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Results for "Chen2017"

Variant Events: 128

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
EEF1D     Chen2017:50chr8:
144671359-144671359		GAexonicDe novononsynonymous SNVNM_001130053
NM_032378		c.C893T
c.C893T		p.A298V
p.A298V		0.719-Chen2017 E
EEF1D     Chen2017:51chr8:
144671357-144671357		GAexonicDe novononsynonymous SNVNM_001130053
NM_032378		c.C895T
c.C895T		p.P299S
p.P299S		7.923-Chen2017 E
DLX6     Chen2017:48chr7:
96635679-96635679		CTexonicDe novosynonymous SNVNM_005222c.C390Tp.S130S--Chen2017 E
PRKD2     Chen2017:49chr19:
47181869-47181869		GAexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881		c.C1651T
c.C2122T
c.C2122T
c.C2122T		p.R551C
p.R708C
p.R708C
p.R708C		24.8-Chen2017 E
ZNF410     Chen2017:54chr14:
74353493-74353493		GCUTR5De novo--Chen2017 E
RBP1     Chen2017:55chr3:
139257724-139257724		TCexonicDe novononsynonymous SNVNM_001130992
NM_001130993
NM_002899		c.A337G
c.A337G
c.A337G		p.I113V
p.I113V
p.I113V		4.608-Chen2017 E
CHD8     Chen2017:52chr14:
21873391-21873391		CTexonicDe novononsynonymous SNVNM_001170629
NM_020920		c.G3284A
c.G2447A		p.C1095Y
p.C816Y		22.7-Chen2017 E
CFAP100     Chen2017:53chr3:
126114864-126114864		TCexonicDe novosynonymous SNVNM_182628c.T21Cp.T7T--Chen2017 E
PPP4R3B     Chen2017:58chr2:
55825640-55825640		GCexonicDe novononsynonymous SNVNM_001122964
NM_001282850
NM_020463		c.C833G
c.C833G
c.C833G		p.P278R
p.P278R
p.P278R		19.65-Chen2017 E
DYNC1H1     Chen2017:59chr14:
102508760-102508760		GAexonicDe novostopgainNM_001376c.G12315Ap.W4105X55.0-Chen2017 E
WNT2B     Chen2017:56chr1:
113010107-113010107		CAUTR5De novo--Chen2017 E
XRN1     Chen2017:57chr3:
142083987-142083987		CTexonicDe novononsynonymous SNVNM_001282857
NM_019001		c.G3296A
c.G3296A		p.R1099Q
p.R1099Q		17.87-Chen2017 E
RAC3     Chen2017:62chr17:
79990682-79990682		GAexonicDe novononsynonymous SNVNM_001316307
NM_005052		c.G203A
c.G203A		p.R68Q
p.R68Q		25.4-Chen2017 E
SMCHD1     Chen2017:63chr18:
2667020-2667020		AGexonicDe novosynonymous SNVNM_015295c.A414Gp.Q138Q--Chen2017 E
ATG2A     Chen2017:60chr11:
64667998-64667998		GAexonicDe novononsynonymous SNVNM_015104c.C4432Tp.H1478Y21.4-Chen2017 E
KIDINS220     Chen2017:61chr2:
8871599-8871599		CTexonicDe novononsynonymous SNVNM_020738c.G4567Ap.E1523K21.1-Chen2017 E
ZBTB2     Chen2017:66chr6:
151687957-151687957		TCexonicDe novononsynonymous SNVNM_020861c.A244Gp.T82A22.6-Chen2017 E
PKP3     Chen2017:67chr11:
396860-396860		CTexonicDe novononsynonymous SNVNM_007183
NM_001303029		c.C359T
c.C404T		p.S120F
p.S135F		16.231.198E-5Chen2017 E
LSG1     Chen2017:64chr3:
194386345-194386345		CTexonicDe novosynonymous SNVNM_018385c.G462Ap.L154L--Chen2017 E
TIFA     Chen2017:65chr4:
113199374-113199374		GAexonicDe novostopgainNM_052864c.C199Tp.R67X38.08.309E-6Chen2017 E
DENND4A     Chen2017:70chr15:
66048521-66048521		AGexonicDe novononsynonymous SNVNM_001144823
NM_005848		c.T268C
c.T268C		p.C90R
p.C90R		21.8-Chen2017 E
ANKRD27     Chen2017:71chr19:
33135343-33135343		AGexonicDe novononsynonymous SNVNM_032139c.T413Cp.I138T24.44.0E-4Chen2017 E
UBR4     Chen2017:68chr1:
19403354-19403354		GCexonicDe novononsynonymous SNVNM_020765c.C15367Gp.L5123V25.1-Chen2017 E
CACNA1E     Chen2017:69chr1:
181686288-181686288		CTexonicDe novononsynonymous SNVNM_000721
NM_001205293
NM_001205294		c.C1375T
c.C1375T
c.C1375T		p.R459W
p.R459W
p.R459W		25.7-Chen2017 E
RC3H1     Chen2017:74chr1:
173947674-173947674		GAexonicDe novostopgainNM_001300850
NM_001300851
NM_001300852
NM_172071		c.C1054T
c.C1054T
c.C1054T
c.C1054T		p.R352X
p.R352X
p.R352X
p.R352X		37.08.237E-6Chen2017 E
FGFR4     Chen2017:75chr5:
176520523-176520523		CTexonicDe novosynonymous SNVNM_022963
NM_002011
NM_213647		c.C1248T
c.C1368T
c.C1368T		p.L416L
p.L456L
p.L456L		7.9131.657E-5Chen2017 E
MAP6     Chen2017:72chr11:
75319204-75319204		GAexonicDe novononsynonymous SNVNM_033063
NM_207577		c.C1069T
c.C1069T		p.R357C
p.R357C		21.01.647E-5Chen2017 E
NUP214     Chen2017:73chr9:
134000981-134000981		CGUTR5De novo--Chen2017 E
PSCA     Chen2017:78chr8:
143762748-143762748		CGexonicDe novononsynonymous SNVNM_005672c.C29Gp.T10S6.402-Chen2017 E
MRPS2     Chen2017:79chr9:
138392846-138392846		GTexonicDe novononsynonymous SNVNM_016034c.G46Tp.A16S14.57-Chen2017 E
HLA-DPB1     Chen2017:76chr6:
33053592-33053592		CTexonicDe novononsynonymous SNVNM_002121c.C683Tp.T228M9.7852.472E-5Chen2017 E
ACOX3     Chen2017:77chr4:
8401309-8401309		CTexonicDe novononsynonymous SNVNM_001101667
NM_003501		c.G847A
c.G847A		p.E283K
p.E283K		10.983.3E-5Chen2017 E
KRT37     Chen2017:82chr17:
39577674-39577674		GAexonicDe novononsynonymous SNVNM_003770c.C1186Tp.R396W13.12.0E-4Chen2017 E
MUC2   Chen2017:83chr11:
1075819-1075819		CTexonicDe novononsynonymous SNVNM_002457c.C245Tp.P82L0.195-Chen2017 E
ANKRD50     Chen2017:80chr4:
125591221-125591221		GTexonicDe novononsynonymous SNVNM_001167882
NM_020337		c.C2674A
c.C3211A		p.P892T
p.P1071T		22.0-Chen2017 E
ASB17     Chen2017:81chr1:
76387833-76387833		CTexonicDe novononsynonymous SNVNM_080868c.G613Ap.E205K15.99-Chen2017 E
PWP1     Chen2017:86chr12:
108090356-108090356		CTexonicDe novononsynonymous SNVNM_007062c.C608Tp.S203F14.65-Chen2017 E
USP15     Chen2017:87chr12:
62778084-62778084		GAsplicingDe novosplicing14.23-Chen2017 E
APOB     Chen2017:84chr2:
21229188-21229188		TGexonicDe novononsynonymous SNVNM_000384c.A10552Cp.N3518H13.02-Chen2017 E
FOXP1     Chen2017:85chr3:
71027145-71027145		GGGACTTexonicDe novoframeshift insertionNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.881_882insAAGTC
c.953_954insAAGTC
c.1187_1188insAAGTC
c.1181_1182insAAGTC
c.1181_1182insAAGTC
c.1181_1182insAAGTC
c.1181_1182insAAGTC
c.1181_1182insAAGTC		p.S294fs
p.S318fs
p.S396fs
p.S394fs
p.S394fs
p.S394fs
p.S394fs
p.S394fs		--Chen2017 E
WWC1     Chen2017:90chr5:
167887718-167887718		CAexonicDe novononsynonymous SNVNM_001161661
NM_001161662
NM_015238		c.C2887A
c.C2887A
c.C2887A		p.L963M
p.L963M
p.L963M		10.4-Chen2017 E
ARHGEF33     Chen2017:91chr2:
39184185-39184185		AGexonicDe novononsynonymous SNVNM_001145451c.A1367Gp.K456R13.43-Chen2017 E
PTPRN2     Chen2017:88chr7:
157959743-157959743		CTexonicDe novononsynonymous SNVNM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843		c.G676A
c.G739A
c.G859A
c.G790A
c.G790A		p.E226K
p.E247K
p.E287K
p.E264K
p.E264K		11.93-Chen2017 E
C2     Chen2017:89chr6:
31896646-31896646		CTexonicDe novononsynonymous SNVNM_000063
NM_001282458
NM_001282459		c.C394T
c.C307T
c.C394T		p.R132C
p.R103C
p.R132C		12.981.652E-5Chen2017 E
PLEKHA6     Chen2017:94chr1:
204237413-204237413		CTexonicDe novononsynonymous SNVNM_014935c.G130Ap.A44T7.761.653E-5Chen2017 E
AFMID     Chen2017:95chr17:
76183461-76183461		GTexonicDe novononsynonymous SNVNM_001010982
NM_001145526		c.G10T
c.G10T		p.V4L
p.V4L		8.012-Chen2017 E
NR2F1     Chen2017:92chr5:
92920811-92920811		CTexonicDe novostopgainNM_005654c.C82Tp.Q28X50.0-Chen2017 E
ASH2L     Chen2017:93chr8:
37993231-37993231		GCexonicDe novononsynonymous SNVNM_001282272
NM_001105214
NM_004674		c.G1249C
c.G1384C
c.G1666C		p.D417H
p.D462H
p.D556H		22.8-Chen2017 E
TYK2     Chen2017:98chr19:
10464269-10464269		CTexonicDe novononsynonymous SNVNM_003331c.G2962Ap.D988N36.0-Chen2017 E
IRF2     Chen2017:99chr4:
185320175-185320175		CTexonicDe novosynonymous SNVNM_002199c.G588Ap.P196P7.5982.0E-4Chen2017 E
VCAN     Chen2017:96chr5:
82833531-82833531		TGexonicDe novononsynonymous SNVNM_001164097
NM_004385		c.T1748G
c.T4709G		p.F583C
p.F1570C		8.985-Chen2017 E
OBSCN     Chen2017:97chr1:
228447223-228447223		AGexonicDe novononsynonymous SNVNM_001271223c.A4883Gp.K1628R14.64-Chen2017 E
MYO1E     Chen2017:102chr15:
59487682-59487682		GAexonicDe novononsynonymous SNVNM_004998c.C1783Tp.P595S16.31-Chen2017 E
WDR59     Chen2017:103chr16:
74927685-74927685		CTexonicDe novononsynonymous SNVNM_030581c.G1892Ap.R631H32.07.414E-5Chen2017 E
NHLRC4     Chen2017:100chr16:
617668-617668		GAUTR5De novo--Chen2017 E
RNF43     Chen2017:101chr17:
56435546-56435546		GAexonicDe novononsynonymous SNVNM_001305545
NM_001305544
NM_017763		c.C1210T
c.C1591T
c.C1591T		p.R404C
p.R531C
p.R531C		15.92-Chen2017 E
FXYD5     Chen2017:106chr19:
35655068-35655069		CTCexonicDe novoframeshift deletionNM_001164605
NM_014164
NM_144779		c.303delT
c.303delT
c.303delT		p.T101fs
p.T101fs
p.T101fs		--Chen2017 E
KDM4A     Chen2017:107chr1:
44132164-44132164		CTexonicDe novononsynonymous SNVNM_014663c.C715Tp.R239C26.3-Chen2017 E
CEMIP     Chen2017:104chr15:
81224214-81224214		GCexonicDe novononsynonymous SNVNM_018689
NM_001293298
NM_001293304		c.G2627C
c.G2627C
c.G2627C		p.R876T
p.R876T
p.R876T		16.11-Chen2017 E
LIPH     Chen2017:105chr3:
185229388-185229388		TCexonicDe novononsynonymous SNVNM_139248c.A1192Gp.T398A13.788.237E-6Chen2017 E
CDCP2     Chen2017:110chr1:
54610291-54610291		TCexonicDe novononsynonymous SNVNM_201546c.A275Gp.N92S21.9-Chen2017 E
CA10     Chen2017:111chr17:
50235121-50235121		AGexonicDe novononsynonymous SNVNM_020178
NM_001082533
NM_001082534		c.T26C
c.T26C
c.T26C		p.F9S
p.F9S
p.F9S		14.91-Chen2017 E
GNE     Chen2017:108chr9:
36246115-36246115		GAexonicDe novononsynonymous SNVNM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476		c.C352T
c.C514T
c.C622T
c.C529T
c.C529T		p.R118C
p.R172C
p.R208C
p.R177C
p.R177C		20.82.471E-5Chen2017 E
RNU5D-1     Chen2017:109chr5:
80714132-80714132		AGncRNA_intronicDe novo--Chen2017 E
VWA8     Chen2017:114chr13:
42265576-42265576		CAexonicDe novononsynonymous SNVNM_015058c.G3746Tp.S1249I10.54-Chen2017 E
MYOCD     Chen2017:115chr17:
12656157-12656157		GTexonicDe novononsynonymous SNVNM_001146312
NM_153604		c.G1552T
c.G1552T		p.D518Y
p.D518Y		25.1-Chen2017 E
LRFN1     Chen2017:112chr19:
39805743-39805743		GAexonicDe novosynonymous SNVNM_020862c.C234Tp.A78A--Chen2017 E
CYFIP2     Chen2017:113chr5:
156819928-156819928		GAexonicDe novononsynonymous SNVNM_001291721
NM_001037333
NM_014376
NM_001291722		c.G3604A
c.G3682A
c.G3682A
c.G3757A		p.V1202M
p.V1228M
p.V1228M
p.V1253M		19.15-Chen2017 E
KPTN     Chen2017:118chr19:
47986791-47986791		GTexonicDe novosynonymous SNVNM_007059c.C277Ap.R93R--Chen2017 E
SORD     Chen2017:119chr15:
45353297-45353297		CTexonicDe novostopgainNM_003104c.C298Tp.R100X19.098.239E-6Chen2017 E
RBBP6     Chen2017:116chr16:
24580513-24580513		TCexonicDe novosynonymous SNVNM_018703
NM_006910		c.T2400C
c.T2502C		p.Y800Y
p.Y834Y		-2.499E-5Chen2017 E
TBXAS1     Chen2017:117chr7:
139652364-139652364		CTexonicDe novosynonymous SNVNM_001166253c.C468Tp.I156I--Chen2017 E
KDM5B     Chen2017:122chr1:
202719900-202719900		GAexonicDe novostopgainNM_006618
NM_001314042		c.C1708T
c.C1816T		p.R570X
p.R606X		43.08.266E-6Chen2017 E
AMIGO1     Chen2017:123chr1:
110050709-110050709		GAexonicDe novononsynonymous SNVNM_020703c.C826Tp.R276C8.787-Chen2017 E
BCL9L     Chen2017:120chr11:
118779312-118779312		GAexonicDe novononsynonymous SNVNM_182557c.C79Tp.R27C19.95.881E-5Chen2017 E
MAP3K6     Chen2017:121chr1:
27685327-27685327		AGexonicDe novononsynonymous SNVNM_001297609
NM_004672		c.T2432C
c.T2456C		p.I811T
p.I819T		25.12.634E-5Chen2017 E
PLEC     Chen2017:126chr8:
144998708-144998708		GAexonicDe novononsynonymous SNVNM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445		c.C5347T
c.C5323T
c.C5800T
c.C5293T
c.C5389T
c.C5401T
c.C5389T
c.C5470T		p.R1783C
p.R1775C
p.R1934C
p.R1765C
p.R1797C
p.R1801C
p.R1797C
p.R1824C		12.711.0E-4Chen2017 E
ITGA10     Chen2017:127chr1:
145534964-145534964		GAexonicDe novononsynonymous SNVNM_001303041
NM_001303040
NM_003637		c.G1438A
c.G1474A
c.G1867A		p.G480R
p.G492R
p.G623R		27.5-Chen2017 E
ERCC6L     Chen2017:124chrX:
71428206-71428206		GAexonicDe novosynonymous SNVNM_017669c.C411Tp.S137S-9.118E-5Chen2017 E
EPB41L1     Chen2017:125chr20:
34765932-34765932		AGexonicDe novononsynonymous SNVNM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330		c.A215G
c.A401G
c.A215G
c.A401G
c.A308G		p.E72G
p.E134G
p.E72G
p.E134G
p.E103G		27.2-Chen2017 E
ACAP2     Chen2017:128chr3:
195063205-195063205		GAexonicDe novononsynonymous SNVNM_012287c.C523Tp.L175F13.9-Chen2017 E
ING3     Chen2017:2chr7:
120614925-120614925		AGUTR3De novo-2.528E-5Chen2017 E
KDM2A     Chen2017:3chr11:
67007740-67007740		CCTexonicDe novoframeshift insertionNM_001256405c.63dupTp.S21fs--Chen2017 E
GDAP2     Chen2017:1chr1:
118426130-118426130		GAexonicDe novosynonymous SNVNM_001135589
NM_017686		c.C1227T
c.C1227T		p.L409L
p.L409L		--Chen2017 E
PTPRZ1     Chen2017:6chr7:
121684623-121684623		GTsplicingDe novosplicing22.7-Chen2017 E
SETD1A     Chen2017:7chr16:
30975596-30975596		CTexonicDe novononsynonymous SNVNM_014712c.C821Tp.T274M16.586.604E-5Chen2017 E
SLC16A1     Chen2017:4chr1:
113460234-113460234		AGexonicDe novononsynonymous SNVNM_001166496
NM_003051		c.T794C
c.T794C		p.L265P
p.L265P		18.63-Chen2017 E
EMILIN3     Chen2017:5chr20:
39991214-39991214		AGexonicDe novononsynonymous SNVNM_052846c.T995Cp.L332P14.15-Chen2017 E
ANKRD40     Chen2017:10chr17:
48776796-48776796		AGexonicDe novononsynonymous SNVNM_052855c.T742Cp.F248L16.28-Chen2017 E
NKX2-8     Chen2017:11chr14:
37050458-37050458		GAexonicDe novosynonymous SNVNM_014360c.C369Tp.L123L--Chen2017 E
LCE1A     Chen2017:8chr1:
152800137-152800137		GAexonicDe novosynonymous SNVNM_178348c.G189Ap.G63G--Chen2017 E
BTN2A1     Chen2017:9chr6:
26463682-26463682		TCexonicDe novononsynonymous SNVNM_001197233
NM_001197234
NM_007049
NM_078476		c.T458C
c.T641C
c.T641C
c.T641C		p.V153A
p.V214A
p.V214A
p.V214A		9.612-Chen2017 E
TLCD2     Chen2017:14chr17:
1611428-1611428		CAexonicDe novononsynonymous SNVNM_001164407c.G431Tp.C144F2.866-Chen2017 E
ANK3     Chen2017:15chr10:
62023648-62023648		GAexonicDe novononsynonymous SNVNM_001204404
NM_020987
NM_001204403		c.C593T
c.C644T
c.C626T		p.T198M
p.T215M
p.T209M		26.48.241E-6Chen2017 E
LRP2     Chen2017:12chr2:
170030556-170030556		GCexonicDe novononsynonymous SNVNM_004525c.C10887Gp.H3629Q17.97-Chen2017 E
PCNX3     Chen2017:13chr11:
65403905-65403905		GAexonicDe novosynonymous SNVNM_032223c.G5637Ap.P1879P-9.395E-6Chen2017 E
TALDO1     Chen2017:18chr11:
758966-758966		AGexonicDe novononsynonymous SNVNM_006755c.A238Gp.I80V1.88-Chen2017 E
SOX7     Chen2017:19chr8:
10583812-10583812		CTexonicDe novosynonymous SNVNM_031439c.G603Ap.L201L--Chen2017 E
CD163     Chen2017:16chr12:
7647881-7647881		CGexonicDe novononsynonymous SNVNM_004244
NM_203416		c.G1216C
c.G1216C		p.E406Q
p.E406Q		17.01-Chen2017 E
EPHB3     Chen2017:17chr3:
184297701-184297701		CTexonicDe novosynonymous SNVNM_004443c.C2151Tp.C717C-3.331E-5Chen2017 E
C6orf136     Chen2017:22chr6:
30615559-30615559		CGexonicDe novononsynonymous SNVNM_001161376c.C551Gp.P184R1.562-Chen2017 E
KLHL26     Chen2017:23chr19:
18778486-18778486		CTexonicDe novosynonymous SNVNM_018316c.C279Tp.T93T-6.07E-5Chen2017 E
SEMA4B     Chen2017:20chr15:
90771256-90771256		CTexonicDe novononsynonymous SNVNM_198925
NM_020210		c.C1895T
c.C1895T		p.S632L
p.S632L		14.287.0E-4Chen2017 E
MYH7B     Chen2017:21chr20:
33567509-33567509		CGexonicDe novononsynonymous SNVNM_020884c.C370Gp.R124G16.818.295E-6Chen2017 E
OR8K3     Chen2017:26chr11:
56086068-56086068		TCexonicDe novononsynonymous SNVNM_001005202c.T286Cp.F96L0.015-Chen2017 E
LRRC27     Chen2017:27chr10:
134158126-134158126		CTexonicDe novosynonymous SNVNM_001309474
NM_001143757
NM_001143758
NM_001143759
NM_030626		c.C144T
c.C525T
c.C525T
c.C525T
c.C525T		p.H48H
p.H175H
p.H175H
p.H175H
p.H175H		15.72-Chen2017 E
TBL3     Chen2017:24chr16:
2025006-2025006		CGexonicDe novostopgainNM_006453c.C542Gp.S181X28.0-Chen2017 E
TAS1R2     Chen2017:25chr1:
19166809-19166809		GTexonicDe novononsynonymous SNVNM_152232c.C1804Ap.P602T15.17-Chen2017 E
RAPGEF3     Chen2017:30chr12:
48152505-48152505		ACUTR5De novo--Chen2017 E
ZNF578     Chen2017:31chr19:
53015256-53015256		GGTexonicDe novoframeshift insertionNM_001099694c.1623dupTp.C541fs--Chen2017 E
GAB2     Chen2017:28chr11:
77938015-77938015		CGexonicDe novononsynonymous SNVNM_012296
NM_080491		c.G589C
c.G703C		p.G197R
p.G235R		7.766-Chen2017 E
CEP295     Chen2017:29chr11:
93458987-93458987		TCexonicDe novosynonymous SNVNM_033395c.T6489Cp.N2163N--Chen2017 E
CCDC77     Chen2017:34chr12:
551033-551035		AAGAexonicDe novoframeshift deletionNM_001130148
NM_001130146
NM_001130147
NM_032358		c.1319_1320del
c.1319_1320del
c.1319_1320del
c.1415_1416del		p.K440fs
p.K440fs
p.K440fs
p.K472fs		--Chen2017 E
CDX2     Chen2017:35chr13:
28543127-28543127		ACexonicDe novononsynonymous SNVNM_001265c.T17Gp.L6R19.97-Chen2017 E
HPS5     Chen2017:32chr11:
18313160-18313160		TCexonicDe novononsynonymous SNVNM_007216
NM_181508
NM_181507		c.A1927G
c.A1927G
c.A2269G		p.T643A
p.T643A
p.T757A		0.018-Chen2017 E
PRR14     Chen2017:33chr16:
30666220-30666220		GAexonicDe novononsynonymous SNVNM_024031c.G929Ap.R310H13.741.678E-5Chen2017 E
APMAP     Chen2017:38chr20:
24964537-24964537		AGsplicingDe novosplicing20.61.656E-5Chen2017 E
KRTAP2-3     Chen2017:39chr17:
39216220-39216220		GAexonicDe novononsynonymous SNVNM_001165252c.C83Tp.P28L18.05-Chen2017 E
FAM160B1     Chen2017:36chr10:
116621094-116621094		GAsplicingDe novosplicing13.9-Chen2017 E
MATN1     Chen2017:37chr1:
31194365-31194365		GAexonicDe novononsynonymous SNVNM_002379c.C328Tp.R110C18.394.146E-5Chen2017 E
WDR1     Chen2017:42chr4:
10117822-10117822		CTexonicDe novononsynonymous SNVNM_005112
NM_017491		c.G53A
c.G53A		p.G18D
p.G18D		28.3-Chen2017 E
PDXDC1     Chen2017:43chr16:
15112743-15112743		GAexonicDe novononsynonymous SNVNM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027		c.G929A
c.G926A
c.G737A
c.G941A
c.G965A
c.G1010A
c.G1010A		p.R310H
p.R309H
p.R246H
p.R314H
p.R322H
p.R337H
p.R337H		27.61.0E-4Chen2017 E
ZZEF1     Chen2017:40chr17:
3978572-3978572		CTexonicDe novononsynonymous SNVNM_015113c.G3386Ap.C1129Y26.2-Chen2017 E
OLFM4     Chen2017:41chr13:
53624124-53624124		GAexonicDe novononsynonymous SNVNM_006418c.G751Ap.V251M14.07-Chen2017 E
PAPLN     Chen2017:46chr14:
73729315-73729315		GAexonicDe novononsynonymous SNVNM_173462c.G2422Ap.E808K9.0718.0E-4Chen2017 E
MAP3K13     Chen2017:47chr3:
185198194-185198194		GAexonicDe novosynonymous SNVNM_001242317
NM_004721
NM_001242314		c.G2055A
c.G2676A
c.G2676A		p.T685T
p.T892T
p.T892T		-8.237E-6Chen2017 E
SPG7     Chen2017:44chr16:
89613072-89613072		CTexonicDe novononsynonymous SNVNM_003119c.C1456Tp.R486W19.735.19E-5Chen2017 E
GRIK2     Chen2017:45chr6:
102483286-102483286		AGexonicDe novononsynonymous SNVNM_001166247
NM_021956
NM_175768		c.A2156G
c.A2156G
c.A2156G		p.K719R
p.K719R
p.K719R		18.571.652E-5Chen2017 E
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Technology
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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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