Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,516 T→A 27.6% R60R (CGA→CGT argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,5160TA27.6% 215.3 / 98.8 134R60R (CGA→CGTargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (43/54);  new base A (23/14);  total (66/68)
Fisher's exact test for biased strand distribution p-value = 8.24e-02
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01

Only 100 of 138 total aligned reads displayed.

TGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTC  >  Exported/2919448‑2919581
                                                                    |                                                                 
tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACg                                                                 >  1:302305/1‑71 (MQ=255)
  gCTGCCGCTTGTGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg                                                               <  1:2123353/71‑1 (MQ=255)
  gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATc                                                                  <  1:2610503/68‑1 (MQ=255)
  gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg                                                               <  1:1695333/71‑1 (MQ=255)
  gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg                                                                <  1:3465091/70‑1 (MQ=255)
  gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg                                                                <  1:4551957/70‑1 (MQ=255)
  gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                                                               >  1:5339171/1‑71 (MQ=255)
     gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                                             >  1:3230002/1‑70 (MQ=255)
     gCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                                                            >  1:4940451/1‑71 (MQ=255)
       cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                                             >  1:1963677/1‑68 (MQ=255)
       cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                                             >  1:751527/1‑68 (MQ=255)
       cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga                                                          <  1:1587703/71‑1 (MQ=255)
         cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt                                                        >  1:342421/1‑71 (MQ=255)
         cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt                                                        >  1:1326477/1‑71 (MQ=255)
            gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                                       <  1:4282139/69‑1 (MQ=255)
            gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                                       <  1:685737/69‑1 (MQ=255)
                cGAGATAAGTAACTCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt                                                 >  1:1494119/1‑71 (MQ=255)
                cGAGATAAGTAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt                                                 <  1:3426440/71‑1 (MQ=255)
                  aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                                                            <  1:465784/56‑1 (MQ=255)
                  aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                                                            <  1:1668361/56‑1 (MQ=255)
                  aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                                                            <  1:1392408/56‑1 (MQ=255)
                  aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCttt                                               >  1:3576672/3‑71 (MQ=255)
                   gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga                                                     >  1:887751/1‑64 (MQ=255)
                   gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt                                              <  1:4420153/71‑1 (MQ=255)
                   aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                                              >  1:2311696/2‑71 (MQ=255)
                   aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                                              >  1:234508/2‑71 (MQ=255)
                   aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCttt                                               <  1:3762245/69‑1 (MQ=255)
                    aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                                               <  1:2889611/69‑1 (MQ=255)
                     taggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTc                                            >  1:3678306/4‑71 (MQ=255)
                      aggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                                              >  1:2723965/3‑68 (MQ=255)
                       ggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCg                                           <  1:3824287/69‑1 (MQ=255)
                       aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg                                           <  1:5149346/70‑1 (MQ=255)
                       aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg                                           <  1:1388748/70‑1 (MQ=255)
                       aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                                       <  1:3956849/58‑1 (MQ=255)
                       aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                                       <  1:274060/58‑1 (MQ=255)
                        gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttttag                                           >  1:3370418/1‑67 (MQ=255)
                        gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                                               <  1:3269978/65‑1 (MQ=255)
                        gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                                               <  1:1094189/65‑1 (MQ=255)
                         tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa                                                             >  1:4805761/1‑50 (MQ=255)
                         tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa                                                             >  1:2063531/1‑50 (MQ=255)
                         tAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTc                                            >  1:3337491/1‑67 (MQ=255)
                         tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATTGGGTAcgag                                                         >  1:3486198/1‑54 (MQ=255)
                           aCGCGAGCACCCTGGTCATATGCGTCAACTTCGAAAGAGCATCTGGTAc                                                            >  1:2053851/1‑49 (MQ=39)
                           aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt                                      <  1:2959156/71‑1 (MQ=255)
                               gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcg                                                      <  1:3494316/51‑1 (MQ=255)
                                 gCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg                                           >  1:1859077/1‑60 (MQ=255)
                                   aCCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg                               <  1:4041117/70‑1 (MQ=255)
                                    cccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                                               <  1:3892820/53‑1 (MQ=255)
                                    cccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                                               <  1:1781473/53‑1 (MQ=255)
                                    cccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAgc                                  <  1:1431534/66‑1 (MQ=255)
                                     ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                                         <  1:4948340/58‑1 (MQ=255)
                                     ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt                                      <  1:5257024/61‑1 (MQ=255)
                                     ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt                                      <  1:1561716/61‑1 (MQ=255)
                                      cTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg                               <  1:159562/67‑1 (MQ=255)
                                      cTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg                               <  1:3029357/67‑1 (MQ=255)
                                      cTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGt                           <  1:560603/71‑1 (MQ=255)
                                      cTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                                                               <  1:5377177/35‑1 (MQ=38)
                                      cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGaa                                         <  1:338205/57‑1 (MQ=255)
                                       tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa                                       >  1:1754536/1‑58 (MQ=255)
                                       tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt                          >  1:2225803/1‑71 (MQ=255)
                                       tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt                          >  1:4717826/1‑71 (MQ=255)
                                       tGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt                          >  1:3423371/1‑71 (MQ=255)
                                         gTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTCTCGAAGATGAGCGCGATGtttt                        <  1:3104648/71‑1 (MQ=255)
                                         gTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttt                         <  1:4724757/70‑1 (MQ=255)
                                          tCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                                         <  1:4494721/53‑1 (MQ=255)
                                            atatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa                                       >  1:2046400/1‑53 (MQ=255)
                                             tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                                               <  1:1433691/44‑1 (MQ=255)
                                             tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtt                                                <  1:3723218/43‑1 (MQ=255)
                                              atGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCg                                           <  1:4410223/47‑1 (MQ=255)
                                              atGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAccg                   >  1:5231818/1‑70 (MQ=255)
                                               tGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa                                          >  1:132623/1‑47 (MQ=255)
                                               tGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAg                                        >  1:2220892/1‑49 (MQ=255)
                                               tGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtttt                        >  1:5447510/1‑65 (MQ=255)
                                                gCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa                                          >  1:5105810/1‑46 (MQ=255)
                                                gCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAg                  >  1:2622028/1‑70 (MQ=255)
                                                gCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAccgg                  >  1:3026458/1‑68 (MQ=255)
                                                gCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAccg                   >  1:240516/1‑68 (MQ=255)
                                                  ggCATCTTCGAAAGAGCATCGGGTACGAGTCGAGTCt                                                 <  1:4061508/37‑1 (MQ=255)
                                                   gCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAg              <  1:499790/71‑1 (MQ=255)
                                                   gCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAg              <  1:5144288/71‑1 (MQ=255)
                                                     aaCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtttt                        >  1:4658540/1‑59 (MQ=255)
                                                      aCTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt                                              <  1:2843868/36‑1 (MQ=255)
                                                       cTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTg          <  1:701491/71‑1 (MQ=255)
                                                        ttCGAAAGAGCATCGGGTACGAGTCGAGGCGTTTTCGAAGAt                                      >  1:781308/1‑42 (MQ=38)
                                                        ttCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAATATGAg                                   >  1:2618898/1‑45 (MQ=255)
                                                         tCGAAAGAGCATCGGGTAGGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAc                     >  1:4962/1‑58 (MQ=255)
                                                         tCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATg                            <  1:1055845/51‑1 (MQ=255)
                                                         tCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAc                     >  1:4097631/1‑58 (MQ=255)
                                                         tCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAc                     >  1:73808/1‑58 (MQ=255)
                                                         tCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCGGTAAGcttctg        >  1:1113318/1‑68 (MQ=255)
                                                          cGAAAGAGCATCGGGTACGAGTCGAGTGTTTTTGGAAGATTAg                                   >  1:1649587/1‑43 (MQ=255)
                                                          cGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGct       >  1:5222553/1‑71 (MQ=255)
                                                          cGAAAGAGCATCGGGTACGAGTCGAGTCATTTTCGa                                          >  1:864512/1‑36 (MQ=255)
                                                           gAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGctt      <  1:176865/71‑1 (MQ=255)
                                                            aaaGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGtt            <  1:5007830/64‑1 (MQ=255)
                                                            aaaGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGtt            <  1:1300597/64‑1 (MQ=255)
                                                            aaaGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGtt            <  1:3507232/64‑1 (MQ=255)
                                                                 gCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttc     >  1:1738901/1‑66 (MQ=255)
                                                                    tCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGt             <  1:5598032/55‑1 (MQ=255)
                                                                    tCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGt             <  1:3143502/55‑1 (MQ=255)
                                                                    |                                                                 
TGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTC  >  Exported/2919448‑2919581

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