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Results for "Zhou2022"

Variant Events: 23922

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
C6     AU2029301chr5:
41181456-41181456
GTintronic--Zhou2022 GE
POM121     1-0009-004chr7:
72400603-72400603
GAexonicnonsynonymous SNVNM_172020
NM_001257190
c.G434A
c.G434A
p.R145H
p.R145H
21.1-Zhou2022 GE
C6     AU2029301chr5:
41181458-41181458
TAintronic--Zhou2022 GE
ARL6IP4     AU2029301chr12:
123465758-123465761
AAAGAexonicnonframeshift deletionNM_001002251
NM_001002252
NM_001278378
NM_001278379
NM_001278380
NM_016638
NM_018694
c.625_627del
c.625_627del
c.625_627del
c.265_267del
c.73_75del
c.625_627del
c.625_627del
p.209_209del
p.209_209del
p.209_209del
p.89_89del
p.25_25del
p.209_209del
p.209_209del
--Zhou2022 GE
PDIA4     2-1645-003chr7:
148701283-148701283
AGexonicnonsynonymous SNVNM_004911c.T1541Cp.I514T17.9-Zhou2022 GE
SCN2A     14525.p1chr2:
166152367-166152367
GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G34A
c.G34A
c.G34A
p.D12N
p.D12N
p.D12N
13.34-Zhou2022 GE
SCN2A     ASDFI_732chr2:
166152578-166152578
AGexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.A245G
c.A245G
c.A245G
p.D82G
p.D82G
p.D82G
19.73-Zhou2022 GE
SCN2A     AU026Achr2:
166170231-166170231
GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1136A
c.G1136A
c.G1136A
p.R379H
p.R379H
p.R379H
35.0-Zhou2022 GE
SCN2A     DEASD_0143_001chr2:
166170231-166170231
GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1136A
c.G1136A
c.G1136A
p.R379H
p.R379H
p.R379H
35.0-Zhou2022 GE
CASZ1     AU2029302chr1:
10699875-10699875
GGAexonicframeshift insertionNM_001079843c.4403dupTp.F1468fs--Zhou2022 GE
SCN2A     10C109819chr2:
166183403-166183403
TTAexonicframeshift insertionNM_001040143
NM_001040142
NM_021007
c.2058_2059insA
c.2058_2059insA
c.2058_2059insA
p.S686fs
p.S686fs
p.S686fs
--Zhou2022 GE
LIMCH1     1-0010-003chr4:
41614613-41614613
ACintronic8.066-Zhou2022 GE
SCN2A     14280.p1chr2:
166201311-166201311
CTexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C2809T
c.C2809T
c.C2809T
p.R937C
p.R937C
p.R937C
29.0-Zhou2022 GE
SCN2A     NDAR_INVTZ957VTW_wes1chr2:
166201312-166201312
GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G2810A
c.G2810A
c.G2810A
p.R937H
p.R937H
p.R937H
33.0-Zhou2022 GE
SCN2A     11892.p1chr2:
166201379-166201379
CAexonicstopgainNM_001040143
NM_001040142
NM_021007
c.C2877A
c.C2877A
c.C2877A
p.C959X
p.C959X
p.C959X
42.0-Zhou2022 GE
SCN2A     11114.p1chr2:
166210819-166210819
GTexonicstopgainNM_001040143
NM_001040142
NM_021007
c.G3037T
c.G3037T
c.G3037T
p.G1013X
p.G1013X
p.G1013X
40.0-Zhou2022 GE
SCN2A     13544.p1chr2:
166231378-166231378
TCexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.T4156C
c.T4156C
c.T4156C
p.C1386R
p.C1386R
p.C1386R
15.44-Zhou2022 GE
SCN2A     13642.p1chr2:
166234111-166234111
CTexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C4259T
c.C4259T
c.C4259T
p.T1420M
p.T1420M
p.T1420M
28.0-Zhou2022 GE
SCN2A     DEASD_0262_001chr2:
166245137-166245137
ATsplicingsplicing12.35-Zhou2022 GE
DYNC1H1     1-0862-003chr14:
102493980-102493980
GAexonicnonsynonymous SNVNM_001376c.G9073Ap.E3025K36.0-Zhou2022 GE
PICK1     1-0862-003chr22:
38471106-38471106
CTexonicsynonymous SNVNM_001039583
NM_001039584
NM_012407
c.C1215T
c.C1215T
c.C1215T
p.P405P
p.P405P
p.P405P
-1.744E-5Zhou2022 GE
SLC8A3     AU2029302chr14:
70512801-70512801
TGexonicsynonymous SNVNM_182936
NM_001130417
NM_182932
NM_033262
NM_058240
NM_183002
c.A718C
c.A760C
c.A2629C
c.A2641C
c.A2638C
c.A2647C
p.R240R
p.R254R
p.R877R
p.R881R
p.R880R
p.R883R
--Zhou2022 GE
CCNT2     1-0010-005chr2:
135705380-135705380
ACexonicnonsynonymous SNVNM_001241
NM_058241
c.A614C
c.A614C
p.K205T
p.K205T
27.1-Zhou2022 GE
CASZ1     AU2029303chr1:
10699875-10699875
GGAexonicframeshift insertionNM_001079843c.4403dupTp.F1468fs--Zhou2022 GE
AMOT     2-1646-003 Complex Event; expand row to view variants  frameshift insertion, synonymous SNVNM_001113490
NM_133265
NM_001113490
NM_133265
c.2092_2093insAG
c.865_866insAG
c.T2094A
c.T867A
p.A698fs
p.A289fs
p.A698A
p.A289A
--Zhou2022 GE
Zhou2022 GE
C6orf99   1-0010-005chr6:
159316325-159316325
GAexonicnonsynonymous SNVNM_001195032
NM_001302839
NM_001302841
NM_001302840
c.G58A
c.G58A
c.G58A
c.G58A
p.V20I
p.V20I
p.V20I
p.V20I
6.112-Zhou2022 GE
SUPT6H     1-0010-005chr17:
27014407-27014407
GAexonicnonsynonymous SNVNM_003170c.G2924Ap.R975H24.82.472E-5Zhou2022 GE
SLC8A3     AU2029303chr14:
70512801-70512801
TGexonicsynonymous SNVNM_182936
NM_001130417
NM_182932
NM_033262
NM_058240
NM_183002
c.A718C
c.A760C
c.A2629C
c.A2641C
c.A2638C
c.A2647C
p.R240R
p.R254R
p.R877R
p.R881R
p.R880R
p.R883R
--Zhou2022 GE
PIGR     1-0871-003chr1:
207112510-207112510
GAexonicsynonymous SNVNM_002644c.C342Tp.I114I--Zhou2022 GE
LYSMD4     12820.p1chr15:
100272044-100272044
TCexonicnonsynonymous SNVNM_001284417
NM_001284418
NM_001284419
NM_152449
c.A161G
c.A161G
c.A73G
c.A73G
p.E54G
p.E54G
p.S25G
p.S25G
17.83-Zhou2022 GE
GAS1     1-0019-004chr9:
89561091-89561091
CTexonicnonsynonymous SNVNM_002048c.G604Ap.E202K8.499-Zhou2022 GE
RNF224     AU2035301chr9:
140123367-140123367
GAexonicsynonymous SNVNM_001190228c.G300Ap.P100P-2.0E-4Zhou2022 GE
KCNJ8     1-0019-004chr12:
21926515-21926515
AGexonicsynonymous SNVNM_004982c.T36Cp.Y12Y--Zhou2022 GE
UNC5B     AU2035301chr10:
73046444-73046444
ATsplicingsplicing22.0-Zhou2022 GE
ERC2     1-0882-003chr3:
56052950-56052950
GAexonicnonsynonymous SNVNM_015576c.C1751Tp.A584V13.842.497E-5Zhou2022 GE
RNF224     AU2035302chr9:
140123367-140123367
GAexonicsynonymous SNVNM_001190228c.G300Ap.P100P-2.0E-4Zhou2022 GE
UNC5B     AU2035302chr10:
73046444-73046444
ATsplicingsplicing22.0-Zhou2022 GE
OBSCN     AU2072302chr1:
228525007-228525007
CTexonicnonsynonymous SNVNM_001098623
NM_052843
NM_001271223
c.C16723T
c.C16723T
c.C19594T
p.R5575C
p.R5575C
p.R6532C
15.088.688E-5Zhou2022 GE
DNMT1     2-1696-003chr19:
10265387-10265387
GTexonicnonsynonymous SNVNM_001379
NM_001130823
c.C1659A
c.C1707A
p.H553Q
p.H569Q
15.29-Zhou2022 GE
CTNNA2     AU2075301chr2:
80808939-80808939
GAexonicnonsynonymous SNVNM_001282599
NM_001282600
NM_001164883
NM_001282597
NM_001282598
NM_004389
c.G1039A
c.G898A
c.G2002A
c.G2002A
c.G2104A
c.G2002A
p.A347T
p.A300T
p.A668T
p.A668T
p.A702T
p.A668T
21.38.351E-6Zhou2022 GE
SLC26A1     1-0896-003chr4:
985353-985353
GAexonicnonsynonymous SNVNM_022042
NM_134425
NM_213613
c.C139T
c.C139T
c.C139T
p.R47W
p.R47W
p.R47W
12.736.369E-5Zhou2022 GE
KIF3A     AU2075301chr5:
132051498-132051498
CTexonicsynonymous SNVNM_001300791
NM_001300792
NM_007054
c.G1080A
c.G1080A
c.G1080A
p.L360L
p.L360L
p.L360L
--Zhou2022 GE
TRIM66     AU2075301chr11:
8673346-8673346
CTsplicingsplicing22.3-Zhou2022 GE
TUBA3D     1-0028-003chr2:
132238327-132238327
GAintronic--Zhou2022 GE
RFTN1     1-0028-003chr3:
16475543-16475543
CTexonicsynonymous SNVNM_015150c.G147Ap.A49A-1.041E-5Zhou2022 GE
CPSF3     13311.p1chr2:
9588447-9588447
ACexonicnonsynonymous SNVNM_016207c.A1363Cp.T455P16.67-Zhou2022 GE
DVL1     1-0898-003chr1:
1275415-1275415
CTintronic--Zhou2022 GE
NOC2L     AC01-0062-01chr1:
881802-881802
CTexonicnonsynonymous SNVNM_015658c.G1783Ap.V595I16.591.66E-5Zhou2022 GE
KLHL17     09C87513chr1:
897739-897739
TCexonicnonsynonymous SNVNM_198317c.T716Cp.L239P15.16-Zhou2022 GE
WAC     1-0028-003chr10:
28903529-28903531
TCATexonicframeshift deletionNM_100486
NM_016628
NM_100264
c.1163_1164del
c.1472_1473del
c.1337_1338del
p.S388fs
p.S491fs
p.S446fs
--Zhou2022 GE
ATAD3B     UK10K_SKUSE5080252chr1:
1423250-1423250
CTexonicnonsynonymous SNVNM_001317238
NM_031921
c.C1084T
c.C1222T
p.L362F
p.L408F
13.49-Zhou2022 GE
F2     AU2075302chr11:
46751076-46751076
CTexonicnonsynonymous SNVNM_000506
NM_001311257
c.C1619T
c.C1571T
p.T540I
p.T524I
28.1-Zhou2022 GE
TMEM52     DEASD_0145_001chr1:
1849510-1849510
GCexonicnonsynonymous SNVNM_178545c.C441Gp.S147R10.77-Zhou2022 GE
SKI     08C78919chr1:
2234766-2234766
CTexonicstopgainNM_003036c.C1138Tp.R380X37.0-Zhou2022 GE
CHD5     DEASD_0125_001chr1:
6191718-6191718
GAexonicnonsynonymous SNVNM_015557c.C3235Tp.R1079W15.44-Zhou2022 GE
ACOT7     DEASD_0088_001chr1:
6420658-6420658
TCexonicnonsynonymous SNVNM_181865c.A55Gp.R19G5.9838.242E-6Zhou2022 GE
ZBTB48     AU117Achr1:
6642301-6642301
GAexonicnonsynonymous SNVNM_001278647
NM_001278648
NM_005341
c.G874A
c.G874A
c.G874A
p.E292K
p.E292K
p.E292K
21.58.246E-6Zhou2022 GE
RERE     AU113Achr1:
8418823-8418823
CTexonicnonsynonymous SNVNM_001042682
NM_001042681
NM_012102
c.G2110A
c.G3772A
c.G3772A
p.E704K
p.E1258K
p.E1258K
35.0-Zhou2022 GE
VPS13D     DEASD_0068_001chr1:
12336770-12336770
CTexonicnonsynonymous SNVNM_015378
NM_018156
c.C3125T
c.C3125T
p.S1042F
p.S1042F
18.67-Zhou2022 GE
AADACL4     09C95914chr1:
12726725-12726725
CGexonicsynonymous SNVNM_001013630c.C1203Gp.V401V--Zhou2022 GE
KAZN     NDAR_INVAR462JT4_wes1chr1:
15430600-15430600
GAexonicnonsynonymous SNVNM_201628c.G1963Ap.A655T35.0-Zhou2022 GE
TMEM51     DEASD_0148_001chr1:
15545879-15545879
CTexonicsynonymous SNVNM_001136217
NM_018022
NM_001136216
NM_001136218
c.C402T
c.C402T
c.C402T
c.C402T
p.Y134Y
p.Y134Y
p.Y134Y
p.Y134Y
-8.396E-6Zhou2022 GE
FBLIM1     DEASD_0241_001chr1:
16096936-16096936
CTexonicnonsynonymous SNVNM_001024216
NM_001024215
NM_017556
c.C283T
c.C574T
c.C574T
p.P95S
p.P192S
p.P192S
19.898.258E-6Zhou2022 GE
SPEN     AU226Achr1:
16235920-16235920
ACexonicnonsynonymous SNVNM_015001c.A986Cp.D329A17.83-Zhou2022 GE
CLCNKB     08C77684chr1:
16375706-16375706
GAexonicnonsynonymous SNVNM_001165945
NM_000085
c.G240A
c.G747A
p.M80I
p.M249I
0.6851.0E-4Zhou2022 GE
NOS3     1-0898-003chr7:
150692305-150692305
CTexonicnonsynonymous SNVNM_001160109
NM_001160110
NM_001160111
NM_000603
c.C173T
c.C173T
c.C173T
c.C173T
p.P58L
p.P58L
p.P58L
p.P58L
10.848.527E-6Zhou2022 GE
PADI1     NDAR_INVNB971TGY_wes1chr1:
17531782-17531782
GAexonicnonsynonymous SNVNM_013358c.G70Ap.E24K10.173.0E-4Zhou2022 GE
UBR4     09C87498chr1:
19446711-19446711
GAexonicnonsynonymous SNVNM_020765c.C10273Tp.R3425C25.71.648E-5Zhou2022 GE
UBXN10     DEASD_0044_001chr1:
20517220-20517220
GAexonicnonsynonymous SNVNM_152376c.G166Ap.V56M4.4182.491E-5Zhou2022 GE
RAP1GAP     DEASD_0277_001chr1:
21929359-21929359
CTexonicsynonymous SNVNM_001145658
NM_002885
NM_001145657
c.G1668A
c.G1476A
c.G1554A
p.P556P
p.P492P
p.P518P
--Zhou2022 GE
HSPG2     NDAR_INVWK012EYC_wes1chr1:
22174444-22174444
CTintronic8.56-Zhou2022 GE
EPHB2     DEASD_0337_001chr1:
23233357-23233357
CTexonicsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449
c.C1869T
c.C2043T
c.C2046T
c.C2043T
p.N623N
p.N681N
p.N682N
p.N681N
-8.248E-6Zhou2022 GE
HNRNPR     AU026Achr1:
23637156-23637156
GAexonicnonsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826
c.C1213T
c.C1276T
c.C1390T
c.C1399T
c.C1579T
c.C1702T
c.C1693T
p.R405C
p.R426C
p.R464C
p.R467C
p.R527C
p.R568C
p.R565C
11.788.251E-6Zhou2022 GE
IFNLR1     DEASD_0278_001chr1:
24507257-24507257
TCexonicnonsynonymous SNVNM_170743
NM_173064
NM_173065
c.A146G
c.A146G
c.A146G
p.N49S
p.N49S
p.N49S
9.058-Zhou2022 GE
PDIK1L     NDAR_INVZT109BL0_wes1chr1:
26449034-26449034
AGexonicnonsynonymous SNVNM_001243532
NM_152835
NM_001243533
c.A992G
c.A992G
c.A992G
p.Q331R
p.Q331R
p.Q331R
12.59-Zhou2022 GE
ARID1A     NDAR_INVEG601VP6_wes1chr1:
27088806-27088806
ATexonicsynonymous SNVNM_006015
NM_139135
c.A2415T
c.A2415T
p.P805P
p.P805P
--Zhou2022 GE
EPB41     DEASD_0198_001chr1:
29379632-29379632
GAexonicsynonymous SNVNM_203343
NM_001166005
NM_001166006
NM_001166007
NM_004437
NM_203342
c.G1548A
c.G1653A
c.G1653A
c.G1026A
c.G1026A
c.G1026A
p.S516S
p.S551S
p.S551S
p.S342S
p.S342S
p.S342S
-8.328E-6Zhou2022 GE
SDC3     NDAR_INVLT014TFN_wes1chr1:
31346198-31346198
CTexonicnonsynonymous SNVNM_014654c.G1189Ap.A397T33.01.0E-4Zhou2022 GE
PUM1     09C85235chr1:
31437728-31437728
GAexonicnonsynonymous SNVNM_001020658
NM_014676
c.C2116T
c.C2116T
p.R706C
p.R706C
19.32-Zhou2022 GE
SNRNP40     DEASD_0296_001chr1:
31754296-31754296
CAexonicsynonymous SNVNM_004814c.G579Tp.T193T-1.652E-5Zhou2022 GE
SERINC2     09C79813chr1:
31905923-31905923
CGexonicnonsynonymous SNVNM_001199037
NM_018565
NM_178865
NM_001199038
NM_001199039
c.C1135G
c.C1135G
c.C1123G
c.C1150G
c.C958G
p.R379G
p.R379G
p.R375G
p.R384G
p.R320G
16.56-Zhou2022 GE
PTP4A2     NDAR_INVNX928JZW_wes1chr1:
32374546-32374546
CTexonicsynonymous SNVNM_001195100
NM_001195101
NM_080391
c.G336A
c.G318A
c.G411A
p.A112A
p.A106A
p.A137A
15.112.476E-5Zhou2022 GE
TMEM39B     UK10K_SKUSE5080230chr1:
32557520-32557520
AGexonicnonsynonymous SNVNM_018056c.A835Gp.K279E35.0-Zhou2022 GE
KIAA1522     DEASD_0340_001chr1:
33236926-33236926
CGexonicnonsynonymous SNVNM_001198972
NM_020888
c.C1969G
c.C2146G
p.P657A
p.P716A
0.959-Zhou2022 GE
NCDN     10C110016chr1:
36026645-36026645
CTexonicnonsynonymous SNVNM_001014841
NM_014284
NM_001014839
c.C842T
c.C893T
c.C893T
p.P281L
p.P298L
p.P298L
0.9-Zhou2022 GE
AGO4     09C85478chr1:
36282630-36282630
GTexonicnonsynonymous SNVNM_017629c.G167Tp.R56L17.66-Zhou2022 GE
AGO4     AU172Achr1:
36306838-36306838
GTexonicnonsynonymous SNVNM_017629c.G1797Tp.K599N18.19-Zhou2022 GE
AGO3     NDAR_INVRN099AG1_wes1chr1:
36474610-36474610
GAexonicnonsynonymous SNVNM_177422
NM_024852
c.G292A
c.G994A
p.G98R
p.G332R
34.0-Zhou2022 GE
GUCA2A     08C77554chr1:
42629116-42629116
GAexonicnonsynonymous SNVNM_033553c.C241Tp.L81F26.6-Zhou2022 GE
FOXJ3     09C85024chr1:
42647625-42647625
GAexonicsynonymous SNVNM_001198852
NM_001198850
NM_014947
NM_001198851
c.C1614T
c.C1716T
c.C1716T
c.C1716T
p.I538I
p.I572I
p.I572I
p.I572I
-8.34E-6Zhou2022 GE
CCDC24     ASDFI_1628chr1:
44458012-44458012
CTexonicsynonymous SNVNM_152499c.C255Tp.L85L--Zhou2022 GE
KLF17     NDAR_INVZW891AN2_wes1chr1:
44595425-44595425
CGexonicnonsynonymous SNVNM_173484c.C482Gp.S161W14.27-Zhou2022 GE
DMAP1     AU11304chr1:
44680521-44680521
GAexonicnonsynonymous SNVNM_019100
NM_001034023
NM_001034024
c.G344A
c.G344A
c.G344A
p.R115Q
p.R115Q
p.R115Q
35.0-Zhou2022 GE
DNAH2     1-0898-003chr17:
7736413-7736413
TCexonicnonsynonymous SNVNM_020877c.T13003Cp.Y4335H21.8-Zhou2022 GE
MAST2     DEASD_0048_001chr1:
46500523-46500523
GAexonicsynonymous SNVNM_015112c.G4182Ap.A1394A-1.661E-5Zhou2022 GE
MAST2     DEASD_0426_001chr1:
46501219-46501219
AGexonicsynonymous SNVNM_015112c.A4878Gp.A1626A--Zhou2022 GE
DMBX1     DEASD_0072_001chr1:
46977822-46977822
CAexonicnonsynonymous SNVNM_147192
NM_172225
c.C805A
c.C790A
p.Q269K
p.Q264K
23.3-Zhou2022 GE
TTC39A     DEASD_0407_001chr1:
51771704-51771704
TCexonicnonsynonymous SNVNM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665
c.A536G
c.A545G
c.A638G
c.A533G
c.A452G
c.A641G
p.E179G
p.E182G
p.E213G
p.E178G
p.E151G
p.E214G
9.726-Zhou2022 GE
OSBPL9     DEASD_0084_001chr1:
52253139-52253139
GCexonicnonsynonymous SNVNM_148905
NM_148904
NM_148907
NM_148906
NM_148908
NM_024586
NM_148909
c.G1581C
c.G1581C
c.G1785C
c.G2064C
c.G2076C
c.G2115C
c.G2145C
p.K527N
p.K527N
p.K595N
p.K688N
p.K692N
p.K705N
p.K715N
8.374-Zhou2022 GE
ACOT11     NDAR_INVLT014TFN_wes1chr1:
55060359-55060359
AGexonicnonsynonymous SNVNM_015547
NM_147161
c.A602G
c.A602G
p.Q201R
p.Q201R
13.01-Zhou2022 GE
MROH7     1360JS0006chr1:
55161082-55161082
CTexonicsynonymous SNVNM_001291332
NM_001039464
c.C1437T
c.C2883T
p.C479C
p.C961C
-2.0E-4Zhou2022 GE
MYSM1     UK10K_SKUSE5080234chr1:
59147575-59147575
TCexonicnonsynonymous SNVNM_001085487c.A1141Gp.I381V9.507-Zhou2022 GE
FOXD3     DEASD_0246_001chr1:
63789333-63789333
ATexonicnonsynonymous SNVNM_012183c.A604Tp.I202F20.6-Zhou2022 GE
CACHD1     10C105879chr1:
65139072-65139072
TGexonicnonsynonymous SNVNM_001293274
NM_020925
c.T1764G
c.T2499G
p.F588L
p.F833L
13.51-Zhou2022 GE
SGIP1     10C109647chr1:
67154953-67154953
GAexonicnonsynonymous SNVNM_001308203
NM_032291
c.G841A
c.G1438A
p.D281N
p.D480N
35.0-Zhou2022 GE
SRSF11     DEASD_0233_001chr1:
70703186-70703187
GAGexonicframeshift deletionNM_001190987
NM_004768
c.670delA
c.670delA
p.K224fs
p.K224fs
--Zhou2022 GE
MSH4     08C78798chr1:
76282194-76282195
CACexonicframeshift deletionNM_002440c.953delAp.Q318fs--Zhou2022 GE
ASXL3     2-1709-003chr18:
31324718-31324718
CTexonicstopgainNM_030632c.C4906Tp.Q1636X38.0-Zhou2022 GE
ASB17     AU219Achr1:
76397917-76397917
GTexonicstopgainNM_080868c.C60Ap.C20X36.0-Zhou2022 GE
ZNHIT6     NDAR_INVXF966VTK_wes1chr1:
86173504-86173504
TAexonicnonsynonymous SNVNM_017953
NM_001170670
c.A464T
c.A347T
p.E155V
p.E116V
18.71-Zhou2022 GE
CLCA4     09C86256chr1:
87043692-87043692
GAexonicnonsynonymous SNVNM_012128c.G2059Ap.A687T11.44-Zhou2022 GE
GBP6     AC03-1002-01chr1:
89846032-89846032
GAexonicnonsynonymous SNVNM_198460c.G713Ap.R238Q14.238.243E-6Zhou2022 GE
CDC7     NDAR_INVWL738LDP_wes1chr1:
91973842-91973842
GTexonicnonsynonymous SNVNM_001134419
NM_001134420
NM_003503
c.G223T
c.G223T
c.G223T
p.A75S
p.A75S
p.A75S
34.0-Zhou2022 GE
BTBD8     DEASD_0003_001chr1:
92546143-92546143
GAexonicsynonymous SNVNM_183242c.G15Ap.G5G-8.403E-6Zhou2022 GE
GLMN     DEASD_0031_001chr1:
92737032-92737032
TCexonicnonsynonymous SNVNM_053274c.A913Gp.M305V0.139-Zhou2022 GE
MTF2     AU15203chr1:
93602372-93602372
GAexonicnonsynonymous SNVNM_001164393
NM_001164392
NM_007358
NM_001164391
c.G1264A
c.G1399A
c.G1570A
c.G1264A
p.D422N
p.D467N
p.D524N
p.D422N
16.38-Zhou2022 GE
CCDC18     10C102957chr1:
93667486-93667486
GAexonicnonsynonymous SNVNM_001306076
NM_206886
c.G736A
c.G736A
p.E246K
p.E246K
26.86.683E-5Zhou2022 GE
ABCA4     10C107587chr1:
94502713-94502713
ATexonicsynonymous SNVNM_000350c.T3801Ap.T1267T--Zhou2022 GE
ABCD3     09C81574chr1:
94953137-94953137
AGexonicnonsynonymous SNVNM_002858c.A937Gp.M313V15.149.967E-5Zhou2022 GE
TMEM56     09C83024chr1:
95616924-95616924
AGexonicsynonymous SNVNM_001199679
NM_001199691
NM_152487
c.A348G
c.A348G
c.A348G
p.K116K
p.K116K
p.K116K
--Zhou2022 GE
PTBP2     NDAR_INVXU466BJV_wes1chr1:
97272493-97272493
GAexonicnonsynonymous SNVNM_001300990
NM_001300985
NM_001300986
NM_001300988
NM_001300989
NM_021190
NM_001300987
c.G994A
c.G1165A
c.G1174A
c.G1165A
c.G1150A
c.G1150A
c.G1198A
p.D332N
p.D389N
p.D392N
p.D389N
p.D384N
p.D384N
p.D400N
19.84-Zhou2022 GE
VAV3     09C90753Achr1:
108138879-108138879
GCexonicnonsynonymous SNVNM_001079874
NM_006113
c.C625G
c.C2305G
p.P209A
p.P769A
13.52-Zhou2022 GE
STXBP3     DEASD_0397_001chr1:
109315441-109315441
GAexonicnonsynonymous SNVNM_007269c.G593Ap.S198N13.23-Zhou2022 GE
STXBP3     09C95782chr1:
109321932-109321932
AGexonicnonsynonymous SNVNM_007269c.A709Gp.I237V19.21-Zhou2022 GE
CSF1     UK10K_SKUSE5080188chr1:
110456998-110456998
CTexonicnonsynonymous SNVNM_000757
NM_172210
NM_172211
NM_172212
c.C157T
c.C157T
c.C157T
c.C157T
p.R53W
p.R53W
p.R53W
p.R53W
14.59-Zhou2022 GE
STRIP1     08C77589chr1:
110584430-110584431
GCGexonicframeshift deletionNM_001270768
NM_033088
c.548delC
c.833delC
p.A183fs
p.A278fs
--Zhou2022 GE
ST7L     AU01204chr1:
113084629-113084629
TCexonicnonsynonymous SNVNM_001308264
NM_138728
NM_017744
NM_138727
NM_138729
c.A1024G
c.A1480G
c.A1573G
c.A1522G
c.A1573G
p.M342V
p.M494V
p.M525V
p.M508V
p.M525V
11.37-Zhou2022 GE
DENND2C     DEASD_0336_001chr1:
115153709-115153709
CTexonicnonsynonymous SNVNM_198459
NM_001256404
c.G1183A
c.G1354A
p.E395K
p.E452K
21.6-Zhou2022 GE
AMPD1     AU10204chr1:
115217373-115217373
CCTexonicframeshift insertionNM_001172626
NM_000036
c.1886dupA
c.1898dupA
p.K629fs
p.K633fs
--Zhou2022 GE
CSDE1     DEASD_0137_001chr1:
115276416-115276416
GTexonicsynonymous SNVNM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891
c.C681A
c.C774A
c.C681A
c.C774A
c.C819A
c.C912A
p.I227I
p.I258I
p.I227I
p.I258I
p.I273I
p.I304I
--Zhou2022 GE
ATP1A1     AU004Achr1:
116943617-116943617
GAexonicnonsynonymous SNVNM_000701
NM_001160233
NM_001160234
c.G2707A
c.G2707A
c.G2614A
p.G903R
p.G903R
p.G872R
26.8-Zhou2022 GE
TTF2     09C98146chr1:
117632812-117632812
CAexonicnonsynonymous SNVNM_003594c.C2478Ap.D826E17.06-Zhou2022 GE
HAO2     DEASD_0380_001chr1:
119927556-119927556
CTexonicsynonymous SNVNM_016527
NM_001005783
c.C441T
c.C480T
p.S147S
p.S160S
--Zhou2022 GE
HSD3B2     NDAR_INVNX928JZW_wes1chr1:
119964751-119964751
GAexonicsynonymous SNVNM_000198
NM_001166120
c.G627A
c.G627A
p.G209G
p.G209G
--Zhou2022 GE
NBPF8     08C78517chr1:
148017617-148017626
ATCCCAGGACAexonicnonframeshift deletionNM_001037501c.1677_1685delp.559_562del--Zhou2022 GE
APH1A     09C91621chr1:
150238957-150238957
GAexonicstopgainNM_001243771
NM_001243772
NM_001077628
NM_016022
c.C538T
c.C499T
c.C709T
c.C709T
p.R180X
p.R167X
p.R237X
p.R237X
38.0-Zhou2022 GE
APH1A     NDAR_INVVD872ZC6_wes1chr1:
150240177-150240177
CAexonicnonsynonymous SNVNM_001243771
NM_001077628
NM_016022
c.G126T
c.G297T
c.G297T
p.E42D
p.E99D
p.E99D
13.45-Zhou2022 GE
SETDB1     AU134Achr1:
150933526-150933526
TCexonicsynonymous SNVNM_001145415
NM_012432
c.T2988C
c.T2988C
p.A996A
p.A996A
--Zhou2022 GE
PSMB4     DEASD_0371_001chr1:
151372965-151372965
CAexonicnonsynonymous SNVNM_002796c.C395Ap.A132D28.1-Zhou2022 GE
POGZ     10C102646chr1:
151379469-151379469
GGGTACexonicframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2177_2178insGTAC
c.2303_2304insGTAC
c.2276_2277insGTAC
c.2435_2436insGTAC
c.2462_2463insGTAC
p.T726fs
p.T768fs
p.T759fs
p.T812fs
p.T821fs
--Zhou2022 GE
RORC     AU221Achr1:
151783852-151783852
CTexonicsynonymous SNVNM_001001523
NM_005060
c.G1281A
c.G1344A
p.L427L
p.L448L
--Zhou2022 GE
RORC     DEASD_0062_001chr1:
151787862-151787862
CGexonicnonsynonymous SNVNM_001001523
NM_005060
c.G275C
c.G338C
p.S92T
p.S113T
17.42-Zhou2022 GE
FLG2     DEASD_0231_001chr1:
152327810-152327810
CTexonicnonsynonymous SNVNM_001014342c.G2452Ap.A818T10.157.414E-5Zhou2022 GE
S100A1     09C83459chr1:
153604222-153604222
GAexonicnonsynonymous SNVNM_006271c.G190Ap.E64K16.051.647E-5Zhou2022 GE
ILF2     10C112515chr1:
153637720-153637720
GAexonicstopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Zhou2022 GE
MDC1     2-1715-003chr6:
30673010-30673010
GAexonicnonsynonymous SNVNM_014641c.C3950Tp.S1317F13.73-Zhou2022 GE
ATP8B2     NDAR_INVEB022VLQ_wes1chr1:
154307007-154307007
CTexonicsynonymous SNVNM_001005855
NM_020452
c.C777T
c.C876T
p.S259S
p.S292S
-8.248E-6Zhou2022 GE
ATP8B2     UK10K_SKUSE5080168chr1:
154317610-154317610
AGexonicnonsynonymous SNVNM_020452c.A2549Gp.N850S26.7-Zhou2022 GE
RUSC1     09C89285chr1:
155296911-155296911
CAexonicnonsynonymous SNVNM_001278228
NM_001278230
NM_001105205
NM_001278227
NM_001278229
NM_014328
NM_001105203
NM_001105204
c.C977A
c.C995A
c.C1172A
c.C896A
c.C677A
c.C995A
c.C2402A
c.C2084A
p.A326D
p.A332D
p.A391D
p.A299D
p.A226D
p.A332D
p.A801D
p.A695D
12.76-Zhou2022 GE
ASH1L     DEASD_0085_001chr1:
155448915-155448917
TTATexonicframeshift deletionNM_018489c.3744_3745delp.H1248fs--Zhou2022 GE
ARHGEF2     DEASD_0278_001chr1:
155932442-155932442
GAexonicnonsynonymous SNVNM_001162383
NM_001162384
NM_004723
c.C1043T
c.C1040T
c.C959T
p.A348V
p.A347V
p.A320V
28.3-Zhou2022 GE
LMNA     NDAR_INVEW902YT9_wes1chr1:
156105767-156105767
CTexonicsynonymous SNVNM_001257374
NM_001282626
NM_005572
NM_170707
NM_170708
NM_001282624
NM_001282625
c.C676T
c.C1012T
c.C1012T
c.C1012T
c.C1012T
c.C769T
c.C1012T
p.L226L
p.L338L
p.L338L
p.L338L
p.L338L
p.L257L
p.L338L
--Zhou2022 GE
MEF2D     DEASD_0089_001chr1:
156452417-156452417
GAexonicnonsynonymous SNVNM_001271629
NM_005920
c.C70T
c.C70T
p.R24W
p.R24W
20.2-Zhou2022 GE
ARHGEF11     DEASD_0084_001chr1:
156928572-156928572
TCexonicsynonymous SNVNM_014784
NM_198236
c.A1344G
c.A1464G
p.Q448Q
p.Q488Q
--Zhou2022 GE
CD1A     AU06304chr1:
158226779-158226779
GAexonicnonsynonymous SNVNM_001763c.G808Ap.A270T8.7482.472E-5Zhou2022 GE
PYHIN1     DEASD_0302_001chr1:
158913694-158913694
CTexonicstopgainNM_152501
NM_198928
NM_198929
NM_198930
c.C1117T
c.C1090T
c.C1117T
c.C1090T
p.R373X
p.R364X
p.R373X
p.R364X
21.13.0E-4Zhou2022 GE
COPA     NDAR_INVGE342MBJ_wes1chr1:
160281685-160281685
TCexonicnonsynonymous SNVNM_001098398
NM_004371
c.A1049G
c.A1049G
p.K350R
p.K350R
15.398.261E-6Zhou2022 GE
NCSTN     AU175Achr1:
160327962-160327962
CTexonicsynonymous SNVNM_001290186
NM_015331
NM_001290184
c.C1617T
c.C2031T
c.C1971T
p.F539F
p.F677F
p.F657F
-4.118E-5Zhou2022 GE
USP21     DEASD_0065_001chr1:
161130734-161130734
CTexonicnonsynonymous SNVNM_012475
NM_001014443
c.C304T
c.C304T
p.L102F
p.L102F
15.58-Zhou2022 GE
OLFML2B     DEASD_0097_001chr1:
161989809-161989809
GAexonicnonsynonymous SNVNM_001297713
NM_015441
c.C338T
c.C338T
p.S113L
p.S113L
12.931.0E-4Zhou2022 GE
PBX1     08C77554chr1:
164532514-164532515
GTGexonicframeshift deletionNM_001204961
NM_001204963
NM_002585
c.232delT
c.232delT
c.232delT
p.F78fs
p.F78fs
p.F78fs
--Zhou2022 GE
PBX1     DEASD_0021_001chr1:
164790805-164790805
CTexonicnonsynonymous SNVNM_001204963
NM_002585
c.C1142T
c.C1142T
p.T381I
p.T381I
25.1-Zhou2022 GE
CD247     09C91621chr1:
167410000-167410000
TCexonicsynonymous SNVNM_000734
NM_198053
c.A63G
c.A63G
p.A21A
p.A21A
--Zhou2022 GE
GORAB     DEASD_0124_001chr1:
170508470-170508470
CTexonicnonsynonymous SNVNM_001146039
NM_152281
c.C256T
c.C256T
p.L86F
p.L86F
17.22-Zhou2022 GE
MYOC     AU079Achr1:
171621313-171621313
GAexonicstopgainNM_000261c.C439Tp.R147X36.01.0E-4Zhou2022 GE
SLC9C2     09C87173chr1:
173493166-173493166
AGexonicnonsynonymous SNVNM_178527c.T2582Cp.I861T7.386-Zhou2022 GE
RC3H1     DEASD_0073_001chr1:
173947626-173947626
CTexonicnonsynonymous SNVNM_001300850
NM_001300851
NM_001300852
NM_172071
c.G1102A
c.G1102A
c.G1102A
c.G1102A
p.D368N
p.D368N
p.D368N
p.D368N
35.0-Zhou2022 GE
SOAT1     AU051Achr1:
179310419-179310419
TGexonicnonsynonymous SNVNM_001252511
NM_001252512
NM_003101
c.T580G
c.T559G
c.T754G
p.S194A
p.S187A
p.S252A
26.5-Zhou2022 GE
TDRD5     09C99485chr1:
179609178-179609178
GAexonicsynonymous SNVNM_001199092
NM_001199085
NM_001199089
NM_001199091
NM_173533
c.G390A
c.G1725A
c.G1725A
c.G1725A
c.G1725A
p.R130R
p.R575R
p.R575R
p.R575R
p.R575R
--Zhou2022 GE
CEP350     AU242Achr1:
179985050-179985050
AGexonicnonsynonymous SNVNM_014810c.A2119Gp.S707G27.3-Zhou2022 GE
CACNA1E     AU03604chr1:
181721285-181721285
CTexonicsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.C3681T
c.C3738T
c.C3738T
p.N1227N
p.N1246N
p.N1246N
--Zhou2022 GE
ZNF648     NDAR_INVAK465EDQ_wes1chr1:
