Name: 045_tsvc_variants
Variants: 37977
Novel Variants: 535 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37977 23348 0/1 13 0/2 14506 1/1 91 1/2 4 1/3 14 2/2 1 2/4
Total Gene-associated SNVs 37977 23348 0/1 13 0/2 14506 1/1 91 1/2 4 1/3 14 2/2 1 2/4

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION70
CODON_CHANGE_PLUS_CODON_INSERTION30
CODON_DELETION32
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION34
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT133
FRAME_SHIFT+SPLICE_SITE_REGION24
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.2:PU1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]15
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8590
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION200
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS239
SPLICE_SITE_REGION17
SPLICE_SITE_REGION+SYNONYMOUS_CODING222
START_GAINED133
START_LOST10
STOP_GAINED70
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST18
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9845
SYNONYMOUS_STOP6
TRANSCRIPT1
None0

Type Total Variants
783
MISSENSE8821
NONSENSE71
SILENT10073
None0

Type Total Variants
HIGH513
LOW10246
MODERATE8958
MODIFIER31
None0

Type Total Variants
PASS37977

Quality Value
Min10.0
Average591.551583326754
Max3853.42

Read Depth Value
Min6
Average124.10453695657898
Max1686

Type Total Variants
None0

Chromossome Total Variants
13940
101545
112537
121997
13678
141111
151178
161604
172552
18647
192834
22543
20908
21524
22798
32172
41516
51743
62014
71663
81284
91486
X702
Y1