Name: gordonsepilepsy filtered 2487_pool
Variants: 29674
Novel Variants: 162 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION76
CODON_CHANGE_PLUS_CODON_INSERTION64
CODON_DELETION32
CODON_INSERTION47
FRAME_SHIFT127
FRAME_SHIFT+SPLICE_SITE_REGION2
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED2
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]3
MOTIF[MA0080.2:PU1]1
MOTIF[MA0139.1:CTCF]6
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0162.1:Egr1]3
NON_SYNONYMOUS_CODING6656
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION127
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS157
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING134
START_GAINED61
START_LOST5
STOP_GAINED39
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST9
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING7070
SYNONYMOUS_STOP5
None0

Type Total Variants
608
MISSENSE6798
NONSENSE40
SILENT7209
None0

Type Total Variants
HIGH346
LOW7295
MODERATE7003
MODIFIER11
None0

Type Total Variants
LowDepth28
PASS29646

Quality Value
Min30.17
Average6593.91128765841
Max53443.7

Read Depth Value
Min1
Average136.55341376289007
Max524

Type Total Variants
None0
2|21
25

Chromossome Total Variants
14328
101785
113122
121814
22966
32490
41825
51963
63168
72199
81538
91844
X624
Y8