Table 1.
TUMOR_SAMPLE | NORMAL_SAMPLE | CHROM | POS | REF | ALT | GENE | EFFECT | Alteration (cDNA) | Alteration (AA) | Depth in tumor | Variant allele fraction |
---|---|---|---|---|---|---|---|---|---|---|---|
368N4 | 368muscle | 1 | 65050991 | C | T | Cryge | missense_variant | c.31G>A | p.Gly11Ser | 58 | 8.80% |
357N1 | 357muscle | 1 | 85577158 | G | C | G530012D18Rik | missense_variant | c.283G>C | p.Glu95Gln | 15 | 26.70% |
368N2 | 368muscle | 1 | 86426453 | C | A | 1700019O17Rik | missense_variant | c.83C>A | p.Ala28Asp | 42 | 7.10% |
373N4 | 373muscle | 1 | 92942579 | C | A | Capn10 | missense_variant | c.786C>A | p.His262Gln | 48 | 6.30% |
373N4 | 373muscle | 1 | 1.06E+08 | C | T | Phlpp1 | stop_gained | c.4243C>T | p.Arg1415* | 110 | 21.80% |
358N3 | 358muscle | 1 | 1.28E+08 | C | A | Lct | missense_variant | c.3054G>T | p.Met1018Ile | 43 | 7.00% |
373N4 | 373muscle | 1 | 1.31E+08 | C | A | Pfkfb2 | missense_variant | c.619G>T | p.Asp207Tyr | 89 | 4.50% |
358N3 | 358muscle | 1 | 1.66E+08 | C | A | Gm4846 | missense_variant | c.1305G>T | p.Met435Ile | 72 | 5.60% |
358N3 | 358muscle | 1 | 1.67E+08 | G | T | Aldh9a1 | missense_variant | c.712G>T | p.Ala238Ser | 44 | 6.80% |
368N2 | 368muscle | 1 | 1.81E+08 | C | A | Acbd3 | missense_variant | c.337C>A | p.His113Asn | 25 | 12.00% |
358N3 | 358muscle | 2 | 13486755 | C | A | Cubn | missense_variant&splice_region_variant | c.480G>T | p.Lys160Asn | 47 | 6.40% |
357N1 | 357muscle | 2 | 25911320 | C | A | Kcnt1 | synonymous_variant | c.3409C>A | p.Arg1137Arg | 35 | 8.60% |
368N2 | 368muscle | 2 | 58982966 | G | T | Ccdc148 | missense_variant | c.614C>A | p.Ala205Asp | 28 | 10.70% |
358N3 | 358muscle | 2 | 66565161 | C | A | Scn9a | stop_gained | c.538G>T | p.Glu180* | 24 | 12.50% |
368N4 | 368muscle | 2 | 1.04E+08 | A | C | D430041D05Rik | missense_variant | c.1942T>G | p.Leu648Val | 267 | 13.10% |
373N4 | 373muscle | 2 | 1.12E+08 | A | G | Olfr1308 | missense_variant | c.344T>C | p.Leu115Pro | 51 | 11.80% |
368N2 | 368muscle | 2 | 1.2E+08 | C | A | Rpap1 | missense_variant | c.1903G>T | p.Ala635Ser | 34 | 8.80% |
373N4 | 373muscle | 2 | 1.2E+08 | C | A | Pla2g4e | missense_variant | c.665G>T | p.Cys222Phe | 38 | 7.90% |
373N3 | 373muscle | 2 | 1.46E+08 | C | A | Cfap61 | missense_variant | c.1976C>A | p.Ala659Asp | 46 | 6.50% |
368N2 | 368muscle | 2 | 1.53E+08 | C | A | Asxl1 | missense_variant | c.3191C>A | p.Pro1064Gln | 84 | 4.80% |
368N4 | 368muscle | 2 | 1.62E+08 | A | G | Ptprt | synonymous_variant | c.295T>C | p.Leu99Leu | 75 | 16.00% |
368N2 | 368muscle | 2 | 1.67E+08 | C | A | B4galt5 | missense_variant | c.766G>T | p.Ala256Ser | 16 | 18.80% |
368N2 | 368muscle | 3 | 86780226 | G | T | Lrba | missense_variant | c.8437G>T | p.Ala2813Ser | 48 | 6.30% |
358N3 | 358muscle | 3 | 88360373 | G | A | Smg5 | synonymous_variant | c.2799G>A | p.Arg933Arg | 86 | 4.70% |
357N1 | 357muscle | 3 | 88367297 | G | A | Paqr6 | missense_variant | c.685G>A | p.Ala229Thr | 22 | 18.20% |
373N3 | 373muscle | 3 | 1.03E+08 | C | A | Csde1 | missense_variant | c.845C>A | p.Pro282Gln | 47 | 6.40% |
357N5 | 357muscle | 3 | 1.04E+08 | C | A | Rsbn1 | missense_variant | c.1871C>A | p.Ala624Asp | 27 | 11.10% |
358N3 | 358muscle | 4 | 24536440 | G | T | Mms22l | synonymous_variant | c.2028G>T | p.Ala676Ala | 77 | 5.20% |
357N1 | 357muscle | 4 | 40738329 | G | T | Smu1 | stop_gained | c.1404C>A | p.Cys468* | 35 | 8.60% |
358N3 | 358muscle | 4 | 41034270 | G | T | Aqp7 | synonymous_variant | c.888C>A | p.Gly296Gly | 17 | 17.60% |
358N1 | 358muscle | 4 | 56937908 | C | A | Tmem245 | missense_variant | c.639G>T | p.Leu213Phe | 19 | 15.80% |
358N2 | 358muscle | 4 | 1.01E+08 | G | T | Jak1 | synonymous_variant | c.1245C>A | p.Leu415Leu | 41 | 7.30% |
368N4 | 368muscle | 4 | 1.26E+08 | C | T | Csf3r | synonymous_variant | c.2145C>T | p.Ser715Ser | 53 | 13.20% |
358N3 | 358muscle | 4 | 1.53E+08 | G | T | Nphp4 | synonymous_variant | c.1500G>T | p.Ser500Ser | 46 | 6.50% |
373N4 | 373muscle | 4 | 1.54E+08 | A | G | Cep104 | missense_variant | c.1544A>G | p.Lys515Arg | 121 | 4.10% |
373N4 | 373muscle | 4 | 1.55E+08 | G | A | Plch2 | synonymous_variant | c.3087C>T | p.Ala1029Ala | 38 | 8.10% |
373N3 | 373muscle | 4 | 1.56E+08 | A | G | Mib2 | synonymous_variant | c.966T>C | p.Ala322Ala | 102 | 5.90% |
358N3 | 358muscle | 4 | 1.56E+08 | C | A | Agrn | missense_variant | c.4334G>T | p.Arg1445Leu | 46 | 6.50% |
368N2 | 368muscle | 5 | 34813050 | C | A | Htt | missense_variant | c.1541C>A | p.Ser514Tyr | 50 | 6.00% |
358N3 | 358muscle | 5 | 63937830 | C | A | Rell1 | stop_gained | c.292G>T | p.Glu98* | 83 | 4.80% |
357N1 | 357muscle | 5 | 1.12E+08 | C | A | Hps4 | synonymous_variant | c.1359C>A | p.Pro453Pro | 39 | 7.70% |
373N3 | 373muscle | 5 | 1.22E+08 | C | A | Rad9b | missense_variant | c.727G>T | p.Ala243Ser | 40 | 7.50% |
368N2 | 368muscle | 6 | 29283208 | G | T | Fam71f2 | missense_variant | c.204G>T | p.Met68Ile | 35 | 8.60% |
357N1 | 357muscle | 6 | 89342587 | G | A | Plxna1 | missense_variant&splice_region_variant | c.1735C>T | p.Pro579Ser | 31 | 9.70% |
358N2 | 358muscle | 6 | 91486900 | C | G | Tmem43 | missense_variant | c.1156C>G | p.Pro386Ala | 89 | 5.60% |
