Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 3,985,642 G→A 8.7% S122S (AGC→AGT aslA ← putative Ser‑type periplasmic non‑aryl sulfatase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA3,985,6420GA 8.7% 101.5 / 4.0 50S122S (AGC→AGTaslAputative Ser‑type periplasmic non‑aryl sulfatase
Reads supporting (aligned to +/- strand):  ref base G (21/22);  new base A (2/2);  total (23/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.58e-02

GTGGTTAACCCTTGCAGCCCGCCCGGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTACCGGTTTTTTTCTCAAGTTCTGCCAGCTT  >  NC_000913_3_hsa_tpiA/3985496‑3985788
                                                                                                                                                  |                                                                                                                                                  
cgggTGAACCCTTGCAGCCCGCCCGGTTCCCCGCACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGTTTGAGAATACGCCGAATTTACAATCAGCCCctggct                                                                                                                                                  <  2:589088/147‑1 (MQ=255)
 tGGTTAACCCTTGCAGCCCGCCCGGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTCAAATCAGCCCctggctg                                                                                                                                                 >  1:590096/1‑149 (MQ=255)
  ggTTAACCCTTGCAGCCCGCCCGGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCctggctgg                                                                                                                                                <  1:672352/149‑1 (MQ=255)
    ttAACCCTTGCAGCCCGCCCGGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCa                                                                                                                                              >  1:416354/1‑149 (MQ=255)
                 cccgcccgGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGatat                                                                                                                                 >  2:337586/1‑149 (MQ=255)
                   cgcccgGTTGCGGGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGCGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCt                                                                                                                               <  2:675719/149‑1 (MQ=255)
                   cgcccgGTTGCACGTACATTGGTGGCATCAGATTGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGCGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGAGTCGATATCt                                                                                                                               <  2:284260/149‑1 (MQ=255)
                     cccgGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAATCTTCTCCGGTGAGAATGGTGGCGCGGGGTGGGGCAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATTAGCCCCTGGCTGGCAACTGCGTCGATATCTgg                                                                                                                             >  2:114542/1‑149 (MQ=255)
                      tcgGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGgt                                                                                                                            <  1:213290/148‑1 (MQ=255)
                         tgtGCCCGTAGATTGGCGGGATGAGAAGGCCGTGGTGGATGGAGTATTGTCCTGTGAGAATGGTGGCTCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTa                                                                                                                         <  2:358375/147‑1 (MQ=255)
                         gTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTCGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTa                                                                                                                         <  1:58224/149‑1 (MQ=255)
                          ttGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAg                                                                                                                        >  1:475600/1‑149 (MQ=255)
                           tGCCCGTACATTGGCGGTCTCAGAATGCCGTGGTGAATGGTGTATTGCCCGTTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGTATACGCCGATGTTAAAATCACCCCCTGCCTGGCAACGGCGTCGATATCTGGTGTAgg                                                                                                                       <  2:52211/149‑1 (MQ=255)
                           tGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGCTGTTGTGTTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAgg                                                                                                                       <  1:303026/149‑1 (MQ=255)
                            gCCCGGACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGCCTGGCAACGGCGTCGATATCTGGTGTAggg                                                                                                                      <  2:625988/149‑1 (MQ=255)
                              ccGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGtt                                                                                                                    >  2:378268/1‑149 (MQ=255)
                              ccGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGtt                                                                                                                    >  1:553941/1‑149 (MQ=255)
                               cGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGTGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTa                                                                                                                   <  2:617320/149‑1 (MQ=255)
                                   cATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGATGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCa                                                                                                               >  1:360134/1‑149 (MQ=255)
                                     ttGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTTGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCAcc                                                                                                             <  1:132636/149‑1 (MQ=255)
                                        gcggcATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGcc                                                                                                          <  1:674448/149‑1 (MQ=255)
                                            cATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCAcgc                                                                                                      <  2:448056/149‑1 (MQ=255)
                                            cATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCAcgc                                                                                                      >  2:633052/1‑149 (MQ=255)
                                             aTCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCAcgcc                                                                                                     >  1:229379/1‑149 (MQ=255)
                                               cAGAATGCCGTGGTGGATGGAGTTGTGGCCGGTGAGAATGGTGGCGCGGGTGGGGGAAGAGCTTGTTTGAGAATACCCCGAAGTTCAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCAcgccgc                                                                                                   <  2:626434/149‑1 (MQ=255)
                                                 gAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCAcgccgcga                                                                                                 >  2:560543/1‑147 (MQ=255)
                                                          ggtggATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTaaaa                                                                                        <  1:273702/149‑1 (MQ=255)
                                                          ggtggATGGAGTATTGGCGGGGGAGAATGGTGGCGCGGGGTGGGGAAGAGCGTGGTTGGGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTAGATTGCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTaaaa                                                                                        <  2:463783/149‑1 (MQ=255)
                                                            tggatggaGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAAcc                                                                                      <  2:475600/149‑1 (MQ=255)
                                                            tggatggaGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACACACCGCCACGCCGCCACCGCTAAAAcc                                                                                      >  1:150420/1‑149 (MQ=255)
                                                                tggaGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACg                                                                                  >  2:540854/1‑149 (MQ=255)
                                                                 ggaTTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATTTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGt                                                                                 <  2:678658/149‑1 (MQ=255)
                                                                 ggaGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGTCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGt                                                                                 <  1:671974/149‑1 (MQ=255)
                                                                  gaGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGTAAGTACTTGGTTGAGACTAGGGAAAAAATCACCACTGCCGCTGGCTGGCAACGGCGTCGAGATGTGTTGGAGGGGTGTGCACCGCCACGCAGCCGCCGTTGAAACCGACGtc                                                                                >  2:634142/1‑149 (MQ=255)
                                                                  gaGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACgcc                                                                                >  2:311746/1‑147 (MQ=255)
                                                                              gTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTGGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCcac                                                                    >  1:410701/1‑149 (MQ=255)
                                                                                      ggtggAGCGGTCGGGGCAAGAGTTAAGTTGAGAATACGTCGAAGTTAAAGACAGTCCCTGCCTGTAAACGCCGTCAATAAATGGTGTAGCGTTATCCACCGCCACGACGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCa                                                            <  2:588737/149‑1 (MQ=255)
                                                                                       gtggCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAg                                                           >  1:454854/1‑149 (MQ=255)
                                                                                            gcgGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGCAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCAGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGa                                                      >  1:16485/1‑149 (MQ=255)
                                                                                             cgGGTTGGTGAAGAGTGTGGTTGAGACGACGCCGAAGTTAAAATCAGCCCCTGGCTTGCAACGGCGTCGATAACTGGTGTCGCCTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGaa                                                     <  1:257664/149‑1 (MQ=255)
                                                                                                     ggAAGAGCTTGGTTGGGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAACca                                             <  2:266754/149‑1 (MQ=255)
                                                                                                      gAAGCGCCTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGCCATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTACAACCGAAGCCCATCCAGCACCCATCCTCCAGCAAAGAaactacacc                                            >  2:10319/1‑146 (MQ=255)
                                                                                                                    agaATACGCCGAAGTTAAAATCAGCCCCTGGCTGGTAACGGCGTAGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTAc                              <  1:118717/149‑1 (MQ=255)
                                                                                                                         accccGAAGTTAAAACTAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCCTCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTACCGGtt                         <  2:447707/146‑1 (MQ=255)
                                                                                                                             cGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCCCGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCCCATCGTCCAGCAAGAAAACAACCACATTCGGTTTATTACCGGtttttt                     >  1:427489/1‑149 (MQ=255)
                                                                                                                             cGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAACCAACCCCATTAGGTTGCTTACCGGtttttt                     >  2:505583/1‑149 (MQ=255)
                                                                                                                              gAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTACCGGttttttt                    <  1:162994/149‑1 (MQ=255)
                                                                                                                                        tCAGCCCCTGACTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTcc                                                             >  2:229719/1‑98 (MQ=255)
                                                                                                                                        tCAGCCCCTGACTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTcc                                                             >  2:229692/1‑98 (MQ=255)
                                                                                                                                        tCAGCCCCTGACTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTcc                                                             <  1:229719/98‑1 (MQ=255)
                                                                                                                                        tCAGCCCCTGACTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTcc                                                             <  1:229692/98‑1 (MQ=255)
                                                                                                                                        cccgCCCCTGGCTGCGACCGGGTGCGTTATCGGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGCCGCCCATCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTACCGGTTTTTTTCTCAAGTTCt          <  2:288158/146‑1 (MQ=255)
                                                                                                                                            ccccTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAATCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAAGCACATTAGGATTCTTATCGGTTTTTTTGTCAAGATCTGctg      >  2:78232/1‑147 (MQ=255)
                                                                                                                                                gtgctggcACCGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTACCGGTTTTTTTCTCAAGTTCTGCCAGCtt  <  2:244416/147‑1 (MQ=255)
                                                                                                                                                  |                                                                                                                                                  
GTGGTTAACCCTTGCAGCCCGCCCGGTTGCCCGTACATTGGCGGCATCAGAATGCCGTGGTGGATGGAGTATTGTCCGGTGAGAATGGTGGCGCGGGTTGGGGAAGAGCTTGGTTGAGAATACGCCGAAGTTAAAATCAGCCCCTGGCTGGCAACGGCGTCGATATCTGGTGTAGGGTTACCCACCGCCACGCCGCCACCGTTAAAACCGACGTCCATCCAGCCCACATCGTCCAGCAAGAAAACAACCACATTCGGTTTCTTACCGGTTTTTTTCTCAAGTTCTGCCAGCTT  >  NC_000913_3_hsa_tpiA/3985496‑3985788

Alignment Legend
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: