Name: sm007-1 both
Variants: 47113
Novel Variants: 387 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 47113 27520 0/1 19496 1/1 97 1/2
Total Gene-associated SNVs 47113 27520 0/1 19496 1/1 97 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION62
CODON_CHANGE_PLUS_CODON_INSERTION41
CODON_DELETION34
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION46
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT130
FRAME_SHIFT+SPLICE_SITE_REGION39
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]5
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]9
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]5
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]24
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING9893
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION196
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS233
SPLICE_SITE_REGION22
SPLICE_SITE_REGION+SYNONYMOUS_CODING194
START_GAINED91
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED95
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING10303
SYNONYMOUS_STOP8
None0

Type Total Variants
786
MISSENSE10125
NONSENSE98
SILENT10505
None0

Type Total Variants
HIGH545
LOW10658
MODERATE10274
MODIFIER37
None0

Type Total Variants
.46836
LowQual277

Quality Value
Min10.2
Average1972.30589773512
Max35070.29

Read Depth Value
Min1
Average98.16541082079256
Max3045

Type Total Variants
None0

Chromossome Total Variants
14585
101887
113174
122455
13794
141659
151513
162126
172523
18724
193226
23113
201196
21684
221159
32508
41793
51931
63310
72457
81642
91847
X760
Y47