Name: s75952_filtered_snps_and_indels
Variants: 45623
Novel Variants: 907 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 45623 27205 0/1 18325 1/1 93 1/2
Total Gene-associated SNVs 45623 27205 0/1 18325 1/1 93 1/2

Type Total Variants
22
CODON_CHANGE_PLUS_CODON_DELETION148
CODON_CHANGE_PLUS_CODON_INSERTION93
CODON_DELETION65
CODON_INSERTION77
FRAME_SHIFT217
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST4
GENE_FUSION1
MOTIF[MA0003.1:Ap2alpha]13
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0062.1:Gabp]5
MOTIF[MA0062.2:Gabp]19
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]13
MOTIF[MA0080.1:PU1]2
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]8
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]33
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0154.1:EBF]4
MOTIF[MA0162.1:Egr1]21
NON_SYNONYMOUS_CODING10099
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION209
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS250
SPLICE_SITE_REGION28
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING242
START_GAINED307
START_LOST8
STOP_GAINED78
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST16
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11186
SYNONYMOUS_STOP10
TRANSCRIPT3
None0

Type Total Variants
1416
MISSENSE10336
NONSENSE79
SILENT11438
None0

Type Total Variants
HIGH632
LOW11854
MODERATE10694
MODIFIER89
None0

Type Total Variants
PASS45623

Quality Value
Min10.15
Average1516.68100979743
Max83694.77

Read Depth Value
Min0
Average81.6206518641913
Max2444

Type Total Variants
None0

Chromossome Total Variants
14667
101881
113315
122405
13792
141758
151472
162013
172700
18685
193592
22841
201158
21689
221196
32465
41724
51946
61818
72333
81497
92016
M22
X626
Y12