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Results for "O’Roak2012b"

Variant Events: 243

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
SLC22A9     11942.p1chr11:
63177286-63177286
CGexonicDe novosynonymous SNVNM_080866c.C1614Gp.P538P-8.333E-6O’Roak2012b E
ZFYVE9     11069.p1chr1:
52704550-52704550
TGexonicDe novosynonymous SNVNM_004799
NM_007324
c.T1461G
c.T1461G
p.G487G
p.G487G
--O’Roak2012b E
NAA40     12532.p1chr11:
63713339-63713339
ACexonicDe novononsynonymous SNVNM_024771c.A34Cp.K12Q16.852.471E-5O’Roak2012b E
TSC2     12621.p1chr16:
2136269-2136269
CTexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548
c.C4537T
c.C4669T
c.C4738T
p.R1513W
p.R1557W
p.R1580W
15.981.672E-5O’Roak2012b E
SRRM2     12238.p1chr16:
2815062-2815062
CTexonicDe novosynonymous SNVNM_016333c.C4533Tp.T1511T--O’Roak2012b E
C3orf38     12521.p1chr3:
88205377-88205377
AGexonicDe novosynonymous SNVNM_173824c.A582Gp.G194G--O’Roak2012b E
L1TD1     12603.p1chr1:
62672433-62672433
TCexonicDe novononsynonymous SNVNM_019079
NM_001164835
c.T133C
c.T133C
p.C45R
p.C45R
4.814-O’Roak2012b E
PAQR4     12381.p1chr16:
3021892-3021892
CTexonicDe novosynonymous SNVNM_001284512
NM_001284511
NM_001284513
NM_152341
c.C543T
c.C648T
c.C564T
c.C765T
p.H181H
p.H216H
p.H188H
p.H255H
-2.637E-5O’Roak2012b E
SCYL1     12073.p1chr11:
65304530-65304530
GAexonicDe novosynonymous SNVNM_001048218
NM_020680
c.G1839A
c.G1890A
p.E613E
p.E630E
5.203-O’Roak2012b E
ZBED2     13557.p1chr3:
111312622-111312622
GAexonicDe novosynonymous SNVNM_024508c.C427Tp.L143L--O’Roak2012b E
POLQ     11043.p1chr3:
121208072-121208072
TAexonicDe novononsynonymous SNVNM_199420c.A3706Tp.N1236Y6.928-O’Roak2012b E
ADCY5     11653.p1chr3:
123046605-123046605
GAexonicDe novononsynonymous SNVNM_001199642
NM_183357
c.C757T
c.C1807T
p.R253C
p.R603C
23.21.661E-5O’Roak2012b E
MAPRE1     11093.p1chr20:
31473369-31473369
GAintergenicDe novo--O’Roak2012b E
LRRC8B     11569.p1chr1:
90049523-90049523
GAexonicDe novosynonymous SNVNM_015350
NM_001134476
c.G1314A
c.G1314A
p.E438E
p.E438E
--O’Roak2012b E
ZNF644     12641.p1chr1:
91405302-91405302
CTexonicDe novononsynonymous SNVNM_201269c.G1609Ap.E537K13.87-O’Roak2012b E
KALRN     13008.p1chr3:
124281800-124281800
CTexonicDe novosynonymous SNVNM_001024660c.C5040Tp.S1680S9.4815.027E-5O’Roak2012b E
GLMN     12378.p1chr1:
92729282-92729282
CTexonicDe novononsynonymous SNVNM_053274c.G1307Ap.R436H7.151-O’Roak2012b E
RUVBL1     11257.p1chr3:
127806574-127806574
ATexonicDe novononsynonymous SNVNM_003707c.T1094Ap.L365Q18.0-O’Roak2012b E
AMY2B     11691.p1chr1:
104121995-104121995
GCexonicDe novononsynonymous SNVNM_020978c.G1409Cp.G470A22.5-O’Roak2012b E
NTNG1     12532.p1chr1:
107691283-107691283
AGexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917
c.A68G
c.A68G
c.A68G
c.A68G
p.Y23C
p.Y23C
p.Y23C
p.Y23C
19.13-O’Roak2012b E
NTNG1     11660.p1chr1:
107867061-107867061
CTexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917
c.C404T
c.C404T
c.C404T
c.C404T
p.T135I
p.T135I
p.T135I
p.T135I
22.4-O’Roak2012b E
DNAJB9     12667.p1chr7:
108213622-108213622
TGexonicDe novononsynonymous SNVNM_012328c.T497Gp.F166C18.46-O’Roak2012b E
DDX20     11055.p1chr1:
112308784-112308784
TGexonicDe novononsynonymous SNVNM_007204c.T1738Gp.S580A26.63.31E-5O’Roak2012b E
DBR1     13798.p1chr3:
137885960-137885960
TCexonicDe novononsynonymous SNVNM_016216c.A677Gp.H226R23.2-O’Roak2012b E
CUL5     11571.p1chr11:
107944174-107944174
GAexonicDe novononsynonymous SNVNM_003478c.G1063Ap.V355I20.9-O’Roak2012b E
ZMYND8     11472.p1chr20:
45875004-45875004
CTexonicDe novononsynonymous SNVNM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772
c.G1816A
c.G1816A
c.G1957A
c.G2032A
c.G2032A
c.G1957A
c.G1957A
c.G1957A
c.G2032A
c.G2032A
c.G2032A
c.G1957A
c.G1972A
c.G1972A
c.G1228A
c.G1228A
c.G1972A
p.A606T
p.A606T
p.A653T
p.A678T
p.A678T
p.A653T
p.A653T
p.A653T
p.A678T
p.A678T
p.A678T
p.A653T
p.A658T
p.A658T
p.A410T
p.A410T
p.A658T
3.722-O’Roak2012b E
HSPB2       11696.p1chr11:
111784275-111784275
CTexonicDe novononsynonymous SNVNM_001541c.C205Tp.L69F12.05-O’Roak2012b E
HLTF     12346.p1chr3:
148773129-148773129
TAexonicDe novosynonymous SNVNM_003071
NM_139048
c.A1434T
c.A1434T
p.T478T
p.T478T
--O’Roak2012b E
CNOT4     13415.p1chr7:
135122938-135122938
CTexonicDe novononsynonymous SNVNM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
21.4-O’Roak2012b E
SCHIP1       12011.p1chr3:
159604035-159604035
CTexonicDe novosynonymous SNVNM_001197108
NM_001197109
NM_001197107
NM_014575
NM_001197114
NM_001197113
c.C222T
c.C189T
c.C879T
c.C918T
c.C1065T
c.C1146T
p.N74N
p.N63N
p.N293N
p.N306N
p.N355N
p.N382N
-7.0E-4O’Roak2012b E
ADGRG5     11526.p1chr16:
57604401-57604401
GAexonicDe novononsynonymous SNVNM_001304376
NM_153837
c.G1162A
c.G1162A
p.V388I
p.V388I
10.519.116E-5O’Roak2012b E
TEPP     11964.p1chr16:
58011869-58011869
GAexonicDe novononsynonymous SNVNM_199046
NM_199456
c.G314A
c.G314A
p.R105H
p.R105H
22.61.668E-5O’Roak2012b E
CNOT1     11491.p1chr16:
58589410-58589410
GCexonicDe novononsynonymous SNVNM_001265612
NM_016284
NM_206999
c.C2621G
c.C2636G
c.C2636G
p.S874C
p.S879C
p.S879C
29.61.671E-5O’Roak2012b E
NLGN1     12157.p1chr3:
173999004-173999004
CTexonicDe novononsynonymous SNVNM_014932c.C2383Tp.H795Y13.598.29E-6O’Roak2012b E
ARNT     12741.p1chr1:
150789281-150789281
CAexonicDe novosynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.G1740T
c.G1740T
c.G1785T
c.G1785T
c.G1743T
p.R580R
p.R580R
p.R595R
p.R595R
p.R581R
--O’Roak2012b E
TREH     13726.p1chr11:
118532369-118532369
CAexonicDe novounknown14.99-O’Roak2012b E
TBL1XR1     12335.p1chr3:
176765107-176765107
AGexonicDe novononsynonymous SNVNM_024665c.T845Cp.L282P21.9-O’Roak2012b E
OPRL1     11093.p1chr20:
62729390-62729390
CTexonicDe novononsynonymous SNVNM_000913
NM_182647
NM_001200019
c.C469T
c.C469T
c.C469T
p.R157C
p.R157C
p.R157C
19.52.489E-5O’Roak2012b E
KRBA1     11773.p1chr7:
149420891-149420891
CGexonicDe novounknown13.1-O’Roak2012b E
CDH5     12086.p1chr16:
66434715-66434715
CTexonicDe novononsynonymous SNVNM_001795c.C1633Tp.R545W19.213.299E-5O’Roak2012b E
LTN1     11843.p1chr21:
30318550-30318550
CAexonicMosaic Pat.stopgainNM_015565c.G3685Tp.G1229X40.0-O’Roak2012b E
MCAM     12157.p1chr11:
119185283-119185283
CTexonicDe novononsynonymous SNVNM_006500c.G475Ap.A159T28.28.253E-6O’Roak2012b E
KMT2C     11148.p1chr7:
151842339-151842339
GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5O’Roak2012b E
EIF4G1     12285.p1chr3:
184042810-184042810
ACexonicDe novononsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.A2179C
c.A2272C
c.A2503C
c.A2767C
c.A2785C
c.A2644C
c.A2764C
c.A2785C
p.K727Q
p.K758Q
p.K835Q
p.K923Q
p.K929Q
p.K882Q
p.K922Q
p.K929Q
26.6-O’Roak2012b E
DYRK1A     13890.p1chr21:
38865466-38865466
GAsplicingDe novosplicing28.2-O’Roak2012b E
UBE3C     11006.p1chr7:
157041114-157041114
CTexonicDe novononsynonymous SNVNM_014671c.C2534Tp.S845F21.28.237E-6O’Roak2012b E
PKD1L3     11006.p1chr16:
71978060-71978060
CTexonicDe novounknown-4.568E-5O’Roak2012b E
BRWD1     14292.p1chr21:
40568453-40568454
GTGexonicDe novoframeshift deletionNM_018963
NM_033656
c.6541delA
c.6541delA
p.T2181fs
p.T2181fs
--O’Roak2012b E
CDON     12161.p1chr11:
125891290-125891290
AGexonicDe novosynonymous SNVNM_001243597
NM_016952
c.T202C
c.T202C
p.L68L
p.L68L
0.1729.063E-5O’Roak2012b E
SRPRA     12086.p1chr11:
126134982-126134982
CTexonicDe novononsynonymous SNVNM_001177842
NM_003139
c.G1313A
c.G1397A
p.R438H
p.R466H
35.08.253E-6O’Roak2012b E
TMPRSS2     11013.p1chr21:
42842590-42842590
CTexonicDe novononsynonymous SNVNM_001135099
NM_005656
c.G1267A
c.G1156A
p.A423T
p.A386T
13.782.53E-5O’Roak2012b E
TNKS     11569.p1chr8:
9567684-9567684
GCexonicDe novononsynonymous SNVNM_003747c.G1703Cp.R568T18.48-O’Roak2012b E
OR10Z1     12933.p1chr1:
158576351-158576351
CAexonicDe novononsynonymous SNVNM_001004478c.C123Ap.S41R14.96-O’Roak2012b E
GSE1     11711.p1chr16:
85690061-85690061
GAexonicDe novononsynonymous SNVNM_001134473
NM_001278184
NM_014615
c.G790A
c.G883A
c.G1102A
p.E264K
p.E295K
p.E368K
19.58-O’Roak2012b E
BMP1     11989.p1chr8:
22067161-22067161
GAexonicDe novononsynonymous SNVNM_006129c.G2779Ap.G927S32.08.254E-6O’Roak2012b E
DDR2     12212.p1chr1:
162737120-162737120
AGexonicDe novononsynonymous SNVNM_006182
NM_001014796
c.A1264G
c.A1264G
p.R422G
p.R422G
18.99-O’Roak2012b E
DGCR8     12373.p1chr22:
20074137-20074137
CTexonicDe novosynonymous SNVNM_001190326
NM_022720
