Name: pdb346 vep
Variants: 58561
Novel Variants: 483 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 58561 36798 0/1 21688 1/1 75 1/2
Total Gene-associated SNVs 58561 36798 0/1 21688 1/1 75 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION94
CODON_CHANGE_PLUS_CODON_INSERTION65
CODON_DELETION41
CODON_INSERTION56
FRAME_SHIFT213
FRAME_SHIFT+SPLICE_SITE_REGION38
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST3
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]9
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0058.1:Max]5
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]11
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0079.2:SP1]6
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]6
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]39
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING10291
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION207
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS219
SPLICE_SITE_REGION24
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING206
START_GAINED115
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED96
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST19
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING10719
SYNONYMOUS_STOP12
TRANSCRIPT1
None0

Type Total Variants
None0

Type Total Variants
HIGH623
LOW11117
MODERATE10757
MODIFIER59
None0

Type Total Variants
.58561

Quality Value
Min10.15
Average919.330445518074
Max35712.77

Read Depth Value
Min1
Average49.90797629821895
Max1376

Type Total Variants
None0

Chromossome Total Variants
15955
102412
113985
123234
131049
142128
152144
162737
173268
18972
194018
23997
201439
21846
221517
32888
42247
52528
62359
73362
82053
92400
X971
Y52