Name: grc14378019_exome
Variants: 55698
Novel Variants: 1454 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 55698 34075 0/1 21456 1/1 167 1/2
Total Gene-associated SNVs 55698 34075 0/1 21456 1/1 167 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION78
CODON_CHANGE_PLUS_CODON_INSERTION46
CODON_DELETION42
CODON_INSERTION32
FRAME_SHIFT154
FRAME_SHIFT+NON_SYNONYMOUS_CODING1
FRAME_SHIFT+SPLICE_SITE_REGION29
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]11
MOTIF[MA0014.1:Pax5]4
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0059.1:Cmyc]4
MOTIF[MA0062.1:Gabp]4
MOTIF[MA0062.2:Gabp]13
MOTIF[MA0079.1:SP1]6
MOTIF[MA0079.2:SP1]12
MOTIF[MA0080.1:PU1]3
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]34
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0154.1:EBF]2
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]23
NON_SYNONYMOUS_CODING10264
NON_SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_INSERTION1
NON_SYNONYMOUS_CODING+CODON_INSERTION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION188
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS240
SPLICE_SITE_REGION63
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING223
START_GAINED383
START_LOST12
STOP_GAINED107
STOP_LOST23
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING10862
SYNONYMOUS_CODING+CODON_DELETION1
SYNONYMOUS_STOP15
None0

Type Total Variants
1234
MISSENSE10489
NONSENSE106
SILENT11100
None0

Type Total Variants
HIGH583
LOW11611
MODERATE10654
MODIFIER81
None0

Type Total Variants
.55698

Quality Value
Min13.5288
Average1021.67618216868
Max1484.14

Read Depth Value
Min2
Average71.04562102768502
Max1721

Type Total Variants
None0
2|22
21

Chromossome Total Variants
15604
102227
113491
122886
131282
141673
151849
162145
173211
18995
193597
23370
201458
21809
221366
33347
42335
52475
63486
72796
82019
92215
X1026
Y36