MSeqDR Master Exome Data Set M1: 140 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
12
114791891
A
C
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
2
12
114791891
A
C
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
3
12
114791951
G
-A
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs35534655
-
-
-
-
-
-
het
149
4
12
114791951
G
-A
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs35534655
-
-
-
-
-
-
hom
56
5
12
114791951
G
-A
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs35534655
-
-
-
-
-
-
het
149
6
12
114791951
G
-A
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs35534655
-
-
-
-
-
-
hom
56
7
12
114792001
G
-A
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs201166554
-
-
-
-
-
-
het
6
8
12
114792001
G
-A
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs201166554
-
-
-
-
-
-
het
6
9
12
114792236
T
C
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs6489956
0.79282
-
-
-
-
-
het
59
10
12
114792236
T
C
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs6489956
0.79282
-
-
-
-
-
hom
122
11
12
114792236
T
C
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs6489956
0.79282
-
-
-
-
-
het
59
12
12
114792236
T
C
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs6489956
0.79282
-
-
-
-
-
hom
122
13
12
114792428
T
C
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs184360838
0.00735
-
-
-
-
-
het
1
14
12
114792428
T
C
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs184360838
0.00735
-
-
-
-
-
het
1
15
12
114792525
G
A
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs143511878
0.0183
-
-
-
-
-
het
8
16
12
114792525
G
A
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs143511878
0.0183
-
-
-
-
-
het
8
17
12
114792598
A
G
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs117414057
0.0101
-
-
-
-
-
het
2
18
12
114792598
A
G
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs117414057
0.0101
-
-
-
-
-
het
2
19
12
114792620
G
A
ENST00000310346
ENSG00000089225
114791736
114846247
ENSP00000309913
TBX5
-1
TBX5_HUMAN
-
-
3'_UTR
rs148346089
0.0015
-
-
-
-
-
het
1
20
12
114792620
G
A
ENST00000349716
ENSG00000089225
114791736
114846247
ENSP00000337723
TBX5
-1
-
-
-
3'_UTR
rs148346089
0.0015
-
-
-
-
-
het
1
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.
As MSeqDR registered user , your accessible protected data set after login: