MSeqDR Master Exome Data Set M1: 338 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
8
90945598
C
T
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs10464867
0.141
-
-
-
-
-
het
33
2
8
90945598
C
T
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs10464867
0.141
-
-
-
-
-
hom
2
3
8
90945598
C
T
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs10464867
0.141
-
-
-
-
-
het
33
4
8
90945598
C
T
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs10464867
0.141
-
-
-
-
-
hom
2
5
8
90945681
C
A
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs117807915
0.00551
-
-
-
-
-
het
15
6
8
90945681
C
A
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs117807915
0.00551
-
-
-
-
-
het
15
7
8
90945751
T
G
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
8
8
90945751
T
G
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
9
8
90945751
T
G
ENST00000409330
ENSG00000104320
90945564
91015456
ENSP00000386924
NBN
-1
NBN_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
8
90945833
A
G
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs14448
0.3918
-
-
-
-
-
hom
13
11
8
90945833
A
G
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs14448
0.3918
-
-
-
-
-
het
106
12
8
90945833
A
G
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs14448
0.3918
-
-
-
-
-
hom
13
13
8
90945833
A
G
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs14448
0.3918
-
-
-
-
-
het
106
14
8
90945833
A
G
ENST00000409330
ENSG00000104320
90945564
91015456
ENSP00000386924
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs14448
0.3918
-
-
-
-
-
hom
13
15
8
90945833
A
G
ENST00000409330
ENSG00000104320
90945564
91015456
ENSP00000386924
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs14448
0.3918
-
-
-
-
-
het
106
16
8
90945849
A
G
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs13312987
0.1827
-
-
-
-
-
het
13
17
8
90945849
A
G
ENST00000265433
ENSG00000104320
90945564
91015456
ENSP00000265433
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs13312987
0.1827
-
-
-
-
-
hom
2
18
8
90945849
A
G
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs13312987
0.1827
-
-
-
-
-
het
13
19
8
90945849
A
G
ENST00000396252
ENSG00000104320
90945564
91015456
ENSP00000379551
NBN
-1
-
-
-
3'_UTR
rs13312987
0.1827
-
-
-
-
-
hom
2
20
8
90945849
A
G
ENST00000409330
ENSG00000104320
90945564
91015456
ENSP00000386924
NBN
-1
NBN_HUMAN
-
-
3'_UTR
rs13312987
0.1827
-
-
-
-
-
het
13
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