Contig ID | c | Ref Pos | Ref base | Called base | Impact | SNP% | Gene symbol | DNA change | AA Change | Depth | A Cnt | C Cnt | G Cnt | T Cnt | Del |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NC_006088 | 1 | 12587537 | C | T | N-Syn | 0.80 | FGL2 | c.368C > T | T123I | 10 | 0 | - | 0 | 8 | 0 |
NC_006088 | 1 | 24296415 | G | C | N-Syn | 1.00 | CTTNBP2 | c.2600G > C | R867P | 12 | 0 | 12 | - | 0 | 0 |
NC_006088 | 1 | 33755434 | G | A | N-Syn | 0.91 | TBC1D30 | c.304G > A | V102I | 11 | 10 | 0 | - | 0 | 0 |
NC_006088 | 1 | 34386453 | G | A | N-Syn | 1.00 | HELB | c.2342G > A | G781E | 12 | 12 | 0 | - | 0 | 0 |
NC_006088 | 1 | 34386455 | C | T | N-Syn | 1.00 | HELB | c.2344C > T | R782W | 12 | 0 | - | 0 | 12 | 0 |
NC_006088 | 1 | 45803846 | A | G | N-Syn | 1.00 | LOC417921 | c.1457A > G | Q486R | 11 | - | 0 | 11 | 0 | 0 |
NC_006088 | 1 | 45804772 | T | A | N-Syn | 0.92 | LOC417921 | c.1700 T > A | I567K | 13 | 12 | 1 | 0 | - | 0 |
NC_006088 | 1 | 54936701 | G | T | N-Syn | 0.80 | STAB2 | c.6155G > T | A2052D | 10 | 0 | 0 | - | 8 | 0 |
NC_006088 | 1 | 67320079 | C | C|A | N-Syn | 0.77 | CASC1 | c.[949C > C] + [949C > A] | V317V, V317F | 13 | 10 | - | 0 | 0 | 0 |
NC_006088 | 1 | 82856208 | G | T | N-Syn | 1.00 | CD200R1 | c.197G > T | R66L | 11 | 0 | 0 | - | 11 | 0 |
NC_006088 | 1 | 88049869 | C | T | N-Syn | 0.90 | LOC418423 | c.229C > T | V77I | 10 | 0 | - | 0 | 9 | 0 |
NC_006088 | 1 | 88157238 | C | T | N-Syn | 1.00 | CGGBP1 | c.428C > T | R143Q | 10 | 0 | - | 0 | 10 | 0 |
NC_006088 | 1 | 105941417 | T | C | N-Syn | 0.90 | SETD4 | c.1186 T > C | I396V | 10 | 0 | 9 | 0 | - | 0 |
NC_006088 | 1 | 107377588 | C | G | N-Syn | 0.92 | LCA5L | c.1331C > G | G444A | 13 | 0 | - | 12 | 0 | 0 |
NC_006088 | 1 | 108406755 | T | T|C | N-Syn | 0.77 | LOC770616 | c.[37 T > T] + [37 T > C] | M13M, M13V | 13 | 0 | 10 | 0 | - | 0 |
NC_006088 | 1 | 108764081 | C | T | N-Syn | 0.91 | UBASH3A | c.1144C > T | L382F | 11 | 0 | - | 0 | 10 | 0 |
NC_006088 | 1 | 109036880 | G | T | N-Syn | 1.00 | CBS | c.1492G > T | Q498K | 10 | 0 | 0 | - | 10 | 0 |
NC_006088 | 1 | 112264749 | A | G | N-Syn | 1.00 | OTC | c.5A > G | L2P | 12 | - | 0 | 12 | 0 | 0 |
NC_006088 | 1 | 112303781 | A | G | N-Syn | 1.00 | RPGR | c.2359A > G | I787V | 13 | - | 0 | 13 | 0 | 0 |
NC_006088 | 1 | 112303950 | G | A | N-Syn | 1.00 | RPGR | c.2528G > A | G843E | 10 | 10 | 0 | - | 0 | 0 |
NC_006088 | 1 | 121737171 | G | A | N-Syn | 1.00 | FANCB | c.1988G > A | R663K | 12 | 12 | 0 | - | 0 | 0 |
NC_006088 | 1 | 121737188 | C | A | N-Syn | 1.00 | FANCB | c.2005C > A | L669M | 12 | 12 | - | 0 | 0 | 0 |
NC_006088 | 1 | 133392696 | A | G | N-Syn | 1.00 | MFSD9 | c.790A > G | F264L | 11 | - | 0 | 11 | 0 | 0 |
NC_006088 | 1 | 137555484 | C | T|C | N-Syn | 0.79 | MYO16 | c.[1232C > T] + [1232C > C] | T411T, T411I | 14 | 0 | - | 0 | 11 | 0 |
NC_006088 | 1 | 138584430 | C | T | N-Syn | 0.90 | ANKRD10 | c.551C > T | R184H | 10 | 0 | - | 0 | 9 | 0 |
NC_006088 | 1 | 152732014 | A | G | N-Syn | 1.00 | RNF219 | c.794A > G | Q265R | 10 | - | 0 | 10 | 0 | 0 |
NC_006088 | 1 | 153202063 | C | T | N-Syn | 1.00 | SLAIN1 | c.1486C > T | G496S | 11 | 0 | - | 0 | 11 | 0 |
NC_006088 | 1 | 166907615 | G | C | N-Syn | 0.90 | NUFIP1 | c.925G > C | Q309E | 10 | 0 | 9 | - | 0 | 0 |
NC_006088 | 1 | 169375045 | A | G | N-Syn | 0.91 | SERPINE3 | c.254A > G | H85R | 11 | - | 0 | 10 | 0 | 0 |
NC_006088 | 1 | 173852809 | T | C | N-Syn | 1.00 | BRCA2 | c.355 T > C | T119A | 10 | 0 | 10 | 0 | - | 0 |
NC_006088 | 1 | 176891377 | A | G | N-Syn | 1.00 | SACS | c.6235A > G | I2079V | 11 | - | 0 | 11 | 0 | 0 |
NC_006088 | 1 | 177772554 | C | A | N-Syn | 0.86 | EFHA1 | c.659C > A | A220D | 14 | 12 | - | 0 | 0 | 0 |
NC_006088 | 1 | 177772568 | G | A | N-Syn | 0.86 | EFHA1 | c.673G > A | V225I | 14 | 12 | 0 | - | 0 | 0 |
NC_006088 | 1 | 178541726 | G | T | N-Syn | 0.92 | CENPJ | c.2041G > T | V681L | 12 | 0 | 0 | - | 11 | 0 |
NC_006088 | 1 | 187399843 | G | A | N-Syn | 0.90 | GRM5 | c.2842G > A | A948T | 10 | 9 | 0 | - | 0 | 0 |
NC_006088 | 1 | 194954389 | A | G | N-Syn | 1.00 | RNF169 | c.992A > G | V331A | 10 | - | 0 | 10 | 0 | 0 |
NC_006089 | 2 | 2046630 | C | T | N-Syn | 1.00 | CCDC13 | c.860C > T | S287N | 12 | 0 | - | 0 | 12 | 0 |
NC_006089 | 2 | 2059597 | T | C | N-Syn | 1.00 | CCDC13 | c.209 T > C | D70G | 11 | 0 | 11 | 0 | - | 0 |
NC_006089 | 2 | 2141930 | A | G | N-Syn | 0.90 | OBSCN | c.17225A > G | I5742T | 10 | - | 0 | 9 | 0 | 0 |
NC_006089 | 2 | 2155796 | T | C | N-Syn | 1.00 | OBSCN | c.14875 T > C | N4959D | 11 | 0 | 11 | 0 | - | 0 |
NC_006089 | 2 | 4669968 | C | T | N-Syn | 0.90 | DLEC1 | c.1592C > T | A531V | 10 | 0 | - | 0 | 9 | 0 |
NC_006089 | 2 | 4948035 | C | T | N-Syn | 1.00 | XIRP1 | c.4696C > T | A1566T | 11 | 0 | - | 0 | 11 | 0 |
NC_006089 | 2 | 7746258 | C | - | Frameshift | 1.00 | LOC100859401 | c.388C > - | Y129fs | 10 | 0 | - | 0 | 0 | 10 |
NC_006089 | 2 | 20725367 | C | A | N-Syn | 1.00 | DBF4 | c.1114C > A | P372T | 11 | 11 | - | 0 | 0 | 0 |
NC_006089 | 2 | 21576571 | C | T | N-Syn | 0.90 | C2H7orf63 | c.962C > T | T321M | 10 | 0 | - | 0 | 9 | 0 |
NC_006089 | 2 | 23984791 | G | A | N-Syn | 0.90 | PON2 | c.521G > A | P174L | 10 | 9 | 0 | - | 0 | 0 |
NC_006089 | 2 | 26789159 | T | C | N-Syn | 1.00 | VWDE | c.2678 T > C | N893S | 11 | 0 | 11 | 0 | - | 0 |
NC_006089 | 2 | 42356129 | C | T | N-Syn | 1.00 | LOC100857506 | c.757C > T | P253S | 12 | 0 | - | 0 | 12 | 0 |
NC_006089 | 2 | 43749632 | C | T | N-Syn | 1.00 | TGM4 | c.160C > T | A54T | 10 | 0 | - | 0 | 10 | 0 |
NC_006089 | 2 | 47501151 | C | A | N-Syn | 1.00 | SEPT7 | c.764C > A | G255V | 10 | 10 | - | 0 | 0 | 0 |
NC_006089 | 2 | 48103938 | C | T | N-Syn | 1.00 | BMPER | c.1957C > T | V653I | 11 | 0 | - | 0 | 11 | 0 |
NC_006089 | 2 | 67476715 | T | A | N-Syn | 1.00 | MYLK4 | c.2071 T > A | I691L | 12 | 12 | 0 | 0 | - | 0 |
NC_006089 | 2 | 79168177 | C | T | N-Syn | 1.00 | MTRR | c.2027C > T | R676K | 11 | 0 | - | 0 | 11 | 0 |
NC_006089 | 2 | 96844408 | T | G | N-Syn | 1.00 | CEP192 | c.3655 T > G | K1219Q | 11 | 0 | 0 | 11 | - | 0 |
NC_006089 | 2 | 107668292 | C | G | N-Syn | 1.00 | PRKDC | c.3938C > G | C1313S | 10 | 0 | - | 10 | 0 | 0 |
NC_006089 | 2 | 107767247 | A | G | N-Syn | 0.91 | LOC421108 | c.77A > G | N26S | 11 | - | 0 | 10 | 0 | 0 |
NC_006089 | 2 | 115050472 | C | A | N-Syn | 1.00 | CSPP1 | c.1303C > A | H435N | 10 | 10 | - | 0 | 0 | 0 |
NC_006089 | 2 | 120054459 | T | G | N-Syn | 1.00 | FAM164A | c.605 T > G | V202G | 10 | 0 | 0 | 10 | - | 0 |
NC_006089 | 2 | 126210593 | G | A | N-Syn | 0.80 | C2H8orf38 | c.730G > A | V244I | 10 | 8 | 0 | - | 0 | 0 |
NC_006089 | 2 | 148002272 | C | T | N-Syn | 1.00 | TOP1MT | c.1149C > T | M383I | 10 | 0 | - | 0 | 10 | 0 |
NC_006090 | 3 | 18177273 | C | T | N-Syn | 1.00 | EPRS | c.778C > T | H260Y | 10 | 0 | - | 0 | 10 | 0 |
NC_006090 | 3 | 18177438 | T | C | N-Syn | 1.00 | EPRS | c.943 T > C | C315R | 11 | 0 | 11 | 0 | - | 0 |
NC_006090 | 3 | 19964716 | A | T | N-Syn | 0.90 | USH2A | c.9152A > T | E3051V | 10 | - | 0 | 0 | 9 | 0 |
NC_006090 | 3 | 20371026 | T | C | N-Syn | 0.92 | CENPF | c.2726 T > C | E909G | 13 | 0 | 12 | 0 | - | 0 |
NC_006090 | 3 | 20377057 | T | T|A | N-Syn | 0.75 | CENPF | c.[1411 T > T] + [1411 T > A] | N471N, N471Y | 12 | 9 | 0 | 0 | - | 0 |
NC_006090 | 3 | 28850511 | A | G | N-Syn | 1.00 | LOC100858112 | c.586A > G | F196L | 10 | - | 0 | 10 | 0 | 0 |