c.C651T
c.C651T
p.G217G
p.G217G
-8.261E-6O’Roak2012b E
TAS2R10     12630.p1chr12:
10978472-10978472
TAexonicDe novononsynonymous SNVNM_023921c.A397Tp.I133L0.709-O’Roak2012b E
CEP350     11055.p1chr1:
179983048-179983048
ACexonicDe novononsynonymous SNVNM_014810c.A1460Cp.N487T8.7-O’Roak2012b E
CACNA1E     11773.p1chr1:
181708295-181708295
GAexonicDe novononsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.G3568A
c.G3625A
c.G3625A
p.G1190S
p.G1209S
p.G1209S
35.0-O’Roak2012b E
MYBBP1A     12346.p1chr17:
4444853-4444853
GTexonicDe novononsynonymous SNVNM_001105538
NM_014520
c.C3202A
c.C3202A
p.R1068S
p.R1068S
11.22-O’Roak2012b E
FRYL     12532.p1chr4:
48514594-48514594
TGexonicDe novononsynonymous SNVNM_015030c.A8049Cp.E2683D12.74-O’Roak2012b E
ZBTB41     11526.p1chr1:
197128563-197128563
AGexonicDe novononsynonymous SNVNM_194314c.T2656Cp.Y886H21.7-O’Roak2012b E
SLCO1C1     13533.p1chr12:
20864352-20864352
AGexonicDe novononsynonymous SNVNM_001145944
NM_017435
NM_001145945
NM_001145946
c.A83G
c.A437G
c.A437G
c.A437G
p.N28S
p.N146S
p.N146S
p.N146S
16.138.241E-6O’Roak2012b E
PITPNM3     11120.p1chr17:
6371601-6371601
TCexonicDe novononsynonymous SNVNM_001165966
NM_031220
c.A1726G
c.A1834G
p.S576G
p.S612G
10.79-O’Roak2012b E
TTC28     11872.p1chr22:
28501597-28501597
GTexonicDe novosynonymous SNVNM_001145418c.C2977Ap.R993R--O’Roak2012b E
CHD7     13733.p1chr8:
61735090-61735090
GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-O’Roak2012b E
ETFBKMT     12603.p1chr12:
31820918-31820918
GAexonicDe novosynonymous SNVNM_001135863
NM_001135864
NM_173802
c.G783A
c.G783A
c.G783A
p.Q261Q
p.Q261Q
p.Q261Q
--O’Roak2012b E
CHD3     12630.p1chr17:
7812028-7812028
CTexonicDe novononsynonymous SNVNM_005852
NM_001005271
NM_001005273
c.C5173T
c.C5452T
c.C5275T
p.R1725W
p.R1818W
p.R1759W
17.3-O’Roak2012b E
MYH10     13742.p1chr17:
8457299-8457299
TCexonicDe novononsynonymous SNVNM_005964
NM_001256012
NM_001256095
c.A764G
c.A794G
c.A791G
p.Y255C
p.Y265C
p.Y264C
21.8-O’Roak2012b E
SGSM3     11523.p1chr22:
40802589-40802589
CTexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.C919T
c.C1108T
p.R307C
p.R370C
23.63.508E-5O’Roak2012b E
RGS22     13593.p1chr8:
100990260-100990260
CAexonicDe novononsynonymous SNVNM_001286693
NM_001286692
NM_015668
c.G2861T
c.G3368T
c.G3404T
p.C954F
p.C1123F
p.C1135F
15.73-O’Roak2012b E
CELA1     13742.p1chr12:
51723570-51723570
AGexonicDe novosynonymous SNVNM_001971c.T657Cp.S219S--O’Roak2012b E
KRT80     11472.p1chr12:
52566841-52566841
ATexonicDe novononsynonymous SNVNM_001081492
NM_182507
c.T938A
c.T938A
p.I313N
p.I313N
22.9-O’Roak2012b E
RIMS2     12086.p1chr8:
104778570-104778570
GAexonicDe novononsynonymous SNVNM_001100117c.G503Ap.R168Q14.18.285E-6O’Roak2012b E
SP7     11472.p1chr12:
53722742-53722742
GAexonicDe novononsynonymous SNVNM_152860
NM_001173467
NM_001300837
c.C484T
c.C484T
c.C430T
p.H162Y
p.H162Y
p.H144Y
17.98-O’Roak2012b E
ZBED4     13158.p1chr22:
50279386-50279386
CTexonicDe novosynonymous SNVNM_014838c.C2076Tp.Y692Y--O’Roak2012b E
SBF1     13793.p1chr22:
50899030-50899030
TCexonicDe novononsynonymous SNVNM_002972c.A3079Gp.T1027A1.494-O’Roak2012b E
NACA     11198.p1chr12:
57106655-57106655
AGexonicDe novononsynonymous SNVNM_001113202
NM_001113203
c.T548C
c.T2678C
p.L183S
p.L893S
18.09-O’Roak2012b E
COL25A1     12118.p1chr4:
109790273-109790274
GTGexonicDe novoframeshift deletionNM_001256074
NM_032518
NM_198721
c.1041delA
c.1053delA
c.1053delA
p.E347fs
p.E351fs
p.E351fs
--O’Roak2012b E
KIAA0100     13346.p1chr17:
26961045-26961045
GAexonicDe novostopgainNM_014680c.C3130Tp.R1044X42.0-O’Roak2012b E
LRP1     11205.p1chr12:
57532354-57532354
CTexonicDe novosynonymous SNVNM_002332c.C180Tp.A60A--O’Roak2012b E
NUP133     12153.p1chr1:
229596508-229596508
TCexonicDe novosynonymous SNVNM_018230c.A2694Gp.S898S--O’Roak2012b E
TSNARE1     13557.p1chr8:
143356191-143356191
GAexonicDe novononsynonymous SNVNM_001291931
NM_145003
c.C740T
c.C1397T
p.S247L
p.S466L
9.587-O’Roak2012b E
NDST4     11006.p1chr4:
115997959-115997959
AGexonicDe novosynonymous SNVNM_022569c.T234Cp.P78P--O’Roak2012b E
RPS6KA3     13222.p1chrX:
20193403-20193403
GCexonicDe novostopgainNM_004586c.C1106Gp.S369X37.0-O’Roak2012b E
MDM2     11947.p1chr12:
69233432-69233432
GAexonicDe novononsynonymous SNVNM_001145340
NM_001278462
NM_001145339
NM_001145337
NM_002392
c.G691A
c.G769A
c.G1132A
c.G1138A
c.G1297A
p.E231K
p.E257K
p.E378K
p.E380K
p.E433K
14.92-O’Roak2012b E
CNST     11346.p1chr1:
246754937-246754937
GAexonicDe novononsynonymous SNVNM_001139459
NM_152609
c.G73A
c.G73A
p.V25M
p.V25M
12.131.0E-4O’Roak2012b E
OPLAH     11518.p1chr8:
145114848-145114848
CTexonicDe novononsynonymous SNVNM_017570c.G88Ap.V30M12.878.484E-6O’Roak2012b E
SYNRG     11599.p1chr17:
35946557-35946557
TGexonicDe novononsynonymous SNVNM_001163544
NM_001163545
NM_001163546
NM_001163547
NM_007247
NM_080550
NM_198882
c.A341C
c.A338C
c.A341C
c.A341C
c.A341C
c.A341C
c.A341C
p.D114A
p.D113A
p.D114A
p.D114A
p.D114A
p.D114A
p.D114A
23.8-O’Roak2012b E
OR11L1     13274.p1chr1:
248005027-248005027
GCexonicDe novononsynonymous SNVNM_001001959c.C172Gp.P58A14.4-O’Roak2012b E
PLXDC1     11545.p1chr17:
37296037-37296037
CTexonicDe novononsynonymous SNVNM_020405c.G125Ap.R42Q6.3868.305E-6O’Roak2012b E
SPATA6L     13415.p1chr9:
4605416-4605416
TAexonicDe novosynonymous SNVNM_001039395c.A846Tp.T282T5.743-O’Roak2012b E
PDIA6     13812.p1chr2:
10931993-10931993
TCexonicDe novononsynonymous SNVNM_005742
NM_001282705
NM_001282706
NM_001282707
NM_001282704
c.A512G
c.A656G
c.A527G
c.A503G
c.A668G
p.D171G
p.D219G
p.D176G
p.D168G
p.D223G
15.76-O’Roak2012b E
APAF1     11722.p1chr12:
99076979-99076979
TCexonicDe novononsynonymous SNVNM_001160
NM_013229
NM_181861
NM_181868
c.T2072C
c.T2072C
c.T2105C
c.T2105C
p.V691A
p.V691A
p.V702A
p.V702A
24.3-O’Roak2012b E
ACLY     11029.p1chr17:
40042385-40042385
GAexonicDe novosynonymous SNVNM_001303275
NM_198830
NM_001096
NM_001303274
c.C2184T
c.C2022T
c.C2052T
c.C2214T
p.G728G
p.G674G
p.G684G
p.G738G
-3.297E-5O’Roak2012b E
TSR2     12358.p1chrX:
54467212-54467212
TGexonicDe novononsynonymous SNVNM_058163c.T171Gp.N57K21.2-O’Roak2012b E
GNL3L     13409.p1chrX:
54586960-54586960
CTexonicDe novosynonymous SNVNM_001184819
NM_019067
c.C1674T
c.C1674T
p.I558I
p.I558I
--O’Roak2012b E
ZC3H12B     11964.p1chrX:
64708914-64708914
GAexonicDe novononsynonymous SNVNM_001010888c.G233Ap.R78H27.92.308E-5O’Roak2012b E
TRIO     11009.p1chr5:
14388774-14388774
CTexonicDe novononsynonymous SNVNM_007118c.C3934Tp.R1312W17.341.649E-5O’Roak2012b E
ITGB3       13815.p1chr17:
45368327-45368327
GAexonicMosaic Pat.nonsynonymous SNVNM_000212c.G1133Ap.R378H24.22.471E-5O’Roak2012b E
CD72     12630.p1chr9:
35611807-35611807
CTexonicDe novononsynonymous SNVNM_001782c.G944Ap.R315H0.0241.649E-5O’Roak2012b E
ITGA2     12430.p1chr5:
52340901-52340901
CTexonicDe novosynonymous SNVNM_002203c.C366Tp.N122N--O’Roak2012b E
FBXO10       11629.p1chr9:
37541606-37541606
CTexonicDe novononsynonymous SNVNM_012166c.G160Ap.E54K20.57.625E-5O’Roak2012b E
IQGAP2     12752.p1chr5:
75902128-75902128
CTexonicDe novostopgainNM_001285460
NM_006633
c.C1207T
c.C1357T
p.R403X
p.R453X
37.01.695E-5O’Roak2012b E
SRBD1     12238.p1chr2:
45789855-45789855
GAexonicDe novononsynonymous SNVNM_018079c.C1346Tp.T449M19.06-O’Roak2012b E
MSH6     13890.p1chr2:
48026852-48026852
GAexonicDe novononsynonymous SNVNM_001281492
NM_001281493
NM_000179
NM_001281494
c.G1340A
c.G824A
c.G1730A
c.G824A
p.R447H
p.R275H
p.R577H
p.R275H
22.44.137E-5O’Roak2012b E
YTHDC2     11788.p1chr5:
112868624-112868624
CTexonicDe novononsynonymous SNVNM_022828c.C724Tp.R242C21.4-O’Roak2012b E
PRKCA     12744.p1chr17:
64684446-64684446
GAexonicDe novononsynonymous SNVNM_002737c.G713Ap.R238Q34.08.242E-6O’Roak2012b E
MSANTD3     12532.p1chr9:
103213020-103213020
AGexonicDe novosynonymous SNVNM_001198805
NM_001198806
NM_080655
c.A600G
c.A600G
c.A600G
p.E200E
p.E200E
p.E200E
--O’Roak2012b E
APLF     11459.p1chr2:
68794512-68794512
GAexonicDe novosynonymous SNVNM_173545c.G1326Ap.T442T-4.242E-5O’Roak2012b E
PTGR1     11526.p1chr9:
114341206-114341206
CTexonicDe novononsynonymous SNVNM_001146108
NM_001146109
NM_012212
c.G521A
c.G521A
c.G521A
p.G174E
p.G174E
p.G174E
16.61-O’Roak2012b E
DNAH17     11587.p1chr17:
76420174-76420174
GAexonicDe novononsynonymous SNVNM_173628c.C13202Tp.P4401L34.02.0E-4O’Roak2012b E
PCDHB4     13793.p1chr5:
140503243-140503243
GCexonicDe novononsynonymous SNVNM_018938c.G1663Cp.D555H21.0-O’Roak2012b E
