Name: grc14378018_exome
Variants: 57519
Novel Variants: 1292 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 57519 35874 0/1 21437 1/1 208 1/2
Total Gene-associated SNVs 57519 35874 0/1 21437 1/1 208 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION94
CODON_CHANGE_PLUS_CODON_INSERTION50
CODON_DELETION31
CODON_INSERTION40
FRAME_SHIFT155
FRAME_SHIFT+NON_SYNONYMOUS_CODING8
FRAME_SHIFT+NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION2
FRAME_SHIFT+SPLICE_SITE_REGION29
FRAME_SHIFT+START_LOST6
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST1
FRAME_SHIFT+SYNONYMOUS_CODING1
FRAME_SHIFT+SYNONYMOUS_STOP1
MOTIF[MA0003.1:Ap2alpha]12
MOTIF[MA0014.1:Pax5]4
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]5
MOTIF[MA0059.1:Cmyc]4
MOTIF[MA0062.1:Gabp]7
MOTIF[MA0062.2:Gabp]17
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]11
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]6
MOTIF[MA0139.1:CTCF]32
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0154.1:EBF]2
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]24
NON_SYNONYMOUS_CODING10844
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+CODON_INSERTION2
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION198
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS246
SPLICE_SITE_REGION68
SPLICE_SITE_REGION+SYNONYMOUS_CODING230
START_GAINED428
START_LOST15
START_LOST+CODON_INSERTION1
STOP_GAINED243
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_DELETION1
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING10629
SYNONYMOUS_CODING+CODON_DELETION2
SYNONYMOUS_CODING+CODON_INSERTION1
SYNONYMOUS_STOP12
None0

Type Total Variants
1336
MISSENSE11080
NONSENSE243
SILENT10871
None0

Type Total Variants
HIGH745
LOW11440
MODERATE11263
MODIFIER82
None0

Type Total Variants
.57519

Quality Value
Min13.5423
Average1143.405511557
Max1484.14

Read Depth Value
Min2
Average86.3204680192632
Max2916

Type Total Variants
None0
41
2|22
23
51

Chromossome Total Variants
15863
102390
113476
122985
131296
141728
151923
162182
173428
18975
193700
23505
201523
21926
221345
33336
42455
52553
63516
72948
82058
92311
X1059
Y38