Name: combined sample_100.variant
Variants: 155198
Novel Variants: 4667 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION130
CODON_CHANGE_PLUS_CODON_INSERTION103
CODON_DELETION59
CODON_INSERTION98
FRAME_SHIFT364
FRAME_SHIFT+SPLICE_SITE_REGION45
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST7
GENE_FUSION2
GENE_FUSION_REVERESE1
MOTIF_DELETED10
MOTIF[MA0003.1:Ap2alpha]37
MOTIF[MA0014.1:Pax5]6
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]10
MOTIF[MA0035.2:Gata1]2
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]18
MOTIF[MA0059.1:Cmyc]11
MOTIF[MA0062.1:Gabp]13
MOTIF[MA0062.2:Gabp]48
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]14
MOTIF[MA0079.2:SP1]54
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]4
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]5
MOTIF[MA0095.1:Yy1]18
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]3
MOTIF[MA0114.1:HNF4A]13
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]11
MOTIF[MA0139.1:CTCF]120
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]20
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]64
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING11867
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION242
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS270
SPLICE_SITE_REGION119
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING267
START_GAINED591
START_LOST14
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED133
STOP_GAINED+SPLICE_SITE_REGION4
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12090
SYNONYMOUS_STOP15
TRANSCRIPT10
None0

Type Total Variants
2319
MISSENSE12154
NONSENSE137
SILENT12372
None0

Type Total Variants
HIGH883
LOW13327
MODERATE12502
MODIFIER270
None0

Type Total Variants
DRAGENHardINDEL86
DRAGENHardSNP1039
PASS154073

Quality Value
Min30.01
Average1602.07386912204
Max160266.0

Read Depth Value
Min0
Average83.44253791930308
Max4423

Type Total Variants
None0
2|21
24
5|51

Chromossome Total Variants
115074
106656
119488
128590
132960
145503
155576
166286
178514
182928
199789
210904
203723
212325
223809
38738
46628
56798
69291
77797
85661
96062
X2036
Y62