MSeqDR Master Exome Data Set M1: 538 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
16
8807140
T
+A
ENST00000396600
ENSG00000183044
8768422
8878432
ENSP00000379845
ABAT
1
GABT_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
2
16
8807140
T
+A
ENST00000566590
ENSG00000183044
8768422
8878432
ENSP00000455198
ABAT
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
3
16
8807315
C
T
ENST00000396600
ENSG00000183044
8768422
8878432
ENSP00000379845
ABAT
1
GABT_HUMAN
-
-
5'_UTR
rs7188782
0.8062
-
-
-
-
-
het
2
4
16
8807315
C
T
ENST00000396600
ENSG00000183044
8768422
8878432
ENSP00000379845
ABAT
1
GABT_HUMAN
-
-
5'_UTR
rs7188782
0.8062
-
-
-
-
-
hom
3
5
16
8807315
C
T
ENST00000563215
ENSG00000183044
8768422
8878432
-
ABAT
1
-
c.97C>T
p.L33F
non-syn
rs7188782
0.8062
-
-
-
-
-
het
2
6
16
8807315
C
T
ENST00000563215
ENSG00000183044
8768422
8878432
-
ABAT
1
-
c.97C>T
p.L33F
non-syn
rs7188782
0.8062
-
-
-
-
-
hom
3
7
16
8807315
C
T
ENST00000566590
ENSG00000183044
8768422
8878432
ENSP00000455198
ABAT
1
-
-
-
5'_UTR
rs7188782
0.8062
-
-
-
-
-
het
2
8
16
8807315
C
T
ENST00000566590
ENSG00000183044
8768422
8878432
ENSP00000455198
ABAT
1
-
-
-
5'_UTR
rs7188782
0.8062
-
-
-
-
-
hom
3
9
16
8807571
C
T
ENST00000396600
ENSG00000183044
8768422
8878432
ENSP00000379845
ABAT
1
GABT_HUMAN
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
hom
2
10
16
8807571
C
T
ENST00000396600
ENSG00000183044
8768422
8878432
ENSP00000379845
ABAT
1
GABT_HUMAN
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
het
9
11
16
8807571
C
T
ENST00000561870
ENSG00000183044
8768422
8878432
ENSP00000456267
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
hom
2
12
16
8807571
C
T
ENST00000561870
ENSG00000183044
8768422
8878432
ENSP00000456267
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
het
9
13
16
8807571
C
T
ENST00000563215
ENSG00000183044
8768422
8878432
-
ABAT
1
-
c.353C>T
p.P118L
non-syn
rs12447079
0.0578
-
-
-
-
-
hom
2
14
16
8807571
C
T
ENST00000563215
ENSG00000183044
8768422
8878432
-
ABAT
1
-
c.353C>T
p.P118L
non-syn
rs12447079
0.0578
-
-
-
-
-
het
9
15
16
8807571
C
T
ENST00000565016
ENSG00000183044
8768422
8878432
ENSP00000454415
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
hom
2
16
16
8807571
C
T
ENST00000565016
ENSG00000183044
8768422
8878432
ENSP00000454415
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
het
9
17
16
8807571
C
T
ENST00000566590
ENSG00000183044
8768422
8878432
ENSP00000455198
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
hom
2
18
16
8807571
C
T
ENST00000566590
ENSG00000183044
8768422
8878432
ENSP00000455198
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
het
9
19
16
8807571
C
T
ENST00000567812
ENSG00000183044
8768422
8878432
ENSP00000456330
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
hom
2
20
16
8807571
C
T
ENST00000567812
ENSG00000183044
8768422
8878432
ENSP00000456330
ABAT
1
-
-
-
5'_UTR
rs12447079
0.0578
-
-
-
-
-
het
9
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