Name: combined sample_50.variant14
Variants: 157997
Novel Variants: 5219 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION132
CODON_CHANGE_PLUS_CODON_INSERTION116
CODON_DELETION58
CODON_INSERTION109
FRAME_SHIFT382
FRAME_SHIFT+SPLICE_SITE_REGION47
FRAME_SHIFT+START_LOST6
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST4
GENE_FUSION2
GENE_FUSION_REVERESE3
MOTIF_DELETED10
MOTIF[MA0003.1:Ap2alpha]44
MOTIF[MA0014.1:Pax5]7
MOTIF[MA0016.1:RXRA]6
MOTIF[MA0024.1:E2F1]11
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]13
MOTIF[MA0062.1:Gabp]10
MOTIF[MA0062.2:Gabp]43
MOTIF[MA0079.1:SP1]13
MOTIF[MA0079.2:SP1]57
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]5
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]6
MOTIF[MA0095.1:Yy1]14
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]18
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]109
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]23
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]74
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING12042
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION240
NON_SYNONYMOUS_START2
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS272
SPLICE_SITE_REGION129
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING249
START_GAINED595
START_LOST13
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED130
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING12189
SYNONYMOUS_STOP8
TRANSCRIPT6
None0

Type Total Variants
2397
MISSENSE12327
NONSENSE131
SILENT12446
None0

Type Total Variants
HIGH904
LOW13435
MODERATE12700
MODIFIER262
None0

Type Total Variants
DRAGENHardINDEL105
DRAGENHardSNP1191
PASS156701

Quality Value
Min30.01
Average1638.09789439039
Max246343.0

Read Depth Value
Min0
Average93.33331012614164
Max4350

Type Total Variants
None0
41
2|21
22
51

Chromossome Total Variants
114871
106623
119181
128519
132789
145459
155473
166609
178828
182949
1910350
211193
203724
212306
223936
38583
46784
57173
69321
78035
85933
96232
X2983
Y143