Name: h06400082-ib-ex-60-1795_s23 soft_filtered
Variants: 28382
Novel Variants: 423 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 28382 18545 0/1 9758 1/1 79 1/2
Total Gene-associated SNVs 28382 18545 0/1 9758 1/1 79 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION149
CODON_CHANGE_PLUS_CODON_INSERTION101
CODON_DELETION60
CODON_INSERTION85
FRAME_SHIFT271
FRAME_SHIFT+SPLICE_SITE_REGION37
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED7
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST4
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0139.1:CTCF]1
MOTIF[MA0162.1:Egr1]1
NON_SYNONYMOUS_CODING10979
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION207
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS291
SPLICE_SITE_REGION4
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING242
START_GAINED20
START_LOST7
STOP_GAINED88
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST15
STOP_LOST+SPLICE_SITE_REGION5
SYNONYMOUS_CODING11613
SYNONYMOUS_STOP9
None0

Type Total Variants
1050
MISSENSE11214
NONSENSE90
SILENT11864
None0

Type Total Variants
HIGH738
LOW11895
MODERATE11583
MODIFIER2
None0

Type Total Variants
basic_indel_filter75
basic_snp_filter939
CNN_1D_INDEL_Tranche_99.40_100.0028
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter11
CNN_1D_SNP_Tranche_99.95_100.00297
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter307
PASS26725

Quality Value
Min30.6
Average1914.99137622451
Max102881.6

Read Depth Value
Min2
Average129.08907053766472
Max3966

Type Total Variants
None0

Chromossome Total Variants
12748
101132
112114
121418
13476
14852
15921
161248
171699
18415
192143
21818
20651
21352
22661
31678
41066
51233
61678
71528
8930
91145
X471
Y5