Predicted mutation
evidence seq id position mutation annotation gene description
RA REL606 1,949,211 G→A Q182* (CAG→TAG)  tap ← methyl‑accepting protein IV

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*REL6061,949,2110GA97.9% 179.3 / ‑3.6 48Q182* (CAG→TAG) tapmethyl‑accepting protein IV
Reads supporting (aligned to +/- strand):  ref base G (0/1);  new base A (21/26);  total (21/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.49e-01

CACTGCTGATGTAGATCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTGGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACGTCAAACG  >  REL606/1949139‑1949282
                                                                        |                                                                       
cACTGCTGATGTAGATCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCt                                                                      <  1:896172/76‑1 (MQ=255)
 aCTGCTGATGTAGATCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCta                                                                     <  2:705596/76‑2 (MQ=255)
    gctgATGTAGATCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTgc                                                                  <  2:1500217/76‑1 (MQ=255)
    gctgATGTAGATCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTgc                                                                  >  2:635162/1‑76 (MQ=255)
              aTCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTggcgg                                                        >  2:556862/1‑76 (MQ=255)
                cgccgcAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCt                                                      <  1:763725/76‑1 (MQ=255)
                  ccgcAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTc                                                    >  1:1197253/1‑76 (MQ=255)
                  ccgcAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTc                                                    <  1:160959/76‑1 (MQ=255)
                    gcAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCa                                                  >  2:1241919/1‑76 (MQ=255)
                     caacaaTAATCATGCTGATAAACACCAGTGCCTAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAg                                                 >  1:912113/1‑76 (MQ=255)
                         aataatCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGcaca                                             <  2:1061502/76‑1 (MQ=255)
                         aataatCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGcaca                                             <  1:339664/76‑1 (MQ=255)
                          ataatCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACAt                                            >  1:1510206/1‑76 (MQ=255)
                            aatCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATgg                                          >  2:1402324/1‑76 (MQ=255)
                              tCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGtt                                        >  1:969230/1‑76 (MQ=255)
                               cATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTg                                       <  2:308481/76‑1 (MQ=255)
                                   cTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGAtct                                   >  1:1007247/1‑76 (MQ=255)
                                    tGATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGAtctc                                  >  2:1610587/1‑76 (MQ=255)
                                     gATAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTcc                                 >  2:644234/1‑76 (MQ=255)
                                      aTAAACACCAGTGCCGAAATCTGATAGTTACGCTGGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCa                                <  2:1275062/76‑1 (MQ=255)
                                      aTAAACACCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCa                                >  1:1076353/1‑76 (MQ=255)
                                          acacCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTg                            >  1:1681041/1‑76 (MQ=255)
                                           cacCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCGCCTGGGTGGTCTCCAGCTGc                           >  2:75350/1‑76 (MQ=255)
                                            acCAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGcc                          <  2:562319/76‑1 (MQ=255)
                                             ccAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCCCTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCa                         <  1:1050137/76‑1 (MQ=255)
                                             ccAGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCa                         <  2:1626997/76‑1 (MQ=255)
                                             ccAGTGCCGAAATCTGATAGTTACACTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCa                         <  1:407207/76‑1 (MQ=255)
                                               aGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAgg                       <  1:1266131/76‑1 (MQ=255)
                                               aGTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAgg                       <  1:1698607/76‑1 (MQ=255)
                                                gTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGc                      <  1:123573/76‑1 (MQ=255)
                                                gTGCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGc                      <  1:1594420/76‑1 (MQ=255)
                                                  gCCGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCt                    <  2:1056748/76‑1 (MQ=255)
                                                    cGAAATCTGATAGTTACGCTAGCTTTGCGCCCTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCa                  <  2:939543/76‑1 (MQ=255)
                                                    cGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCa                  <  2:1056393/76‑1 (MQ=255)
                                                    cGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCa                  <  2:939559/76‑1 (MQ=255)
                                                    cGAAATCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCa                  <  1:7861/76‑1 (MQ=255)
                                                        aTCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCCGGCCTCAAAGt              >  1:1356779/1‑76 (MQ=255)
                                                        aTCTGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGt              >  1:1025292/1‑76 (MQ=255)
                                                           tGATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTaa           >  2:1195042/1‑76 (MQ=255)
                                                            gATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAAc          <  1:792590/76‑1 (MQ=255)
                                                            gATAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAAc          >  1:741125/1‑76 (MQ=255)
                                                             aTAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACg         >  1:1531331/1‑76 (MQ=255)
                                                             aTAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACg         <  1:1464537/76‑1 (MQ=255)
                                                             aTAGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGATAACg         >  1:310792/1‑76 (MQ=255)
                                                               aGTTACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACGTc       <  1:1265844/76‑1 (MQ=255)
                                                                 ttACGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACGTCaa     >  2:29046/1‑76 (MQ=255)
                                                                   aCGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACGTCAAAc   <  1:1095744/76‑1 (MQ=255)
                                                                    cGCTAGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACGTCAAACg  <  1:1424274/76‑1 (MQ=255)
                                                                        |                                                                       
CACTGCTGATGTAGATCGCCGCAACAATAATCATGCTGATAAACACCAGTGCCGAAATCTGATAGTTACGCTGGCTTTGCGCACTGGCGGCTTCCAGCACATGGTTGATCTCCAGCTGCCAGGCCTCAAAGTTAACGTCAAACG  >  REL606/1949139‑1949282

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 24 ≤ ATCG/ATCG < 30 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: