Name: 62716307_s105-200325_a00853_0090_bhnncndmxx-normal-illuwestwist-c50063e5-mvar
Variants: 140397
Novel Variants: 15783 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 140397 84036 0/1 112 0/2 15 0/3 55934 1/1 259 2/2 38 3/3 3 4/4
Total Gene-associated SNVs 140397 84036 0/1 112 0/2 15 0/3 55934 1/1 259 2/2 38 3/3 3 4/4

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION86
CODON_CHANGE_PLUS_CODON_INSERTION121
CODON_DELETION158
CODON_INSERTION177
FRAME_SHIFT163
FRAME_SHIFT+NON_SYNONYMOUS_CODING1
FRAME_SHIFT+SPLICE_SITE_REGION50
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST7
GENE_FUSION2
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]30
MOTIF[MA0014.1:Pax5]4
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]15
MOTIF[MA0059.1:Cmyc]5
MOTIF[MA0062.1:Gabp]5
MOTIF[MA0062.2:Gabp]29
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]8
MOTIF[MA0079.2:SP1]41
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]6
MOTIF[MA0095.1:Yy1]10
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]8
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]98
MOTIF[MA0147.1:Cmyc]14
MOTIF[MA0154.1:EBF]3
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]78
NON_SYNONYMOUS_CODING12432
NON_SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_DELETION1
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION251
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS261
SPLICE_SITE_REGION39
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING267
START_GAINED354
START_LOST11
STOP_GAINED142
STOP_GAINED+CODON_INSERTION13
STOP_GAINED+SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION4
STOP_LOST31
STOP_LOST+CODON_DELETION2
STOP_LOST+SPLICE_SITE_REGION5
SYNONYMOUS_CODING12311
SYNONYMOUS_CODING+CODON_DELETION3
SYNONYMOUS_STOP16
TRANSCRIPT3
None0

Type Total Variants
1846
MISSENSE12730
NONSENSE142
SILENT12594
None0

Type Total Variants
HIGH703
LOW13182
MODERATE13232
MODIFIER195
None0

Type Total Variants
PASS140397

Quality Value
Min10.04
Average883.369308746082
Max50635.8

Read Depth Value
Min0
Average0.0
Max0

Type Total Variants
None0

Chromossome Total Variants
114120
106329
118108
127511
133062
144647
154636
166046
177991
182302
199345
29655
203478
212167
223269
37717
45833
55942
67968
77662
84448
95912
X2241
Y8