Predicted mutation
evidence seq id position mutation freq annotation gene description
RA minE 2,919,360 C→T 7.6% E112E (GAG→GAA argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*minE2,919,3600CT 7.6% 252.4 / 7.8 79E112E (GAG→GAAargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base C (40/33);  new base T (4/2);  total (44/35)
Fisher's exact test for biased strand distribution p-value = 6.88e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.67e-01

TGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATC  >  minE/2919290‑2919429
                                                                      |                                                                     
tGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                                                       <  1:434097/71‑1 (MQ=255)
  ggATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc                                                                     <  1:99996/71‑1 (MQ=255)
  ggATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc                                                                     >  1:3712463/1‑71 (MQ=255)
   gATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc                                                                     <  1:3494664/70‑1 (MQ=255)
     tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                                   >  1:839963/1‑70 (MQ=255)
            cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg                                                           >  1:2147751/1‑71 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtct                                                                      <  1:2049546/59‑1 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtct                                                                      <  1:1593429/59‑1 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                                                          >  1:540008/1‑71 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                                                          >  1:2857317/1‑71 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                                                          >  1:3316682/1‑71 (MQ=255)
              ttGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc                                                         <  1:2147108/71‑1 (MQ=255)
                ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                                                       >  1:1400550/1‑71 (MQ=255)
                 gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtct                                                                      <  1:3627548/55‑1 (MQ=255)
                 gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtct                                                                      <  1:3125336/55‑1 (MQ=255)
                    aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                                   >  1:4022679/1‑55 (MQ=255)
                    aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                     >  1:1298777/1‑69 (MQ=255)
                    aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt                                                    <  1:945720/70‑1 (MQ=255)
                    aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa                                                   <  1:2571718/71‑1 (MQ=255)
                        cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTg                                                                  >  1:1467381/1‑52 (MQ=255)
                         aTTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa                                              <  1:1788375/71‑1 (MQ=255)
                         aTTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt                                                 <  1:2951198/68‑1 (MQ=255)
                         aTTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg                                                <  1:3825256/69‑1 (MQ=255)
                         aTTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg                                                <  1:3489124/69‑1 (MQ=255)
                          ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                                                              >  1:766114/1‑54 (MQ=255)
                          ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                     <  1:3564948/63‑1 (MQ=255)
                          ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                     <  1:3525161/63‑1 (MQ=255)
                          ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa                                              >  1:3602864/1‑70 (MQ=255)
                          ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa                                              >  1:2744934/1‑70 (MQ=255)
                            ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                     >  1:587775/1‑61 (MQ=255)
                              aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg                                         <  1:547756/71‑1 (MQ=255)
                               tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc                                                                <  1:2679199/47‑1 (MQ=255)
                               tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                                           <  1:3470373/68‑1 (MQ=255)
                               tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAGCGt                                        <  1:1016432/71‑1 (MQ=255)
                               caCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt                                        <  1:3084572/70‑1 (MQ=255)
                                aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt                                        >  1:257623/1‑70 (MQ=255)
                                 ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                      >  1:2365229/1‑71 (MQ=255)
                                 ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                      >  1:3326762/1‑71 (MQ=255)
                                 ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                      >  1:2075023/1‑71 (MQ=255)
                                  cGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa                                      >  1:2466837/1‑70 (MQ=255)
                                  cGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa                                      >  1:651248/1‑70 (MQ=255)
                                    gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc                                   <  1:3357700/71‑1 (MQ=255)
                                    gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc                                   <  1:2119899/71‑1 (MQ=255)
                                        gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                      <  1:4011572/64‑1 (MQ=255)
                                         cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa                                              >  1:1388457/1‑55 (MQ=255)
                                         cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg                              <  1:1613966/71‑1 (MQ=255)
                                            gCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAc                            >  1:3695835/1‑70 (MQ=255)
                                             cGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                           <  1:2830463/70‑1 (MQ=255)
                                             cGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                           >  1:1433522/1‑70 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt                                                    <  1:1795073/43‑1 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg                                                <  1:3521037/47‑1 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg                                                <  1:1050227/47‑1 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                                        <  1:2525052/55‑1 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                           <  1:168086/68‑1 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                        <  1:1179099/71‑1 (MQ=255)
                                                aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                        >  1:1365459/1‑70 (MQ=255)
                                                 ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                      >  1:1606350/1‑71 (MQ=255)
                                                 ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                      >  1:449873/1‑71 (MQ=255)
                                                  tCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                     >  1:2001516/1‑39 (MQ=255)
                                                   ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg                    >  1:2587752/1‑71 (MQ=255)
                                                    cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                           <  1:1292680/63‑1 (MQ=255)
                                                    cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAcc                    <  1:1021139/70‑2 (MQ=255)
                                                      ccAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCAt                                     <  1:1134790/51‑1 (MQ=255)
                                                        aGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg                              >  1:2856499/1‑56 (MQ=255)
                                                        aGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa                             >  1:3363395/1‑57 (MQ=255)
                                                         gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCa              <  1:253905/71‑1 (MQ=255)
                                                          tgtTTCGATAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAg             >  1:2243959/1‑71 (MQ=255)
                                                          tgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAg             >  1:2286494/1‑71 (MQ=255)
                                                            tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa                                    <  1:2094733/46‑1 (MQ=255)
                                                            tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa                                    >  1:1494379/1‑46 (MQ=255)
                                                             ttCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGgtgt          >  1:1877756/1‑71 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                                        >  1:811116/1‑40 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                                        >  1:578407/1‑40 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                      >  1:3610495/1‑42 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                      >  1:2151629/1‑42 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                           >  1:2718988/1‑53 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt          <  1:1504363/70‑1 (MQ=255)
                                                                gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa                                    <  1:3222743/42‑1 (MQ=255)
                                                                 aCAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa                                    <  1:796291/41‑1 (MQ=255)
                                                                  cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa                                  >  1:1724808/1‑42 (MQ=255)
                                                                  cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCttt      <  1:2495971/70‑1 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa                         >  1:495885/1‑50 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa                         >  1:3081558/1‑50 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa                         >  1:1678301/1‑50 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa    >  1:1184423/1‑71 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa    <  1:3214295/71‑1 (MQ=255)
                                                                    aTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAAt   >  1:2553387/1‑71 (MQ=255)
                                                                      ctcCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTa     >  1:3095037/1‑67 (MQ=255)
                                                                      ctcCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc  >  1:4052687/1‑70 (MQ=255)
                                                                      ctcCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc  >  1:597122/1‑70 (MQ=255)
                                                                      |                                                                     
TGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATC  >  minE/2919290‑2919429

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: