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Exact

Results for "Cukier2014"

Variant Events: 518

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
BTN2A2     Cukier2014:37425chr6:
26384060-26384060
CTexonicUnknownnonsynonymous SNVNM_001197237
NM_001197238
NM_001197239
NM_001197240
NM_006995
NM_181531
c.C11T
c.C11T
c.C11T
c.C11T
c.C11T
c.C11T
p.A4V
p.A4V
p.A4V
p.A4V
p.A4V
p.A4V
13.910.007Cukier2014 E
BTN2A2     Cukier2014:37425chr6:
26385263-26385263
CGexonicUnknownnonsynonymous SNVNM_001197237
NM_001197238
NM_001197240
NM_006995
c.C115G
c.C115G
c.C115G
c.C115G
p.P39A
p.P39A
p.P39A
p.P39A
11.720.007Cukier2014 E
BPHL     Cukier2014:7531chr6:
3140676-3140676
GAexonicUnknownnonsynonymous SNVNM_004332
NM_001302777
c.G721A
c.G670A
p.G241S
p.G224S
25.24.119E-5Cukier2014 E
BPHL     Cukier2014:7531chr6:
3152781-3152781
AGexonicUnknownnonsynonymous SNVNM_004332
NM_001302777
c.A848G
c.A797G
p.N283S
p.N266S
21.90.002Cukier2014 E
C12orf49     Cukier2014:7590chr12:
117175608-117175608
CTexonicUnknownnonsynonymous SNVNM_024738c.G98Ap.S33N18.630.0204Cukier2014 E
C12orf65     Cukier2014:7531chr12:
123738265-123738265
GAexonicUnknownnonsynonymous SNVNM_001143905
NM_001194995
NM_152269
c.G44A
c.G44A
c.G44A
p.R15Q
p.R15Q
p.R15Q
21.00.0194Cukier2014 E
LCOR     Cukier2014:37425chr10:
98741973-98741973
AGexonicUnknownnonsynonymous SNVNM_015652c.A826Gp.K276E6.7230.0013Cukier2014 E
C10orf128     Cukier2014:7936chr10:
50376004-50376004
AGexonicUnknownnonsynonymous SNVNM_001010863
NM_001288740
NM_001288741
NM_001288742
NM_001288743
c.T47C
c.T47C
c.T47C
c.T47C
c.T47C
p.V16A
p.V16A
p.V16A
p.V16A
p.V16A
13.670.037Cukier2014 E
C16orf89     Cukier2014:7870chr16:
5115751-5115751
CAexonicUnknownnonsynonymous SNVNM_001098514
NM_152459
c.G159T
c.G159T
p.R53S
p.R53S
15.480.0051Cukier2014 E
HEATR9     Cukier2014:37150chr17:
34186056-34186056
CGexonicUnknownnonsynonymous SNVNM_152781c.G775Cp.E259Q20.51.652E-5Cukier2014 E
C12orf73     Cukier2014:37994chr12:
104350408-104350408
CTsplicingUnknownsplicing19.330.002Cukier2014 E
NRDE2     Cukier2014:37024chr14:
90756862-90756862
CGexonicUnknownnonsynonymous SNVNM_017970c.G1932Cp.L644F16.350.0079Cukier2014 E
R3HDM4     Cukier2014:7531chr19:
900951-900951
AGexonicUnknownnonsynonymous SNVNM_138774c.T353Cp.V118A11.680.0491Cukier2014 E
C19orf57     Cukier2014:37674chr19:
13993709-13993709
CTexonicUnknownnonsynonymous SNVNM_024323c.G1820Ap.R607Q14.820.0046Cukier2014 E
HEATR9     Cukier2014:17678chr17:
34192351-34192351
GAexonicUnknownnonsynonymous SNVNM_152781c.C188Tp.P63L11.790.0082Cukier2014 E
FAAP100     Cukier2014:37994chr17:
79517729-79517729
GAexonicUnknownnonsynonymous SNVNM_025161c.C791Tp.A264V14.740.0033Cukier2014 E
C1QTNF6     Cukier2014:17342chr22:
37578388-37578388
CTexonicUnknownnonsynonymous SNVNM_031910
NM_182486
c.G677A
c.G677A
p.R226H
p.R226H
32.00.0276Cukier2014 E
TLDC2     Cukier2014:37994chr20:
35521264-35521264
GTsplicingUnknownsplicing7.80.0044Cukier2014 E
FYB2     Cukier2014:3836chr1:
57254697-57254697
GAexonicUnknownnonsynonymous SNVNM_001004303c.C868Tp.L290F15.920.0279Cukier2014 E
C1orf27     Cukier2014:7936chr1:
186368092-186368092
ACexonicUnknownnonsynonymous SNVNM_001164245
NM_001164246
NM_017847
c.A847C
c.A820C
c.A916C
p.K283Q
p.K274Q
p.K306Q
18.680.0161Cukier2014 E
C2CD3     Cukier2014:37037chr11:
73850002-73850002
GCexonicUnknownnonsynonymous SNVNM_001286577
NM_015531
c.C718G
c.C718G
p.H240D
p.H240D
10.890.0121Cukier2014 E
TEX37     Cukier2014:7936chr2:
88828961-88828961
GAexonicUnknownnonsynonymous SNVNM_152670c.G512Ap.R171Q18.77.0E-4Cukier2014 E
SPATA25     Cukier2014:7503chr20:
44515322-44515322
CTexonicUnknownnonsynonymous SNVNM_080608c.G518Ap.R173Q20.80.0032Cukier2014 E
APMAP     Cukier2014:7936chr20:
24952147-24952147
GAexonicUnknownnonsynonymous SNVNM_020531c.C487Tp.L163F21.20.0248Cukier2014 E
SDHAF4     Cukier2014:17678chr6:
71298323-71298323
CTexonicUnknownnonsynonymous SNVNM_145267c.C223Tp.P75S29.70.0139Cukier2014 E
TMEM243     Cukier2014:37037chr7:
86827302-86827302
GTexonicUnknownnonsynonymous SNVNM_024315c.C189Ap.F63L24.90.0034Cukier2014 E
RTP5     Cukier2014:18074chr2:
242814639-242814639
TCexonicUnknownnonsynonymous SNVNM_173821c.T932Cp.L311P5.8210.0874Cukier2014 E
RTP5     Cukier2014:18074chr2:
242815059-242815059
CTexonicUnknownnonsynonymous SNVNM_173821c.C1352Tp.A451V13.010.0884Cukier2014 E
