MSeqDR Master Exome Data Set M1: 86 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
71650333
T
A
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
-
-
5'_UTR
rs141291061
0.0221
-
-
-
-
-
het
20
2
9
71650415
G
A
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
3
9
71650495
G
A
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
-
-
5'_UTR
rs73647059
0.0082
-
-
-
-
-
het
2
4
9
71650495
G
A
ENST00000396364
ENSG00000165060
71650175
71715094
ENSP00000379650
FXN
1
FRDA_HUMAN
-
-
5'_UTR
rs73647059
0.0082
-
-
-
-
-
het
2
5
9
71650692
G
A
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
-
-
5'_UTR
rs145006100
0.0179
-
-
-
-
-
het
19
6
9
71650692
G
A
ENST00000396364
ENSG00000165060
71650175
71715094
ENSP00000379650
FXN
1
FRDA_HUMAN
-
-
5'_UTR
rs145006100
0.0179
-
-
-
-
-
het
19
7
9
71650692
G
A
ENST00000396366
ENSG00000165060
71650175
71715094
ENSP00000379652
FXN
1
-
-
-
5'_UTR
rs145006100
0.0179
-
-
-
-
-
het
19
8
9
71650752
A
G
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
c.54A>G
p.P18P
syn
rs2481598
1
-
-
-
-
-
het
7
9
9
71650752
A
G
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
c.54A>G
p.P18P
syn
rs2481598
1
-
-
-
-
-
hom
640
10
9
71650752
A
G
ENST00000396364
ENSG00000165060
71650175
71715094
ENSP00000379650
FXN
1
FRDA_HUMAN
c.54A>G
p.P18P
syn
rs2481598
1
-
-
-
-
-
het
7
11
9
71650752
A
G
ENST00000396364
ENSG00000165060
71650175
71715094
ENSP00000379650
FXN
1
FRDA_HUMAN
c.54A>G
p.P18P
syn
rs2481598
1
-
-
-
-
-
hom
640
12
9
71650752
A
G
ENST00000396366
ENSG00000165060
71650175
71715094
ENSP00000379652
FXN
1
-
c.54A>G
p.P18P
syn
rs2481598
1
-
-
-
-
-
het
7
13
9
71650752
A
G
ENST00000396366
ENSG00000165060
71650175
71715094
ENSP00000379652
FXN
1
-
c.54A>G
p.P18P
syn
rs2481598
1
-
-
-
-
-
hom
640
14
9
71650795
T
G
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
c.97T>G
p.L33V
non-syn
NA
-
-
-
TOLERATED
B
-
het
2
15
9
71650795
T
G
ENST00000396364
ENSG00000165060
71650175
71715094
ENSP00000379650
FXN
1
FRDA_HUMAN
c.97T>G
p.L33V
non-syn
NA
-
-
-
TOLERATED
B
-
het
2
16
9
71650795
T
G
ENST00000396366
ENSG00000165060
71650175
71715094
ENSP00000379652
FXN
1
-
c.97T>G
p.L33V
non-syn
NA
-
-
-
TOLERATED
B
-
het
2
17
9
71661361
A
G
ENST00000377270
ENSG00000165060
71650175
71715094
ENSP00000366482
FXN
1
FRDA_HUMAN
c.226A>G
p.M76V
non-syn
rs59907886
0.0145
G=0/A=8600;G=191/A=4215;G=191/A=12815
-
TOLERATED
B
-
het
3
18
9
71661361
A
G
ENST00000396364
ENSG00000165060
71650175
71715094
ENSP00000379650
FXN
1
FRDA_HUMAN
c.226A>G
p.M76V
non-syn
rs59907886
0.0145
G=0/A=8600;G=191/A=4215;G=191/A=12815
-
TOLERATED
B
-
het
3
19
9
71661361
A
G
ENST00000396366
ENSG00000165060
71650175
71715094
ENSP00000379652
FXN
1
-
c.226A>G
p.M76V
non-syn
rs59907886
0.0145
G=0/A=8600;G=191/A=4215;G=191/A=12815
-
TOLERATED
B
-
het
3
20
9
71661361
A
G
ENST00000484259
ENSG00000165060
71650175
71715094
ENSP00000419243
FXN
1
-
c.39A>G
p.*13W
non-syn
rs59907886
0.0145
G=0/A=8600;G=191/A=4215;G=191/A=12815
-
TOLERATED
B
-
het
3
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