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Results for "O’Roak2014"

Variant Events: 154

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
SLC6A1     211-5563-3chr3:
11067982-11067982		TCexonicDe novononsynonymous SNVNM_003042c.T1015Cp.F339L34.0-O’Roak2014 T
SLC6A1     ZH50743chr3:
11060364-11060365		CTCexonicDe novoframeshift deletionNM_003042c.452delTp.L151fs--O’Roak2014 T
SHANK3     217-14410-5190chr22:
51159850-51159850		AGexonicDe novononsynonymous SNVNM_033517c.A3547Gp.S1183G17.79-O’Roak2014 T
SHANK3     14470.p1chr22:
51159932-51159932		TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4O’Roak2014 T
STXBP1     MR-NET001chr9:
130422307-130422308		AGAsplicingDe novosplicing--O’Roak2014 T
SYNGAP1     217-14271-3940chr6:
33399974-33399975		CACexonicDe novoframeshift deletionNM_006772c.333delAp.P111fs--O’Roak2014 T
STXBP1     P4276chr9:
130420659-130420659		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G175A
c.G175A		p.E59K
p.E59K		36.0-O’Roak2014 T
STXBP1     ES07E0046chr9:
130422363-130422363		GCexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G301C
c.G301C		p.A101P
p.A101P		36.0-O’Roak2014 T
SYNGAP1     212-21043-1chr6:
33408610-33408611		TCTexonicDe novoframeshift deletionNM_006772c.1782delCp.F594fs--O’Roak2014 T
SYNGAP1     16chr6:
33402928-33402928		GAsplicingDe novosplicing16.05-O’Roak2014 T
SYNGAP1     BO14/09chr6:
33410958-33410958		CCTexonicDe novoframeshift insertionNM_006772c.2630dupTp.L877fs--O’Roak2014 T
SYNGAP1     ER53899chr6:
33405933-33405935		TAATexonicDe novoframeshift deletionNM_006772c.1252_1253delp.K418fs--O’Roak2014 T
TRIP12     211-5613-4chr2:
230666966-230666967		ACAsplicingDe novosplicing--O’Roak2014 T
VCP     220-9860-201chr9:
35061615-35061615		TGexonicDe novononsynonymous SNVNM_007126c.A1153Cp.T385P23.7-O’Roak2014 T
TBR1     220-9833-201chr2:
162276743-162276743		AGexonicDe novononsynonymous SNVNM_006593c.A1165Gp.K389E23.1-O’Roak2014 T
TBR1     214-17068-1chr2:
162274307-162274307		GTexonicDe novononsynonymous SNVNM_006593c.G813Tp.W271C19.13-O’Roak2014 T
CHAMP1     BO15/10chr13:
115090509-115090509		CTexonicDe novostopgainNM_001164144
NM_001164145
NM_032436		c.C1192T
c.C1192T
c.C1192T		p.R398X
p.R398X
p.R398X		38.0-O’Roak2014 T
ADNP     13545.p1chr20:
49509094-49509094		GGTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--O’Roak2014 T
BCL11A     13183.p1chr2:
60689253-60689253		AAGexonicDe novoframeshift insertionNM_018014
NM_022893		c.793dupC
c.793dupC		p.L265fs
p.L265fs		-2.0E-4O’Roak2014 T
WAC     40chr10:
28824551-28824551		CTexonicDe novostopgainNM_016628
NM_100264
NM_100486		c.C139T
c.C4T
c.C139T		p.R47X
p.R2X
p.R47X		38.0-O’Roak2014 T
WDR33     215-13170-1873chr2:
128522378-128522378		GAexonicDe novononsynonymous SNVNM_001006622c.C650Tp.S217F15.21-O’Roak2014 T
ACHE     14085.p1chr7:
100488870-100488870		GAexonicDe novononsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831		c.C1643T
c.C1379T
c.C1643T
c.C1643T
c.C1643T		p.P548L
p.P460L
p.P548L
p.P548L
p.P548L		21.0-O’Roak2014 T
PRPF39     10C102529chr14:
45571806-45571806		GAexonicDe novostopgainNM_017922c.G644Ap.W215X25.2-O’Roak2014 T
ACHE     14533.p1chr7:
