Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 4,561,832 | G→A | 9.1% | T291I (ACT→ATT) | yjiJ ← | DUF1228 family putative inner membrane MFS superfamily transporter |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 4,561,832 | 0 | G | A | 9.1% | 102.9 / 3.6 | 44 | T291I (ACT→ATT) | yjiJ | DUF1228 family putative inner membrane MFS superfamily transporter |
Reads supporting (aligned to +/- strand): ref base G (16/24); new base A (2/2); total (18/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.12e-01 |
GCGTCACAAAGCCTAAAAGATTGAGATTTCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCAGAGATGGGCGGTTAACAATGGTG > NC_000913_3_hsa_pgi/4561689‑4561979 | gCGTCACAAAGCCTAAAAGATTGAGATTTCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAagc > 1:318842/1‑149 (MQ=255) tgtccaAAGGCTAAAAGGTTGAGGTTTCCCGGGACGCTCAGTTGGGGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAATCCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAagcag < 2:484765/145‑1 (MQ=255) tCACAAAGCCTAAAAGATTGAGATTTCCCGGGACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAcacagc > 1:594953/1‑149 (MQ=255) cacaAAGCCTAAAAGATTGAGATTTCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGACGCGAGTCGCTGGCGAGAGTAAgaagca < 2:994950/149‑1 (MQ=255) caAAGCCTAAAAGCTTGAGATTTCCCGACACGCACATTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCCTAAAGGTACCGCCAAAACCAATACTGCTGATGCTAAGCAAGAAAGGCGACGCCCCGGCGAAAGAGAGCAGcaca > 2:217923/1‑149 (MQ=255) ccTAAAAGATTGAGATTTCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAATAAGCAGCACACAGAt > 1:621340/1‑149 (MQ=255) ccTAAAAGATTGAGATTTCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAATAAGCAGCACACAGAt > 1:621817/1‑149 (MQ=255) tGAGATGTCCCAGTACGCTCAGTTGGCTGGCGATAGGCATCACCAGAGATGTCGAGCCCATCAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTCCAcc < 2:762889/149‑1 (MQ=255) gaTTTCCCGGTACGCTCAGTTGGCGGGCGATAGACATCACCAGAGATGTCGTGCCCATAAAGGTACCGCGAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGGAAGCGGCACACAGATAGCCGccaccaac > 2:855715/1‑147 (MQ=255) tttCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCaa > 1:21078/1‑149 (MQ=255) gTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGcc < 2:681735/149‑1 (MQ=255) aGTTGGCGGGCGATAGACATCACCAGAAAAGGCGAGCCCACAAAGGGACCGCCAGAACCAAGACGGCTGATGAAAAGCAAGACAGGCACGTCGCCCACCAAAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTcaggca < 2:759906/149‑1 (MQ=255) tAGTGATCACCAGAGATGTCGTGCCCATAAAGGAACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGccccc < 1:850331/149‑1 (MQ=255) cAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTtg < 1:31175/149‑1 (MQ=255) tCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCAt > 1:816078/1‑149 (MQ=255) tCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCAt > 2:973309/1‑149 (MQ=255) cgcgCCCATAAAGGTACCGCCAACACCAAGACCGCTGATGATAAGCAAGAGAGGCGAGTCGCTGTCGAGAGTAAGCAGCACAAAGAGAGCCTCCACCAGCAAACTCTCCGTCAGGCACGTCAAAGCATCCTCACGTTTTGCTGCCCATa < 2:36953/146‑1 (MQ=255) gCCCAGAAAGGGACCGCCAAAACCGAGACTGCTGATGACAAGAAAGAGAGGCGATGCGCTCGCGAGAGTAAGCATCACACATATATCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATagcc < 2:53455/149‑1 (MQ=255) cccATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAATAAGCAGCACCCAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCCAAGTGATGCTGCCCATagcca < 2:621817/149‑1 (MQ=255) cccATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAATAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATagcca < 2:621340/149‑1 (MQ=255) aTAAAGGTACCGCCAAAACCAAGACTGCTGCTGATAAGCAAGAGAGGCGAATCGCTTGCGAGAGTAAGCAGCACACAGATAGCCTGTACCAGCAAATTCACCTTGAGCAAGAGCAAAGCTCCGCAACGTTTAGCTGCGCATagccagcc > 2:201857/1‑149 (MQ=255) gaaGGCACCGCCAAAACCAAGGCGGCTGATGATAACCAAGAGAGGCGAGTCGCTGGCCAGAGACAGCACCATACAGCTAGCCTGCTCCAGCAAATTCGCCGTCAAGCAGGGCAAATCCTCCCAACGTTTTGCTGCCCATAGCCAGCGaa < 2:362197/148‑1 (MQ=255) tACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCaa > 2:655787/1‑149 (MQ=255) cGCCAAAACCAAGACTGCGGATGAAAAGCAAGAGAGGCTAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCa < 2:365315/149‑1 (MQ=255) cGCAAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCCCAAGCAAATTCGACGTCAGCAAGGGCCAAGCCAACAATCGTTTTGCCGCTCATAGCCAGTCAAAGcttcca < 2:92692/149‑6 (MQ=255) ccAAAAACAAGACTGCTGATGATAAGCAAGAGAGGCGAGTTGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAAATCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAgg < 1:208990/149‑1 (MQ=255) gACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGATTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGAt > 1:956581/1‑149 (MQ=255) ctgctgATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCATGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATaa < 2:273413/149‑1 (MQ=255) tgttgaggaTAGGCAAGACGGGGGAGTCGCGGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCACCCAATGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAg < 2:72936/146‑1 (MQ=255) gtcgatgatATGCAAGAGAGGAGAGTCGCCGGCTATAGTAAGCAGCAAACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCCACGTTCTGCTGCCCATAGCCAGTCAACGCAACCAGGCACAATTGCTAAGc < 2:866860/146‑1 (MQ=255) ctgATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGcc < 2:318842/149‑1 (MQ=255) tgatgaTAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAg > 1:673906/1‑125 (MQ=255) tgatgaTAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAg < 2:673906/125‑1 (MQ=255) aGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGt > 1:163984/1‑149 (MQ=255) gCAAGCGAGCGGGGTCGGTCGCCAGAGTAATCAGCACACAGCTAGCCTGCACCAGCAAATTCGCCGTCAGCCAGGGTAAAGCCCCCCAACGTTTTGCGGCCCCTAGCCAGCTACAGCAACCAGGCACAATTGATAAGCCGACTAACGTc < 2:85364/149‑1 (MQ=255) cAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCACCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTcc > 1:784573/1‑149 (MQ=255) aaGAGAGCCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTTCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCa < 1:193565/149‑1 (MQ=255) tggggtgCGGGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCag < 2:753242/143‑1 (MQ=255) gCGAGTCGCTGGCGTGAGTAGGTAGCACACAGATAGCCTGCACCAGCAAGTTCGCCGTCAGGCAGGGCAAAGCCCCCGAACGTTTTGCTGCCCATAGCCAGCCAAAGCAATCTGGTACAATTGATAAGCCGACTAACGTCCAGAGATgg < 2:61756/149‑1 (MQ=255) gCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTGGCCGTCGGACAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGAACAATTGAAAAACCCACTAACGTCCAGAGATgg > 2:919213/1‑149 (MQ=255) cTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAg > 1:341281/1‑99 (MQ=255) cTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAg < 2:341281/99‑1 (MQ=255) gCGGGAGTAAGCCGCCTACAGATAGCCGGCACTAGCAAATTCGCCGTCAGGCAGTGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAATCAGGCACAGGTGATTAGCCCATTAAGGTTCGGAGATGGGCGGTTAACaa < 2:261573/149‑1 (MQ=255) gagaGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCTAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCAGAGATGGGCGGTTTACAATg > 2:929710/1‑149 (MQ=255) gagTAAGCAGCACACAGATAGCCTGTACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGTCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCAGAGATGGGCGGTTAACAATGGt < 2:896605/149‑1 (MQ=255) gagTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCGGGGCAAAGCCCCCCCACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCAGAGATGGGCGGTTAACAATGGt > 1:884163/1‑149 (MQ=255) agTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCAGAGATGGGCGGTTAACAATGGTg > 1:703874/1‑149 (MQ=255) | GCGTCACAAAGCCTAAAAGATTGAGATTTCCCGGTACGCTCAGTTGGCGGGCGATAGTCATCACCAGAGATGTCGTGCCCATAAAGGTACCGCCAAAACCAAGACTGCTGATGATAAGCAAGAGAGGCGAGTCGCTGGCGAGAGTAAGCAGCACACAGATAGCCTGCACCAGCAAATTCGCCGTCAGGCAGGGCAAAGCCCCCCAACGTTTTGCTGCCCATAGCCAGCCAAAGCAACCAGGCACAATTGATAAGCCGACTAACGTCCAGAGATGGGCGGTTAACAATGGTG > NC_000913_3_hsa_pgi/4561689‑4561979 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |