Name: combined sample_68.variant29
Variants: 160937
Novel Variants: 5427 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION136
CODON_CHANGE_PLUS_CODON_INSERTION109
CODON_DELETION65
CODON_INSERTION107
FRAME_SHIFT396
FRAME_SHIFT+SPLICE_SITE_REGION43
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED8
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST4
GENE_FUSION2
GENE_FUSION_REVERESE2
MOTIF_DELETED13
MOTIF[MA0003.1:Ap2alpha]45
MOTIF[MA0014.1:Pax5]5
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]10
MOTIF[MA0035.2:Gata1]2
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]19
MOTIF[MA0059.1:Cmyc]10
MOTIF[MA0062.1:Gabp]11
MOTIF[MA0062.2:Gabp]49
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]15
MOTIF[MA0079.2:SP1]47
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]9
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]12
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]3
MOTIF[MA0114.1:HNF4A]10
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]11
MOTIF[MA0139.1:CTCF]117
MOTIF[MA0140.1:Tal1]4
MOTIF[MA0147.1:Cmyc]20
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]9
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]77
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING12163
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION258
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS273
SPLICE_SITE_REGION125
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION3
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING257
START_GAINED630
START_LOST20
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED140
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION4
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12258
SYNONYMOUS_STOP11
TRANSCRIPT12
None0

Type Total Variants
2464
MISSENSE12472
NONSENSE144
SILENT12526
None0

Type Total Variants
HIGH933
LOW13554
MODERATE12843
MODIFIER276
None0

Type Total Variants
DRAGENHardINDEL91
DRAGENHardSNP1274
PASS159572

Quality Value
Min30.0
Average1620.37613712199
Max246343.0

Read Depth Value
Min0
Average92.53353175466177
Max4340

Type Total Variants
None0
2|22
25

Chromossome Total Variants
115937
106906
119852
128704
133057
145268
155499
166617
178836
183000
199801
210866
204003
212410
224200
39183
47039
57163
69853
78128
85855
96363
X2213
Y184