Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 4,289,849 C→T 8.0% G20G (GGC→GGT)  nrfC → formate‑dependent nitrite reductase, 4Fe4S subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,289,8490CT 8.0% 129.2 / 2.1 52G20G (GGC→GGT) nrfCformate‑dependent nitrite reductase, 4Fe4S subunit
Reads supporting (aligned to +/- strand):  ref base C (23/24);  new base T (2/2);  total (25/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.08e-01

GATTAAGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCGTCTCGCGCCTGA  >  NC_000913_3_hsa_tpiA/4289703‑4289997
                                                                                                                                                  |                                                                                                                                                    
gATTAAGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCAc                                                                                                                                                    <  2:391336/149‑1 (MQ=255)
 aTTAAGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCAcc                                                                                                                                                   >  1:79463/1‑149 (MQ=255)
 aTTAAGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGCCGGCGTGCTGGCAGCCGTCAGCGGCAcg                                                                                                                                                   >  2:377364/1‑148 (MQ=255)
   tAAGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCTGCTTGCTGGCAGCCGTCAGCGGCACCGc                                                                                                                                                 <  1:682856/149‑1 (MQ=255)
   tAAGATTTGCGTCGATTGCAACAGCGATCAGCGCACAAATCCGAACTTTAAACCGGCGACTGTTACGTGGCATAAGGAGCAGACATGACCTGATATCGTCGACAATTTCTCAACGGCGACGGCGTGATGGCACCCGTCAGCGACAgcgc                                                                                                                                                 >  2:117905/1‑149 (MQ=255)
    aaGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAACCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCa                                                                                                                                                <  2:550131/149‑1 (MQ=255)
             gTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCgtg                                                                                                                                       >  1:254138/1‑149 (MQ=255)
                  gtggcacgGCGATCAGCGCACGAAGCCGAACTTTAACTCGGCGTGTGTTGCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGGTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGc                                                                                                                                  <  2:499986/145‑1 (MQ=255)
                     ccACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTACTTAAGGAGCATCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGaa                                                                                                                               >  1:649951/1‑149 (MQ=255)
                       acaGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGaaaa                                                                                                                             >  1:369398/1‑149 (MQ=255)
                             aTCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCTGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGa                                                                                                                       <  2:685512/149‑1 (MQ=255)
                                     acaaaTCCGAACTTTAACCCTGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCCCCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAAt                                                                                                               <  1:295192/146‑1 (MQ=255)
                                     aCCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCCGCCATCACCCGGTCTCTTCGCCTGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGGGAACACGTTGAACATccag                                                                                                               >  2:420023/1‑146 (MQ=255)
                                        actCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATggg                                                                                                            <  1:106809/147‑1 (MQ=255)
                                        aaTCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGCCTTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATggg                                                                                                            <  1:502312/149‑1 (MQ=255)
                                        aaTCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATggg                                                                                                            <  1:31670/149‑1 (MQ=255)
                                             gAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCg                                                                                                       >  1:322457/1‑149 (MQ=255)
                                                      cccGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGAGACAAGGTTGAATATCAATGGGGTGCGTTACGGCAt                                                                                              >  2:552247/1‑149 (MQ=255)
                                                            ggcTGGTCCGTGGCTTAAGGAGCAGCCTTGCCCGGGTCGCGGCGCCAGTGTGTCACCGGCGGCGGCGGGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTTGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTTCGGCAGGGTGCa                                                                                        <  2:424412/147‑1 (MQ=255)
                                                             gctgtcgcGTGGCTTAAGGAGCGGCCATGACCTTGTCTCGGCGCCAGTTTCTCGCCGGCGTCGGCGTGCTGGCAGCCGGCAGCGGCACCGCAGGGCGCGTGGTGGTGGTCAGGTTTAATATTCATGTGGTGCGTTACGGCATGGTGCAt                                                                                       <  2:287470/142‑1 (MQ=255)
                                                               tGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGa                                                                                     >  1:9854/1‑149 (MQ=255)
                                                                gTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGTACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGAc                                                                                    >  2:384972/1‑149 (MQ=255)
                                                                gTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGTACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGAc                                                                                    >  2:384973/1‑149 (MQ=255)
                                                                   aacctgattAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCGTGCCGAg                                                                                 >  2:634633/8‑149 (MQ=255)
                                                                          gtAAGGAGCAGCCCTGACCGGGGGTCGTCGCCAGTTTCTCCCCGGCGTCGGCGTGCTGGCAGTCGTCAGCGGCACCGGAGGGCGCGTGGTGGCGAAAACTTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTAt                                                                          <  2:388134/148‑1 (MQ=255)
                                                                            aaGGAGCAGGCATGACCTGGGCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGc                                                                        <  1:87654/149‑1 (MQ=255)
                                                                                 gcagcCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCgg                                                                   <  2:496193/149‑1 (MQ=255)
                                                                                  cagcCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGc                                                                  >  1:582664/1‑149 (MQ=255)
                                                                                     ccATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGt                                                               >  2:315221/1‑149 (MQ=255)
                                                                                     ccATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCGGt                                                               >  2:219884/1‑149 (MQ=255)
                                                                                            cTGTTCTCGTCGCCAGTTTCTCACCGGTCTCGGCGTGCTGGGAGCCGGCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCt                                                        <  1:90676/149‑1 (MQ=255)
                                                                                               gTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTa                                                     >  1:305721/1‑149 (MQ=255)
                                                                                                tctcGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCCCCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGGAt                                                    >  1:290659/1‑149 (MQ=255)
                                                                                                tctcGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGGCGTTGTGCATCCGCTGTCCCGCCTGTAt                                                    >  2:639059/1‑149 (MQ=255)
                                                                                                   cgtcgCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGTACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGa                                                 <  1:384973/149‑1 (MQ=255)
                                                                                                   cgtcgCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGTACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGa                                                 <  1:384972/149‑1 (MQ=255)
                                                                                                       gCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGAATGTGGCATGACTAGACGTTCTACAGCAGTGGTACCGCCCGTATGGATACt                                             >  2:626934/1‑149 (MQ=255)
                                                                                                        ccAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCtt                                            <  1:545284/149‑1 (MQ=255)
                                                                                                        ccAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCtt                                            <  1:544993/149‑1 (MQ=255)
                                                                                                                    cggcgtcggcgtGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGa                                >  1:269451/1‑149 (MQ=255)
                                                                                                                      gcgtcggcgtGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAAc                              <  1:237627/149‑1 (MQ=255)
                                                                                                                      gcgtcggcgtGCTGGAAGGTGGCAGCGGCACCGCAGGGCGCGGGGTGGCGAAAACGTGGAATATCAATGGGGTGCGTTACGGAATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAAc                              <  2:324646/149‑1 (MQ=255)
                                                                                                                        gtcggcgtGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATTGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACaa                            <  2:539745/149‑1 (MQ=255)
                                                                                                                              gtGCGGGCAGCCGTCAGGGGGACCGGAGGGCGCGTGGTGGCGAAAACGTGGAATATCAATGGGGTGCGTTAGGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGcc                      <  2:167878/149‑1 (MQ=255)
                                                                                                                                  tGGCCGCCGTCAGGGCCACCGCAGGGCGCGTGGTGGTCGGAGCGATGAATATCAATGGGGTGCTTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGaa                  <  1:125834/149‑1 (MQ=255)
                                                                                                                                  tGGCAGCCGGCAGGGGCACCGCAGGGCGCGTGGTGGGGAAAACGTTGAATATCAACGGGGGGCGTTACGGCATGGTGCATGACGAGGCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGaa                  <  1:76360/149‑1 (MQ=255)
                                                                                                                                     cAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTGGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGc               >  1:517433/1‑149 (MQ=255)
                                                                                                                                      aGCCGTCAGCGGCAACGCAGGGCGCGGGGTGGCGAAAACGTTGAATATCAATGGGGTGCGGTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCg              <  2:188834/149‑1 (MQ=255)
                                                                                                                                           tCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCGTGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCGTCTcg         >  1:550040/1‑149 (MQ=255)
                                                                                                                                           tCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAGGTGAACAAGGTGCCGGAAGGCGTCTcg         >  2:549619/1‑149 (MQ=255)
                                                                                                                                              gCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCGTCTCgcgc      <  1:197779/149‑1 (MQ=255)
                                                                                                                                                ggCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATCGTGCATGACGAGTCGTTATGCATCGGCTGTGCGTACTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCGTCTCGCGCCt    >  2:517661/1‑149 (MQ=255)
                                                                                                                                                  cACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCGTCTCGCGCCTGa  >  1:622102/1‑149 (MQ=255)
                                                                                                                                                  |                                                                                                                                                    
GATTAAGATTTGCGTCGATTGCCACAGCGATCAGCGCACCAATCCGAACTTTAACCCGGCGTCTGTTCCGTTGCTTAAGGAGCAGCCATGACCTGGTCTCGTCGCCAGTTTCTCACCGGCGTCGGCGTGCTGGCAGCCGTCAGCGGCACCGCAGGGCGCGTGGTGGCGAAAACGTTGAATATCAATGGGGTGCGTTACGGCATGGTGCATGACGAGTCGTTATGCATCGGCTGTACCGCCTGTATGGATGCTTGTCGGGAAGTGAACAAGGTGCCGGAAGGCGTCTCGCGCCTGA  >  NC_000913_3_hsa_tpiA/4289703‑4289997

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: ‑