Name: 031_tsvc_variants
Variants: 37739
Novel Variants: 415 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37739 23080 0/1 5 0/2 14582 1/1 57 1/2 1 1/3 13 2/2 1 3/3
Total Gene-associated SNVs 37739 23080 0/1 5 0/2 14582 1/1 57 1/2 1 1/3 13 2/2 1 3/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION64
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION40
CODON_DELETION31
CODON_INSERTION41
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT106
FRAME_SHIFT+SPLICE_SITE_REGION20
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0058.1:Max]5
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]3
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]5
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]12
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8525
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION194
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS218
SPLICE_SITE_REGION18
SPLICE_SITE_REGION+SYNONYMOUS_CODING225
START_GAINED124
START_LOST7
STOP_GAINED62
STOP_GAINED+CODON_INSERTION1
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9731
SYNONYMOUS_STOP10
TRANSCRIPT1
None0

Type Total Variants
731
MISSENSE8746
NONSENSE62
SILENT9966
None0

Type Total Variants
HIGH447
LOW10133
MODERATE8897
MODIFIER28
None0

Type Total Variants
PASS37739

Quality Value
Min10.0
Average685.3661119134
Max3854.15

Read Depth Value
Min5
Average145.28127401361985
Max1960

Type Total Variants
None0

Chromossome Total Variants
13984
101614
112610
121870
13705
141160
151211
161643
172282
18572
192717
22555
20878
21499
22839
32103
41429
51633
62169
71725
81394
91500
X646
Y1