MSeqDR Master Exome Data Set M1: 301 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
110834110
A
G
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs4444903
0.6347
-
-
-
-
Malignant melanoma, association with
het
309
2
4
110834110
A
G
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs4444903
0.6347
-
-
-
-
Malignant melanoma, association with
hom
120
3
4
110834110
A
G
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs4444903
0.6347
-
-
-
-
Malignant melanoma, association with
het
309
4
4
110834110
A
G
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs4444903
0.6347
-
-
-
-
Malignant melanoma, association with
hom
120
5
4
110834116
A
G
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
lod=21:295
-
-
-
het
1
6
4
110834116
A
G
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
lod=21:295
-
-
-
het
1
7
4
110834150
C
T
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs11568847
0.0313
-
-
-
-
-
het
1
8
4
110834150
C
T
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs11568847
0.0313
-
-
-
-
-
het
1
9
4
110834222
T
G
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
10
4
110834222
T
G
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
11
4
110834264
G
C
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
12
4
110834264
G
C
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
13
4
110834351
C
G
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
14
4
110834351
C
G
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
15
4
110834390
G
A
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs11568848
-
-
-
-
-
-
het
4
16
4
110834390
G
A
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs11568848
-
-
-
-
-
-
het
4
17
4
110834432
C
T
ENST00000265171
ENSG00000138798
110834040
110933422
ENSP00000265171
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs191144589
0.00288
-
-
-
-
-
het
2
18
4
110834432
C
T
ENST00000503392
ENSG00000138798
110834040
110933422
ENSP00000421384
EGF
1
-
-
-
5'_UTR
rs191144589
0.00288
-
-
-
-
-
het
2
19
4
110834432
C
T
ENST00000509793
ENSG00000138798
110834040
110933422
ENSP00000424316
EGF
1
EGF_HUMAN
-
-
5'_UTR
rs191144589
0.00288
-
-
-
-
-
het
2
20
4
110862023
G
A
ENST00000502723
ENSG00000138798
110834040
110933422
-
EGF
1
-
c.92G>A
p.W31*
non-syn
rs10029765
0.0389
-
-
-
-
-
het
5
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