Mercurial > repos > bgruening > pharmcat
comparison test-data/test_4.json @ 1:891283e0ee89 draft default tip
"planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit dddf99b20ed9b07334505917f362785e3dace3b9"
author | bgruening |
---|---|
date | Thu, 05 May 2022 20:27:17 +0000 |
parents | d67642a21a1d |
children |
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0:d67642a21a1d | 1:891283e0ee89 |
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1 [ | 1 [ |
2 { | |
3 "geneSymbol": "ABCG2", | |
4 "chr": "chr4", | |
5 "phased": true, | |
6 "callSource": "MATCHER", | |
7 "uncalledHaplotypes": [ | |
8 "rs2231142 reference (G)", | |
9 "rs2231142 variant (T)" | |
10 ], | |
11 "messages": [], | |
12 "relatedDrugs": [], | |
13 "matcherDiplotypes": [ | |
14 { | |
15 "allele1": { | |
16 "gene": "ABCG2", | |
17 "name": "Unknown", | |
18 "function": "Unassigned function", | |
19 "reference": false | |
20 }, | |
21 "allele2": { | |
22 "gene": "ABCG2", | |
23 "name": "Unknown", | |
24 "function": "Unassigned function", | |
25 "reference": false | |
26 }, | |
27 "gene": "ABCG2", | |
28 "phenotypes": [ | |
29 "No Result" | |
30 ], | |
31 "variant": null, | |
32 "lookupKey": [ | |
33 "No Result" | |
34 ], | |
35 "label": "Unknown/Unknown" | |
36 } | |
37 ], | |
38 "diplotypes": [ | |
39 { | |
40 "allele1": { | |
41 "gene": "ABCG2", | |
42 "name": "Unknown", | |
43 "function": "Unassigned function", | |
44 "reference": false | |
45 }, | |
46 "allele2": { | |
47 "gene": "ABCG2", | |
48 "name": "Unknown", | |
49 "function": "Unassigned function", | |
50 "reference": false | |
51 }, | |
52 "gene": "ABCG2", | |
53 "phenotypes": [ | |
54 "No Result" | |
55 ], | |
56 "variant": null, | |
57 "lookupKey": [ | |
58 "No Result" | |
59 ], | |
60 "label": "Unknown/Unknown" | |
61 } | |
62 ], | |
63 "variants": [ | |
64 { | |
65 "gene": "ABCG2", | |
66 "chromosome": "chr4", | |
67 "position": 88131171, | |
68 "dbSnpId": "rs2231142", | |
69 "call": null, | |
70 "alleles": [ | |
71 "rs2231142 variant (T)" | |
72 ], | |
73 "phased": false, | |
74 "wildtypeAllele": "G", | |
75 "mismatch": false, | |
76 "warnings": [] | |
77 } | |
78 ], | |
79 "variantsOfInterest": [], | |
80 "highlightedVariants": [] | |
81 }, | |
2 { | 82 { |
3 "geneSymbol": "CACNA1S", | 83 "geneSymbol": "CACNA1S", |
4 "chr": "chr1", | 84 "chr": "chr1", |
5 "phased": true, | 85 "phased": true, |
6 "callSource": "MATCHER", | 86 "callSource": "MATCHER", |
20 "name": "Reference", | 100 "name": "Reference", |
21 "function": "Normal Function", | 101 "function": "Normal Function", |
22 "reference": true | 102 "reference": true |
23 }, | 103 }, |
24 "gene": "CACNA1S", | 104 "gene": "CACNA1S", |
25 "phenotype": "Uncertain Susceptibility", | 105 "phenotypes": [ |
106 "Uncertain Susceptibility" | |
107 ], | |
26 "variant": null, | 108 "variant": null, |
27 "lookupKey": "Uncertain Susceptibility", | 109 "lookupKey": [ |
110 "Uncertain Susceptibility" | |
111 ], | |
28 "label": "Reference/Reference" | 112 "label": "Reference/Reference" |
29 } | 113 } |
30 ], | 114 ], |
31 "diplotypes": [ | 115 "diplotypes": [ |
32 { | 116 { |
41 "name": "Reference", | 125 "name": "Reference", |
42 "function": "Normal Function", | 126 "function": "Normal Function", |
43 "reference": true | 127 "reference": true |
44 }, | 128 }, |
45 "gene": "CACNA1S", | 129 "gene": "CACNA1S", |
46 "phenotype": "Uncertain Susceptibility", | 130 "phenotypes": [ |
131 "Uncertain Susceptibility" | |
132 ], | |
47 "variant": null, | 133 "variant": null, |
48 "lookupKey": "Uncertain Susceptibility", | 134 "lookupKey": [ |
135 "Uncertain Susceptibility" | |
136 ], | |
49 "label": "Reference/Reference" | 137 "label": "Reference/Reference" |
50 } | 138 } |
51 ], | 139 ], |
52 "variants": [ | 140 "variants": [ |
53 { | 141 { |
59 "alleles": [ | 147 "alleles": [ |
60 "c.3257G\u003eA" | 148 "c.3257G\u003eA" |
61 ], | 149 ], |
62 "phased": false, | 150 "phased": false, |
63 "wildtypeAllele": "C", | 151 "wildtypeAllele": "C", |
64 "mismatch": false | 152 "mismatch": false, |
153 "warnings": [] | |
65 }, | 154 }, |
66 { | 155 { |
67 "gene": "CACNA1S", | 156 "gene": "CACNA1S", |
68 "chromosome": "chr1", | 157 "chromosome": "chr1", |
69 "position": 201091993, | 158 "position": 201091993, |
72 "alleles": [ | 161 "alleles": [ |
73 "c.520C\u003eT" | 162 "c.520C\u003eT" |
74 ], | 163 ], |
75 "phased": false, | 164 "phased": false, |
76 "wildtypeAllele": "G", | 165 "wildtypeAllele": "G", |
77 "mismatch": false | 166 "mismatch": false, |
167 "warnings": [] | |
78 } | 168 } |
79 ], | 169 ], |
80 "variantsOfInterest": [], | 170 "variantsOfInterest": [], |
81 "highlightedVariants": [] | 171 "highlightedVariants": [] |
82 }, | 172 }, |
101 "name": "ivacaftor non-responsive CFTR sequence", | 191 "name": "ivacaftor non-responsive CFTR sequence", |
102 "function": "ivacaftor non-responsive", | 192 "function": "ivacaftor non-responsive", |
103 "reference": true | 193 "reference": true |
104 }, | 194 }, |
105 "gene": "CFTR", | 195 "gene": "CFTR", |
106 "phenotype": "ivacaftor non-responsive in CF patients", | 196 "phenotypes": [ |
197 "ivacaftor non-responsive in CF patients" | |
198 ], | |
107 "variant": null, | 199 "variant": null, |
108 "lookupKey": "ivacaftor non-responsive in CF patients", | 200 "lookupKey": [ |
201 "ivacaftor non-responsive in CF patients" | |
202 ], | |
109 "label": "No CPIC variants found" | 203 "label": "No CPIC variants found" |
110 } | 204 } |
111 ], | 205 ], |
112 "diplotypes": [ | 206 "diplotypes": [ |
113 { | 207 { |
122 "name": "ivacaftor non-responsive CFTR sequence", | 216 "name": "ivacaftor non-responsive CFTR sequence", |
123 "function": "ivacaftor non-responsive", | 217 "function": "ivacaftor non-responsive", |
124 "reference": true | 218 "reference": true |
125 }, | 219 }, |
126 "gene": "CFTR", | 220 "gene": "CFTR", |
127 "phenotype": "ivacaftor non-responsive in CF patients", | 221 "phenotypes": [ |
222 "ivacaftor non-responsive in CF patients" | |
223 ], | |
128 "variant": null, | 224 "variant": null, |
129 "lookupKey": "ivacaftor non-responsive in CF patients", | 225 "lookupKey": [ |
226 "ivacaftor non-responsive in CF patients" | |
227 ], | |
130 "label": "No CPIC variants found" | 228 "label": "No CPIC variants found" |
131 } | 229 } |
132 ], | 230 ], |
133 "variants": [ | 231 "variants": [ |
134 { | 232 { |
140 "alleles": [ | 238 "alleles": [ |
141 "E56K" | 239 "E56K" |
142 ], | 240 ], |
143 "phased": false, | 241 "phased": false, |
144 "wildtypeAllele": "G", | 242 "wildtypeAllele": "G", |
145 "mismatch": false | 243 "mismatch": false, |
244 "warnings": [] | |
146 }, | 245 }, |
147 { | 246 { |
148 "gene": "CFTR", | 247 "gene": "CFTR", |
149 "chromosome": "chr7", | 248 "chromosome": "chr7", |
150 "position": 117509069, | 249 "position": 117509069, |
153 "alleles": [ | 252 "alleles": [ |
154 "P67L" | 253 "P67L" |
155 ], | 254 ], |
156 "phased": false, | 255 "phased": false, |
157 "wildtypeAllele": "C", | 256 "wildtypeAllele": "C", |
158 "mismatch": false | 257 "mismatch": false, |
258 "warnings": [] | |
159 }, | 259 }, |
160 { | 260 { |
161 "gene": "CFTR", | 261 "gene": "CFTR", |
162 "chromosome": "chr7", | 262 "chromosome": "chr7", |
163 "position": 117509089, | 263 "position": 117509089, |
166 "alleles": [ | 266 "alleles": [ |
167 "R74W" | 267 "R74W" |
168 ], | 268 ], |
169 "phased": false, | 269 "phased": false, |
170 "wildtypeAllele": "C", | 270 "wildtypeAllele": "C", |
171 "mismatch": false | 271 "mismatch": false, |
272 "warnings": [] | |
172 }, | 273 }, |
173 { | 274 { |
174 "gene": "CFTR", | 275 "gene": "CFTR", |
175 "chromosome": "chr7", | 276 "chromosome": "chr7", |
176 "position": 117530953, | 277 "position": 117530953, |
179 "alleles": [ | 280 "alleles": [ |
180 "D110H" | 281 "D110H" |
181 ], | 282 ], |
182 "phased": false, | 283 "phased": false, |
183 "wildtypeAllele": "G", | 284 "wildtypeAllele": "G", |
184 "mismatch": false | 285 "mismatch": false, |
286 "warnings": [] | |
185 }, | 287 }, |
186 { | 288 { |
187 "gene": "CFTR", | 289 "gene": "CFTR", |
188 "chromosome": "chr7", | 290 "chromosome": "chr7", |
189 "position": 117530955, | 291 "position": 117530955, |
192 "alleles": [ | 294 "alleles": [ |
193 "D110E" | 295 "D110E" |
194 ], | 296 ], |
195 "phased": false, | 297 "phased": false, |
196 "wildtypeAllele": "C", | 298 "wildtypeAllele": "C", |
197 "mismatch": false | 299 "mismatch": false, |
300 "warnings": [] | |
198 }, | 301 }, |
199 { | 302 { |
200 "gene": "CFTR", | 303 "gene": "CFTR", |
201 "chromosome": "chr7", | 304 "chromosome": "chr7", |
202 "position": 117530974, | 305 "position": 117530974, |
205 "alleles": [ | 308 "alleles": [ |
206 "R117C" | 309 "R117C" |
207 ], | 310 ], |
208 "phased": false, | 311 "phased": false, |
209 "wildtypeAllele": "C", | 312 "wildtypeAllele": "C", |
210 "mismatch": false | 313 "mismatch": false, |
314 "warnings": [] | |
211 }, | 315 }, |
212 { | 316 { |
213 "gene": "CFTR", | 317 "gene": "CFTR", |
214 "chromosome": "chr7", | 318 "chromosome": "chr7", |
215 "position": 117530975, | 319 "position": 117530975, |
218 "alleles": [ | 322 "alleles": [ |
219 "R117H" | 323 "R117H" |
220 ], | 324 ], |
221 "phased": false, | 325 "phased": false, |
222 "wildtypeAllele": "G", | 326 "wildtypeAllele": "G", |
223 "mismatch": false | 327 "mismatch": false, |
328 "warnings": [] | |
224 }, | 329 }, |
225 { | 330 { |
226 "gene": "CFTR", | 331 "gene": "CFTR", |
227 "chromosome": "chr7", | 332 "chromosome": "chr7", |
228 "position": 117534318, | 333 "position": 117534318, |
231 "alleles": [ | 336 "alleles": [ |
232 "G178R" | 337 "G178R" |
233 ], | 338 ], |
234 "phased": false, | 339 "phased": false, |
235 "wildtypeAllele": "G", | 340 "wildtypeAllele": "G", |
236 "mismatch": false | 341 "mismatch": false, |
342 "warnings": [] | |
237 }, | 343 }, |
238 { | 344 { |
239 "gene": "CFTR", | 345 "gene": "CFTR", |
240 "chromosome": "chr7", | 346 "chromosome": "chr7", |
241 "position": 117534363, | 347 "position": 117534363, |
244 "alleles": [ | 350 "alleles": [ |
245 "E193K" | 351 "E193K" |
246 ], | 352 ], |
247 "phased": false, | 353 "phased": false, |
248 "wildtypeAllele": "G", | 354 "wildtypeAllele": "G", |
249 "mismatch": false | 355 "mismatch": false, |
356 "warnings": [] | |
250 }, | 357 }, |
251 { | 358 { |
252 "gene": "CFTR", | 359 "gene": "CFTR", |
253 "chromosome": "chr7", | 360 "chromosome": "chr7", |
254 "position": 117534368, | 361 "position": 117534368, |
257 "alleles": [ | 364 "alleles": [ |
258 "711+3A-\u003eG" | 365 "711+3A-\u003eG" |
259 ], | 366 ], |
260 "phased": false, | 367 "phased": false, |
261 "wildtypeAllele": "A", | 368 "wildtypeAllele": "A", |
262 "mismatch": false | 369 "mismatch": false, |
370 "warnings": [] | |
263 }, | 371 }, |
264 { | 372 { |
265 "gene": "CFTR", | 373 "gene": "CFTR", |
266 "chromosome": "chr7", | 374 "chromosome": "chr7", |
267 "position": 117535285, | 375 "position": 117535285, |
270 "alleles": [ | 378 "alleles": [ |
271 "L206W" | 379 "L206W" |
272 ], | 380 ], |
273 "phased": false, | 381 "phased": false, |
274 "wildtypeAllele": "T", | 382 "wildtypeAllele": "T", |
275 "mismatch": false | 383 "mismatch": false, |
384 "warnings": [] | |
276 }, | 385 }, |
277 { | 386 { |
278 "gene": "CFTR", | 387 "gene": "CFTR", |
279 "chromosome": "chr7", | 388 "chromosome": "chr7", |
280 "position": 117540270, | 389 "position": 117540270, |
283 "alleles": [ | 392 "alleles": [ |
284 "R347H" | 393 "R347H" |
285 ], | 394 ], |
286 "phased": false, | 395 "phased": false, |
287 "wildtypeAllele": "G", | 396 "wildtypeAllele": "G", |
288 "mismatch": false | 397 "mismatch": false, |
398 "warnings": [] | |
289 }, | 399 }, |
290 { | 400 { |
291 "gene": "CFTR", | 401 "gene": "CFTR", |
292 "chromosome": "chr7", | 402 "chromosome": "chr7", |
293 "position": 117540285, | 403 "position": 117540285, |
296 "alleles": [ | 406 "alleles": [ |
297 "R352Q" | 407 "R352Q" |
298 ], | 408 ], |
299 "phased": false, | 409 "phased": false, |
300 "wildtypeAllele": "G", | 410 "wildtypeAllele": "G", |
301 "mismatch": false | 411 "mismatch": false, |
412 "warnings": [] | |
302 }, | 413 }, |
303 { | 414 { |
304 "gene": "CFTR", | 415 "gene": "CFTR", |
305 "chromosome": "chr7", | 416 "chromosome": "chr7", |
306 "position": 117548795, | 417 "position": 117548795, |
309 "alleles": [ | 420 "alleles": [ |
310 "A455E" | 421 "A455E" |
311 ], | 422 ], |
312 "phased": false, | 423 "phased": false, |
313 "wildtypeAllele": "C", | 424 "wildtypeAllele": "C", |
314 "mismatch": false | 425 "mismatch": false, |
426 "warnings": [] | |
315 }, | 427 }, |
316 { | 428 { |
317 "gene": "CFTR", | 429 "gene": "CFTR", |
318 "chromosome": "chr7", | 430 "chromosome": "chr7", |
319 "position": 117587799, | 431 "position": 117587799, |
322 "alleles": [ | 434 "alleles": [ |
323 "S549R(A\u003eC)" | 435 "S549R(A\u003eC)" |
324 ], | 436 ], |
325 "phased": false, | 437 "phased": false, |
326 "wildtypeAllele": "A", | 438 "wildtypeAllele": "A", |
327 "mismatch": false | 439 "mismatch": false, |
440 "warnings": [] | |
328 }, | 441 }, |
329 { | 442 { |
330 "gene": "CFTR", | 443 "gene": "CFTR", |
331 "chromosome": "chr7", | 444 "chromosome": "chr7", |
332 "position": 117587800, | 445 "position": 117587800, |
335 "alleles": [ | 448 "alleles": [ |
336 "S549N" | 449 "S549N" |
337 ], | 450 ], |
338 "phased": false, | 451 "phased": false, |
339 "wildtypeAllele": "G", | 452 "wildtypeAllele": "G", |
340 "mismatch": false | 453 "mismatch": false, |
454 "warnings": [] | |
341 }, | 455 }, |
342 { | 456 { |
343 "gene": "CFTR", | 457 "gene": "CFTR", |
344 "chromosome": "chr7", | 458 "chromosome": "chr7", |
345 "position": 117587801, | 459 "position": 117587801, |
348 "alleles": [ | 462 "alleles": [ |
349 "S549R(T\u003eG)" | 463 "S549R(T\u003eG)" |
350 ], | 464 ], |
351 "phased": false, | 465 "phased": false, |
352 "wildtypeAllele": "T", | 466 "wildtypeAllele": "T", |
353 "mismatch": false | 467 "mismatch": false, |
468 "warnings": [] | |
354 }, | 469 }, |
355 { | 470 { |
356 "gene": "CFTR", | 471 "gene": "CFTR", |
357 "chromosome": "chr7", | 472 "chromosome": "chr7", |
358 "position": 117587805, | 473 "position": 117587805, |
361 "alleles": [ | 476 "alleles": [ |
362 "G551S" | 477 "G551S" |
363 ], | 478 ], |
364 "phased": false, | 479 "phased": false, |
365 "wildtypeAllele": "G", | 480 "wildtypeAllele": "G", |
366 "mismatch": false | 481 "mismatch": false, |
482 "warnings": [] | |
367 }, | 483 }, |
368 { | 484 { |
369 "gene": "CFTR", | 485 "gene": "CFTR", |
370 "chromosome": "chr7", | 486 "chromosome": "chr7", |
371 "position": 117587806, | 487 "position": 117587806, |
374 "alleles": [ | 490 "alleles": [ |
375 "G551D" | 491 "G551D" |
376 ], | 492 ], |
377 "phased": false, | 493 "phased": false, |
378 "wildtypeAllele": "G", | 494 "wildtypeAllele": "G", |
379 "mismatch": false | 495 "mismatch": false, |
496 "warnings": [] | |
380 }, | 497 }, |
381 { | 498 { |
382 "gene": "CFTR", | 499 "gene": "CFTR", |
383 "chromosome": "chr7", | 500 "chromosome": "chr7", |
384 "position": 117590409, | 501 "position": 117590409, |
387 "alleles": [ | 504 "alleles": [ |
388 "D579G" | 505 "D579G" |
389 ], | 506 ], |
390 "phased": false, | 507 "phased": false, |
391 "wildtypeAllele": "A", | 508 "wildtypeAllele": "A", |
392 "mismatch": false | 509 "mismatch": false, |
510 "warnings": [] | |
393 }, | 511 }, |
394 { | 512 { |
395 "gene": "CFTR", | 513 "gene": "CFTR", |
396 "chromosome": "chr7", | 514 "chromosome": "chr7", |
397 "position": 117594930, | 515 "position": 117594930, |
400 "alleles": [ | 518 "alleles": [ |
401 "E831X" | 519 "E831X" |
402 ], | 520 ], |
403 "phased": false, | 521 "phased": false, |
404 "wildtypeAllele": "G", | 522 "wildtypeAllele": "G", |
405 "mismatch": false | 523 "mismatch": false, |
524 "warnings": [] | |
406 }, | 525 }, |
407 { | 526 { |
408 "gene": "CFTR", | 527 "gene": "CFTR", |
409 "chromosome": "chr7", | 528 "chromosome": "chr7", |
410 "position": 117602868, | 529 "position": 117602868, |
413 "alleles": [ | 532 "alleles": [ |
414 "2789+5G-\u003eA" | 533 "2789+5G-\u003eA" |
415 ], | 534 ], |
416 "phased": false, | 535 "phased": false, |
417 "wildtypeAllele": "G", | 536 "wildtypeAllele": "G", |
418 "mismatch": false | 537 "mismatch": false, |
538 "warnings": [] | |
419 }, | 539 }, |
420 { | 540 { |
421 "gene": "CFTR", | 541 "gene": "CFTR", |
422 "chromosome": "chr7", | 542 "chromosome": "chr7", |
423 "position": 117603708, | 543 "position": 117603708, |
426 "alleles": [ | 546 "alleles": [ |
427 "S945L" | 547 "S945L" |
428 ], | 548 ], |
429 "phased": false, | 549 "phased": false, |
430 "wildtypeAllele": "C", | 550 "wildtypeAllele": "C", |
431 "mismatch": false | 551 "mismatch": false, |
552 "warnings": [] | |
432 }, | 553 }, |
433 { | 554 { |
434 "gene": "CFTR", | 555 "gene": "CFTR", |
435 "chromosome": "chr7", | 556 "chromosome": "chr7", |
436 "position": 117606695, | 557 "position": 117606695, |
439 "alleles": [ | 560 "alleles": [ |
440 "S977F" | 561 "S977F" |
441 ], | 562 ], |
442 "phased": false, | 563 "phased": false, |
443 "wildtypeAllele": "C", | 564 "wildtypeAllele": "C", |
444 "mismatch": false | 565 "mismatch": false, |
566 "warnings": [] | |
445 }, | 567 }, |
446 { | 568 { |
447 "gene": "CFTR", | 569 "gene": "CFTR", |
448 "chromosome": "chr7", | 570 "chromosome": "chr7", |
449 "position": 117611555, | 571 "position": 117611555, |
452 "alleles": [ | 574 "alleles": [ |
453 "3272-26A-\u003eG" | 575 "3272-26A-\u003eG" |
454 ], | 576 ], |
455 "phased": false, | 577 "phased": false, |
456 "wildtypeAllele": "A", | 578 "wildtypeAllele": "A", |
457 "mismatch": false | 579 "mismatch": false, |
580 "warnings": [] | |
458 }, | 581 }, |
459 { | 582 { |
460 "gene": "CFTR", | 583 "gene": "CFTR", |
461 "chromosome": "chr7", | 584 "chromosome": "chr7", |
462 "position": 117611595, | 585 "position": 117611595, |
465 "alleles": [ | 588 "alleles": [ |
466 "F1052V" | 589 "F1052V" |
467 ], | 590 ], |
468 "phased": false, | 591 "phased": false, |
469 "wildtypeAllele": "T", | 592 "wildtypeAllele": "T", |
470 "mismatch": false | 593 "mismatch": false, |
594 "warnings": [] | |
471 }, | 595 }, |
472 { | 596 { |
473 "gene": "CFTR", | 597 "gene": "CFTR", |
474 "chromosome": "chr7", | 598 "chromosome": "chr7", |
475 "position": 117611620, | 599 "position": 117611620, |
478 "alleles": [ | 602 "alleles": [ |
479 "K1060T" | 603 "K1060T" |
480 ], | 604 ], |
481 "phased": false, | 605 "phased": false, |
482 "wildtypeAllele": "A", | 606 "wildtypeAllele": "A", |
483 "mismatch": false | 607 "mismatch": false, |
608 "warnings": [] | |
484 }, | 609 }, |
485 { | 610 { |
486 "gene": "CFTR", | 611 "gene": "CFTR", |
487 "chromosome": "chr7", | 612 "chromosome": "chr7", |
488 "position": 117611640, | 613 "position": 117611640, |
491 "alleles": [ | 616 "alleles": [ |
492 "A1067T" | 617 "A1067T" |
493 ], | 618 ], |
494 "phased": false, | 619 "phased": false, |
495 "wildtypeAllele": "G", | 620 "wildtypeAllele": "G", |
496 "mismatch": false | 621 "mismatch": false, |
622 "warnings": [] | |
497 }, | 623 }, |
498 { | 624 { |
499 "gene": "CFTR", | 625 "gene": "CFTR", |
500 "chromosome": "chr7", | 626 "chromosome": "chr7", |
501 "position": 117611646, | 627 "position": 117611646, |
504 "alleles": [ | 630 "alleles": [ |
505 "G1069R" | 631 "G1069R" |
506 ], | 632 ], |
507 "phased": false, | 633 "phased": false, |
508 "wildtypeAllele": "G", | 634 "wildtypeAllele": "G", |
509 "mismatch": false | 635 "mismatch": false, |
636 "warnings": [] | |
510 }, | 637 }, |
511 { | 638 { |
512 "gene": "CFTR", | 639 "gene": "CFTR", |
513 "chromosome": "chr7", | 640 "chromosome": "chr7", |
514 "position": 117611649, | 641 "position": 117611649, |
517 "alleles": [ | 644 "alleles": [ |
518 "R1070W" | 645 "R1070W" |
519 ], | 646 ], |
520 "phased": false, | 647 "phased": false, |
521 "wildtypeAllele": "C", | 648 "wildtypeAllele": "C", |
522 "mismatch": false | 649 "mismatch": false, |
650 "warnings": [] | |
523 }, | 651 }, |
524 { | 652 { |
525 "gene": "CFTR", | 653 "gene": "CFTR", |
526 "chromosome": "chr7", | 654 "chromosome": "chr7", |
527 "position": 117611650, | 655 "position": 117611650, |
530 "alleles": [ | 658 "alleles": [ |
531 "R1070Q" | 659 "R1070Q" |
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533 "phased": false, | 661 "phased": false, |
534 "wildtypeAllele": "G", | 662 "wildtypeAllele": "G", |
535 "mismatch": false | 663 "mismatch": false, |
664 "warnings": [] | |
536 }, | 665 }, |
537 { | 666 { |
538 "gene": "CFTR", | 667 "gene": "CFTR", |
539 "chromosome": "chr7", | 668 "chromosome": "chr7", |
540 "position": 117611663, | 669 "position": 117611663, |
543 "alleles": [ | 672 "alleles": [ |
544 "F1074L" | 673 "F1074L" |
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546 "phased": false, | 675 "phased": false, |
547 "wildtypeAllele": "T", | 676 "wildtypeAllele": "T", |
548 "mismatch": false | 677 "mismatch": false, |
678 "warnings": [] | |
549 }, | 679 }, |
550 { | 680 { |
551 "gene": "CFTR", | 681 "gene": "CFTR", |
552 "chromosome": "chr7", | 682 "chromosome": "chr7", |
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556 "alleles": [ | 686 "alleles": [ |
557 "D1152H" | 687 "D1152H" |
558 ], | 688 ], |
559 "phased": false, | 689 "phased": false, |
560 "wildtypeAllele": "G", | 690 "wildtypeAllele": "G", |
561 "mismatch": false | 691 "mismatch": false, |
692 "warnings": [] | |
562 }, | 693 }, |
563 { | 694 { |
564 "gene": "CFTR", | 695 "gene": "CFTR", |
565 "chromosome": "chr7", | 696 "chromosome": "chr7", |
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569 "alleles": [ | 700 "alleles": [ |
570 "3849+10kbC-\u003eT" | 701 "3849+10kbC-\u003eT" |
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572 "phased": false, | 703 "phased": false, |
573 "wildtypeAllele": "C", | 704 "wildtypeAllele": "C", |
574 "mismatch": false | 705 "mismatch": false, |
706 "warnings": [] | |
575 }, | 707 }, |
576 { | 708 { |
577 "gene": "CFTR", | 709 "gene": "CFTR", |
578 "chromosome": "chr7", | 710 "chromosome": "chr7", |
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582 "alleles": [ | 714 "alleles": [ |
583 "G1244E" | 715 "G1244E" |
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585 "phased": false, | 717 "phased": false, |
586 "wildtypeAllele": "G", | 718 "wildtypeAllele": "G", |
587 "mismatch": false | 719 "mismatch": false, |
720 "warnings": [] | |
588 }, | 721 }, |
589 { | 722 { |
590 "gene": "CFTR", | 723 "gene": "CFTR", |
591 "chromosome": "chr7", | 724 "chromosome": "chr7", |
592 "position": 117642472, | 725 "position": 117642472, |
595 "alleles": [ | 728 "alleles": [ |
596 "S1251N" | 729 "S1251N" |
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598 "phased": false, | 731 "phased": false, |
599 "wildtypeAllele": "G", | 732 "wildtypeAllele": "G", |
600 "mismatch": false | 733 "mismatch": false, |
734 "warnings": [] | |
601 }, | 735 }, |
602 { | 736 { |
603 "gene": "CFTR", | 737 "gene": "CFTR", |
604 "chromosome": "chr7", | 738 "chromosome": "chr7", |
605 "position": 117642483, | 739 "position": 117642483, |
608 "alleles": [ | 742 "alleles": [ |
609 "S1255P" | 743 "S1255P" |
610 ], | 744 ], |
611 "phased": false, | 745 "phased": false, |
612 "wildtypeAllele": "T", | 746 "wildtypeAllele": "T", |
613 "mismatch": false | 747 "mismatch": false, |
748 "warnings": [] | |
614 }, | 749 }, |
615 { | 750 { |
616 "gene": "CFTR", | 751 "gene": "CFTR", |
617 "chromosome": "chr7", | 752 "chromosome": "chr7", |
618 "position": 117642528, | 753 "position": 117642528, |
621 "alleles": [ | 756 "alleles": [ |
622 "D1270N" | 757 "D1270N" |
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624 "phased": false, | 759 "phased": false, |
625 "wildtypeAllele": "G", | 760 "wildtypeAllele": "G", |
626 "mismatch": false | 761 "mismatch": false, |
762 "warnings": [] | |
627 }, | 763 }, |
628 { | 764 { |
629 "gene": "CFTR", | 765 "gene": "CFTR", |
630 "chromosome": "chr7", | 766 "chromosome": "chr7", |
631 "position": 117664770, | 767 "position": 117664770, |
634 "alleles": [ | 770 "alleles": [ |
635 "G1349D" | 771 "G1349D" |
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637 "phased": false, | 773 "phased": false, |
638 "wildtypeAllele": "G", | 774 "wildtypeAllele": "G", |
639 "mismatch": false | 775 "mismatch": false, |
776 "warnings": [] | |
640 } | 777 } |
641 ], | 778 ], |
642 "variantsOfInterest": [], | 779 "variantsOfInterest": [], |
643 "highlightedVariants": [] | 780 "highlightedVariants": [] |
644 }, | 781 }, |
663 "name": "*1", | 800 "name": "*1", |
664 "function": "Normal function", | 801 "function": "Normal function", |
665 "reference": true | 802 "reference": true |
666 }, | 803 }, |
667 "gene": "CYP2B6", | 804 "gene": "CYP2B6", |
668 "phenotype": "Normal Metabolizer", | 805 "phenotypes": [ |
806 "Normal Metabolizer" | |
807 ], | |
669 "variant": null, | 808 "variant": null, |
670 "lookupKey": "Normal Metabolizer", | 809 "lookupKey": [ |
810 "Normal Metabolizer" | |
811 ], | |
671 "label": "*1/*1" | 812 "label": "*1/*1" |
672 } | 813 } |
673 ], | 814 ], |
674 "diplotypes": [ | 815 "diplotypes": [ |
675 { | 816 { |
684 "name": "*1", | 825 "name": "*1", |
685 "function": "Normal function", | 826 "function": "Normal function", |
686 "reference": true | 827 "reference": true |
687 }, | 828 }, |
688 "gene": "CYP2B6", | 829 "gene": "CYP2B6", |
689 "phenotype": "Normal Metabolizer", | 830 "phenotypes": [ |
831 "Normal Metabolizer" | |
832 ], | |
690 "variant": null, | 833 "variant": null, |
691 "lookupKey": "Normal Metabolizer", | 834 "lookupKey": [ |
835 "Normal Metabolizer" | |
836 ], | |
692 "label": "*1/*1" | 837 "label": "*1/*1" |
693 } | 838 } |
694 ], | 839 ], |
695 "variants": [ | 840 "variants": [ |
696 { | 841 { |
705 "*35", | 850 "*35", |
706 "*36" | 851 "*36" |
707 ], | 852 ], |
708 "phased": false, | 853 "phased": false, |
709 "wildtypeAllele": "T", | 854 "wildtypeAllele": "T", |
710 "mismatch": false | 855 "mismatch": false, |
856 "warnings": [] | |
711 }, | 857 }, |
712 { | 858 { |
713 "gene": "CYP2B6", | 859 "gene": "CYP2B6", |
714 "chromosome": "chr19", | 860 "chromosome": "chr19", |
715 "position": 40991367, | 861 "position": 40991367, |
718 "alleles": [ | 864 "alleles": [ |
719 "*10" | 865 "*10" |
720 ], | 866 ], |
721 "phased": false, | 867 "phased": false, |
722 "wildtypeAllele": "A", | 868 "wildtypeAllele": "A", |
723 "mismatch": false | 869 "mismatch": false, |
870 "warnings": [] | |
724 }, | 871 }, |
725 { | 872 { |
726 "gene": "CYP2B6", | 873 "gene": "CYP2B6", |
727 "chromosome": "chr19", | 874 "chromosome": "chr19", |
728 "position": 40991369, | 875 "position": 40991369, |
732 "*2", | 879 "*2", |
733 "*10" | 880 "*10" |
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735 "phased": false, | 882 "phased": false, |
736 "wildtypeAllele": "C", | 883 "wildtypeAllele": "C", |
737 "mismatch": false | 884 "mismatch": false, |
885 "warnings": [] | |
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739 { | 887 { |
740 "gene": "CYP2B6", | 888 "gene": "CYP2B6", |
741 "chromosome": "chr19", | 889 "chromosome": "chr19", |
742 "position": 40991381, | 890 "position": 40991381, |
745 "alleles": [ | 893 "alleles": [ |
746 "*17" | 894 "*17" |
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748 "phased": false, | 896 "phased": false, |
749 "wildtypeAllele": "A", | 897 "wildtypeAllele": "A", |
750 "mismatch": false | 898 "mismatch": false, |
899 "warnings": [] | |
751 }, | 900 }, |
752 { | 901 { |
753 "gene": "CYP2B6", | 902 "gene": "CYP2B6", |
754 "chromosome": "chr19", | 903 "chromosome": "chr19", |
755 "position": 40991388, | 904 "position": 40991388, |
758 "alleles": [ | 907 "alleles": [ |
759 "*17" | 908 "*17" |
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761 "phased": false, | 910 "phased": false, |
762 "wildtypeAllele": "A", | 911 "wildtypeAllele": "A", |
763 "mismatch": false | 912 "mismatch": false, |
913 "warnings": [] | |
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765 { | 915 { |
766 "gene": "CYP2B6", | 916 "gene": "CYP2B6", |
767 "chromosome": "chr19", | 917 "chromosome": "chr19", |
768 "position": 40991390, | 918 "position": 40991390, |
771 "alleles": [ | 921 "alleles": [ |
772 "*17" | 922 "*17" |
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774 "phased": false, | 924 "phased": false, |
775 "wildtypeAllele": "C", | 925 "wildtypeAllele": "C", |
776 "mismatch": false | 926 "mismatch": false, |
927 "warnings": [] | |
777 }, | 928 }, |
778 { | 929 { |
779 "gene": "CYP2B6", | 930 "gene": "CYP2B6", |
780 "chromosome": "chr19", | 931 "chromosome": "chr19", |
781 "position": 40991391, | 932 "position": 40991391, |
784 "alleles": [ | 935 "alleles": [ |
785 "*17" | 936 "*17" |
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787 "phased": false, | 938 "phased": false, |
788 "wildtypeAllele": "G", | 939 "wildtypeAllele": "G", |
789 "mismatch": false | 940 "mismatch": false, |
941 "warnings": [] | |
790 }, | 942 }, |
791 { | 943 { |
792 "gene": "CYP2B6", | 944 "gene": "CYP2B6", |
793 "chromosome": "chr19", | 945 "chromosome": "chr19", |
794 "position": 40991441, | 946 "position": 40991441, |
797 "alleles": [ | 949 "alleles": [ |
798 "*11" | 950 "*11" |
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800 "phased": false, | 952 "phased": false, |
801 "wildtypeAllele": "A", | 953 "wildtypeAllele": "A", |
802 "mismatch": false | 954 "mismatch": false, |
955 "warnings": [] | |
803 }, | 956 }, |
804 { | 957 { |
805 "gene": "CYP2B6", | 958 "gene": "CYP2B6", |
806 "chromosome": "chr19", | 959 "chromosome": "chr19", |
807 "position": 41004015, | 960 "position": 41004015, |
810 "alleles": [ | 963 "alleles": [ |
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812 ], | 965 ], |
813 "phased": false, | 966 "phased": false, |
814 "wildtypeAllele": "T", | 967 "wildtypeAllele": "T", |
815 "mismatch": false | 968 "mismatch": false, |
969 "warnings": [] | |
816 }, | 970 }, |
817 { | 971 { |
818 "gene": "CYP2B6", | 972 "gene": "CYP2B6", |
819 "chromosome": "chr19", | 973 "chromosome": "chr19", |
820 "position": 41004125, | 974 "position": 41004125, |
823 "alleles": [ | 977 "alleles": [ |
824 "*12" | 978 "*12" |
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826 "phased": false, | 980 "phased": false, |
827 "wildtypeAllele": "G", | 981 "wildtypeAllele": "G", |
828 "mismatch": false | 982 "mismatch": false, |
983 "warnings": [] | |
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830 { | 985 { |
831 "gene": "CYP2B6", | 986 "gene": "CYP2B6", |
832 "chromosome": "chr19", | 987 "chromosome": "chr19", |
833 "position": 41004158, | 988 "position": 41004158, |
836 "alleles": [ | 991 "alleles": [ |
837 "*35" | 992 "*35" |
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840 "wildtypeAllele": "G", | 995 "wildtypeAllele": "G", |
841 "mismatch": false | 996 "mismatch": false, |
997 "warnings": [] | |
842 }, | 998 }, |
843 { | 999 { |
844 "gene": "CYP2B6", | 1000 "gene": "CYP2B6", |
845 "chromosome": "chr19", | 1001 "chromosome": "chr19", |
846 "position": 41004303, | 1002 "position": 41004303, |
849 "alleles": [ | 1005 "alleles": [ |
850 "*35" | 1006 "*35" |
851 ], | 1007 ], |
852 "phased": false, | 1008 "phased": false, |
853 "wildtypeAllele": "T", | 1009 "wildtypeAllele": "T", |
854 "mismatch": false | 1010 "mismatch": false, |
1011 "warnings": [] | |
855 }, | 1012 }, |
856 { | 1013 { |
857 "gene": "CYP2B6", | 1014 "gene": "CYP2B6", |
858 "chromosome": "chr19", | 1015 "chromosome": "chr19", |
859 "position": 41004377, | 1016 "position": 41004377, |
863 "*8", | 1020 "*8", |
864 "*13" | 1021 "*13" |
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866 "phased": false, | 1023 "phased": false, |
867 "wildtypeAllele": "A", | 1024 "wildtypeAllele": "A", |
868 "mismatch": false | 1025 "mismatch": false, |
1026 "warnings": [] | |
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870 { | 1028 { |
871 "gene": "CYP2B6", | 1029 "gene": "CYP2B6", |
872 "chromosome": "chr19", | 1030 "chromosome": "chr19", |
873 "position": 41004381, | 1031 "position": 41004381, |
876 "alleles": [ | 1034 "alleles": [ |
877 "*14" | 1035 "*14" |
878 ], | 1036 ], |
879 "phased": false, | 1037 "phased": false, |
880 "wildtypeAllele": "G", | 1038 "wildtypeAllele": "G", |
881 "mismatch": false | 1039 "mismatch": false, |
1040 "warnings": [] | |
882 }, | 1041 }, |
883 { | 1042 { |
884 "gene": "CYP2B6", | 1043 "gene": "CYP2B6", |
885 "chromosome": "chr19", | 1044 "chromosome": "chr19", |
886 "position": 41004406, | 1045 "position": 41004406, |
889 "alleles": [ | 1048 "alleles": [ |
890 "*35" | 1049 "*35" |
891 ], | 1050 ], |
892 "phased": false, | 1051 "phased": false, |
893 "wildtypeAllele": "G", | 1052 "wildtypeAllele": "G", |
894 "mismatch": false | 1053 "mismatch": false, |
1054 "warnings": [] | |
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896 { | 1056 { |
897 "gene": "CYP2B6", | 1057 "gene": "CYP2B6", |
898 "chromosome": "chr19", | 1058 "chromosome": "chr19", |
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902 "alleles": [ | 1062 "alleles": [ |
903 "*26" | 1063 "*26" |
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905 "phased": false, | 1065 "phased": false, |
906 "wildtypeAllele": "C", | 1066 "wildtypeAllele": "C", |
907 "mismatch": false | 1067 "mismatch": false, |
1068 "warnings": [] | |
908 }, | 1069 }, |
909 { | 1070 { |
910 "gene": "CYP2B6", | 1071 "gene": "CYP2B6", |
911 "chromosome": "chr19", | 1072 "chromosome": "chr19", |
912 "position": 41006923, | 1073 "position": 41006923, |
915 "alleles": [ | 1076 "alleles": [ |
916 "*20" | 1077 "*20" |
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918 "phased": false, | 1079 "phased": false, |
919 "wildtypeAllele": "C", | 1080 "wildtypeAllele": "C", |
920 "mismatch": false | 1081 "mismatch": false, |
1082 "warnings": [] | |
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922 { | 1084 { |
923 "gene": "CYP2B6", | 1085 "gene": "CYP2B6", |
924 "chromosome": "chr19", | 1086 "chromosome": "chr19", |
925 "position": 41006936, | 1087 "position": 41006936, |
938 "*37", | 1100 "*37", |
939 "*38" | 1101 "*38" |
940 ], | 1102 ], |
941 "phased": false, | 1103 "phased": false, |
942 "wildtypeAllele": "G", | 1104 "wildtypeAllele": "G", |
943 "mismatch": false | 1105 "mismatch": false, |
1106 "warnings": [] | |
944 }, | 1107 }, |
945 { | 1108 { |
946 "gene": "CYP2B6", | 1109 "gene": "CYP2B6", |
947 "chromosome": "chr19", | 1110 "chromosome": "chr19", |
948 "position": 41006968, | 1111 "position": 41006968, |
951 "alleles": [ | 1114 "alleles": [ |
952 "*37" | 1115 "*37" |
953 ], | 1116 ], |
954 "phased": false, | 1117 "phased": false, |
955 "wildtypeAllele": "T", | 1118 "wildtypeAllele": "T", |
956 "mismatch": false | 1119 "mismatch": false, |
1120 "warnings": [] | |
957 }, | 1121 }, |
958 { | 1122 { |
959 "gene": "CYP2B6", | 1123 "gene": "CYP2B6", |
960 "chromosome": "chr19", | 1124 "chromosome": "chr19", |
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965 "*27", | 1129 "*27", |
966 "*35" | 1130 "*35" |
967 ], | 1131 ], |
968 "phased": false, | 1132 "phased": false, |
969 "wildtypeAllele": "T", | 1133 "wildtypeAllele": "T", |
970 "mismatch": false | 1134 "mismatch": false, |
1135 "warnings": [] | |
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972 { | 1137 { |
973 "gene": "CYP2B6", | 1138 "gene": "CYP2B6", |
974 "chromosome": "chr19", | 1139 "chromosome": "chr19", |
975 "position": 41009350, | 1140 "position": 41009350, |
978 "alleles": [ | 1143 "alleles": [ |
979 "*3" | 1144 "*3" |
980 ], | 1145 ], |
981 "phased": false, | 1146 "phased": false, |
982 "wildtypeAllele": "C", | 1147 "wildtypeAllele": "C", |