BSPRY     11788.p1chr9:
116122804-116122804
GAexonicDe novosynonymous SNVNM_017688c.G318Ap.A106A--O’Roak2012b E
GPS1     13629.p1chr17:
80014816-80014816
GAexonicDe novononsynonymous SNVNM_004127
NM_212492
c.G1367A
c.G1475A
p.R456Q
p.R492Q
32.0-O’Roak2012b E
DUS1L     13274.p1chr17:
80020802-80020802
GAexonicDe novononsynonymous SNVNM_022156c.C445Tp.R149C15.981.668E-5O’Roak2012b E
PHF19     12304.p1chr9:
123636848-123636848
CTexonicDe novononsynonymous SNVNM_001009936
NM_001286840
NM_001286843
NM_015651
c.G172A
c.G229A
c.G172A
c.G172A
p.G58R
p.G77R
p.G58R
p.G58R
29.7-O’Roak2012b E
NAXD     12161.p1chr13:
111290774-111290774
CTexonicDe novostopgainNM_001242883
NM_001242881
NM_001242882
c.C613T
c.C943T
c.C889T
p.Q205X
p.Q315X
p.Q297X
17.9-O’Roak2012b E
RFX8     12641.p1chr2:
102014147-102014147
CTexonicDe novononsynonymous SNVNM_001145664c.G1285Ap.A429T0.007-O’Roak2012b E
SH2D3C     12233.p1chr9:
130513455-130513455
CTexonicDe novononsynonymous SNVNM_001142533
NM_001142534
NM_005489
NM_001252334
NM_170600
c.G206A
c.G200A
c.G209A
c.G476A
c.G680A
p.R69Q
p.R67Q
p.R70Q
p.R159Q
p.R227Q
29.51.652E-5O’Roak2012b E
ROCK1     11599.p1chr18:
18572849-18572849
GAexonicDe novosynonymous SNVNM_005406c.C1935Tp.L645L-1.653E-5O’Roak2012b E
PTGES     13822.p1chr9:
132501907-132501907
CTexonicDe novononsynonymous SNVNM_004878c.G442Ap.A148T13.65-O’Roak2012b E
CHD8     13844.p1chr14:
21871178-21871178
GAexonicDe novostopgainNM_001170629
NM_020920
c.C3712T
c.C2875T
p.Q1238X
p.Q959X
35.0-O’Roak2012b E
MYO7B     12933.p1chr2:
128381815-128381815
CTexonicDe novononsynonymous SNVNM_001080527c.C3889Tp.R1297W14.423.892E-5O’Roak2012b E
TRAPPC8     13844.p1chr18:
29444743-29444743
TCexonicDe novosynonymous SNVNM_014939c.A2592Gp.G864G--O’Roak2012b E
PAEP     11109.p1chr9:
138454266-138454266
GTexonicDe novononsynonymous SNVNM_001018048
NM_001018049
NM_002571
c.G157T
c.G223T
c.G223T
p.V53F
p.V75F
p.V75F
2.072-O’Roak2012b E
UGGT1     13274.p1chr2:
128938561-128938561
GAexonicDe novononsynonymous SNVNM_020120c.G3998Ap.R1333H22.0-O’Roak2012b E
SLC7A7     12300.p1chr14:
23243580-23243580
GAexonicDe novostopgainNM_001126105
NM_001126106
c.C1228T
c.C1228T
p.R410X
p.R410X
38.01.648E-5O’Roak2012b E
FAF2     13169.p1chr5:
175933795-175933795
GAexonicDe novosynonymous SNVNM_014613c.G1182Ap.L394L--O’Roak2012b E
SETBP1     12933.p1chr18:
42532021-42532022
CCCGGexonicDe novoframeshift substitutionNM_015559c.2717_2717delinsGGN/A--O’Roak2012b E
TSPAN17     11291.p1chr5:
176078840-176078840
CAexonicDe novostopgainNM_001006616
NM_012171
NM_130465
c.C224A
c.C224A
c.C224A
p.S75X
p.S75X
p.S75X
37.0-O’Roak2012b E
KATNAL2     11872.p1chr18:
44603833-44603833
GCsplicingDe novosplicing16.29-O’Roak2012b E
DHRS4L1   12015.p1chr14:
24513037-24513037
GAintronicDe novo1.038-O’Roak2012b E
UIMC1     12285.p1chr5:
176409516-176409516
CTexonicDe novononsynonymous SNVNM_001199298
NM_016290
NM_001199297
c.G101A
c.G101A
c.G101A
p.R34H
p.R34H
p.R34H
19.25.766E-5O’Roak2012b E
ABCA2     12225.p1chr9:
139906388-139906388
CTexonicDe novononsynonymous SNVNM_001606
NM_212533
c.G5443A
c.G5533A
p.V1815M
p.V1845M
15.358.46E-6O’Roak2012b E
TCF4     12358.p1chr18:
52928697-52928697
CTexonicDe novosynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.G510A
c.G510A
c.G510A
c.G777A
c.G600A
c.G777A
c.G864A
c.G918A
c.G984A
c.G918A
c.G990A
c.G1008A
c.G990A
c.G1296A
p.S170S
p.S170S
p.S170S
p.S259S
p.S200S
p.S259S
p.S288S
p.S306S
p.S328S
p.S306S
p.S330S
p.S336S
p.S330S
p.S432S
--O’Roak2012b E
NR4A2     11172.p1chr2:
157185876-157185876
AGexonicDe novononsynonymous SNVNM_006186c.T823Cp.Y275H20.5-O’Roak2012b E
SLC34A3     11715.p1chr9:
140127091-140127091
CTexonicDe novosynonymous SNVNM_001177316
NM_001177317
NM_080877
c.C240T
c.C240T
c.C240T
p.L80L
p.L80L
p.L80L
-1.686E-5O’Roak2012b E
PSMG4     11064.p1chr6:
3263960-3263960
GAexonicDe novononsynonymous SNVNM_001128591
NM_001128592
NM_001135750
c.G217A
c.G217A
c.G217A
p.D73N
p.D73N
p.D73N
16.59-O’Roak2012b E
PNPLA7     12249.p1chr9:
140357232-140357232
TGexonicDe novononsynonymous SNVNM_152286
NM_001098537
c.A3322C
c.A3397C
p.S1108R
p.S1133R
20.1-O’Roak2012b E
DPP4     13409.p1chr2:
162865169-162865169
TCexonicDe novosynonymous SNVNM_001935c.A1890Gp.S630S--O’Roak2012b E
POLRMT     13333.p1chr19:
630058-630058
GAexonicDe novostopgainNM_005035c.C304Tp.Q102X17.42-O’Roak2012b E
UBR3     12161.p1chr2:
170732427-170732430
CAAACCexonicDe novoframeshift substitutionNM_172070c.813_815CN/A--O’Roak2012b E
GRIN3B     12212.p1chr19:
1004871-1004871
CTexonicDe novosynonymous SNVNM_138690c.C1371Tp.D457D-2.0E-4O’Roak2012b E
PCNX1     13222.p1chr14:
71555929-71555929
AGexonicDe novononsynonymous SNVNM_001308160
NM_014982
c.A5126G
c.A5459G
p.Y1709C
p.Y1820C
24.72.485E-5O’Roak2012b E
PSEN1     12304.p1chr14:
73685855-73685855
CTexonicDe novononsynonymous SNVNM_000021
NM_007318
c.C1262T
c.C1250T
p.T421I
p.T417I
18.22-O’Roak2012b E
USP15     12521.p1chr12:
62775296-62775300
CTGAGCexonicDe novoframeshift deletionNM_006313
NM_001252078
c.855_858del
c.942_945del
p.T285fs
p.T314fs
--O’Roak2012b E
GAD1     12630.p1chr2:
171704248-171704248
GAexonicDe novosynonymous SNVNM_000817c.G1065Ap.P355P-2.471E-5O’Roak2012b E
ASAH2     11715.p1chr10:
52005130-52005130
TTGexonicDe novoframeshift insertionNM_001143974
NM_019893
c.211dupC
c.211dupC
p.Q71fs
p.Q71fs
--O’Roak2012b E
KIAA0319     12621.p1chr6:
24564464-24564464
CTexonicDe novosynonymous SNVNM_001252328
NM_001168376
NM_001168375
NM_001168377
NM_014809
NM_001168374
c.G630A
c.G2262A
c.G2397A
c.G2397A
c.G2397A
c.G2370A
p.S210S
p.S754S
p.S799S
p.S799S
p.S799S
p.S790S
-1.65E-5O’Roak2012b E
BRSK2     13415.p1chr11:
1466811-1466814
GAGAGexonicDe novononframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.989_991del
c.989_991del
c.1127_1129del
c.809_811del
c.989_991del
p.330_331del
p.330_331del
p.376_377del
p.270_271del
p.330_331del
--O’Roak2012b E
CUBN     13844.p1chr10:
17127755-17127755
GAexonicDe novostopgainNM_001081c.C1951Tp.R651X41.0-O’Roak2012b E
PDCD1     11707.p1chr2:
242795103-242795104
TGTexonicDe novoframeshift deletionNM_005018c.105delCp.P35fs--O’Roak2012b E
GNA11     13346.p1chr19:
3118953-3118953
CAexonicDe novosynonymous SNVNM_002067c.C637Ap.R213R--O’Roak2012b E
TTN     13557.p1chr2:
179436520-179436520
CTexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G47144A
c.G47519A
c.G47720A
c.G66635A
c.G69416A
c.G74339A
p.R15715Q
p.R15840Q
p.R15907Q
p.R22212Q
p.R23139Q
p.R24780Q
18.131.66E-5O’Roak2012b E
IRF2BPL     11480.p1chr14:
77494046-77494046
GCexonicDe novononsynonymous SNVNM_024496c.C90Gp.F30L14.94-O’Roak2012b E
TBR1     11480.p1chr2:
162273322-162273323
ACAexonicDe novoframeshift deletionNM_006593c.402delCp.H134fs--O’Roak2012b E
ARID1B     13447.p1chr6:
157527664-157527668
CTGTTCexonicDe novoframeshift deletionNM_017519
NM_020732
c.5351_5354del
c.5390_5393del
p.L1784fs
p.L1797fs
--O’Roak2012b E
HDGFL2     11184.p1chr19:
4475539-4475539
GAexonicDe novononsynonymous SNVNM_001001520
NM_032631
c.G247A
c.G247A
p.E83K
p.E83K
34.0-O’Roak2012b E
HNRNPF     11043.p1chr10:
43883191-43883191
TCexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
10.65-O’Roak2012b E
MBD5     12346.p1chr2:
149225965-149225967
GTCGexonicDe novoframeshift deletionNM_018328c.454_455delp.S152fs--O’Roak2012b E
SAFB     11303.p1chr19:
5657356-5657356
TCexonicDe novosynonymous SNVNM_001201340
NM_001201338
NM_001201339
NM_002967
c.T1653C
c.T1860C
c.T1860C
c.T1860C
p.H551H
p.H620H
p.H620H
p.H620H
--O’Roak2012b E
SLC40A1     11480.p1chr2:
190428392-190428392
AGexonicDe novosynonymous SNVNM_014585c.T1320Cp.N440N--O’Roak2012b E
CDC42BPB     13606.p1chr14:
103434646-103434646
GAexonicDe novostopgainNM_006035c.C2290Tp.R764X23.0-O’Roak2012b E
MUC16     11545.p1chr19:
9074510-9074510
TAexonicDe novononsynonymous SNVNM_024690c.A12936Tp.R4312S0.582-O’Roak2012b E
PTEN     11390.p1chr10:
89711882-89711882
CAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-O’Roak2012b E
CNOT3     12444.p1chr19:
54656675-54656677
CTGCexonicDe novoframeshift deletionNM_014516c.1977_1978delp.T659fs--O’Roak2012b E
PACS2     12015.p1chr14:
105843213-105843213
GAexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.G910A
c.G685A
c.G910A
p.D304N
p.D229N
p.D304N
20.8-O’Roak2012b E
ADNP     12130.p1chr20:
49510027-49510029
CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531
c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del
p.K408fs
p.K408fs
p.K408fs
p.K408fs
--O’Roak2012b E
EIF3G     12198.p1chr19:
10229773-10229773
GAexonicDe novosynonymous SNVNM_003755c.C142Tp.L48L--O’Roak2012b E
COL12A1     12390.p1chr6:
75875492-75875492
CTexonicDe novononsynonymous SNVNM_004370c.G2714Ap.R905H14.422.0E-4O’Roak2012b E
SETD2     12565.p1chr3:
47098932-47098933
ATAexonicDe novoframeshift deletionNM_014159c.6341delAp.N2114fs--O’Roak2012b E
NOLC1     13494.p1chr10:
103917282-103917282
TGexonicDe novononsynonymous SNVNM_001284388
NM_001284389
NM_004741
c.T411G
c.T414G
c.T411G
p.D137E
p.D138E
p.D137E
0.013.0E-4O’Roak2012b E
STK36     12335.p1chr2:
219537583-219537583
GAexonicDe novononsynonymous SNVNM_001243313
NM_015690
c.G31A
c.G31A
p.G11R
p.G11R
36.0-O’Roak2012b E
FBXW9     13926.p1chr19:
12800074-12800074
CTexonicDe novononsynonymous SNVNM_032301c.G1333Ap.G445S17.291.66E-5O’Roak2012b E
CUL3     11452.p1chr2:
225376218-225376218
CAexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-O’Roak2012b E
GJA10     13798.p1chr6:
90605047-90605047
AGexonicDe novononsynonymous SNVNM_032602c.A860Gp.N287S10.84-O’Roak2012b E
CACNA1A     11660.p1chr19:
13445217-13445217
CGexonicDe novosynonymous SNVNM_001127221
NM_001127222
c.G1173C
c.G1173C
p.G391G
p.G391G
--O’Roak2012b E
C15orf62     12212.p1chr15:
41063220-41063220
ATexonicDe novostoplossNM_001130448c.A527Tp.X176L8.388-O’Roak2012b E
ARMC9     11246.p1chr2:
232127057-232127057
CGexonicDe novosynonymous SNVNM_001291656
NM_025139
c.C1065G
c.C1065G
p.T355T
p.T355T
6.772-O’Roak2012b E
FAM45A     12011.p1chr10:
120877119-120877119
GAexonicDe novononsynonymous SNVNM_001303112
NM_207009
NM_001303111
c.G202A
c.G421A
c.G397A
p.G68S
p.G141S
p.G133S
34.01.648E-5O’Roak2012b E
NOTCH3     11193.p1chr19:
15290235-15290235
CGexonicDe novononsynonymous SNVNM_000435c.G3400Cp.G1134R22.8-O’Roak2012b E
VPS39     11056.p1chr15:
42461938-42461938
AGexonicDe novononsynonymous SNVNM_015289
NM_001301138
c.T1217C
c.T1250C
p.I406T
p.I417T
16.53-O’Roak2012b E
CHD8     12752.p1chr14:
21861376-21861378
ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.6355_6356del
c.5518_5519del
p.S2119fs
p.S1840fs
--O’Roak2012b E
STARD9     12249.p1chr15:
42979758-42979758
TGexonicDe novononsynonymous SNVNM_020759c.T5982Gp.F1994L12.015.333E-5O’Roak2012b E
DNAH5     11610.p1chr5:
13923403-13923404
CACexonicDe novoframeshift deletionNM_001369c.423delTp.P141fs--O’Roak2012b E
PTPRK     13629.p1chr6:
128326372-128326372
CTexonicDe novononsynonymous SNVNM_001135648
NM_001291981
NM_001291984
NM_002844
NM_001291982
NM_001291983
c.G2351A
c.G2351A
c.G2348A
c.G2351A
c.G2381A
c.G2036A
p.R784H
p.R784H
p.R783H
p.R784H
p.R794H
p.R679H
24.32.502E-5O’Roak2012b E
MKI67     13530.p1chr10:
129903200-129903200
AGexonicDe novononsynonymous SNVNM_001145966
NM_002417
c.T5824C
c.T6904C
p.W1942R
p.W2302R
0.004-O’Roak2012b E
CDHR5     12641.p1chr11:
618678-618678
TGexonicDe novosynonymous SNVNM_001171968
NM_021924
c.A1863C
c.A1881C
p.T621T
p.T627T
--O’Roak2012b E
HDLBP     11610.p1chr2:
242186202-242186202
CAexonicDe novononsynonymous SNVNM_001243900
NM_005336
NM_203346
c.G1816T
c.G1915T
c.G1915T
p.A606S
p.A639S
p.A639S
20.8-O’Roak2012b E
TATDN2       12741.p1chr3:
10302080-10302080
CGexonicDe novononsynonymous SNVNM_014760c.C674Gp.A225G11.218.255E-6O’Roak2012b E
GCOM1     13757.p1chr15:
58001003-58001006
AGAAAexonicDe novononframeshift deletionNM_015532
NM_001285900
c.206_208del
c.1397_1399del
p.69_70del
p.466_467del
--O’Roak2012b E
ZNF420     13335.p1chr19:
37618120-37618120
TCexonicDe novononsynonymous SNVNM_144689c.T227Cp.L76P1.652-O’Roak2012b E
PGD     13733.p1chr1:
10473286-10473286
CTexonicDe novosynonymous SNVNM_001304451
NM_001304452
NM_002631
c.C756T
c.C783T
c.C822T
p.Y252Y
p.Y261Y
p.Y274Y
-2.479E-5O’Roak2012b E
DDI2     12603.p1chr1:
15956938-15956938
TGexonicDe novosynonymous SNVNM_032341c.T387Gp.P129P--O’Roak2012b E
TRPM5     11510.p1chr11:
2428988-2428988
CTsplicingDe novosplicing16.863.345E-5O’Roak2012b E
RYR1     12373.p1chr19:
39038884-39038884
AGexonicDe novononsynonymous SNVNM_001042723
NM_000540
c.A12091G
c.A12106G
p.N4031D
p.N4036D
14.79-O’Roak2012b E
MEGF11     11205.p1chr15:
66208524-66208524
GAexonicDe novononsynonymous SNVNM_032445c.C2306Tp.T769I20.7-O’Roak2012b E
ARHGEF10L     11989.p1chr1:
17907117-17907117
GTexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.G27T
c.G27T
p.Q9H
p.Q9H
15.95-O’Roak2012b E
TIPIN     12238.p1chr15:
66629505-66629505
TCexonicDe novononsynonymous SNVNM_001289986
NM_017858
c.A394G
c.A697G
p.T132A
p.T233A
7.742-O’Roak2012b E
GPR146     11518.p1chr7:
1097719-1097719
AGexonicDe novononsynonymous SNVNM_001303473
NM_138445
NM_001303474
c.A568G
c.A568G
c.A568G
p.T190A
p.T190A
p.T190A
10.12-O’Roak2012b E
GMFG     11895.p1chr19:
39819156-39819156
AGexonicDe novosynonymous SNVNM_001301008
NM_004877
c.T267C
c.T390C
p.T89T
p.T130T
--O’Roak2012b E
OR2D2     11599.p1chr11:
6913162-6913162
TCexonicDe novosynonymous SNVNM_003700c.A570Gp.T190T--O’Roak2012b E
ISLR2     11459.p1chr15:
74425536-74425536
CTexonicDe novosynonymous SNVNM_020851
NM_001130136
NM_001130137
NM_001130138
c.C441T
c.C441T
c.C441T
c.C441T
p.P147P
p.P147P
p.P147P
p.P147P
-2.489E-5O’Roak2012b E
CTNNB1     12703.p1chr3:
41275757-41275757
CTexonicDe novononsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.C1652T
c.C1652T
c.C1652T
p.T551M
p.T551M
p.T551M
15.0-O’Roak2012b E
SLC9A1     13177.p1chr1:
27440599-27440599
CGexonicDe novosynonymous SNVNM_003047c.G531Cp.L177L--O’Roak2012b E
LIPE     12011.p1chr19:
42910539-42910539
GAexonicDe novosynonymous SNVNM_005357c.C2139Tp.G713G-8.432E-6O’Roak2012b E
SESN2     11843.p1chr1:
28595739-28595739
GAexonicDe novononsynonymous SNVNM_031459c.G136Ap.A46T27.0-O’Roak2012b E
NAV2     11459.p1chr11:
20119143-20119143
CTexonicDe novosynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3225T
c.C5841T
c.C6033T
c.C6042T
c.C6210T
p.D1075D
p.D1947D
p.D2011D
p.D2014D
p.D2070D
--O’Roak2012b E
HTATIP2     13048.p1chr11:
20404729-20404729
CTexonicDe novononsynonymous SNVNM_001098522
NM_001098520
NM_001098521
NM_006410
c.C707T
c.C809T
c.C707T
c.C707T
p.A236V
p.A270V
p.A236V
p.A236V
12.812.503E-5O’Roak2012b E
SLC17A6     11346.p1chr11:
22397637-22397637
TAexonicDe novosynonymous SNVNM_020346c.T1284Ap.S428S--O’Roak2012b E
PLEKHA8     12152.p1chr7:
30085846-30085846
CAexonicDe novononsynonymous SNVNM_001197026
NM_001197027
NM_032639
c.C178A
c.C178A
c.C178A
p.R60S
p.R60S
p.R60S
22.7-O’Roak2012b E
AP3B2     11224.p1chr15:
83346497-83346497
CTexonicDe novononsynonymous SNVNM_001278511
NM_001278512
NM_004644
c.G1208A
c.G1304A
c.G1304A
p.R403H
p.R435H
p.R435H
34.01.051E-5O’Roak2012b E
DET1     11425.p1chr15:
89056251-89056251
GAexonicDe novosynonymous SNVNM_001144074
NM_017996
c.C1584T
c.C1617T
p.F528F
p.F539F
-4.973E-5O’Roak2012b E
DEPDC7     11459.p1chr11:
33053025-33053025
CTexonicDe novononsynonymous SNVNM_001077242
NM_139160
c.C884T
c.C857T
p.T295I
p.T286I
9.64-O’Roak2012b E
SFPQ     11193.p1chr1:
35656105-35656105
TCexonicDe novononsynonymous SNVNM_005066c.A1409Gp.Y470C23.0-O’Roak2012b E
EHD2     12741.p1chr19:
48221860-48221860
CTexonicDe novononsynonymous SNVNM_014601c.C499Tp.R167C18.823.765E-5O’Roak2012b E
MAP4     13822.p1chr3:
47969769-47969769
CAexonicDe novononsynonymous SNVNM_001134364
NM_002375
c.G364T
c.G364T
p.D122Y
p.D122Y
13.89-O’Roak2012b E
INPP5B     12703.p1chr1:
38411441-38411441
CTexonicDe novononsynonymous SNVNM_005540c.G139Ap.G47S8.246-O’Roak2012b E
RGMA     13333.p1chr15:
93588446-93588446
CTexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.G1087A
c.G1159A
c.G1087A
c.G1087A
c.G1087A
c.G1135A
p.V363I
p.V387I
p.V363I
p.V363I
p.V363I
p.V379I
24.9-O’Roak2012b E
ACP2     13335.p1chr11:
47270271-47270271
CTexonicDe novononsynonymous SNVNM_001302490
NM_001302491
NM_001610
c.G70A
c.G70A
c.G70A
p.V24M
p.V24M
p.V24M
21.4-O’Roak2012b E
H2AFV     13606.p1chr7:
44875212-44875212
GAexonicDe novononsynonymous SNVNM_201436
NM_201517
NM_012412
NM_138635
c.C163T
c.C127T
c.C241T
c.C241T
p.R55C
p.R43C
p.R81C
p.R81C
23.2-O’Roak2012b E
LAMB2     12444.p1chr3:
49166218-49166218
CGexonicDe novononsynonymous SNVNM_002292c.G1766Cp.G589A12.74-O’Roak2012b E
RNF123     12237.p1chr3:
49743440-49743440
AGexonicDe novononsynonymous SNVNM_022064c.A2330Gp.N777S13.54.943E-5O’Roak2012b E
MST1R     11472.p1chr3:
49933686-49933686
TCexonicDe novononsynonymous SNVNM_001244937
NM_002447
c.A2591G
c.A2591G
p.H864R
p.H864R
6.143-O’Roak2012b E
ERV3-1     11599.p1chr7:
64452895-64452895
CTexonicDe novosynonymous SNVNM_001007253c.G510Ap.T170T-5.909E-5O’Roak2012b E
LRRK1