MSeqDR Master Exome Data Set M1: 146 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
X
64136374
G
A
ENST00000337990
ENSG00000126970
64136250
64254593
ENSP00000338650
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
het
21
2
X
64136374
G
A
ENST00000337990
ENSG00000126970
64136250
64254593
ENSP00000338650
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
hom
15
3
X
64136374
G
A
ENST00000374839
ENSG00000126970
64136250
64254593
ENSP00000363972
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
het
21
4
X
64136374
G
A
ENST00000374839
ENSG00000126970
64136250
64254593
ENSP00000363972
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
hom
15
5
X
64136374
G
A
ENST00000447788
ENSG00000126970
64136250
64254593
ENSP00000399126
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
het
21
6
X
64136374
G
A
ENST00000447788
ENSG00000126970
64136250
64254593
ENSP00000399126
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
hom
15
7
X
64136374
G
A
ENST00000488608
ENSG00000126970
64136250
64254593
-
ZC4H2
-1
-
c.4141C>T
p.L1381F
non-syn
rs17301297
0.01919
-
-
-
-
-
het
21
8
X
64136374
G
A
ENST00000488608
ENSG00000126970
64136250
64254593
-
ZC4H2
-1
-
c.4141C>T
p.L1381F
non-syn
rs17301297
0.01919
-
-
-
-
-
hom
15
9
X
64136374
G
A
ENST00000545618
ENSG00000126970
64136250
64254593
ENSP00000440840
ZC4H2
-1
-
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
het
21
10
X
64136374
G
A
ENST00000545618
ENSG00000126970
64136250
64254593
ENSP00000440840
ZC4H2
-1
-
-
-
3'_UTR
rs17301297
0.01919
-
-
-
-
-
hom
15
11
X
64136459
C
A
ENST00000337990
ENSG00000126970
64136250
64254593
ENSP00000338650
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
12
X
64136459
C
A
ENST00000374839
ENSG00000126970
64136250
64254593
ENSP00000363972
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
X
64136459
C
A
ENST00000447788
ENSG00000126970
64136250
64254593
ENSP00000399126
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
14
X
64136459
C
A
ENST00000488608
ENSG00000126970
64136250
64254593
-
ZC4H2
-1
-
c.4056G>T
p.W1352C
non-syn
NA
-
-
-
-
-
-
het
1
15
X
64136459
C
A
ENST00000545618
ENSG00000126970
64136250
64254593
ENSP00000440840
ZC4H2
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
16
X
64136689
G
C
ENST00000337990
ENSG00000126970
64136250
64254593
ENSP00000338650
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs41326649
0.2027
-
-
-
-
-
het
5
17
X
64136689
G
C
ENST00000337990
ENSG00000126970
64136250
64254593
ENSP00000338650
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs41326649
0.2027
-
-
-
-
-
hom
5
18
X
64136689
G
C
ENST00000374839
ENSG00000126970
64136250
64254593
ENSP00000363972
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs41326649
0.2027
-
-
-
-
-
het
5
19
X
64136689
G
C
ENST00000374839
ENSG00000126970
64136250
64254593
ENSP00000363972
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs41326649
0.2027
-
-
-
-
-
hom
5
20
X
64136689
G
C
ENST00000447788
ENSG00000126970
64136250
64254593
ENSP00000399126
ZC4H2
-1
ZC4H2_HUMAN
-
-
3'_UTR
rs41326649
0.2027
-
-
-
-
-
het
5
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