358N3 | 358muscle | 6 | 92189633 | C | T | Zfyve20 | missense_variant | c.2029G>A | p.Ala677Thr | 75 | 20.00% |
373N4 | 373muscle | 6 | 1.29E+08 | G | T | BC048546 | missense_variant | c.2389C>A | p.Pro797Thr | 41 | 7.30% |
358N3 | 358muscle | 7 | 24710200 | C | A | BC049730 | missense_variant | c.43C>A | p.Leu15Met | 28 | 10.70% |
368N2 | 368muscle | 7 | 29292075 | C | A | Ppp1r14a | missense_variant | c.307C>A | p.Pro103Thr | 44 | 6.80% |
368N2 | 368muscle | 7 | 34204130 | T | C | Gpi1 | missense_variant | c.1297A>G | p.Thr433Ala | 46 | 6.50% |
373N3 | 373muscle | 7 | 80738221 | G | A | Iqgap1 | missense_variant | c.2677C>T | p.Arg893Cys | 46 | 6.50% |
358N2 | 358muscle | 7 | 1.18E+08 | C | G | Xylt1 | missense_variant | c.2763C>G | p.Cys921Trp | 38 | 10.50% |
368N4 | 368muscle | 7 | 1.26E+08 | G | A | Gsg1l | synonymous_variant | c.918C>T | p.His306His | 121 | 5.00% |
368N2 | 368muscle | 7 | 1.27E+08 | C | A | Zfp768 | missense_variant | c.937G>T | p.Gly313Cys | 41 | 7.30% |
373N1 | 373muscle | 7 | 1.4E+08 | G | T | Olfr525 | missense_variant | c.686G>T | p.Arg229Leu | 95 | 4.20% |
368N2 | 368muscle | 7 | 1.44E+08 | C | A | Ppfia1 | missense_variant | c.2471G>T | p.Ser824Ile | 48 | 6.30% |
373N1 | 373muscle | 8 | 11517878 | C | G | Cars2 | missense_variant | c.1216G>C | p.Val406Leu | 169 | 8.30% |
368N2 | 368muscle | 8 | 13955760 | C | A | Tdrp | stop_gained | c.160G>T | p.Glu54* | 50 | 6.00% |
368N2 | 368muscle | 8 | 15041975 | C | T | BB014433 | missense_variant | c.877G>A | p.Val293Met | 42 | 14.30% |
358N3 | 358muscle | 8 | 68358564 | G | T | Csgalnact1 | missense_variant | c.1453C>A | p.Pro485Thr | 50 | 6.00% |
373N4 | 373muscle | 8 | 72346037 | C | A | Eps15l1 | missense_variant | c.2509G>T | p.Asp837Tyr | 18 | 16.70% |
373N4 | 373muscle | 8 | 80730168 | C | T | Smarca5 | synonymous_variant | c.444G>A | p.Glu148Glu | 91 | 5.50% |
368N2 | 368muscle | 8 | 95327967 | G | A | Zfp319 | missense_variant | c.1607C>T | p.Ala536Val | 50 | 6.00% |
358N3 | 358muscle | 8 | 1.05E+08 | G | A | Rrad | missense_variant | c.118C>T | p.Pro40Ser | 41 | 7.30% |
358N3 | 358muscle | 8 | 1.08E+08 | G | T | Wwp2 | missense_variant | c.1034G>T | p.Arg345Met | 43 | 7.00% |
358N3 | 358muscle | 8 | 1.11E+08 | C | A | Fuk | missense_variant | c.970G>T | p.Gly324Cys | 40 | 7.50% |
358N3 | 358muscle | 8 | 1.26E+08 | C | A | Ntpcr | synonymous_variant | c.21C>A | p.Leu7Leu | 42 | 7.10% |
357N1 | 357muscle | 9 | 24582820 | C | A | Dpy19l2 | synonymous_variant | c.2013G>T | p.Val671Val | 44 | 6.80% |
358N2 | 358muscle | 9 | 43311472 | G | A | Trim29 | synonymous_variant | c.597G>A | p.Leu199Leu | 173 | 4.00% |
357N5 | 357muscle | 9 | 45450529 | C | T | Dscaml1 | missense_variant | c.586C>T | p.Arg196Cys | 50 | 8.00% |
368N8 | 368muscle | 9 | 55168284 | G | A | Ube2q2 | missense_variant | c.376G>A | p.Asp126Asn | 71 | 7.00% |
368N8 | 368muscle | 9 | 55168290 | C | T | Ube2q2 | missense_variant | c.382C>T | p.Pro128Ser | 69 | 7.20% |
373N1 | 373muscle | 9 | 56260482 | C | T | Peak1 | missense_variant | c.161G>A | p.Arg54Gln | 340 | 2.90% |
358N3 | 358muscle | 9 | 92287625 | C | A | Plscr2 | missense_variant | c.127C>A | p.Gln43Lys | 97 | 4.10% |
357N4 | 357muscle | 9 | 1.08E+08 | G | C | Bsn | missense_variant | c.4976C>G | p.Pro1659Arg | 47 | 21.30% |
368N2 | 368muscle | 10 | 20246611 | C | A | Map7 | missense_variant | c.422C>A | p.Ala141Asp | 37 | 8.10% |
358N3 | 358muscle | 10 | 20322064 | C | G | Bclaf1 | missense_variant | c.52C>G | p.Gln18Glu | 21 | 14.30% |
368N2 | 368muscle | 10 | 38966046 | C | A | Lama4 | missense_variant | c.92C>A | p.Ala31Glu | 47 | 6.40% |
358N2 | 358muscle | 10 | 70534879 | G | A | Fam13c | missense_variant | c.848G>A | p.Ser283Asn | 40 | 20.00% |
357N5 | 357muscle | 10 | 80773112 | C | A | Dot1l | missense_variant | c.502C>A | p.Gln168Lys | 39 | 7.70% |
373N4 | 373muscle | 10 | 81420600 | G | A | Nfic | synonymous_variant | c.229C>T | p.Leu77Leu | 150 | 8.70% |
357N1 | 357muscle | 10 | 1.27E+08 | G | T | Mettl1 | missense_variant | c.577G>T | p.Asp193Tyr | 45 | 6.70% |
373N4 | 373muscle | 11 | 5707370 | G | A | Mrps24 | missense_variant | c.148C>T | p.Pro50Ser | 97 | 4.10% |
358N3 | 358muscle | 11 | 60202880 | C | A | Srebf1 | synonymous_variant | c.2232G>T | p.Ser744Ser | 74 | 5.60% |
357N4 | 357muscle | 11 | 69853226 | A | G | Tnk1 | missense_variant | c.1306T>C | p.Phe436Leu | 114 | 30.70% |
373N3 | 373muscle | 11 | 78499753 | C | A | Vtn | missense_variant | c.237C>A | p.Asp79Glu | 48 | 6.30% |
368N4 | 368muscle | 11 | 87889211 | G | A | Olfr462 | synonymous_variant | c.684C>T | p.His228His | 50 | 6.00% |
357N4 | 357muscle | 11 | 98250228 | A | G | Cdk12 | missense_variant | c.4294A>G | p.Lys1432Glu | 35 | 8.60% |
368N2 | 368muscle | 11 | 1.01E+08 | A | G | Aoc2 | synonymous_variant | c.195A>G | p.Thr65Thr | 38 | 7.90% |
368N2 | 368muscle | 11 | 1.01E+08 | A | G | Aoc2 | missense_variant | c.269A>G | p.Asn90Ser | 35 | 20.00% |
357N4 | 357muscle | 11 | 1.03E+08 | C | G | Fzd2 | synonymous_variant | c.1419C>G | p.Leu473Leu | 109 | 28.40% |
368N2 | 368muscle | 11 | 1.08E+08 | C | A | Helz | synonymous_variant | c.1356C>A | p.Thr452Thr | 32 | 9.40% |
