Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,348 T→C 19.1% T116T (ACA→ACG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,3480TC19.1% 245.5 / 50.9 120T116T (ACA→ACGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (51/46);  new base C (13/10);  total (64/56)
Fisher's exact test for biased strand distribution p-value = 8.18e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.84e-01

Only 100 of 126 total aligned reads displayed.

CCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGG  >  Exported/2919278‑2919415
                                                                      |                                                                   
ccAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgt                                                                     <  1:4649019/71‑1 (MQ=255)
   gcagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgtg                                                                    >  1:4436788/1‑69 (MQ=255)
      gcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCg                                                               <  1:540105/71‑1 (MQ=255)
         gCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc                                                             >  1:4554183/1‑70 (MQ=255)
          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                                                           <  1:4943226/71‑1 (MQ=255)
          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                                                            <  1:5410958/70‑1 (MQ=255)
          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                                                            <  1:1013121/70‑1 (MQ=255)
          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                                                            <  1:2351598/70‑1 (MQ=255)
                aTGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                     <  1:773674/71‑1 (MQ=255)
                 tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                     >  1:2501416/1‑70 (MQ=255)
                 tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                     >  1:4717303/1‑70 (MQ=255)
                   gAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc                                                  >  1:1907166/1‑71 (MQ=255)
                     aCTCATTGGTCAGGCCATTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                                                <  1:58522/71‑1 (MQ=255)
                      cTCGTTGGTCAGCCCGTTCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGccgt                                               <  1:2124962/71‑3 (MQ=255)
                      cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                                               <  1:3328650/71‑1 (MQ=255)
                      cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                                               <  1:2992503/71‑1 (MQ=255)
                       tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc                                                             >  1:212285/1‑56 (MQ=255)
                         aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc                                                       >  1:4668015/1‑60 (MQ=255)
                         aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                                            >  1:5674693/1‑71 (MQ=255)
                           tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGa                                                              >  1:1539121/1‑51 (MQ=255)
                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                                         >  1:4569142/1‑55 (MQ=255)
                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                                                   >  1:5145407/1‑61 (MQ=255)
                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                                         <  1:571441/70‑1 (MQ=255)
                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                                         <  1:2973416/70‑1 (MQ=255)
                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                                         <  1:4780463/70‑1 (MQ=255)
                              tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                       <  1:1858072/71‑1 (MQ=255)
                              tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                       <  1:3589598/71‑1 (MQ=255)
                                aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt                                      <  1:3962260/70‑1 (MQ=255)
                                aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa                                     >  1:2758018/1‑71 (MQ=255)
                                 ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATa                                              <  1:4341432/61‑1 (MQ=255)
                                 ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                       <  1:241723/68‑1 (MQ=255)
                                 ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                       <  1:1413791/68‑1 (MQ=255)
                                  gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                                                <  1:900757/58‑1 (MQ=255)
                                   ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt                                   >  1:2042270/4‑70 (MQ=255)
                                   ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt                                   >  1:306238/4‑70 (MQ=255)
                                   ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGGTTCGACCACTTCCTGGCCGTGACCGCGATACTg                                  <  1:4983946/68‑1 (MQ=255)
                                   ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg                                  <  1:1675769/71‑1 (MQ=255)
                                    cgttCCACACCGTCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTg                                  >  1:2836535/3‑70 (MQ=255)
                                    cgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGa                                 <  1:475425/69‑1 (MQ=255)
                                      ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                       <  1:3283864/63‑1 (MQ=255)
                                       tCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtg                              >  1:2279965/1‑70 (MQ=255)
                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                                                           >  1:3552184/1‑41 (MQ=255)
                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                             >  1:5014182/1‑71 (MQ=255)
                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                             >  1:3929235/1‑71 (MQ=255)
                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                             >  1:402945/1‑71 (MQ=255)
                                        ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc                             >  1:3211553/1‑69 (MQ=255)
                                         cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATa                              <  1:4792160/69‑1 (MQ=255)
                                         cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc                            >  1:5485464/1‑71 (MQ=255)
                                          aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg                           <  1:1697541/71‑1 (MQ=255)
                                           tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                          <  1:4988659/71‑1 (MQ=255)
                                            aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                                                           >  1:2500805/1‑37 (MQ=255)
                                            aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAt                                                          >  1:157408/1‑38 (MQ=255)
                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt                          >  1:733439/1‑70 (MQ=255)
                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt                          >  1:1745219/1‑70 (MQ=255)
                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc                         <  1:333869/71‑1 (MQ=255)
                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc                         <  1:4298337/71‑1 (MQ=255)
                                             ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTc                         <  1:3940701/70‑1 (MQ=255)
                                             ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                        >  1:4518782/1‑71 (MQ=255)
                                             ccGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa                        >  1:2263157/1‑71 (MQ=255)
                                               ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                      >  1:3176107/1‑71 (MQ=255)
                                                gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc                     <  1:3546077/71‑1 (MQ=255)
                                                gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                      >  1:5183585/1‑70 (MQ=255)
                                                gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                      >  1:484841/1‑70 (MQ=255)
                                                gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                      >  1:269145/1‑70 (MQ=255)
                                                 cACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa                    >  1:10161/1‑71 (MQ=255)
                                                    gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                     >  1:1112475/1‑35 (MQ=255)
                                                    gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa                                     >  1:3112073/1‑51 (MQ=255)
                                                     cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc                 >  1:78385/1‑70 (MQ=255)
                                                     cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg                <  1:4496304/71‑1 (MQ=255)
                                                        gCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa               <  1:5155006/69‑1 (MQ=255)
                                                          gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc             >  1:4695523/1‑69 (MQ=255)
                                                          gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc             >  1:4983560/1‑69 (MQ=255)
                                                           tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg                                        >  1:159110/1‑41 (MQ=255)
                                                           tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg          >  1:4119429/1‑71 (MQ=255)
                                                           tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg          >  1:2112056/1‑71 (MQ=255)
                                                           tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATAATGAATACCGTCATACATGCGACCAAg          >  1:5192670/1‑71 (MQ=255)
                                                            aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg          >  1:1579204/1‑70 (MQ=255)
                                                            aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg          >  1:776690/1‑70 (MQ=255)
                                                            aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg          <  1:133222/70‑1 (MQ=255)
                                                             ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc                                           >  1:4921986/1‑36 (MQ=255)
                                                             ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa                                >  1:1573367/1‑47 (MQ=255)
                                                             ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                        >  1:1888607/1‑55 (MQ=255)
                                                             ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                        >  1:2796713/1‑55 (MQ=255)
                                                               ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa               >  1:3163553/1‑62 (MQ=255)
                                                               ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg      >  1:832260/1‑71 (MQ=255)
                                                               ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc       <  1:949554/70‑1 (MQ=255)
                                                                cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa                    >  1:975375/1‑56 (MQ=255)
                                                                cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa                    >  1:4034677/1‑56 (MQ=255)
                                                                cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc     <  1:4914136/71‑1 (MQ=255)
                                                                cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc       <  1:383035/69‑1 (MQ=255)
                                                                cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc       <  1:1889663/69‑1 (MQ=255)
                                                                 gCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                          <  1:305113/49‑1 (MQ=255)
                                                                 gCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                          <  1:2428923/49‑1 (MQ=255)
                                                                   cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                        >  1:550620/1‑49 (MQ=255)
                                                                   cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                        >  1:1321866/1‑49 (MQ=255)
                                                                   cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg  <  1:4073582/71‑1 (MQ=255)
                                                                   cAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAcccgcg  <  1:4149179/71‑3 (MQ=255)
                                                                     gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg  >  1:3615736/1‑69 (MQ=255)
                                                                     gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg  >  1:1392164/1‑69 (MQ=255)
                                                                     gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg  >  1:1101333/1‑69 (MQ=255)
                                                                      |                                                                   
CCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGG  >  Exported/2919278‑2919415

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: