Name: grc14378018_exome
Variants: 57519
Novel Variants: 1292 (Not in latest DbSNP Build)
| Type | Total Variants |
|---|---|
| CODON_CHANGE_PLUS_CODON_DELETION | 94 |
| CODON_CHANGE_PLUS_CODON_INSERTION | 50 |
| CODON_DELETION | 31 |
| CODON_INSERTION | 40 |
| FRAME_SHIFT | 155 |
| FRAME_SHIFT+NON_SYNONYMOUS_CODING | 8 |
| FRAME_SHIFT+NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 2 |
| FRAME_SHIFT+SPLICE_SITE_REGION | 29 |
| FRAME_SHIFT+START_LOST | 6 |
| FRAME_SHIFT+STOP_GAINED | 2 |
| FRAME_SHIFT+STOP_LOST | 1 |
| FRAME_SHIFT+SYNONYMOUS_CODING | 1 |
| FRAME_SHIFT+SYNONYMOUS_STOP | 1 |
| 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_CODING | 10844 |
| NON_SYNONYMOUS_CODING+CODON_DELETION | 1 |
| NON_SYNONYMOUS_CODING+CODON_INSERTION | 2 |
| NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 198 |
| NON_SYNONYMOUS_START | 1 |
| PROTEIN_PROTEIN_INTERACTION_LOCUS | 5 |
| PROTEIN_STRUCTURAL_INTERACTION_LOCUS | 246 |
| SPLICE_SITE_REGION | 68 |
| SPLICE_SITE_REGION+SYNONYMOUS_CODING | 230 |
| START_GAINED | 428 |
| START_LOST | 15 |
| START_LOST+CODON_INSERTION | 1 |
| STOP_GAINED | 243 |
| STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION | 1 |
| STOP_GAINED+CODON_DELETION | 1 |
| STOP_GAINED+CODON_INSERTION | 2 |
| STOP_GAINED+SPLICE_SITE_REGION | 1 |
| STOP_LOST | 22 |
| STOP_LOST+SPLICE_SITE_REGION | 3 |
| SYNONYMOUS_CODING | 10629 |
| SYNONYMOUS_CODING+CODON_DELETION | 2 |
| SYNONYMOUS_CODING+CODON_INSERTION | 1 |
| SYNONYMOUS_STOP | 12 |
| None | 0 |
| Type | Total Variants |
|---|---|
| None | 0 |
| Type | Total Variants |
|---|---|
| . | 57519 |
| Quality | Value |
|---|---|
| Min | 13.5423 |
| Average | 1143.4055115562 |
| Max | 1484.14 |
| Read Depth | Value |
|---|---|
| Min | 2 |
| Average | 86.3204680192632 |
| Max | 2916 |