Name: nunez_a-2
Variants: 62528
Novel Variants: 2060 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 62528 33775 0/1 28651 1/1 102 1/2
Total Gene-associated SNVs 62528 33775 0/1 28651 1/1 102 1/2

Type Total Variants
25
CODON_CHANGE_PLUS_CODON_DELETION146
CODON_CHANGE_PLUS_CODON_INSERTION104
CODON_DELETION53
CODON_INSERTION79
FRAME_SHIFT226
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST6
GENE_FUSION3
GENE_FUSION_REVERESE1
MOTIF[MA0003.1:Ap2alpha]12
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]6
MOTIF[MA0062.2:Gabp]22
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]16
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]43
MOTIF[MA0147.1:Cmyc]6
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]27
NON_SYNONYMOUS_CODING10660
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION224
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS248
SPLICE_SITE_REGION49
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING250
START_GAINED384
START_LOST13
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED90
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST21
STOP_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11382
SYNONYMOUS_STOP9
TRANSCRIPT2
None0

Type Total Variants
1560
MISSENSE10923
NONSENSE91
SILENT11641
None0

Type Total Variants
HIGH668
LOW12164
MODERATE11269
MODIFIER114
None0

Type Total Variants
PASS62528

Quality Value
Min10.15
Average1901.83965423512
Max73884.77

Read Depth Value
Min0
Average101.14272006141249
Max3287

Type Total Variants
None0

Chromossome Total Variants
16337
102658
113943
123172
131111
142640
152216
162600
173728
181080
194502
23863
201715
21909
221751
33277
42430
52596
62625
73499
82129
92844
M25
X860
Y18