DMBT1-
-
-
-
1Loss-
DMC1-
-
-
-
3Gain-
DMTN-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAH14-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB7-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DNER-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNPEP-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPRX-
-
-
-
1Loss-
DPYSL4-
-
-
-
3Gain-
DRC7-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG1-
-
-
-
3Gain-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAM-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTNBp.R411L
Missense
SNP
0.488
2--
DTYMK-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUSP18-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
EBF3-
-
-
-
1Loss-
EBLN1-
-
-
-
3Gain-
EBLN2-
-
-
-
1Loss-
ECEL1-
-
-
-
1Loss-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EFCAB6-
-
-
-
3Gain-
EFHD1-
-
-
-
1Loss-
EIF2AK2-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3D-
-
-
-
3Gain-
EIF3L-
-
-
-
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELFN2-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMID1-
-
-
-
3Gain-
EMILIN2-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
ENAH-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENKUR-
-
-
-
3Gain-
ENO4-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENTHD1-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EP300-
-
-
-
3Gain-
EPB41L3-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHX1-
-
-
-
1Loss-
ERBB4-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESPNL-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESS2-
-
-
-
3Gain-
ETS2-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5p.S196L
Missense
SNP
0.652
2--
EWSR1-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC6-
-
-
-
3Gain-
EXOSC1-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM118A-
-
-
-
3Gain-
FAM124B-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM192A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
3Gain-
FAM204A-
-
-
-
1Loss-
FAM208B-
-
-
-
3Gain-
FAM210A-
-
-
-
1Loss-
FAM227A-
-
-
-
3Gain-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM83F-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FBH1-
-
-
-
3Gain-
FBLN1-
-
-
-
3Gain-
FBXL15-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO28-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO7-
-
-
-
3Gain-
FBXW4-
-
-
-
1Loss-
FCGR1A-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEV-
-
-
-
1Loss-
FFAR4-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP3-
-
-
-
3Gain-
FGFR2-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FMO5-
-
-
-
1Loss-
FN1-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXRED2-
-
-
-
3Gain-
FPR3-
-
-
-
1Loss-
FRA10AC1-
-
-
-
3Gain-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD4A-
-
-
-
3Gain-
FRMD4B-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
GAB4-
-
-
-
3Gain-
GABARAPL2-
-
-
-
1Loss-
GAD2-
-
-
-
3Gain-
GAL3ST1-
-
-
-
3Gain-
GAL3ST2-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT12-
-
-
-
0Del-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GAREM1-
-
-
-
3Gain-
GAREM2p.S502I
Missense
SNP
0.548
2--
GAS2L1-
-
-
-
3Gain-
GAS8-
-
-
-
1Loss-
GATA3-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCAT-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDI2-
-
-
-
3Gain-
GEMIN6-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFRA2-
-
-
-
1LossBIN3--GFRA2
GGA1-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGTLC2-
-
-
-
3Gain-
GIGYF2-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLRX3-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAL-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GOLGA7B-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GPAM-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPBAR1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPR158-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GRAMD4-
-
-
-
3Gain-
GRAP2-
-
-
-
3Gain-
GREB1L-
-
-
-
3Gain-
GRK3-
-
-
-
3Gain-
GRK5-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSC2-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GTPBP1-
-
-
-
3Gain-
GTPBP4-
-
-
-
3Gain-
GTSE1-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
HAAO-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
3Gain-
HAO1-
-
-
-
3Gain-
HAS3-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HDAC10-
-
-
-
3Gain-
HDAC4-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD5-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HEATR3-
-
-
-
1Loss-
HEATR5B-
-
-
-
1Loss-
HECTD2-
-
-
-
3Gain-
HELLS-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HES6-
-
-
-
1Loss-
HGF-
-
-
-
3Gain-
HHEX-
-
-
-
3Gain-
HIC2-
-
-
-
3Gain-
HIF1AN-
-
-
-
1Loss-
HIRA-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
1Loss-
HIST2H2AA4-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
1Loss-
HIST2H3A-
-
-
-
1Loss-
HIST2H3C-
-
-
-
1Loss-
HIST2H3D-
-
-
-
1Loss-
HIST2H3PS2-
-
-
-
1Loss-
HIST2H4A-
-
-
-
1Loss-
HIST2H4B-
-
-
-
1Loss-
HJURP-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLCS-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HMGXB4-
-
-
-
3Gain-
HMOX1-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF4Gp.R75C
Missense
SNP
0.514
2--
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPLL-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HORMAD2-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS4-
-
-
-
3Gain-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRASp.G12C
Missense
SNP
0.505
2--
HRH4-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF2BP-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
3Gain-
HTR2B-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HYDIN-
-
-
-
1Loss-
IDE-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IFT27-
-
-
-
3Gain-
IGFBP2-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLV10-54-
-
-
-
3Gain-
IGSF5-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL15RA-
-
-
-
3Gain-
IL16p.S996L
Missense
SNP
0.559
2--
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17REL-
-
-
-
3Gain-
IL2RA-
-
-
-
3Gain-
IL2RB-
-
-
-
3Gain-
IL34-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
3Gain-
INA-
-
-
-
1Loss-
INCENPp.R541H
Missense
SNP
0.727
2--
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP5A-
-
-
-
3Gain-
INPP5D-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
3Gain-
INSYN2-
-
-
-
1Loss-
IQCA1-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRX1-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISPD-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA8-
-
-
-
3Gain-
ITIH1-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITM2C-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP3-
-
-
-
3Gain-
JOSD1-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ4-
-
-
-
3Gain-
KCNJ6-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCTD1-
-
-
-
3Gain-
KCTD17-
-
-
-
3Gain-
KCTD19-
-
-
-
1Loss-
KDELR3-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KIAA0232-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA0930-
-
-
-
3Gain-
KIAA1217-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
1Loss-
KIAA1671-
-
-
-
3Gain-
KIF11-
-
-
-
3Gain-
KIF1A-
-
-
-
1Loss-
KIFC3-
-
-
-
1Loss-
KIN-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7B-
-
-
-
3Gain-
KLHL14-
-
-
-
1Loss-
KLHL22-
-
-
-
3Gain-
KLHL30-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KNDC1-
-
-
-
3Gain-
KREMEN1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
3Gain-
L3MBTL4-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARP4B-
-
-
-
3Gain-
LBR-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCA5L-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LEFTY1-
-
-
-
1Loss-
LEFTY2-
-
-
-
1Loss-
LGALS1-
-
-
-
3Gain-
LGALS2-
-
-
-
3Gain-
LGI1-
-
-
-
3Gain-
LGI3-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LIF-
-
-
-
3Gain-
LIG4p.V652I
Missense
SNP
0.552
2--
LIMK2-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMF2-
-
-
-
3Gain-
LMOD3-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP5L-
-
-
-
3Gain-
LRRC27-
-
-
-
3Gain-
LRRC29-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC47-
-
-
-
3Gain-
LRRC72-
-
-
-
1Loss-
LRRC74B-
-
-
-
3Gain-
LRRC75B-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LZTR1-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MAF-
-
-
-
1Loss-
MAFF-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGI2-
-
-
-
3Gain-
MALRD1-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MANSC1p.Q308E
Missense
SNP
0.258
2--
MAP1LC3B-
-
-
-
1Loss-
MAP4K3-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
3Gain-
MAPRE2-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH5-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MASTL-
-
-
-
3Gain-
MB-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCHR1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MCM5-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MED15-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEI1-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MEOX2-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFNG-
-
-
-
3Gain-
