MSeqDR Master Exome Data Set M1: 38 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
47881816
A
G
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
rs148499778
0.006
-
-
-
-
-
het
1
2
1
47881871
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
3
1
47881886
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
4
4
1
47881898
G
T
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
rs115705313
0.0658
-
-
-
-
-
hom
1
5
1
47881898
G
T
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
rs115705313
0.0658
-
-
-
-
-
het
26
6
1
47881907
T
+G
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
rs137862650
-
-
-
-
-
-
het
18
7
1
47881909
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
8
1
47881909
G
T
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
9
1
47881910
G
C
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
10
1
47881917
C
G
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
7
11
1
47881939
G
C
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
12
1
47881974
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
rs181190356
0.045
-
-
-
-
-
hom
1
13
1
47881974
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
rs181190356
0.045
-
-
-
-
-
het
30
14
1
47881981
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
15
1
47881981
G
C
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
16
1
47882133
G
C
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
c.146G>C
p.G49A
non-syn
NA
-
-
lod=26:317
TOLERATED
P
HGMD
het
2
17
1
47882181
G
C
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
c.194G>C
p.R65P
non-syn
NA
-
-
lod=1235:730
TOLERATED
P
-
het
2
18
1
47882398
C
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
c.411C>A
p.G137G
syn
NA
-
-
lod=1235:730
-
-
-
het
1
19
1
47882410
G
A
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
c.423G>A
p.K141K
syn
rs145081583
0.0039
A=0/G=8598;A=119/G=4287;A=119/G=12885
lod=1235:730
-
-
-
het
1
20
1
47882497
C
T
ENST00000335071
ENSG00000186790
47881744
47883723
ENSP00000334472
FOXE3
1
FOXE3_HUMAN
c.510C>T
p.A170A
syn
rs34082359
0.3846
T=2914/C=5542;T=1084/C=3226;T=3998/C=8768
lod=475:628
-
-
-
het
365
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