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Exact

Results for "Ji2016"

Variant Events: 2056

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
CACNA2D1     13769.p1chr7:
81662204-81662204
CGexonicDe novononsynonymous SNVNM_000722c.G1052Cp.R351T26.8-Ji2016 E
RUNDC3B     14667.p1chr7:
87339897-87339897
GAexonicDe novostopgainNM_001134405
NM_001134406
NM_138290
c.G384A
c.G384A
c.G435A
p.W128X
p.W128X
p.W145X
41.0-Ji2016 E
ZNF804B     14394.p1chr7:
88389394-88389394
CTexonicDe novononsynonymous SNVNM_181646c.C104Tp.S35F19.94-Ji2016 E
AKAP9     11497.p1chr7:
91671478-91671478
GAexonicDe novononsynonymous SNVNM_005751
NM_147185
c.G5036A
c.G5036A
p.R1679H
p.R1679H
14.492.477E-5Ji2016 E
AKAP9     14474.p1chr7:
91726153-91726153
CTexonicDe novostopgainNM_005751
NM_147185
c.C9880T
c.C9856T
p.R3294X
p.R3286X
52.01.648E-5Ji2016 E
PPP1R9A     13037.p1chr7:
94539985-94539985
CTexonicDe novononsynonymous 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-Ji2016 E
TRRAP     11828.p1chr7:
98506430-98506430
GAexonicDe novononsynonymous SNVNM_001244580
NM_003496
c.G1195A
c.G1195A
p.V399I
p.V399I
23.43.37E-5Ji2016 E
TRRAP     12320.p1chr7:
98550922-98550922
CTexonicDe novononsynonymous SNVNM_003496
NM_001244580
c.C5521T
c.C5575T
p.R1841C
p.R1859C
23.2-Ji2016 E
POC1B     14444.p1chr12:
89918931-89918931
GAexonicDe novononsynonymous SNVNM_001199782c.C326Tp.P109L16.54-Ji2016 E
TRRAP     14463.p1chr7:
98609859-98609859
CTexonicDe novononsynonymous SNVNM_003496
NM_001244580
c.C11374T
c.C11461T
p.R3792C
p.R3821C
33.0-Ji2016 E
DHCR24     12198.p1chr1:
55337173-55337173
GCexonicDe novononsynonymous SNVNM_014762c.C726Gp.F242L12.88-Ji2016 E
TAF6     13560.p1chr7:
99711308-99711308
TCexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.A439G
c.A328G
c.A328G
p.K147E
p.K110E
p.K110E
15.058.241E-6Ji2016 E
TAF6     13732.p1chr7:
99711522-99711522
AGexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.T323C
c.T212C
c.T212C
p.I108T
p.I71T
p.I71T
20.53.295E-5Ji2016 E
STAG3     14405.p1chr7:
99802722-99802722
TCexonicDe novononsynonymous SNVNM_001282718
NM_001282716
NM_001282717
NM_012447
c.T2872C
c.T3046C
c.T3046C
c.T3046C
p.S958P
p.S1016P
p.S1016P
p.S1016P
19.971.648E-5Ji2016 E
LRCH4     11502.p1chr7:
100183600-100183600
CTexonicDe novononsynonymous SNVNM_001289934
NM_002319
c.G124A
c.G124A
p.V42M
p.V42M
22.5-Ji2016 E
GIGYF1     14530.p1chr7:
100282217-100282217
CCCATCTexonicDe novoframeshift insertionNM_022574c.1484_1485insAGATGp.M495fs--Ji2016 E
GIGYF1     11232.p1chr7:
100283002-100283019
TCCCCATCCCCGTTTGTCTexonicDe novoframeshift deletionNM_022574c.1140_1156delp.G380fs--Ji2016 E
ACHE     14085.p1chr7:
100488870-100488870
GAexonicDe novononsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831
c.C1643T
c.C1379T
c.C1643T
c.C1643T
c.C1643T
p.P548L
p.P460L
p.P548L
p.P548L
p.P548L
21.0-Ji2016 E
ACHE     14533.p1chr7:
100491403-100491403
CTexonicDe novononsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831
c.G451A
c.G451A
c.G451A
c.G451A
c.G451A
p.G151R
p.G151R
p.G151R
p.G151R
p.G151R
27.7-Ji2016 E
SLC26A5     11336.p1chr7:
103014942-103014942
GCexonicDe novononsynonymous SNVNM_001167962
NM_198999
c.C2043G
c.C2139G
p.S681R
p.S713R
11.38-Ji2016 E
LHFPL3     13426.p1chr7:
104377229-104377229
TAexonicDe novononsynonymous SNVNM_199000c.T553Ap.S185T15.78-Ji2016 E
PUS7     13641.p1chr7:
105108895-105108895
GAexonicDe novononsynonymous SNVNM_019042c.C1414Tp.R472C21.2-Ji2016 E
LAMB1     13991.p1chr7:
107566657-107566657
CTexonicDe novononsynonymous SNVNM_002291c.G5035Ap.V1679M14.78-Ji2016 E
LAMB1     12657.p1chr7:
107642100-107642100
GTexonicDe novononsynonymous SNVNM_002291c.C116Ap.T39K34.0-Ji2016 E
THAP5     13647.p1chr7:
108204755-108204757
TAGTexonicDe novoframeshift deletionNM_001287601
NM_001130475
NM_001287598
NM_001287599
NM_182529
c.580_581del
c.1066_1067del
c.580_581del
c.580_581del
c.940_941del
p.L194fs
p.L356fs
p.L194fs
p.L194fs
p.L314fs
-4.124E-5Ji2016 E
DNAJB9     12667.p1chr7:
108213622-108213622
TGexonicDe novononsynonymous SNVNM_012328c.T497Gp.F166C18.46-Ji2016 E
DOCK4     11099.p1chr7:
111398732-111398732
CTexonicDe novononsynonymous SNVNM_014705c.G4250Ap.R1417H17.14.186E-5Ji2016 E
SCN2A     14525.p1chr2:
166152367-166152367
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G34A
c.G34A
c.G34A
p.D12N
p.D12N
p.D12N
13.34-Ji2016 E
AASS     12793.p1chr7:
121766464-121766464
CAexonicDe novononsynonymous SNVNM_005763c.G437Tp.R146L33.0-Ji2016 E
TNPO3     11169.p1chr7:
128622321-128622321
GAexonicDe novononsynonymous SNVNM_001191028
NM_012470
c.C1648T
c.C1840T
p.R550C
p.R614C
20.38.248E-6Ji2016 E
STRIP2     14652.p1chr7:
129094327-129094327
GAexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.G665A
c.G665A
p.C222Y
p.C222Y
14.67-Ji2016 E
KLHDC10     11838.p1chr7:
129767258-129767258
CTexonicDe novostopgainNM_014997c.C946Tp.R316X37.0-Ji2016 E
AKR1B15     11061.p1chr7:
134253051-134253051
CTexonicDe novononsynonymous SNVNM_001080538c.C292Tp.R98W12.911.0E-4Ji2016 E
CNOT4     13415.p1chr7:
135122938-135122938
CTexonicDe novononsynonymous SNVNM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
21.4-Ji2016 E
AKR1D1     12901.p1chr7:
137776536-137776536
CTexonicDe novononsynonymous SNVNM_001190906
NM_001190907
NM_005989
c.C284T
c.C284T
c.C284T
p.P95L
p.P95L
p.P95L
17.86-Ji2016 E
AGK     13843.p1chr7:
141321569-141321569
GAexonicDe novononsynonymous SNVNM_018238c.G556Ap.E186K20.4-Ji2016 E
TAS2R3     13922.p1chr7:
141464367-141464367
GAexonicDe novononsynonymous SNVNM_016943c.G409Ap.A137T16.06-Ji2016 E
TRPV5     12839.p1chr7:
142612052-142612052
TGexonicDe novononsynonymous SNVNM_019841c.A1451Cp.K484T26.0-Ji2016 E
OR6V1     13981.p1chr7:
142750270-142750270
TGexonicDe novononsynonymous SNVNM_001001667c.T833Gp.V278G15.67-Ji2016 E
ZYX     13686.p1chr7:
143079776-143079776
CGexonicDe novononsynonymous SNVNM_001010972
NM_003461
c.C499G
c.C499G
p.R167G
p.R167G
13.79-Ji2016 E
GALNTL5     13556.p1chr7:
151684364-151684364
CTexonicDe novononsynonymous SNVNM_145292c.C656Tp.S219L17.61-Ji2016 E
SCN2A     14280.p1chr2:
166201311-166201311
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C2809T
c.C2809T
c.C2809T
p.R937C
p.R937C
p.R937C
29.0-Ji2016 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-Ji2016 E
GALNTL6     12641.p1chr4:
173873251-173873251
CGexonicDe novononsynonymous SNVNM_001034845c.C1213Gp.P405A25.14.969E-5Ji2016 E
TPK1     13063.p1chr7:
144150703-144150703
CTexonicDe novononsynonymous SNVNM_001042482
NM_022445
c.G520A
c.G667A
p.G174R
p.G223R
29.75.769E-5Ji2016 E
PDIA4     14424.p1chr7:
148702452-148702452
GAexonicDe novononsynonymous SNVNM_004911c.C1303Tp.R435W19.11-Ji2016 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-Ji2016 E
ZNF786     13279.p1chr7:
148777718-148777718
AGexonicDe novononsynonymous SNVNM_152411c.T110Cp.V37A13.88-Ji2016 E
KRBA1     11773.p1chr7:
149420891-149420891
CGexonicDe novounknown13.1-Ji2016 E
AMIGO2     14017.p1chr12:
47472267-47472267
ACexonicDe novononsynonymous SNVNM_181847
NM_001143668
c.T519G
c.T519G
p.S173R
p.S173R
16.82-Ji2016 E
SSPO     14420.p1chr7:
149522912-149522912
CGexonicDe novononsynonymous SNVNM_198455c.C14131Gp.L4711V--Ji2016 E
GIMAP8     12740.p1chr7:
150174231-150174231
CTexonicDe novononsynonymous SNVNM_175571c.C1361Tp.T454I12.37-Ji2016 E
NOS3     12362.p1chr7:
150696412-150696412
CTexonicDe novononsynonymous SNVNM_001160109
NM_001160110
NM_001160111
NM_000603
c.C1091T
c.C1091T
c.C1091T
c.C1091T
p.T364M
p.T364M
p.T364M
p.T364M
12.78.696E-6Ji2016 E
SCN2A     13544.p1chr2:
166231378-166231378
TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.T4156C
c.T4156C
c.T4156C
p.C1386R
p.C1386R
p.C1386R
15.44-Ji2016 E
SCN2A     13642.p1chr2:
166234111-166234111
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C4259T
c.C4259T
c.C4259T
p.T1420M
p.T1420M
p.T1420M
28.0-Ji2016 E
OCIAD1     13829.p1chr4:
48852062-48852062
TGexonicDe novononsynonymous SNVNM_001079839
NM_001079840
NM_001079841
NM_001079842
NM_001168254
NM_017830
c.T340G
c.T340G
c.T340G
c.T340G
c.T355G
c.T340G
p.L114V
p.L114V
p.L114V
p.L114V
p.L119V
p.L114V
17.65-Ji2016 E
NUB1     13119.p1chr7:
151072959-151072959
GCexonicDe novononsynonymous SNVNM_001243351
NM_016118
c.G1493C
c.G1451C
p.W498S
p.W484S
10.66-Ji2016 E
KMT2C     11148.p1chr7:
151842339-151842339
GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5Ji2016 E
KMT2C     12742.p1chr7:
151845714-151845714
GAexonicDe novononsynonymous SNVNM_170606c.C13298Tp.A4433V20.1-Ji2016 E
KMT2C     11241.p1chr7:
151927315-151927315
GAexonicDe novononsynonymous SNVNM_170606c.C2861Tp.T954I15.7-Ji2016 E
MPEG1     13617.p1chr11:
58979891-58979891
CGexonicDe novononsynonymous SNVNM_001039396c.G448Cp.V150L18.07-Ji2016 E
DPP6     14523.p1chr7:
154561183-154561183
GAexonicDe novononsynonymous SNVNM_001290252
NM_001039350
NM_001936
NM_130797
c.G619A
c.G748A
c.G754A
c.G940A
p.A207T
p.A250T
p.A252T
p.A314T
22.23.314E-5Ji2016 E
UBE3C     11006.p1chr7:
157041114-157041114
CTexonicDe novononsynonymous SNVNM_014671c.C2534Tp.S845F21.28.237E-6Ji2016 E
DNAJB6     14217.p1chr7:
157177678-157177678
AGexonicDe novononsynonymous SNVNM_005494
NM_058246
c.A596G
c.A596G
p.N199S
p.N199S
14.93-Ji2016 E
DLGAP2     11520.p1chr8:
1626547-1626547
GCexonicDe novononsynonymous SNVNM_001277161
NM_004745
c.G2174C
c.G2216C
p.R725T
p.R739T
19.73-Ji2016 E
KNG1     13829.p1chr3:
186460067-186460067
AGexonicDe novononsynonymous SNVNM_001102416c.A1882Gp.T628A11.34-Ji2016 E
CSMD1     14695.p1chr8:
3046533-3046533
ATexonicDe novononsynonymous SNVNM_033225c.T5399Ap.V1800E16.27-Ji2016 E
CSMD1     14165.p1chr8:
3165969-3165969
GAexonicDe novononsynonymous SNVNM_033225c.C3688Tp.R1230C15.04-Ji2016 E
ANGPT2     14467.p1chr8:
6360752-6360752
TCexonicDe novononsynonymous SNVNM_001118888
NM_001118887
NM_001147
c.A1205G
c.A1358G
c.A1361G
p.N402S
p.N453S
p.N454S
29.5-Ji2016 E
TNKS     11569.p1chr8:
9567684-9567684
GCexonicDe novononsynonymous SNVNM_003747c.G1703Cp.R568T18.48-Ji2016 E
RP1L1     11475.p1chr8:
10468066-10468067
AGAexonicDe novoframeshift deletionNM_178857c.3541delCp.L1181fs--Ji2016 E
XKR6     11415.p1chr8:
10755512-10755512
GAexonicDe novostopgainNM_173683c.C1876Tp.R626X24.3-Ji2016 E
THEMIS     12153.p1chr6:
128151058-128151058
TCexonicDe novononsynonymous SNVNM_001010923
NM_001164685
NM_001164687
c.A272G
c.A272G
c.A167G
p.D91G
p.D91G
p.D56G
19.61-Ji2016 E
MTMR9     12534.p1chr8:
11172535-11172535
CAexonicDe novononsynonymous SNVNM_015458c.C1075Ap.R359S16.461.648E-5Ji2016 E
BLK     11845.p1chr8:
11415531-11415531
TCexonicDe novononsynonymous SNVNM_001715c.T1013Cp.I338T17.594.944E-5Ji2016 E
GATA4     14336.p1chr8:
11607635-11607635
GAexonicDe novononsynonymous SNVNM_001308093
NM_001308094
NM_002052
c.G802A
c.G181A
c.G799A
p.V268M
p.V61M
p.V267M
21.13.0E-4Ji2016 E
DLC1     11937.p1chr8:
13357486-13357486
TCexonicDe novononsynonymous SNVNM_024767
NM_182643
c.A95G
c.A95G
p.H32R
p.H32R
15.52-Ji2016 E
MTUS1     13624.p1chr8:
17504519-17504519
GAexonicDe novononsynonymous SNVNM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924
c.C1069T
c.C1312T
c.C1006T
c.C3409T
c.C3571T
p.R357W
p.R438W
p.R336W
p.R1137W
p.R1191W
27.18.29E-6Ji2016 E
MTUS1     11521.p1chr8:
17612610-17612610
GCexonicDe novostopgainNM_001001924
NM_001001925
c.C707G
c.C707G
p.S236X
p.S236X
37.0-Ji2016 E
PCM1     11111.p1chr8:
17823633-17823633
AGexonicDe novononsynonymous SNVNM_001315507
NM_001315508
NM_006197
c.A2981G
c.A2984G
c.A2981G
p.E994G
p.E995G
p.E994G
32.0-Ji2016 E
PSD3     11842.p1chr8:
18730164-18730165
TCTexonicDe novoframeshift deletionNM_015310c.209delGp.G70fs--Ji2016 E
INTS10     11941.p1chr8:
19701609-19701609
GAexonicDe novononsynonymous SNVNM_018142c.G1742Ap.R581K15.7-Ji2016 E
HCAR1     12483.p1chr12:
123214180-123214180
CTexonicDe novononsynonymous SNVNM_032554c.G707Ap.S236N19.74-Ji2016 E
BMP1     11989.p1chr8:
22067161-22067161
GAexonicDe novononsynonymous SNVNM_006129c.G2779Ap.G927S32.08.254E-6Ji2016 E
CCAR2     13300.p1chr8:
22463609-22463609
AGexonicDe novononsynonymous SNVNM_021174c.A70Gp.T24A14.844.943E-5Ji2016 E
SCAND1     11740.p1chr20:
34542214-34542214
GCexonicDe novononsynonymous SNVNM_033630c.C182Gp.A61G--Ji2016 E
DOCK5     14613.p1chr8:
25257429-25257429
TTTexonicDe novoframeshift insertionNM_024940c.4707dupTp.A1569fs--Ji2016 E
DPYSL2     11566.p1chr8:
26510772-26510772
CTexonicDe novononsynonymous SNVNM_001197293
NM_001244604
NM_001386
c.C1801T
c.C1378T
c.C1486T
p.R601C
p.R460C
p.R496C
23.38.261E-6Ji2016 E
KIF13B     11658.p1chr8:
