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Exact

Results for "Dou2017"

Variant Events: 904

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
PPP1R9A     13037.p1chr7:
94539985-94539985
CTexonicMosaic Pat.nonsynonymous SNVNM_001166161
NM_001166162
NM_001166163
NM_001166160
NM_017650
c.C560T
c.C560T
c.C560T
c.C560T
c.C560T
p.S187F
p.S187F
p.S187F
p.S187F
p.S187F
21.0-Dou2017 E
CYB561D1     14252.p1chr1:
110038457-110038457
GTexonicMosaicstopgainNM_001134403c.G370Tp.G124X20.38.237E-6Dou2017 E
CYP3A43     13236.p1chr7:
99457566-99457566
GAexonicMosaicnonsynonymous SNVNM_001278921
NM_022820
NM_057095
NM_057096
c.G649A
c.G979A
c.G979A
c.G979A
p.V217I
p.V327I
p.V327I
p.V327I
7.782-Dou2017 E
GRIK2     13497.p1chr6:
102247525-102247525
TCexonicMosaic Pat.synonymous SNVNM_001166247
NM_021956
NM_175768
c.T954C
c.T954C
c.T954C
p.T318T
p.T318T
p.T318T
-8.241E-6Dou2017 E
NUBP2     11651.p1chr16:
1836498-1836498
CTintronicMosaic--Dou2017 E
MYOT     12501.p1chr5:
137221871-137221871
GAexonicMosaic Mat.nonsynonymous SNVNM_001135940
NM_006790
NM_001300911
c.G607A
c.G1159A
c.G814A
p.E203K
p.E387K
p.E272K
35.04.954E-5Dou2017 E
PLOD3     13846.p1chr7:
100850973-100850973
CTexonicMosaicsynonymous SNVNM_001084c.G1821Ap.V607V--Dou2017 E
TAS2R3     13922.p1chr7:
141464367-141464367
GAexonicMosaicnonsynonymous SNVNM_016943c.G409Ap.A137T16.06-Dou2017 E
RNF128     12597.p1chrX:
106031215-106031215
GAexonicMosaicnonsynonymous SNVNM_024539
NM_194463
c.G794A
c.G872A
p.R265H
p.R291H
23.4-Dou2017 E
ZNF862     14548.p1chr7:
149544968-149544968
GAexonicMosaicnonsynonymous SNVNM_001099220c.G386Ap.R129K5.621-Dou2017 E
MPEG1     13617.p1chr11:
58979891-58979891
CGexonicMosaicnonsynonymous SNVNM_001039396c.G448Cp.V150L18.07-Dou2017 E
KCTD17     14153.p1chr22:
37453538-37453538
GAintronicMosaic-5.311E-5Dou2017 E
MTMR9     12534.p1chr8:
11172535-11172535
CAexonicMosaicnonsynonymous SNVNM_015458c.C1075Ap.R359S16.461.648E-5Dou2017 E
PRKDC     12266.p1chr8:
48827944-48827944
CAexonicMosaicunknown17.63-Dou2017 E
EYA1     13881.p1chr8:
72246332-72246332
CGexonicMosaicnonsynonymous SNVNM_172060
NM_172058
NM_172059
NM_000503
NM_001288574
c.G103C
c.G202C
c.G202C
c.G202C
c.G202C
p.A35P
p.A68P
p.A68P
p.A68P
p.A68P
25.1-Dou2017 E
CA2     13630.p1chr8:
86392904-86392904
GAexonicMosaicsynonymous SNVNM_001293675
NM_000067
c.G366A
c.G669A
p.L122L
p.L223L
--Dou2017 E
FBXO43     12180.p1chr8:
101153250-101153250
GCexonicMosaicnonsynonymous SNVNM_001029860c.C1232Gp.A411G0.841-Dou2017 E
TBC1D31     13975.p1chr8:
124140567-124140567
GCexonicMosaicnonsynonymous SNVNM_001145088
NM_145647
c.G1931C
c.G1931C
p.R644T
p.R644T
11.91-Dou2017 E
TOP1MT     14607.p1chr8:
144397947-144397947
CTexonicMosaicsynonymous SNVNM_001258447
NM_052963
NM_001258446
c.G1209A
c.G1503A
c.G1209A
p.L403L
p.L501L
p.L403L
2.764-Dou2017 E
ZC3H3     12922.p1chr8:
144550618-144550618
CTexonicMosaicnonsynonymous SNVNM_015117c.G2039Ap.G680D23.6-Dou2017 E
RIC1     13638.p1chr9:
5769178-5769178
AGexonicMosaicnonsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.A3235G
c.A3346G
c.A3346G
p.K1079E
p.K1116E
p.K1116E
11.678.25E-6Dou2017 E
NDC80     12842.p1chr18:
2595619-2595619
CTexonicMosaicnonsynonymous SNVNM_006101c.C1220Tp.A407V14.918.376E-6Dou2017 E
MRPL50     13688.p1chr9:
104153072-104153072
CAexonicMosaicsynonymous SNVNM_019051c.G153Tp.V51V--Dou2017 E
PTGR1     11526.p1chr9:
114341206-114341206
CTexonicMosaicnonsynonymous SNVNM_001146108
NM_001146109
NM_012212
c.G521A
c.G521A
c.G521A
p.G174E
p.G174E
p.G174E
16.61-Dou2017 E
COL27A1     13830.p1chr9:
116968504-116968504
CTintronicMosaic--Dou2017 E
OR1L1     14358.p1chr9:
125423938-125423938
TCupstreamMosaic5.7218.259E-6Dou2017 E
GAPVD1     14592.p1chr9:
128118025-128118025
