t/data/mutations.dat

   1 ID           M20132:(362)c.+4G>A; E2K
   2 Feature      DNA; 1
   3 Feature        /label: point, transition
   4 Feature        /proof: computed
   5 Feature        /location: 4
   6 Feature        /upflank: gaagattcagccaagctcaaggatg
   7 Feature        /change: g>a
   8 Feature        /dnflank: aagtgcagttagggctgggaagggt
   9 Feature        /re_site: -BccI
  10 Feature      RNA; 1
  11 Feature        /label: missense
  12 Feature        /proof: experimental
  13 Feature        /location: 4 (M20132::366)
  14 Feature        /upflank: gaagattcagccaagctcaaggatg
  15 Feature        /change: g>a
  16 Feature        /dnflank: aagtgcagttagggctgggaagggt
  17 Feature        /re_site: -BccI
  18 Feature        /codon_table: 1
  19 Feature        /codon: gaa>aaa; 1
  20 Feature        /region: coding
  21 Feature      AA; 1
  22 Feature        /label: substitution, conservative
  23 Feature        /proof: computed
  24 Feature        /location: 2
  25 Feature        /change: E>K
  26 //
  27 ID           M20132:(362)c.+14T>A; L5X
  28 Feature      DNA; 1
  29 Feature        /label: point, transversion
  30 Feature        /proof: computed
  31 Feature        /location: 14
  32 Feature        /upflank: ccaagctcaaggatggaagtgcagt
  33 Feature        /change: t>a
  34 Feature        /dnflank: agggctgggaagggtctaccctcgg
  35 Feature      RNA; 1
  36 Feature        /label: nonsense
  37 Feature        /proof: experimental
  38 Feature        /location: 14 (M20132::376)
  39 Feature        /upflank: ccaagctcaaggatggaagtgcagt
  40 Feature        /change: t>a
  41 Feature        /dnflank: agggctgggaagggtctaccctcgg
  42 Feature        /codon_table: 1
  43 Feature        /codon: tta>taa; 2
  44 Feature        /region: coding
  45 Feature      AA; 1
  46 Feature        /label: truncation
  47 Feature        /proof: computed
  48 Feature        /location: 5
  49 Feature        /change: L>*
  50 //
  51 ID           M20132:(362)c.+4G>A; E2K
  52 Feature      DNA; 1
  53 Feature        /label: point, transition
  54 Feature        /proof: computed
  55 Feature        /location: 4
  56 Feature        /upflank: gaagattcagccaagctcaaggatg
  57 Feature        /change: g>a
  58 Feature        /dnflank: aagtgcagttagggctgggaagggt
  59 Feature        /re_site: -BccI
  60 Feature      RNA; 1
  61 Feature        /label: missense
  62 Feature        /proof: experimental
  63 Feature        /location: 4 (M20132::366)
  64 Feature        /upflank: gaagattcagccaagctcaaggatg
  65 Feature        /change: g>a
  66 Feature        /dnflank: aagtgcagttagggctgggaagggt
  67 Feature        /re_site: -BccI
  68 Feature        /codon_table: 1
  69 Feature        /codon: gaa>aaa; 1
  70 Feature        /region: coding
  71 Feature      AA; 1
  72 Feature        /label: substitution, conservative
  73 Feature        /proof: computed
  74 Feature        /location: 2
  75 Feature        /change: E>K
  76 //
  77 ID           M20132:(362)c.+100delATCCAG; I34del-2
  78 Feature      DNA; 1
  79 Feature        /label: deletion
  80 Feature        /proof: computed
  81 Feature        /location: 100..105
  82 Feature        /upflank: tctgttccagagcgtgcgcgaagtg
  83 Feature        /change: atccag>
  84 Feature        /dnflank: aacccgggccccaggcacccagagg
  85 Feature        /re_site: -BinI, -BsiYI, -DpnI, -Hpy178III, -MboI, +MjaIV
  86 Feature      RNA; 1
  87 Feature        /label: inframe, deletion
  88 Feature        /proof: experimental
  89 Feature        /location: 100..105 (M20132::462..467)
  90 Feature        /upflank: tctgttccagagcgtgcgcgaagtg
  91 Feature        /change: atccag>
  92 Feature        /dnflank: aacccgggccccaggcacccagagg
  93 Feature        /re_site: -BinI, -BsiYI, -DpnI, -Hpy178III, -MboI, +MjaIV
  94 Feature        /codon_table: 1
  95 Feature        /codon: atc>-; 1
  96 Feature        /region: coding
  97 Feature      AA; 1
  98 Feature        /label: deletion
  99 Feature        /proof: computed
 100 Feature        /location: 34..35
 101 Feature        /change: IQ>
 102 //
 103 ID           M20132:(362)c.+101delT; I34delX172
 104 Feature      DNA; 1
 105 Feature        /label: deletion
 106 Feature        /proof: computed
 107 Feature        /location: 101
 108 Feature        /upflank: ctgttccagagcgtgcgcgaagtga
 109 Feature        /change: t>
 110 Feature        /dnflank: ccagaacccgggccccaggcaccca
 111 Feature        /re_site: -BinI, -DpnI, -Hpy178III, +MaeIII, -MboI, +Tsp45I
 112 Feature      RNA; 1
 113 Feature        /label: frameshift, deletion
 114 Feature        /proof: experimental
 115 Feature        /location: 101 (M20132::463)
 116 Feature        /upflank: ctgttccagagcgtgcgcgaagtga
 117 Feature        /change: t>
 118 Feature        /dnflank: ccagaacccgggccccaggcaccca
 119 Feature        /re_site: -BinI, -DpnI, -Hpy178III, +MaeIII, -MboI, +Tsp45I
 120 Feature        /codon_table: 1
 121 Feature        /codon: atc>-; 2
 122 Feature        /region: coding
 123 Feature      AA; 1
 124 Feature        /label: out-of-frame translation, truncation
 125 Feature        /proof: computed
 126 Feature        /location: 34
 127 Feature        /change: I>TRTRAPGTQRPRAQHLPAPVCCCCSSSSSSSSSSSSSSSSSSSSKRLAP
 128 Feature         GSSSSSRVRMVLPKPIVEAPQATWSWMRNSNLHSRSRPWSATPREVASQSLEPPWPPAR
 129 Feature         GCRSSCQHLRTRMTQLPHPRCPCWAPLSPA*
 130 //
 131 ID           M20132:(362)c.+101insGGGCCC; I34ins+2
 132 Feature      DNA; 1
 133 Feature        /label: insertion
 134 Feature        /proof: computed
 135 Feature        /location: 100^101
 136 Feature        /upflank: ctgttccagagcgtgcgcgaagtga
 137 Feature        /change: >gggccc
 138 Feature        /dnflank: tccagaacccgggccccaggcaccc
 139 Feature        /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
 140 Feature         +DraII, +GsuI, +HaeIII, +HgiJII, -MboI, +MnlI, +NlaIV,
 141 Feature         +SduI
 142 Feature      RNA; 1
 143 Feature        /label: inframe, insertion
 144 Feature        /proof: experimental
 145 Feature        /location: 100^101 (M20132::462^463)
 146 Feature        /upflank: ctgttccagagcgtgcgcgaagtga
 147 Feature        /change: >gggccc
 148 Feature        /dnflank: tccagaacccgggccccaggcaccc
 149 Feature        /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
 150 Feature         +DraII, +GsuI, +HaeIII, +HgiJII, -MboI, +MnlI, +NlaIV,
 151 Feature         +SduI
 152 Feature        /codon_table: 1
 153 Feature        /codon: atc>-; 2
 154 Feature        /region: coding
 155 Feature      AA; 1
 156 Feature        /label: insertion, complex
 157 Feature        /proof: computed
 158 Feature        /location: 34
 159 Feature        /change: I>RAL
 160 //
 161 ID           M20132:(362)c.+100insG; I34ins81X
 162 Feature      DNA; 1
 163 Feature        /label: insertion
 164 Feature        /proof: computed
 165 Feature        /location: 99^100
 166 Feature        /upflank: tctgttccagagcgtgcgcgaagtg
 167 Feature        /change: >g
 168 Feature        /dnflank: atccagaacccgggccccaggcacc
 169 Feature        /re_site: +BamHI, +BinI, +NlaIV, +XhoII
 170 Feature      RNA; 1
 171 Feature        /label: frameshift, insertion
 172 Feature        /proof: experimental
 173 Feature        /location: 99^100 (M20132::461^462)
 174 Feature        /upflank: tctgttccagagcgtgcgcgaagtg
 175 Feature        /change: >g
 176 Feature        /dnflank: atccagaacccgggccccaggcacc
 177 Feature        /re_site: +BamHI, +BinI, +NlaIV, +XhoII
 178 Feature        /codon_table: 1
 179 Feature        /codon: atc>-; 1
 180 Feature        /region: coding
 181 Feature      AA; 1
 182 Feature        /label: out-of-frame translation, truncation
 183 Feature        /proof: computed
 184 Feature        /location: 34
 185 Feature        /change: I>DPEPGPQAPRGRERSTSRRQFAAAAAAAAAAAAAAAAAAAAAAAARD*
 186 //
 187 ID           M20132:(362)c.+100AT>GGGCCC; I34ins82X
 188 Feature      DNA; 1
 189 Feature        /label: complex
 190 Feature        /proof: computed
 191 Feature        /location: 100..101
 192 Feature        /upflank: tctgttccagagcgtgcgcgaagtg
 193 Feature        /change: at>gggccc
 194 Feature        /dnflank: ccagaacccgggccccaggcaccca
 195 Feature        /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
 196 Feature         +DraII, +HaeIII, +HgiJII, -Hpy178III, -MboI, +NlaIV, +SduI
 197 Feature      RNA; 1
 198 Feature        /label: frameshift, complex
 199 Feature        /proof: experimental
 200 Feature        /location: 100..101 (M20132::462..463)
 201 Feature        /upflank: tctgttccagagcgtgcgcgaagtg
 202 Feature        /change: at>gggccc
 203 Feature        /dnflank: ccagaacccgggccccaggcaccca
 204 Feature        /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
 205 Feature         +DraII, +HaeIII, +HgiJII, -Hpy178III, -MboI, +NlaIV, +SduI
 206 Feature        /codon_table: 1
 207 Feature        /codon: atc>-; 1
 208 Feature        /region: coding
 209 Feature      AA; 1
 210 Feature        /label: out-of-frame translation, truncation
 211 Feature        /proof: computed
 212 Feature        /location: 34
 213 Feature        /change: I>GPPEPGPQAPRGRERSTSRRQFAAAAAAAAAAAAAAAAAAAAAAAARD*
 214 //
 215 ID           M20132:(362+1)c.-1G>A
 216 Feature      DNA; 1
 217 Feature        /label: point, transition
 218 Feature        /proof: computed
 219 Feature        /location: -1
 220 Feature        /upflank: ggtggaagattcagccaagctcaag
 221 Feature        /change: g>a
 222 Feature        /dnflank: atggaagtgcagttagggctgggaa
 223 Feature        /re_site: -BccI, -FokI, +Hpy178III
 224 Feature      RNA; 1
 225 Feature        /label: unknown
 226 Feature        /proof: experimental
 227 Feature        /location: -1 (M20132::361)
 228 Feature        /upflank: ggtggaagattcagccaagctcaag
 229 Feature        /change: g>a
 230 Feature        /dnflank: atggaagtgcagttagggctgggaa
 231 Feature        /re_site: -BccI, -FokI, +Hpy178III
 232 Feature        /region: 5'UTR
 233 //
 234 ID           M20132:(362)c.+2766T>C
 235 Feature      DNA; 1
 236 Feature        /label: point, transition
 237 Feature        /proof: computed
 238 Feature        /location: 2766
 239 Feature        /upflank: tctatttccacacccagtgaagcat
 240 Feature        /change: t>c
 241 Feature        /dnflank: ggaaaccctatttccccaccccagc
 242 Feature        /re_site: +Hpy188I, +SfaNI, -XcmI
 243 Feature      RNA; 1
 244 Feature        /label: unknown
 245 Feature        /proof: experimental
 246 Feature        /location: 2766 (M20132::3128)
 247 Feature        /upflank: tctatttccacacccagtgaagcat
 248 Feature        /change: t>c
 249 Feature        /dnflank: ggaaaccctatttccccaccccagc
 250 Feature        /re_site: +Hpy188I, +SfaNI, -XcmI
 251 Feature        /region: 3'UTR
 252 //
 253 ID           J02933:(521)g.+12165A>G
 254 Feature      DNA; 1
 255 Feature        /label: point, transition
 256 Feature        /proof: experimental
 257 Feature        /location: 12165 (J02933::12686)
 258 Feature        /upflank: cgcacacctgtggtgcctgccaccc
 259 Feature        /change: a>g
 260 Feature        /dnflank: ctgggttgcccatgattcatttttg
 261 Feature        /re_site: +AciI, -BfiI, -BsrI, +FauI, +NspBII, +Sth132I,
 262 Feature         -TspRI
 263 Feature        /region: 3'UTR; (+1027)
 264 Feature      RNA; 1
 265 Feature        /label: unknown
 266 Feature        /proof: computed
 267 Feature        /location: 2428
 268 Feature        /upflank: cgcacacctgtggtgcctgccaccc
 269 Feature        /change: a>g
 270 Feature        /dnflank: ctgggttgcccatgattcatttttg
 271 Feature        /re_site: +AciI, -BfiI, -BsrI, +FauI, +NspBII, +Sth132I,
 272 Feature         -TspRI
 273 Feature        /region: 3'UTR; (-1)
 274 //
 275 ID           J02933:(521)g.+4G>T; V2F
 276 Feature      DNA; 1
 277 Feature        /label: point, transversion
 278 Feature        /proof: computed
 279 Feature        /location: 4 (J02933::525)
 280 Feature        /upflank: gcagcactgcagagatttcatcatg
 281 Feature        /change: g>t
 282 Feature        /dnflank: tctcccaggccctcaggctcctctg
 283 Feature        /re_site: -BsmAI, -Eco31I
 284 Feature        /region: exon; 1 (+4)
 285 Feature      RNA; 1
 286 Feature        /label: missense
 287 Feature        /proof: experimental
 288 Feature        /location: 4
 289 Feature        /upflank: gcagcactgcagagatttcatcatg
 290 Feature        /change: g>t
 291 Feature        /dnflank: tctcccaggccctcaggctcctctg
 292 Feature        /re_site: -BsmAI, -Eco31I
 293 Feature        /codon_table: 1
 294 Feature        /codon: gtc>ttc; 1
 295 Feature        /region: coding
 296 Feature      AA; 1
 297 Feature        /label: substitution, nonconservative
 298 Feature        /proof: computed
 299 Feature        /location: 2
 300 Feature        /change: V>F
 301 //
 302 ID           J02933:(521)g.+1168G>T; D34Y
 303 Feature      DNA; 1
 304 Feature        /label: point, transversion
 305 Feature        /proof: computed
 306 Feature        /location: 1168 (J02933::1689)
 307 Feature        /upflank: taaggcctcaggaggagaaacacgg
 308 Feature        /change: g>t
 309 Feature        /dnflank: acatgccgtggaagccggggcctca
 310 Feature        /re_site: -BscGI, -Bsp24I, -CjePI, -FinI, +RsaI, -Sth132I,
 311 Feature         +Tsp4CI
 312 Feature        /region: exon; 1 (-29)
 313 Feature      RNA; 1
 314 Feature        /label: missense
 315 Feature        /proof: experimental
 316 Feature        /location: 100
 317 Feature        /upflank: taaggcctcaggaggagaaacacgg
 318 Feature        /change: g>t
 319 Feature        /dnflank: acatgccgtggaagccggggcctca
 320 Feature        /re_site: -BscGI, -Bsp24I, -CjePI, -FinI, +RsaI, -Sth132I,
 321 Feature         +Tsp4CI
 322 Feature        /codon_table: 1
 323 Feature        /codon: gac>tac; 1
 324 Feature        /region: coding
 325 Feature      AA; 1
 326 Feature        /label: substitution, nonconservative
 327 Feature        /proof: computed
 328 Feature        /location: 34
 329 Feature        /change: D>Y
 330 //
 331 ID           J02933:(521+1)g.-4C>G
 332 Feature      DNA; 1
 333 Feature        /label: point, transversion
 334 Feature        /proof: computed
 335 Feature        /location: -4 (J02933::518)
 336 Feature        /upflank: ggcaggggcagcactgcagagattt
 337 Feature        /change: c>g
 338 Feature        /dnflank: atcatggtctcccaggccctcaggc
 339 Feature        /re_site: +BclI, +DpnI, +MboI
 340 Feature        /region: 5'UTR; (-4)
 341 Feature      RNA; 1
 342 Feature        /label: unknown
 343 Feature        /proof: experimental
 344 Feature        /location: -4
 345 Feature        /upflank: ggcaggggcagcactgcagagattt
 346 Feature        /change: c>g
 347 Feature        /dnflank: atcatggtctcccaggccctcaggc
 348 Feature        /re_site: +BclI, +DpnI, +MboI
 349 Feature        /region: 5'UTR; (+31)
 350 //