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ID Sample Gene Amino Acid Position Change References 1 AJHCC06 MORN1 NM_024848:c.G316A:p.G106S
chr1:2318900-2318900 C>T Guichard 2012 2 AJHCC02 ERRFI1 NM_018948:c.281delC:p.P94fs
chr1:8074378-8074378 GΔ Fujimoto 2012
3 AJHCC08 MAN1C1 NM_020379:c.G1147A:p.V383I chr1:26098153
-26098153 G>A
4 AJHCC03 MYSM1 NM_001085487:c.A2250T:p.E750D chr1:59127098
-59127098 T>A
5 AJHCC09 CLCA1 NM_001285:c.T1829C:p.V610A chr1:86960018
-86960018 T>C
6 AJHCC02 PALMD NM_017734:c.C955A:p.H319N chr1:100154771
-100154771 C>A
7 AJHCC03 VPS45 NM_007259:c.C774G:p.D258E chr1:150053510
-150053510 C>G
8 AJHCC09 ARNT NM_001197325:c.T713C:p.M238T chr1:150807059
-150807059 A>G
9 AJHCC10 RPTN NM_001122965:c.C1033A:p.Q345K chr1:152128542
-152128542 G>T
10 AJHCC06 SPRR2B NM_001017418:c.C59T:p.T20M chr1:153043257
-153043257 G>A
11 AJHCC03 DAP3 NM_001199850:c.A541G:p.S181G chr1:155698872
-155698872 A>G
12 AJHCC07 MNDA NM_002432:c.A1159C:p.S387R chr1:158817689
-158817689 A>C Li 2011 13 AJHCC07 MNDA NM_002432:c.T1168G:p.F390V chr1:158817698
-158817698 T>G Li 2011 14 AJHCC07 TOMM40L NM_032174:c.A892T:p.R298X chr1:161198850
-161198850 A>T Guichard 2012 15 AJHCC09 NME7 NM_013330:c.A507G:p.I169M chr1:169267935
-169267935 T>C
16 AJHCC09 STX6 NM_005819:c.C640T:p.R214W chr1:180953864
-180953864 G>A
17 AJHCC09 CACNA1E NM_001205294:c.G5027A:p.G1676D chr1:181741312
-181741312 G>A
18 AJHCC06 RNASEL NM_021133:c.T320C:p.L107P chr1:182555622
-182555622 A>G
19 AJHCC03 HMCN1 NM_031935:c.T1868C:p.F623S chr1:185931689
-185931689 T>C Guichard 2012;
Fujimoto 2012 20 AJHCC09 HMCN1 NM_031935:c.G1957A:p.V653M chr1:185931778
-185931778 G>A Guichard 2012;
Fujimoto 2012 21 AJHCC10 ELF3 NM_001114309:c.G1064A:p.G355D chr1:201984399
-201984399 G>A
22 AJHCC11 CD34 NM_001025109:c.G236A:p.G79D chr1:208073192
-208073192 C>T
23 AJHCC09 RYR2 NM_001035:c.C10699T:p.R3567C chr1:237889582
-237889582 C>T Guichard 2012 24 AJHCC04 C1orf101 NM_001242340:c.C1166T:p.A389V chr1:244735743 C>T
부 록
Appendix 1. 149 cancer-specific mutations by exome sequencing.
25 AJHCC04 THUMPD2 NM_025264:c.G586C:p.A196P chr2:39996936
-39996936 C>G
26 AJHCC09 CCDC88A NM_001135597:c.G1606C:p.A536P chr2:55563867
-55563867 C>G
27 AJHCC05 LRP1B NM_018557:c.G13071T:p.E4357D chr2:141032064
-141032064 C>A
Li 2011;
Guichard 2012;
Fujimoto 2012 28 AJHCC03 XIRP2 NM_001199144:c.A8371G:p.T2791A chr2:168106939
-168106939 A>G Fujimoto 2012 29 AJHCC11 BBS5 NM_152384:c.G66A:p.M22I chr2:170338767
-170338767 G>A
30 AJHCC07 TMEM194B NM_001142645:c.A595G:p.K199E chr2:191382263
-191382263 T>C
31 AJHCC03 SF3B1 NM_012433:c.A2221C:p.K741Q chr2:198266711
-198266711 T>G
32 AJHCC09 AOX1 NM_001159:c.G3826T:p.G1276W chr2:201534325
-201534325 G>T
33 AJHCC03 MDH1B NM_001039845:c.C787G:p.L263V chr2:207619856
-207619856 G>C
34 AJHCC12 UNC80 NM_032504:c.A2078T:p.E693V chr2:210685150
-210685150 A>T
35 AJHCC02 UNC80 NM_032504:c.G3441C:p.E1147D chr2:210707151
-210707151 G>C
36 AJHCC03 USP40 NM_018218:c.C1516T:p.P506S chr2:234438147
-234438147 G>A
37 AJHCC03 SPP2 NM_006944:c.G364A:p.V122I chr2:234969043
-234969043 G>A
38 AJHCC03 ANKRD28 NM_001195099:c.G2252T:p.S751I chr3:15718550
-15718550 C>A
39 AJHCC07 GOLGA4 NM_002078:c.A3526G:p.S1176G chr3:37366903
-37366903 A>G Guichard 2012 40 AJHCC02 EXOG NM_005107:c.G164T:p.G55V chr3:38539120
-38539120 G>T
41 AJHCC09 SCN5A NM_001099405:c.G5005A:p.G1669S chr3:38592804
-38592804 C>T
42 AJHCC02 CTNNB1 NM_001098209:c.T1161G:p.N387K chr3:41274911
-41274911 T>G
Li 2011;
Guichard 2012;
Fujimoto 2012 43 AJHCC02 C3orf23 NM_173826:c.A1022G:p.Y341C chr3:44441983
-44441983 A>G
44 AJHCC10 SETD2 NM_014159:c.G5340A:p.W1780X chr3:47127742
-47127742 C>T
45 AJHCC09 CACNA2D3 NM_018398:c.T2666A:p.L889X chr3:55021756
-55021756 T>A
46 AJHCC09 OR5AC2 NM_054106:c.C166A:p.H56N chr3:97806182
-97806182 C>A
47 AJHCC09 SIDT1 NM_017699:c.T994A:p.Y332N chr3:113304110
-113304110 T>A Li 2011 48 AJHCC03 COL6A5 NM_153264:c.T4013A:p.V1338E chr3:130119896
-130119896 T>A
49 AJHCC03 PCCB NM_000532:c.G470C:p.G157A chr3:135980834
-135980834 G>C
50 AJHCC12 SI NM_001041:c.C3487T:p.H1163Y chr3:164735791
-164735791 G>A
51 AJHCC09 GNB4 NM_021629:c.A154T:p.R52W chr3:179137236
-179137236 T>A
-195516488 53 AJHCC03 TIGD2 NM_145715:c.A670T:p.N224Y chr4:90034795
-90034795 A>T
54 AJHCC01 LRBA NM_001199282:c.C5456T:p.A1819V chr4:151727485
-151727485 G>A
55 AJHCC10 IRF2 NM_002199:c.A119T:p.H40L chr4:185340691
-185340691 T>A
56 AJHCC10 DROSHA NM_001100412:c.T3374C:p.L1125S chr5:31421419
-31421419 A>G
57 AJHCC03 RNF180 NM_001113561:c.C971G:p.T324S chr5:63510124
-63510124 C>G
58 AJHCC04 ANKRD32 NM_032290:c.C632T:p.S211F chr5:93985196
-93985196 C>T
59 AJHCC09 SLC12A2 NM_001046:c.A1023G:p.I341M chr5:127450348
-127450348 A>G
60 AJHCC08 C5orf48 NM_207408:c.237_238del:p.79_80del chr5:129571765
-129571766 CTΔ
61 AJHCC07 MATR3 NM_001194956:c.G268T:p.A90S chr5:138652744
-138652744 G>T
62 AJHCC03 PCDHB5 NM_015669:c.G955T:p.V319L chr5:140515971
-140515971 G>T
63 AJHCC10 PCDHB11 NM_018931:c.C1157A:p.P386Q chr5:140580504
-140580504 C>A
64 AJHCC09 G3BP1 NM_005754:c.A1186T:p.S396C chr5:151180422
-151180422 A>T
65 AJHCC03 KIF4B NM_001099293:c.C2941T:p.Q981X chr5:154396360
-154396360 C>T
66 AJHCC06 HIST1H2B
D NM_021063:c.A287G:p.Q96R chr6:26158684
-26158684 A>G
67 AJHCC07 HIST1H2AL NM_003511:c.G295C:p.G99R chr6:27833427
-27833427 G>C
68 AJHCC01 OR2J 3 NM_001005216:c.A406T:p.T136S chr6:29080073
-29080073 A>T
69 AJHCC09 MOG NM_001170418:c.A224C:p.E75A chr6:29635681
-29635681 A>C
70 AJHCC10 MUC21 NM_001010909:c.G667A:p.G223S chr6:30954619
-30954619 G>A
71 AJHCC02 SLC26A8 NM_138718:c.T2594G:p.V865G chr6:35911681
-35911681 A>C
72 AJHCC06 C6orf132 NM_001164446:c.C2065A:p.P689T chr6:42073585
-42073585 G>T
73 AJHCC09 GSTA4 NM_001512:c.A391G:p.R131G chr6:52849285
-52849285 T>C
74 AJHCC03 ME1 NM_002395:c.C508T:p.P170S chr6:84055984
-84055984 G>A
75 AJHCC08 TBX18 NM_001080508:c.T691G:p.S231A chr6:85466496
-85466496 A>C
76 AJHCC01 C6orf186 NM_001123364:c.T949A:p.W317R chr6:110567301
-110567301 A>T
77 AJHCC11 FYN NM_153047:c.T1184A:p.V395E chr6:112015658
-112015658 A>T
78 AJHCC10 CEP85L NM_001042475:c.G1246A:p.A416T chr6:118832472
-118832472 C>T
79 AJHCC11 RPS12 NM_001016:c.C301T:p.R101C chr6:133138165
-133138165 C>T
80 AJHCC06 C6orf211 NM_024573:c.G975A:p.M325I chr6:151789894
-151789894 G>A
chr7:50513686
82 AJHCC10 GRB10 NM_001001549:c.984delA:p.K328fs chr7:50680510
-50680510 TΔ
83 AJHCC04 SAMD9L NM_152703:c.G2461A:p.V821I chr7:92762824
-92762824 C>T
84 AJHCC01 COL1A2 NM_000089:c.G1615T:p.V539F chr7:94043209
-94043209 G>T
85 AJHCC09 MUC17 NM_001040105:c.T5896A:p.S1966T chr7:100680593
-100680593 T>A
86 AJHCC05 DLD NM_000108:c.G406C:p.G136R chr7:107545471
-107545471 G>C
87 AJHCC06 SLC13A1 NM_022444:c.T1643A:p.I548N chr7:122757532
-122757532 A>T
88 AJHCC12 TRAM1 NM_014294:c.T356G:p.F119C chr8:71510200
-71510200 A>C
89 AJHCC04 POP1 NM_001145860:c.1371delG:p.E457fs chr8:99152314
-99152314 GΔ
90 AJHCC01 NSMCE2 NM_173685:c.G448A:p.G150R chr8:126369490
-126369490 G>A
91 AJHCC02 FAM49B NM_016623:c.G851C:p.C284S chr8:130859110
-130859110 C>G
92 AJHCC10 LRRC6 NM_012472:c.G1072A:p.V358M chr8:133622480
-133622480 C>T
93 AJHCC05 IFT74 NM_001099222:c.G865A:p.D289N chr9:27016980
-27016980 G>A
94 AJHCC06 IARS NM_002161:c.1705delT:p.Y569fs chr9:95025333
-95025333 AΔ
95 AJHCC10 BAAT NM_001127610:c.331_332insA:p.E111
fs chr9:104133356
-104133356 Tins
96 AJHCC09 ZNF883 NM_001101338:c.T19C:p.Y7H chr9:115760521
-115760521 A>G Fujimoto 2012 97 AJHCC10 CUBN NM_001081:c.G4133A:p.R1378H chr10:17061867
-17061867 C>T Guichard 2012;
Fujimoto 2012 98 AJHCC11 ZNF239 NM_001099283:c.A1325T:p.Q442L chr10:44052203
-44052203 T>A
99 AJHCC02 WDFY4 NM_020945:c.G6101A:p.G2034D chr10:50034834
-50034834 G>A
100 AJHCC01 PRKG1 NM_001098512:c.T1722G:p.I574M chr10:54048543
-54048543 T>G
101 AJHCC02 ENTPD1 NM_001164183:c.G724T:p.E242X chr10:97620289
-97620289 G>T
102 AJHCC01 OR52I1 NM_001005169:c.T668C:p.I223T chr11:4615936
-4615936 T>C
103 AJHCC12 MS4A6E NM_139249:c.A276G:p.I92M chr11:60105342
-60105342 A>G
104 AJHCC09 USP28 NM_020886:c.A2675G:p.Y892C chr11:11367458
3-113674583 T>C
105 AJHCC10 LEPREL2 NM_014262:c.C1869A;p.D623E chr12:6947161
-6947161 C>A
106 AJHCC11 CLEC12A NM_201623:c.A410C:p.K137T chr12:10133310
-10133310 A>C
107 AJHCC04 TAS2R42 NM_181429:c.C617T:p.S206F chr12:11338927
-11338927 G>A
108 AJHCC07 SLCO1C1 NM_001145944:c.C352T:p.P118S chr12:20870095
-20870095 C>T Li 2011 109 AJHCC01 CCNT1 NM_001240:c.A748C:p.N250H chr12:49089571
-49089571 T>G
chr12:50500201
111 AJHCC11 SCN8A NM_001177984:c.G4467A:p.M1489I chr12:52188220
-52188220 G>A
112 AJHCC11 SCN8A NM_001177984:c.C4614G:p.Y1538X chr12:52188367
-52188367 C>G
113 AJHCC09 BAZ2A NM_013449:c.G1651T:p.E551X chr12:57005382
-57005382 C>A
114 AJHCC09 XPOT NM_007235:c.G1273A:p.A425T chr12:64818469
-64818469 G>A Fujimoto 2012 115 AJHCC03 DYRK2 NM_003583:c.G334T:p.G112C chr12:68051240
-68051240 G>T
116 AJHCC11 UTP20 NM_014503:c.A6884G:p.E2295G chr12:10176718
4-101767184 A>G
117 AJHCC09 MYBPC1 NM_206821:c.C2714G:p.P905R chr12:10206738
0-102067380 C>G
118 AJHCC03 TXNDC16 NM_001160047:c.C2180T:p.T727I chr14:52899305
-52899305 G>A
119 AJHCC10 SYT16 NM_031914:c.C11T:p.A4V chr14:62462748
-62462748 C>T
120 AJHCC04 PPP1R14D NM_017726:c.C358T:p.P120S chr15:41108174
-41108174 G>A
121 AJHCC03 GANC NM_198141:c.A941G:p.Q314R chr15:42602928
-42602928 A>G
122 AJHCC07 UBR1 NM_174916:c.C3962T:p.T1321I chr15:43281052
-43281052 G>A
123 AJHCC06 TRPM7 NM_017672:c.T695A:p.L232Q chr15:50929756
-50929756 A>T
124 AJHCC03 VPS13C NM_017684:c.A6796G:p.I2266V chr15:62214646
-62214646 T>C
125 AJHCC03 CHSY1 NM_014918:c.G2131T:p.V711F chr15:10171787
1-101717871 C>A
126 AJHCC09 CNOT1 NM_016284:c.G5929A:p.D1977N chr16:58566266
-58566266 C>T
127 AJHCC05 DNAAF1 NM_178452:c.G930C:p.E310D chr16:84199455
-84199455 G>C
128 AJHCC02 YWHAE NM_006761:c.G515T:p.G172V chr17:1264449
-1264449 C>A
129 AJHCC10 SUPT6H NM_003170:c.G298A:p.D100N chr17:27001584
-27001584 G>A Fujimoto 2012 130 AJHCC02 CCL7 NM_006273:c.G61A:p.G21R chr17:32597370
-32597370 G>A
131 AJHCC05 EME1 NM_001166131:c.T961C:p.F321L chr17:48456013
-48456013 T>C
132 AJHCC07 ERN1 NM_001433:c.A266G:p.N89S chr17:62157038
-62157038 T>C Guichard 2012 133 AJHCC05 ABCA5 NM_018672:c.A3140G:p.H1047R chr17:67264088
-67264088 T>C Fujimoto 2012 134 AJHCC05 ASXL3 NM_030632:c.G1489T:p.D497Y chr18:31318857
-31318857 G>T
135 AJHCC06 SMAD4 NM_005359:c.G1094C:p.G365A chr18:48591931
-48591931 G>C
136 AJHCC01 DOK6 NM_152721:c.A628C:p.T210P chr18:67406229
-67406229 A>C
137 AJHCC02 CYB5A NM_001190807:c.G300T:p.W100C chr18:71920894
-71920894 C>A
138 AJHCC01 ITPKC NM_025194:c.G292T:p.A98S chr19:41223332
-41223332 G>T
139 AJHCC07 ZNF175 NM_007147:c.G2086C:p.D696H chr19:52091670
-52091670 G>C
-53856536 141 AJHCC09 NCOA6 NM_001242539:c.A2834T:p.Q945L chr20:33334691
-33334691 T>A
142 AJHCC12 PIGT NM_001184730:c.G392T:p.S131I chr20:44048792
-44048792 G>T
143 AJHCC03 UBE2C NM_181800:c.G373A:p.E125K chr20:44444531
-44444531 G>A
144 AJHCC08 KRTAP26-1 NM_203405:c.G503T:p.C168F chr21:31691851
-31691851 C>A
145 AJHCC02 CHEK2 NM_007194:c.G920A:p.G307E chr22:29095914
-29095914 C>T
146 AJHCC11 FAM47A NM_203408:c.T2156A:p.L719H chrX:34148240
-34148240 A>T
147 AJHCC10 ITIH6 NM_198510:c.C143A:p.S48Y chrX:54823489
-54823489 G>T
148 AJHCC10 ITIH6 NM_198510:c.C134A:p.T45K chrX:54823498
-54823498 G>T
149 AJHCC11 FGL1 NM_004467:c.546_547insA:p.N182fs chr8:17726470
-17726470 Tins
ABSTRACT