MFSD13A-
-
-
-
1Loss-
MGAT3-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MIB1-
-
-
-
3Gain-
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
3Gain-
MIEF1-
-
-
-
3Gain-
MIF-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKX-
-
-
-
3Gain-
MLC1-
-
-
-
3Gain-
MLKL-
-
-
-
1Loss-
MLLT10-
-
-
-
3Gain-
MLPH-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMP11-
-
-
-
3Gain-
MMP15-
-
-
-
1Loss-
MMP17-
-
-
-
0Del-
MMP2-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MORC2-
-
-
-
3Gain-
MORC3-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MOV10L1-
-
-
-
3Gain-
MPHOSPH6-
-
-
-
1Loss-
MPP7-
-
-
-
3Gain-
MPPE1-
-
-
-
1Loss-
MPPED1-
-
-
-
3Gain-
MPST-
-
-
-
3Gain-
MRC1-
-
-
-
3Gain-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
0Del-
MRPL40-
-
-
-
3Gain-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRTFA-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTA3-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTFP1-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR3-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MYH9-
-
-
-
3Gain-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYO18B-
-
-
-
3Gain-
MYO3A-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYOF-
-
-
-
3Gain-
MYOM1-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NANOS1-
-
-
-
1Loss-
NAPG-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NBPF10-
-
-
-
1Loss-
NBPF12-
-
-
-
1Loss-
NBPF15-
-
-
-
1Loss-
NBPF19-
-
-
-
1Loss-
NBPF20-
-
-
-
1Loss-
NCAPH2-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCL-
-
-
-
1Loss-
NDC80-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA6-
-
-
-
3Gain-
NDUFAF7-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFV2-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NEBL-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEFH-
-
-
-
3Gain-
NEK4-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLRC2-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
3Gain-
NKD1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-2-
-
-
-
3Gain-
NLRC5-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NMT2-
-
-
-
3Gain-
NMUR1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NOL12-
-
-
-
3Gain-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPTXR-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NRAP-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSUN6-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT5-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP50-
-
-
-
3Gain-
NUP93-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NVL-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
ODF3B-
-
-
-
3Gain-
OGA-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OLAH-
-
-
-
3Gain-
ONECUT2-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPTN-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
ORC6-
-
-
-
1Loss-
OSBP2-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSM-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOS-
-
-
-
1Loss-
OTUD1-
-
-
-
3Gain-
OXER1-
-
-
-
1Loss-
P2RX6-
-
-
-
3Gain-
PABPN1L-
-
-
-
1Loss-
PACSIN2-
-
-
-
3Gain-
PANX2-
-
-
-
3Gain-
PAOX-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PASK-
-
-
-
1Loss-
PATZ1-
-
-
-
3Gain-
PAX2-
-
-
-
1Loss-
PAX3-
-
-
-
1Loss-
PCDH7-
-
-
-
3Gain-
PCGF5-
-
-
-
3Gain-
PCGF6-
-
-
-
1Loss-
PCLO-
-
-
-
3Gain-
PCP4-
-
-
-
1Loss-
PDCD1-
-
-
-
1Loss-
PDCD11-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDE6C-
-
-
-
3Gain-
PDE6D-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFB-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS1-
-
-
-
3Gain-
PDXP-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PECR-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PES1-
-
-
-
3Gain-
PEX26-
-
-
-
3Gain-
PFKFB3-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PGAM1-
-
-
-
1Loss-
PHETA2-
-
-
-
3Gain-
PHF21B-
-
-
-
3Gain-
PHF5A-
-
-
-
3Gain-
PHKB-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PICK1-
-
-
-
3Gain-
PID1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3IP1-
-
-
-
3Gain-
PIM3-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PISD-
-
-
-
3Gain-
PITPNB-
-
-
-
3Gain-
PITRM1-
-
-
-
3Gain-
PITX3-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL3-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKDREJ-
-
-
-
3Gain-
PKNOX1-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G3-
-
-
-
3Gain-
PLA2G6-
-
-
-
3Gain-
PLCB1-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD4-
-
-
-
1Loss-
PLCE1-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHH2-
-
-
-
1Loss-
PLEKHS1-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLXDC2-
-
-
-
3Gain-
PLXNA2p.T1571I
Missense
SNP
0.643
2--
PLXNB2-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMFBP1-
-
-
-
1Loss-
PMM1-
-
-
-
3Gain-
PNKD-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
POLDIP3-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3H-
-
-
-
3Gain-
POTEC-
-
-
-
1Loss-
PPARA-
-
-
-
3Gain-
PPIL2-
-
-
-
3Gain-
PPM1F-
-
-
-
3Gain-
PPP1R3C-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP2R1A-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
3Gain-
PPP3CC-
-
-
-
1Loss-
PPP4R1-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP6R2-
-
-
-
3Gain-
PPRC1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2Lp.T18K
Missense
SNP
0.351
2--
PRAME-
-
-
-
3Gain-
PRAMEF1-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRDM15-
-
-
-
1Loss-
PRDM16-
-
-
-
3Gain-
PRDM7-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PRKAB2-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKCQ-
-
-
-
3Gain-
PRKD3-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRODH-
-
-
-
3Gain-
PROK2-
-
-
-
1Loss-
PROSER2-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF4Bp.P359L
Missense
SNP
0.624
2--
PRR14L-
-
-
-
3Gain-
PRR26-
-
-
-
3Gain-
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRSS54-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRTFDC1-
-
-
-
3Gain-
PSAPL1-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA8-
-
-
-
3Gain-
PSMB10-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSMG1-
-
-
-
1Loss-
PSMG2-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTCHD3-
-
-
-
3Gain-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN2-
-
-
-
1Loss-
PTPRCp.S768L
Missense
SNP
0.693
2--
PTPRE-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PVALB-
-
-
-
3Gain-
PWWP2B-
-
-
-
3Gain-
PYCR2-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
QPCT-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
3Gain-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB31-
-
-
-
1Loss-
RAB36-
-
-
-
3Gain-
RABL2B-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RALBP1-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RANBP1-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANGAP1-
-
-
-
3Gain-
RASA3p.L621F
Missense
SNP
0.490
2--
RASD2-
-
-
-
3Gain-
RASL10A-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM20-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBP4-
-
-
-
3Gain-
RBX1-
-
-
-
3Gain-
REEP4-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
RETREG2-
-
-
-
1Loss-
RFPL1-
-
-
-
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFWD3-
-
-
-
1Loss-
RGL4-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS10-
-
-
-
1Loss-
RHBDD1-
-
-
-
1Loss-
RHBDD3-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIOK3-
-
-
-
3Gain-
RIPK4-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN2-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF215-
-
-
-
3Gain-
RNF225-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL3-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPS19BP1-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS5-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RRP7A-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH1-
-
-
-
1Loss-
RSPH14-
-
-
-
3Gain-
RSPRY1-
-
-
-
1Loss-
RSU1-
-
-
-
3Gain-
RTCB-
-
-
-
3Gain-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYR2p.R807*
Nonsense
SNP
0.667
2--
S100P-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMM50-
-
-
-
3Gain-
SBF1-
-
-
-
3Gain-
SCARF2-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCO2-
-
-
-
3Gain-
SCUBE1-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDR42E1-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC23IP-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEH1L-
-
-
-
1Loss-
SELENOM-
-
-
-
3Gain-
SELENOO-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEPHS1-
-
-
-
3Gain-
SEPT2-
-
-
-
1Loss-
SEPT3-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SERHL2-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPIND1-
-
-
-
3Gain-
SERPINE2-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SEZ6L-
-
-
-
3Gain-
SF3A1-
-
-
-
3Gain-
SF3B3-
-
-
-
1Loss-
SFI1-
-
-
-
3Gain-
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFSWAP-
-
-
-
0Del-
SFTPC-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSM1-
-
-
-
3Gain-
SGSM3-
-
-
-
3Gain-
SH3BGR-
-
-
-
1Loss-
SH3BP1-
-
-
-
3Gain-
SH3BP4-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHANK3-
-
-
-
3Gain-
SHCBP1-
-
-
-
