Name: g06400841-ib-ex-60-1790-lia-amanlo-x_s18 soft_filtered
Variants: 28662
Novel Variants: 361 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 28662 18772 0/1 9813 1/1 77 1/2
Total Gene-associated SNVs 28662 18772 0/1 9813 1/1 77 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION155
CODON_CHANGE_PLUS_CODON_INSERTION109
CODON_DELETION64
CODON_INSERTION85
FRAME_SHIFT229
FRAME_SHIFT+SPLICE_SITE_REGION39
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST1
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.2:SP1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0139.1:CTCF]2
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING11004
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION233
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS267
SPLICE_SITE_REGION7
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING251
START_GAINED24
START_LOST11
STOP_GAINED95
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST16
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING11705
SYNONYMOUS_STOP8
None0

Type Total Variants
1000
MISSENSE11265
NONSENSE96
SILENT11964
None0

Type Total Variants
HIGH668
LOW12002
MODERATE11652
MODIFIER3
None0

Type Total Variants
basic_indel_filter112
basic_snp_filter842
CNN_1D_INDEL_Tranche_99.40_100.0044
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter14
CNN_1D_SNP_Tranche_99.95_100.00413
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter306
PASS26931

Quality Value
Min30.6
Average2156.10148140445
Max87869.6

Read Depth Value
Min2
Average145.99794152536458
Max3636

Type Total Variants
None0

Chromossome Total Variants
12801
101178
112156
121486
13483
14937
15934
161089
171748
18448
192241
21902
20666
21362
22644
31575
41115
51178
61802
71416
8879
91035
X577
Y10