CAexonicMosaic Pat.nonsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680
c.C3797A
c.C3941A
c.C3914A
c.C3860A
p.A1266E
p.A1314E
p.A1305E
p.A1287E
34.0-Dou2017 E
NOTCH1     11097.p1chr9:
139390959-139390959
GAexonicMosaicnonsynonymous SNVNM_017617c.C7232Tp.P2411L1.913-Dou2017 E
TUBB8     14485.p1chr10:
93257-93257
GAexonicMosaic Pat.nonsynonymous SNVNM_177987c.C1075Tp.R359W10.710.0011Dou2017 E
UCMA     11367.p1chr10:
13275601-13275601
CTexonicMosaic Mat.nonsynonymous SNVNM_145314c.G157Ap.D53N27.5-Dou2017 E
VPS13D     12108.p1chr1:
12428626-12428626
CTexonicMosaicstopgainNM_018156
NM_015378
c.C10477T
c.C10552T
p.R3493X
p.R3518X
53.08.31E-6Dou2017 E
PPP1R8     11432.p1chr1:
28169828-28169828
GAexonicMosaicsynonymous SNVNM_014110
NM_138558
c.G624A
c.G198A
p.E208E
p.E66E
--Dou2017 E
C8A     12604.p1chr1:
57347157-57347157
CTexonicMosaicsynonymous SNVNM_000562c.C504Tp.Y168Y-8.244E-6Dou2017 E
SEC24C     13702.p1chr10:
75526308-75526308
CTintronicMosaic--Dou2017 E
KLHL12     14678.p1chr1:
202880289-202880289
CTexonicMosaicnonsynonymous SNVNM_001303051
NM_001303109
NM_021633
c.G724A
c.G610A
c.G610A
p.V242M
p.V204M
p.V204M
33.0-Dou2017 E
LRP1B     11459.p1chr2:
141291600-141291600
TCexonicMosaicsynonymous SNVNM_018557c.A7752Gp.L2584L--Dou2017 E
MEF2C     14475.p1chr5:
88018537-88018537
GCexonicMosaicnonsynonymous SNVNM_001193348
NM_001193349
NM_001308002
NM_001131005
NM_001193350
NM_002397
NM_001193347
c.C1138G
c.C1066G
c.C1282G
c.C1276G
c.C1306G
c.C1306G
c.C1336G
p.R380G
p.R356G
p.R428G
p.R426G
p.R436G
p.R436G
p.R446G
16.61-Dou2017 E
ATG9A     12690.p1chr2:
220085973-220085973
GAexonicMosaicnonsynonymous SNVNM_024085
NM_001077198
c.C2197T
c.C2197T
p.R733W
p.R733W
21.01.107E-5Dou2017 E
ATR     12611.p1chr3:
142185303-142185303
TCexonicMosaicnonsynonymous SNVNM_001184c.A6760Gp.T2254A14.61-Dou2017 E
SCN10A     13809.p1chr3:
38770255-38770255
CTexonicMosaicsynonymous SNVNM_001293307
NM_001293306
NM_006514
c.G2124A
c.G2418A
c.G2418A
p.K708K
p.K806K
p.K806K
--Dou2017 E
SLC22A14     12523.p1chr3:
38349069-38349069
CTexonicMosaicsynonymous SNVNM_004803c.C633Tp.Y211Y-1.0E-4Dou2017 E
TCF7L2     13069.p1chr10:
114901076-114901076
GAsplicingMosaicsplicing29.5-Dou2017 E
TCF7L2     12090.p1chr10:
114910883-114910883
GAsplicingMosaicsplicing19.91-Dou2017 E
CCR3     13534.p1chr3:
46307288-46307288
CTexonicMosaicsynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328
c.C639T
c.C693T
c.C639T
c.C702T
p.L213L
p.L231L
p.L213L
p.L234L
-2.476E-5Dou2017 E
NWD2     11928.p1chr4:
37446620-37446620
CAexonicMosaicnonsynonymous SNVNM_001144990c.C3010Ap.Q1004K9.881-Dou2017 E
PIGG     13701.p1chr4:
499570-499570
CTexonicMosaicsynonymous SNVNM_001127178
NM_001289051
NM_001289053
NM_001289057
NM_017733
NM_001289055
c.C424T
c.C157T
c.C157T
c.C157T
c.C424T
c.C58T
p.L142L
p.L53L
p.L53L
p.L53L
p.L142L
p.L20L
--Dou2017 E
TCERG1L     13570.p1chr10:
132965064-132965064
TCexonicMosaic Mat.nonsynonymous SNVNM_174937c.A941Gp.D314G8.341-Dou2017 E
PSD2     13093.p1chr5:
139219740-139219740
CGexonicMosaicnonsynonymous SNVNM_032289c.C2097Gp.H699Q15.16-Dou2017 E
IP6K3     12100.p1chr6:
33694623-33694623
CTexonicMosaicsynonymous SNVNM_054111
NM_001142883
c.G474A
c.G474A
p.V158V
p.V158V
--Dou2017 E
FYN     11336.p1chr6:
112015899-112015899
GAexonicMosaicsynonymous SNVNM_153047
NM_153048
NM_002037
c.C1042T
c.C886T
c.C1051T
p.L348L
p.L296L
p.L351L
--Dou2017 E
IMPG1     13701.p1chr6:
76660802-76660802
CTexonicMosaicstopgainNM_001282368
NM_001563
c.G1067A
c.G1301A
p.W356X
p.W434X
25.0-Dou2017 E
MUC5B     11078.p1chr11:
1253773-1253773
CAexonicMosaicstopgainNM_002458c.C1937Ap.S646X38.0-Dou2017 E
LPA     12687.p1chr6:
160998168-160998168
GAexonicMosaicnonsynonymous SNVNM_005577c.C4631Tp.A1544V11.44.138E-5Dou2017 E
TULP4     12836.p1chr6:
158735185-158735185
TCexonicMosaicnonsynonymous SNVNM_001007466
NM_020245
c.T137C
c.T137C
p.L46P
p.L46P
21.7-Dou2017 E
THSD7A     13558.p1chr7:
11485770-11485770
GAexonicMosaicsynonymous SNVNM_015204c.C2982Tp.C994C--Dou2017 E
GPNMB     12913.p1chr7:
23296615-23296615
GAexonicMosaicnonsynonymous SNVNM_001005340
NM_002510
c.G472A
c.G472A
p.D158N
p.D158N
34.0-Dou2017 E
SHF     12123.p1chr15:
45465888-45465888
GAexonicMosaicnonsynonymous SNVNM_138356c.C679Tp.P227S27.9-Dou2017 E
TFR2     13018.p1chr7:
100229477-100229477
CAexonicMosaicnonsynonymous SNVNM_001206855
NM_003227
c.G545T
c.G1058T
p.S182I
p.S353I
13.61-Dou2017 E
KMT2C     13897.p1chr7:
151836804-151836804
GCexonicMosaicnonsynonymous SNVNM_170606c.C14416Gp.R4806G13.46-Dou2017 E
ZYX     11390.p1chr7:
143079777-143079777
GAexonicMosaicnonsynonymous SNVNM_001010972
NM_003461
c.G500A
c.G500A
p.R167Q
p.R167Q
14.078.237E-6Dou2017 E
TBC1D31     12153.p1chr8:
124142531-124142531
GAexonicMosaicsynonymous SNVNM_001145088
NM_145647
c.G2364A
c.G2364A
p.Q788Q
p.Q788Q
--Dou2017 E
EXT1     14555.p1chr8:
118830706-118830706
CTexonicMosaicnonsynonymous SNVNM_000127c.G1600Ap.V534M22.28.236E-6Dou2017 E
MYO3A     12070.p1chr10:
26455055-26455055
CTexonicMosaicnonsynonymous SNVNM_017433c.C3059Tp.A1020V14.37-Dou2017 E
FBXW5     14094.p1chr9:
139835997-139835997
GAexonicMosaicsynonymous SNVNM_018998c.C1236Tp.P412P-1.824E-5Dou2017 E
KCNC1     11016.p1chr11:
17793358-17793358
CTexonicMosaicsynonymous SNVNM_001112741
NM_004976
c.C717T
c.C717T
p.A239A
p.A239A
-9.884E-5Dou2017 E
ARHGAP19     12854.p1chr10:
99024633-99024633
GAexonicMosaicnonsynonymous SNVNM_001204300
NM_001256423
NM_032900
c.C353T
c.C326T
c.C353T
p.T118M
p.T109M
p.T118M
26.2-Dou2017 E
NAV2     11459.p1chr11:
20119143-20119143
CTexonicMosaicsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3225T
c.C5841T
c.C6033T
c.C6042T
c.C6210T
p.D1075D
p.D1947D
p.D2011D
p.D2014D
p.D2070D
--Dou2017 E
GUCY2C     13000.p1chr12:
14805939-14805939
CTexonicMosaicnonsynonymous SNVNM_004963c.G1480Ap.D494N26.7-Dou2017 E
KMT2D     14023.p1chr12:
49433800-49433800
CGexonicMosaicnonsynonymous SNVNM_003482c.G7753Cp.G2585R8.389-Dou2017 E
PTPN9     14284.p1chr15:
75815580-75815580
GAexonicMosaicnonsynonymous SNVNM_002833c.C304Tp.R102W21.5-Dou2017 E
OR5AR1     13855.p1chr11:
56431698-56431698
CTexonicMosaicsynonymous SNVNM_001004730c.C537Tp.C179C-8.238E-6Dou2017 E
SSRP1     11740.p1chr11:
57099680-57099680
CGexonicMosaicnonsynonymous SNVNM_003146c.G947Cp.R316P29.9-Dou2017 E
EXD2     13093.p1chr14:
69701564-69701564
GCexonicMosaicnonsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.G490C
c.G865C
c.G865C
c.G865C
c.G865C
p.D164H
p.D289H
p.D289H
p.D289H
p.D289H
25.9-Dou2017 E
VWCE     11074.p1chr11:
61050275-61050275
CGexonicMosaic Pat.nonsynonymous SNVNM_152718c.G644Cp.R215P15.111.648E-5Dou2017 E
LGMN     13922.p1chr14:
93170685-93170685
GAexonicMosaicsynonymous SNVNM_005606
NM_001008530
c.C1281T
c.C1281T
p.H427H
p.H427H
14.352.489E-5Dou2017 E
HECTD4     12540.p1chr12:
112638596-112638596
CAexonicMosaicstopgainNM_001109662c.G8011Tp.E2671X54.0-Dou2017 E
FLVCR2     14037.p1chr14:
76045663-76045663
CTexonicMosaicsynonymous SNVNM_017791c.C348Tp.Y116Y--Dou2017 E
FBN1     13438.p1chr15:
48717681-48717681
GAexonicMosaicsynonymous SNVNM_000138c.C7338Tp.N2446N-1.0E-4Dou2017 E
DMXL2     11942.p1chr15:
51791966-51791966
TCexonicMosaicnonsynonymous SNVNM_001174116
NM_015263
c.A3455G
c.A3455G
p.D1152G
p.D1152G
16.11-Dou2017 E
CCT6B     11115.p1chr17:
33266705-33266705
GAexonicMosaicsynonymous SNVNM_001193529
NM_001193530
NM_006584
c.C885T
c.C861T
c.C996T
p.A295A
p.A287A
p.A332A
-1.666E-5Dou2017 E
BCO1     12103.p1chr16:
81295822-81295822
CTexonicMosaicsynonymous SNVNM_017429c.C405Tp.F135F--Dou2017 E
POLA2     14101.p1chr11:
65048595-65048595
GAexonicMosaicnonsynonymous SNVNM_002689c.G877Ap.E293K22.0-Dou2017 E
FOXK2     14338.p1chr17:
80559225-80559225
GAexonicMosaicsynonymous SNVNM_004514c.G1833Ap.S611S0.4682.0E-4Dou2017 E
MIER2     14604.p1chr19:
326548-326548
CTexonicMosaicnonsynonymous SNVNM_017550c.G544Ap.D182N21.3-Dou2017 E
ANO8     11470.p1chr19:
17441782-17441782
GAexonicMosaicnonsynonymous SNVNM_020959c.C848Tp.S283F15.47-Dou2017 E
FZR1     11808.p1chr19:
3527699-3527699
GAexonicMosaicnonsynonymous SNVNM_001136198
NM_016263
c.G541A
c.G541A
p.A181T
p.A181T
29.4-Dou2017 E
ZNF260     13443.p1chr19:
37005943-37005943
TGexonicMosaicsynonymous SNVNM_001166037
NM_001166038
NM_001012756
NM_001166036
c.A198C
c.A198C
c.A198C
c.A198C
p.R66R
p.R66R
p.R66R
p.R66R
--Dou2017 E
WDR87     14256.p1chr19:
38379997-38379997
TCexonicMosaicsynonymous SNVNM_001291088
NM_031951
c.A4314G
c.A4197G
p.S1438S
p.S1399S
--Dou2017 E
COX4I1     12653.p1chr16:
85839498-85839498
CTintronicMosaic-6.602E-5Dou2017 E
STARD10     14613.p1chr11:
72468902-72468902
GAexonicMosaicstopgainNM_006645c.C487Tp.R163X39.08.3E-6Dou2017 E
MYH14     13720.p1chr19:
50783305-50783305
GTexonicMosaicnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G3921T
c.G3945T
c.G4044T
p.E1307D
p.E1315D
p.E1348D
3.401-Dou2017 E
OVOL2     13629.p1chr20:
18005484-18005484
CAexonicMosaicnonsynonymous SNVNM_001303462
NM_001303461
NM_021220
c.G228T
c.G228T
c.G624T
p.Q76H
p.Q76H
p.Q208H
18.79-Dou2017 E
NCOA6     12286.p1chr20:
33330216-33330216
CTexonicMosaicnonsynonymous SNVNM_014071c.G3844Ap.A1282T25.3-Dou2017 E
FAT3     11202.p1chr11:
92533228-92533228
GAexonicMosaicnonsynonymous SNVNM_001008781c.G7049Ap.R2350Q16.66-Dou2017 E
LSS     12832.p1chr21:
47628169-47628169
CTexonicMosaicnonsynonymous SNVNM_001145437
NM_001001438
NM_001145436
NM_002340
c.G1073A
c.G1313A
c.G1280A
c.G1313A
p.R358H
p.R438H
p.R427H
p.R438H
15.664.757E-5Dou2017 E
MYH9     13777.p1chr22:
36716407-36716407
GAexonicMosaicsynonymous SNVNM_002473c.C870Tp.T290T-1.0E-4Dou2017 E
AMOTL1     14484.p1chr11:
94603879-94603879
GAexonicMosaicsynonymous SNVNM_001301007
NM_130847
c.G2640A
c.G2790A
p.S880S
p.S930S
-3.571E-5Dou2017 E
DMD     13062.p1chrX:
32383221-32383221
CTexonicMosaicsynonymous SNVNM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010
c.G918A
c.G909A
c.G4917A
c.G4941A
c.G4929A
c.G4572A
p.T306T
p.T303T
p.T1639T
p.T1647T
p.T1643T
p.T1524T
-3.427E-5Dou2017 E
PLD5     12055.p1chr1:
242383342-242383342
TCexonicMosaicnonsynonymous SNVNM_001195812
NM_001195811
NM_152666
c.A59G
c.A497G
c.A683G
p.K20R
p.K166R
p.K228R
11.14-Dou2017 E
PIK3R2       12252.p1chr19:
18273859-18273859
GAexonicMosaicnonsynonymous SNVNM_005027c.G1192Ap.V398I17.914.132E-5Dou2017 E
MPO     12360.p1chr17:
56356401-56356401
ACexonicMosaicnonsynonymous SNVNM_000250c.T853Gp.C285G25.2-Dou2017 E
PPP1R35     14043.p1chr7:
100033271-100033271
GCexonicMosaicnonsynonymous SNVNM_145030c.C571Gp.R191G16.22-Dou2017 E
MFRP     11239.p1chr11:
119216209-119216209
CTexonicMosaicnonsynonymous SNVNM_031433c.G562Ap.A188T6.296-Dou2017 E
G3BP2     12523.p1chr4:
76580350-76580350
AGexonicMosaicnonsynonymous SNVNM_012297
NM_203504
NM_203505
c.T626C
c.T626C
c.T626C
p.L209P
p.L209P
p.L209P
10.36-Dou2017 E
SNX5     12563.p1chr20:
17928186-17928186
GAexonicMosaicnonsynonymous SNVNM_001282454
NM_014426
NM_152227
c.C707T
c.C1022T
c.C1022T
p.A236V
p.A341V
p.A341V
14.59-Dou2017 E
RHNO1     14545.p1chr12:
2997411-2997411
AGexonicMosaicnonsynonymous SNVNM_001252499
NM_001252500
NM_001257097
NM_001257098
c.A503G
c.A461G
c.A503G
c.A503G
p.E168G
p.E154G
p.E168G
p.E168G
1.233-Dou2017 E
CLEC7A     14646.p1chr12:
10280034-10280034
GAexonicMosaicsynonymous SNVNM_197954c.C210Tp.F70F--Dou2017 E
KLRD1     13251.p1chr12:
10460656-10460656
GAUTR5Mosaic-1.0E-4Dou2017 E
DDB1     12642.p1chr11:
61067685-61067685
CTexonicMosaic Mat.nonsynonymous SNVNM_001923c.G3346Ap.D1116N19.15-Dou2017 E
PAOX     12645.p1chr10:
135203136-135203136
GAexonicMosaicnonsynonymous SNVNM_152911c.G1277Ap.R426H15.681.679E-5Dou2017 E
CDC34     12652.p1chr19:
536266-536266
CTexonicMosaicsynonymous SNVNM_004359c.C288Tp.I96I-4.061E-5Dou2017 E
PLEKHA6     14292.p1chr1:
204218371-204218371
CTexonicMosaicnonsynonymous SNVNM_014935c.G1615Ap.E539K33.0-Dou2017 E
SLCO1A2     14217.p1chr12:
21450319-21450319
CGintronicMosaic--Dou2017 E
ARID2     12910.p1chr12:
46230691-46230691
CTexonicMosaicnonsynonymous SNVNM_152641c.C940Tp.R314C27.1-Dou2017 E
RANBP3     12727.p1chr19:
5957913-5957913
CTintronicMosaic-5.798E-5Dou2017 E
KMT2D     11776.p1chr12:
49415648-49415648
TCexonicMosaicnonsynonymous SNVNM_003482c.A16529Gp.Y5510C8.661-Dou2017 E
SLC47A2     12784.p1chr17:
19584847-19584847
AGintronicMosaic--Dou2017 E
ENPP2     12799.p1chr8:
120580466-120580466
AGexonicMosaicnonsynonymous SNVNM_001040092
NM_001130863
NM_006209
c.T2080C
c.T2155C
c.T2236C
p.Y694H
p.Y719H
p.Y746H
22.6-Dou2017 E
GNS     14233.p1chr12:
65137026-65137026
GAexonicMosaicsynonymous SNVNM_002076c.C687Tp.I229I8.0138.239E-6Dou2017 E
MDM1     13365.p1chr12:
68696451-68696451
GTexonicMosaicnonsynonymous SNVNM_001205028
NM_017440
c.C1816A
c.C1921A
p.P606T
p.P641T
15.67-Dou2017 E
AP2M1     14276.p1chr3:
183899699-183899699
GCsplicingMosaic Mat.splicing15.38-Dou2017 E
E2F7     11417.p1chr12:
77440061-77440061
GAexonicMosaicsynonymous SNVNM_203394c.C586Tp.L196L--Dou2017 E
DCAF5     12858.p1chr14:
69589039-69589039
GTexonicMosaicnonsynonymous SNVNM_001284206
NM_001284207
NM_001284208
NM_003861
c.C253A
c.C7A
c.C253A
c.C253A
p.Q85K
p.Q3K
p.Q85K
p.Q85K
13.34-Dou2017 E
PLEKHA4     12865.p1chr19:
49341342-49341342
CTexonicMosaicnonsynonymous SNVNM_020904c.G2009Ap.R670Q15.94-Dou2017 E
PCDHA11     13154.p1chr5:
140250174-140250174
CTexonicMosaicnonsynonymous SNVNM_018902
NM_031861
c.C1486T
c.C1486T
p.R496W
p.R496W
16.52-Dou2017 E
PPP1R15A     12867.p1chr19:
49376940-49376940
ACexonicMosaicsynonymous SNVNM_014330c.A450Cp.T150T--Dou2017 E
KCNC1     12975.p1chr11:
17793530-17793530
GAexonicMosaicnonsynonymous SNVNM_001112741
NM_004976
c.G889A
c.G889A
p.G297S
p.G297S
17.681.648E-5Dou2017 E
EP400     13907.p1chr12:
132514357-132514357
GAexonicMosaicsynonymous SNVNM_015409c.G5493Ap.E1831E-1.666E-5Dou2017 E
ELP1     13007.p1chr9:
111637184-111637184
GAexonicMosaicnonsynonymous SNVNM_003640c.C3922Tp.P1308S12.59-Dou2017 E
DPP9-AS1   13010.p1chr19:
4685800-4685800
GAUTR3Mosaic-9.067E-6Dou2017 E
SOHLH2     14405.p1chr13:
36764150-36764150
ACexonicMosaicnonsynonymous SNVNM_001282147
NM_017826
NM_001198910
c.T574G
c.T574G
c.T805G
p.S192A
p.S192A
p.S269A
3.287-Dou2017 E
IFIH1     13015.p1chr2:
163174408-163174408
TGexonicMosaicnonsynonymous SNVNM_022168c.A410Cp.K137T12.72-Dou2017 E
INTS6     14687.p1chr13:
51948834-51948834
GAexonicMosaicstopgainNM_012141
NM_001039937
NM_001306091
c.C1828T
c.C1789T
c.C1294T
p.R610X
p.R597X
p.R432X
50.0-Dou2017 E
INTS6     14265.p1chr13:
52004449-52004449
GAexonicMosaicnonsynonymous SNVNM_012141
NM_001039937
c.C410T
c.C371T
p.T137I
p.T124I
13.98-Dou2017 E
GPC5     11042.p1chr13:
92345513-92345513
TCexonicMosaicnonsynonymous SNVNM_004466c.T398Cp.M133T18.43-Dou2017 E
NALCN     11000.p1chr13:
101890181-101890181
GAexonicMosaicsynonymous SNVNM_052867c.C1359Tp.F453F-8.242E-6Dou2017 E
ABCA9     13152.p1chr17:
67045420-67045420
AGintronicMosaic--Dou2017 E
HIVEP3     11010.p1chr1:
42046980-42046980
GAexonicMosaicsynonymous SNVNM_001127714
NM_024503
c.C3489T
c.C3489T
p.F1163F
p.F1163F
--Dou2017 E
FUT8     11008.p1chr14:
66096265-66096265
CTexonicMosaicnonsynonymous SNVNM_004480
NM_178156
NM_178155
c.C49T
c.C538T
c.C538T
p.R17W
p.R180W
p.R180W
18.98.24E-6Dou2017 E
TINAG     11012.p1chr6:
54191686-54191686
CTexonicMosaicnonsynonymous SNVNM_014464c.C596Tp.P199L17.460.0984Dou2017 E
OTOGL     11011.p1chr12:
80752165-80752165
GAintronicMosaic--Dou2017 E
AKR1E2     11005.p1chr10:
4875541-4875541
GCsplicingMosaicsplicing15.55-Dou2017 E
PHTF2     11003.p1chr7:
77572116-77572116
GAintronicMosaic--Dou2017 E
CPSF7     11039.p1chr11:
61187420-61187420
CTsplicing;exonicMosaicnonsynonymous SNVNM_001136040
NM_024811
c.G524A
c.G653A
p.R175H
p.R218H
18.0-Dou2017 E
11033.p1chr4:
49352-49352
GAintergenicMosaic--Dou2017 E
CNOT6     13183.p1chr5:
179994868-179994868
CTexonicMosaicnonsynonymous SNVNM_001303241c.C892Tp.H298Y25.5-Dou2017 E
METRNL     11042.p1chr17:
81050796-81050796
CTintronicMosaic--Dou2017 E
EGLN1     11042.p1chr1:
231506328-231506328
TCexonicMosaicsynonymous SNVNM_022051c.A1128Gp.V376V--Dou2017 E
FRMD4A     11023.p1chr10:
13699273-13699273
GAexonicMosaicsynonymous SNVNM_018027c.C2316Tp.A772A-1.502E-5Dou2017 E
PGRMC1     11021.p1chrX:
118374279-118374279
GAexonicMosaicsynonymous SNVNM_006667c.G336Ap.P112P-2.0E-4Dou2017 E
PDE4DIP     11031.p1chr1:
145075903-145075903
CTUTR5Mosaic-0.374Dou2017 E
TXNDC2     11027.p1chr18:
9886136-9886136
CTUTR5Mosaic-5.655E-5Dou2017 E
GAST     11078.p1chr17:
39871841-39871841
CGexonicMosaicsynonymous SNVNM_000805c.C153Gp.G51G--Dou2017 E
RAD21L1     13125.p1chr20:
1210539-1210539
CTexonicMosaicstopgainNM_001136566c.C160Tp.R54X35.0-Dou2017 E
KLHDC7A     11069.p1chr1:
18839782-18839782
CTintergenicMosaic--Dou2017 E
EHMT1     11104.p1chr9:
140652286-140652286
GAintronicMosaic--Dou2017 E
PITX2     11078.p1chr4:
112998949-112998949
CAintergenicMosaic--Dou2017 E
ABCA1     11044.p1chr9:
107579670-107579670
GAexonicMosaicstopgainNM_005502c.C3478Tp.Q1160X46.0-Dou2017 E
UTP20     11044.p1chr12:
101763666-101763666
CTexonicMosaicsynonymous SNVNM_014503c.C6552Tp.F2184F--Dou2017 E
LINC00969   11046.p1chr3:
195425993-195425993
CGncRNA_intronicMosaic--Dou2017 E
GRIP1     11045.p1chr12:
66747209-66747209
GTexonicMosaicnonsynonymous SNVNM_001178074
NM_021150
c.C2946A
c.C2991A
p.D982E
p.D997E
19.09-Dou2017 E
TSPAN7     11122.p1chrX:
38546982-38546982
CTintronicMosaic--Dou2017 E
TOP3B     12323.p1chr22:
22312975-22312975
AGexonicMosaicnonsynonymous SNVNM_001282112
NM_001282113
NM_003935
c.T1996C
c.T1996C
c.T1996C
p.C666R
p.C666R
p.C666R
27.6-Dou2017 E
RAPGEF3     11122.p1chr12:
48132615-48132615
GAintronicMosaic--Dou2017 E
CCDC198     12347.p1chr14:
57960353-57960353
CTexonicMosaicsynonymous SNVNM_001283056
NM_001283057
NM_018168
c.G81A
c.G81A
c.G81A
p.S27S
p.S27S
p.S27S
-1.0E-4Dou2017 E
GHRLOS     11124.p1chr3:
10327453-10327453
CTncRNA_exonicMosaic--Dou2017 E
KNTC1     11124.p1chr12:
123065120-123065120
CTintronicMosaic--Dou2017 E
RNF19B     11108.p1chr1:
33413988-33413988
GTintronicMosaic--Dou2017 E
BCAN     11108.p1chr1:
156618411-156618411
GTexonicMosaicnonsynonymous SNVNM_021948
NM_198427
c.G821T
c.G821T
p.R274L
p.R274L
9.289-Dou2017 E
AGR3     11121.p1chr7:
16904204-16904204
TAintronicMosaic--Dou2017 E
SOS2     11108.p1chr14:
50628192-50628192
GTintronicMosaic--Dou2017 E
ZNF385D     11193.p1chr3:
21806293-21806293
CTintergenicMosaic--Dou2017 E
BCKDK     11189.p1chr16:
31121669-31121669
GAintronicMosaic-8.268E-6Dou2017 E
TARS2     11196.p1chr1:
150463857-150463857
CAintronicMosaic--Dou2017 E
IMPDH1     11194.p1chr7:
128040992-128040992
CTintronicMosaic--Dou2017 E
EML2     11143.p1chr19:
46137538-46137538
CAintronicMosaic--Dou2017 E
PIH1D3     11135.p1chrX:
106595169-106595169
CAintergenicMosaic--Dou2017 E
ZBTB24     11184.p1chr6:
109803172-109803172
TCexonicMosaicnonsynonymous SNVNM_001164313
NM_014797
c.A58G
c.A58G
p.S20G
p.S20G
16.39-Dou2017 E
COTL1     11176.p1chr16:
84651172-84651172
TGexonicMosaicnonsynonymous SNVNM_021149c.A95Cp.D32A17.80.0018Dou2017 E
LAMA1     11225.p1chr18:
6977778-6977778
TAexonicMosaicnonsynonymous SNVNM_005559c.A6293Tp.N2098I22.6-Dou2017 E
DHX29     11218.p1chr5:
54569062-54569062
CTintronicMosaic--Dou2017 E
ALKBH6     11250.p1chr19:
36505106-36505106
AGexonicMosaicsynonymous SNVNM_032878
NM_198867
c.T30C
c.T30C
p.N10N
p.N10N
--Dou2017 E
WDR92     11225.p1chr2:
68364514-68364514
CAexonicMosaicnonsynonymous SNVNM_001256476
NM_138458
c.G685T
c.G685T
p.A229S
p.A229S
24.9-Dou2017 E
SCAMP2     11198.p1chr15:
75142926-75142926
GTexonicMosaicsynonymous SNVNM_005697c.C561Ap.S187S--Dou2017 E
CTPS1     11198.p1chr1:
41450632-41450632
GTexonicMosaicsynonymous SNVNM_001905c.G306Tp.R102R--Dou2017 E
USP19     11215.p1chr3:
49151403-49151403
GAintronicMosaic--Dou2017 E
TRUB1     11205.p1chr10:
116698044-116698044
CAexonicMosaicstopgainNM_139169c.C32Ap.S11X26.0-Dou2017 E
CD82     11336.p1chr11:
44640274-44640274
GTsplicingMosaicsplicing9.902-Dou2017 E
KAT6B     11334.p1chr10:
76789588-76789588
AGexonicMosaicnonsynonymous SNVNM_001256468
NM_001256469
NM_012330
c.A4457G
c.A4130G
c.A5006G
p.D1486G
p.D1377G
p.D1669G
14.52-Dou2017 E
TTN     13398.p1chr2:
179592329-179592329
GAexonicMosaicnonsynonymous SNVNM_133378
NM_001256850
NM_001267550
c.C16244T
c.C19025T
c.C19976T
p.T5415M
p.T6342M
p.T6659M
12.50.0039Dou2017 E
ARMC4     11346.p1chr10:
28233146-28233146
CAintronicMosaic-0.0011Dou2017 E
PPEF2     11336.p1chr4:
76812814-76812814
GTexonicMosaicnonsynonymous SNVNM_006239c.C228Ap.S76R10.54-Dou2017 E
ADAMTS17     11263.p1chr15:
100649236-100649236
GAexonicMosaicsynonymous SNVNM_139057c.C1974Tp.C658C-8.266E-6Dou2017 E
FAM173B     11257.p1chr5:
10239310-10239310
CTexonicMosaicnonsynonymous SNVNM_001258388
NM_001258389
NM_199133
c.G175A
c.G175A
c.G175A
p.V59I
p.V59I
p.V59I
1.493-Dou2017 E
CCT5     11330.p1chr5:
10261729-10261729
GAexonicMosaicnonsynonymous SNVNM_001306154
NM_001306155
NM_001306153
NM_001306156
NM_012073
c.G886A
c.G772A
c.G988A
c.G937A
c.G1051A
p.E296K
p.E258K
p.E330K
p.E313K
p.E351K
27.03.295E-5Dou2017 E
FSTL1     11274.p1chr3:
120122083-120122083
GAintronicMosaic--Dou2017 E
TFCP2L1     11393.p1chr2:
121981826-121981826
GAUTR3Mosaic--Dou2017 E
HELB     11382.p1chr12:
66715718-66715718
GTintronicMosaic--Dou2017 E
PATJ     11402.p1chr1:
62374072-62374072
CTexonicMosaicnonsynonymous SNVNM_176877c.C3410Tp.S1137L19.79-Dou2017 E
LOC101927550    11394.p1chr7:
98630652-98630652
GAncRNA_exonicMosaic--Dou2017 E
TOPBP1     11367.p1chr3:
133335711-133335711
GAexonicMosaicnonsynonymous SNVNM_007027c.C3818Tp.S1273L34.0-Dou2017 E
ANXA3     11354.p1chr4:
79516987-79516987
GAexonicMosaicnonsynonymous SNVNM_005139c.G580Ap.E194K34.03.0E-4Dou2017 E
CRBN     11372.p1chr3:
3238307-3238307
CAintergenicMosaic--Dou2017 E
HSPBAP1     11368.p1chr3:
122487519-122487519
CGintronicMosaic--Dou2017 E
PRKDC     11420.p1chr8:
48730085-48730085
CTexonicMosaicunknown--Dou2017 E
VRK1     14619.p1chr14:
97322943-97322943
GTintronicMosaic--Dou2017 E
METTL21C     11417.p1chr13:
103343224-103343224
GAexonicMosaicnonsynonymous SNVNM_001010977c.C221Tp.A74V15.07-Dou2017 E
NFIX     11434.p1chr19:
13186418-13186418
CTexonicMosaicsynonymous SNVNM_001271043
NM_001271044
NM_002501
c.C912T
c.C864T
c.C888T
p.P304P
p.P288P
p.P296P
-8.628E-6Dou2017 E
QSER1     11432.p1chr11:
32953753-32953753
GTexonicMosaicnonsynonymous SNVNM_001076786c.G562Tp.V188F19.73-Dou2017 E
SLC2A7     11409.p1chr1:
9083101-9083101
GAexonicMosaicstopgainNM_207420c.C187Tp.R63X33.08.244E-6Dou2017 E
RNF208     11404.p1chr9:
140114855-140114855
GAUTR3Mosaic--Dou2017 E
SREBF2     11415.p1chr22:
42294664-42294664
AGexonicMosaicnonsynonymous SNVNM_004599c.A2617Gp.I873V1.8989.104E-5Dou2017 E
ARHGEF33     11411.p1chr2:
39185135-39185135
CTintronicMosaic--Dou2017 E
ZNF521     11479.p1chr18:
23383992-23383992
ATintergenicMosaic--Dou2017 E
NES     11476.p1chr1:
156639047-156639047
CTUTR3Mosaic--Dou2017 E
MYO16     11493.p1chr13:
109817311-109817311
GAexonicMosaicnonsynonymous SNVNM_001198950
NM_015011
c.G5227A
c.G5161A
p.E1743K
p.E1721K
18.661.676E-5Dou2017 E
TTN     11488.p1chr2:
179396737-179396737
CTexonicMosaicnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G77410A
c.G77785A
c.G77986A
c.G96901A
c.G99682A
c.G104605A
p.E25804K
p.E25929K
p.E25996K
p.E32301K
p.E33228K
p.E34869K
14.798.349E-6Dou2017 E
GOLGA1     11437.p1chr9:
127700998-127700998
GTUTR5Mosaic--Dou2017 E
FAM171B     11437.p1chr2:
187626960-187626960
GTexonicMosaicnonsynonymous SNVNM_177454c.G1891Tp.V631F19.74-Dou2017 E
SORBS2     11475.p1chr4:
186539779-186539779
GTexonicMosaicnonsynonymous SNVNM_001145674
NM_001145675
NM_001145670
NM_001145672
NM_021069
NM_001145671
NM_001145673
NM_003603
NM_001270771
c.C2311A
c.C775A
c.C1231A
c.C1282A
c.C2599A
c.C1492A
c.C1771A
c.C1297A
c.C2899A
p.P771T
p.P259T
p.P411T
p.P428T
p.P867T
p.P498T
p.P591T
p.P433T
p.P967T
21.8-Dou2017 E
OR4E2     11474.p1chr14:
22133410-22133410
GAexonicMosaicsynonymous SNVNM_001001912c.G114Ap.T38T-2.0E-4Dou2017 E
PLCD3     11558.p1chr17:
43194090-43194090
GAexonicMosaicunknown4.188-Dou2017 E
SERPINF2     11551.p1chr17:
1652003-1652003
GAexonicMosaicnonsynonymous SNVNM_001165921
NM_000934
NM_001165920
c.G635A
c.G827A
c.G827A
p.R212H
p.R276H
p.R276H
12.888.258E-6Dou2017 E
AQP1     11566.p1chr7:
30951630-30951630
AGexonicMosaicnonsynonymous SNVNM_198098c.A106Gp.K36E8.881-Dou2017 E
FAM193A     11561.p1chr4:
2661708-2661708
GAexonicMosaicnonsynonymous SNVNM_001256666
NM_001256668
NM_003704
NM_001256667
c.G799A
c.G799A
c.G799A
c.G871A
p.G267S
p.G267S
p.G267S
p.G291S
14.338.245E-6Dou2017 E
DMKN     11533.p1chr19:
35992689-35992689
CTintronicMosaic-0.0014Dou2017 E
RBM5     11521.p1chr3:
50154707-50154707
TCexonicMosaicsynonymous SNVNM_005778c.T2217Cp.D739D--Dou2017 E
ZMYND11     13513.p1chr10:
293337-293337
GAsplicingMosaicsplicing26.9-Dou2017 E
CTSC     11547.p1chr11:
88070626-88070626
GAintronicMosaic--Dou2017 E
GRIN2B     11540.p1chr12:
13848538-13848538
CTintronicMosaic--Dou2017 E
SIRT1     13932.p1chr10:
69672259-69672259
AGexonicMosaicnonsynonymous SNVNM_001314049
NM_001142498
NM_012238
c.A477G
c.A501G
c.A1386G
p.I159M
p.I167M
p.I462M
17.33-Dou2017 E
ANKRD22     11592.p1chr10:
90585819-90585819
GAexonicMosaicsynonymous SNVNM_144590c.C375Tp.G125G-0.3867Dou2017 E
SRRT     11579.p1chr7:
100479677-100479677
GAexonicMosaicsynonymous SNVNM_001128852
NM_001128853
NM_001128854
NM_015908
c.G402A
c.G402A
c.G402A
c.G402A
p.L134L
p.L134L
p.L134L
p.L134L
--Dou2017 E
KIF13A     11592.p1chr6:
17773790-17773790
TCexonicMosaicnonsynonymous SNVNM_001105567
NM_001105568
NM_001105566
NM_022113
c.A4204G
c.A4204G
c.A4243G
c.A4243G
p.M1402V
p.M1402V
p.M1415V
p.M1415V
2.4580.0221Dou2017 E
NUP155     11592.p1chr5:
37331869-37331869
GAexonicMosaicnonsynonymous SNVNM_001278312
NM_004298
NM_153485
c.C1547T
c.C1370T
c.C1547T
p.P516L
p.P457L
p.P516L
28.23.306E-5Dou2017 E
GMPPA     11573.p1chr2:
220367114-220367114
CTexonicMosaicnonsynonymous SNVNM_013335
NM_205847
c.C440T
c.C440T
p.T147M
p.T147M
16.761.66E-5Dou2017 E
HACE1     11597.p1chr6:
105297143-105297143
GAintronicMosaic--Dou2017 E
PEF1     11572.p1chr1:
32098127-32098127
CTexonicMosaicsynonymous SNVNM_012392c.G594Ap.S198S--Dou2017 E
IL17RC     11578.p1chr3:
9971538-9971538
GAexonicMosaicsynonymous SNVNM_001203265
NM_001203264
NM_032732
NM_001203263
NM_153460
NM_153461
c.G1017A
c.G1062A
c.G1068A
c.G1113A
c.G1113A
c.G1326A
p.V339V
p.V354V
p.V356V
p.V371V
p.V371V
p.V442V
--Dou2017 E
NUP58     11578.p1chr13:
25912885-25912885
CAintronicMosaic