Name: 54144-mm-ensemble
Variants: 227483
Novel Variants: 9420 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION140
CODON_CHANGE_PLUS_CODON_INSERTION90
CODON_DELETION52
CODON_INSERTION74
FRAME_SHIFT203
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST4
GENE_FUSION1
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]36
MOTIF[MA0014.1:Pax5]7
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]26
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]15
MOTIF[MA0062.2:Gabp]40
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]38
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]4
MOTIF[MA0093.1:USF1]10
MOTIF[MA0095.1:Yy1]19
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]12
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]4
MOTIF[MA0139.1:CTCF]146
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]16
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]7
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]55
NON_SYNONYMOUS_CODING11938
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION253
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS175
SPLICE_SITE_REGION41
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING258
START_GAINED350
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED116
STOP_GAINED+CODON_INSERTION1
STOP_LOST30
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12295
SYNONYMOUS_STOP9
TRANSCRIPT4
None0

Type Total Variants
1673
MISSENSE12238
NONSENSE116
SILENT12562
None0

Type Total Variants
HIGH596
LOW13167
MODERATE12552
MODIFIER274
None0

Type Total Variants
PASS227483

Quality Value
Min3.05
Average470.038697177051
Max55128.0

Read Depth Value
Min1
Average26.135069433759885
Max2270

Type Total Variants
None0
2|21
25
5|51

Chromossome Total Variants
120389
1010186
1112516
1211450
135348
147665
157485
169668
1711499
184103
1913163
215770
205627
214018
225571
311728
410259
59542
614009
713518
88118
99754
MT19
X4941
Y1137