Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 189,238 T→C 6.7% H245H (CAT→CAC ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported189,2380TC 6.7% 213.5 / 4.4 74H245H (CAT→CACldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base T (36/33);  new base C (2/3);  total (38/36)
Fisher's exact test for biased strand distribution p-value = 6.70e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.69e-01

CGAACAAAATTGTGGGTATGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGTAATGC  >  Exported/189171‑189306
                                                                   |                                                                    
cGAACAAAATTGTTGGTATGTACTCTGCTCCAGCAGGCAGCACCATTCTGATTGACCGTAACTGCCACaaa                                                                   >  1:5292984/1‑71 (MQ=255)
cGAACAAAATTGTTGGTATGTACTCTGCTCCAGCAGGCAGCACCATTCTGATTGACCGTAACTGCCACaaa                                                                   <  1:5229770/71‑1 (MQ=255)
cGAACAAAATTGTTGGTATGTACTCTGCTCCAGCAGGCAGCACCATTCTGATTGACCGTAACTGCCACaaa                                                                   <  1:3650730/71‑1 (MQ=255)
cGAACAAAATTGTTGGTATGTACTCTGCTCCAGCAGGCAGCACCATTCTGATTGACCGTAACTGCCACaa                                                                    <  1:4096418/70‑1 (MQ=255)
 gAACAAAATTGTTGGTATGTACTCTGCTCCAGCAGGCAGCACCATTCTGATTGACCGTAACTGCCACAAAt                                                                  >  1:1707822/1‑71 (MQ=255)
  aaCAAAATTGTGGGTATGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATc                                                                 >  1:2947894/1‑71 (MQ=255)
  aaCAAAATTGTGGGTATGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATc                                                                 >  1:2954425/1‑71 (MQ=255)
     aaaaTTGTGGGTATGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCt                                                              >  1:1921515/1‑71 (MQ=255)
              ggTATGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATc                                                      <  1:3370142/70‑1 (MQ=255)
                  tGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGtt                                                  <  1:5654539/70‑1 (MQ=255)
                  tGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGtt                                                  >  1:4453286/1‑70 (MQ=255)
                    tACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgat                                               >  1:1613896/1‑71 (MQ=255)
                    tACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgat                                               <  1:1870605/71‑1 (MQ=255)
                     aCGCCGCGCCATCCGGCAGTACGCTGTTGATCGCCCGCAATTGTCATAAATCGCTGGCGCATCTGTtgat                                               >  1:2760333/1‑70 (MQ=255)
                     aCGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgat                                               >  1:3583222/1‑70 (MQ=255)
                     aCGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgat                                               >  1:1351555/1‑70 (MQ=255)
                        ccgcGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgatgatg                                           <  1:3983363/71‑1 (MQ=255)
                        ccgcGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgatgatg                                           <  1:4945377/71‑1 (MQ=255)
                          gcgcCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGaa                                         <  1:2884894/71‑1 (MQ=255)
                            gcCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACg                                       <  1:2288394/71‑1 (MQ=255)
                             ccATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGtt                                                  <  1:3991621/59‑1 (MQ=255)
                              cATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCt                                                              <  1:5024508/46‑1 (MQ=255)
                               aTCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCt                                                              <  1:527585/45‑1 (MQ=255)
                               aTCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATg                                    <  1:1049915/71‑1 (MQ=255)
                                 ccGGCAGTACGCTGTTGATCGACAGCAATTGTCATAAATCGCTGGCGCATCTGTtgatga                                             >  1:2177709/1‑60 (MQ=255)
                                  cGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTg                                                    <  1:5021617/52‑1 (MQ=255)
                                  cGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTg                                                    <  1:3599219/52‑1 (MQ=255)
                                  cGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAg                                 >  1:5588338/1‑71 (MQ=255)
                                  cGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAg                                 >  1:5399001/1‑71 (MQ=255)
                                        tACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATg                                    <  1:1808091/62‑1 (MQ=255)
                                          cGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTtga                                                >  1:5007452/1‑48 (MQ=255)
                                          cGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGaa                                         >  1:3491300/1‑55 (MQ=255)
                                          cGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGaa                                         >  1:3139457/1‑55 (MQ=255)
                                           gCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGt                                                   <  1:3453335/44‑1 (MQ=255)
                                           gCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGt                                                   <  1:1038144/44‑1 (MQ=255)
                                           gCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGt                                                   <  1:5599218/44‑1 (MQ=255)
                                            cTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCAt                                                       >  1:1345438/1‑39 (MQ=255)
                                            cTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCAt                                                       >  1:1271903/1‑39 (MQ=255)
                                            cTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCAt                                                       >  1:2609161/1‑39 (MQ=255)
                                            cTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCAt                                                       >  1:2523216/1‑39 (MQ=255)
                                             tGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTg                                                    >  1:3036730/1‑41 (MQ=255)
                                                tGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTa                                  >  1:2201923/1‑56 (MQ=255)
                                                tGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTa                                  >  1:2195403/1‑56 (MQ=255)
                                                 gATCGACCGCAATTGTCATAAATCGCTGGCGCATCTg                                                    >  1:4825191/1‑37 (MQ=255)
                                                 gATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGc                     >  1:3516663/1‑68 (MQ=255)
                                                 gATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCt                    >  1:3522943/1‑69 (MQ=255)
                                                  aTCGACCGCAATTGTCATAAATCGCTGGCGCATCTGtt                                                  <  1:183870/38‑1 (MQ=255)
                                                    cGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTa                                  >  1:5431075/1‑52 (MQ=255)
                                                    cGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTa                                  >  1:3095707/1‑52 (MQ=255)
                                                     gACCGCAATTGTCATAAATCGCTGGCGCATCTGTtgat                                               <  1:5426214/38‑1 (MQ=255)
                                                      aCCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAAcc              >  1:257068/1‑70 (MQ=255)
                                                       ccGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGa            <  1:5133824/71‑1 (MQ=255)
                                                        cGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaaa                >  1:36628/1‑66 (MQ=255)
                                                        cGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaaa                >  1:4692703/1‑66 (MQ=255)
                                                        cGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaaa                >  1:1307454/1‑66 (MQ=255)
                                                        cGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaaa                >  1:1326380/1‑66 (MQ=255)
                                                         gCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATg                                    <  1:1652731/45‑1 (MQ=255)
                                                          cAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGAc           >  1:3116045/1‑69 (MQ=255)
                                                            aTTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAg                           >  1:17260/1‑51 (MQ=255)
                                                            aTTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGt       <  1:5009704/71‑1 (MQ=255)
                                                            aTTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGt       <  1:3645658/71‑1 (MQ=255)
                                                             ttGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGc                              <  1:3007459/47‑1 (MQ=255)
                                                             ttGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGc                              <  1:5454214/47‑1 (MQ=255)
                                                             ttGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAg                           <  1:3962762/50‑1 (MQ=255)
                                                             ttGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaa                 <  1:3446543/60‑1 (MQ=255)
                                                             ttGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaa                 <  1:4102785/60‑1 (MQ=255)
                                                             ttGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGaa                 <  1:4017861/60‑1 (MQ=255)
                                                              tGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTgg                      >  1:5420977/1‑54 (MQ=255)
                                                               gTCATAAATCGCTGGCGCATCTGTTGATGATGAACGa                                      >  1:378126/1‑37 (MQ=255)
                                                               gTCATAAATCGCTGGCGCATCTGTTGATGATGAACGa                                      >  1:5080565/1‑37 (MQ=255)
                                                                tCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGt       <  1:2684987/67‑1 (MQ=255)
                                                                tCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGTAAt    <  1:2405376/70‑1 (MQ=255)
                                                                  aTAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGTAATGc  <  1:3079343/70‑1 (MQ=255)
                                                                  aTAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGTAATGc  <  1:5504069/70‑1 (MQ=255)
                                                                   tAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGa                  <  1:2752968/53‑1 (MQ=255)
                                                                   |                                                                    
CGAACAAAATTGTGGGTATGTACGCCGCGCCATCCGGCAGTACGCTGTTGATCGACCGCAATTGTCATAAATCGCTGGCGCATCTGTTGATGATGAACGATGTAGTGCCAGTCTGGCTGAAACCGACGCGTAATGC  >  Exported/189171‑189306

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: