| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,362:1 | +CG | 100% | intergenic (+586/+56) | gltP → / ← yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 1 | . | C | 97.9% | 96.8 / ‑6.1 | 36 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/0); major base C (20/14); minor base A (1/0); total (22/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 97.2% | 100.9 / ‑2.3 | 36 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/0); new base G (21/14); total (22/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.96e-01 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
CGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296277‑4296501 || cGACGCTTAACGCGTCTTATCAGGCCTAAGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAcc > 2:369184/1‑149 (MQ=2) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGCTGCGACGCTTGCCGCGTCCTATCAGGCCTATCTTAACCg > 2:87613/1‑149 (MQ=11) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 2:676994/149‑1 (MQ=255) tAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGtt > 1:180855/1‑149 (MQ=255) aaCGCGTCTTATCAGGCCTACGCCCGACAGCGCAATAGCCTGATTTAGCGTGATTTTTTAGGTCGGATAAGGCGTTTACGC‑C‑GCCTCCGACATCAATGCCTGATGCGCCGCTTTCCGCGGCTTTTCAGGCCTATCTTACCCGTTGGttt > 2:125818/1‑148 (MQ=11) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCATTTACGC‑C‑GCATACGAAATGTTTGGTTTAGGCGTGGCTAGCCTCGTCTTAGCAGGCCTATCTTAACCGTTGGTTaa > 2:667915/1‑149 (MQ=11) ttATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTAAGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTCTTCa > 1:521979/1‑149 (MQ=255) tATCAGGCCTACGCCAGACAGCACAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaa > 2:638869/1‑149 (MQ=255) aTCAGGCCTACGCCGGACGGCGCAATAGCCTGATTTAGCGTCATTTTGTAGGTCGGATAAGGCGTTTCCGC‑C‑GCATCCGACATCAAGGCCTGATGCGACGCTTGCCGCGTCGTAGCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:353886/149‑1 (MQ=14) cGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCATTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCacac > 1:458173/1‑149 (MQ=255) cAGACAGCGAAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CGCAGCATCCGACATCGATGCCTGATGCGACGCTTGCCGCGTATTATGAGGGCTATCTTAACCGTTGCTTAAGTTTTCAACTTCTTCACACACg > 1:235984/1‑149 (MQ=14) gACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTAGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCgtt > 2:627580/1‑147 (MQ=17) aCAGCCCAATAGCCGGATTTAGCGAGATTTTGTAGTTCGGATAAGGCATTTACGC‑C‑GCACCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 2:620484/149‑1 (MQ=18) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:672056/149‑1 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGCTATCAAAcc > 1:203147/1‑149 (MQ=255) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc > 1:269809/1‑122 (MQ=255) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 2:269809/122‑1 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGGTAAGGCGTTTACGC‑C‑GCATGCGGCATCAATGCCTGATGCGGCGCTTGCCGCGTCTTATCGGGCTTATTTTAACGGTTGGTTAATTTTTCAAACTCTTCTCTCCCGGTATCAAGCACTTcc > 2:1366/1‑149 (MQ=17) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa > 2:576700/1‑149 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:633919/149‑1 (MQ=255) aTTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATAc > 2:248076/1‑149 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa < 1:351624/149‑1 (MQ=255) ttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 2:213003/149‑1 (MQ=255) aGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGATTGCCGCGTGTTATCAGGCCTATCTTAACCGTTGGTCAATTTTTCAAACTCTTCACCCCCGGTAACAAACCCTTCCATACACCt > 1:312798/1‑149 (MQ=18) cGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATCCAGCTCa > 1:523709/1‑149 (MQ=255) cGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCCCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCCCa > 2:475515/1‑149 (MQ=21) gTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGCCATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATATTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAg < 1:99582/149‑1 (MQ=21) tGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAgg < 1:605727/149‑1 (MQ=255) aTTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGtt < 1:169508/149‑1 (MQ=255) tttGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCCTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCa > 2:633927/1‑149 (MQ=255) ttGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCCAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa < 1:643012/149‑1 (MQ=255) gTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAACCGGTATAAAACCCTTCCATACAGCTCAGGTTCAACCAGTg > 1:363950/1‑149 (MQ=25) gTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTCTTCAAACCCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCTACCaagt > 1:246632/1‑146 (MQ=25) aTAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTCTCAAACCCTTCCATCAAGCCAAGGTTCAACCACTCCAgct > 2:502680/1‑148 (MQ=21) tAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgcgc < 1:41597/149‑1 (MQ=255) ggCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATAATCTGCGCCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt < 1:515211/149‑1 (MQ=25) || CGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296277‑4296501 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |