MSeqDR Master Exome Data Set M1: 1012 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
14
92527297
C
T
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
rs112586446
0.07143
-
-
-
-
-
het
6
2
14
92527297
C
T
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
rs112586446
0.07143
-
-
-
-
-
hom
1
3
14
92527297
C
T
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
rs112586446
0.07143
-
-
-
-
-
het
6
4
14
92527297
C
T
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
rs112586446
0.07143
-
-
-
-
-
hom
1
5
14
92527297
C
T
ENST00000545170
ENSG00000066427
92524896
92572965
ENSP00000445618
ATXN3
-1
-
-
-
3'_UTR
rs112586446
0.07143
-
-
-
-
-
het
6
6
14
92527297
C
T
ENST00000545170
ENSG00000066427
92524896
92572965
ENSP00000445618
ATXN3
-1
-
-
-
3'_UTR
rs112586446
0.07143
-
-
-
-
-
hom
1
7
14
92527399
A
G
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
rs1055996
0.2376
-
-
-
-
-
het
75
8
14
92527399
A
G
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
rs1055996
0.2376
-
-
-
-
-
hom
11
9
14
92527399
A
G
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
rs1055996
0.2376
-
-
-
-
-
het
75
10
14
92527399
A
G
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
rs1055996
0.2376
-
-
-
-
-
hom
11
11
14
92527399
A
G
ENST00000545170
ENSG00000066427
92524896
92572965
ENSP00000445618
ATXN3
-1
-
-
-
3'_UTR
rs1055996
0.2376
-
-
-
-
-
het
75
12
14
92527399
A
G
ENST00000545170
ENSG00000066427
92524896
92572965
ENSP00000445618
ATXN3
-1
-
-
-
3'_UTR
rs1055996
0.2376
-
-
-
-
-
hom
11
13
14
92527491
C
A
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
14
14
92527491
C
A
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
15
14
92527491
C
A
ENST00000545170
ENSG00000066427
92524896
92572965
ENSP00000445618
ATXN3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
16
14
92527977
T
C
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
rs11628764
0.32601
-
-
-
-
-
hom
17
17
14
92527977
T
C
ENST00000393287
ENSG00000066427
92524896
92572965
ENSP00000376965
ATXN3
-1
ATX3_HUMAN
-
-
3'_UTR
rs11628764
0.32601
-
-
-
-
-
het
75
18
14
92527977
T
C
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
rs11628764
0.32601
-
-
-
-
-
hom
17
19
14
92527977
T
C
ENST00000429774
ENSG00000066427
92524896
92572965
ENSP00000389376
ATXN3
-1
-
-
-
3'_UTR
rs11628764
0.32601
-
-
-
-
-
het
75
20
14
92527977
T
C
ENST00000545170
ENSG00000066427
92524896
92572965
ENSP00000445618
ATXN3
-1
-
-
-
3'_UTR
rs11628764
0.32601
-
-
-
-
-
hom
17
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