Name: gordonsepilepsy normalized 2076
Variants: 145711
Novel Variants: 4102 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 145711 79747 0/1 518 ./1 518 1/. 64928 1/1
Total Gene-associated SNVs 145711 79747 0/1 518 ./1 518 1/. 64928 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION119
CODON_CHANGE_PLUS_CODON_INSERTION78
CODON_DELETION38
CODON_INSERTION69
FRAME_SHIFT310
FRAME_SHIFT+SPLICE_SITE_REGION32
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST2
GENE_FUSION_REVERESE1
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]7
MOTIF[MA0014.1:Pax5]8
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]9
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]14
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0079.1:SP1]4
MOTIF[MA0079.2:SP1]15
MOTIF[MA0080.2:PU1]3
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]9
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]93
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]4
MOTIF[MA0162.1:Egr1]14
NON_SYNONYMOUS_CODING11162
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION230
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS247
SPLICE_SITE_REGION38
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING244
START_GAINED189
START_LOST12
STOP_GAINED129
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION2
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST30
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11192
SYNONYMOUS_STOP13
TRANSCRIPT1
None0

Type Total Variants
1353
MISSENSE11437
NONSENSE131
SILENT11449
None0

Type Total Variants
HIGH778
LOW11759
MODERATE11699
MODIFIER134
None0

Type Total Variants
.145711

Quality Value
Min30.01
Average3478.99938892778
Max58463.7

Read Depth Value
Min0
Average23.96845811229077
Max480

Type Total Variants
None0
2|22
24
31

Chromossome Total Variants
114136
106485
118654
127547
133228
145220
155165
165669
177192
182592
197708
211084
203659
212364
223455
37565
46452
56061
68770
78436
84921
96597
MT29
X2030
Y692