100491403-100491403		CTexonicDe novononsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831		c.G451A
c.G451A
c.G451A
c.G451A
c.G451A		p.G151R
p.G151R
p.G151R
p.G151R
p.G151R		27.7-O’Roak2014 T
MED13L     12969.p1chr12:
116418553-116418553		AACsplicingDe novosplicing--O’Roak2014 T
TUBGCP4     13537.p1chr15:
43694048-43694052		TGTAATsplicingDe novosplicing--O’Roak2014 T
CHD8     14406.p1chr14:
21854022-21854025		GGGTGexonicDe novononframeshift deletionNM_001170629
NM_020920		c.7493_7495del
c.6656_6658del		p.2498_2499del
p.2219_2220del		--O’Roak2014 T
CHD8     14233.p1chr14:
21859175-21859175		AATexonicDe novoframeshift insertionNM_001170629
NM_020920		c.7112dupA
c.6275dupA		p.N2371fs
p.N2092fs		--O’Roak2014 T
CHD8     12991.p1chr14:
21861643-21861647		TCTTCTexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6307_6310del
c.5470_5473del		p.E2103fs
p.E1824fs		--O’Roak2014 T
CHD8     14016.p1chr14:
21870169-21870169		GAexonicDe novostopgainNM_001170629
NM_020920		c.C4009T
c.C3172T		p.R1337X
p.R1058X		36.0-O’Roak2014 T
CHD8     13844.p1chr14:
21871178-21871178		GAexonicDe novostopgainNM_001170629
NM_020920		c.C3712T
c.C2875T		p.Q1238X
p.Q959X		35.0-O’Roak2014 T
CHD8     11654.p1chr14:
21871373-21871373		TCsplicingDe novosplicing19.43-O’Roak2014 T
WDR33     14596.p1chr2:
128481973-128481974		ATAexonicDe novostopgainNM_018383c.1129delAp.M377X--O’Roak2014 T
NCKAP1     12764.p1chr2:
183791570-183791570		CAexonicDe novostopgainNM_013436
NM_205842		c.G3244T
c.G3262T		p.E1082X
p.E1088X		48.0-O’Roak2014 T
CSDE1     13608.p1chr1:
115280664-115280664		GAexonicDe novostopgainNM_001242892
NM_001242893
NM_001007553
NM_007158
NM_001130523
NM_001242891		c.C229T
c.C229T
c.C229T
c.C229T
c.C367T
c.C367T		p.R77X
p.R77X
p.R77X
p.R77X
p.R123X
p.R123X		37.0-O’Roak2014 T
RALGAPA1     14617.p1chr14:
36096327-36096330		TAAGTexonicDe novononframeshift deletionNM_014990
NM_194301
NM_001283043
NM_001283044		c.5305_5307del
c.5305_5307del
c.5344_5346del
c.5446_5448del		p.1769_1769del
p.1769_1769del
p.1782_1782del
p.1816_1816del		--O’Roak2014 T
TBR1     13814.p1chr2:
162273603-162273603		AGexonicDe novononsynonymous SNVNM_006593c.A682Gp.K228E16.8-O’Roak2014 T
EEF1A2     14503.p1chr20:
62120390-62120390		CTexonicDe novononsynonymous SNVNM_001958c.G1145Ap.R382H17.85-O’Roak2014 T
TBL1XR1     14612.p1chr3:
176752047-176752048		TATexonicDe novoframeshift deletionNM_024665c.1188delTp.T396fs--O’Roak2014 T
TBL1XR1     12335.p1chr3:
176765107-176765107		AGexonicDe novononsynonymous SNVNM_024665c.T845Cp.L282P21.9-O’Roak2014 T
UBR3     12161.p1chr2:
170732427-170732430		CAAACCexonicDe novoframeshift substitutionNM_172070c.813_815CN/A--O’Roak2014 T
TRIP12     12867.p1chr2:
230701696-230701696		GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214		c.C103T
c.C1012T
c.C1012T
c.C1138T		p.R35X
p.R338X
p.R338X
p.R380X		38.0-O’Roak2014 T
TERF2     11084.p1chr16:
69401013-69401013		GCexonicDe novononsynonymous SNVNM_005652c.C1037Gp.A346G18.21-O’Roak2014 T
TCF3     09C97625chr19:
1619177-1619177		GGTexonicDe novoframeshift insertionNM_001136139
NM_003200		c.1382dupA
c.1382dupA		p.N461fs
p.N461fs		--O’Roak2014 T
TERF2     14620.p1chr16:
69404384-69404384		AGsplicingDe novosplicing16.87-O’Roak2014 T
DYRK1A     13890.p1chr21:
38865466-38865466		GAsplicingDe novosplicing28.2-O’Roak2014 T
NFIA     13670.p1chr1:
61553905-61553905		CTexonicDe novostopgainNM_001134673
NM_001145511
NM_005595
NM_001145512		c.C112T
c.C88T
c.C112T
c.C247T		p.R38X
p.R30X
p.R38X
p.R83X		40.0-O’Roak2014 T
TROVE2     12826.p1chr1:
193045125-193045129		ATTAGAexonicDe novoframeshift deletionNM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600		c.757_760del
c.757_760del
c.757_760del
c.757_760del
c.757_760del		p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs		--O’Roak2014 T
NUAK1     13349.p1chr12:
106461269-106461269		GAexonicDe novostopgainNM_014840c.C1297Tp.Q433X48.0-O’Roak2014 T
DSCAM     13735.p1chr21:
41414330-41414330		AATexonicDe novoframeshift insertionNM_001271534
NM_001389		c.5653dupA
c.5653dupA		p.M1885fs
p.M1885fs		--O’Roak2014 T
DSCAM     12329.p1chr21:
41457527-41457527		ATsplicingDe novosplicing22.0-O’Roak2014 T
DLL1     12653.p1chr6:
170593075-170593075		CCAexonicDe novoframeshift insertionNM_005618c.1291dupTp.C431fs--O’Roak2014 T
DSCAM     14597.p1chr21:
41457640-41457640		TTTAexonicDe novostopgainNM_001271534
NM_001389		c.4020_4021insTA
c.4020_4021insTA		p.N1341_G1342delinsX
p.N1341_G1342delinsX		--O’Roak2014 T
TBR1     13796.p1chr2:
162275481-162275481		AACexonicDe novoframeshift insertionNM_006593c.1049dupCp.T350fs--O’Roak2014 T
WAC     14200.p1chr10:
28879673-28879675		CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--O’Roak2014 T
TBR1     11480.p1chr2:
162273322-162273323		ACAexonicDe novoframeshift deletionNM_006593c.402delCp.H134fs--O’Roak2014 T
SYNGAP1     12804.p1chr6:
33403326-33403326		GAexonicDe novononsynonymous SNVNM_006772c.G698Ap.C233Y23.4-O’Roak2014 T
NCKAP1     14030.p1chr2:
183866861-183866861		CCCAexonicDe novoframeshift insertionNM_013436
NM_205842		c.505_506insTG
c.523_524insTG		p.G169fs
p.G175fs		--O’Roak2014 T
ZMYM2     09C95788chr13:
20641159-20641163		TGTAATsplicingDe novosplicing-8.711E-6O’Roak2014 T
CTTNBP2     13070.p1chr7:
117423007-117423009		TCATexonicDe novoframeshift deletionNM_033427c.2279_2280delp.V760fs--O’Roak2014 T
SMARCC2     09C90312chr12:
56566368-56566368		CAsplicingDe novosplicing18.68-O’Roak2014 T
CHD2     13618.p1chr15:
93524060-93524064		TAAAGTexonicDe novoframeshift deletionNM_001271c.2893_2896delp.K965fs--O’Roak2014 T
CACNA1D     12620.p1chr3:
53707152-53707152		GAexonicDe novononsynonymous SNVNM_001128839
NM_001128840		c.G1219A
c.G1219A		p.G407R
p.G407R		20.8-O’Roak2014 T
GRM5     12529.p1chr11:
88300812-88300815		ATCTAexonicDe novononframeshift deletionNM_001143831
NM_000842		c.2036_2038del
c.2036_2038del		p.679_680del
p.679_680del		--O’Roak2014 T
PPP2R5D     14550.p1chr6:
42975179-42975180		CTCexonicDe novoframeshift deletionNM_180977
NM_001270476
NM_006245
NM_180976		c.344delT
c.209delT
c.662delT
c.566delT		p.L115fs
p.L70fs
p.L221fs
p.L189fs		--O’Roak2014 T
PPP2R5D     11097.p1chr6:
42978887-42978887		AGexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.A1354G
c.A1219G
c.A1672G
c.A1576G		p.M452V
p.M407V
p.M558V
p.M526V		8.264-O’Roak2014 T
NFIA     14127.p1chr1:
61818236-61818236		CTexonicDe novononsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512		c.C815T
c.C791T
c.C815T
c.C950T		p.T272M
p.T264M
p.T272M
p.T317M		21.18.249E-6O’Roak2014 T
CHD8     12714.p1chr14:
21899618-21899618		GCexonicDe novostopgainNM_001170629c.C185Gp.S62X22.5-O’Roak2014 T
CHD8     13986.p1chr14:
21878133-21878133		GGTexonicDe novostopgainNM_001170629
NM_020920		c.2240dupA
c.1403dupA		p.Y747_L748delinsX
p.Y468_L469delinsX		--O’Roak2014 T
PTEN     14611.p1chr10:
89692920-89692920		TTAexonicDe novoframeshift insertionNM_000314
NM_001304717		c.405dupA
c.924dupA		p.I135fs
p.I308fs		--O’Roak2014 T
PTEN     13991.p1chr10:
89692790-89692790		GAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G274A
c.G793A		p.D92N
p.D265N		33.0-O’Roak2014 T
PTEN     14433.p1chr10:
89692908-89692908		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-O’Roak2014 T
CHD2     10C100480chr15:
93518170-93518170		AGexonicDe novononsynonymous SNVNM_001271c.A2567Gp.D856G19.58-O’Roak2014 T
PTEN     11390.p1chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-O’Roak2014 T
CNOT3     12444.p1chr19:
54656675-54656677		CTGCexonicDe novoframeshift deletionNM_014516c.1977_1978delp.T659fs--O’Roak2014 T
TBR1     09C86232Achr2:
162275553-162275553		ACexonicDe novononsynonymous SNVNM_006593c.A1120Cp.N374H17.63-O’Roak2014 T
GRIN2B     12681.p1chr12:
13722953-13722953		TCsplicingDe novosplicing17.06-O’Roak2014 T
ZMYND11     13513.p1chr10:
293337-293337		GAsplicingDe novosplicing26.9-O’Roak2014 T
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’Roak2014 T
GRIN2B     12547.p1chr12:
13764762-13764762		CTexonicDe novostopgainNM_000834c.G1677Ap.W559X41.0-O’Roak2014 T
GRIN2B     13932.p1chr12:
13768560-13768560		CTexonicDe novononsynonymous SNVNM_000834c.G1367Ap.C456Y27.6-O’Roak2014 T
GRIN2B     11691.p1chr12:
14019043-14019043		TTGexonicDe novoframeshift insertionNM_000834c.99dupCp.S34fs-2.0E-4O’Roak2014 T
CHD1     10C105228chr5:
98216794-98216794		GCexonicDe novononsynonymous SNVNM_001270c.C3046Gp.L1016V23.8-O’Roak2014 T
DYRK1A     13552.p1chr21:
38877833-38877834		GCGexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1488delC
c.1461delC
c.1488delC
c.1488delC		p.S496fs
p.S487fs
p.S496fs
p.S496fs		--O’Roak2014 T
DYRK1A     12099.p1chr21:
38845116-38845118		CATCexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.142_143del
c.142_143del
c.142_143del
c.142_143del		p.I48fs
p.I48fs
p.I48fs
p.I48fs		--O’Roak2014 T
PAX5     12858.p1chr9:
37015070-37015071		AGAexonicDe novoframeshift deletionNM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734		c.9delC
c.9delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC		p.A3fs
p.A3fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs		--O’Roak2014 T
TCF7L2     13069.p1chr10:
114901076-114901076		GAsplicingDe novosplicing29.5-O’Roak2014 T
TCF7L2     12090.p1chr10:
114910883-114910883		GAsplicingDe novosplicing19.91-O’Roak2014 T
TRIP12     13290.p1chr2:
230636299-230636299		GAexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214		c.C4709T
c.C5618T
c.C5519T
c.C5663T		p.S1570L
p.S1873L
p.S1840L
p.S1888L		34.0-O’Roak2014 T
SETD5     13576.p1chr3:
9489592-9489592		GAexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.G2005A
c.G1711A		p.G669R
p.G571R		21.4-O’Roak2014 T
VCP     13646.p1chr9:
35060455-35060460		TAGAACTexonicDe novoframeshift deletionNM_007126c.1545_1549delp.L515fs--O’Roak2014 T
TRIP12     12035.p1chr2:
230650558-230650558		CTexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214		c.G3974A
c.G4883A
c.G4784A
c.G4928A		p.R1325Q
p.R1628Q
p.R1595Q
p.R1643Q		36.0-O’Roak2014 T
SYNGAP1     13073.p1chr6:
33408650-33408652		CTTCexonicDe novoframeshift deletionNM_006772c.1822_1823delp.F608fs--O’Roak2014 T
PFKFB2     14508.p1chr1:
207237157-207237158		ATAexonicDe novoframeshift deletionNM_001018053
NM_006212		c.491delT
c.491delT		p.I164fs
p.I164fs		--O’Roak2014 T
CHD8     12752.p1chr14:
21861376-21861378		ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6355_6356del
c.5518_5519del		p.S2119fs
p.S1840fs		--O’Roak2014 T
TUBGCP4     13651.p1chr15:
43692324-43692324		CTexonicDe novononsynonymous SNVNM_001286414
NM_014444		c.C1504T
c.C1501T		p.R502C
p.R501C		16.61-O’Roak2014 T
NRXN1     12501.p1chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-O’Roak2014 T
EPRS     14648.p1chr1:
220170538-220170541		ATCTAexonicDe novononframeshift deletionNM_004446c.2325_2327delp.775_776del--O’Roak2014 T
EPRS     12247.p1chr1:
220195788-220195788		CTexonicDe novononsynonymous SNVNM_004446c.G1016Ap.R339Q36.0-O’Roak2014 T
ITGA5     10C104461chr12:
54793722-54793722		CAexonicDe novostopgainNM_002205c.G2800Tp.E934X43.0-O’Roak2014 T
SLC6A1     13832.p1chr3:
11067472-11067472		CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-O’Roak2014 T
GCOM1     13757.p1chr15:
58001002-58001005		TAGATexonicDe novononframeshift deletionNM_015532
NM_001285900		c.205_207del
c.1396_1398del		p.69_69del
p.466_466del		--O’Roak2014 T
SLC6A1     14340.p1chr3:
11076337-11076337		GAexonicDe novononsynonymous SNVNM_003042c.G1648Ap.G550R15.95-O’Roak2014 T
ADNP     211-5367-3chr20:
49508081-49508081		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3170A
c.T3170A
c.T3170A
c.T3170A		p.L1057X
p.L1057X
p.L1057X
p.L1057X		45.0-O’Roak2014 T
CHD2     215-13023-0303chr15:
93563256-93563256		CTexonicDe novostopgainNM_001271c.C4921Tp.Q1641X49.0-O’Roak2014 T
CHD8     220-9823-203chr14:
21876489-21876489		CTexonicDe novononsynonymous SNVNM_001170629
NM_020920		c.G2712A
c.G1875A		p.M904I
p.M625I		18.24-O’Roak2014 T
CHD8     211-5221-3chr14:
21865980-21865980		ATsplicingDe novosplicing15.92-O’Roak2014 T
SETD5     09C98906chr3:
9486949-9486949		GAexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.G1405A
c.G1111A		p.V469I
p.V371I		13.95-O’Roak2014 T
MYT1L     13898.p1chr2:
1921079-1921079		AGexonicDe novononsynonymous SNVNM_001303052
NM_015025		c.T1516C
c.T1510C		p.C506R
p.C504R		24.9-O’Roak2014 T
APBB1     14535.p1chr11:
6417424-6417424		GGCexonicDe novoframeshift insertionNM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689		c.1033dupG
c.916dupG
c.1027dupG
c.988dupG
c.916dupG
c.1693dupG
c.916dupG
c.1687dupG		p.A345fs
p.A306fs
p.A343fs
p.A330fs
p.A306fs
p.A565fs
p.A306fs
p.A563fs		--O’Roak2014 T
GPRASP1     13000.p1chrX:
101912889-101912889		AGexonicDe novononsynonymous SNVNM_001099411
NM_001099410
NM_014710
NM_001184727		c.A4048G
c.A4048G
c.A4048G
c.A4048G		p.K1350E
p.K1350E
p.K1350E
p.K1350E		9.188-O’Roak2014 T
NRXN1     217-14288-4090chr2:
50170866-50170867		AGAexonicDe novoframeshift deletionNM_138735
NM_004801
NM_001135659		c.996delC
c.4101delC
c.4311delC		p.P332fs
p.P1367fs
p.P1437fs		--O’Roak2014 T
PAX5     211-5583-3chr9:
37020768-37020768		AACexonicDe novoframeshift insertionNM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734		c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG		p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs		-1.0E-4O’Roak2014 T
STXBP1     09C92671chr9:
130444788-130444788		CTexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.C1651T
c.C1651T		p.R551C
p.R551C		34.0-O’Roak2014 T
CTNNB1     12211.p1chr3:
41275346-41275346		GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904		c.G1512A
c.G1512A
c.G1512A		p.W504X
p.W504X
p.W504X		42.0-O’Roak2014 T
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’Roak2014 T
NUAK1     14540.p1chr12:
106460608-106460608		GAexonicDe novononsynonymous SNVNM_014840c.C1958Tp.A653V33.05.075E-5O’Roak2014 T
GPRASP1     12871.p1chrX:
101911757-101911757		GTexonicDe novononsynonymous SNVNM_001099411
NM_001099410
NM_014710
NM_001184727		c.G2916T
c.G2916T
c.G2916T
c.G2916T		p.W972C
p.W972C
p.W972C
p.W972C		8.035-O’Roak2014 T
MED13L     14416.p1chr12:
116424952-116424952		CTexonicDe novostopgainNM_015335c.G4076Ap.W1359X45.0-O’Roak2014 T
CHD1     215-13004-0053chr5:
98208223-98208223		CTexonicDe novononsynonymous SNVNM_001270c.G3608Ap.R1203Q33.0-O’Roak2014 T
AGO1     11740.p1chr1:
36367118-36367118		CTexonicDe novononsynonymous SNVNM_001317123
NM_012199		c.C839T
c.C1064T		p.T280I
p.T355I		26.2-O’Roak2014 T
CHD2     MS134chr15:
93498741-93498742		AGAexonicDe novoframeshift deletionNM_001271c.1809delGp.K603fs--O’Roak2014 T
CHD2     13614.p1chr15:
93563244-93563244		CTexonicDe novostopgainNM_001271c.C4909Tp.R1637X49.0-O’Roak2014 T
EIF2AK2     14085.p1chr2:
37364142-37364142		GAexonicDe novostopgainNM_001135652
NM_001135651
NM_002759		c.C706T
c.C706T
c.C706T		p.Q236X
p.Q236X
p.Q236X		28.6-O’Roak2014 T
CHD2     13818.p1chr15:
93563282-93563282		TTGexonicDe novoframeshift insertionNM_001271c.4948dupGp.G1649fs--O’Roak2014 T
ADNP     213-8763-103chr20:
49510224-49510224		CCAexonicDe novoframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1026dupT
c.1026dupT
c.1026dupT
c.1026dupT		p.V343fs
p.V343fs
p.V343fs
p.V343fs		--O’Roak2014 T
CHD8     217-14255-3780chr14:
21882516-21882516		GTexonicDe novononsynonymous SNVNM_001170629
NM_020920		c.C2086A
c.C1249A		p.Q696K
p.Q417K		26.0-O’Roak2014 T
CHD8     214-17110-1chr14:
21862535-21862535		GAexonicDe novostopgainNM_001170629
NM_020920		c.C5500T
c.C4663T		p.R1834X
p.R1555X		46.0-O’Roak2014 T
PPM1D     12340.p1chr17:
58740376-58740376		GAexonicDe novostopgainNM_003620c.G1281Ap.W427X38.0-O’Roak2014 T
CHD8     217-14002-100chr14:
21868219-21868219		GAexonicDe novononsynonymous SNVNM_001170629
NM_020920		c.C4738T
c.C3901T		p.R1580W
p.R1301W		15.94-O’Roak2014 T
CHD8     220-9806-201chr14:
21899168-21899168		CTexonicDe novononsynonymous SNVNM_001170629c.G635Ap.R212Q22.62.586E-5O’Roak2014 T
CTNNB1     70chr3:
41275105-41275109		TTTCTTexonicDe novoframeshift deletionNM_001098209
NM_001098210
NM_001904		c.1272_1275del
c.1272_1275del
c.1272_1275del		p.L424fs
p.L424fs
p.L424fs		--O’Roak2014 T
CTTNBP2     ER47534chr7:
117417591-117417591		GAexonicDe novononsynonymous SNVNM_033427c.C2752Tp.H918Y26.9-O’Roak2014 T
CHD8     211-5264-4chr14:
21867866-21867866		TGsplicingDe novosplicing17.66-O’Roak2014 T
CNOT3     217-14342-4560chr19:
54649666-54649666		TTCexonicDe novoframeshift insertionNM_014516c.725dupCp.S242fs-0.0026O’Roak2014 T
GATAD2B     69chr1:
153785737-153785737		GAexonicDe novostopgainNM_020699c.C1408Tp.Q470X39.0-O’Roak2014 T
GPRASP1     CNV4-116chrX:
101911960-101911960		GAexonicDe novononsynonymous SNVNM_001099411
NM_001099410
NM_014710
NM_001184727		c.G3119A
c.G3119A
c.G3119A
c.G3119A		p.R1040H
p.R1040H
p.R1040H
p.R1040H		1.385-O’Roak2014 T
CHD1     14559.p1chr5:
98194693-98194693		CCAexonicDe novoframeshift insertionNM_001270c.4550dupTp.L1517fs--O’Roak2014 T
EEF1A2     91chr20:
62127325-62127325		CTexonicDe novononsynonymous SNVNM_001958c.G208Ap.G70S34.0-O’Roak2014 T
AGO1     DD15852chr1:
36359331-36359331		TCexonicDe novononsynonymous SNVNM_001317123
NM_012199		c.T344C
c.T569C		p.L115P
p.L190P		20.6-O’Roak2014 T
GRIN2B     216-4499-1chr12:
13768129-13768129		ACexonicDe novononsynonymous SNVNM_000834c.T1573Gp.F525V32.0-O’Roak2014 T
MYT1L     92chr2:
1891259-1891259		CTsplicingDe novosplicing18.58-O’Roak2014 T
GRB14     TUPHchr2:
165381589-165381589		CAsplicingDe novosplicing24.6-O’Roak2014 T
GRIN2B     25chr12:
13764781-13764781		GAexonicDe novononsynonymous SNVNM_000834c.C1658Tp.P553L19.92-O’Roak2014 T
PDHA1     59chrX:
19369434-19369434		CAGAexonicDe novoframeshift substitutionNM_000284
NM_001173455
NM_001173456
NM_001173454		c.327_327delinsAGA
c.348_348delinsAGA
c.327_327delinsAGA
c.441_441delinsAGA		N/A
N/A
N/A
N/A		--O’Roak2014 T
PPP2R5D     72chr6:
42974252-42974252		CTexonicDe novononsynonymous SNVNM_006245
NM_180976		c.C157T
c.C157T		p.P53S
p.P53S		9.939-O’Roak2014 T
CACNA1D     11872.p1chr3:
53764493-53764493		CGexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720		c.C2246G
c.C2246G
c.C2306G		p.A749G
p.A749G
p.A769G		31.0-O’Roak2014 T
NRXN1     211-5380-3chr2:
50733692-50733692		CTexonicDe novononsynonymous SNVNM_004801
NM_001135659		c.G2438A
c.G2558A		p.R813H
p.R853H		30.04.247E-5O’Roak2014 T
PAX5     220-9860-201chr9:
37033983-37033983		CGexonicDe novononsynonymous SNVNM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734		c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C		p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R		25.6-O’Roak2014 T
SETD5     ER14209chr3:
9490270-9490270		CTexonicDe novostopgainNM_001080517
NM_001292043		c.C2302T
c.C2008T		p.R768X
p.R670X		46.0-O’Roak2014 T
ATP1B1     12840.p1chr1:
169096506-169096506		CTexonicDe novostopgainNM_001677c.C427Tp.R143X15.99-O’Roak2014 T
SETDB2     ER51232chr13:
50057690-50057690		GGAexonicDe novoframeshift insertionNM_001160308
NM_031915		c.1474dupA
c.1510dupA		p.G491fs
p.G503fs		--O’Roak2014 T
PTEN     211-5447-3chr10:
89692818-89692818		TCexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-O’Roak2014 T
PTEN     217-14246-3700chr10:
89692836-89692836		ATexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A320T
c.A839T		p.D107V
p.D280V		25.2-O’Roak2014 T
Source Variant Information

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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