MSeqDR Master Exome Data Set M1: 150 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
20
25275443
G
C
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
rs147345287
0.00911
-
-
-
-
-
het
4
2
20
25275443
G
C
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
rs147345287
0.00911
-
-
-
-
-
het
4
3
20
25275467
G
T
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
4
20
25275467
G
T
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
5
20
25275510
A
-G
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
rs57215790
-
-
-
-
-
-
het
3
6
20
25275510
A
-G
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
rs57215790
-
-
-
-
-
-
het
3
7
20
25275553
G
-TTA
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
8
20
25275553
G
-TTA
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
9
20
25275553
G
-TTAGTT
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
rs145467544
-
-
-
-
-
-
het
562
10
20
25275553
G
-TTAGTT
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
rs145467544
-
-
-
-
-
-
hom
93
11
20
25275553
G
-TTAGTT
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
rs145467544
-
-
-
-
-
-
het
562
12
20
25275553
G
-TTAGTT
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
rs145467544
-
-
-
-
-
-
hom
93
13
20
25275555
T
-A
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
rs72013275
-
-
-
-
-
-
hom
1
14
20
25275555
T
-A
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
rs72013275
-
-
-
-
-
-
hom
1
15
20
25275557
G
-TTTTA
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
2
16
20
25275557
G
-TTTTA
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
2
17
20
25275561
T
-A
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
2
18
20
25275561
T
-A
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
2
19
20
25275581
C
T
ENST00000376542
ENSG00000100997
25275379
25371619
ENSP00000365725
ABHD12
-1
ABD12_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
20
20
25275581
C
T
ENST00000465694
ENSG00000100997
25275379
25371619
ENSP00000459278
ABHD12
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
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