Name: index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift
Variants: 273194
Novel Variants: 3562 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 273194 152397 0/1 120033 1/1 764 1/2
Total Gene-associated SNVs 273194 152397 0/1 120033 1/1 764 1/2

Type Total Variants
38
CODON_CHANGE_PLUS_CODON_DELETION127
CODON_CHANGE_PLUS_CODON_INSERTION74
CODON_DELETION48
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION64
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT171
FRAME_SHIFT+SPLICE_SITE_REGION39
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST3
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]30
MOTIF[MA0014.1:Pax5]10
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]6
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]3
MOTIF[MA0058.1:Max]20
MOTIF[MA0059.1:Cmyc]9
MOTIF[MA0062.1:Gabp]16
MOTIF[MA0062.2:Gabp]48
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]3
MOTIF[MA0079.1:SP1]11
MOTIF[MA0079.2:SP1]47
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]2
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]15
MOTIF[MA0095.1:Yy1]15
MOTIF[MA0099.1:Cfos]4
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]13
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]10
MOTIF[MA0139.1:CTCF]160
MOTIF[MA0147.1:Cmyc]17
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]9
MOTIF[MA0159.1:RXR]4
MOTIF[MA0162.1:Egr1]45
NON_SYNONYMOUS_CODING12851
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION276
NON_SYNONYMOUS_START2
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS303
SPLICE_SITE_REGION95
SPLICE_SITE_REGION+SYNONYMOUS_CODING299
START_GAINED512
START_LOST18
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION2
START_LOST+CODON_DELETION1
STOP_GAINED102
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST28
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING13543
SYNONYMOUS_STOP18
TRANSCRIPT2
None0

Type Total Variants
2013
MISSENSE13177
NONSENSE104
SILENT13860
None0

Type Total Variants
HIGH685
LOW14672
MODERATE13442
MODIFIER355
None0

Type Total Variants
.273194

Quality Value
Min30.74
Average813.180553967871
Max65422.19

Read Depth Value
Min2
Average48.7536805347116
Max250

Type Total Variants
None0
-61
2|5|51
5|2|31
5|5|51
3|2,3|21
3,36
5|5|2|31
2,29
3|219
-56
-5|-51
3|2|21
2|32
2|267
2223
3107
2|2|27
66
528
5|21
5|5|5|5|5|21
2|2,2|22
5|2|21
2|2|2|25
6|21
5|51
2|52

Chromossome Total Variants
126266
1012765
1115204
1214363
135920
149492
159017
1610373
1713678
185253
1914529
219869
206613
214248
226749
315543
412581
513262
612326
714895
811148
911523
M38
X6633
Y906