C9     Cukier2014:37425chr5:
39289043-39289043
AGexonicUnknownnonsynonymous SNVNM_001737c.T1427Cp.I476T20.70.0011Cukier2014 E
C9orf50     Cukier2014:37674chr9:
132375739-132375739
AGexonicUnknownnonsynonymous SNVNM_199350c.T1018Cp.S340P14.010.005Cukier2014 E
C7orf26     Cukier2014:17245chr7:
6631481-6631481
GTexonicUnknownnonsynonymous SNVNM_001303039
NM_024067
c.G340T
c.G397T
p.A114S
p.A133S
27.7-Cukier2014 E
C7orf57     Cukier2014:7936chr7:
48086151-48086151
GAexonicUnknownnonsynonymous SNVNM_001267865
NM_001267866
NM_001100159
c.G79A
c.G79A
c.G445A
p.D27N
p.D27N
p.D149N
17.670.0093Cukier2014 E
CCDC141     Cukier2014:7658chr2:
179733939-179733939
CTexonicUnknownnonsynonymous SNVNM_173648c.G2299Ap.D767N27.40.0039Cukier2014 E
CCDC38     Cukier2014:37994chr12:
96272113-96272113
AGexonicUnknownnonsynonymous SNVNM_182496c.T1154Cp.I385T15.542.0E-4Cukier2014 E
RNF133     Cukier2014:17342chr7:
122338970-122338970
CTexonicUnknownnonsynonymous SNVNM_139175c.G3Ap.M1I15.430.0415Cukier2014 E
CATSPER4     Cukier2014:37232chr1:
26517811-26517811
AGexonicUnknownnonsynonymous SNVNM_198137c.A247Gp.M83V15.240.0066Cukier2014 E
CCDC81     Cukier2014:37150chr11:
86126337-86126337
TGexonicUnknownnonsynonymous SNVNM_021827
NM_001156474
c.T1403G
c.T1673G
p.L468R
p.L558R
19.460.0174Cukier2014 E
CCIN     Cukier2014:7590chr9:
36169894-36169894
AGexonicUnknownnonsynonymous SNVNM_005893c.A395Gp.N132S14.990.0198Cukier2014 E
CCDC74A     Cukier2014:17351chr2:
132287879-132287879
GAintronicUnknown11.827.097E-5Cukier2014 E
CCDC74A     Cukier2014:37037chr2:
132290912-132290912
GAexonicUnknownnonsynonymous SNVNM_001258304
NM_001258306
NM_138770
c.G1069A
c.G880A
c.G1078A
p.E357K
p.E294K
p.E360K
15.00.0124Cukier2014 E
CCRL2     Cukier2014:17351chr3:
46449863-46449863
GAexonicUnknownnonsynonymous SNVNM_001130910
NM_003965
c.G329A
c.G293A
p.G110E
p.G98E
0.870.0126Cukier2014 E
CD34     Cukier2014:7713chr1:
208073205-208073205
CAexonicUnknownnonsynonymous SNVNM_001025109
NM_001773
c.G223T
c.G223T
p.V75L
p.V75L
9.9830.0239Cukier2014 E
CCL14     Cukier2014:37232chr17:
34313612-34313612
GAexonicUnknownnonsynonymous SNVNM_032962
NM_032963
c.C74T
c.C74T
p.S25F
p.S25F
13.770.0268Cukier2014 E
CCR5     Cukier2014:17122chr3:
46414557-46414557
TAexonicUnknownnonsynonymous SNVNM_000579
NM_001100168
c.T164A
c.T164A
p.L55Q
p.L55Q
16.50.0127Cukier2014 E
CDH11     Cukier2014:17122chr16:
65016165-65016165
CGexonicUnknownnonsynonymous SNVNM_001308392
NM_001797
c.G1039C
c.G1039C
p.V347L
p.V347L
20.80.0192Cukier2014 E
CDH23     Cukier2014:17122chr10:
73537449-73537449
GAexonicUnknownnonsynonymous SNVNM_022124c.G4858Ap.V1620M18.680.0227Cukier2014 E
CDAN1     Cukier2014:7658chr15:
43022806-43022806
GAexonicUnknownnonsynonymous SNVNM_138477c.C2164Tp.R722C18.760.0012Cukier2014 E
CDH1     Cukier2014:7936chr16:
68855966-68855966
GAexonicUnknownnonsynonymous SNVNM_001317184
NM_001317185
NM_004360
c.G1591A
c.G226A
c.G1774A
p.A531T
p.A76T
p.A592T
15.260.0032Cukier2014 E
CDHR1     Cukier2014:7590chr10:
85972932-85972932
AGexonicUnknownnonsynonymous SNVNM_001171971
NM_033100
c.A1868G
c.A1868G
p.N623S
p.N623S
10.030.0041Cukier2014 E
CDKAL1     Cukier2014:7872chr6:
20546697-20546697
GAexonicUnknownnonsynonymous SNVNM_017774c.G116Ap.R39Q22.60.0054Cukier2014 E
CDH26     Cukier2014:17122chr20:
58559852-58559852
GTexonicUnknownnonsynonymous SNVNM_177980c.G700Tp.D234Y12.784.0E-4Cukier2014 E
CDH9     Cukier2014:17351chr5:
26885797-26885797
TCexonicUnknownnonsynonymous SNVNM_016279c.A1808Gp.E603G20.20.0069Cukier2014 E
CEP290     Cukier2014:37425chr12:
88472996-88472996
CTexonicUnknownnonsynonymous SNVNM_025114c.G5237Ap.R1746Q16.750.0119Cukier2014 E
CEP290     Cukier2014:37117chr12:
88508258-88508258
TCexonicUnknownnonsynonymous SNVNM_025114c.A1991Gp.D664G16.640.0161Cukier2014 E
CENPE     Cukier2014:17678chr4:
104080217-104080217
ACexonicUnknownnonsynonymous SNVNM_001286734
NM_001813
c.T2476G
c.T2551G
p.S826A
p.S851A
11.570.0048Cukier2014 E
CEP250     Cukier2014:37425chr20:
34064340-34064340
CTexonicUnknownnonsynonymous SNVNM_007186c.C1783Tp.R595W23.14.945E-5Cukier2014 E
CGREF1     Cukier2014:7713chr2:
27324669-27324669
CTexonicUnknownnonsynonymous SNVNM_001166239
NM_006569
c.G430A
c.G430A
p.G144R
p.G144R
27.70.0194Cukier2014 E
CGRRF1     Cukier2014:37425chr14:
54997751-54997751
CTexonicUnknownnonsynonymous SNVNM_006568c.C553Tp.R185W18.830.0074Cukier2014 E
CEP68     Cukier2014:18074chr2:
65299420-65299420
TCexonicUnknownnonsynonymous SNVNM_015147c.T1190Cp.L397P12.520.0147Cukier2014 E
CGN     Cukier2014:17678chr1:
151491836-151491836
CTexonicUnknownnonsynonymous SNVNM_020770c.C841Tp.R281W19.020.002Cukier2014 E
CIC     Cukier2014:37037chr19:
42798982-42798982
CTexonicUnknownnonsynonymous SNVNM_015125
NM_001304815
c.C4466T
c.C7193T
p.A1489V
p.A2398V
16.688.319E-6Cukier2014 E
CIT     Cukier2014:7637chr12:
120220431-120220431
CTexonicUnknownnonsynonymous SNVNM_001206999
NM_007174
c.G1556A
c.G1556A
p.R519Q
p.R519Q
33.08.244E-6Cukier2014 E
CHTF18     Cukier2014:18074chr16:
845754-845754
CTexonicUnknownnonsynonymous SNVNM_022092c.C2245Tp.R749C14.570.0122Cukier2014 E
CHTOP     Cukier2014:37150chr1:
153615820-153615820
GAexonicUnknownnonsynonymous SNVNM_001206612
NM_015607
c.G524A
c.G521A
p.R175H
p.R174H
15.960.0145Cukier2014 E
CLDN3     Cukier2014:7435chr7:
73183979-73183979
GAexonicUnknownnonsynonymous SNVNM_001306c.C401Tp.P134L32.00.0045Cukier2014 E
CLIP1     Cukier2014:7590chr12:
122825398-122825398
CTexonicUnknownnonsynonymous SNVNM_198240
NM_002956
NM_001247997
c.G2215A
c.G2320A
c.G2353A
p.E739K
p.E774K
p.E785K
26.00.0102Cukier2014 E
CIZ1     Cukier2014:7606chr9:
130941377-130941377
TCexonicUnknownnonsynonymous SNVNM_001131018
NM_001257976
NM_001131015
NM_001131016
NM_001131017
NM_001257975
NM_012127
c.A1037G
c.A806G
c.A1109G
c.A1109G
c.A1094G
c.A1199G
c.A1109G
p.E346G
p.E269G
p.E370G
p.E370G
p.E365G
p.E400G
p.E370G
23.20.0029Cukier2014 E
CLCN2     Cukier2014:37994chr3:
184076909-184076909
CTexonicUnknownnonsynonymous SNVNM_001171087
NM_001171088
NM_001171089
NM_004366
c.G74A
c.G74A
c.G74A
c.G74A
p.R25Q
p.R25Q
p.R25Q
p.R25Q
29.21.0E-4Cukier2014 E
COL22A1     Cukier2014:7623chr8:
139815174-139815174
CGexonicUnknownnonsynonymous SNVNM_152888c.G1498Cp.D500H15.837.0E-4Cukier2014 E
COL4A4     Cukier2014:7531chr2:
227915847-227915847
CTexonicUnknownnonsynonymous SNVNM_000092c.G2996Ap.G999E13.890.0117Cukier2014 E
CLYBL     Cukier2014:17122chr13:
100425097-100425097
GTexonicUnknownnonsynonymous SNVNM_206808c.G82Tp.D28Y12.730.0217Cukier2014 E
CNTN5     Cukier2014:17342chr11:
100168410-100168410
TAexonicUnknownnonsynonymous SNVNM_175566
NM_001243270
NM_001243271
NM_014361
c.T2146A
c.T2368A
c.T2368A
c.T2368A
p.L716I
p.L790I
p.L790I
p.L790I
13.980.0097Cukier2014 E
COL6A3     Cukier2014:17478chr2:
238271991-238271991
GAexonicUnknownnonsynonymous SNVNM_057166
NM_057167
NM_004369
c.C4147T
c.C5350T
c.C5968T
p.R1383W
p.R1784W
p.R1990W
6.6140.0012Cukier2014 E
COL6A6     Cukier2014:37994chr3:
130282383-130282383
CAexonicUnknownnonsynonymous SNVNM_001102608c.C536Ap.T179K23.30.0131Cukier2014 E
COL5A3     Cukier2014:7590chr19:
10085062-10085062
CTexonicUnknownnonsynonymous SNVNM_015719c.G3365Ap.R1122H18.480.0428Cukier2014 E
COL6A3     Cukier2014:18074chr2:
238253016-238253016
GAexonicUnknownnonsynonymous SNVNM_057166
NM_057167
NM_004369
c.C5824T
c.C7027T
c.C7645T
p.R1942W
p.R2343W
p.R2549W
10.190.0027Cukier2014 E
CRISP2     Cukier2014:7637chr6:
49663567-49663567
AGexonicUnknownnonsynonymous SNVNM_001142407
NM_001142435
NM_001261822
NM_001142408
NM_001142417
NM_003296
c.T586C
c.T586C
c.T586C
c.T586C
c.T586C
c.T586C
p.C196R
p.C196R
p.C196R
p.C196R
p.C196R
p.C196R
17.240.018Cukier2014 E
CSMD1     Cukier2014:37117chr8:
2965294-2965294
GCexonicUnknownnonsynonymous SNVNM_033225c.C6781Gp.P2261A15.420.0042Cukier2014 E
COMP     Cukier2014:7637chr19:
18897440-18897440
TCexonicUnknownnonsynonymous SNVNM_000095c.A1156Gp.N386D18.690.0338Cukier2014 E
CPZ     Cukier2014:37232chr4:
8613762-8613762
GTexonicUnknownnonsynonymous SNVNM_003652
NM_001014447
NM_001014448
c.G1203T
c.G1236T
c.G825T
p.K401N
p.K412N
p.K275N
15.830.006Cukier2014 E
CUL7     Cukier2014:37425chr6:
43014022-43014022
GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C2864T
c.C2612T
p.A955V
p.A871V
20.70.0212Cukier2014 E
CFAP47     Cukier2014:37117chrX:
36091379-36091379
ACexonicUnknownnonsynonymous SNVNM_001304548c.A4589Cp.H1530P10.850.0098Cukier2014 E
CSMD1     Cukier2014:17122chr8:
3253832-3253832
CTexonicUnknownnonsynonymous SNVNM_033225c.G2477Ap.G826D16.61-Cukier2014 E
CTSZ     Cukier2014:17122chr20:
57572709-57572709
AGexonicUnknownnonsynonymous SNVNM_001336c.T587Cp.L196P16.880.005Cukier2014 E
