Name: k06401019-ib-ex-60-2014-fateme-pour-orion-raw-data-ilya-biotech_s3 soft_filtered
Variants: 29083
Novel Variants: 418 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 29083 18400 0/1 10583 1/1 100 1/2
Total Gene-associated SNVs 29083 18400 0/1 10583 1/1 100 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION167
CODON_CHANGE_PLUS_CODON_INSERTION99
CODON_DELETION65
CODON_INSERTION82
FRAME_SHIFT275
FRAME_SHIFT+SPLICE_SITE_REGION37
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST4
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0139.1:CTCF]1
MOTIF[MA0162.1:Egr1]1
NON_SYNONYMOUS_CODING11289
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION221
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS257
SPLICE_SITE_REGION8
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING268
SPLICE_SITE_REGION+SYNONYMOUS_STOP1
START_GAINED29
START_LOST7
STOP_GAINED103
STOP_GAINED+CODON_INSERTION1
STOP_LOST18
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11649
SYNONYMOUS_STOP7
None0

Type Total Variants
1049
MISSENSE11539
NONSENSE103
SILENT11925
None0

Type Total Variants
HIGH719
LOW11968
MODERATE11926
MODIFIER3
None0

Type Total Variants
basic_indel_filter187
basic_snp_filter1218
CNN_1D_INDEL_Tranche_99.40_100.0029
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter16
CNN_1D_SNP_Tranche_99.95_100.00311
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter370
PASS26952

Quality Value
Min30.48
Average2243.14840181548
Max55144.6

Read Depth Value
Min1
Average137.90922532063405
Max3280

Type Total Variants
None0

Chromossome Total Variants
12798
101155
112076
121441
13534
14805
15928
161044
171809
18383
192319
21961
20686
21384
22633
31792
41124
51198
61960
71485
8930
91037
X594
Y7