983 "mismatch": false | 1148 "mismatch": false, |
1149 "warnings": [] | |
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985 { | 1151 { |
986 "gene": "CYP2B6", | 1152 "gene": "CYP2B6", |
987 "chromosome": "chr19", | 1153 "chromosome": "chr19", |
988 "position": 41009358, | 1154 "position": 41009358, |
1002 "*37", | 1168 "*37", |
1003 "*38" | 1169 "*38" |
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1005 "phased": false, | 1171 "phased": false, |
1006 "wildtypeAllele": "A", | 1172 "wildtypeAllele": "A", |
1007 "mismatch": false | 1173 "mismatch": false, |
1174 "warnings": [] | |
1008 }, | 1175 }, |
1009 { | 1176 { |
1010 "gene": "CYP2B6", | 1177 "gene": "CYP2B6", |
1011 "chromosome": "chr19", | 1178 "chromosome": "chr19", |
1012 "position": 41010006, | 1179 "position": 41010006, |
1015 "alleles": [ | 1182 "alleles": [ |
1016 "*35" | 1183 "*35" |
1017 ], | 1184 ], |
1018 "phased": false, | 1185 "phased": false, |
1019 "wildtypeAllele": "G", | 1186 "wildtypeAllele": "G", |
1020 "mismatch": false | 1187 "mismatch": false, |
1188 "warnings": [] | |
1021 }, | 1189 }, |
1022 { | 1190 { |
1023 "gene": "CYP2B6", | 1191 "gene": "CYP2B6", |
1024 "chromosome": "chr19", | 1192 "chromosome": "chr19", |
1025 "position": 41010088, | 1193 "position": 41010088, |
1028 "alleles": [ | 1196 "alleles": [ |
1029 "*28" | 1197 "*28" |
1030 ], | 1198 ], |
1031 "phased": false, | 1199 "phased": false, |
1032 "wildtypeAllele": "C", | 1200 "wildtypeAllele": "C", |
1033 "mismatch": false | 1201 "mismatch": false, |
1202 "warnings": [] | |
1034 }, | 1203 }, |
1035 { | 1204 { |
1036 "gene": "CYP2B6", | 1205 "gene": "CYP2B6", |
1037 "chromosome": "chr19", | 1206 "chromosome": "chr19", |
1038 "position": 41010108, | 1207 "position": 41010108, |
1041 "alleles": [ | 1210 "alleles": [ |
1042 "*31" | 1211 "*31" |
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1044 "phased": false, | 1213 "phased": false, |
1045 "wildtypeAllele": "C", | 1214 "wildtypeAllele": "C", |
1046 "mismatch": false | 1215 "mismatch": false, |
1216 "warnings": [] | |
1047 }, | 1217 }, |
1048 { | 1218 { |
1049 "gene": "CYP2B6", | 1219 "gene": "CYP2B6", |
1050 "chromosome": "chr19", | 1220 "chromosome": "chr19", |
1051 "position": 41012316, | 1221 "position": 41012316, |
1054 "alleles": [ | 1224 "alleles": [ |
1055 "*18" | 1225 "*18" |
1056 ], | 1226 ], |
1057 "phased": false, | 1227 "phased": false, |
1058 "wildtypeAllele": "T", | 1228 "wildtypeAllele": "T", |
1059 "mismatch": false | 1229 "mismatch": false, |
1230 "warnings": [] | |
1060 }, | 1231 }, |
1061 { | 1232 { |
1062 "gene": "CYP2B6", | 1233 "gene": "CYP2B6", |
1063 "chromosome": "chr19", | 1234 "chromosome": "chr19", |
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1067 "alleles": [ | 1238 "alleles": [ |
1068 "*19" | 1239 "*19" |
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1070 "phased": false, | 1241 "phased": false, |
1071 "wildtypeAllele": "C", | 1242 "wildtypeAllele": "C", |
1072 "mismatch": false | 1243 "mismatch": false, |
1244 "warnings": [] | |
1073 }, | 1245 }, |
1074 { | 1246 { |
1075 "gene": "CYP2B6", | 1247 "gene": "CYP2B6", |
1076 "chromosome": "chr19", | 1248 "chromosome": "chr19", |
1077 "position": 41012465, | 1249 "position": 41012465, |
1080 "alleles": [ | 1252 "alleles": [ |
1081 "*28" | 1253 "*28" |
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1083 "phased": false, | 1255 "phased": false, |
1084 "wildtypeAllele": "C", | 1256 "wildtypeAllele": "C", |
1085 "mismatch": false | 1257 "mismatch": false, |
1258 "warnings": [] | |
1086 }, | 1259 }, |
1087 { | 1260 { |
1088 "gene": "CYP2B6", | 1261 "gene": "CYP2B6", |
1089 "chromosome": "chr19", | 1262 "chromosome": "chr19", |
1090 "position": 41012693, | 1263 "position": 41012693, |
1093 "alleles": [ | 1266 "alleles": [ |
1094 "*15" | 1267 "*15" |
1095 ], | 1268 ], |
1096 "phased": false, | 1269 "phased": false, |
1097 "wildtypeAllele": "T", | 1270 "wildtypeAllele": "T", |
1098 "mismatch": false | 1271 "mismatch": false, |
1272 "warnings": [] | |
1099 }, | 1273 }, |
1100 { | 1274 { |
1101 "gene": "CYP2B6", | 1275 "gene": "CYP2B6", |
1102 "chromosome": "chr19", | 1276 "chromosome": "chr19", |
1103 "position": 41012740, | 1277 "position": 41012740, |
1106 "alleles": [ | 1280 "alleles": [ |
1107 "*32" | 1281 "*32" |
1108 ], | 1282 ], |
1109 "phased": false, | 1283 "phased": false, |
1110 "wildtypeAllele": "G", | 1284 "wildtypeAllele": "G", |
1111 "mismatch": false | 1285 "mismatch": false, |
1286 "warnings": [] | |
1112 }, | 1287 }, |
1113 { | 1288 { |
1114 "gene": "CYP2B6", | 1289 "gene": "CYP2B6", |
1115 "chromosome": "chr19", | 1290 "chromosome": "chr19", |
1116 "position": 41012803, | 1291 "position": 41012803, |
1119 "alleles": [ | 1294 "alleles": [ |
1120 "*21" | 1295 "*21" |
1121 ], | 1296 ], |
1122 "phased": false, | 1297 "phased": false, |
1123 "wildtypeAllele": "C", | 1298 "wildtypeAllele": "C", |
1124 "mismatch": false | 1299 "mismatch": false, |
1300 "warnings": [] | |
1125 }, | 1301 }, |
1126 { | 1302 { |
1127 "gene": "CYP2B6", | 1303 "gene": "CYP2B6", |
1128 "chromosome": "chr19", | 1304 "chromosome": "chr19", |
1129 "position": 41016726, | 1305 "position": 41016726, |
1132 "alleles": [ | 1308 "alleles": [ |
1133 "*23" | 1309 "*23" |
1134 ], | 1310 ], |
1135 "phased": false, | 1311 "phased": false, |
1136 "wildtypeAllele": "A", | 1312 "wildtypeAllele": "A", |
1137 "mismatch": false | 1313 "mismatch": false, |
1314 "warnings": [] | |
1138 }, | 1315 }, |
1139 { | 1316 { |
1140 "gene": "CYP2B6", | 1317 "gene": "CYP2B6", |
1141 "chromosome": "chr19", | 1318 "chromosome": "chr19", |
1142 "position": 41016778, | 1319 "position": 41016778, |
1145 "alleles": [ | 1322 "alleles": [ |
1146 "*24" | 1323 "*24" |
1147 ], | 1324 ], |
1148 "phased": false, | 1325 "phased": false, |
1149 "wildtypeAllele": "G", | 1326 "wildtypeAllele": "G", |
1150 "mismatch": false | 1327 "mismatch": false, |
