Name: allfamilies BIQ
Variants: 38147
Novel Variants: 563 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION61
CODON_CHANGE_PLUS_CODON_INSERTION48
CODON_DELETION27
CODON_INSERTION32
FRAME_SHIFT138
FRAME_SHIFT+SPLICE_SITE_REGION24
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST4
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]7
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0114.1:HNF4A]2
MOTIF[MA0139.1:CTCF]10
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8524
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION206
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS232
SPLICE_SITE_REGION17
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING223
START_GAINED140
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_DELETION1
STOP_GAINED80
STOP_GAINED+CODON_INSERTION1
STOP_LOST20
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9866
SYNONYMOUS_STOP11
TRANSCRIPT1
None0

Type Total Variants
783
MISSENSE8763
NONSENSE80
SILENT10100
None0

Type Total Variants
HIGH524
LOW10279
MODERATE8899
MODIFIER24
None0

Type Total Variants
PASS38147

Quality Value
Min10.0
Average1001.14708514432
Max3854.15

Read Depth Value
Min5
Average129.9788187799827
Max1853

Type Total Variants
None0
2|21
22

Chromossome Total Variants
13988
101534
112685
122017
13735
141182
151327
161662
172300
18658
192698
22604
20945
21521
22872
31966
41516
51635
62142
71672
81307
91532
X648
Y1