Predicted mutation
evidence seq id position mutation freq annotation gene description
RA KT2440 3,784,282 G→A 8.0% Q223Q (CAG→CAA)  CJ019_03594 → Formylglycine‑generating enzyme

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*KT24403,784,2820GA 8.0% 159.4 / 4.0 50Q223Q (CAG→CAA) CJ019_03594Formylglycine‑generating enzyme
Reads supporting (aligned to +/- strand):  ref base G (22/24);  new base A (2/2);  total (24/26)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.17e-01

CCGCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTCGCACGGGCTATC  >  KT2440/3784150‑3784415
                                                                                                                                    |                                                                                                                                     
ccGCTGGGCAGGCCGCGAACTGCCCCGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCCGCCCAAGGGCAAGCTCATGGCCAATCCCTGGCAggg                                                                                                                                     >  1:251405/1‑135 (MQ=255)
ccGCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAggg                                                                                                                                     >  3:42820/1‑135 (MQ=255)
ccGCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAg                                                                                                                                       <  3:250513/133‑1 (MQ=255)
ccGCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAg                                                                                                                                       >  4:250513/1‑133 (MQ=255)
ccGCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAAGACCTGGCAggg                                                                                                                                     >  7:376142/1‑135 (MQ=255)
  gCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTc                                                                                                                                   <  5:50686/135‑1 (MQ=255)
     gggCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGt                                                                                                                                >  2:294229/1‑135 (MQ=255)
         aGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTccc                                                                                                                            <  6:179548/135‑1 (MQ=255)
              gcgAACTGCCCAGCGTGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATc                                                                                                                       <  5:328062/135‑1 (MQ=255)
              gcgAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGAGGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCCAGGGCACGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATc                                                                                                                       >  5:360335/1‑135 (MQ=255)
                       ccAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATgcg                                                                                                               <  7:103792/134‑1 (MQ=255)
                        cAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATgcggc                                                                                                             >  5:377535/1‑135 (MQ=255)
                         aGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATgcggcg                                                                                                            <  4:166818/135‑1 (MQ=255)
                          gCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGa                                                                                                           <  5:123263/135‑1 (MQ=255)
                           cGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGaa                                                                                                          <  2:89427/135‑1 (MQ=255)
                            gAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAg                                                                                                         <  2:132667/135‑1 (MQ=255)
                            gAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAg                                                                                                         <  1:206847/135‑1 (MQ=255)
                                 gcAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATgg                                                                                                    <  4:26479/135‑1 (MQ=255)
                                     cTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGtttt                                                                                                <  4:145039/135‑1 (MQ=255)
                                            aCGCCCTGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGTGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGATTTACCGGTa                                                                                         <  4:11952/135‑1 (MQ=255)
                                                cATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATc                                                                                     >  1:114978/1‑135 (MQ=255)
                                                cATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATc                                                                                     >  6:323510/1‑135 (MQ=255)
                                                cATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTACCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATc                                                                                     >  6:62833/1‑135 (MQ=255)
                                                                                gCTGGGGTAGCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCttt                                                      <  8:266122/134‑1 (MQ=255)
                                                                                         ccaccGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGATTGCTTCCCGGCCAACGGCTTTGGCCTGTTCg                                            >  2:108292/1‑135 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATgcggcg                                                                                                            <  7:363120/62‑1 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATgcggcg                                                                                                            >  8:363120/1‑62 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCcggcg                                   >  4:197833/1‑135 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCcggcg                                   <  4:42820/135‑1 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCcggcg                                   <  7:127770/135‑1 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCcggcg                                   >  7:115766/1‑135 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAAGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCg                                                                                            >  8:299502/1‑78 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAAGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCg                                                                                            <  7:304746/78‑1 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAAGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCg                                                                                            >  8:304746/1‑78 (MQ=255)
                                                                                                  agcCCAAGGGCAAGCTCATGGCCAATACCTGGCAAGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCg                                                                                            <  7:299502/78‑1 (MQ=255)
                                                                                                       aaGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAAt                              >  7:139996/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  3:284360/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  1:267128/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  6:82794/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  1:81625/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  2:367502/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    <  3:197833/135‑1 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGATTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  8:7036/1‑135 (MQ=255)
                                                                                                                 tCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCCGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGc                    >  1:314316/1‑135 (MQ=255)
                                                                                                                       cgaaTACCTGGCAGATTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGGTGGTTGCTTCCCGGCCAACGGCTTTGGACTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTc              <  5:21218/133‑1 (MQ=255)
                                                                                                                       ccAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTc              <  8:120096/135‑1 (MQ=255)
                                                                                                                       ccAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTc              <  3:299390/135‑1 (MQ=255)
                                                                                                                       ccAATACCTGGCAGGGTCAGTTCCATTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGAt                                          >  8:84135/1‑107 (MQ=255)
                                                                                                                       ccAATACCTGGCAGGGTCAGTTCCATTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGAt                                          <  7:84135/107‑1 (MQ=255)
                                                                                                                        cAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTCg             <  2:267128/135‑1 (MQ=255)
                                                                                                                             ccTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCt                                                 <  4:247220/94‑1 (MQ=255)
                                                                                                                             ccTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCt                                                 >  3:247220/1‑94 (MQ=255)
                                                                                                                             ccTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTCGCACgg        >  7:201802/1‑135 (MQ=255)
                                                                                                                             ccTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTCGCACgg        >  3:185716/1‑135 (MQ=255)
                                                                                                                                   aGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTCGCACGGGCTATc  <  8:139996/135‑1 (MQ=255)
                                                                                                                                    gggTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCt                                                                       <  2:170967/65‑1 (MQ=255)
                                                                                                                                    gggTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCt                                                                       >  1:170967/1‑65 (MQ=255)
                                                                                                                                    |                                                                                                                                     
CCGCTGGGCAGGCCGCGAACTGCCCAGCGAGGCGCAGCTGGAATACGCCATGCGCGGCGGCCTGACCGATGCCGACTTCAGCTGGGGTACCACCGAGCAGCCCAAGGGCAAGCTCATGGCCAATACCTGGCAGGGTCAGTTCCCTTATCGCAATGCGGCGAAGGATGGTTTTACCGGTACATCGCCCGTGGGTTGCTTCCCGGCCAACGGCTTTGGCCTGTTCGATGCCGGCGGCAATGTCTGGGAGCTGACTCGCACGGGCTATC  >  KT2440/3784150‑3784415

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