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Results for "Willsey2013"

Variant Events: 147

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
FOXP1     12817.p1chr3:
71050170-71050170		CCTexonicDe novoframeshift insertionNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.714dupA
c.786dupA
c.1020dupA
c.1014dupA
c.1014dupA
c.1014dupA
c.1014dupA
c.1014dupA		p.A239fs
p.A263fs
p.A341fs
p.A339fs
p.A339fs
p.A339fs
p.A339fs
p.A339fs		--Willsey2013 E
TBC1D23     13010.p1chr3:
100015120-100015120		GCsplicingDe novosplicing19.61-Willsey2013 E
ADAM33     12561.p1chr20:
3655475-3655475		GAexonicDe novostopgainNM_001282447
NM_025220
NM_153202		c.C355T
c.C355T
c.C355T		p.R119X
p.R119X
p.R119X		18.177.753E-5Willsey2013 E
BCL11A     13183.p1chr2:
60689254-60689254		GGGexonicDe novoframeshift insertionNM_018014
NM_022893		c.792dupC
c.792dupC		p.L265fs
p.L265fs		--Willsey2013 E
FARP1     12235.p1chr13:
99100552-99100554		AAGAexonicDe novoframeshift deletionNM_005766
NM_001286839		c.3120_3121del
c.3213_3214del		p.K1040fs
p.K1071fs		--Willsey2013 E
THSD7A     13042.p1chr7:
11487022-11487022		GAexonicDe novostopgainNM_015204c.C2635Tp.Q879X42.0-Willsey2013 E
EFCAB5     13590.p1chr17:
28400678-28400679		GTGexonicDe novoframeshift deletionNM_001145053c.2542delTp.F848fs--Willsey2013 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-Willsey2013 E
FLG     13471.p1chr1:
152286919-152286921		CCTCexonicDe novoframeshift deletionNM_002016c.441_442delp.T147fs-8.242E-6Willsey2013 E
SHANK2     12380.p1chr11:
70332092-70332094		CTGCexonicDe novoframeshift deletionNM_133266c.2540_2541delp.S847fs--Willsey2013 E
PRPF39     10C102529chr14:
45571806-45571806		GAexonicDe novostopgainNM_017922c.G644Ap.W215X25.2-Willsey2013 E
MED13L     12969.p1chr12:
116418554-116418554		CCCsplicingDe novosplicing--Willsey2013 E
KMT2E     12952.p1chr7:
104748100-104748101		TCTexonicDe novoframeshift deletionNM_018682
NM_182931		c.3197delC
c.3197delC		p.S1066fs
p.S1066fs		--Willsey2013 E
WDFY3     13094.p1chr4:
85719152-85719152		TAexonicDe novostopgainNM_014991c.A2932Tp.R978X45.0-Willsey2013 E
TUBGCP4     13537.p1chr15:
43694048-43694052		TGTAATsplicingDe novosplicing--Willsey2013 E
UBN2     12950.p1chr7:
138968839-138968843		CCTCTCexonicDe novoframeshift deletionNM_173569c.3189_3192delp.P1063fs--Willsey2013 E
S100G     13135.p1chrX:
16672582-16672582		GTexonicDe novostopgainNM_004057c.G190Tp.E64X24.2-Willsey2013 E
CHD8     13844.p1chr14:
21871178-21871178		GAexonicDe novostopgainNM_001170629
NM_020920		c.C3712T
c.C2875T		p.Q1238X
p.Q959X		35.0-Willsey2013 E
CHD8     11654.p1chr14:
21871373-21871373		TCsplicingDe novosplicing19.43-Willsey2013 E
SLC7A7     12300.p1chr14:
23243580-23243580		GAexonicDe novostopgainNM_001126105
NM_001126106		c.C1228T
c.C1228T		p.R410X
p.R410X		38.01.648E-5Willsey2013 E
NCKAP1     12764.p1chr2:
183791570-183791570		CAexonicDe novostopgainNM_013436
NM_205842		c.G3244T
c.G3262T		p.E1082X
p.E1088X		48.0-Willsey2013 E
SETBP1     12933.p1chr18:
42532021-42532021		CCGGexonicDe novoframeshift insertionNM_015559c.2716_2717insGGp.P906fs--Willsey2013 E
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-Willsey2013 E
KATNAL2     11008.p1chr18:
44589733-44589733		GAsplicingDe novosplicing21.7-Willsey2013 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-Willsey2013 E
KATNAL2     11872.p1chr18:
44603833-44603833		GCsplicingDe novosplicing16.29-Willsey2013 E
DHRS4L1   12015.p1chr14:
24513037-24513037		GAintronicDe novo1.038-Willsey2013 E
RAD21L1     13125.p1chr20:
1210539-1210539		CTexonicDe novostopgainNM_001136566c.C160Tp.R54X35.0-Willsey2013 E
KMT5B     12864.p1chr11:
67938481-67938481		CTsplicingDe novosplicing16.07-Willsey2013 E
SPAST     09C98906chr2:
32361662-32361663		CTCexonicDe novoframeshift deletionNM_199436
NM_014946		c.1181delT
c.1277delT		p.L394fs
p.L426fs		--Willsey2013 E
SCN2A     11892.p1chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Willsey2013 E
POLRMT     13333.p1chr19:
630058-630058		GAexonicDe novostopgainNM_005035c.C304Tp.Q102X17.42-Willsey2013 E
TRIM17     13586.p1chr1:
228596935-228596935		GGGexonicDe novoframeshift insertionNM_001024940
NM_001134855
NM_016102		c.820dupC
c.820dupC
c.820dupC		p.P274fs
p.P274fs
p.P274fs		--Willsey2013 E
SCN2A     11114.p1chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Willsey2013 E
UBR3     12161.p1chr2:
170732427-170732430		CAAACexonicDe novononframeshift deletionNM_172070c.813_815delp.271_272del--Willsey2013 E
LTN1     11843.p1chr21:
30318550-30318550		CAexonicDe novostopgainNM_015565c.G3685Tp.G1229X40.0-Willsey2013 E
PCDHA13     12773.p1chr5:
140263886-140263890		CTTCGCexonicDe novoframeshift deletionNM_018904
NM_031865		c.2034_2037del
c.2034_2037del		p.A678fs
p.A678fs		--Willsey2013 E
PCOLCE     13018.p1chr7:
100201679-100201680		CTCexonicDe novoframeshift deletionNM_002593c.303delTp.S101fs--Willsey2013 E
FAM8A1     12685.p1chr6:
17606162-17606162		CTexonicDe novostopgainNM_016255c.C1015Tp.R339X38.02.0E-4Willsey2013 E
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-Willsey2013 E
NR3C2     12937.p1chr4:
149073677-149073677		GTexonicDe novostopgainNM_001166104
NM_000901		c.C2102A
c.C2453A		p.S701X
p.S818X		43.0-Willsey2013 E
KMT2C     11148.p1chr7:
151842339-151842339		GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5Willsey2013 E
KMT5B     11519.p1chr11:
67938481-67938481		CTsplicingDe novosplicing16.07-Willsey2013 E
USP15     12521.p1chr12:
62775296-62775300		CTGAGCexonicDe novoframeshift deletionNM_006313
NM_001252078		c.855_858del
c.942_945del		p.T285fs
p.T314fs		--Willsey2013 E
ASAH2     11715.p1chr10:
52005130-52005130		TTGexonicDe novoframeshift insertionNM_001143974
NM_019893		c.211dupC
c.211dupC		p.Q71fs
p.Q71fs		--Willsey2013 E
DIP2A     13012.p1chr21:
47957426-47957426		GAexonicDe novostopgainNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891		c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A		p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X		40.0-Willsey2013 E
TCF3     09C97625chr19:
1619177-1619177		GGTexonicDe novoframeshift insertionNM_001136139
NM_003200		c.1382dupA
c.1382dupA		p.N461fs
p.N461fs		--Willsey2013 E
KDM6B     12683.p1chr17:
7749188-7749188		AGsplicingDe novosplicing13.0-Willsey2013 E
KDM6B     12683.p1chr17:
7749921-7749922		CGCexonicDe novoframeshift deletionNM_001080424c.575delGp.R192fs--Willsey2013 E
DYRK1A     13890.p1chr21:
38865466-38865466		GAsplicingDe novosplicing28.2-Willsey2013 E
CUBN     13844.p1chr10:
17127755-17127755		GAexonicDe novostopgainNM_001081c.C1951Tp.R651X41.0-Willsey2013 E
WDFY3     13094.p1chr4:
85715777-85715777		GAexonicDe novostopgainNM_014991c.C3382Tp.R1128X44.0-Willsey2013 E
PDCD1     11707.p1chr2:
242795103-242795104		TGTexonicDe novoframeshift deletionNM_005018c.105delCp.P35fs--Willsey2013 E
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-Willsey2013 E
BRWD1     14292.p1chr21:
40568453-40568454		GTGexonicDe novoframeshift deletionNM_018963
NM_033656		c.6541delA
c.6541delA		p.T2181fs
p.T2181fs		--Willsey2013 E
BTN1A1     11132.p1chr6:
26508728-26508728		GAsplicingDe novosplicing9.943-Willsey2013 E
CBX4     13234.p1chr17:
77809050-77809050		GAexonicDe novostopgainNM_003655c.C391Tp.Q131X36.0-Willsey2013 E
PCYT1A     13922.p1chr3:
195966607-195966611		CTAGACsplicingDe novosplicing-8.299E-6Willsey2013 E
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		--Willsey2013 E
NUAK1     13349.p1chr12:
106461269-106461269		GAexonicDe novostopgainNM_014840c.C1297Tp.Q433X48.0-Willsey2013 E
DLL1     12653.p1chr6:
170593076-170593076		AAAexonicDe novoframeshift insertionNM_005618c.1291dupTp.C431fs--Willsey2013 E
TBR1     11480.p1chr2:
162273322-162273323		ACAexonicDe novoframeshift deletionNM_006593c.402delCp.H134fs--Willsey2013 E
ARID1B     13447.p1chr6:
157527664-157527668		CTGTTCexonicDe novoframeshift deletionNM_017519
NM_020732		c.5351_5354del
c.5390_5393del		p.L1784fs
p.L1797fs		--Willsey2013 E
ASH1L     11282.p1chr1:
155317482-155317482		CCCTTGexonicDe novoframeshift insertionNM_018489c.7767_7768insCAAGp.D2590fs--Willsey2013 E
L1CAM     13739.p1chrX:
153135038-153135040		TCATexonicDe novoframeshift deletionNM_001143963
NM_000425
NM_024003
NM_001278116		c.1187_1188del
c.1202_1203del
c.1202_1203del
c.1202_1203del		p.V396fs
p.V401fs
p.V401fs
p.V401fs		--Willsey2013 E
POGZ     13398.p1chr1:
151377904-151377904		CCCGTCATCAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3321_3322insTGATGACG
c.3447_3448insTGATGACG
c.3420_3421insTGATGACG
c.3579_3580insTGATGACG
c.3606_3607insTGATGACG		p.E1108_I1109delinsX
p.E1150_I1151delinsX
p.E1141_I1142delinsX
p.E1194_I1195delinsX
p.E1203_I1204delinsX		--Willsey2013 E
GIMAP8     13096.p1chr7:
150164231-150164232		GAGexonicDe novoframeshift deletionNM_175571c.446delAp.E149fs--Willsey2013 E
MBD5     12346.p1chr2:
149225965-149225967		GTCGexonicDe novoframeshift deletionNM_018328c.454_455delp.S152fs--Willsey2013 E
PPP1R15B     5061_201_childchr1:
204380092-204380092		GAexonicDe novostopgainNM_032833c.C448Tp.Q150X37.0-Willsey2013 E
RELN     09C90312chr7:
103322603-103322603		GAexonicDe novostopgainNM_005045
NM_173054		c.C1249T
c.C1249T		p.Q417X
p.Q417X		39.0-Willsey2013 E
ZMYM2     09C95788chr13:
20641159-20641163		TGTAATsplicingDe novosplicing-8.711E-6Willsey2013 E
MFRP     13168.p1chr11:
119214624-119214625		CTCexonicDe novoframeshift deletionNM_031433c.1025delAp.Q342fs--Willsey2013 E
SPP2     5112_201_childchr2:
234969088-234969089		TCTexonicDe novoframeshift deletionNM_006944c.410delCp.S137fs--Willsey2013 E
CTTNBP2     13070.p1chr7:
117423007-117423009		TCATexonicDe novoframeshift deletionNM_033427c.2279_2280delp.V760fs--Willsey2013 E
SMARCC2     09C90312chr12:
56566368-56566368		CAsplicingDe novosplicing18.68-Willsey2013 E
ACACB     13585.p1chr12:
109577550-109577550		GGGexonicDe novoframeshift insertionNM_001093c.340dupGp.E114fs--Willsey2013 E
FCRL6     11524.p1chr1:
159778750-159778750		GAsplicingDe novosplicing11.07-Willsey2013 E
PHF2     12323.p1chr9:
96439929-96439930		ATAexonicDe novoframeshift deletionNM_005392c.3263delTp.I1088fs--Willsey2013 E
ZNF594     12894.p1chr17:
5086039-5086039		GAexonicDe novostopgainNM_032530c.C1513Tp.Q505X18.76-Willsey2013 E
MTHFS     13590.p1chr15:
80137554-80137554		AAAexonicDe novostoplossNM_001199758
NM_006441
NM_001199760		c.438dupT
c.609dupT
c.537dupT		p.X147delinsL
p.X204delinsL
p.X180delinsL		--Willsey2013 E
CDC42BPB     13606.p1chr14:
103434646-103434646		GAexonicDe novostopgainNM_006035c.C2290Tp.R764X23.0-Willsey2013 E
RIMS1     13162.p1chr6:
72889392-72889392		AAAexonicDe novoframeshift insertionNM_014989c.586dupAp.T196fs--Willsey2013 E
ZFYVE26     13176.p1chr14:
68272014-68272015		GCGexonicDe novoframeshift deletionNM_015346c.1190delGp.G397fs--Willsey2013 E
MTMR12     09C95788chr5:
32263299-32263299		CTexonicDe novostopgainNM_001040446
NM_001294343
NM_001294344		c.G633A
c.G633A
c.G633A		p.W211X
p.W211X
p.W211X		38.0-Willsey2013 E
ECM2     13364.p1chr9:
95277357-95277357		GAexonicDe novostopgainNM_001197295
NM_001197296
NM_001393		c.C544T
c.C544T
c.C610T		p.R182X
p.R182X
p.R204X		14.022.472E-5Willsey2013 E
FAM91A1     12221.p1chr8:
124787443-124787443		CTexonicDe novostopgainNM_144963c.C214Tp.R72X31.0-Willsey2013 E
DST     13612.p1chr6:
56393643-56393647		GGTTTGexonicDe novoframeshift deletionNM_015548
NM_183380
NM_001144770
NM_001144769		c.9803_9806del
c.10781_10784del
c.10901_10904del
c.11315_11318del		p.Q3268fs
p.Q3594fs
p.Q3634fs
p.Q3772fs		--Willsey2013 E
SCUBE2     13506.p1chr11:
9111272-9111272		CAexonicDe novostopgainNM_001170690
NM_020974		c.G238T
c.G238T		p.E80X
p.E80X		37.0-Willsey2013 E
CNOT3     12444.p1chr19:
54656675-54656677		CTGCexonicDe novoframeshift deletionNM_014516c.1977_1978delp.T659fs--Willsey2013 E
CSTF2T     13439.p1chr10:
53458250-53458250		AAAexonicDe novoframeshift insertionNM_015235c.1059dupTp.Y354fs--Willsey2013 E
SCP2     11712.p1chr1:
53416506-53416508		CTGCexonicDe novoframeshift deletionNM_001193599
NM_001193617
NM_002979		c.208_209del
c.37_38del
c.280_281del		p.C70fs
p.C13fs
p.C94fs		--Willsey2013 E
PHF7     12383.p1chr3:
52454424-52454425		GCGexonicDe novoframeshift deletionNM_001278221
NM_016483		c.387delC
c.387delC		p.C129fs
p.C129fs		--Willsey2013 E
GRIN2B     12681.p1chr12:
13722953-13722953		TCsplicingDe novosplicing17.06-Willsey2013 E
ZMYND11     13513.p1chr10:
293337-293337		GAsplicingDe novosplicing26.9-Willsey2013 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		--Willsey2013 E
GRIN2B     12547.p1chr12:
13764762-13764762		CTexonicDe novostopgainNM_000834c.G1677Ap.W559X41.0-Willsey2013 E
GRIN2B     11691.p1chr12:
14019043-14019043		TTGexonicDe novoframeshift insertionNM_000834c.99dupCp.S34fs-2.0E-4Willsey2013 E
LMTK3     13092.p1chr19:
49004781-49004781		AAAGGTCAGexonicDe novoframeshift insertionNM_001080434c.919_920insCTGACCTp.L307fs--Willsey2013 E
DIP2A     13012.p1chr21:
47958430-47958430		CCCTGGTCTexonicDe novoframeshift insertionNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891		c.1707_1708insCTGGTCT
c.1824_1825insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT		p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs		--Willsey2013 E
UNC80     12463.p1chr2:
210745771-210745771		CTexonicDe novostopgainNM_032504
NM_182587		c.C4069T
c.C4054T		p.R1357X
p.R1352X		44.0-Willsey2013 E
ATP10D     13616.p1chr4:
47571001-47571001		GGGexonicDe novoframeshift insertionNM_020453c.3001dupGp.G1001fs--Willsey2013 E
SETD2     12565.p1chr3:
47098932-47098933		ATAexonicDe novoframeshift deletionNM_014159c.6341delAp.N2114fs--Willsey2013 E
SLC25A39     12939.p1chr17:
42399123-42399125		TCATexonicDe novoframeshift deletionNM_001143780
NM_016016		c.335_336del
c.311_312del		p.V112fs
p.V104fs		--Willsey2013 E
RAB2A     11077.p1chr8:
61484622-61484622		CTexonicDe novostopgainNM_001242644
NM_002865		c.C64T
c.C136T		p.R22X
p.R46X		28.2-Willsey2013 E
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		--Willsey2013 E
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		--Willsey2013 E
BRF2     13618.p1chr8:
37702145-37702147		CAGCexonicDe novoframeshift deletionNM_018310c.1121_1122delp.P374fs-6.595E-5Willsey2013 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-Willsey2013 E
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		--Willsey2013 E
VCP     13646.p1chr9:
35060455-35060460		TAGAACTexonicDe novoframeshift deletionNM_007126c.1545_1549delp.L515fs--Willsey2013 E
SYNGAP1     13073.p1chr6:
33408650-33408652		CTTCexonicDe novoframeshift deletionNM_006772c.1822_1823delp.F608fs--Willsey2013 E
NFKBIL1     11808.p1chr6:
31525439-31525439		CCTGexonicDe novoframeshift insertionNM_001144961
NM_001144962
NM_001144963
NM_005007		c.369_370insTG
c.300_301insTG
c.300_301insTG
c.369_370insTG		p.R123fs
p.R100fs
p.R100fs
p.R123fs		--Willsey2013 E
SPATA13         12652.p1chr13:
24797447-24797448		GCGexonicDe novoframeshift deletionNM_001166271
NM_001286792		c.381delC
c.567delC		p.S127fs
p.S189fs		--Willsey2013 E
CHD8     12752.p1chr14:
21861376-21861378		ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6355_6356del
c.5518_5519del		p.S2119fs
p.S1840fs		--Willsey2013 E
DNAH5     11610.p1chr5:
13923403-13923404		CACexonicDe novoframeshift deletionNM_001369c.423delTp.P141fs--Willsey2013 E
NRXN1     12501.p1chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Willsey2013 E
GALNT18     13548.p1chr11:
11314689-11314690		TGTexonicDe novoframeshift deletionNM_198516c.1563delCp.P521fs--Willsey2013 E
MYH10     13000.p1chr17:
8424204-8424205		GAGexonicDe novoframeshift deletionNM_005964
NM_001256095
NM_001256012		c.2171delT
c.2198delT
c.2264delT		p.F724fs
p.F733fs
p.F755fs		--Willsey2013 E
DIP2C     12705.p1chr10:
428609-428609		CCCexonicDe novoframeshift insertionNM_014974c.1968dupGp.A657fs--Willsey2013 E
CACNA2D3     13526.p1chr3:
54921984-54921984		AGsplicingDe novosplicing17.81-Willsey2013 E
ITGA5     10C104461chr12:
54793722-54793722		CAexonicDe novostopgainNM_002205c.G2800Tp.E934X43.0-Willsey2013 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		--Willsey2013 E
KIAA0100     13346.p1chr17:
26961045-26961045		GAexonicDe novostopgainNM_014680c.C3130Tp.R1044X42.0-Willsey2013 E
ANK2     12645.p1chr4:
114232545-114232545		CTexonicDe novostopgainNM_001148
NM_020977
NM_001127493		c.C2683T
c.C2683T
c.C2620T		p.R895X
p.R895X
p.R874X		42.0-Willsey2013 E
ANK2     14256.p1chr4:
114251469-114251469		CTexonicDe novostopgainNM_001148
NM_020977
NM_001127493		c.C2968T
c.C2968T
c.C2941T		p.R990X
p.R990X
p.R981X		41.0-Willsey2013 E
NAPRT     11356.p1chr8:
144659231-144659231		CTsplicingDe novosplicing15.08-Willsey2013 E
RPS6KA3     13222.p1chrX:
20193403-20193403		GCexonicDe novostopgainNM_004586c.C1106Gp.S369X37.0-Willsey2013 E
FREM3     11074.p1chr4:
144620325-144620325		GAexonicDe novostopgainNM_001168235c.C1504Tp.R502X25.3-Willsey2013 E
TRPM5     11510.p1chr11:
2428988-2428988		CTsplicingDe novosplicing16.863.345E-5Willsey2013 E
DDX3X     11999.p1chrX:
41204655-41204655		AGsplicingDe novosplicing16.92-Willsey2013 E
KIAA0232     12653.p1chr4:
6843914-6843914		CTexonicDe novostopgainNM_001100590
NM_014743		c.C352T
c.C352T		p.R118X
p.R118X		42.0-Willsey2013 E
EPHB2     13128.p1chr1:
23236941-23236941		CTexonicDe novostopgainNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2395T
c.C2569T
c.C2572T
c.C2569T		p.Q799X
p.Q857X
p.Q858X
p.Q857X		39.0-Willsey2013 E
NR3C2     13197.p1chr4:
149073677-149073677		GTexonicDe novostopgainNM_001166104
NM_000901		c.C2102A
c.C2453A		p.S701X
p.S818X		43.0-Willsey2013 E
ANO5     12792.p1chr11:
22276997-22276997		CTexonicDe novostopgainNM_001142649
NM_213599		c.C1258T
c.C1261T		p.Q420X
p.Q421X		41.0-Willsey2013 E
PLXNB1     09C97129chr3:
48455355-48455356		CACexonicDe novoframeshift deletionNM_001130082
NM_002673		c.4334delT
c.4334delT		p.L1445fs
p.L1445fs		--Willsey2013 E
TM4SF19       12840.p1chr3:
196053904-196053904		CTsplicingDe novosplicing11.38-Willsey2013 E
OSER1     09C96618chr20:
42825855-42825857		TGATexonicDe novoframeshift deletionNM_016470c.714_715delp.S238fs--Willsey2013 E
MAP3K14     11074.p1chr17:
43342072-43342073		TGTexonicDe novounknown--Willsey2013 E
SCN2A     5006_202chr2:
166164448-166164448		GAsplicingDe novosplicing25.6-Willsey2013 E
RNF38     12056.p1chr9:
36375929-36375929		AGsplicingDe novosplicing20.7-Willsey2013 E
APH1A     09C91621chr1:
150238957-150238957		GAexonicDe novostopgainNM_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-Willsey2013 E
POGZ     10C102646chr1:
151379469-151379469		GGGTACexonicDe novoframeshift 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		--Willsey2013 E
PPM1D     12340.p1chr17:
58740376-58740376		GAexonicDe novostopgainNM_003620c.G1281Ap.W427X38.0-Willsey2013 E
IQGAP2     12752.p1chr5:
75902128-75902128		CTexonicDe novostopgainNM_001285460
NM_006633		c.C1207T
c.C1357T		p.R403X
p.R453X		37.01.695E-5Willsey2013 E
ETFB     12752.p1chr19:
51848515-51848515		CAexonicDe novostopgainNM_001014763
NM_001985		c.G991T
c.G718T		p.E331X
p.E240X		35.0-Willsey2013 E
MPHOSPH8     12224.p1chr13:
20235898-20235898		CTexonicDe novostopgainNM_017520c.C1852Tp.R618X21.2-Willsey2013 E
ATP1B1     12840.p1chr1:
169096506-169096506		CTexonicDe novostopgainNM_001677c.C427Tp.R143X15.99-Willsey2013 E
Source Variant Information

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Paper Information
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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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