Name: grc14378020_exome
Variants: 55522
Novel Variants: 1487 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 55522 34087 0/1 21282 1/1 153 1/2
Total Gene-associated SNVs 55522 34087 0/1 21282 1/1 153 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION81
CODON_CHANGE_PLUS_CODON_INSERTION51
CODON_DELETION33
CODON_INSERTION40
FRAME_SHIFT147
FRAME_SHIFT+NON_SYNONYMOUS_CODING1
FRAME_SHIFT+SPLICE_SITE_REGION29
FRAME_SHIFT+START_LOST7
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]12
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]2
MOTIF[MA0059.1:Cmyc]3
MOTIF[MA0062.1:Gabp]4
MOTIF[MA0062.2:Gabp]14
MOTIF[MA0079.1:SP1]6
MOTIF[MA0079.2:SP1]14
MOTIF[MA0080.1:PU1]2
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]29
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0154.1:EBF]2
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]19
NON_SYNONYMOUS_CODING10403
NON_SYNONYMOUS_CODING+CODON_INSERTION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION199
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS239
SPLICE_SITE_REGION66
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING213
START_GAINED403
START_LOST8
STOP_GAINED137
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION2
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING10833
SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_INSERTION1
SYNONYMOUS_CODING+CODON_DELETION1
SYNONYMOUS_CODING+CODON_INSERTION1
SYNONYMOUS_STOP12
None0

Type Total Variants
1256
MISSENSE10631
NONSENSE138
SILENT11058
None0

Type Total Variants
HIGH602
LOW11591
MODERATE10812
MODIFIER78
None0

Type Total Variants
.55522

Quality Value
Min13.5317
Average982.039569617924
Max1484.14

Read Depth Value
Min2
Average67.02417059904182
Max2721

Type Total Variants
None0
2|22
22
51

Chromossome Total Variants
15627
102331
113432
122890
131229
141725
151954
162076
173258
18972
193536
23481
201513
21808
221311
33316
42309
52437
63184
72764
82131
92205
X995
Y38