MSeqDR Master Exome Data Set M1: 93 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
9
37780099
T
-ATA
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs34753153
-
-
-
-
-
-
het
39
2
9
37780099
T
-ATA
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs34753153
-
-
-
-
-
-
hom
1
3
9
37780121
T
G
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs188744146
0.0021
-
-
-
-
-
het
1
4
9
37780294
G
A
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
5
9
37780294
G
A
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
6
9
37780322
G
T
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
7
9
37780322
G
T
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
8
9
37780380
A
G
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs138197600
0.01356
-
-
-
-
-
het
10
9
9
37780380
A
G
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs138197600
0.01356
-
-
-
-
-
het
10
10
9
37780479
G
A
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs117073203
0.0247
-
-
-
-
-
het
32
11
9
37780479
G
A
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs117073203
0.0247
-
-
-
-
-
het
32
12
9
37780558
C
A
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs1059059
0.2833
-
-
-
-
-
het
271
13
9
37780558
C
A
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs1059059
0.2833
-
-
-
-
-
hom
27
14
9
37780558
C
A
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs1059059
0.2833
-
-
-
-
-
het
271
15
9
37780558
C
A
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs1059059
0.2833
-
-
-
-
-
hom
27
16
9
37780831
A
G
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
c.673T>C
p.Y225H
non-syn
rs3208406
0.08485
G=848/A=7752;G=89/A=4317;G=937/A=12069
lod=716:672
TOLERATED
D
-
het
134
17
9
37780831
A
G
ENST00000327304
ENSG00000107371
37766975
37801434
ENSP00000323046
EXOSC3
-1
EXOS3_HUMAN
c.673T>C
p.Y225H
non-syn
rs3208406
0.08485
G=848/A=7752;G=89/A=4317;G=937/A=12069
lod=716:672
TOLERATED
D
-
hom
7
18
9
37780831
A
G
ENST00000396521
ENSG00000107371
37766975
37801434
ENSP00000379775
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs3208406
0.08485
G=848/A=7752;G=89/A=4317;G=937/A=12069
lod=716:672
TOLERATED
D
-
het
134
19
9
37780831
A
G
ENST00000396521
ENSG00000107371
37766975
37801434
ENSP00000379775
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs3208406
0.08485
G=848/A=7752;G=89/A=4317;G=937/A=12069
lod=716:672
TOLERATED
D
-
hom
7
20
9
37780831
A
G
ENST00000465229
ENSG00000107371
37766975
37801434
ENSP00000418422
EXOSC3
-1
EXOS3_HUMAN
-
-
3'_UTR
rs3208406
0.08485
G=848/A=7752;G=89/A=4317;G=937/A=12069
lod=716:672
TOLERATED
D
-
het
134
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