Name: allfamilies AWI
Variants: 37200
Novel Variants: 438 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37200 22640 0/1 6 0/2 14464 1/1 76 1/2 4 1/3 8 2/2 2 2/3
Total Gene-associated SNVs 37200 22640 0/1 6 0/2 14464 1/1 76 1/2 4 1/3 8 2/2 2 2/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION63
CODON_CHANGE_PLUS_CODON_INSERTION36
CODON_DELETION30
CODON_INSERTION37
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT139
FRAME_SHIFT+SPLICE_SITE_REGION26
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST3
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]6
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]13
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8446
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION194
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS239
SPLICE_SITE_REGION15
SPLICE_SITE_REGION+SYNONYMOUS_CODING191
START_GAINED135
START_LOST8
STOP_GAINED71
STOP_LOST16
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9643
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
782
MISSENSE8667
NONSENSE71
SILENT9843
None0

Type Total Variants
HIGH515
LOW10016
MODERATE8807
MODIFIER25
None0

Type Total Variants
PASS37200

Quality Value
Min15.26
Average1015.82413089517
Max3854.15

Read Depth Value
Min5
Average102.55260752688172
Max903

Type Total Variants
None0

Chromossome Total Variants
13834
101529
112495
121993
13693
141102
151260
161573
172377
18613
192740
22572
20905
21479
22741
32081
41409
51526
62114
71624
81373
91523
X644