Name: porto_final_annot intervar_annovar
Variants: 82811
Novel Variants: 6864 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 82811 51913 0/1 30898 1/1
Total Gene-associated SNVs 82811 51913 0/1 30898 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION62
CODON_CHANGE_PLUS_CODON_INSERTION82
CODON_DELETION110
CODON_INSERTION111
FRAME_SHIFT156
FRAME_SHIFT+SPLICE_SITE_REGION44
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST1
GENE_FUSION1
MOTIF[MA0003.1:Ap2alpha]18
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]6
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]19
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]12
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]55
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]11
NON_SYNONYMOUS_CODING11026
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION238
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS260
SPLICE_SITE_REGION38
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+SYNONYMOUS_CODING237
START_GAINED190
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED91
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION2
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION1
STOP_LOST28
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11422
SYNONYMOUS_STOP8
None0

Type Total Variants
1237
MISSENSE11307
NONSENSE93
SILENT11667
None0

Type Total Variants
HIGH611
LOW11973
MODERATE11632
MODIFIER88
None0

Type Total Variants
PASS82811

Quality Value
Min10.1
Average169.320258178261
Max227.0

Read Depth Value
Min1
Average61.21726582217338
Max1948

Type Total Variants
None0

Chromossome Total Variants
17985
103509
115069
124366
131539
142921
152792
163745
174936
181323
195427
25504
202147
211250
222073
34474
43221
53457
65309
74213
83005
93426
X1048
Y72