Name: tsvc_variants_ionxpress_004
Variants: 35064
Novel Variants: 515 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 35064 19305 0/1 32 0/2 15624 1/1 73 1/2 25 2/2 2 2/3 3 3/3
Total Gene-associated SNVs 35064 19305 0/1 32 0/2 15624 1/1 73 1/2 25 2/2 2 2/3 3 3/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION52
CODON_CHANGE_PLUS_CODON_INSERTION28
CODON_DELETION20
CODON_INSERTION20
FRAME_SHIFT117
FRAME_SHIFT+SPLICE_SITE_REGION26
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST3
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]3
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0114.1:HNF4A]2
MOTIF[MA0139.1:CTCF]17
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0154.1:EBF]2
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING7865
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION190
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS232
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING202
START_GAINED117
START_LOST4
STOP_GAINED59
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST15
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING9145
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
796
MISSENSE7972
NONSENSE60
SILENT9353
None0

Type Total Variants
HIGH468
LOW9511
MODERATE8176
MODIFIER26
None0

Type Total Variants
PASS35064

Quality Value
Min10.0
Average492.657110754622
Max3760.46

Read Depth Value
Min7
Average99.08915126625598
Max1078

Type Total Variants
None0

Chromossome Total Variants
13666
101545
112413
121848
13661
141071
151125
161548
172262
18565
192493
22480
20959
21415
22811
31955
41415
51552
61924
71435
81141
91366
X411
Y3