Name: 046_tsvc_variants
Variants: 37666
Novel Variants: 525 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37666 23356 0/1 9 0/2 1 0/4 14198 1/1 89 1/2 1 1/3 11 2/2 1 2/3
Total Gene-associated SNVs 37666 23356 0/1 9 0/2 1 0/4 14198 1/1 89 1/2 1 1/3 11 2/2 1 2/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION62
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION38
CODON_DELETION32
CODON_INSERTION36
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT123
FRAME_SHIFT+SPLICE_SITE_REGION25
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST2
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]4
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]4
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]13
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8529
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION186
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS233
SPLICE_SITE_REGION17
SPLICE_SITE_REGION+SYNONYMOUS_CODING229
START_GAINED141
START_LOST11
STOP_GAINED72
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST15
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9750
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
773
MISSENSE8744
NONSENSE73
SILENT9988
None0

Type Total Variants
HIGH496
LOW10169
MODERATE8885
MODIFIER28
None0

Type Total Variants
PASS37666

Quality Value
Min10.0
Average554.782888015721
Max3853.52

Read Depth Value
Min5
Average117.35050177879255
Max1445

Type Total Variants
None0

Chromossome Total Variants
13857
101609
112541
121956
13690
141120
151163
161693
172333
18595
192806
22588
20947
21530
22751
32048
41474
51705
62103
71622
81363
91469
X702
Y1