Name: gordonsepilepsy filtered 2076
Variants: 27772
Novel Variants: 195 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 27772 17021 0/1 62 0/2 1 0/3 10552 1/1 113 1/2 1 1/3 18 2/2 4 2/3
Total Gene-associated SNVs 27772 17021 0/1 62 0/2 1 0/3 10552 1/1 113 1/2 1 1/3 18 2/2 4 2/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION58
CODON_CHANGE_PLUS_CODON_INSERTION44
CODON_DELETION21
CODON_INSERTION42
FRAME_SHIFT117
FRAME_SHIFT+SPLICE_SITE_REGION3
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]1
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]1
MOTIF[MA0080.2:PU1]1
MOTIF[MA0095.1:Yy1]1
MOTIF[MA0139.1:CTCF]5
NON_SYNONYMOUS_CODING6539
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION128
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS156
SPLICE_SITE_REGION10
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING140
START_GAINED47
START_LOST8
STOP_GAINED62
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION2
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST9
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING6717
SYNONYMOUS_STOP5
None0

Type Total Variants
517
MISSENSE6686
NONSENSE63
SILENT6862
None0

Type Total Variants
HIGH364
LOW6925
MODERATE6833
MODIFIER6
None0

Type Total Variants
LowDepth5
PASS27767

Quality Value
Min30.69
Average6588.62531218426
Max53443.7

Read Depth Value
Min1
Average38.404724182629984
Max452

Type Total Variants
None0
2|22
24
31

Chromossome Total Variants
14121
101615
113063
121782
22903
32352
41716
51798
62751
71910
81388
91735
X629
Y9