MSeqDR Master Exome Data Set M1: 651 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
5
112043234
C
T
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
rs115658307
0.0127
-
-
-
-
-
het
2
2
5
112043234
C
T
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.17C>T
p.A6V
non-syn
rs115658307
0.0127
-
-
-
-
-
het
2
3
5
112043234
C
T
ENST00000507379
ENSG00000134982
112043195
112181936
ENSP00000423224
APC
1
-
-
-
5'_UTR
rs115658307
0.0127
-
-
-
-
-
het
2
4
5
112043234
C
T
ENST00000509732
ENSG00000134982
112043195
112181936
ENSP00000426541
APC
1
-
-
-
5'_UTR
rs115658307
0.0127
-
-
-
-
-
het
2
5
5
112043263
C
T
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
rs138386816
0.0137
-
lod=81:439
-
-
-
het
10
6
5
112043263
C
T
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.46C>T
p.R16W
non-syn
rs138386816
0.0137
-
lod=81:439
-
-
-
het
10
7
5
112043263
C
T
ENST00000507379
ENSG00000134982
112043195
112181936
ENSP00000423224
APC
1
-
-
-
5'_UTR
rs138386816
0.0137
-
lod=81:439
-
-
-
het
10
8
5
112043263
C
T
ENST00000509732
ENSG00000134982
112043195
112181936
ENSP00000426541
APC
1
-
-
-
5'_UTR
rs138386816
0.0137
-
lod=81:439
-
-
-
het
10
9
5
112043265
G
A
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
NA
-
-
lod=81:439
-
-
-
het
1
10
5
112043265
G
A
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.48G>A
p.R16R
syn
NA
-
-
lod=81:439
-
-
-
het
1
11
5
112043265
G
A
ENST00000507379
ENSG00000134982
112043195
112181936
ENSP00000423224
APC
1
-
-
-
5'_UTR
NA
-
-
lod=81:439
-
-
-
het
1
12
5
112043265
G
A
ENST00000509732
ENSG00000134982
112043195
112181936
ENSP00000426541
APC
1
-
-
-
5'_UTR
NA
-
-
lod=81:439
-
-
-
het
1
13
5
112043282
C
+G
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
17
14
5
112043282
C
+G
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
2
15
5
112043282
C
G
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
rs79896135
0.1153
-
-
-
-
-
het
158
16
5
112043282
C
G
ENST00000457016
ENSG00000134982
112043195
112181936
ENSP00000413133
APC
1
APC_HUMAN
-
-
5'_UTR
rs79896135
0.1153
-
-
-
-
-
hom
21
17
5
112043282
C
+G
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.65_66insG
p.S22NA
non-syn
NA
-
-
-
-
-
-
het
17
18
5
112043282
C
+G
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.65_66insG
p.S22NA
non-syn
NA
-
-
-
-
-
-
hom
2
19
5
112043282
C
G
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.65C>G
p.S22W
non-syn
rs79896135
0.1153
-
-
-
-
-
het
158
20
5
112043282
C
G
ENST00000505350
ENSG00000134982
112043195
112181936
-
APC
1
-
c.65C>G
p.S22W
non-syn
rs79896135
0.1153
-
-
-
-
-
hom
21
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