Name: p0085_filtered
Variants: 161491
Novel Variants: 4903 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 161491 94138 0/1 66800 1/1 553 1/2
Total Gene-associated SNVs 161491 94138 0/1 66800 1/1 553 1/2

Type Total Variants
32
CODON_CHANGE_PLUS_CODON_DELETION132
CODON_CHANGE_PLUS_CODON_INSERTION80
CODON_DELETION52
CODON_INSERTION65
FRAME_SHIFT195
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST2
GENE_FUSION_REVERESE1
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]36
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]10
MOTIF[MA0035.2:Gata1]2
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]18
MOTIF[MA0059.1:Cmyc]6
MOTIF[MA0062.1:Gabp]7
MOTIF[MA0062.2:Gabp]41
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]31
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]2
MOTIF[MA0093.1:USF1]10
MOTIF[MA0095.1:Yy1]14
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]15
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]113
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]15
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]7
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]46
MOTIF[MA0239.1:Pax5]2
NON_SYNONYMOUS_CODING9435
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION205
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS254
SPLICE_SITE_REGION88
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING226
START_GAINED540
START_LOST13
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED69
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING10661
SYNONYMOUS_STOP9
TRANSCRIPT3
None0

Type Total Variants
1923
MISSENSE9677
NONSENSE70
SILENT10896
None0

Type Total Variants
HIGH616
LOW11715
MODERATE9972
MODIFIER263
None0

Type Total Variants
PASS105549
VQSRTrancheINDEL90.00to99.004597
VQSRTrancheINDEL99.00to99.902720
VQSRTrancheINDEL99.90to100.00280
VQSRTrancheSNP90.00to99.0033994
VQSRTrancheSNP99.00to99.9011282
VQSRTrancheSNP99.90to100.003069

Quality Value
Min4.02
Average930.176140280512
Max38802.77

Read Depth Value
Min0
Average0.0
Max0

Type Total Variants
None0
2|21
23
31
5|52

Chromossome Total Variants
115118
107091
119628
128618
133563
145522
155414
166279
179200
183047
199440
211498
204390
212587
224240
38282
47673
58132
67266
77850
86515
96749
M32
X3270
Y87