Name: azm002
Variants: 415268
Novel Variants: 9560 (Not in latest DbSNP Build)
| Type | Total Variants | |||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total SNVs | 415268 | 162248 0/1 | 3831 0/2 | 474 0/3 | 100 0/4 | 31 0/5 | 7 0/6 | 245445 1/1 | 639 1/2 | 113 1/3 | 18 1/4 | 6 1/5 | 1 1/6 | 1962 2/2 | 92 2/3 | 18 2/4 | 6 2/5 | 1 2/6 | 170 3/3 | 14 3/4 | 4 3/5 | 2 3/6 | 49 4/4 | 1 4/5 | 2 4/6 | 25 5/5 | 1 5/6 | 8 6/6 |
| Total Gene-associated SNVs | 415268 | 162248 0/1 | 3831 0/2 | 474 0/3 | 100 0/4 | 31 0/5 | 7 0/6 | 245445 1/1 | 639 1/2 | 113 1/3 | 18 1/4 | 6 1/5 | 1 1/6 | 1962 2/2 | 92 2/3 | 18 2/4 | 6 2/5 | 1 2/6 | 170 3/3 | 14 3/4 | 4 3/5 | 2 3/6 | 49 4/4 | 1 4/5 | 2 4/6 | 25 5/5 | 1 5/6 | 8 6/6 |
| Type | Total Variants |
|---|---|
| CODON_CHANGE_PLUS_CODON_DELETION | 100 |
| CODON_CHANGE_PLUS_CODON_INSERTION | 69 |
| CODON_DELETION | 53 |
| CODON_INSERTION | 66 |
| FRAME_SHIFT | 305 |
| FRAME_SHIFT+SPLICE_SITE_REGION | 37 |
| FRAME_SHIFT+START_LOST | 3 |
| FRAME_SHIFT+STOP_GAINED | 5 |
| FRAME_SHIFT+STOP_LOST | 3 |
| GENE_FUSION_REVERESE | 1 |
| MOTIF_DELETED | 2 |
| MOTIF[MA0003.1:Ap2alpha] | 16 |
| MOTIF[MA0014.1:Pax5] | 3 |
| MOTIF[MA0016.1:RXRA] | 2 |
| MOTIF[MA0024.1:E2F1] | 5 |
| MOTIF[MA0035.1:Gata1] | 1 |
| MOTIF[MA0036.1:Gata2] | 3 |
| MOTIF[MA0047.2:FOXA2] | 6 |
| MOTIF[MA0058.1:Max] | 19 |
| MOTIF[MA0059.1:Cmyc] | 7 |
| MOTIF[MA0062.1:Gabp] | 8 |
| MOTIF[MA0062.2:Gabp] | 27 |
| MOTIF[MA0065.1:PPARG] | 3 |
| MOTIF[MA0065.2:PPARG] | 3 |
| MOTIF[MA0079.1:SP1] | 13 |
| MOTIF[MA0079.2:SP1] | 17 |
| MOTIF[MA0080.1:PU1] | 5 |
| MOTIF[MA0080.2:PU1] | 4 |
| MOTIF[MA0093.1:USF1] | 16 |
| MOTIF[MA0095.1:Yy1] | 13 |
| MOTIF[MA0099.1:Cfos] | 3 |
| MOTIF[MA0099.2:AP1] | 7 |
| MOTIF[MA0105.1:NFKB] | 1 |
| MOTIF[MA0114.1:HNF4A] | 10 |
| MOTIF[MA0115.1:RNR1H2] | 1 |
| MOTIF[MA0138.2:Nrsf] | 16 |
| MOTIF[MA0139.1:CTCF] | 166 |
| MOTIF[MA0140.1:Tal1] | 2 |
| MOTIF[MA0147.1:Cmyc] | 7 |
| MOTIF[MA0148.1:FOXA1] | 7 |
| MOTIF[MA0154.1:EBF] | 6 |
| MOTIF[MA0159.1:RXR] | 2 |
| MOTIF[MA0162.1:Egr1] | 34 |
| MOTIF[MA0239.1:Pax5] | 1 |
| NON_SYNONYMOUS_CODING | 12569 |
| NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 273 |
| NON_SYNONYMOUS_START | 3 |
| PROTEIN_PROTEIN_INTERACTION_LOCUS | 5 |
| PROTEIN_STRUCTURAL_INTERACTION_LOCUS | 305 |
| SPLICE_SITE_REGION | 129 |
| SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION | 1 |
| SPLICE_SITE_REGION+CODON_DELETION | 1 |
| SPLICE_SITE_REGION+CODON_INSERTION | 1 |
| SPLICE_SITE_REGION+SYNONYMOUS_CODING | 277 |
| START_GAINED | 472 |
| START_LOST | 14 |
| START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION | 1 |
| START_LOST+CODON_DELETION | 2 |
| STOP_GAINED | 116 |
| STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION | 2 |
| STOP_GAINED+CODON_INSERTION | 1 |
| STOP_GAINED+SPLICE_SITE_REGION | 2 |
| STOP_LOST | 27 |
| STOP_LOST+SPLICE_SITE_REGION | 3 |
| SYNONYMOUS_CODING | 13472 |
| SYNONYMOUS_STOP | 9 |
| None | 0 |
| Type | Total Variants |
|---|---|
| . | 48303 |
| PASS | 245717 |
| VQSRTrancheSNP85.00to90.00 | 19506 |
| VQSRTrancheSNP90.00to97.00 | 46852 |
| VQSRTrancheSNP97.00to98.00 | 5426 |
| VQSRTrancheSNP98.00to99.00 | 9062 |
| VQSRTrancheSNP99.00to99.30 | 3965 |
| VQSRTrancheSNP99.30to99.40 | 1519 |
| VQSRTrancheSNP99.40to99.50 | 1742 |
| VQSRTrancheSNP99.50to99.60 | 1980 |
| VQSRTrancheSNP99.60to99.80 | 5586 |
| VQSRTrancheSNP99.80to99.90 | 5979 |
| VQSRTrancheSNP99.90to99.95 | 6358 |
| VQSRTrancheSNP99.95to100.00 | 13273 |
| Quality | Value |
|---|---|
| Min | 10.11 |
| Average | 6669.96131828105 |
| Max | 4054410.0 |
| Read Depth | Value |
|---|---|
| Min | 0 |
| Average | 11.306992111118603 |
| Max | 4412 |
| Type | Total Variants |
|---|---|
| None | 0 |