Name: filtered_merged_a00k
Variants: 53144
Novel Variants: 558 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 53144 31279 0/1 21740 1/1 125 1/2
Total Gene-associated SNVs 53144 31279 0/1 21740 1/1 125 1/2

Type Total Variants
28
CODON_CHANGE_PLUS_CODON_DELETION129
CODON_CHANGE_PLUS_CODON_INSERTION75
CODON_DELETION46
CODON_INSERTION63
FRAME_SHIFT234
FRAME_SHIFT+SPLICE_SITE_REGION34
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED7
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]2
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]8
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]5
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0099.2:AP1]2
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]22
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]8
NON_SYNONYMOUS_CODING10719
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION224
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS216
SPLICE_SITE_REGION26
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING236
START_GAINED124
START_LOST11
START_LOST+CODON_DELETION1
STOP_GAINED101
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING11087
SYNONYMOUS_STOP7
None0

Type Total Variants
1059
MISSENSE10980
NONSENSE103
SILENT11330
None0

Type Total Variants
HIGH641
LOW11515
MODERATE11260
MODIFIER56
None0

Type Total Variants
LowConfident2299
PASS50845

Quality Value
Min30.73
Average1068.09241532544
Max70357.77

Read Depth Value
Min1
Average56.29779467108234
Max2123

Type Total Variants
None0

Chromossome Total Variants
15385
102281
113801
123057
13992
142010
151420
162278
173141
18899
193994
23791
201314
21728
221272
32845
42102
51925
62319
73020
81815
92009
M28
X690
Y28