Name: manuela_niro
Variants: 31098
Novel Variants: 1156 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION41
CODON_CHANGE_PLUS_CODON_INSERTION18
CODON_DELETION20
CODON_INSERTION25
FRAME_SHIFT108
FRAME_SHIFT+SPLICE_SITE_REGION8
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0058.1:Max]1
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]9
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0139.1:CTCF]16
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]2
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING5419
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION117
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS109
SPLICE_SITE_REGION11
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING124
START_GAINED89
START_LOST9
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED53
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST4
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING5990
SYNONYMOUS_STOP6
None0

Type Total Variants
578
MISSENSE5458
NONSENSE54
SILENT6119
None0

Type Total Variants
HIGH298
LOW6245
MODERATE5641
MODIFIER25
None0

Type Total Variants
PASS31098

Quality Value
Min10.0
Average395.663731429676
Max3853.67

Read Depth Value
Min5
Average136.16200398739468
Max1401

Type Total Variants
None0
41
2|22
23
31
51

Chromossome Total Variants
13178
101353
111811
121459
13562
14904
151126
161246
171599
18485
192610
22033
20828
21457
22795
31602
41396
51286
61772
71433
81117
91238
X808