| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,363 | +GC | intergenic (+587/+55) | 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 | 97.7% | 127.5 / ‑4.7 | 44 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); major base C (21/21); minor base T (1/0); total (22/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.95e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 95.2% | 127.9 / ‑6.3 | 44 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); major base G (21/19); minor base T (0/2); total (22/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.88e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGT > NC_000913_3_hsa_tpiA/4296276‑4296491 || gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAcc < 3:201618/150‑1 (MQ=9) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGACCAACGGGATTACCC‑‑CTCACCCGACATCAAGGCCTGATGCGACGCTTGGCGCGGCTTATGAGGCCTATCTTAACCGt > 3:142161/1‑150 (MQ=11) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTgg > 2:473250/1‑150 (MQ=255) cTTAACGCGTCTTATCAGGCCTACGCCAGCCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGt < 2:315770/150‑1 (MQ=255) aaCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa < 1:500416/150‑1 (MQ=255) cgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt > 2:619341/1‑150 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt < 2:568619/150‑1 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt > 4:100011/1‑150 (MQ=255) tCTTATCAGTCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCAGCCTACAGCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 2:27782/150‑1 (MQ=14) tttATCAGGCCGACGCCAGACAGCGCTATAGCCTGATTTAGCCTGATTTCGTAGGCCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCa < 4:23448/149‑1 (MQ=14) cgcaTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCa < 2:384481/147‑1 (MQ=255) cTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCa < 3:399779/150‑1 (MQ=255) ttATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGGCGGATAAGGCGCTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTCAGTTTTTCaa > 2:565426/1‑150 (MQ=14) gcaTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaa < 4:193281/148‑1 (MQ=255) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct > 4:421312/1‑150 (MQ=255) ggccgtcGCCAGACAGCGCAATAGCCTGATTGAGCGTGATTTGGTAGGTCGGATAAGGCGTTTACTC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGTCTATCTTAACCGTTGGTCAATTTTTCAAACTCtt < 2:326917/144‑1 (MQ=17) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAGCCGTCGGTTAATCTTTCATTCTCTTc > 2:457541/1‑150 (MQ=14) gCCTACGCCAGACAGCGCAATAGACTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTGATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTc > 2:216244/1‑150 (MQ=17) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCCTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTcaca > 2:527528/1‑150 (MQ=255) cGCCAGACAGCGCAATAGCGTGATTTAGCGTGATGATGTAGGTCGGATAAGGCGCTTA‑‑CGTCGCCTCCGACATGAATGCCCGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc < 2:196874/150‑1 (MQ=17) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAccc < 2:269913/150‑1 (MQ=255) ccAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg > 1:596629/1‑150 (MQ=255) ccAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg > 4:156325/1‑150 (MQ=255) ccAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACCCCAACCGGCGCTTAAGTTTTCAAACTCGTCACACCCg > 2:405384/1‑150 (MQ=11) cAATAGCCTGATTTAGCTTGATTTTGTAGTTCTGATAATGCGTTTACTC‑‑CGCAGCCGACATCAAGGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc < 1:374520/150‑1 (MQ=18) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAccc > 4:311794/1‑150 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAGCTCTTCACACCCGGTATCAAACCCTTCCa < 3:43679/150‑1 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa > 2:454456/1‑150 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa < 2:133673/150‑1 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa > 1:94492/1‑150 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt > 2:47644/1‑138 (MQ=17) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt < 1:47644/138‑1 (MQ=17) aTTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa < 2:52826/150‑1 (MQ=255) aTTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa < 1:212703/150‑1 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 1:552050/150‑1 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 1:290450/150‑1 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGAGACGCTTGCCGCGTCTTATCAGGAATATCTTAACCGTTGGTTAATTTCTCAAAATCTTCACCCCCGGTATCAAACCCTTCCATACAg < 1:410204/150‑1 (MQ=18) gTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAgg > 4:239375/1‑150 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt > 2:69641/1‑150 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt > 3:6925/1‑150 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt > 4:123719/1‑150 (MQ=255) tGTAGTTCGGATAAGTCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAcc < 3:140145/150‑1 (MQ=25) tAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAg > 1:403535/1‑150 (MQ=255) aGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGt > 4:161720/1‑150 (MQ=255) || GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGT > NC_000913_3_hsa_tpiA/4296276‑4296491 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |