Name: na12878 compound_heterozygous
Variants: 19147
Novel Variants: 235 (Not in latest DbSNP Build)
| Type | Total Variants |
|---|---|
| MOTIF[MA0062.1:Gabp] | 1 |
| MOTIF[MA0065.1:PPARG] | 1 |
| MOTIF[MA0095.1:Yy1] | 2 |
| NON_SYNONYMOUS_CODING | 8577 |
| NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 178 |
| PROTEIN_PROTEIN_INTERACTION_LOCUS | 2 |
| PROTEIN_STRUCTURAL_INTERACTION_LOCUS | 290 |
| SPLICE_SITE_REGION | 2 |
| SPLICE_SITE_REGION+SYNONYMOUS_CODING | 197 |
| START_GAINED | 5 |
| START_LOST | 3 |
| STOP_GAINED | 84 |
| STOP_GAINED+SPLICE_SITE_REGION | 1 |
| STOP_LOST | 4 |
| STOP_LOST+SPLICE_SITE_REGION | 2 |
| SYNONYMOUS_CODING | 9324 |
| SYNONYMOUS_STOP | 9 |
| None | 0 |
| Type | Total Variants |
|---|---|
| ESPStandard;HARD_TO_VALIDATE;Indel;SnpCluster | 4 |
| ESPStandard;HARD_TO_VALIDATE;LowQual | 182 |
| ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster | 7 |
| ESPStandard;HARD_TO_VALIDATE;SnpCluster | 50 |
| ESPStandard;Indel | 2 |
| ESPStandard;Indel;LowQual | 2 |
| ESPStandard;Indel;SnpCluster | 2 |
| ESPStandard;LowQual | 399 |
| ESPStandard;LowQual;SnpCluster | 8 |
| ESPStandard;SnpCluster | 69 |
| FDRtranche1.00to10.00+ | 995 |
| HARD_TO_VALIDATE;Indel | 2 |
| HARD_TO_VALIDATE;Indel;SnpCluster | 3 |
| HARD_TO_VALIDATE;SnpCluster | 31 |
| Indel | 13 |
| LowQual | 58 |
| LowQual;SnpCluster | 1 |
| PASS | 17208 |
| SnpCluster | 111 |
| Quality | Value |
|---|---|
| Min | 10.05 |
| Average | 5008.66471457671 |
| Max | 160446.0 |
| Read Depth | Value |
|---|---|
| Min | 1 |
| Average | 205.62484984592888 |
| Max | 4057 |
| Type | Total Variants |
|---|---|
| None | 0 |