MSeqDR Master Exome Data Set M1: 282 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
17
43513441
C
T
ENST00000421073
ENSG00000225190
43513266
43568115
ENSP00000414352
PLEKHM1
-1
-
-
-
3'_UTR
rs11012
0.16897
-
-
TOLERATED
-
HGMD
het
187
2
17
43513441
C
T
ENST00000421073
ENSG00000225190
43513266
43568115
ENSP00000414352
PLEKHM1
-1
-
-
-
3'_UTR
rs11012
0.16897
-
-
TOLERATED
-
HGMD
hom
19
3
17
43513441
C
T
ENST00000430334
ENSG00000225190
43513266
43568115
ENSP00000389913
PLEKHM1
-1
PKHM1_HUMAN
-
-
3'_UTR
rs11012
0.16897
-
-
TOLERATED
-
HGMD
het
187
4
17
43513441
C
T
ENST00000430334
ENSG00000225190
43513266
43568115
ENSP00000389913
PLEKHM1
-1
PKHM1_HUMAN
-
-
3'_UTR
rs11012
0.16897
-
-
TOLERATED
-
HGMD
hom
19
5
17
43513441
C
T
ENST00000579197
ENSG00000225190
43513266
43568115
ENSP00000462282
PLEKHM1
-1
-
-
-
3'_UTR
rs11012
0.16897
-
-
TOLERATED
-
HGMD
het
187
6
17
43513441
C
T
ENST00000579197
ENSG00000225190
43513266
43568115
ENSP00000462282
PLEKHM1
-1
-
-
-
3'_UTR
rs11012
0.16897
-
-
TOLERATED
-
HGMD
hom
19
7
17
43513441
C
T
ENST00000580404
ENSG00000225190
43513266
43568115
-
PLEKHM1
-1
-
c.2456G>A
p.R819H
non-syn
rs11012
0.16897
-
-
TOLERATED
-
HGMD
het
187
8
17
43513441
C
T
ENST00000580404
ENSG00000225190
43513266
43568115
-
PLEKHM1
-1
-
c.2456G>A
p.R819H
non-syn
rs11012
0.16897
-
-
TOLERATED
-
HGMD
hom
19
9
17
43513518
C
T
ENST00000421073
ENSG00000225190
43513266
43568115
ENSP00000414352
PLEKHM1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
17
43513518
C
T
ENST00000430334
ENSG00000225190
43513266
43568115
ENSP00000389913
PLEKHM1
-1
PKHM1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
17
43513518
C
T
ENST00000579197
ENSG00000225190
43513266
43568115
ENSP00000462282
PLEKHM1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
12
17
43513518
C
T
ENST00000580404
ENSG00000225190
43513266
43568115
-
PLEKHM1
-1
-
c.2379G>A
p.S793S
syn
NA
-
-
-
-
-
-
het
1
13
17
43513523
G
A
ENST00000421073
ENSG00000225190
43513266
43568115
ENSP00000414352
PLEKHM1
-1
-
-
-
3'_UTR
NA
-
-
-
TOLERATED
-
-
het
1
14
17
43513523
G
A
ENST00000430334
ENSG00000225190
43513266
43568115
ENSP00000389913
PLEKHM1
-1
PKHM1_HUMAN
-
-
3'_UTR
NA
-
-
-
TOLERATED
-
-
het
1
15
17
43513523
G
A
ENST00000579197
ENSG00000225190
43513266
43568115
ENSP00000462282
PLEKHM1
-1
-
-
-
3'_UTR
NA
-
-
-
TOLERATED
-
-
het
1
16
17
43513523
G
A
ENST00000580404
ENSG00000225190
43513266
43568115
-
PLEKHM1
-1
-
c.2374C>T
p.P792S
non-syn
NA
-
-
-
TOLERATED
-
-
het
1
17
17
43513551
C
G
ENST00000421073
ENSG00000225190
43513266
43568115
ENSP00000414352
PLEKHM1
-1
-
-
-
3'_UTR
rs9730
0.1883
-
-
-
-
-
het
134
18
17
43513551
C
G
ENST00000421073
ENSG00000225190
43513266
43568115
ENSP00000414352
PLEKHM1
-1
-
-
-
3'_UTR
rs9730
0.1883
-
-
-
-
-
hom
22
19
17
43513551
C
G
ENST00000430334
ENSG00000225190
43513266
43568115
ENSP00000389913
PLEKHM1
-1
PKHM1_HUMAN
-
-
3'_UTR
rs9730
0.1883
-
-
-
-
-
het
134
20
17
43513551
C
G
ENST00000430334
ENSG00000225190
43513266
43568115
ENSP00000389913
PLEKHM1
-1
PKHM1_HUMAN
-
-
3'_UTR
rs9730
0.1883
-
-
-
-
-
hom
22
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