MSeqDR Master Exome Data Set M1: 509 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
16
88880146
G
C
ENST00000268695
ENSG00000141012
88880142
88923378
ENSP00000268695
GALNS
-1
GALNS_HUMAN
-
-
3'_UTR
rs77936719
0.4174
-
-
-
-
-
hom
62
2
16
88880146
G
C
ENST00000268695
ENSG00000141012
88880142
88923378
ENSP00000268695
GALNS
-1
GALNS_HUMAN
-
-
3'_UTR
rs77936719
0.4174
-
-
-
-
-
het
230
3
16
88880146
G
C
ENST00000542788
ENSG00000141012
88880142
88923378
ENSP00000438197
GALNS
-1
-
-
-
3'_UTR
rs77936719
0.4174
-
-
-
-
-
hom
62
4
16
88880146
G
C
ENST00000542788
ENSG00000141012
88880142
88923378
ENSP00000438197
GALNS
-1
-
-
-
3'_UTR
rs77936719
0.4174
-
-
-
-
-
het
230
5
16
88880146
G
C
ENST00000562593
ENSG00000141012
88880142
88923378
-
GALNS
-1
-
c.5679C>G
p.S1893R
non-syn
rs77936719
0.4174
-
-
-
-
-
hom
62
6
16
88880146
G
C
ENST00000562593
ENSG00000141012
88880142
88923378
-
GALNS
-1
-
c.5679C>G
p.S1893R
non-syn
rs77936719
0.4174
-
-
-
-
-
het
230
7
16
88880146
G
C
ENST00000567525
ENSG00000141012
88880142
88923378
ENSP00000454484
GALNS
-1
-
-
-
3'_UTR
rs77936719
0.4174
-
-
-
-
-
hom
62
8
16
88880146
G
C
ENST00000567525
ENSG00000141012
88880142
88923378
ENSP00000454484
GALNS
-1
-
-
-
3'_UTR
rs77936719
0.4174
-
-
-
-
-
het
230
9
16
88880164
C
T
ENST00000268695
ENSG00000141012
88880142
88923378
ENSP00000268695
GALNS
-1
GALNS_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
16
88880164
C
T
ENST00000542788
ENSG00000141012
88880142
88923378
ENSP00000438197
GALNS
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
16
88880164
C
T
ENST00000562593
ENSG00000141012
88880142
88923378
-
GALNS
-1
-
c.5661G>A
p.Q1887Q
syn
NA
-
-
-
-
-
-
het
1
12
16
88880164
C
T
ENST00000567525
ENSG00000141012
88880142
88923378
ENSP00000454484
GALNS
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
16
88880195
T
C
ENST00000268695
ENSG00000141012
88880142
88923378
ENSP00000268695
GALNS
-1
GALNS_HUMAN
-
-
3'_UTR
rs1135366
0.4188
-
-
-
-
-
het
243
14
16
88880195
T
C
ENST00000268695
ENSG00000141012
88880142
88923378
ENSP00000268695
GALNS
-1
GALNS_HUMAN
-
-
3'_UTR
rs1135366
0.4188
-
-
-
-
-
hom
62
15
16
88880195
T
C
ENST00000542788
ENSG00000141012
88880142
88923378
ENSP00000438197
GALNS
-1
-
-
-
3'_UTR
rs1135366
0.4188
-
-
-
-
-
het
243
16
16
88880195
T
C
ENST00000542788
ENSG00000141012
88880142
88923378
ENSP00000438197
GALNS
-1
-
-
-
3'_UTR
rs1135366
0.4188
-
-
-
-
-
hom
62
17
16
88880195
T
C
ENST00000562593
ENSG00000141012
88880142
88923378
-
GALNS
-1
-
c.5630A>G
p.N1877S
non-syn
rs1135366
0.4188
-
-
-
-
-
het
243
18
16
88880195
T
C
ENST00000562593
ENSG00000141012
88880142
88923378
-
GALNS
-1
-
c.5630A>G
p.N1877S
non-syn
rs1135366
0.4188
-
-
-
-
-
hom
62
19
16
88880195
T
C
ENST00000567525
ENSG00000141012
88880142
88923378
ENSP00000454484
GALNS
-1
-
-
-
3'_UTR
rs1135366
0.4188
-
-
-
-
-
het
243
20
16
88880195
T
C
ENST00000567525
ENSG00000141012
88880142
88923378
ENSP00000454484
GALNS
-1
-
-
-
3'_UTR
rs1135366
0.4188
-
-
-
-
-
hom
62
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.
As MSeqDR registered user , your accessible protected data set after login: