Name: i06400152-ib-ex-60-1844-ehsan-ilya-biotech-orion-raw-data-9-ilya-biotech-4_s237 soft_filtered
Variants: 28230
Novel Variants: 407 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 28230 17592 0/1 10534 1/1 104 1/2
Total Gene-associated SNVs 28230 17592 0/1 10534 1/1 104 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION145
CODON_CHANGE_PLUS_CODON_INSERTION105
CODON_DELETION60
CODON_INSERTION83
FRAME_SHIFT245
FRAME_SHIFT+SPLICE_SITE_REGION36
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST3
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0139.1:CTCF]2
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING10787
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION218
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS281
SPLICE_SITE_REGION6
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING245
SPLICE_SITE_REGION+SYNONYMOUS_STOP1
START_GAINED27
START_LOST10
STOP_GAINED88
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST18
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11430
SYNONYMOUS_STOP10
None0

Type Total Variants
1020
MISSENSE11038
NONSENSE89
SILENT11686
None0

Type Total Variants
HIGH701
LOW11731
MODERATE11399
MODIFIER2
None0

Type Total Variants
basic_indel_filter225
basic_snp_filter1190
CNN_1D_INDEL_Tranche_99.40_100.0028
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter6
CNN_1D_SNP_Tranche_99.95_100.00300
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter474
PASS26007

Quality Value
Min30.6
Average2795.66101735755
Max95835.6

Read Depth Value
Min1
Average164.14194119730783
Max3281

Type Total Variants
None0

Chromossome Total Variants
12908
101085
111979
121450
13402
14924
15977
161080
171742
18425
192310
21761
20693
21354
22673
31621
41067
51062
61632
71561
8904
91143
X465
Y12