29005051-29005051
GAexonicDe novononsynonymous SNVNM_015254c.C1882Tp.R628C19.91-Ji2016 E
IDO2     13204.p1chr8:
39872850-39872850
GAexonicDe novononsynonymous SNVNM_194294c.G992Ap.R331K10.72-Ji2016 E
KAT6A     12108.p1chr8:
41906209-41906213
TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766
c.283_286del
c.283_286del
p.Q95fs
p.Q95fs
--Ji2016 E
NCKAP5L     13290.p1chr12:
50188719-50188719
GAexonicDe novononsynonymous SNVNM_001037806c.C2924Tp.A975V21.4-Ji2016 E
IKBKB     14634.p1chr8:
42179637-42179637
GAexonicDe novononsynonymous SNVNM_001190720
NM_001242778
NM_001556
c.G1798A
c.G1627A
c.G1804A
p.E600K
p.E543K
p.E602K
36.0-Ji2016 E
PRKDC     12266.p1chr8:
48827944-48827944
CAexonicDe novounknown17.63-Ji2016 E
PRKDC     11839.p1chr8:
48849076-48849076
GAexonicDe novounknown20.24.15E-5Ji2016 E
PRKDC     13451.p1chr8:
48852146-48852146
AGexonicDe novounknown21.0-Ji2016 E
PXDNL     13867.p1chr8:
52232506-52232506
CTexonicDe novononsynonymous SNVNM_144651c.G4337Ap.C1446Y13.15-Ji2016 E
RAB2A     11077.p1chr8:
61484622-61484622
CTexonicDe novostopgainNM_001242644
NM_002865
c.C64T
c.C136T
p.R22X
p.R46X
28.2-Ji2016 E
CHD7     13733.p1chr8:
61735090-61735090
GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Ji2016 E
TRIM55     12587.p1chr8:
67040600-67040600
GAexonicDe novononsynonymous SNVNM_033058
NM_184085
NM_184086
NM_184087
c.G230A
c.G230A
c.G230A
c.G230A
p.R77H
p.R77H
p.R77H
p.R77H
29.92.0E-4Ji2016 E
EYA1     13881.p1chr8:
72246332-72246332
CGexonicDe novononsynonymous 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-Ji2016 E
HEY1     11250.p1chr8:
80677553-80677553
GAexonicDe novononsynonymous SNVNM_001282851
NM_001040708
NM_012258
c.C515T
c.C797T
c.C785T
p.S172L
p.S266L
p.S262L
17.27-Ji2016 E
FABP4     13763.p1chr8:
82392668-82392668
TCexonicDe novononsynonymous SNVNM_001442c.A239Gp.K80R21.1-Ji2016 E
CA3     11495.p1chr8:
86356323-86356323
GAexonicDe novononsynonymous SNVNM_005181c.G412Ap.D138N27.33.309E-5Ji2016 E
OFD1     13134.p1chrX:
13774696-13774696
GTsplicingDe novosplicing16.35-Ji2016 E
DCAF4L2     14563.p1chr8:
88885654-88885654
GCexonicDe novononsynonymous SNVNM_152418c.C546Gp.I182M12.45-Ji2016 E
RGS22     13593.p1chr8:
100990260-100990260
CAexonicDe novononsynonymous SNVNM_001286693
NM_001286692
NM_015668
c.G2861T
c.G3368T
c.G3404T
p.C954F
p.C1123F
p.C1135F
15.73-Ji2016 E
UBR5     14012.p1chr8:
103287806-103287806
TTTexonicDe novoframeshift insertionNM_001282873
NM_015902
c.6671dupA
c.6671dupA
p.K2224fs
p.K2224fs
--Ji2016 E
RIMS2     12086.p1chr8:
104778570-104778570
GAexonicDe novononsynonymous SNVNM_001100117c.G503Ap.R168Q14.18.285E-6Ji2016 E
ZNF462     13842.p1chr9:
109691619-109691619
CTexonicDe novononsynonymous SNVNM_021224c.C5426Tp.A1809V13.271.657E-5Ji2016 E
ZFPM2     14072.p1chr8:
106815698-106815698
ACexonicDe novononsynonymous SNVNM_012082c.A3388Cp.N1130H16.07-Ji2016 E
NUDCD1     13306.p1chr8:
110255473-110255473
GAexonicDe novononsynonymous SNVNM_001128211
NM_032869
c.C1430T
c.C1517T
p.S477L
p.S506L
34.02.475E-5Ji2016 E
EBAG9     11824.p1chr8:
110576670-110576670
ATexonicDe novononsynonymous SNVNM_001278938
NM_004215
NM_198120
c.A524T
c.A524T
c.A524T
p.Q175L
p.Q175L
p.Q175L
21.0-Ji2016 E
IPO4     12198.p1chr14:
24650802-24650802
CGexonicDe novononsynonymous SNVNM_024658c.G2962Cp.A988P16.522.0E-4Ji2016 E
DEPTOR     14459.p1chr8:
120886198-120886198
GCexonicDe novononsynonymous SNVNM_001283012
NM_022783
c.G112C
c.G112C
p.E38Q
p.E38Q
16.39-Ji2016 E
TBC1D31     13975.p1chr8:
124140567-124140567
GCexonicDe novononsynonymous SNVNM_001145088
NM_145647
c.G1931C
c.G1931C
p.R644T
p.R644T
11.91-Ji2016 E
TRAPPC9     14196.p1chr8:
141468396-141468396
GAexonicDe novononsynonymous SNVNM_031466c.C268Tp.R90C13.71-Ji2016 E
ADGRB1     13634.p1chr8:
143605599-143605599
CGexonicDe novostopgainNM_001702c.C3246Gp.Y1082X42.0-Ji2016 E
GLI4     13529.p1chr8:
144358823-144358823
AGexonicDe novononsynonymous SNVNM_138465c.A980Gp.D327G15.59.145E-6Ji2016 E
TOP1MT     14100.p1chr8:
144400250-144400250
TCexonicDe novononsynonymous SNVNM_001258447
NM_052963
NM_001258446
c.A859G
c.A1153G
c.A859G
p.K287E
p.K385E
p.K287E
14.038.252E-6Ji2016 E
ZC3H3     12922.p1chr8:
144550618-144550618
CTexonicDe novononsynonymous SNVNM_015117c.G2039Ap.G680D23.6-Ji2016 E
NAPRT     11356.p1chr8:
144659231-144659231
CTsplicingDe novosplicing15.08-Ji2016 E
OPLAH     11518.p1chr8:
145114848-145114848
CTexonicDe novononsynonymous SNVNM_017570c.G88Ap.V30M12.878.484E-6Ji2016 E
DGAT1     12901.p1chr8:
145545015-145545015
CTexonicDe novononsynonymous SNVNM_012079c.G257Ap.R86H31.0-Ji2016 E
ZNF486     13769.p1chr19:
20296810-20296813
AAGCAexonicDe novononframeshift deletionNM_052852c.173_175delp.58_59del--Ji2016 E
MFSD3     11776.p1chr8:
145735147-145735147
AAAGCTGGGGGCCGCGCTexonicDe novoframeshift insertionNM_138431c.431_432insAGCTGGGGGCCGCGCTp.K144fs--Ji2016 E
KANK1     11108.p1chr9:
712508-712508
GAexonicDe novononsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G1268A
c.G1742A
c.G1742A
c.G1742A
p.C423Y
p.C581Y
p.C581Y
p.C581Y
13.378.241E-6Ji2016 E
RIC1     12661.p1chr9:
5763642-5763642
ACexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.A2504C
c.A2615C
c.A2615C
p.E835A
p.E872A
p.E872A
18.955.767E-5Ji2016 E
RIC1     13638.p1chr9:
5769178-5769178
AGexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.A3235G
c.A3346G
c.A3346G
p.K1079E
p.K1116E
p.K1116E
11.678.25E-6Ji2016 E
MLANA     13289.p1chr9:
5892550-5892550
GTexonicDe novostopgainNM_005511c.G76Tp.E26X38.0-Ji2016 E
IL33     14228.p1chr9:
6251242-6251242
CAexonicDe novononsynonymous SNVNM_001199640
NM_001314044
NM_001314045
NM_001314046
NM_001314047
NM_033439
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
12.35-Ji2016 E
NFIB     14385.p1chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Ji2016 E
SNAPC3     12591.p1chr9:
15459725-15459725
CTexonicDe novononsynonymous SNVNM_001039697c.C1097Tp.T366M28.31.65E-5Ji2016 E
CCDC171     14575.p1chr9:
15784693-15784693
GAsplicingDe novosplicing19.64-Ji2016 E
ADAMTSL1     13872.p1chr9:
18721602-18721602
GAexonicDe novononsynonymous SNVNM_001040272c.G1945Ap.V649M19.215.77E-5Ji2016 E
PEG10     13604.p1chr7:
94293229-94293229
GAexonicDe novononsynonymous SNVNM_001040152
NM_001172438
NM_001184962
c.G361A
c.G589A
c.G463A
p.V121M
p.V197M
p.V155M
15.64-Ji2016 E
IFNA10     13771.p1chr9:
21207037-21207037
ATexonicDe novostopgainNM_002171c.T60Ap.C20X17.280.2213Ji2016 E
ELAVL2     14248.p1chr9:
23692707-23692714
CACGGATGCexonicDe novoframeshift deletionNM_001171195
NM_001171197
NM_004432
c.882_888del
c.882_888del
c.921_927del
p.V294fs
p.V294fs
p.V307fs
--Ji2016 E
TUSC1     14620.p1chr9:
25677688-25677688
CTexonicDe novostopgainNM_001004125c.G632Ap.W211X38.0-Ji2016 E
LRRC19     11957.p1chr9:
26997891-26997891
GCexonicDe novononsynonymous SNVNM_022901c.C430Gp.L144V11.65-Ji2016 E
DDX58     11922.p1chr9:
32493940-32493940
CTexonicDe novononsynonymous SNVNM_014314c.G242Ap.G81D16.03-Ji2016 E
MYORG     12827.p1chr9:
34372637-34372637
AGexonicDe novounknown13.01-Ji2016 E
NCR1     14300.p1chr19:
55418040-55418040
GAexonicDe novononsynonymous SNVNM_001145457
NM_001145458
NM_004829
c.G230A
c.G230A
c.G230A
p.R77Q
p.R77Q
p.R77Q
10.541.651E-5Ji2016 E
DNAJB5     11188.p1chr9:
34997212-34997212
CGexonicDe novononsynonymous SNVNM_001135005
NM_012266
NM_001135004
c.C1219G
c.C1003G
c.C1345G
p.P407A
p.P335A
p.P449A
14.17-Ji2016 E
FAM214B     12232.p1chr9:
35106325-35106325
CTexonicDe novononsynonymous SNVNM_025182c.G1142Ap.C381Y19.62-Ji2016 E
RNF38     12056.p1chr9:
36375929-36375929
AGsplicingDe novosplicing20.7-Ji2016 E
FBXO10       11629.p1chr9:
37541606-37541606
CTexonicDe novononsynonymous SNVNM_012166c.G160Ap.E54K20.57.625E-5Ji2016 E
NDC80     12842.p1chr18:
2595619-2595619
CTexonicDe novononsynonymous SNVNM_006101c.C1220Tp.A407V14.918.376E-6Ji2016 E
APBA1     11333.p1chr9:
72047457-72047457
CTexonicDe novononsynonymous SNVNM_001163c.G2437Ap.G813R34.0-Ji2016 E
TRPM3     11782.p1chr9:
73151650-73151652
AGTAexonicDe novoframeshift deletionNM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946
c.3852_3853del
c.4341_4342del
c.3882_3883del
c.3888_3889del
c.3927_3928del
c.3918_3919del
c.3957_3958del
p.T1284fs
p.T1447fs
p.T1294fs
p.T1296fs
p.T1309fs
p.T1306fs
p.T1319fs
--Ji2016 E
RORB     14314.p1chr9:
77245254-77245254
