Name: h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered
Variants: 28677
Novel Variants: 437 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 28677 18043 0/1 10495 1/1 139 1/2
Total Gene-associated SNVs 28677 18043 0/1 10495 1/1 139 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION170
CODON_CHANGE_PLUS_CODON_INSERTION106
CODON_DELETION66
CODON_INSERTION84
FRAME_SHIFT283
FRAME_SHIFT+SPLICE_SITE_REGION34
FRAME_SHIFT+START_LOST6
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST4
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0079.2:SP1]1
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING11136
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION204
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS256
SPLICE_SITE_REGION7
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING240
START_GAINED24
START_LOST9
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_DELETION1
START_LOST+SPLICE_SITE_REGION1
STOP_GAINED100
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST15
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11441
SYNONYMOUS_STOP11
None0

Type Total Variants
1063
MISSENSE11369
NONSENSE102
SILENT11692
None0

Type Total Variants
HIGH725
LOW11733
MODERATE11767
MODIFIER1
None0

Type Total Variants
basic_indel_filter212
basic_snp_filter1219
CNN_1D_INDEL_Tranche_99.40_100.0024
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter8
CNN_1D_SNP_Tranche_99.95_100.00242
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter246
PASS26726

Quality Value
Min30.6
Average2347.16025351328
Max67381.6

Read Depth Value
Min1
Average135.73864072253025
Max2701

Type Total Variants
None0

Chromossome Total Variants
12878
101158
112134
121411
13523
14878
15952
161152
171754
18418
192298
21792
20657
21363
22561
31650
41060
51086
61871
71610
8876
91102
X487
Y6