MSeqDR Master Exome Data Set M1: 8 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
1
155112657
G
A
ENST00000341298
ENSG00000179085
155112367
155113071
ENSP00000344338
DPM3
-1
DPM3_HUMAN
c.60C>T
p.A20A
syn
NA
-
-
lod=71:425
-
-
-
het
2
2
1
155112657
G
A
ENST00000368399
ENSG00000179085
155112367
155113071
ENSP00000357384
DPM3
-1
DPM3_HUMAN
c.150C>T
p.A50A
syn
NA
-
-
lod=71:425
-
-
-
het
2
3
1
155112657
G
A
ENST00000368400
ENSG00000179085
155112367
155113071
ENSP00000357385
DPM3
-1
DPM3_HUMAN
c.60C>T
p.A20A
syn
NA
-
-
lod=71:425
-
-
-
het
2
4
1
155112763
G
C
ENST00000341298
ENSG00000179085
155112367
155113071
ENSP00000344338
DPM3
-1
DPM3_HUMAN
-
-
-16bp 3'_splice_site
NA
-
-
-
DAMAGING
NA
-
het
1
5
1
155112763
G
C
ENST00000368399
ENSG00000179085
155112367
155113071
ENSP00000357384
DPM3
-1
DPM3_HUMAN
c.44C>G
p.S15C
non-syn
NA
-
-
-
DAMAGING
NA
-
het
1
6
1
155112842
C
T
ENST00000368399
ENSG00000179085
155112367
155113071
ENSP00000357384
DPM3
-1
DPM3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
7
1
155113004
T
C
ENST00000341298
ENSG00000179085
155112367
155113071
ENSP00000344338
DPM3
-1
DPM3_HUMAN
-
-
5'_UTR
rs41264901
-
-
-
-
-
-
het
3
8
1
155113004
T
C
ENST00000368400
ENSG00000179085
155112367
155113071
ENSP00000357385
DPM3
-1
DPM3_HUMAN
-
-
5'_UTR
rs41264901
-
-
-
-
-
-
het
3
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