Name: 002-64854-300-scex
Variants: 101956
Novel Variants: 12663 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 101956 63252 0/1 38374 1/1 330 1/2
Total Gene-associated SNVs 101956 63252 0/1 38374 1/1 330 1/2

Type Total Variants
30
CODON_CHANGE_PLUS_CODON_DELETION107
CODON_CHANGE_PLUS_CODON_INSERTION188
CODON_DELETION133
CODON_INSERTION247
FRAME_SHIFT201
FRAME_SHIFT+SPLICE_SITE_REGION65
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST9
GENE_FUSION2
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]28
MOTIF[MA0014.1:Pax5]4
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]6
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]11
MOTIF[MA0059.1:Cmyc]5
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]22
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]15
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]4
MOTIF[MA0095.1:Yy1]10
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.2:Nrsf]4
MOTIF[MA0139.1:CTCF]71
MOTIF[MA0147.1:Cmyc]5
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]19
NON_SYNONYMOUS_CODING10778
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION230
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS271
SPLICE_SITE_REGION37
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING248
START_GAINED240
START_LOST9
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION5
START_LOST+CODON_DELETION1
STOP_GAINED100
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION2
STOP_GAINED+CODON_INSERTION7
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST21
STOP_LOST+CODON_DELETION3
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING11384
SYNONYMOUS_STOP9
TRANSCRIPT2
None0

Type Total Variants
1792
MISSENSE11039
NONSENSE103
SILENT11641
None0

Type Total Variants
HIGH711
LOW12028
MODERATE11685
MODIFIER151
None0

Type Total Variants
.101956

Quality Value
Min3.01044
Average171.443177136706
Max228.0

Read Depth Value
Min1
Average47.502638393032285
Max526

Type Total Variants
None0

Chromossome Total Variants
19699
104408
116223
125426
132004
143399
153233
164939
175835
181731
197216
27367
202452
211431
222257
35336
44281
54395
65827
74996
83631
94214
M30
X1589
Y37