MSeqDR Master Exome Data Set M1: 592 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
135136911
T
C
ENST00000224140
ENSG00000107290
135136743
135230372
ENSP00000224140
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
2
9
135136911
T
C
ENST00000372169
ENSG00000107290
135136743
135230372
ENSP00000361242
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
3
9
135136911
T
C
ENST00000393220
ENSG00000107290
135136743
135230372
ENSP00000376913
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
4
9
135136911
T
C
ENST00000436441
ENSG00000107290
135136743
135230372
ENSP00000409143
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
5
9
135136911
T
C
ENST00000477049
ENSG00000107290
135136743
135230372
-
SETX
-1
-
c.3899A>G
p.N1300S
non-syn
NA
-
-
-
-
-
-
het
1
6
9
135137030
T
C
ENST00000224140
ENSG00000107290
135136743
135230372
ENSP00000224140
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
2
7
9
135137030
T
C
ENST00000372169
ENSG00000107290
135136743
135230372
ENSP00000361242
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
2
8
9
135137030
T
C
ENST00000393220
ENSG00000107290
135136743
135230372
ENSP00000376913
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
2
9
9
135137030
T
C
ENST00000436441
ENSG00000107290
135136743
135230372
ENSP00000409143
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
2
10
9
135137030
T
C
ENST00000477049
ENSG00000107290
135136743
135230372
-
SETX
-1
-
c.3780A>G
p.L1260L
syn
NA
-
-
lod=89:449
-
-
-
het
2
11
9
135137047
C
T
ENST00000224140
ENSG00000107290
135136743
135230372
ENSP00000224140
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
1
12
9
135137047
C
T
ENST00000372169
ENSG00000107290
135136743
135230372
ENSP00000361242
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
1
13
9
135137047
C
T
ENST00000393220
ENSG00000107290
135136743
135230372
ENSP00000376913
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
1
14
9
135137047
C
T
ENST00000436441
ENSG00000107290
135136743
135230372
ENSP00000409143
SETX
-1
SETX_HUMAN
-
-
3'_UTR
NA
-
-
lod=89:449
-
-
-
het
1
15
9
135137047
C
T
ENST00000477049
ENSG00000107290
135136743
135230372
-
SETX
-1
-
c.3763G>A
p.V1255I
non-syn
NA
-
-
lod=89:449
-
-
-
het
1
16
9
135137364
T
C
ENST00000224140
ENSG00000107290
135136743
135230372
ENSP00000224140
SETX
-1
SETX_HUMAN
-
-
3'_UTR
rs997784
0.1268
-
-
-
-
-
het
134
17
9
135137364
T
C
ENST00000224140
ENSG00000107290
135136743
135230372
ENSP00000224140
SETX
-1
SETX_HUMAN
-
-
3'_UTR
rs997784
0.1268
-
-
-
-
-
hom
4
18
9
135137364
T
C
ENST00000372169
ENSG00000107290
135136743
135230372
ENSP00000361242
SETX
-1
SETX_HUMAN
-
-
3'_UTR
rs997784
0.1268
-
-
-
-
-
het
134
19
9
135137364
T
C
ENST00000372169
ENSG00000107290
135136743
135230372
ENSP00000361242
SETX
-1
SETX_HUMAN
-
-
3'_UTR
rs997784
0.1268
-
-
-
-
-
hom
4
20
9
135137364
T
C
ENST00000393220
ENSG00000107290
135136743
135230372
ENSP00000376913
SETX
-1
SETX_HUMAN
-
-
3'_UTR
rs997784
0.1268
-
-
-
-
-
het
134
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