Name: combined sample_66.variant27
Variants: 159462
Novel Variants: 5545 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION118
CODON_CHANGE_PLUS_CODON_INSERTION109
CODON_DELETION61
CODON_INSERTION111
FRAME_SHIFT339
FRAME_SHIFT+SPLICE_SITE_REGION43
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST5
GENE_FUSION3
GENE_FUSION_REVERESE3
MOTIF_DELETED13
MOTIF[MA0003.1:Ap2alpha]40
MOTIF[MA0014.1:Pax5]5
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]14
MOTIF[MA0035.2:Gata1]2
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]22
MOTIF[MA0059.1:Cmyc]10
MOTIF[MA0062.1:Gabp]9
MOTIF[MA0062.2:Gabp]48
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]13
MOTIF[MA0079.2:SP1]44
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]5
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]10
MOTIF[MA0095.1:Yy1]19
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]16
MOTIF[MA0138.2:Nrsf]10
MOTIF[MA0139.1:CTCF]118
MOTIF[MA0140.1:Tal1]3
MOTIF[MA0147.1:Cmyc]23
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]5
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]86
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING12010
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION239
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS286
SPLICE_SITE_REGION122
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING260
START_GAINED627
START_LOST17
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED122
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST26
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING12124
SYNONYMOUS_STOP12
TRANSCRIPT11
None0

Type Total Variants
2403
MISSENSE12296
NONSENSE125
SILENT12396
None0

Type Total Variants
HIGH869
LOW13432
MODERATE12652
MODIFIER267
None0

Type Total Variants
DRAGENHardINDEL117
DRAGENHardSNP1320
PASS158025

Quality Value
Min30.02
Average1621.81115375448
Max160266.0

Read Depth Value
Min0
Average95.47968795073434
Max4245

Type Total Variants
None0
2|21
23
5|51

Chromossome Total Variants
115490
106687
119675
128862
133001
145732
155249
166828
178754
183053
1910435
210943
204074
212354
223836
39142
47110
57132
68496
78226
85915
96142
X2153
Y173