Name: index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift
Variants: 229744
Novel Variants: 2181 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 229744 137664 0/1 91454 1/1 626 1/2
Total Gene-associated SNVs 229744 137664 0/1 91454 1/1 626 1/2

Type Total Variants
19
CODON_CHANGE_PLUS_CODON_DELETION132
CODON_CHANGE_PLUS_CODON_INSERTION67
CODON_DELETION47
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION59
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT161
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST3
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]34
MOTIF[MA0014.1:Pax5]7
MOTIF[MA0016.1:RXRA]6
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]5
MOTIF[MA0058.1:Max]20
MOTIF[MA0059.1:Cmyc]8
MOTIF[MA0062.1:Gabp]17
MOTIF[MA0062.2:Gabp]49
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]11
MOTIF[MA0079.2:SP1]37
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]4
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]17
MOTIF[MA0095.1:Yy1]11
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]6
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]14
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]144
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]14
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]4
MOTIF[MA0162.1:Egr1]46
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING12308
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION272
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS314
SPLICE_SITE_REGION94
SPLICE_SITE_REGION+SYNONYMOUS_CODING287
START_GAINED501
START_LOST12
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED107
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST29
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING13143
SYNONYMOUS_STOP13
TRANSCRIPT3
None0

Type Total Variants
1951
MISSENSE12625
NONSENSE109
SILENT13443
None0

Type Total Variants
HIGH685
LOW14241
MODERATE12887
MODIFIER315
None0

Type Total Variants
.229744

Quality Value
Min30.73
Average685.382054939801
Max34952.19

Read Depth Value
Min2
Average35.77996378577895
Max250

Type Total Variants
None0
-62
2|5|51
5|2|31
3|2,3|21
3,38
5|5|2|31
2,210
3|220
3|31
-58
-5|-51
3|2|21
2|33
5,51
2|259
2211
3110
2|2|25
66
530
5|21
2|2,2|21
2|2|2|25
6|21
5|54

Chromossome Total Variants
123400
1010062
1112979
1212255
134767
148429
157689
168951
1711756
183586
1912393
216876
205579
213617
225166
312479
410322
510955
610312
712512
89422
910061
M19
X5767
Y390