Name: gordonsepilepsy normalized 2487_pool
Variants: 536752
Novel Variants: 20972 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 536752 171827 0/1 1110 ./1 1110 1/. 362705 1/1
Total Gene-associated SNVs 536752 171827 0/1 1110 ./1 1110 1/. 362705 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION152
CODON_CHANGE_PLUS_CODON_INSERTION99
CODON_DELETION66
CODON_INSERTION85
FRAME_SHIFT331
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST5
GENE_FUSION1
GENE_FUSION_REVERESE1
MOTIF_DELETED14
MOTIF[MA0003.1:Ap2alpha]58
MOTIF[MA0014.1:Pax5]12
MOTIF[MA0016.1:RXRA]6
MOTIF[MA0024.1:E2F1]12
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0036.1:Gata2]4
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]5
MOTIF[MA0058.1:Max]36
MOTIF[MA0059.1:Cmyc]8
MOTIF[MA0062.1:Gabp]14
MOTIF[MA0062.2:Gabp]48
MOTIF[MA0065.1:PPARG]4
MOTIF[MA0079.1:SP1]14
MOTIF[MA0079.2:SP1]66
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]8
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]29
MOTIF[MA0095.1:Yy1]28
MOTIF[MA0099.1:Cfos]6
MOTIF[MA0099.2:AP1]7
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]25
MOTIF[MA0138.1:Nrsf]3
MOTIF[MA0138.2:Nrsf]25
MOTIF[MA0139.1:CTCF]309
MOTIF[MA0140.1:Tal1]4
MOTIF[MA0147.1:Cmyc]28
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]11
MOTIF[MA0159.1:RXR]7
MOTIF[MA0162.1:Egr1]76
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING11475
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION248
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS244
SPLICE_SITE_REGION53
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING250
START_GAINED406
START_LOST11
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED90
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST28
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING11758
SYNONYMOUS_STOP12
TRANSCRIPT4
None0

Type Total Variants
2383
MISSENSE11765
NONSENSE92
SILENT12020
None0

Type Total Variants
HIGH768
LOW12849
MODERATE12129
MODIFIER514
None0

Type Total Variants
.536752

Quality Value
Min30.0
Average1154.48541013374
Max58463.7

Read Depth Value
Min0
Average25.053469758845797
Max581

Type Total Variants
None0
2|21
25
51
5|51

Chromossome Total Variants
144872
1026546
1127834
1224660
1315652
1416897
1517434
1622391
1725127
1812821
1921789
240363
2014506
2110452
2211274
328890
430599
525221
631378
730829
822746
924057
MT14
X7959
Y2441