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Results for "Sanders2012"

Variant Events: 96

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
FEZF2     11074.p1chr3:
62356982-62356982		GAexonicDe novononsynonymous SNVNM_018008c.C1030Tp.R344C13.59-Sanders2012 E
SLC22A9     11241.p1chr11:
63177324-63177324		CTexonicDe novononsynonymous SNVNM_080866c.C1652Tp.T551M13.281.0E-4Sanders2012 E
USP46     11050.p1chr4:
53492207-53492207		GAexonicDe novononsynonymous SNVNM_001134223
NM_001286767
NM_022832
NM_001286768		c.C518T
c.C503T
c.C539T
c.C191T		p.T173I
p.T168I
p.T180I
p.T64I		14.8-Sanders2012 E
C2orf42     11797.p1chr2:
70392261-70392261		TCexonicDe novononsynonymous SNVNM_017880c.A1316Gp.N439S12.73-Sanders2012 E
SORCS1     11000.p1chr10:
108447964-108447964		CTexonicDe novononsynonymous SNVNM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918		c.G1546A
c.G1546A
c.G1546A
c.G1546A
c.G1546A
c.G1546A		p.V516M
p.V516M
p.V516M
p.V516M
p.V516M
p.V516M		18.621.656E-5Sanders2012 E
TCF7L1     11066.p1chr2:
85529727-85529727		GTexonicDe novononsynonymous SNVNM_031283c.G646Tp.D216Y23.0-Sanders2012 E
RAB2A     11077.p1chr8:
61484622-61484622		CTexonicDe novostopgainNM_001242644
NM_002865		c.C64T
c.C136T		p.R22X
p.R46X		28.2-Sanders2012 E
MDN1     11555.p1chr6:
90402347-90402347		GCexonicDe novononsynonymous SNVNM_014611c.C10402Gp.L3468V11.83-Sanders2012 E
MYH9     11810.p1chr22:
36684831-36684831		CTexonicDe novononsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Sanders2012 E
TRRAP     11828.p1chr7:
98506430-98506430		GAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G1195A
c.G1195A		p.V399I
p.V399I		23.43.37E-5Sanders2012 E
EMC4     11484.p1chr15:
34520732-34520732		CGexonicDe novononsynonymous SNVNM_016454c.C458Gp.S153C28.0-Sanders2012 E
OR5AC2     11555.p1chr3:
97806680-97806680		CTexonicDe novononsynonymous SNVNM_054106c.C664Tp.R222C10.834.18E-5Sanders2012 E
SMC3     11519.p1chr10:
112359556-112359556		CTexonicDe novononsynonymous SNVNM_005445c.C2413Tp.R805C21.78.245E-6Sanders2012 E
ABI3BP     11484.p1chr3:
100471643-100471643		CTexonicDe novononsynonymous SNVNM_015429c.G2977Ap.D993N34.05.828E-5Sanders2012 E
NPFFR2     11412.p1chr4:
72994491-72994491		GCexonicDe novononsynonymous SNVNM_004885
NM_053036
NM_001144756		c.G489C
c.G183C
c.G192C		p.M163I
p.M61I
p.M64I		7.435-Sanders2012 E
ADGRL1     11808.p1chr19:
14268081-14268081		GTexonicDe novosynonymous SNVNM_014921
NM_001008701		c.C2727A
c.C2742A		p.I909I
p.I914I		--Sanders2012 E
KMT5B     11729.p1chr11:
67926275-67926275		GAexonicDe novononsynonymous SNVNM_001300908
NM_017635
NM_001300907		c.C818T
c.C1538T
c.C1022T		p.A273V
p.A513V
p.A341V		20.51.65E-5Sanders2012 E
KMT5B     11519.p1chr11:
67939039-67939039		CGexonicDe novononsynonymous SNVNM_001300909
NM_001300908
NM_016028
NM_017635
NM_001300907		c.G722C
c.G71C
c.G791C
c.G791C
c.G275C		p.W241S
p.W24S
p.W264S
p.W264S
p.W92S		26.2-Sanders2012 E
CHRND     11729.p1chr2:
233396326-233396326		GAexonicDe novononsynonymous SNVNM_001311195
NM_001256657
NM_000751
NM_001311196		c.G425A
c.G962A
c.G1007A
c.G704A		p.R142Q
p.R321Q
p.R336Q
p.R235Q		37.04.123E-5Sanders2012 E
POPDC2     12154.p1chr3:
119367114-119367114		GAexonicDe novosynonymous SNVNM_001308333
NM_022135		c.C1002T
c.C1002T		p.G334G
p.G334G		--Sanders2012 E
TUBA1A     11724.p1chr12:
49579631-49579631		GAexonicDe novononsynonymous SNVNM_001270399
NM_001270400
NM_006009		c.C518T
c.C413T
c.C518T		p.P173L
p.P138L
p.P173L		15.57-Sanders2012 E
TROAP     11107.p1chr12:
49725038-49725038		CTexonicDe novononsynonymous SNVNM_005480c.C2140Tp.R714C24.51.65E-5Sanders2012 E
CYP4F3     12228.p1chr19:
15763419-15763419		CTexonicDe novononsynonymous SNVNM_000896
NM_001199208
NM_001199209		c.C959T
c.C959T
c.C959T		p.A320V
p.A320V
p.A320V		23.0-Sanders2012 E
GBP6     11470.p1chr1:
89846006-89846006		ATexonicDe novosynonymous SNVNM_198460c.A687Tp.P229P--Sanders2012 E
CCDC14     11094.p1chr3:
123663756-123663756		AGexonicDe novononsynonymous SNVNM_001308317
NM_022757		c.T827C
c.T1304C		p.I276T
p.I435T		2.917-Sanders2012 E
RFX8     11962.p1chr2:
102083246-102083246		ACexonicDe novononsynonymous SNVNM_001145664c.T65Gp.F22C16.45-Sanders2012 E
PLOD3     11782.p1chr7:
100856461-100856461		CTexonicDe novononsynonymous SNVNM_001084c.G704Ap.R235Q6.1473.374E-5Sanders2012 E
SLC26A5     11336.p1chr7:
103014942-103014942		GCexonicDe novononsynonymous SNVNM_001167962
NM_198999		c.C2043G
c.C2139G		p.S681R
p.S713R		11.38-Sanders2012 E
BRD1     11301.p1chr22:
50167925-50167925		GAexonicDe novononsynonymous SNVNM_001304808
NM_001304809		c.C3526T
c.C3133T		p.R1176C
p.R1045C		14.782.473E-5Sanders2012 E
LLGL1     12297.p1chr17:
18140835-18140835		CTexonicDe novononsynonymous SNVNM_004140c.C1652Tp.A551V9.2312.834E-5Sanders2012 E
MYB     11470.p1chr6:
135507151-135507151		GAexonicDe novononsynonymous SNVNM_001130172
NM_001130173
NM_001161656
NM_001161657
NM_001161658
NM_001161659
NM_001161660
NM_005375		c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A		p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q		35.0-Sanders2012 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-Sanders2012 E
SUPT16H     11089.p1chr14:
21828671-21828671		CTexonicDe novononsynonymous SNVNM_007192c.G2078Ap.R693Q36.0-Sanders2012 E
GREB1L     11304.p1chr18:
19093823-19093823		CTexonicDe novosynonymous SNVNM_001142966c.C4777Tp.L1593L--Sanders2012 E
TRPM7     11962.p1chr15:
50923683-50923683		TCexonicDe novononsynonymous SNVNM_001301212
NM_017672		c.A1135G
c.A1135G		p.T379A
p.T379A		26.4-Sanders2012 E
EFR3A     11379.p1chr8:
132982744-132982744		TCexonicDe novononsynonymous SNVNM_015137c.T1013Cp.F338S26.4-Sanders2012 E
IL20RB     11356.p1chr3:
136708288-136708288		CGexonicDe novononsynonymous SNVNM_144717c.C412Gp.L138V20.2-Sanders2012 E
L3MBTL1     11962.p1chr20:
42169759-42169759		TGexonicDe novononsynonymous SNVNM_015478
NM_032107		c.T2310G
c.T2514G		p.S770R
p.S838R		13.65-Sanders2012 E
KIAA0100     11766.p1chr17:
26961787-26961787		GAexonicDe novononsynonymous SNVNM_014680c.C2818Tp.R940C15.065.0E-4Sanders2012 E
GRM7     11470.p1chr3:
7620458-7620458		GAexonicDe novononsynonymous SNVNM_000844
NM_181874		c.G1865A
c.G1865A		p.R622Q
p.R622Q		24.58.238E-6Sanders2012 E
ZNF335     11301.p1chr20:
44582508-44582508		GAexonicDe novononsynonymous SNVNM_022095c.C2522Tp.P841L15.13-Sanders2012 E
NF1     11782.p1chr17:
29677317-29677317		CAexonicDe novononsynonymous SNVNM_000267
NM_001042492		c.C7375A
c.C7438A		p.H2459N
p.H2480N		11.17-Sanders2012 E
KATNAL2     11008.p1chr18:
44589733-44589733		GAsplicingDe novosplicing21.7-Sanders2012 E
PPP2R1B     11484.p1chr11:
111626054-111626054		GAexonicDe novononsynonymous SNVNM_001177563
NM_181700
NM_001177562
NM_002716
NM_181699		c.C427T
c.C616T
c.C808T
c.C808T
c.C808T		p.R143C
p.R206C
p.R270C
p.R270C
p.R270C		20.3-Sanders2012 E
NAPRT     11356.p1chr8:
144659231-144659231		CTsplicingDe novosplicing15.08-Sanders2012 E
LCN10     11252.p1chr9:
139636334-139636334		GAexonicDe novononsynonymous SNVNM_001001712c.C256Tp.R86W18.013.428E-5Sanders2012 E
FREM3     11074.p1chr4:
144620325-144620325		GAexonicDe novostopgainNM_001168235c.C1504Tp.R502X25.3-Sanders2012 E
DYNAP     11241.p1chr18:
52265167-52265167		GTexonicDe novononsynonymous SNVNM_001307955
NM_173629		c.G268T
c.G424T		p.A90S
p.A142S		0.204-Sanders2012 E
AADACL2     12228.p1chr3:
151451960-151451960		CTexonicDe novononsynonymous SNVNM_207365c.C137Tp.T46M9.624.353E-5Sanders2012 E
GNAS     11132.p1chr20:
57484241-57484241		CGexonicDe novononsynonymous SNVNM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425		c.C510G
c.C513G
c.C555G
c.C558G
c.C378G
c.C378G
c.C2484G		p.I170M
p.I171M
p.I185M
p.I186M
p.I126M
p.I126M
p.I828M		17.71-Sanders2012 E
ANKRD35     11676.p1chr1:
145561197-145561197		GTexonicDe novosynonymous SNVNM_001280799
NM_144698		c.G615T
c.G885T		p.S205S
p.S295S		--Sanders2012 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-6Sanders2012 E
MEGF11     12056.p1chr15:
66198459-66198459		GAexonicDe novononsynonymous SNVNM_032445c.C2731Tp.R911C16.381.0E-4Sanders2012 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-Sanders2012 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-Sanders2012 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-Sanders2012 E
ARHGAP45     11604.p1chr19:
1079991-1079991		TCexonicDe novononsynonymous SNVNM_001282334
NM_001282335
NM_001258328
NM_012292		c.T482C
c.T1226C
c.T1625C
c.T1577C		p.M161T
p.M409T
p.M542T
p.M526T		4.552-Sanders2012 E
CERS6     11962.p1chr2:
169417831-169417831		AGexonicDe novononsynonymous SNVNM_001256126
NM_203463		c.A406G
c.A406G		p.M136V
p.M136V		4.5241.649E-5Sanders2012 E
ITSN2     11766.p1chr2:
24518595-24518595		CTexonicDe novononsynonymous SNVNM_006277
NM_019595
NM_147152		c.G1573A
c.G1573A
c.G1573A		p.V525I
p.V525I
p.V525I		11.83-Sanders2012 E
GRIK5     11301.p1chr19:
42563657-42563657		CAexonicDe novosynonymous SNVNM_001301030
NM_002088		c.G531T
c.G531T		p.L177L
p.L177L		--Sanders2012 E
AREL1     11462.p1chr14:
75142520-75142520		GAexonicDe novononsynonymous SNVNM_001039479c.C962Tp.S321F26.0-Sanders2012 E
DNAH5     11010.p1chr5:
13883123-13883123		CTexonicDe novononsynonymous SNVNM_001369c.G3064Ap.V1022I11.413.295E-5Sanders2012 E
BTN1A1     11132.p1chr6:
26508728-26508728		GAsplicingDe novosplicing9.943-Sanders2012 E
SEC22C     11581.p1chr3:
42610365-42610365		AGexonicDe novosynonymous SNVNM_001201572
NM_001201584
NM_004206
NM_032970		c.T174C
c.T174C
c.T174C
c.T174C		p.F58F
p.F58F
p.F58F
p.F58F		--Sanders2012 E
TJP3     11720.p1chr19:
3743971-3743971		CTexonicDe novosynonymous SNVNM_001267560
NM_001267561		c.C1878T
c.C1905T		p.P626P
p.P635P		-1.648E-5Sanders2012 E
NAV2     12241.p1chr11:
20139742-20139742		GAexonicDe novononsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963		c.G4420A
c.G7036A
c.G7228A
c.G7237A
c.G7405A		p.D1474N
p.D2346N
p.D2410N
p.D2413N
p.D2469N		26.38.239E-6Sanders2012 E
GON4L     11060.p1chr1:
155736011-155736011		CAexonicDe novosynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292		c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T		p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L		--Sanders2012 E
GALC     11107.p1chr14:
88407884-88407884		CTexonicDe novosynonymous SNVNM_001201401
NM_000153
NM_001201402		c.G1620A
c.G1689A
c.G1611A		p.K540K
p.K563K
p.K537K		--Sanders2012 E
DXO     11336.p1chr6:
31938187-31938187		CTexonicDe novononsynonymous SNVNM_005510c.G881Ap.R294H20.73.295E-5Sanders2012 E
SNRK     11411.p1chr3:
43389739-43389739		AGexonicDe novononsynonymous SNVNM_001100594
NM_017719		c.A1988G
c.A1988G		p.K663R
p.K663R		2.971-Sanders2012 E
WDR4     11057.p1chr21:
44270292-44270292		GAexonicDe novononsynonymous SNVNM_001260474
NM_001260475
NM_001260476
NM_001260477
NM_018669
NM_033661		c.C1103T
c.C668T
c.C668T
c.C668T
c.C1106T
c.C1106T		p.T368I
p.T223I
p.T223I
p.T223I
p.T369I
p.T369I		13.281.66E-5Sanders2012 E
IQGAP3     11067.p1chr1:
156503911-156503911		GCexonicDe novononsynonymous SNVNM_178229c.C3763Gp.Q1255E12.55-Sanders2012 E
SLC6A13     11298.p1chr12:
332363-332363		GAexonicDe novononsynonymous SNVNM_001190997
NM_016615		c.C1073T
c.C1349T		p.A358V
p.A450V		18.671.651E-5Sanders2012 E
RNF38     12056.p1chr9:
36375929-36375929		AGsplicingDe novosplicing20.7-Sanders2012 E
CASK     11379.p1chrX:
41524649-41524649		CTexonicDe novononsynonymous SNVNM_001126054
NM_001126055
NM_003688		c.G589A
c.G589A
c.G589A		p.G197R
p.G197R
p.G197R		32.0-Sanders2012 E
LTBP1     11301.p1chr2:
33572486-33572486		ACexonicDe novononsynonymous SNVNM_001166264
NM_001166266
NM_000627
NM_001166265
NM_206943		c.A2805C
c.A2646C
c.A2931C
c.A2772C
c.A3909C		p.E935D
p.E882D
p.E977D
p.E924D
p.E1303D		20.4-Sanders2012 E
SV2B     11356.p1chr15:
91825013-91825013		TAexonicDe novononsynonymous SNVNM_001167580
NM_014848		c.T976A
c.T1429A		p.C326S
p.C477S		27.3-Sanders2012 E
AGO1     11740.p1chr1:
36367118-36367118		CTexonicDe novononsynonymous SNVNM_001317123
NM_012199		c.C839T
c.C1064T		p.T280I
p.T355I		26.2-Sanders2012 E
DBNL     11382.p1chr7:
44100380-44100380		CTexonicDe novosynonymous SNVNM_001284313
NM_001284315
NM_001014436
NM_001122956
NM_014063		c.C849T
c.C876T
c.C1158T
c.C1185T
c.C1161T		p.D283D
p.D292D
p.D386D
p.D395D
p.D387D		8.2753.331E-5Sanders2012 E
OR6N2     11470.p1chr1:
158746730-158746730		TAexonicDe novosynonymous SNVNM_001005278c.A696Tp.S232S--Sanders2012 E
GSE1     11524.p1chr16:
85691078-85691078		GAexonicDe novononsynonymous SNVNM_001134473
NM_001278184
NM_014615		c.G1196A
c.G1289A
c.G1508A		p.R399Q
p.R430Q
p.R503Q		20.2-Sanders2012 E
ANK3     11540.p1chr10:
61833827-61833827		AGexonicDe novononsynonymous SNVNM_020987c.T6812Cp.M2271T13.118.24E-6Sanders2012 E
FCRL6     11524.p1chr1:
159778750-159778750		GAsplicingDe novosplicing11.07-Sanders2012 E
MADD     11437.p1chr11:
47304002-47304002		CTexonicDe novononsynonymous SNVNM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476		c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T		p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C		29.8-Sanders2012 E
TET1     11242.p1chr10:
70333978-70333978		AGexonicDe novononsynonymous SNVNM_030625c.A1883Gp.K628R15.29-Sanders2012 E
ESS2     11808.p1chr22:
19127459-19127459		TCexonicDe novononsynonymous SNVNM_022719c.A479Gp.N160S25.3-Sanders2012 E
ADGRV1     11484.p1chr5:
89949288-89949288		GCexonicDe novononsynonymous SNVNM_032119c.G3897Cp.M1299I15.15-Sanders2012 E
NR2F1     11063.p1chr5:
92929487-92929487		GAexonicDe novononsynonymous SNVNM_005654c.G1211Ap.R404H28.5-Sanders2012 E
TMEM8A     11940.p1chr16:
426580-426580		CTexonicDe novononsynonymous SNVNM_021259c.G868Ap.G290R4.9-Sanders2012 E
GOLGA3     11733.p1chr12:
133381371-133381371		CGexonicDe novononsynonymous SNVNM_001172557
NM_005895		c.G1528C
c.G1528C		p.E510Q
p.E510Q		19.62-Sanders2012 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-Sanders2012 E
MPHOSPH8     12224.p1chr13:
20235898-20235898		CTexonicDe novostopgainNM_017520c.C1852Tp.R618X21.2-Sanders2012 E
GTF2IRD1     12295.p1chr7:
73969529-73969529		AGexonicDe novononsynonymous SNVNM_001199207
NM_005685
NM_016328		c.A2038G
c.A1942G
c.A1942G		p.K680E
p.K648E
p.K648E		12.898.271E-6Sanders2012 E
NLRP11     11089.p1chr19:
56320401-56320401		CAexonicDe novosynonymous SNVNM_001297743
NM_145007		c.G1278T
c.G1575T		p.S426S
p.S525S		--Sanders2012 E
SCP2     11712.p1chr1:
53416506-53416506		CCTGexonicDe novoframeshift insertionNM_001193599
NM_001193617
NM_002979		c.207_208insTG
c.36_37insTG
c.279_280insTG		p.N69fs
p.N12fs
p.N93fs		--Sanders2012 E
NSUN7     11581.p1chr4:
40762471-40762471		ACexonicDe novononsynonymous SNVNM_024677c.A319Cp.I107L16.57-Sanders2012 E
Source Variant Information

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Paper Information
Title
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Technology
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Design
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Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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