368N2 | 368muscle | 12 | 4209383 | C | A | Adcy3 | synonymous_variant | c.2659C>A | p.Arg887Arg | 44 | 9.10% |
368N4 | 368muscle | 12 | 33342134 | C | A | Atxn7l1 | synonymous_variant | c.771C>A | p.Thr257Thr | 85 | 4.70% |
368N4 | 368muscle | 12 | 70246446 | C | A | Trim9 | synonymous_variant | c.2310G>T | p.Thr770Thr | 67 | 6.00% |
373N1 | 373muscle | 12 | 72567232 | G | A | Pcnxl4 | synonymous_variant | c.1950G>A | p.Leu650Leu | 47 | 6.40% |
368N2 | 368muscle | 12 | 82387603 | C | A | Sipa1l1 | missense_variant | c.2146C>A | p.Gln716Lys | 29 | 10.30% |
358N3 | 358muscle | 12 | 1.02E+08 | G | T | Slc24a4 | synonymous_variant | c.117G>T | p.Leu39Leu | 46 | 6.50% |
368N2 | 368muscle | 12 | 1.02E+08 | C | A | Golga5 | missense_variant | c.197C>A | p.Ala66Asp | 49 | 6.10% |
358N3 | 358muscle | 13 | 73672769 | G | T | Slc6a18 | missense_variant | c.695C>A | p.Ala232Glu | 26 | 11.50% |
357N5 | 357muscle | 13 | 73821238 | G | T | Nkd2 | missense_variant | c.1108C>A | p.Pro370Thr | 46 | 6.50% |
357N1 | 357muscle | 13 | 93387596 | C | A | Homer1 | synonymous_variant | c.648C>A | p.Ala216Ala | 25 | 12.00% |
373N4 | 373muscle | 14 | 7945932 | G | T | Flnb | missense_variant | c.7336G>T | p.Ala2446Ser | 36 | 8.30% |
368N4 | 368muscle | 14 | 54907149 | C | T | Slc22a17 | synonymous_variant | c.1128G>A | p.Arg376Arg | 99 | 4.00% |
357N1 | 357muscle | 14 | 55745048 | C | A | Dhrs1 | missense_variant | c.20G>T | p.Gly7Val | 20 | 15.00% |
358N3 | 358muscle | 15 | 81692128 | G | T | Chadl | synonymous_variant | c.2239C>A | p.Arg747Arg | 66 | 6.10% |
358N3 | 358muscle | 15 | 99104471 | G | T | Dnajc22 | missense_variant | c.996G>T | p.Gln332His | 36 | 8.60% |
373N4 | 373muscle | 16 | 5240002 | G | T | Alg1 | synonymous_variant | c.837G>T | p.Leu279Leu | 63 | 6.30% |
368N4 | 368muscle | 16 | 14233649 | C | A | Myh11 | missense_variant | c.1292G>T | p.Arg431Leu | 74 | 5.40% |
373N3 | 373muscle | 16 | 23357761 | C | T | St6gal1 | missense_variant | c.1103C>T | p.Pro368Leu | 155 | 5.80% |
357N1 | 357muscle | 16 | 45731773 | G | T | Abhd10 | missense_variant | c.736C>A | p.Gln246Lys | 73 | 5.50% |
373N4 | 373muscle | 16 | 56000642 | C | A | Zbtb11 | missense_variant | c.2101C>A | p.Gln701Lys | 38 | 7.90% |
373N4 | 373muscle | 16 | 96673771 | G | T | Dscam | missense_variant | c.3590C>A | p.Ala1197Glu | 47 | 6.40% |
368N2 | 368muscle | 16 | 97576326 | C | A | Tmprss2 | missense_variant&splice_region_variant | c.570G>T | p.Lys190Asn | 47 | 6.40% |
373N4 | 373muscle | 17 | 24265204 | C | A | Abca17 | missense_variant&splice_region_variant | c.4938G>T | p.Lys1646Asn | 48 | 6.30% |
358N3 | 358muscle | 17 | 27101185 | C | A | Itpr3 | synonymous_variant | c.3009C>A | p.Pro1003Pro | 97 | 5.20% |
358N3 | 358muscle | 17 | 28877021 | C | A | Pnpla1 | synonymous_variant | c.415C>A | p.Arg139Arg | 50 | 6.00% |
373N4 | 373muscle | 17 | 28982146 | T | C | Stk38 | synonymous_variant | c.555A>G | p.Thr185Thr | 39 | 25.60% |
368N2 | 368muscle | 17 | 34685203 | G | T | Tnxb | missense_variant | c.3686G>T | p.Gly1229Val | 48 | 6.40% |
357N4 | 357muscle | 17 | 80145171 | C | A | Galm | missense_variant | c.537C>A | p.Phe179Leu | 46 | 6.50% |
368N2 | 368muscle | 18 | 38259948 | G | T | 0610009O20Rik | missense_variant | c.1204G>T | p.Ala402Ser | 20 | 15.00% |
358N1 | 358muscle | 18 | 42337039 | C | A | Rbm27 | missense_variant | c.2900C>A | p.Ser967Tyr | 44 | 6.80% |
358N3 | 358muscle | 18 | 44886378 | C | A | Ythdc2 | missense_variant | c.4213C>A | p.Pro1405Thr | 37 | 8.10% |
368N4 | 368muscle | 19 | 4733741 | G | A | Sptbn2 | missense_variant | c.1741G>A | p.Ala581Thr | 213 | 5.20% |
373N4 | 373muscle | 19 | 8896787 | A | G | Ints5 | synonymous_variant | c.2109A>G | p.Leu703Leu | 49 | 6.10% |
373N4 | 373muscle | 19 | 8896820 | C | T | Ints5 | synonymous_variant | c.2142C>T | p.Thr714Thr | 42 | 9.50% |
368N4 | 368muscle | 19 | 8978064 | G | T | Eef1g | missense_variant | c.1276G>T | p.Val426Leu | 24 | 12.50% |
357N1 | 357muscle | 19 | 34950052 | G | T | Kif20b | missense_variant | c.2713G>T | p.Ala905Ser | 45 | 6.70% |
373N3 | 373muscle | 19 | 40072400 | G | A | Cyp2c54 | missense_variant | c.298C>T | p.Leu100Phe | 101 | 5.00% |
373N3 | 373muscle | 19 | 50225150 | G | A | Sorcs1 | missense_variant | c.2138C>T | p.Ala713Val | 47 | 6.40% |
357N4 | 357muscle | 19 | 55207920 | C | T | Gucy2g | missense_variant | c.2582G>A | p.Arg861His | 244 | 6.10% |
358N2 | 358muscle | 19 | 56851528 | C | T | Tdrd1 | synonymous_variant | c.2019C>T | p.Asp673Asp | 71 | 9.90% |
358N2 | 358muscle | X | 6583974 | A | C | Shroom4 | missense_variant | c.1187A>C | p.Asn396Thr | 26 | 15.40% |
373N3 | 373muscle | X | 20936595 | G | A | Elk1 | synonymous_variant | c.726C>T | p.Gly242Gly | 53 | 7.50% |
358N3 | 358muscle | X | 56501662 | G | T | Ddx26b | missense_variant&splice_region_variant | c.1775G>T | p.Gly592Val | 43 | 7.00% |
357N1 | 357muscle | X | 1.67E+08 | G | T | Tlr7 | missense_variant | c.2212C>A | p.Gln738Lys | 31 | 16.10% |
357N5 | 357muscle | 17 | 24267574 | GCA | G | Abca17 | frameshift_variant | c.4476_4477delTG | p.Ala1493fs | 120 | 3.33% |
358N1 | 358muscle | 6 | 47554188 | GTCA | G | Ezh2 | disruptive_inframe_deletion | c.558_560delTGA | p.Asp187del | 57 | 5.26% |
358N1 | 358muscle | 10 | 58223101 | CA | C | AW822073 | frameshift_variant | c.1007delT | p.Leu336fs | 74 | 5.41% |
358N1 | 358muscle | 15 | 78935001 | C | CAAG | Nol12 | disruptive_inframe_insertion | c.24_26dupGAA | p.Lys9dup | 13 | 30.77% |
358N2 | 358muscle | 11 | 3524692 | CGTG | C | Smtn | disruptive_inframe_deletion | c.2115_2117delCAC | p.Thr706del | 208 | 2.88% |
358N3 | 358muscle | 2 | 1.55E+08 | GT | G | Itch | splice_donor_variant&intron_variant | c.1430+2delT | . | 55 | 5.45% |
358N3 | 358muscle | 4 | 1.37E+08 | GCTT | G | Zbtb40 | inframe_deletion | c.2461_2463delAAG | p.Lys821del | 134 | 3.73% |
358N3 | 358muscle | 5 | 1.11E+08 | TTGC | T | Ep400 | disruptive_inframe_deletion | c.7974_7976delGCA | p.Gln2659del | 90 | 3.33% |
358N3 | 358muscle | 5 | 1.35E+08 | ATC | A | Fkbp6 | frameshift_variant | c.927_928delGA | p.Glu309fs | 84 | 3.57% |
358N3 | 358muscle | 7 | 1.01E+08 | GAC | G | Atg16l2 | frameshift_variant | c.972_973delGT | p.Ser325fs | 191 | 3.66% |
358N3 | 358muscle | 9 | 5302474 | TC | T | Casp1 | frameshift_variant | c.396delC | p.Lys133fs | 64 | 6.25% |
358N3 | 358muscle | 10 | 1.1E+08 | TGAA | T | Nav3 | disruptive_inframe_deletion | c.5574_5576delTTC | p.Ser1859del | 78 | 3.85% |
358N3 | 358muscle | 11 | 84860577 | TG | T | Ggnbp2 | frameshift_variant | c.395delC | p.Ala132fs | 86 | 3.49% |
358N3 | 358muscle | 16 | 32793328 | AATAG | A | Muc20 | frameshift_variant | c.1674_1677delCTAT | p.Tyr559fs | 76 | 3.95% |
368N2 | 368muscle | 12 | 1.04E+08 | TAC | T | Serpina3k | frameshift_variant | c.1161_1162delAC | p.Leu387fs | 108 | 3.70% |
368N4 | 368muscle | 11 | 71182505 | TGAA | T | Nlrp1b | inframe_deletion | c.508_510delTTC | p.Phe170del | 225 | 1.78% |
373N3 | 373muscle | 9 | 38449182 | C | CT | Olfr902 | frameshift_variant | c.313dupT | p.Cys105fs | 131 | 3.82% |
373N4 | 373muscle | 2 | 85770217 | CTG | C | Olfr1013 | frameshift_variant | c.425_426delGT | p.Cys142fs | 85 | 3.53% |
373N4 | 373muscle | 11 | 23745586 | TG | T | Rel | frameshift_variant | c.695delC | p.Ser232fs | 67 | 4.48% |
373N4 | 373muscle | 12 | 76609154 | GGC | G | Sptb | frameshift_variant | c.4151_4152delGC | p.Arg1384fs | 95 | 4.21% |
373N4 | 373muscle | 14 | 48659272 | TCTG | T | Otx2 | inframe_deletion | c.325_327delCAG | p.Gln109del | 68 | 4.41% |
Shown are the results of exome sequencing in the 12 tumor nodules. Relevant information are given such as the position in the chromosome, the reference and alternative alleles, the type of mutation, the amino acid substitution and variant allele frequency.