NC_006090 | 3 | 47388200 | G | G|A | N-Syn | 0.77 | ZC3H12D | c.[998G > G] + [998G > A] | T333T, T333M | 13 | 10 | 0 | - | 0 | 0 |
NC_006090 | 3 | 48575253 | C | T | N-Syn | 0.90 | SYNE1 | c.11674C > T | A3892T | 10 | 0 | - | 0 | 9 | 0 |
NC_006090 | 3 | 48577869 | C | T | N-Syn | 0.93 | SYNE1 | c.11335C > T | D3779N | 14 | 0 | - | 0 | 13 | 0 |
NC_006090 | 3 | 54551285 | T | C | N-Syn | 1.00 | PDE7B | c.868 T > C | T290A | 11 | 0 | 11 | 0 | - | 0 |
NC_006090 | 3 | 66462814 | C | T | N-Syn | 1.00 | LOC421765 | c.1076C > T | R359Q | 12 | 0 | - | 0 | 12 | 0 |
NC_006090 | 3 | 66468226 | G | T | N-Syn | 1.00 | LOC421765 | c.334G > T | Q112K | 10 | 0 | 0 | - | 10 | 0 |
NC_006090 | 3 | 75929093 | G | A | N-Syn | 0.93 | ZNF292 | c.7835G > A | T2612I | 14 | 13 | 0 | - | 0 | 0 |
NC_006090 | 3 | 80234352 | G | A | N-Syn | 1.00 | COL12A1 | c.2659G > A | A887T | 10 | 10 | 0 | - | 0 | 0 |
NC_006091 | 4 | 4124961 | C | T | Nonsense | 1.00 | DDX26B | c.151C > T | Q51. | 11 | 0 | - | 0 | 11 | 0 |
NC_006091 | 4 | 9883806 | G | A | N-Syn | 0.91 | SLITRK4 | c.1715G > A | R572K | 11 | 10 | 0 | - | 0 | 0 |
NC_006091 | 4 | 49489771 | G | T | N-Syn | 0.91 | RUFY3 | c.1588G > T | A530S | 11 | 0 | 0 | - | 10 | 0 |
NC_006092 | 5 | 3898544 | C | T | N-Syn | 0.80 | KIF18A | c.1567C > T | D523N | 10 | 0 | - | 0 | 8 | 0 |
NC_006092 | 5 | 8035275 | A | G | N-Syn | 1.00 | LOC100859209 | c.79A > G | C27R | 11 | - | 0 | 11 | 0 | 0 |
NC_006092 | 5 | 20708767 | A | G | N-Syn | 1.00 | API5 | c.506A > G | K169R | 10 | - | 0 | 10 | 0 | 0 |
NC_006092 | 5 | 21158570 | - | A | Frameshift | 0.90 | LOC770458 | c.105- > A | A35fs | 10 | 9 | 0 | 0 | 0 | 1 |
NC_006092 | 5 | 22076516 | T | C | N-Syn | 1.00 | C1QTNF4 | c.230 T > C | I77T | 11 | 0 | 11 | 0 | - | 0 |
NC_006092 | 5 | 38183079 | C | T | N-Syn | 0.83 | LOC100859479 | c.82C > T | P28S | 12 | 0 | - | 0 | 10 | 0 |
NC_006092 | 5 | 44443744 | G | G|C | N-Syn | 0.75 | KIAA1409 | c.[2076G > G] + [2076G > C] | Q692H, Q692Q | 12 | 0 | 9 | - | 0 | 0 |
NC_006092 | 5 | 44443754 | G | A | N-Syn | 0.80 | KIAA1409 | c.2086G > A | E696K | 10 | 8 | 0 | - | 0 | 0 |
NC_006092 | 5 | 44443755 | A | T | N-Syn | 0.80 | KIAA1409 | c.2087A > T | E696V | 10 | - | 0 | 0 | 8 | 0 |
NC_006092 | 5 | 45296293 | G | G|A | N-Syn | 0.75 | C5H14orf49 | c.[596G > G] + [596G > A] | A199A, A199V | 12 | 9 | 0 | - | 0 | 0 |
NC_006092 | 5 | 50316949 | A | G | N-Syn | 1.00 | APOPT1 | c.440A > G | H147R | 12 | - | 0 | 12 | 0 | 0 |
NC_006093 | 6 | 4563260 | G | C | N-Syn | 0.90 | BMS1 | c.1666G > C | L556V | 10 | 0 | 9 | - | 0 | 0 |
NC_006093 | 6 | 15062678 | A | G | N-Syn | 0.80 | PLAU | c.925A > G | W309R | 10 | - | 0 | 8 | 0 | 0 |
NC_006093 | 6 | 25651167 | G | A | N-Syn | 1.00 | RBM20 | c.1687G > A | D563N | 10 | 10 | 0 | - | 0 | 0 |
NC_006093 | 6 | 30617911 | C | T | N-Syn | 0.80 | ATE1 | c.518C > T | G173D | 10 | 0 | - | 0 | 8 | 0 |
NC_006093 | 6 | 32898174 | T | C | N-Syn | 1.00 | MKI67 | c.2414 T > C | M805T | 10 | 0 | 10 | 0 | - | 0 |
NC_006094 | 7 | 9605730 | T | C | N-Syn | 1.00 | ANKRD44 | c.584 T > C | K195R | 15 | 0 | 15 | 0 | - | 0 |
NC_006094 | 7 | 18282262 | G | G|A | N-Syn | 0.75 | LRP2 | c.[3775G > G] + [3775G > A] | A1259T, A1259A | 12 | 9 | 0 | - | 0 | 0 |
NC_006094 | 7 | 21828274 | A | G|A | N-Syn | 0.75 | CCDC108 | c.[2902A > G] + [2902A > A] | N968N, N968D | 12 | - | 0 | 9 | 0 | 0 |
NC_006094 | 7 | 25803714 | T | G | N-Syn | 0.80 | IQCB1 | c.952 T > G | T318P | 10 | 0 | 0 | 8 | - | 0 |
NC_006095 | 8 | 1373656 | G | A | N-Syn | 1.00 | CAMSAP1L1 | c.1955G > A | A652V | 12 | 12 | 0 | - | 0 | 0 |
NC_006095 | 8 | 2290270 | A | G | N-Syn | 1.00 | LOC100859900 | c.65A > G | L22P | 13 | - | 0 | 13 | 0 | 0 |
NC_006095 | 8 | 2506276 | C | T | N-Syn | 1.00 | CRB1 | c.1814C > T | S605N | 12 | 0 | - | 0 | 12 | 0 |
NC_006095 | 8 | 2612732 | T | C | N-Syn | 1.00 | ASPM | c.6907 T > C | C2303R | 11 | 0 | 11 | 0 | - | 0 |
NC_006095 | 8 | 7596287 | G | T | N-Syn | 0.91 | NCF2 | c.1234G > T | P412T | 11 | 0 | 0 | - | 10 | 0 |
NC_006095 | 8 | 8053190 | G | C | N-Syn | 0.81 | LOC768407 | c.875G > C | G292A | 16 | 0 | 13 | - | 0 | 0 |
NC_006095 | 8 | 8188888 | T | A | N-Syn | 0.82 | LOC768392 | c.512 T > A | E171V | 11 | 9 | 0 | 0 | - | 0 |
NC_006095 | 8 | 12666139 | G | G|A | N-Syn | 0.75 | ABCA4 | c.[4678G > G] + [4678G > A] | V1560I, V1560V | 12 | 9 | 0 | - | 0 | 0 |
NC_006095 | 8 | 23585119 | C | G | N-Syn | 0.93 | LRP8 | c.583C > G | G195R | 14 | 0 | - | 13 | 0 | 0 |
NC_006096 | 9 | 800651 | G | G|A | N-Syn | 0.75 | LOC424748 | c.[5G > G] + [5G > A] | R2K, R2R | 12 | 9 | 0 | - | 0 | 0 |
NC_006096 | 9 | 2123518 | A | G | N-Syn | 1.00 | YEATS2 | c.602A > G | N201S | 11 | - | 0 | 11 | 0 | 0 |
NC_006096 | 9 | 4127341 | G | A | N-Syn | 1.00 | GAL3ST4 | c.505G > A | A169T | 10 | 10 | 0 | - | 0 | 0 |
NC_006096 | 9 | 4217231 | A | G | N-Syn | 0.92 | RNF168 | c.806A > G | D269G | 13 | - | 0 | 12 | 0 | 0 |
NC_006096 | 9 | 15175477 | T | G | N-Syn | 1.00 | CAPN10 | c.1660 T > G | T554P | 11 | 0 | 0 | 11 | - | 0 |
NC_006096 | 9 | 21419266 | C | A | N-Syn | 0.82 | SPTSSB | c.44C > A | P15Q | 11 | 9 | - | 0 | 0 | 0 |
NC_006097 | 10 | 3986458 | T | C | N-Syn | 0.82 | VPS13C | c.3727 T > C | Y1243H | 11 | 0 | 9 | 0 | - | 0 |
NC_006099 | 12 | 9103119 | G | A | N-Syn | 1.00 | COPG | c.1771G > A | A591T | 12 | 12 | 0 | - | 0 | 0 |
NC_006099 | 12 | 15133837 | T | C | N-Syn | 1.00 | LOC100858715 | c.89 T > C | V30A | 11 | 0 | 11 | 0 | - | 0 |
NC_006099 | 12 | 19738746 | C | T | N-Syn | 1.00 | NR2C2 | c.1061C > T | S354N | 10 | 0 | - | 0 | 10 | 0 |
NC_006100 | 13 | 2703509 | A | G|A | N-Syn | 0.77 | LOC769940 | c.[2875A > G] + [2875A > A] | S959P, S959S | 13 | - | 0 | 10 | 0 | 0 |
NC_006100 | 13 | 2703511 | A | G|A | N-Syn | 0.77 | LOC769940 | c.[2873A > G] + [2873A > A] | F958S, F958F | 13 | - | 0 | 10 | 0 | 0 |
NC_006100 | 13 | 11337736 | C | G | N-Syn | 0.90 | GEMIN5 | c.849C > G | H283Q | 10 | 0 | - | 9 | 0 | 0 |
NC_006100 | 13 | 11349274 | A | G | N-Syn | 0.83 | GEMIN5 | c.3739A > G | S1247G | 12 | - | 0 | 10 | 0 | 0 |
NC_006101 | 14 | 5552664 | G | A | N-Syn | 0.82 | TEKT4 | c.1192G > A | V398I | 11 | 9 | 0 | - | 0 | 0 |
NC_006101 | 14 | 5975913 | T | C | N-Syn | 0.93 | CHTF18 | c.1934 T > C | E645G | 14 | 0 | 13 | 0 | - | 0 |
NC_006101 | 14 | 6002290 | G | G|C | N-Syn | 0.75 | MSLN | c.[774G > G] + [774G > C] | S258S, S258R | 12 | 0 | 9 | - | 0 | 0 |
NC_006101 | 14 | 7697077 | C | T | N-Syn | 0.80 | ABCC6 | c.1213C > T | V405M | 10 | 0 | - | 0 | 8 | 0 |
NC_006101 | 14 | 13378210 | T | C | N-Syn | 0.93 | C14H16orf89 | c.68 T > C | D23G | 14 | 1 | 13 | 0 | - | 0 |
NC_006102 | 15 | 3706306 | T | C | N-Syn | 1.00 | GLT1D1 | c.968 T > C | Q323R | 10 | 0 | 10 | 0 | - | 0 |
NC_006102 | 15 | 4915706 | T | C | N-Syn | 0.90 | ATP6V0A2 | c.1246 T > C | I416V | 10 | 0 | 9 | 0 | - | 0 |
NC_006102 | 15 | 4926428 | G | A | N-Syn | 1.00 | LOC100857705 | c.1552G > A | R518C | 10 | 10 | 0 | - | 0 | 0 |
NC_006102 | 15 | 5060494 | G | A | N-Syn | 1.00 | MPHOSPH9 | c.755G > A | R252K | 14 | 14 | 0 | - | 0 | 0 |
NC_006102 | 15 | 5695994 | G | A | N-Syn | 0.90 | WDR66 | c.1690G > A | D564N | 10 | 9 | 0 | - | 0 | 0 |
NC_006102 | 15 | 6317399 | C | T | N-Syn | 1.00 | C15H12orf51 | c.7777C > T | D2593N | 10 | 0 | - | 0 | 10 | 0 |
NC_006102 | 15 | 6633596 | T | C | N-Syn | 1.00 | USP30 | c.488 T > C | I163T | 13 | 0 | 13 | 0 | - | 0 |
NC_006102 | 15 | 8096384 | T | C | N-Syn | 1.00 | DDX51 | c.1493 T > C | M498T | 11 | 0 | 11 | 0 | - | 0 |
NC_006102 | 15 | 8693805 | G | C | N-Syn | 1.00 | RTDR1 | c.118G > C | V40L | 10 | 0 | 10 | - | 0 | 0 |
NC_006104 | 17 | 6506143 | T | C | N-Syn | 0.87 | SETX | c.4564 T > C | I1522V | 15 | 0 | 13 | 0 | - | 0 |
NC_006104 | 17 | 6581087 | G | A | N-Syn | 1.00 | C17H9orf171 | c.682G > A | D228N | 12 | 12 | 0 | - | 0 | 0 |
NC_006104 | 17 | 6922987 | A | G | N-Syn | 1.00 | ADAMTS13 | c.3103A > G | I1035V | 12 | - | 0 | 12 | 0 | 0 |
NC_006104 | 17 | 7858127 | A | T | N-Syn | 1.00 | SEC16A | c.4079A > T | H1360L | 15 | - | 0 | 0 | 15 | 0 |
NC_006104 | 17 | 7905701 | G | C | N-Syn | 1.00 | SNAPC4 | c.2609G > C | G870A | 11 | 0 | 11 | - | 0 | 0 |
NC_006105 | 18 | 1082307 | C | T | N-Syn | 0.90 | DNAH9 | c.6700C > T | P2234S | 10 | 0 | - | 0 | 9 | 0 |
NC_006105 | 18 | 1111244 | G | A | N-Syn | 0.80 | DNAH9 | c.8491G > A | V2831M | 10 | 8 | 0 | - | 0 | 0 |
NC_006105 | 18 | 6605385 | C | G | N-Syn | 1.00 | ATAD5 | c.3652C > G | P1218A | 11 | 0 | - | 11 | 0 | 0 |
NC_006105 | 18 | 6605422 | G | A | N-Syn | 1.00 | ATAD5 | c.3689G > A | R1230K | 10 | 10 | 0 | - | 0 | 0 |
NC_006105 | 18 | 6967029 | C | T | N-Syn | 1.00 | C18H17orf58 | c.1018C > T | L340F | 12 | 0 | - | 0 | 12 | 0 |
NC_006106 | 19 | 5858876 | T | C | N-Syn | 1.00 | ERAL1 | c.1186 T > C | M396V | 14 | 0 | 14 | 0 | - | 0 |
NC_006106 | 19 | 6213750 | G | C | N-Syn | 1.00 | SLC6A4 | c.242G > C | A81G | 10 | 0 | 10 | - | 0 | 0 |
NC_006106 | 19 | 7495965 | C | G | N-Syn | 0.82 | BRIP1 | c.1718C > G | P573R | 11 | 0 | - | 9 | 0 | 0 |
NC_006107 | 20 | 12338968 | T | G | N-Syn | 0.83 | CASS4 | c.1169 T > G | N390T | 12 | 0 | 0 | 10 | - | 0 |
NC_006107 | 20 | 12696859 | T | A | N-Syn | 1.00 | CYP24A1 | c.878 T > A | L293Q | 12 | 12 | 0 | 0 | - | 0 |
NC_006108 | 21 | 2336588 | G | A | Nonsense | 0.80 | TAS1R3 | c.1108G > A | R370. | 10 | 8 | 0 | - | 0 | 0 |
NC_006108 | 21 | 3215527 | C | T | N-Syn | 0.92 | ENO1 | c.1265C > T | R422H | 12 | 0 | - | 0 | 11 | 0 |
NC_006108 | 21 | 4657639 | G | A | N-Syn | 1.00 | KIAA0090 | c.2716G > A | R906C | 11 | 11 | 0 | - | 0 | 0 |
NC_006110 | 23 | 5163924 | T | C | N-Syn | 1.00 | ZBTB8A | c.232 T > C | F78L | 10 | 0 | 10 | 0 | - | 0 |
NC_006112 | 25 | 1498400 | G | A | N-Syn | 1.00 | HORMAD1 | c.844G > A | A282T | 11 | 11 | 0 | - | 0 | 0 |
NC_006113 | 26 | 4679877 | G | A | N-Syn | 1.00 | LOC768535 | c.1097G > A | P366L | 10 | 10 | 0 | - | 0 | 0 |
NC_006127 | Z | 71529316 | G | A | N-Syn | 1.00 | DMXL1 | c.4394G > A | A1465V | 11 | 11 | 0 | - | 0 | 0 |