CYP4X1     Cukier2014:7797chr1:
47498961-47498961
GAexonicUnknownnonsynonymous SNVNM_178033c.G413Ap.R138H13.850.0013Cukier2014 E
CYTL1     Cukier2014:7637chr4:
5016883-5016883
GAexonicUnknownnonsynonymous SNVNM_018659c.C406Tp.R136C14.850.0355Cukier2014 E
CYP2C18     Cukier2014:17302chr10:
96447920-96447920
CTexonicUnknownnonsynonymous SNVNM_000772
NM_001128925
c.C370T
c.C370T
p.R124W
p.R124W
15.570.0086Cukier2014 E
CYP4B1     Cukier2014:17545chr1:
47280830-47280830
AGexonicUnknownnonsynonymous SNVNM_000779
NM_001099772
c.A964G
c.A967G
p.S322G
p.S323G
28.20.0103Cukier2014 E
DCHS1     Cukier2014:18074chr11:
6661600-6661600
GTexonicUnknownnonsynonymous SNVNM_003737c.C1245Ap.S415R15.530.0065Cukier2014 E
DCLRE1A     Cukier2014:37425chr10:
115602192-115602192
TAexonicUnknownnonsynonymous SNVNM_014881
NM_001271816
c.A2575T
c.A2575T
p.I859F
p.I859F
24.10.0027Cukier2014 E
DAO     Cukier2014:7663chr12:
109293187-109293187
GAexonicUnknownnonsynonymous SNVNM_001917c.G848Ap.R283Q16.722.0E-4Cukier2014 E
DCBLD2     Cukier2014:7658chr3:
98600385-98600385
TCexonicUnknownnonsynonymous SNVNM_080927c.A432Gp.I144M15.10.0406Cukier2014 E
DLGAP2     Cukier2014:37117chr8:
1624708-1624708
GCexonicUnknownnonsynonymous SNVNM_001277161
NM_004745
c.G1930C
c.G1972C
p.A644P
p.A658P
11.65-Cukier2014 E
DMXL1     Cukier2014:17678chr5:
118505962-118505962
CTexonicUnknownnonsynonymous SNVNM_001290321
NM_001290322
NM_005509
c.C5476T
c.C4957T
c.C5476T
p.R1826C
p.R1653C
p.R1826C
17.172.0E-4Cukier2014 E
DEF6     Cukier2014:17351chr6:
35289153-35289153
ACexonicUnknownnonsynonymous SNVNM_022047c.A1862Cp.Q621P13.660.0045Cukier2014 E
DEFB128     Cukier2014:7637chr20:
168558-168558
AGexonicUnknownnonsynonymous SNVNM_001037732c.T251Cp.I84T7.8640.0092Cukier2014 E
DNAH10     Cukier2014:7936chr12:
124356105-124356105
GTexonicUnknownnonsynonymous SNVNM_207437c.G7387Tp.A2463S31.0-Cukier2014 E
DNAH10     Cukier2014:7936chr12:
124401027-124401027
CAexonicUnknownnonsynonymous SNVNM_207437c.C10392Ap.D3464E18.10.0116Cukier2014 E
DMXL1     Cukier2014:37674chr5:
118506652-118506652
CTexonicUnknownnonsynonymous SNVNM_001290321
NM_001290322
NM_005509
c.C6166T
c.C5647T
c.C6166T
p.R2056C
p.R1883C
p.R2056C
16.854.124E-5Cukier2014 E
DNAAF1     Cukier2014:17351chr16:
84211403-84211403
CGexonicUnknownnonsynonymous SNVNM_178452c.C2134Gp.P712A0.0110.002Cukier2014 E
DNAH9     Cukier2014:7590chr17:
11840819-11840819
GTexonicUnknownnonsynonymous SNVNM_004662
NM_001372
c.G1576T
c.G12640T
p.G526C
p.G4214C
16.990.0024Cukier2014 E
DNAJC30     Cukier2014:7506chr7:
73097713-73097713
GAexonicUnknownnonsynonymous SNVNM_032317c.C41Tp.P14L9.2420.0322Cukier2014 E
DNAH6     Cukier2014:7936chr2:
84928399-84928399
CAexonicUnknownnonsynonymous SNVNM_001370c.C7997Ap.S2666Y21.70.0017Cukier2014 E
DNAH8     Cukier2014:37425chr6:
38957948-38957948
CTexonicUnknownnonsynonymous SNVNM_001206927c.C13214Tp.T4405M23.34.0E-4Cukier2014 E
DTHD1     Cukier2014:37232chr4:
36340755-36340755
CAexonicUnknownnonsynonymous SNVNM_001136536
NM_001170700
c.C1492A
c.C1987A
p.P498T
p.P663T
20.10.0352Cukier2014 E
EDC4     Cukier2014:7531chr16:
67913976-67913976
GAexonicUnknownnonsynonymous SNVNM_014329c.G1954Ap.E652K21.00.0012Cukier2014 E
DOCK8     Cukier2014:7590chr9:
312134-312134
GAexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G505A
c.G505A
c.G709A
p.E169K
p.E169K
p.E237K
17.970.0288Cukier2014 E
DSEL     Cukier2014:7503chr18:
65179657-65179657
TCexonicUnknownnonsynonymous SNVNM_032160c.A2219Gp.Y740C15.140.0036Cukier2014 E
EFCAB7     Cukier2014:37425chr1:
64011657-64011657
AGexonicUnknownnonsynonymous SNVNM_032437c.A875Gp.Y292C21.50.0072Cukier2014 E
EFS     Cukier2014:37425chr14:
23829490-23829490
CTexonicUnknownnonsynonymous SNVNM_001277174
NM_032459
NM_005864
c.G19A
c.G19A
c.G298A
p.V7M
p.V7M
p.V100M
15.070.0125Cukier2014 E
EFCAB5     Cukier2014:17678chr17:
28268857-28268857
GAsplicingUnknownsplicing12.70.007Cukier2014 E
EFCAB6     Cukier2014:37024chr22:
44004465-44004465
CTexonicUnknownnonsynonymous SNVNM_198856
NM_022785
c.G2122A
c.G2578A
p.D708N
p.D860N
17.30.0017Cukier2014 E
EHMT2     Cukier2014:7435chr6:
31864538-31864538
GAexonicUnknownnonsynonymous SNVNM_001289413
NM_006709
NM_025256
c.C344T
c.C173T
c.C173T
p.S115F
p.S58F
p.S58F
9.0110.0181Cukier2014 E
EMILIN1     Cukier2014:17342chr2:
27308159-27308159
GAexonicUnknownnonsynonymous SNVNM_007046c.G2707Ap.E903K3.6960.0198Cukier2014 E
EGFLAM     Cukier2014:17351chr5:
38418311-38418311
CAexonicUnknownnonsynonymous SNVNM_182798
NM_001205301
NM_152403
c.C936A
c.C1638A
c.C1638A
p.D312E
p.D546E
p.D546E
24.10.003Cukier2014 E
EHHADH     Cukier2014:37037chr3:
184910078-184910078
GAexonicUnknownnonsynonymous SNVNM_001166415
NM_001966
c.C1820T
c.C2108T
p.S607F
p.S703F
18.120.0097Cukier2014 E
ESPL1     Cukier2014:17342chr12:
53682043-53682043
CGexonicUnknownnonsynonymous SNVNM_012291c.C4464Gp.I1488M17.190.0085Cukier2014 E
EVI2A     Cukier2014:37150chr17:
29645473-29645473
CTexonicUnknownnonsynonymous SNVNM_014210
NM_001003927
c.G559A
c.G628A
p.G187S
p.G210S
18.280.0032Cukier2014 E
EPHA1     Cukier2014:17545chr7:
143095153-143095153
CTexonicUnknownnonsynonymous SNVNM_005232c.G1475Ap.R492Q2.8140.0121Cukier2014 E
EPPK1     Cukier2014:7745chr8:
144941198-144941198
TGexonicUnknownnonsynonymous SNVNM_031308c.A6224Cp.Q2075P14.610.012Cukier2014 E
FAM169A     Cukier2014:37117chr5:
74101028-74101028
CTexonicUnknownnonsynonymous SNVNM_015566c.G752Ap.R251Q29.7-Cukier2014 E
FAM173B     Cukier2014:7936chr5:
10236693-10236693
AGexonicUnknownnonsynonymous SNVNM_001258388
NM_001258389
NM_199133
c.T341C
c.T341C
c.T341C
p.V114A
p.V114A
p.V114A
10.550.0226Cukier2014 E
F13A1     Cukier2014:37994chr6:
6251120-6251120
TAexonicUnknownnonsynonymous SNVNM_000129c.A614Tp.Y205F16.860.0172Cukier2014 E
FAM166B     Cukier2014:7590chr9:
35563361-35563361
GAexonicUnknownnonsynonymous SNVNM_001099951
NM_001164310
NM_001287238
NM_001287239
c.C88T
c.C88T
c.C88T
c.C88T
p.R30W
p.R30W
p.R30W
p.R30W
19.570.0475Cukier2014 E
FANCD2     Cukier2014:37150chr3:
10115047-10115047
GAsplicingUnknownsplicing16.482.0E-4Cukier2014 E
FAT1     Cukier2014:37037chr4:
187518041-187518041
TCexonicUnknownnonsynonymous SNVNM_005245c.A12653Gp.D4218G14.120.0107Cukier2014 E
FAM184B     Cukier2014:17545chr4:
17690072-17690072
TCexonicUnknownnonsynonymous SNVNM_015688c.A1571Gp.Q524R6.0180.0377Cukier2014 E
FAM71A     Cukier2014:37534chr1:
212799139-212799139
AGexonicUnknownnonsynonymous SNVNM_153606c.A920Gp.Q307R12.170.0127Cukier2014 E
FAT4     Cukier2014:7713chr4:
126373570-126373570
CTexonicUnknownnonsynonymous SNVNM_001291285
NM_001291303
NM_024582
c.C11405T
c.C11405T
c.C11399T
p.S3802F
p.S3802F
p.S3800F
17.630.0373Cukier2014 E
FBF1     Cukier2014:17545chr17:
73915803-73915803
GAexonicUnknownnonsynonymous SNVNM_001080542c.C2039Tp.A680V16.280.0231Cukier2014 E
FAT1     Cukier2014:17545chr4:
187549364-187549364
GAexonicUnknownnonsynonymous SNVNM_005245c.C4754Tp.T1585M15.860.0066Cukier2014 E
FAT1     Cukier2014:17545chr4:
187557908-187557908
CTexonicUnknownnonsynonymous SNVNM_005245c.G3803Ap.R1268Q9.8110.0065Cukier2014 E
FBP2     Cukier2014:17342chr9:
97321404-97321404
AGexonicUnknownnonsynonymous SNVNM_003837c.T836Cp.L279P21.10.005Cukier2014 E
FBXL14     Cukier2014:17122chr12:
1702929-1702929
TGexonicUnknownnonsynonymous SNVNM_152441c.A304Cp.N102H18.110.0028Cukier2014 E
FBN3     Cukier2014:7590chr19:
8175770-8175770
TAexonicUnknownnonsynonymous SNVNM_032447c.A4292Tp.N1431I7.4590.0035Cukier2014 E
FBN3     Cukier2014:37674chr19:
8183871-8183871
GAexonicUnknownnonsynonymous SNVNM_032447c.C3247Tp.R1083W16.290.0635Cukier2014 E
FBXO36     Cukier2014:37425chr2:
230841011-230841011
CTexonicUnknownnonsynonymous SNVNM_174899c.C151Tp.P51S23.60.0048Cukier2014 E
FBXO40     Cukier2014:37425chr3:
121340955-121340955
GAexonicUnknownnonsynonymous SNVNM_016298c.G679Ap.A227T14.370.0139Cukier2014 E
FBXO30     Cukier2014:7658chr6:
146121343-146121343
CGexonicUnknownnonsynonymous SNVNM_032145c.G2137Cp.E713Q19.65-Cukier2014 E
FBXO30     Cukier2014:37994chr6:
146126163-146126163
GAexonicUnknownnonsynonymous SNVNM_032145c.C1379Tp.T460I19.60.0013Cukier2014 E
MROH5     Cukier2014:37037chr8:
142500315-142500315
GAexonicUnknownunknown-0.0144Cukier2014 E
FRK     Cukier2014:37674chr6:
116325108-116325108
GAexonicUnknownnonsynonymous SNVNM_002031c.C398Tp.S133L17.060.008Cukier2014 E
FGD6     Cukier2014:37994chr12:
95604078-95604078
GAexonicUnknownstopgainNM_018351c.C982Tp.Q328X27.5-Cukier2014 E
FLII     Cukier2014:7590chr17:
18148534-18148534
CTexonicUnknownnonsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.G3563A
c.G3695A
c.G3728A
p.R1188H
p.R1232H
p.R1243H
24.20.0175Cukier2014 E
FSTL5     Cukier2014:17302chr4:
162697058-162697058
CTexonicUnknownnonsynonymous SNVNM_001128427
NM_001128428
NM_020116
c.G575A
c.G575A
c.G578A
p.G192E
p.G192E
p.G193E
22.50.0152Cukier2014 E
FYCO1     Cukier2014:17351chr3:
46003735-46003735
CTexonicUnknownnonsynonymous SNVNM_024513c.G3419Ap.R1140Q36.00.0104Cukier2014 E
FRY     Cukier2014:17678chr13:
32785102-32785102
GAexonicUnknownnonsynonymous SNVNM_023037c.G4522Ap.V1508I18.815.0E-4Cukier2014 E
FSIP2     Cukier2014:7606chr2:
186654867-186654867
GCexonicUnknownnonsynonymous SNVNM_173651c.G3271Cp.D1091H12.610.1802Cukier2014 E
GALM     Cukier2014:17342chr2:
38956836-38956836
CGexonicUnknownnonsynonymous SNVNM_138801c.C773Gp.A258G24.73.0E-4Cukier2014 E
GDF15     Cukier2014:7506chr19:
18499119-18499119
CGexonicUnknownnonsynonymous SNVNM_004864c.C301Gp.L101V22.34.0E-4Cukier2014 E
FYCO1     Cukier2014:17351chr3:
46008983-46008983
GAexonicUnknownnonsynonymous SNVNM_024513c.C1843Tp.R615W16.160.0105Cukier2014 E
GAB2     Cukier2014:37994chr11:
77961261-77961261
CTexonicUnknownnonsynonymous SNVNM_012296
NM_080491
c.G448A
c.G562A
p.A150T
p.A188T
13.66-Cukier2014 E
GHRHR     Cukier2014:7870chr7:
31018852-31018852
TCexonicUnknownnonsynonymous SNVNM_000823c.T1265Cp.M422T8.3550.0411Cukier2014 E
GJA8     Cukier2014:7663chr1:
147380740-147380740
AGexonicUnknownnonsynonymous SNVNM_005267c.A658Gp.N220D17.70.0026Cukier2014 E
GEMIN5     Cukier2014:17678chr5:
154307070-154307070
GCexonicUnknownnonsynonymous SNVNM_001252156
NM_015465
c.C952G
c.C955G
p.R318G
p.R319G
28.40.0198Cukier2014 E
GGT6     Cukier2014:18074chr17:
4463713-4463713
AGexonicUnknownnonsynonymous SNVNM_001122890
NM_001288702
NM_001288703
NM_001288704
NM_153338
c.T104C
c.T104C
c.T104C
c.T104C
c.T104C
p.L35P
p.L35P
p.L35P
p.L35P
p.L35P
15.530.0211Cukier2014 E
ADGRF3     Cukier2014:17342chr2:
26536727-26536727
CTexonicUnknownnonsynonymous SNVNM_153835
NM_001145169
NM_001145168
c.G580A
c.G970A
c.G1177A
p.V194I
p.V324I
p.V393I
12.630.0255Cukier2014 E
GPR142     Cukier2014:7713chr17:
72366761-72366761
GAexonicUnknownnonsynonymous SNVNM_181790c.G460Ap.V154M17.720.0013Cukier2014 E
GLIS3     Cukier2014:37425chr9:
4118634-4118634
GCexonicUnknownnonsynonymous SNVNM_152629
NM_001042413
c.C379G
c.C844G
p.P127A
p.P282A
12.590.002Cukier2014 E
GLUD2     Cukier2014:37150chrX:
120181950-120181950
CTexonicUnknownstopgainNM_012084c.C412Tp.Q138X21.44.0E-4Cukier2014 E
GRIN3B     Cukier2014:37024chr19:
1008645-1008645
CAexonicUnknownnonsynonymous SNVNM_138690c.C2495Ap.A832E13.350.0102Cukier2014 E
GRM2     Cukier2014:7658chr3:
51747288-51747288
GAexonicUnknownnonsynonymous SNVNM_000839c.G1250Ap.R417H22.10.0149Cukier2014 E
GPR84     Cukier2014:17342chr12:
54757199-54757199
AGexonicUnknownnonsynonymous SNVNM_020370c.T437Cp.V146A10.310.0011Cukier2014 E
GPRC6A     Cukier2014:7590chr6:
117113315-117113315
GAexonicUnknownnonsynonymous SNVNM_001286355
NM_001286354
NM_148963
c.C2558T
c.C2246T
c.C2771T
p.S853L
p.S749L
p.S924L
14.050.0165Cukier2014 E
DNAAF5     Cukier2014:17122chr7:
803506-803506
CTexonicUnknownnonsynonymous SNVNM_017802c.C1678Tp.R560C12.310.0049Cukier2014 E
MROH2A     Cukier2014:37037chr2:
234713681-234713681
GTexonicUnknownnonsynonymous SNVNM_001287395c.G1985Tp.G662V16.280.0255Cukier2014 E
GRM6     Cukier2014:37037chr5:
178413163-178413163
GCexonicUnknownnonsynonymous SNVNM_000843c.C2092Gp.L698V11.330.0049Cukier2014 E
GUCA1B     Cukier2014:7936chr6:
42153428-42153428
CAexonicUnknownnonsynonymous SNVNM_002098c.G465Tp.E155D11.820.0087Cukier2014 E
HIVEP1     Cukier2014:37024chr6:
12163802-12163802
GAexonicUnknownnonsynonymous SNVNM_002114c.G7265Ap.G2422E23.23.0E-4Cukier2014 E
HPS6     Cukier2014:7435chr10:
103825865-103825865
GAexonicUnknownnonsynonymous SNVNM_024747c.G634Ap.V212M12.632.0E-4Cukier2014 E
HHIPL2     Cukier2014:7713chr1:
222712108-222712108
GTexonicUnknownnonsynonymous SNVNM_024746c.C1459Ap.L487M17.110.004Cukier2014 E
HIF1A     Cukier2014:17545chr14:
62204808-62204808
CTexonicUnknownnonsynonymous SNVNM_001243084
NM_001530
NM_181054
c.C1325T
c.C1253T
c.C1253T
p.T442I
p.T418I
p.T418I
15.180.0038Cukier2014 E
IGSF10     Cukier2014:37994chr3:
151154509-151154509
CTexonicUnknownnonsynonymous SNVNM_001178145
NM_001178146
NM_178822
c.G1921A
c.G1777A
c.G7840A
p.D641N
p.D593N
p.D2614N
26.00.0081Cukier2014 E
IL17RB     Cukier2014:17545chr3:
53889368-53889368
GAexonicUnknownnonsynonymous SNVNM_018725c.G529Ap.G177R18.820.0045Cukier2014 E
HTR7     Cukier2014:17302chr10:
92509055-92509055
GAexonicUnknownnonsynonymous SNVNM_000872
NM_019859
NM_019860
c.C836T
c.C836T
c.C836T
p.P279L
p.P279L
p.P279L
16.210.002Cukier2014 E
IGDCC4     Cukier2014:7658chr15:
65677446-65677446
CAexonicUnknownnonsynonymous SNVNM_020962c.G3188Tp.W1063L17.890.0212Cukier2014 E
IQCB1     Cukier2014:7658chr3:
121500697-121500697
GAexonicUnknownnonsynonymous SNVNM_001023571
NM_001023570
c.C904T
c.C1303T
p.R302C
p.R435C
14.220.0156Cukier2014 E
IQGAP2     Cukier2014:7637chr5:
75960968-75960968
GCexonicUnknownnonsynonymous SNVNM_001285461
NM_001285462
NM_001285460
NM_006633
c.G1135C
c.G1135C
c.G2497C
c.G2647C
p.E379Q
p.E379Q
p.E833Q
p.E883Q
28.90.0034Cukier2014 E
IL4R     Cukier2014:7506chr16:
27374696-27374696
CTexonicUnknownnonsynonymous SNVNM_001257406
NM_001257997
NM_000418
NM_001257407
c.C2023T
c.C1543T
c.C2023T
c.C1978T
p.P675S
p.P515S
p.P675S
p.P660S
12.040.0109Cukier2014 E
PATJ     Cukier2014:17122chr1:
62582847-62582847
CGexonicUnknownnonsynonymous SNVNM_176877c.C4847Gp.A1616G18.620.013Cukier2014 E
ITGA9     Cukier2014:17342chr3:
37785454-37785454
GAexonicUnknownnonsynonymous SNVNM_002207c.G2362Ap.V788M14.540.0027Cukier2014 E
ITSN2     Cukier2014:7435chr2:
24435599-24435599
GAexonicUnknownnonsynonymous SNVNM_019595
NM_006277
c.C3928T
c.C4009T
p.R1310W
p.R1337W
16.520.0288Cukier2014 E
IRAK2     Cukier2014:37425chr3:
10219567-10219567
CAexonicUnknownnonsynonymous SNVNM_001570c.C140Ap.S47Y19.760.0125Cukier2014 E
ISM1     Cukier2014:37425chr20:
13251316-13251316
TCexonicUnknownnonsynonymous SNVNM_080826c.T304Cp.S102P14.280.0223Cukier2014 E
KCNB1     Cukier2014:7503chr20:
47989527-47989527
CTexonicUnknownnonsynonymous SNVNM_004975c.G2570Ap.S857N12.640.0115Cukier2014 E
KCNB2     Cukier2014:3836chr8:
73849256-73849256
CTexonicUnknownnonsynonymous SNVNM_004770c.C1666Tp.P556S1.4881.0E-4Cukier2014 E
JAK3     Cukier2014:37150chr19:
17945696-17945696
CTexonicUnknownnonsynonymous SNVNM_000215c.G2164Ap.V722I8.4730.0086Cukier2014 E
JARID2     Cukier2014:37994chr6:
15496930-15496930
CTexonicUnknownnonsynonymous SNVNM_001267040
NM_004973
c.C958T
c.C1474T
p.R320C
p.R492C
16.010.0087Cukier2014 E
KIAA1257       Cukier2014:37425chr3:
128711946-128711946
CAexonicUnknownnonsynonymous SNVNM_020741c.G202Tp.D68Y17.120.0023Cukier2014 E
KIAA1468     Cukier2014:7663chr18:
59854886-59854886
GAexonicUnknownnonsynonymous SNVNM_020854c.G148Ap.G50S24.30.0069Cukier2014 E
KCNB2     Cukier2014:17678chr8:
73850175-73850175
AGexonicUnknownnonsynonymous SNVNM_004770c.A2585Gp.N862S16.452.0E-4Cukier2014 E
KEL     Cukier2014:17122chr7:
142655008-142655008
GAexonicUnknownnonsynonymous SNVNM_000420c.C578Tp.T193M11.860.0274Cukier2014 E
KLHL1     Cukier2014:17342chr13:
70370894-70370894
TCexonicUnknownnonsynonymous SNVNM_001286725
NM_020866
c.A1432G
c.A1615G
p.M478V
p.M539V
19.49-Cukier2014 E
KNG1     Cukier2014:17545chr3:
186461524-186461524
CTexonicUnknownstopgainNM_001166451
NM_000893
c.C1126T
c.C1234T
p.R376X
p.R412X
38.00.0313Cukier2014 E
KIAA1614     Cukier2014:7713chr1:
180905263-180905263
CTexonicUnknownnonsynonymous SNVNM_020950c.C2218Tp.R740W10.90.0392Cukier2014 E
PPP1R18     Cukier2014:37425chr6:
30652729-30652729
GAexonicUnknownnonsynonymous SNVNM_133471
NM_001134870
c.C1067T
c.C1067T
p.P356L
p.P356L
2.1260.0053Cukier2014 E
LCN12     Cukier2014:37674chr9:
139849847-139849847
GCexonicUnknownnonsynonymous SNVNM_178536c.G575Cp.C192S13.180.0015Cukier2014 E
LCN2     Cukier2014:7606chr9:
130914200-130914200
CTexonicUnknownnonsynonymous SNVNM_005564c.C371Tp.T124M8.1720.0026Cukier2014 E
LAMA2     Cukier2014:17342chr6:
129513850-129513850
TAexonicUnknownnonsynonymous SNVNM_000426
NM_001079823
c.T1634A
c.T1634A
p.L545Q
p.L545Q
21.40.0028Cukier2014 E
LARS2     Cukier2014:17545chr3:
45518073-45518073
CAexonicUnknownnonsynonymous SNVNM_015340c.C972Ap.H324Q7.9480.0223Cukier2014 E
LIPI     Cukier2014:18074chr21:
15524921-15524921
CTexonicUnknownnonsynonymous SNVNM_001302999
NM_001302998
NM_001303000
NM_198996
c.G1001A
c.G1091A
c.G1073A
c.G1154A
p.G334E
p.G364E
p.G358E
p.G385E
23.80.0711Cukier2014 E
LIPT2     Cukier2014:17678chr11:
74203256-74203256
TAexonicUnknownnonsynonymous SNVNM_001144869c.A620Tp.E207V23.00.0111Cukier2014 E
LDLRAD3     Cukier2014:7797chr11:
36057670-36057670
GAexonicUnknownnonsynonymous SNVNM_174902c.G64Ap.G22R24.92.0E-4Cukier2014 E
LIG1     Cukier2014:37037chr19:
48624555-48624555
CTexonicUnknownnonsynonymous SNVNM_001289064
NM_001289063
NM_000234
c.G2053A
c.G2164A
c.G2257A
p.V685M
p.V722M
p.V753M
15.070.0072Cukier2014 E
LRRC8E     Cukier2014:7506chr19:
7964482-7964482
GAexonicUnknownnonsynonymous SNVNM_001268285
NM_025061
NM_001268284
c.G688A
c.G1075A
c.G1075A
p.V230I
p.V359I
p.V359I
19.530.0021Cukier2014 E
LSM14A     Cukier2014:7531chr19:
34706203-34706203
GAexonicUnknownnonsynonymous SNVNM_001114093
NM_015578
c.G713A
c.G713A
p.R238Q
p.R238Q
14.020.0204Cukier2014 E
LLGL1     Cukier2014:17678chr17:
18145552-18145552
CAexonicUnknownnonsynonymous SNVNM_004140c.C2955Ap.S985R12.772.0E-4Cukier2014 E
LRPAP1     Cukier2014:7637chr4:
3526715-3526715
CTexonicUnknownnonsynonymous SNVNM_002337c.G268Ap.E90K20.12.0E-4Cukier2014 E
MAP3K1     Cukier2014:7637chr5:
56155672-56155672
AGexonicUnknownnonsynonymous SNVNM_005921c.A764Gp.N255S13.570.0203Cukier2014 E
MAP3K10     Cukier2014:7506chr19:
40698441-40698441
CAexonicUnknownnonsynonymous SNVNM_002446c.C503Ap.P168Q22.50.0016Cukier2014 E
LTBP2     Cukier2014:37994chr14:
74976452-74976452
CTexonicUnknownnonsynonymous SNVNM_000428c.G3262Ap.G1088S18.250.0335Cukier2014 E
LYSMD3     Cukier2014:17342chr5:
89815108-89815108
GTexonicUnknownnonsynonymous SNVNM_198273c.C449Ap.S150Y13.460.012Cukier2014 E
MCM7     Cukier2014:7797chr7:
99695873-99695873
GAexonicUnknownnonsynonymous SNVNM_001278595
NM_182776
NM_005916
c.C233T
c.C233T
c.C761T
p.T78M
p.T78M
p.T254M
17.461.0E-4Cukier2014 E
MDC1     Cukier2014:37425chr6:
30679963-30679963
ACexonicUnknownnonsynonymous SNVNM_014641c.T1756Gp.S586A7.1930.0053Cukier2014 E
MAP3K4     Cukier2014:17342chr6:
161470544-161470544
TGexonicUnknownnonsynonymous SNVNM_001301072
NM_005922
NM_006724
c.T1240G
c.T1240G
c.T1240G
p.L414V
p.L414V
p.L414V
18.075.769E-5Cukier2014 E
MAP3K4     Cukier2014:17342chr6:
161508880-161508880
ACexonicUnknownnonsynonymous SNVNM_001301072
NM_005922
NM_006724
NM_001291958
c.A2717C
c.A2717C
c.A2717C
c.A1076C
p.H906P
p.H906P
p.H906P
p.H359P
13.590.0235Cukier2014 E
MDP1     Cukier2014:7531chr14:
24683304-24683304
CAexonicUnknownnonsynonymous SNVNM_001199821
NM_138476
NM_001199823
c.G317T
c.G457T
c.G508T
p.R106M
p.G153W
p.G170W
19.140.0078Cukier2014 E
MELK     Cukier2014:7590chr9:
36583642-36583642
AGexonicUnknownnonsynonymous SNVNM_001256685
NM_001256687
NM_001256688
NM_014791
c.A77G
c.A77G
c.A77G
c.A77G
p.K26R
p.K26R
p.K26R
p.K26R
27.40.005Cukier2014 E
MDC1     Cukier2014:37425chr6:
30680968-30680968
CTexonicUnknownnonsynonymous SNVNM_014641c.G751Ap.E251K11.690.0053Cukier2014 E
MDM1     Cukier2014:37232chr12:
68720534-68720534
AGexonicUnknownnonsynonymous SNVNM_001205028
NM_017440
NM_020128
c.T401C
c.T401C
c.T401C
p.V134A
p.V134A
p.V134A
6.0360.0174Cukier2014 E
MICA     Cukier2014:37425chr6:
31378965-31378965
GAexonicUnknownnonsynonymous SNVNM_000247
NM_001177519
NM_001289152
NM_001289153
c.G442A
c.G442A
c.G151A
c.G151A
p.E148K
p.E148K
p.E51K
p.E51K
4.2480.0097Cukier2014 E
KMT2B     Cukier2014:17342chr19:
36216691-36216691
CTexonicUnknownnonsynonymous SNVNM_014727c.C3857Tp.T1286I16.794.13E-5Cukier2014 E
MGA     Cukier2014:37232chr15:
42021512-42021512
TCexonicUnknownnonsynonymous SNVNM_001080541
NM_001164273
c.T3808C
c.T3808C
p.C1270R
p.C1270R
15.590.0344Cukier2014 E
MGST3     Cukier2014:37150chr1:
165619079-165619079
CTUTR5Unknown4.9730.0307Cukier2014 E
MOG     Cukier2014:7936chr6:
29627222-29627222
CAexonicUnknownnonsynonymous SNVNM_001008228
NM_001008229
NM_002433
NM_206809
NM_206810
NM_206811
NM_206812
c.C215A
c.C215A
c.C215A
c.C215A
c.C215A
c.C215A
c.C215A
p.P72H
p.P72H
p.P72H
p.P72H
p.P72H
p.P72H
p.P72H
18.530.022Cukier2014 E
MRGPRX4     Cukier2014:18074chr11:
18195609-18195609
CTexonicUnknownnonsynonymous SNVNM_054032c.C806Tp.P269L15.20.0064Cukier2014 E
KMT2E     Cukier2014:37037chr7:
104747899-104747899
GTexonicUnknownnonsynonymous SNVNM_018682
NM_182931
c.G2995T
c.G2995T
p.G999C
p.G999C
24.20.0377Cukier2014 E
MNS1     Cukier2014:37425chr15:
56723692-56723692
CTexonicUnknownnonsynonymous SNVNM_018365c.G1274Ap.R425H13.110.0015Cukier2014 E
MUC17     Cukier2014:37024chr7:
100692149-100692149
CTexonicUnknownstopgainNM_001040105c.C12559Tp.Q4187X52.00.0012Cukier2014 E
MYH8