MSeqDR Master Exome Data Set M1: 1032 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
12
1901392
T
+CTC
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5672_5673insGAG
p.R1891NA
non-syn
rs77487055
-
-
-
-
-
-
het
100
2
12
1901392
T
+CTC
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5672_5673insGAG
p.R1891NA
non-syn
rs77487055
-
-
-
-
-
-
hom
49
3
12
1901392
T
+CTC
ENST00000382722
ENSG00000151062
1901123
2028002
ENSP00000372169
CACNA2D4
-1
CA2D4_HUMAN
-
-
3'_UTR
rs77487055
-
-
-
-
-
-
het
100
4
12
1901392
T
+CTC
ENST00000382722
ENSG00000151062
1901123
2028002
ENSP00000372169
CACNA2D4
-1
CA2D4_HUMAN
-
-
3'_UTR
rs77487055
-
-
-
-
-
-
hom
49
5
12
1901392
T
+CTC
ENST00000537784
ENSG00000151062
1901123
2028002
ENSP00000440231
CACNA2D4
-1
-
-
-
3'_UTR
rs77487055
-
-
-
-
-
-
het
100
6
12
1901392
T
+CTC
ENST00000537784
ENSG00000151062
1901123
2028002
ENSP00000440231
CACNA2D4
-1
-
-
-
3'_UTR
rs77487055
-
-
-
-
-
-
hom
49
7
12
1901434
C
T
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5631G>A
p.G1877G
syn
rs13219
0.50368
-
-
-
-
-
het
98
8
12
1901434
C
T
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5631G>A
p.G1877G
syn
rs13219
0.50368
-
-
-
-
-
hom
53
9
12
1901434
C
T
ENST00000382722
ENSG00000151062
1901123
2028002
ENSP00000372169
CACNA2D4
-1
CA2D4_HUMAN
-
-
3'_UTR
rs13219
0.50368
-
-
-
-
-
het
98
10
12
1901434
C
T
ENST00000382722
ENSG00000151062
1901123
2028002
ENSP00000372169
CACNA2D4
-1
CA2D4_HUMAN
-
-
3'_UTR
rs13219
0.50368
-
-
-
-
-
hom
53
11
12
1901434
C
T
ENST00000537784
ENSG00000151062
1901123
2028002
ENSP00000440231
CACNA2D4
-1
-
-
-
3'_UTR
rs13219
0.50368
-
-
-
-
-
het
98
12
12
1901434
C
T
ENST00000537784
ENSG00000151062
1901123
2028002
ENSP00000440231
CACNA2D4
-1
-
-
-
3'_UTR
rs13219
0.50368
-
-
-
-
-
hom
53
13
12
1901485
G
T
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5580C>A
p.I1860I
syn
rs1044825
0.51916
-
-
-
-
-
het
99
14
12
1901485
G
T
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5580C>A
p.I1860I
syn
rs1044825
0.51916
-
-
-
-
-
hom
53
15
12
1901485
G
T
ENST00000382722
ENSG00000151062
1901123
2028002
ENSP00000372169
CACNA2D4
-1
CA2D4_HUMAN
-
-
3'_UTR
rs1044825
0.51916
-
-
-
-
-
het
99
16
12
1901485
G
T
ENST00000382722
ENSG00000151062
1901123
2028002
ENSP00000372169
CACNA2D4
-1
CA2D4_HUMAN
-
-
3'_UTR
rs1044825
0.51916
-
-
-
-
-
hom
53
17
12
1901485
G
T
ENST00000537784
ENSG00000151062
1901123
2028002
ENSP00000440231
CACNA2D4
-1
-
-
-
3'_UTR
rs1044825
0.51916
-
-
-
-
-
het
99
18
12
1901485
G
T
ENST00000537784
ENSG00000151062
1901123
2028002
ENSP00000440231
CACNA2D4
-1
-
-
-
3'_UTR
rs1044825
0.51916
-
-
-
-
-
hom
53
19
12
1901546
A
C
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5519T>G
p.I1840R
non-syn
rs12811035
0.16455
-
-
-
-
-
het
55
20
12
1901546
A
C
ENST00000280663
ENSG00000151062
1901123
2028002
-
CACNA2D4
-1
-
c.5519T>G
p.I1840R
non-syn
rs12811035
0.16455
-
-
-
-
-
hom
12
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