Name: mk267 final
Variants: 98730
Novel Variants: 1138 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 98730 58543 0/1 40010 1/1 177 1/2
Total Gene-associated SNVs 98730 58543 0/1 40010 1/1 177 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION148
CODON_CHANGE_PLUS_CODON_INSERTION87
CODON_DELETION49
CODON_INSERTION80
FRAME_SHIFT255
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
GENE_FUSION_REVERESE1
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]16
MOTIF[MA0014.1:Pax5]4
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]10
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]26
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]18
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]2
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]4
MOTIF[MA0095.1:Yy1]8
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]72
MOTIF[MA0147.1:Cmyc]7
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]3
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]26
NON_SYNONYMOUS_CODING11256
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION234
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS257
SPLICE_SITE_REGION28
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING253
START_GAINED228
START_LOST16
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED122
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST20
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11674
SYNONYMOUS_STOP12
TRANSCRIPT1
None0

Type Total Variants
1425
MISSENSE11530
NONSENSE125
SILENT11939
None0

Type Total Variants
HIGH738
LOW12303
MODERATE11857
MODIFIER121
None0

Type Total Variants
MG_INDEL_Filter57
MG_SNP_Filter3487
PASS95186

Quality Value
Min30.56
Average850.992565076157
Max40118.77

Read Depth Value
Min0
Average44.493436645396535
Max1312

Type Total Variants
None0

Chromossome Total Variants
19939
104197
116328
125491
131862
143723
153369
164687
175608
181570
196871
26787
202540
211456
222710
34969
43695
54295
64009
75411
83648
93999
X1566