TGexonicDe novononsynonymous SNVNM_006914c.T64Gp.Y22D24.6-Ji2016 E
TRPM6     12908.p1chr9:
77339567-77339567
TGexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.A6016C
c.A6016C
c.A6031C
p.T2006P
p.T2006P
p.T2011P
12.22-Ji2016 E
TRPM6     14448.p1chr9:
77416901-77416901
GTexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.C1907A
c.C1907A
c.C1922A
p.A636E
p.A636E
p.A641E
17.81-Ji2016 E
IQCB1     13621.p1chr3:
121507230-121507230
ACexonicDe novononsynonymous SNVNM_001023571
NM_001023570
c.T780G
c.T1179G
p.I260M
p.I393M
17.68-Ji2016 E
PRUNE2     14383.p1chr9:
79323453-79323453
CTexonicDe novononsynonymous SNVNM_001308047
NM_001308048
NM_015225
c.G3737A
c.G3737A
c.G3737A
p.R1246K
p.R1246K
p.R1246K
12.2-Ji2016 E
VPS13A     13623.p1chr9:
79932586-79932586
ATexonicDe novononsynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305
c.A4811T
c.A4928T
c.A4928T
c.A4928T
p.D1604V
p.D1643V
p.D1643V
p.D1643V
16.82-Ji2016 E
TLE4     11199.p1chr9:
82337496-82337496
CTexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.C1910T
c.C2042T
c.C2117T
c.C2213T
c.C1754T
p.S637L
p.S681L
p.S706L
p.S738L
p.S585L
35.0-Ji2016 E
FRMD3     13598.p1chr9:
85926860-85926860
AGexonicDe novononsynonymous SNVNM_001244961
NM_001244959
NM_001244960
NM_174938
c.T133C
c.T715C
c.T583C
c.T715C
p.F45L
p.F239L
p.F195L
p.F239L
15.86-Ji2016 E
NTRK2     14626.p1chr9:
87338598-87338598
GTexonicDe novononsynonymous SNVNM_001018064
NM_001007097
NM_001018065
NM_001018066
NM_001291937
NM_006180
c.G694T
c.G694T
c.G694T
c.G694T
c.G694T
c.G694T
p.V232F
p.V232F
p.V232F
p.V232F
p.V232F
p.V232F
14.4-Ji2016 E
DAPK1     13884.p1chr9:
90264933-90264933
GAexonicDe novononsynonymous SNVNM_001288729
NM_001288730
NM_001288731
NM_004938
c.G1526A
c.G1526A
c.G1526A
c.G1526A
p.R509Q
p.R509Q
p.R509Q
p.R509Q
19.912.485E-5Ji2016 E
NFIL3     13703.p1chr9:
94172880-94172880
ACexonicDe novononsynonymous SNVNM_001289999
NM_001290000
NM_005384
c.T137G
c.T137G
c.T137G
p.L46R
p.L46R
p.L46R
25.9-Ji2016 E
FGD3     12187.p1chr9:
95782633-95782633
AGexonicDe novononsynonymous SNVNM_001083536
NM_001286993
NM_033086
c.A1421G
c.A1421G
c.A1421G
p.N474S
p.N474S
p.N474S
15.54-Ji2016 E
PHF2     13903.p1chr9:
96437988-96437988
CTexonicDe novostopgainNM_005392c.C2749Tp.Q917X36.0-Ji2016 E
TRMO     14287.p1chr9:
100672811-100672811
GAexonicDe novononsynonymous SNVNM_016481c.C497Tp.P166L36.04.119E-5Ji2016 E
TBC1D2     12967.p1chr9:
100962646-100962646
CTexonicDe novononsynonymous SNVNM_001267572
NM_001267571
c.G1088A
c.G2468A
p.R363H
p.R823H
27.52.31E-5Ji2016 E
MRPL50     12265.p1chr9:
104160870-104160870
GCexonicDe novononsynonymous SNVNM_019051c.C5Gp.A2G20.78.244E-6Ji2016 E
ABCA1     11149.p1chr9:
107558453-107558453
GCexonicDe novononsynonymous SNVNM_005502c.C5263Gp.P1755A26.8-Ji2016 E
ZNF462     11445.p1chr9:
109692806-109692806
CAexonicDe novononsynonymous SNVNM_021224c.C5848Ap.P1950T14.08-Ji2016 E
PTGR1     11526.p1chr9:
114341206-114341206
CTexonicDe novononsynonymous SNVNM_001146108
NM_001146109
NM_012212
c.G521A
c.G521A
c.G521A
p.G174E
p.G174E
p.G174E
16.61-Ji2016 E
INIP     14548.p1chr9:
115456456-115456456
TGexonicDe novononsynonymous SNVNM_021218c.A83Cp.K28T14.89-Ji2016 E
AMBP     13993.p1chr9:
116824955-116824955
AGsplicingDe novosplicing13.58-Ji2016 E
AKNA     11215.p1chr9:
117103870-117103870
GAexonicDe novononsynonymous SNVNM_030767c.C4010Tp.P1337L13.591.649E-5Ji2016 E
LYSMD4     12820.p1chr15:
100272044-100272044
TCexonicDe novononsynonymous SNVNM_001284417
NM_001284418
NM_001284419
NM_152449
c.A161G
c.A161G
c.A73G
c.A73G
p.E54G
p.E54G
p.S25G
p.S25G
17.83-Ji2016 E
PHF19     12304.p1chr9:
123636848-123636848
CTexonicDe novononsynonymous SNVNM_001009936
NM_001286840
NM_001286843
NM_015651
c.G172A
c.G229A
c.G172A
c.G172A
p.G58R
p.G77R
p.G58R
p.G58R
29.7-Ji2016 E
MRRF     13692.p1chr9:
125054092-125054092
GAexonicDe novononsynonymous SNVNM_001173512
NM_199177
NM_138777
c.G368A
c.G524A
c.G524A
p.G123E
p.G175E
p.G175E
20.1-Ji2016 E
GAPVD1     14368.p1chr9:
128092441-128092441
CGexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680
c.C2054G
c.C2117G
c.C2117G
c.C2117G
p.T685S
p.T706S
p.T706S
p.T706S
21.1-Ji2016 E
GAPVD1     13732.p1chr9:
128117108-128117108
GCexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680
c.G3682C
c.G3826C
c.G3799C
c.G3745C
p.E1228Q
p.E1276Q
p.E1267Q
p.E1249Q
14.83-Ji2016 E
GAPVD1     14592.p1chr9:
128118025-128118025
CAexonicDe novononsynonymous 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-Ji2016 E
SH2D3C     12233.p1chr9:
130513455-130513455
CTexonicDe novononsynonymous SNVNM_001142533
NM_001142534
NM_005489
NM_001252334
NM_170600
c.G206A
c.G200A
c.G209A
c.G476A
c.G680A
p.R69Q
p.R67Q
p.R70Q
p.R159Q
p.R227Q
29.51.652E-5Ji2016 E
SPTAN1     14468.p1chr9:
131386710-131386710
AGexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438
c.A5861G
c.A5921G
c.A5936G
p.E1954G
p.E1974G
p.E1979G
21.4-Ji2016 E
NUP188     11937.p1chr9:
131715118-131715118
CAexonicDe novononsynonymous SNVNM_015354c.C154Ap.P52T29.3-Ji2016 E
PTGES     13822.p1chr9:
132501907-132501907
CTexonicDe novononsynonymous SNVNM_004878c.G442Ap.A148T13.65-Ji2016 E
ABL1     14373.p1chr9:
133730284-133730284
CTexonicDe novononsynonymous SNVNM_005157
NM_007313
c.C350T
c.C407T
p.T117M
p.T136M
33.0-Ji2016 E
LAMC3     11666.p1chr9:
133914290-133914290
AGexonicDe novononsynonymous SNVNM_006059c.A1016Gp.D339G19.64-Ji2016 E
LAMC3     11704.p1chr9:
133952690-133952690
AGexonicDe novononsynonymous SNVNM_006059c.A3746Gp.Y1249C10.13-Ji2016 E
NUP214     12289.p1chr9:
134049607-134049607
GAexonicDe novononsynonymous SNVNM_005085c.G3059Ap.R1020H36.01.648E-5Ji2016 E
SETX     14061.p1chr9:
135153629-135153629
CTexonicDe novononsynonymous SNVNM_015046c.G6670Ap.G2224S32.08.237E-6Ji2016 E
BRD3     11263.p1chr9:
136899892-136899892
TCexonicDe novononsynonymous SNVNM_007371c.A1996Gp.K666E19.431.0E-4Ji2016 E
SOHLH1     11216.p1chr9:
138590177-138590177
CTexonicDe novononsynonymous SNVNM_001012415
NM_001101677
c.G343A
c.G343A
p.A115T
p.A115T
12.172.498E-5Ji2016 E
GPSM1     14540.p1chr9:
139231956-139231956
GAexonicDe novononsynonymous SNVNM_001145638
NM_015597
c.G637A
c.G637A
p.G213S
p.G213S
34.04.079E-5Ji2016 E
SDCCAG3     13602.p1chr9:
139304580-139304580
TTTexonicDe novostopgainNM_001039707
NM_006643
c.182dupA
c.182dupA
p.Y61_V62delinsX
p.Y61_V62delinsX
--Ji2016 E
NOTCH1     13344.p1chr9:
139396487-139396487
CTexonicDe novostopgainNM_017617c.G5438Ap.W1813X46.0-Ji2016 E
LCN10     11252.p1chr9:
139636334-139636334
GAexonicDe novononsynonymous SNVNM_001001712c.C256Tp.R86W18.013.428E-5Ji2016 E
CCDC183     11337.p1chr9:
139699840-139699840
GAexonicDe novononsynonymous SNVNM_001039374c.G879Ap.M293I11.76-Ji2016 E
ABCA2     12225.p1chr9:
139906388-139906388
CTexonicDe novononsynonymous SNVNM_001606
NM_212533
c.G5443A
c.G5533A
p.V1815M
p.V1845M
15.358.46E-6Ji2016 E
IQGAP1     13762.p1chr15:
91010810-91010810
CTexonicDe novononsynonymous SNVNM_003870c.C2164Tp.R722W15.0-Ji2016 E
ZNF536     11588.p1chr19:
31039705-31039706
ACAexonicDe novoframeshift deletionNM_014717c.3180delCp.N1060fs--Ji2016 E
TUBB4B     14686.p1chr9:
140137227-140137227
CTexonicDe novononsynonymous SNVNM_006088c.C557Tp.T186I18.1-Ji2016 E
PNPLA7     12249.p1chr9:
140357232-140357232
TGexonicDe novononsynonymous SNVNM_152286
NM_001098537
c.A3322C
c.A3397C
p.S1108R
p.S1133R
20.1-Ji2016 E
PNPLA7     14189.p1chr9:
140358800-140358800
GAexonicDe novostopgainNM_152286
NM_001098537
c.C3073T
c.C3148T
p.Q1025X
p.Q1050X
33.0-Ji2016 E
TUBB8     14485.p1chr10:
93257-93257
GAexonicDe novononsynonymous SNVNM_177987c.C1075Tp.R359W10.710.0011Ji2016 E
LARP4B     14093.p1chr10:
876865-876867
TCATexonicDe novoframeshift deletionNM_015155c.801_802delp.C267fs--Ji2016 E
WDR37     13998.p1chr10:
1118115-1118115
GAexonicDe novononsynonymous SNVNM_014023c.G20Ap.S7N15.62-Ji2016 E
AKR1C2     13399.p1chr10:
5032204-5032204
AGexonicDe novononsynonymous SNVNM_205845
NM_001354
c.T956C
c.T956C
p.F319S
p.F319S
10.63-Ji2016 E
AKR1C2     11214.p1chr10:
5042775-5042775
GTexonicDe novononsynonymous SNVNM_001135241
NM_205845
NM_001354
c.C336A
c.C336A
c.C336A
p.D112E
p.D112E
p.D112E
15.42-Ji2016 E
FBXO18     11252.p1chr10:
5963470-5963470
GAexonicDe novononsynonymous SNVNM_001258452
NM_178150
NM_001258453
NM_032807
c.G2038A
c.G2260A
c.G2038A
c.G2413A
p.V680M
p.V754M
p.V680M
p.V805M
21.9-Ji2016 E
FBXO18     11318.p1chr10:
5979124-5979124
CTexonicDe novostopgainNM_178150
NM_001258452
NM_001258453
NM_032807
c.C3013T
c.C2842T
c.C2791T
c.C3166T
p.Q1005X
p.Q948X
p.Q931X
p.Q1056X
41.0-Ji2016 E
ECHDC3     14404.p1chr10:
11789383-11789383
CTexonicDe novononsynonymous SNVNM_024693c.C206Tp.A69V23.98.237E-6Ji2016 E
UCMA     11367.p1chr10:
13275601-13275601
CTexonicDe novononsynonymous SNVNM_145314c.G157Ap.D53N27.5-Ji2016 E
PRPF18     14526.p1chr10:
13629108-13629108
AGexonicDe novononsynonymous SNVNM_003675c.A22Gp.I8V19.03-Ji2016 E
NMT2     12539.p1chr10:
15183471-15183471
ATexonicDe novononsynonymous SNVNM_001308295
NM_004808
c.T114A
c.T196A
p.S38R
p.S66T
14.97-Ji2016 E
ITGA8     13306.p1chr10:
15634273-15634273
GAexonicDe novononsynonymous SNVNM_001291494
NM_003638
c.C2197T
c.C2242T
p.R733C
p.R748C
24.21.0E-4Ji2016 E
CUBN     13844.p1chr10:
17127755-17127755
GAexonicDe novostopgainNM_001081c.C1951Tp.R651X41.0-Ji2016 E
SLC39A12     12261.p1chr10:
18250538-18250538
TCexonicDe novononsynonymous SNVNM_001145195
NM_001282733
NM_152725
c.T290C
c.T290C
c.T290C
p.I97T
p.I97T
p.I97T
11.1-Ji2016 E
SKIDA1     11925.p1chr10:
21805727-21805728
TGTexonicDe novoframeshift deletionNM_207371c.1024delCp.H342fs--Ji2016 E
WAC     14200.p1chr10:
28879673-28879675
CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486
c.523_524del
c.388_389del
c.523_524del
p.K175fs
p.K130fs
p.K175fs
--Ji2016 E
WAC     14204.p1chr10:
28899668-28899672
AATTCAexonicDe novoframeshift deletionNM_100486
NM_016628
NM_100264
c.898_901del
c.1207_1210del
c.1072_1075del
p.I300fs
p.I403fs
p.I358fs
--Ji2016 E
JCAD     13271.p1chr10:
30317090-30317090
CTexonicDe novononsynonymous SNVNM_020848c.G1987Ap.D663N17.68-Ji2016 E
HNRNPF     11043.p1chr10:
43883191-43883191
TCexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
10.65-Ji2016 E
WDFY4     11178.p1chr10:
50109868-50109868
CAexonicDe novononsynonymous SNVNM_020945c.C7546Ap.L2516M15.88-Ji2016 E
ANK3     14016.p1chr10:
61833372-61833372
GAexonicDe novononsynonymous SNVNM_020987c.C7267Tp.R2423C18.178.26E-6Ji2016 E
ANK3     11540.p1chr10:
61833827-61833827
AGexonicDe novononsynonymous SNVNM_020987c.T6812Cp.M2271T13.118.24E-6Ji2016 E
OPN1MW     12228.p1chrX:
153496186-153496186
CGexonicDe novononsynonymous SNVNM_000513
NM_001048181
c.C914G
c.C914G
p.A305G
p.A305G
19.121.0E-4Ji2016 E
CTNNA3     13829.p1chr10:
68535201-68535201
CAsplicingDe novosplicing23.1-Ji2016 E
RUFY2     13979.p1chr10:
70143890-70143890
TCexonicDe novononsynonymous SNVNM_001042417
NM_001278225
NM_017987
c.A638G
c.A566G
c.A845G
p.N213S
p.N189S
p.N282S
13.59-Ji2016 E
TET1     11242.p1chr10:
70333978-70333978
AGexonicDe novononsynonymous SNVNM_030625c.A1883Gp.K628R15.29-Ji2016 E
DDX50     14251.p1chr10:
70670829-70670829
GAexonicDe novononsynonymous SNVNM_024045c.G466Ap.G156R24.1-Ji2016 E
ZSWIM8     13735.p1chr10:
75560469-75560469
CGexonicDe novononsynonymous SNVNM_001242487
NM_001242488
NM_015037
c.C5083G
c.C5059G
c.C5098G
p.P1695A
p.P1687A
p.P1700A
18.761.657E-5Ji2016 E
PTEN     13991.p1chr10:
89692790-89692790
GAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G274A
c.G793A
p.D92N
p.D265N
33.0-Ji2016 E
PTEN     14433.p1chr10:
89692908-89692908
CTexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C392T
c.C911T
p.T131I
p.T304I
27.8-Ji2016 E
PTEN     11390.p1chr10:
89711882-89711882
CAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-Ji2016 E
BTAF1     11025.p1chr10:
93723898-93723899
CACexonicDe novoframeshift deletionNM_003972c.1470delAp.T490fs--Ji2016 E
PDE6C     11984.p1chr10:
95372793-95372793
GAexonicDe novononsynonymous SNVNM_006204c.G311Ap.R104Q33.08.259E-6Ji2016 E
SORBS1     13147.p1chr10:
97098949-97098951
CCACexonicDe novoframeshift deletionNM_006434
NM_001034957
NM_001290295
NM_001290297
NM_015385
NM_001290298
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294
c.1754_1755del
c.1922_1923del
c.1949_1950del
c.2135_2136del
c.2150_2151del
c.2240_2241del
c.2045_2046del
c.2357_2358del
c.2714_2715del
c.2804_2805del
c.2870_2871del
c.2666_2667del
p.V585fs
p.V641fs
p.V650fs
p.V712fs
p.V717fs
p.V747fs
p.V682fs
p.V786fs
p.V905fs
p.V935fs
p.V957fs
p.V889fs
--Ji2016 E