MSeqDR Master Exome Data Set M1: 112 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
4
84185015
T
A
ENST00000311469
ENSG00000173085
84182689
84206067
ENSP00000310873
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs145801680
0.01243
-
-
-
-
-
het
19
2
4
84185015
T
A
ENST00000311469
ENSG00000173085
84182689
84206067
ENSP00000310873
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs145801680
0.01243
-
-
-
-
-
hom
1
3
4
84185015
T
A
ENST00000439031
ENSG00000173085
84182689
84206067
ENSP00000409275
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs145801680
0.01243
-
-
-
-
-
het
19
4
4
84185015
T
A
ENST00000439031
ENSG00000173085
84182689
84206067
ENSP00000409275
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs145801680
0.01243
-
-
-
-
-
hom
1
5
4
84185015
T
A
ENST00000503915
ENSG00000173085
84182689
84206067
ENSP00000427146
COQ2
-1
-
-
-
3'_UTR
rs145801680
0.01243
-
-
-
-
-
het
19
6
4
84185015
T
A
ENST00000503915
ENSG00000173085
84182689
84206067
ENSP00000427146
COQ2
-1
-
-
-
3'_UTR
rs145801680
0.01243
-
-
-
-
-
hom
1
7
4
84185084
G
A
ENST00000311469
ENSG00000173085
84182689
84206067
ENSP00000310873
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs189311409
0.0014
-
-
-
-
-
het
1
8
4
84185084
G
A
ENST00000439031
ENSG00000173085
84182689
84206067
ENSP00000409275
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs189311409
0.0014
-
-
-
-
-
het
1
9
4
84185084
G
A
ENST00000503915
ENSG00000173085
84182689
84206067
ENSP00000427146
COQ2
-1
-
-
-
3'_UTR
rs189311409
0.0014
-
-
-
-
-
het
1
10
4
84185201
T
C
ENST00000311469
ENSG00000173085
84182689
84206067
ENSP00000310873
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
4
84185201
T
C
ENST00000439031
ENSG00000173085
84182689
84206067
ENSP00000409275
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
12
4
84185201
T
C
ENST00000503915
ENSG00000173085
84182689
84206067
ENSP00000427146
COQ2
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
4
84185299
C
T
ENST00000311469
ENSG00000173085
84182689
84206067
ENSP00000310873
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs143771689
0.01841
-
-
-
-
-
het
18
14
4
84185299
C
T
ENST00000439031
ENSG00000173085
84182689
84206067
ENSP00000409275
COQ2
-1
COQ2_HUMAN
-
-
3'_UTR
rs143771689
0.01841
-
-
-
-
-
het
18
15
4
84185299
C
T
ENST00000503915
ENSG00000173085
84182689
84206067
ENSP00000427146
COQ2
-1
-
-
-
3'_UTR
rs143771689
0.01841
-
-
-
-
-
het
18
16
4
84185440
A
G
ENST00000311469
ENSG00000173085
84182689
84206067
ENSP00000310873
COQ2
-1
COQ2_HUMAN
c.1178T>C
p.V393A
non-syn
rs148156462
0.0099
-
-
DAMAGING
-
-
het
1
17
4
84185440
A
G
ENST00000439031
ENSG00000173085
84182689
84206067
ENSP00000409275
COQ2
-1
COQ2_HUMAN
c.1067T>C
p.V356A
non-syn
rs148156462
0.0099
-
-
DAMAGING
-
-
het
1
18
4
84185440
A
G
ENST00000503915
ENSG00000173085
84182689
84206067
ENSP00000427146
COQ2
-1
-
-
-
3'_UTR
rs148156462
0.0099
-
-
DAMAGING
-
-
het
1
19
4
84187969
C
T
ENST00000311461
ENSG00000173085
84182689
84206067
ENSP00000311835
COQ2
-1
-
-
-
3'_UTR
rs115959028
0.00275
-
-
-
-
-
het
5
20
4
84188073
A
G
ENST00000311461
ENSG00000173085
84182689
84206067
ENSP00000311835
COQ2
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
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