Name: gordonsepilepsy filtered 2484
Variants: 29015
Novel Variants: 160 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION71
CODON_CHANGE_PLUS_CODON_INSERTION65
CODON_DELETION28
CODON_INSERTION46
FRAME_SHIFT112
FRAME_SHIFT+SPLICE_SITE_REGION2
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED2
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0014.1:Pax5]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]2
MOTIF[MA0095.1:Yy1]1
MOTIF[MA0139.1:CTCF]7
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0162.1:Egr1]3
NON_SYNONYMOUS_CODING6519
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION136
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS164
SPLICE_SITE_REGION13
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING125
START_GAINED62
START_LOST6
STOP_GAINED53
STOP_LOST7
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING6940
SYNONYMOUS_STOP7
None0

Type Total Variants
592
MISSENSE6670
NONSENSE53
SILENT7072
None0

Type Total Variants
HIGH351
LOW7158
MODERATE6866
MODIFIER12
None0

Type Total Variants
LowDepth15
PASS29000

Quality Value
Min30.67
Average6546.05220885677
Max53443.7

Read Depth Value
Min1
Average74.4992934688954
Max452

Type Total Variants
None0
2|22
26
31

Chromossome Total Variants
14279
101733
113058
121775
23050
32338
41812
51887
63047
72056
81571
91790
X612
Y7