Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,918,769 G→C 15.6% A309A (GCC→GCG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,918,7690GC15.6% 228.9 / 31.7 96A309A (GCC→GCGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (44/37);  new base C (11/4);  total (55/41)
Fisher's exact test for biased strand distribution p-value = 2.56e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.85e-01

AGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAT  >  Exported/2918701‑2918831
                                                                    |                                                              
aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg                                                               >  1:3020288/1‑70 (MQ=255)
aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg                                                               >  1:4924839/1‑70 (MQ=255)
aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg                                                               <  1:4542014/70‑1 (MQ=255)
 gCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa                                                             <  1:4845447/71‑1 (MQ=255)
    gcgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa                                                             <  1:4935280/67‑1 (MQ=255)
     cgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGAtt                                                         >  1:5627546/1‑71 (MQ=255)
      gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc                                                        >  1:5537665/1‑71 (MQ=255)
      gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc                                                        >  1:526949/1‑71 (MQ=255)
       cgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCg                                                       <  1:3463676/71‑1 (MQ=255)
       cgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCg                                                       <  1:1460990/71‑1 (MQ=255)
          tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaac                                                    <  1:2630418/70‑2 (MQ=255)
          tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTCGTCGAACACGATGCTCGCCGCCGACTCaaac                                                    <  1:4758191/70‑2 (MQ=255)
           cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc                                                        >  1:376165/1‑66 (MQ=255)
           cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa                                                     >  1:1033733/1‑69 (MQ=255)
           cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca                                                   >  1:1793959/1‑69 (MQ=255)
           cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca                                                   >  1:3187916/1‑69 (MQ=255)
           cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca                                                   >  1:3081639/1‑69 (MQ=255)
            aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc                                                  <  1:195660/71‑1 (MQ=255)
            aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaa                                                     >  1:1322001/1‑68 (MQ=255)
            aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac                                                  >  1:4587746/1‑71 (MQ=255)
            aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac                                                  >  1:1985400/1‑71 (MQ=255)
               aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt                                                <  1:4749531/70‑1 (MQ=255)
               aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt                                                <  1:2302600/70‑1 (MQ=255)
               aCCGCTTTGATAGTATGCATACGGTTTTCCGCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                              >  1:5102262/1‑71 (MQ=255)
                ccGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                              <  1:447210/71‑1 (MQ=255)
                ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg                                              >  1:2938459/1‑70 (MQ=255)
                ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg                                              >  1:2910214/1‑70 (MQ=255)
                 cGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat                                             >  1:3119782/1‑71 (MQ=255)
                    tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg                                          >  1:2536734/1‑71 (MQ=255)
                      tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt                                         <  1:961524/70‑1 (MQ=255)
                      tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt                                         <  1:1198552/70‑1 (MQ=255)
                       gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                        <  1:3663839/70‑1 (MQ=255)
                       gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                        <  1:2907587/70‑1 (MQ=255)
                        aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                      <  1:1445269/71‑1 (MQ=255)
                        aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                      >  1:1402036/1‑71 (MQ=255)
                         tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt                                     <  1:5361374/71‑1 (MQ=255)
                           gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                   <  1:1345165/71‑1 (MQ=255)
                           gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                   <  1:2635760/71‑1 (MQ=255)
                           gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                   <  1:2452414/71‑1 (MQ=255)
                           gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                   <  1:3007956/71‑1 (MQ=255)
                             aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa                                                     >  1:2568765/1‑51 (MQ=255)
                             aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa                                                     >  1:5548068/1‑51 (MQ=255)
                              tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcatca                                           <  1:4097790/60‑1 (MQ=255)
                              tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                 >  1:4739036/1‑70 (MQ=255)
                                cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc                              >  1:3895276/1‑69 (MQ=255)
                                 aTACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATAcc                             >  1:4716868/1‑71 (MQ=255)
                                  tACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                   <  1:3943634/64‑1 (MQ=255)
                                   ccGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                           >  1:1221099/2‑71 (MQ=255)
                                    cGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                           >  1:4455993/1‑70 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGa                                                           >  1:3950618/1‑38 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGGCCTCATCAg                                          >  1:2695654/1‑55 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                              >  1:5236522/1‑51 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                              >  1:2192111/1‑51 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                              >  1:5146430/1‑51 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg                                          >  1:2339251/1‑55 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                           <  1:1832383/70‑1 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                           >  1:2323733/1‑70 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                           >  1:4756248/1‑70 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                           >  1:1584815/1‑70 (MQ=255)
                                    cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                           >  1:2264626/1‑70 (MQ=255)
                                       ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                       <  1:818793/71‑1 (MQ=255)
                                       ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                       <  1:2992857/71‑1 (MQ=255)
                                       ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                       <  1:1080511/71‑1 (MQ=255)
                                         ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                       >  1:627066/1‑69 (MQ=255)
                                         ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                      <  1:1652947/70‑1 (MQ=255)
                                         ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                      <  1:132974/70‑1 (MQ=255)
                                         ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                      <  1:5079649/70‑1 (MQ=255)
                                           ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                     <  1:2975957/69‑1 (MQ=255)
                                           ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                    <  1:3210685/70‑1 (MQ=255)
                                              ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc                                                  >  1:3574575/1‑37 (MQ=255)
                                              ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                <  1:4915402/71‑1 (MQ=255)
                                               cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                >  1:1270875/1‑70 (MQ=255)
                                               cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                >  1:4355450/1‑70 (MQ=255)
                                                 gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                      <  1:1376599/46‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat                                             <  1:2247571/38‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat                                             <  1:2498425/38‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                   <  1:879623/48‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                      <  1:3617310/61‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                     <  1:5396164/62‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt             <  1:4201521/70‑1 (MQ=255)
                                                  aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt             >  1:2346855/1‑70 (MQ=255)
                                                   tCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt             <  1:487271/69‑1 (MQ=255)
                                                    cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                      >  1:885537/1‑43 (MQ=255)
                                                    cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                 >  1:4886503/1‑48 (MQ=255)
                                                    cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                 >  1:3819288/1‑48 (MQ=255)
                                                    cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                 >  1:243394/1‑48 (MQ=255)
                                                    cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                    >  1:5607975/1‑61 (MQ=255)
                                                    cAAAAACAATGCTGGCGGCAGATTCGAAGACCTAATCAGTGACTTCCa                                 >  1:5198671/1‑48 (MQ=255)
                                                     aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg                   >  1:2195743/1‑61 (MQ=255)
                                                     aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt         >  1:1040042/1‑71 (MQ=255)
                                                     aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt         >  1:1574564/1‑71 (MQ=255)
                                                        aaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCg      >  1:2308722/1‑71 (MQ=255)
                                                         aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                       >  1:2314143/1‑53 (MQ=255)
                                                         aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc     <  1:2687385/71‑1 (MQ=255)
                                                         aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc     >  1:234154/1‑71 (MQ=255)
                                                          cAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTcc       >  1:2137888/1‑68 (MQ=255)
                                                           aaTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCa   >  1:4400442/1‑71 (MQ=255)
                                                            aTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAt  >  1:1178884/1‑71 (MQ=255)
                                                              gCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATa                               >  1:254083/1‑40 (MQ=255)
                                                                    |                                                              
AGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAT  >  Exported/2918701‑2918831

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: