MSeqDR Master Exome Data Set M1: 387 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
9
135766834
T
G
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
NA
-
-
lod=650:661
-
-
-
het
2
2
9
135766834
T
G
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
NA
-
-
lod=650:661
-
-
-
het
2
3
9
135766834
T
G
ENST00000545250
ENSG00000165699
135766735
135820020
ENSP00000444017
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
NA
-
-
lod=650:661
-
-
-
het
2
4
9
135766859
A
G
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs79470094
0.052
-
lod=650:661
-
-
-
het
2
5
9
135766859
A
G
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs79470094
0.052
-
lod=650:661
-
-
-
het
2
6
9
135766859
A
G
ENST00000545250
ENSG00000165699
135766735
135820020
ENSP00000444017
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs79470094
0.052
-
lod=650:661
-
-
-
het
2
7
9
135766990
T
-A
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs60000611
-
-
lod=310:582
-
-
-
het
2
8
9
135766990
T
-A
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs60000611
-
-
lod=310:582
-
-
-
het
2
9
9
135766990
T
-A
ENST00000545250
ENSG00000165699
135766735
135820020
ENSP00000444017
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs60000611
-
-
lod=310:582
-
-
-
het
2
10
9
135767175
G
A
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs112968492
-
-
lod=108:470
-
-
-
het
2
11
9
135767175
G
A
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs112968492
-
-
lod=108:470
-
-
-
het
2
12
9
135767175
G
A
ENST00000545250
ENSG00000165699
135766735
135820020
ENSP00000444017
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs112968492
-
-
lod=108:470
-
-
-
het
2
13
9
135767185
C
T
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs11553763
0.2155
-
lod=108:470
-
-
-
het
115
14
9
135767185
C
T
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs11553763
0.2155
-
lod=108:470
-
-
-
hom
10
15
9
135767185
C
T
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs11553763
0.2155
-
lod=108:470
-
-
-
het
115
16
9
135767185
C
T
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs11553763
0.2155
-
lod=108:470
-
-
-
hom
10
17
9
135767185
C
T
ENST00000545250
ENSG00000165699
135766735
135820020
ENSP00000444017
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs11553763
0.2155
-
lod=108:470
-
-
-
het
115
18
9
135767185
C
T
ENST00000545250
ENSG00000165699
135766735
135820020
ENSP00000444017
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
rs11553763
0.2155
-
lod=108:470
-
-
-
hom
10
19
9
135767374
G
A
ENST00000298552
ENSG00000165699
135766735
135820020
ENSP00000298552
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
20
9
135767374
G
A
ENST00000440111
ENSG00000165699
135766735
135820020
ENSP00000394524
TSC1
-1
TSC1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
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