MSeqDR Master Exome Data Set M1: 103 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
1
24128400
T
C
ENST00000235958
ENSG00000117305
24128375
24165110
ENSP00000235958
HMGCL
-1
-
-
-
3'_UTR
NA
-
-
lod=16:265
-
-
-
het
2
2
1
24128400
T
C
ENST00000374483
ENSG00000117305
24128375
24165110
ENSP00000363607
HMGCL
-1
-
-
-
3'_UTR
NA
-
-
lod=16:265
-
-
-
het
2
3
1
24128400
T
C
ENST00000374487
ENSG00000117305
24128375
24165110
ENSP00000363611
HMGCL
-1
-
-
-
3'_UTR
NA
-
-
lod=16:265
-
-
-
het
2
4
1
24128400
T
C
ENST00000374490
ENSG00000117305
24128375
24165110
ENSP00000363614
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
NA
-
-
lod=16:265
-
-
-
het
2
5
1
24128400
T
C
ENST00000436439
ENSG00000117305
24128375
24165110
ENSP00000389281
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
NA
-
-
lod=16:265
-
-
-
het
2
6
1
24128467
C
T
ENST00000235958
ENSG00000117305
24128375
24165110
ENSP00000235958
HMGCL
-1
-
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
het
123
7
1
24128467
C
T
ENST00000235958
ENSG00000117305
24128375
24165110
ENSP00000235958
HMGCL
-1
-
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
hom
531
8
1
24128467
C
T
ENST00000374483
ENSG00000117305
24128375
24165110
ENSP00000363607
HMGCL
-1
-
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
het
123
9
1
24128467
C
T
ENST00000374483
ENSG00000117305
24128375
24165110
ENSP00000363607
HMGCL
-1
-
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
hom
531
10
1
24128467
C
T
ENST00000374487
ENSG00000117305
24128375
24165110
ENSP00000363611
HMGCL
-1
-
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
het
123
11
1
24128467
C
T
ENST00000374487
ENSG00000117305
24128375
24165110
ENSP00000363611
HMGCL
-1
-
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
hom
531
12
1
24128467
C
T
ENST00000374490
ENSG00000117305
24128375
24165110
ENSP00000363614
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
het
123
13
1
24128467
C
T
ENST00000374490
ENSG00000117305
24128375
24165110
ENSP00000363614
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
hom
531
14
1
24128467
C
T
ENST00000436439
ENSG00000117305
24128375
24165110
ENSP00000389281
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
het
123
15
1
24128467
C
T
ENST00000436439
ENSG00000117305
24128375
24165110
ENSP00000389281
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
rs11714
0.91475
-
-
-
-
-
hom
531
16
1
24128495
C
T
ENST00000235958
ENSG00000117305
24128375
24165110
ENSP00000235958
HMGCL
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
17
1
24128495
C
T
ENST00000374483
ENSG00000117305
24128375
24165110
ENSP00000363607
HMGCL
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
18
1
24128495
C
T
ENST00000374487
ENSG00000117305
24128375
24165110
ENSP00000363611
HMGCL
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
19
1
24128495
C
T
ENST00000374490
ENSG00000117305
24128375
24165110
ENSP00000363614
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
20
1
24128495
C
T
ENST00000436439
ENSG00000117305
24128375
24165110
ENSP00000389281
HMGCL
-1
HMGCL_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
** 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: