Name: rbna2s annoted
Variants: 226835
Novel Variants: 4825 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION123
CODON_CHANGE_PLUS_CODON_INSERTION91
CODON_DELETION70
CODON_INSERTION88
FRAME_SHIFT177
FRAME_SHIFT+SPLICE_SITE_REGION45
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]42
MOTIF[MA0014.1:Pax5]13
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]11
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0058.1:Max]32
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]13
MOTIF[MA0062.2:Gabp]38
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]33
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]4
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]8
MOTIF[MA0095.1:Yy1]15
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]2
MOTIF[MA0114.1:HNF4A]14
MOTIF[MA0138.1:Nrsf]2
MOTIF[MA0138.2:Nrsf]13
MOTIF[MA0139.1:CTCF]138
MOTIF[MA0147.1:Cmyc]16
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]7
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]56
NON_SYNONYMOUS_CODING11807
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION239
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS278
SPLICE_SITE_REGION57
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING280
START_GAINED360
START_LOST11
STOP_GAINED91
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST23
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING12677
SYNONYMOUS_STOP12
TRANSCRIPT6
None0

Type Total Variants
1810
MISSENSE12083
NONSENSE92
SILENT12969
None0

Type Total Variants
HIGH644
LOW13607
MODERATE12421
MODIFIER282
None0

Type Total Variants
.226835

Quality Value
Min20.0
Average52.9665175127295
Max99.0

Read Depth Value
Min0
Average0.0
Max0

Type Total Variants
None0

Chromossome Total Variants
121172
1010537
1111546
1210613
135043
146521
157918
1610264
1711983
184476
1912513
216578
205138
214146
225388
312182
411287
59620
613024
712341
88336
99980
X5107
Y1122