Name: f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered
Variants: 27258
Novel Variants: 308 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 27258 16558 0/1 10617 1/1 83 1/2
Total Gene-associated SNVs 27258 16558 0/1 10617 1/1 83 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION153
CODON_CHANGE_PLUS_CODON_INSERTION92
CODON_DELETION49
CODON_INSERTION70
FRAME_SHIFT219
FRAME_SHIFT+SPLICE_SITE_REGION35
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0139.1:CTCF]1
MOTIF[MA0162.1:Egr1]1
NON_SYNONYMOUS_CODING10518
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION193
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS247
SPLICE_SITE_REGION8
SPLICE_SITE_REGION+SYNONYMOUS_CODING238
START_GAINED26
START_LOST10
STOP_GAINED86
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST16
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11156
SYNONYMOUS_STOP8
None0

Type Total Variants
923
MISSENSE10741
NONSENSE87
SILENT11402
None0

Type Total Variants
HIGH634
LOW11442
MODERATE11075
MODIFIER2
None0

Type Total Variants
basic_indel_filter100
basic_snp_filter1085
CNN_1D_INDEL_Tranche_99.40_100.007
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter3
CNN_1D_SNP_Tranche_99.95_100.0082
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter74
PASS25907

Quality Value
Min30.6
Average1690.56116442862
Max23254.6

Read Depth Value
Min1
Average94.88935358426883
Max1466

Type Total Variants
None0

Chromossome Total Variants
12870
101123
112031
121238
13453
14838
15876
161184
171616
18402
192221
21596
20687
21302
22483
31595
4996
51191
61746
71522
8780
91058
X441
Y9