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MSeqDR Master Exome Data Set M1: 69 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
9
136218620
T
C
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
9
2
9
136218650
A
G
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
-
-
3'_UTR
rs4962133
0.06934
-
-
-
-
-
het
101
3
9
136218650
A
G
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
-
-
3'_UTR
rs4962133
0.06934
-
-
-
-
-
hom
5
4
9
136218721
C
T
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
-
-
3'_UTR
rs138050767
0.0042
T=0/C=8596;T=32/C=4372;T=32/C=12968
-
-
-
-
het
1
5
9
136218792
G
A
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
c.879C>T
p.F293F
syn
rs145088629
-
A=2/G=8598;A=0/G=4406;A=2/G=13004
lod=18:278
-
-
-
het
2
6
9
136218792
G
A
ENST00000437995
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
c.789C>T
p.F263F
syn
rs145088629
-
A=2/G=8598;A=0/G=4406;A=2/G=13004
lod=18:278
-
-
-
het
2
7
9
136218792
G
A
ENST00000495952
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
c.869C>T
p.S290F
non-syn
rs145088629
-
A=2/G=8598;A=0/G=4406;A=2/G=13004
lod=18:278
-
-
-
het
2
8
9
136218913
C
T
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
-
-
+3bp 5'_splice_site
NA
-
-
lod=51:389
-
-
-
het
2
9
9
136218913
C
T
ENST00000437995
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
-
-
+3bp 5'_splice_site
NA
-
-
lod=51:389
-
-
-
het
2
10
9
136218913
C
T
ENST00000495952
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
-
-
+3bp 5'_splice_site
NA
-
-
lod=51:389
-
-
-
het
2
11
9
136219295
A
G
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
-
-
+6bp 5'_splice_site
rs41296099
0.0271
G=24/A=8576;G=154/A=4252;G=178/A=12828
lod=24:309
-
-
HGMD
het
5
12
9
136219295
A
G
ENST00000437995
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
-
-
+6bp 5'_splice_site
rs41296099
0.0271
G=24/A=8576;G=154/A=4252;G=178/A=12828
lod=24:309
-
-
HGMD
het
5
13
9
136219295
A
G
ENST00000495952
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
-
-
+6bp 5'_splice_site
rs41296099
0.0271
G=24/A=8576;G=154/A=4252;G=178/A=12828
lod=24:309
-
-
HGMD
het
5
14
9
136219307
T
C
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
c.745A>G
p.N249D
non-syn
NA
-
-
-
TOLERATED
B
-
het
2
15
9
136219307
T
C
ENST00000437995
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
c.655A>G
p.N219D
non-syn
NA
-
-
-
TOLERATED
B
-
het
2
16
9
136219307
T
C
ENST00000495952
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
c.735A>G
p.P245P
syn
NA
-
-
-
TOLERATED
B
-
het
2
17
9
136219316
T
C
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
c.736A>G
p.I246V
non-syn
NA
-
-
lod=59:405
TOLERATED
P
-
het
1
18
9
136219316
T
C
ENST00000437995
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
c.646A>G
p.I216V
non-syn
NA
-
-
lod=59:405
TOLERATED
P
-
het
1
19
9
136219316
T
C
ENST00000495952
ENSG00000148290
136218610
136223552
-
SURF1
-1
-
c.726A>G
p.S242S
syn
NA
-
-
lod=59:405
TOLERATED
P
-
het
1
20
9
136219448
C
G
ENST00000371974
ENSG00000148290
136218610
136223552
ENSP00000361042
SURF1
-1
SURF1_HUMAN
c.604G>C
p.D202H
non-syn
rs72619327
0.1049
G=2/C=8598;G=9/C=4397;G=11/C=12995
lod=71:425
DAMAGING
D
Cytochrome
het
9
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