182026889-182026889
CTexonicnonsynonymous SNVNM_001009992c.G257Ap.S86N9.12-Zhou2022 GE
HMCN1     AC02-1240-01chr1:
185985113-185985113
TCexonicsynonymous SNVNM_031935c.T4933Cp.L1645L-8.261E-6Zhou2022 GE
PRG4     1360JS0011chr1:
186276795-186276795
CTexonicsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.C1542T
c.C1665T
c.C1821T
c.C1815T
c.C1944T
p.L514L
p.L555L
p.L607L
p.L605L
p.L648L
-1.695E-5Zhou2022 GE
RGS1     08C78321chr1:
192545954-192545954
TCexonicnonsynonymous SNVNM_002922c.T269Cp.L90P15.04-Zhou2022 GE
RGS2     NDAR_INVYN810UMB_wes1chr1:
192779294-192779294
ATsplicingsplicing25.22.0E-4Zhou2022 GE
CDC73     NDAR_INVZD496DT3_wes1chr1:
193111163-193111163
GGACexonicframeshift insertionNM_024529c.696_697insACp.R232fs--Zhou2022 GE
KCNT2     10C105736chr1:
196395019-196395019
CGexonicnonsynonymous SNVNM_001287819
NM_001287820
NM_198503
c.G1084C
c.G1084C
c.G1084C
p.G362R
p.G362R
p.G362R
29.8-Zhou2022 GE
CRB1     09C89011chr1:
197390429-197390429
GAexonicnonsynonymous SNVNM_001193640
NM_001257966
NM_201253
NM_001257965
c.G1135A
c.G1471A
c.G1471A
c.G1264A
p.D379N
p.D491N
p.D491N
p.D422N
0.01-Zhou2022 GE
NR5A2     10C108596chr1:
200017391-200017391
CTexonicsynonymous SNVNM_001276464
NM_003822
NM_205860
c.C339T
c.C417T
c.C555T
p.L113L
p.L139L
p.L185L
8.781-Zhou2022 GE
CACNA1S     NDAR_INVAF559YZC_wes1chr1:
201009483-201009483
GCexonicnonsynonymous SNVNM_000069c.C5246Gp.S1749C6.996-Zhou2022 GE
KDM5B     NDAR_INVDR082LLL_wes1chr1:
202724403-202724403
GGCexonicframeshift insertionNM_006618
NM_001314042
c.1533dupG
c.1641dupG
p.H512fs
p.H548fs
--Zhou2022 GE
KDM5B     DEASD_0303_001chr1:
202742307-202742307
CGexonicnonsynonymous SNVNM_001314042
NM_006618
c.G515C
c.G515C
p.R172T
p.R172T
36.0-Zhou2022 GE
KLHL12     NDAR_INVMN966KXZ_wes1chr1:
202863873-202863873
CGexonicnonsynonymous SNVNM_001303109
NM_001303051
NM_021633
c.G837C
c.G1254C
c.G1140C
p.M279I
p.M418I
p.M380I
16.45-Zhou2022 GE
ZC3H11A       AU242Achr1:
203816590-203816590
ATexonicstopgainNM_014827c.A1321Tp.K441X41.0-Zhou2022 GE
NFASC     09C87225chr1:
204978698-204978698
CTexonicsynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388
c.C3150T
c.C3090T
c.C3105T
c.C3303T
p.N1050N
p.N1030N
p.N1035N
p.N1101N
9.507-Zhou2022 GE
CTNNBL1     1-0901-003chr20:
36468537-36468537
GAexonicnonsynonymous SNVNM_030877
NM_001281495
c.G1247A
c.G1166A
p.R416Q
p.R389Q
27.98.385E-6Zhou2022 GE
NFASC     1339JS0045chr1:
204978698-204978698
CTexonicsynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388
c.C3150T
c.C3090T
c.C3105T
c.C3303T
p.N1050N
p.N1030N
p.N1035N
p.N1101N
9.507-Zhou2022 GE
RBBP5     UK10K_SKUSE5080181chr1:
205072989-205072989
CTexonicnonsynonymous SNVNM_001193272
NM_001193273
NM_005057
c.G518A
c.G137A
c.G518A
p.G173D
p.G46D
p.G173D
36.0-Zhou2022 GE
C4BPB     DEASD_0334_001chr1:
207265132-207265132
AGexonicnonsynonymous SNVNM_000716
NM_001017364
NM_001017365
NM_001017366
NM_001017367
c.A376G
c.A373G
c.A376G
c.A373G
c.A376G
p.T126A
p.T125A
p.T126A
p.T125A
p.T126A
17.67-Zhou2022 GE
DIEXF     DEASD_0100_001chr1:
210016834-210016834
GAexonicnonsynonymous SNVNM_014388c.G1820Ap.R607H21.74.0E-4Zhou2022 GE
NEK2     AU037Achr1:
211843642-211843642
GAexonicnonsynonymous SNVNM_001204182
NM_001204183
NM_002497
c.C746T
c.C746T
c.C746T
p.T249M
p.T249M
p.T249M
17.48.243E-6Zhou2022 GE
FLVCR1     DEASD_0118_001chr1:
213061871-213061871
GAexonicnonsynonymous SNVNM_014053c.G1348Ap.A450T35.0-Zhou2022 GE
PTPN14     DEASD_0262_001chr1:
214557735-214557735
GAexonicnonsynonymous SNVNM_005401c.C1463Tp.P488L24.22.471E-5Zhou2022 GE
KCTD3     DEASD_0011_001chr1:
215781447-215781447
GAexonicsynonymous SNVNM_016121c.G1398Ap.A466A8.2348.256E-6Zhou2022 GE
USH2A     09C87038chr1:
216363573-216363573
AGexonicnonsynonymous SNVNM_007123
NM_206933
c.T4388C
c.T4388C
p.L1463S
p.L1463S
12.03-Zhou2022 GE
BPNT1     UK10K_SKUSE5080257chr1:
220233081-220233081
CAexonicnonsynonymous SNVNM_001286149
NM_001286150
NM_001286151
NM_006085
c.G560T
c.G617T
c.G560T
c.G725T
p.G187V
p.G206V
p.G187V
p.G242V
25.9-Zhou2022 GE
MARK1     10C116616chr1:
220835211-220835211
GAexonicsynonymous SNVNM_001286128
NM_001286126
NM_001286124
NM_018650
c.G1980A
c.G2046A
c.G2094A
c.G2091A
p.P660P
p.P682P
p.P698P
p.P697P
-1.678E-5Zhou2022 GE
MIA3     DEASD_0296_001chr1:
222805584-222805584
AGexonicnonsynonymous SNVNM_198551c.A3247Gp.T1083A1.62-Zhou2022 GE
MIA3     ASDFI_1144chr1:
222835428-222835428
GAexonicnonsynonymous SNVNM_001300867
NM_198551
c.G1778A
c.G5144A
p.R593Q
p.R1715Q
12.498.305E-6Zhou2022 GE
PRKCE     1-0901-004chr2:
45879477-45879477
GAexonicnonsynonymous SNVNM_005400c.G238Ap.E80K25.0-Zhou2022 GE
CDC42BPA     UK10K_SKUSE5080268chr1:
227307548-227307548
TGexonicnonsynonymous SNVNM_003607
NM_014826
c.A1604C
c.A1604C
p.K535T
p.K535T
25.5-Zhou2022 GE
RYR2     DEASD_0115_001chr1:
237870440-237870440
CAexonicnonsynonymous SNVNM_001035c.C9772Ap.P3258T13.93-Zhou2022 GE
CHRM3     DEASD_0050_001chr1:
240072255-240072255
AGexonicnonsynonymous SNVNM_000740c.A1504Gp.I502V14.25-Zhou2022 GE
CHML     DEASD_0121_001chr1:
241798420-241798420
TAexonicnonsynonymous SNVNM_001821c.A649Tp.I217F9.41-Zhou2022 GE
EXO1     AC02-1177-01chr1:
242015681-242015681
TGexonicsynonymous SNVNM_003686
NM_006027
NM_130398
c.T249G
c.T249G
c.T249G
p.P83P
p.P83P
p.P83P
--Zhou2022 GE
ZBTB18     NDAR_INVVH064RG2_wes1chr1:
244218501-244218501
CTexonicsynonymous SNVNM_006352
NM_001278196
NM_205768
c.C1398T
c.C1398T
c.C1425T
p.H466H
p.H466H
p.H475H
2.1868.315E-6Zhou2022 GE
ADSS     ASDFI_1572chr1:
244583599-244583599
CAsplicingsplicing23.6-Zhou2022 GE
DESI2     DEASD_0061_001chr1:
244816617-244816617
TTGexonicframeshift insertionNM_001297746
NM_016076
c.3dupG
c.3dupG
p.M1fs
p.M1fs
--Zhou2022 GE
PGBD2     AU13203chr1:
249211378-249211378
ATexonicnonsynonymous SNVNM_170725c.A595Tp.M199L12.84-Zhou2022 GE
SH3YL1     UK10K_SKUSE5080232chr2:
234212-234212
CTexonicnonsynonymous SNVNM_001159597
NM_015677
NM_001282682
NM_001282687
c.G352A
c.G352A
c.G64A
c.G64A
p.G118R
p.G118R
p.G22R
p.G22R
17.413.319E-5Zhou2022 GE
MYT1L     DEASD_0440_001chr2:
1893073-1893073
GAexonicsynonymous SNVNM_001303052
NM_015025
c.C2460T
c.C2454T
p.P820P
p.P818P
-8.28E-6Zhou2022 GE
MYT1L     DEASD_0057_001chr2:
1921023-1921023
GCexonicnonsynonymous SNVNM_001303052
NM_015025
c.C1572G
c.C1566G
p.H524Q
p.H522Q
19.46-Zhou2022 GE
MYT1L     AU062Achr2:
1926950-1926950
GTexonicstopgainNM_001303052
NM_015025
c.C591A
c.C591A
p.Y197X
p.Y197X
39.0-Zhou2022 GE
ASAP2     09C84797chr2:
9467956-9467956
AGexonicnonsynonymous SNVNM_001135191
NM_003887
c.A602G
c.A602G
p.Y201C
p.Y201C
23.1-Zhou2022 GE
NOL10     AU246Achr2:
10747348-10747348
ACexonicnonsynonymous SNVNM_001261392
NM_001261394
NM_024894
c.T1038G
c.T966G
c.T1116G
p.D346E
p.D322E
p.D372E
21.6-Zhou2022 GE
GREB1     NDAR_INVMK181HMA_wes1chr2:
11765413-11765413
GAexonicsynonymous SNVNM_014668c.G4281Ap.S1427S-1.657E-5Zhou2022 GE
NTSR2     NDAR_INVRR429WG7_wes1chr2:
11798722-11798722
GAexonicsynonymous SNVNM_012344c.C1116Tp.A372A-1.0E-4Zhou2022 GE
WDR35     NDAR_INVPW048JAT_wes1chr2:
20138107-20138107
CGexonicnonsynonymous SNVNM_020779
NM_001006657
c.G1982C
c.G2015C
p.R661P
p.R672P
26.1-Zhou2022 GE
APOB     1483JS0022chr2:
21229188-21229188
TGexonicnonsynonymous SNVNM_000384c.A10552Cp.N3518H13.02-Zhou2022 GE
SUPV3L1     2-1715-004chr10:
70968785-70968785
GAexonicsynonymous SNVNM_003171
NM_001301683
c.G2355A
c.G1962A
p.S785S
p.S654S
-8.434E-6Zhou2022 GE
ADCY3     DEASD_0369_004chr2:
25042880-25042880
AGexonicnonsynonymous SNVNM_004036c.T3356Cp.L1119S27.8-Zhou2022 GE
SLAIN2     1-0043-003chr4:
48380044-48380044
AGexonicnonsynonymous SNVNM_020846c.A670Gp.I224V5.8881.656E-5Zhou2022 GE
ADCY3     DEASD_0193_001chr2:
25057739-25057739
CTexonicnonsynonymous SNVNM_004036c.G1729Ap.V577M14.51-Zhou2022 GE
ADCY3     DEASD_0171_001chr2:
25061366-25061366
GAexonicnonsynonymous SNVNM_004036c.C1481Tp.A494V11.3-Zhou2022 GE
DNAJC27     ASDFI_1071chr2:
25180710-25180710
TGexonicnonsynonymous SNVNM_001198559
NM_016544
c.A374C
c.A374C
p.E125A
p.E125A
15.99-Zhou2022 GE
ATXN7L1     1-0901-004chr7:
105254603-105254603
GAexonicsynonymous SNVNM_138495
NM_020725
c.C1806T
c.C2178T
p.P602P
p.P726P
-4.662E-5Zhou2022 GE
DNMT3A     DEASD_0131_001chr2:
25463289-25463289
TCexonicnonsynonymous SNVNM_153759
NM_022552
NM_175629
c.A1637G
c.A2204G
c.A2204G
p.Y546C
p.Y735C
p.Y735C
21.31.0E-4Zhou2022 GE
KIF3C     DEASD_0016_001chr2:
26203250-26203250
TCexonicnonsynonymous SNVNM_002254c.A1537Gp.K513E15.55-Zhou2022 GE
C2orf70     NDAR_INVFF921HTH_wes1chr2:
26798966-26798966
CTexonicnonsynonymous SNVNM_001105519c.C271Tp.R91C8.1441.656E-5Zhou2022 GE
DPYSL5     AU04203chr2:
27164818-27164818
GAexonicnonsynonymous SNVNM_001253723
NM_001253724
NM_020134