1Loss-
SHISA8-
-
-
-
3Gain-
SHISAL1-
-
-
-
3Gain-
SHOC2-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIK1-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKIDA1-
-
-
-
3Gain-
SKOR2-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A8-
-
-
-
3Gain-
SLC18A2-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC25A1-
-
-
-
3Gain-
SLC25A17-
-
-
-
3Gain-
SLC25A18-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC27A5-
-
-
-
1Loss-
SLC2A11-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC35E4-
-
-
-
3Gain-
SLC35G1-
-
-
-
3Gain-
SLC35G4-
-
-
-
1Loss-
SLC37A1-
-
-
-
1Loss-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A12-
-
-
-
3Gain-
SLC39A14-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC5A1-
-
-
-
3Gain-
SLC5A4-
-
-
-
3Gain-
SLC6A2-
-
-
-
1Loss-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8A1-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMC1B-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMCHD1-
-
-
-
1Loss-
SMDT1-
-
-
-
3Gain-
SMIM1-
-
-
-
3Gain-
SMIM17-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP29-
-
-
-
3Gain-
SNED1-
-
-
-
1Loss-
SNORC-
-
-
-
1Loss-
SNRPD1-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNU13-
-
-
-
3Gain-
SNX20-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOSTDC1-
-
-
-
1Loss-
SOX10-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG6-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPCS1-
-
-
-
3Gain-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEG-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPIRE1-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SREBF2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
1Loss-
SRP9-
-
-
-
1Loss-
SRRD-
-
-
-
3Gain-
SRSF7-
-
-
-
1Loss-
SS18-
-
-
-
3Gain-
SSTR3-
-
-
-
3Gain-
ST13-
-
-
-
3Gain-
ST3GAL2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
3Gain-
STAM-
-
-
-
3Gain-
STARD6-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK19-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
3Gain-
STK36-
-
-
-
1Loss-
STN1-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SULT4A1-
-
-
-
3Gain-
SULT6B1-
-
-
-
1Loss-
SUN2-
-
-
-
3Gain-
SUSD2-
-
-
-
3Gain-
SUSD4-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE3-
-
-
-
3Gain-
SYN3-
-
-
-
3Gain-
SYNGR1-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
TAB1-
-
-
-
3Gain-
TACC2-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF3-
-
-
-
3Gain-
TAF4B-
-
-
-
3Gain-
TAF5-
-
-
-
1Loss-
TANGO2-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TBC1D10A-
-
-
-
3Gain-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D22A-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TCERG1L-
-
-
-
3Gain-
TCF20-
-
-
-
3Gain-
TCF25-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCN2-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEF-
-
-
-
3Gain-
TENT4B-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TEX33-
-
-
-
3Gain-
TEX36-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFIP11-
-
-
-
3Gain-
TGIF1-
-
-
-
1Loss-
THADA-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THNSL1-
-
-
-
3Gain-
THOC1-
-
-
-
1Loss-
THOC5-
-
-
-
3Gain-
THUMPD2-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMP3-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLL2-
-
-
-
1Loss-
TLR5-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TM4SF20-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMEM121B-
-
-
-
3Gain-
TMEM128-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM178A-
-
-
-
1Loss-
TMEM184B-
-
-
-
3Gain-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM198-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM211-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM236-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM63A-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS6-
-
-
-
3Gain-
TMX3-
-
-
-
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1Loss-
ZNF738-
-
-
-
1Loss-
ZNF74-
-
-
-
3Gain-
ZNF749-
-
-
-
1Loss-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF778-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF790-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF792-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF8-
-
-
-
1Loss-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF84-
-
-
-
1Loss-
ZNF841-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF850-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF891-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF3-
-
-
-
3Gain-
ZRANB1-
-
-
-
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-