MSeqDR Master Exome Data Set M1: 12 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
68548770
C
T
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
3'_UTR
rs55991209
0.0266
-
-
-
-
-
het
2
2
12
68549032
T
-TTGA
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
3'_UTR
rs137854903
-
-
-
-
-
-
het
4
3
12
68549203
G
A
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
c.431C>T
p.S144L
non-syn
NA
-
-
-
TOLERATED
B
-
het
1
4
12
68549237
T
C
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
c.397A>G
p.I133V
non-syn
NA
-
-
-
TOLERATED
B
-
het
1
5
12
68551774
G
A
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
c.285C>T
p.T95T
syn
rs142375196
-
A=3/G=8597;A=0/G=4404;A=3/G=13001
-
-
-
-
het
1
6
12
68552041
T
-AA
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
-2bp 3'_splice_site
rs79723178
-
-
lod=21:295
-
-
-
het
188
7
12
68552041
T
-A
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
-2bp 3'_splice_site
rs2234686
-
-
lod=21:295
-
-
-
het
855
8
12
68552041
T
-A
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
-2bp 3'_splice_site
rs2234686
-
-
lod=21:295
-
-
-
hom
3
9
12
68553400
T
C
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
5'_UTR
rs181407537
0.0014
C=7/T=8589;C=0/T=4406;C=7/T=12995
-
-
-
-
het
4
10
12
68553403
G
A
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
11
12
68553420
G
T
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
12
12
68553477
T
C
ENST00000229135
ENSG00000111537
68548548
68553527
ENSP00000229135
IFNG
-1
IFNG_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
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