1328 "warnings": [] | |
1151 }, | 1329 }, |
1152 { | 1330 { |
1153 "gene": "CYP2B6", | 1331 "gene": "CYP2B6", |
1154 "chromosome": "chr19", | 1332 "chromosome": "chr19", |
1155 "position": 41016805, | 1333 "position": 41016805, |
1158 "alleles": [ | 1336 "alleles": [ |
1159 "*25" | 1337 "*25" |
1160 ], | 1338 ], |
1161 "phased": false, | 1339 "phased": false, |
1162 "wildtypeAllele": "A", | 1340 "wildtypeAllele": "A", |
1163 "mismatch": false | 1341 "mismatch": false, |
1342 "warnings": [] | |
1164 }, | 1343 }, |
1165 { | 1344 { |
1166 "gene": "CYP2B6", | 1345 "gene": "CYP2B6", |
1167 "chromosome": "chr19", | 1346 "chromosome": "chr19", |
1168 "position": 41016810, | 1347 "position": 41016810, |
1174 "*33", | 1353 "*33", |
1175 "*34" | 1354 "*34" |
1176 ], | 1355 ], |
1177 "phased": false, | 1356 "phased": false, |
1178 "wildtypeAllele": "C", | 1357 "wildtypeAllele": "C", |
1179 "mismatch": false | 1358 "mismatch": false, |
1359 "warnings": [] | |
1180 } | 1360 } |
1181 ], | 1361 ], |
1182 "variantsOfInterest": [], | 1362 "variantsOfInterest": [], |
1183 "highlightedVariants": [] | 1363 "highlightedVariants": [] |
1184 }, | 1364 }, |
1203 "name": "*38", | 1383 "name": "*38", |
1204 "function": "Normal function", | 1384 "function": "Normal function", |
1205 "reference": true | 1385 "reference": true |
1206 }, | 1386 }, |
1207 "gene": "CYP2C19", | 1387 "gene": "CYP2C19", |
1208 "phenotype": "Normal Metabolizer", | 1388 "phenotypes": [ |
1389 "Normal Metabolizer" | |
1390 ], | |
1209 "variant": null, | 1391 "variant": null, |
1210 "lookupKey": "Normal Metabolizer", | 1392 "lookupKey": [ |
1393 "Normal Metabolizer" | |
1394 ], | |
1211 "label": "*38/*38" | 1395 "label": "*38/*38" |
1212 } | 1396 } |
1213 ], | 1397 ], |
1214 "diplotypes": [ | 1398 "diplotypes": [ |
1215 { | 1399 { |
1224 "name": "*38", | 1408 "name": "*38", |
1225 "function": "Normal function", | 1409 "function": "Normal function", |
1226 "reference": true | 1410 "reference": true |
1227 }, | 1411 }, |
1228 "gene": "CYP2C19", | 1412 "gene": "CYP2C19", |
1229 "phenotype": "Normal Metabolizer", | 1413 "phenotypes": [ |
1414 "Normal Metabolizer" | |
1415 ], | |
1230 "variant": null, | 1416 "variant": null, |
1231 "lookupKey": "Normal Metabolizer", | 1417 "lookupKey": [ |
1418 "Normal Metabolizer" | |
1419 ], | |
1232 "label": "*38/*38" | 1420 "label": "*38/*38" |
1233 } | 1421 } |
1234 ], | 1422 ], |
1235 "variants": [ | 1423 "variants": [ |
1236 { | 1424 { |
1243 "*4", | 1431 "*4", |
1244 "*17" | 1432 "*17" |
1245 ], | 1433 ], |
1246 "phased": false, | 1434 "phased": false, |
1247 "wildtypeAllele": "C", | 1435 "wildtypeAllele": "C", |
1248 "mismatch": false | 1436 "mismatch": false, |
1437 "warnings": [] | |
1249 }, | 1438 }, |
1250 { | 1439 { |
1251 "gene": "CYP2C19", | 1440 "gene": "CYP2C19", |
1252 "chromosome": "chr10", | 1441 "chromosome": "chr10", |
1253 "position": 94762706, | 1442 "position": 94762706, |
1256 "alleles": [ | 1445 "alleles": [ |
1257 "*4" | 1446 "*4" |
1258 ], | 1447 ], |
1259 "phased": false, | 1448 "phased": false, |
1260 "wildtypeAllele": "A", | 1449 "wildtypeAllele": "A", |
1261 "mismatch": false | 1450 "mismatch": false, |
1451 "warnings": [] | |
1262 }, | 1452 }, |
1263 { | 1453 { |
1264 "gene": "CYP2C19", | 1454 "gene": "CYP2C19", |
1265 "chromosome": "chr10", | 1455 "chromosome": "chr10", |
1266 "position": 94762712, | 1456 "position": 94762712, |
1269 "alleles": [ | 1459 "alleles": [ |
1270 "*34" | 1460 "*34" |
1271 ], | 1461 ], |
1272 "phased": false, | 1462 "phased": false, |
1273 "wildtypeAllele": "C", | 1463 "wildtypeAllele": "C", |
1274 "mismatch": false | 1464 "mismatch": false, |
1465 "warnings": [] | |
1275 }, | 1466 }, |
1276 { | 1467 { |
1277 "gene": "CYP2C19", | 1468 "gene": "CYP2C19", |
1278 "chromosome": "chr10", | 1469 "chromosome": "chr10", |
1279 "position": 94762715, | 1470 "position": 94762715, |
1282 "alleles": [ | 1473 "alleles": [ |
1283 "*34" | 1474 "*34" |
1284 ], | 1475 ], |
1285 "phased": false, | 1476 "phased": false, |
1286 "wildtypeAllele": "T", | 1477 "wildtypeAllele": "T", |
1287 "mismatch": false | 1478 "mismatch": false, |
1479 "warnings": [] | |
1288 }, | 1480 }, |
1289 { | 1481 { |
1290 "gene": "CYP2C19", | 1482 "gene": "CYP2C19", |
1291 "chromosome": "chr10", | 1483 "chromosome": "chr10", |
1292 "position": 94762755, | 1484 "position": 94762755, |
1295 "alleles": [ | 1487 "alleles": [ |
1296 "*14" | 1488 "*14" |
1297 ], | 1489 ], |
1298 "phased": false, | 1490 "phased": false, |
1299 "wildtypeAllele": "T", | 1491 "wildtypeAllele": "T", |
1300 "mismatch": false | 1492 "mismatch": false, |
1493 "warnings": [] | |
1301 }, | 1494 }, |
1302 { | 1495 { |
1303 "gene": "CYP2C19", | 1496 "gene": "CYP2C19", |
1304 "chromosome": "chr10", | 1497 "chromosome": "chr10", |
1305 "position": 94762760, | 1498 "position": 94762760, |
1311 "*35", | 1504 "*35", |
1312 "*39" | 1505 "*39" |
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1314 "phased": false, | 1507 "phased": false, |
1315 "wildtypeAllele": "A", | 1508 "wildtypeAllele": "A", |
1316 "mismatch": false | 1509 "mismatch": false, |
1510 "warnings": [] | |
1317 }, | 1511 }, |
1318 { | 1512 { |
1319 "gene": "CYP2C19", | 1513 "gene": "CYP2C19", |
1320 "chromosome": "chr10", | 1514 "chromosome": "chr10", |
1321 "position": 94762788, | 1515 "position": 94762788, |
1324 "alleles": [ | 1518 "alleles": [ |
1325 "*29" | 1519 "*29" |
1326 ], | 1520 ], |
1327 "phased": false, | 1521 "phased": false, |
1328 "wildtypeAllele": "A", | 1522 "wildtypeAllele": "A", |
1329 "mismatch": false | 1523 "mismatch": false, |
1524 "warnings": [] | |
1330 }, | 1525 }, |
1331 { | 1526 { |
1332 "gene": "CYP2C19", | 1527 "gene": "CYP2C19", |
1333 "chromosome": "chr10", | 1528 "chromosome": "chr10", |
1334 "position": 94762856, | 1529 "position": 94762856, |
1337 "alleles": [ | 1532 "alleles": [ |
1338 "*19" | 1533 "*19" |
1339 ], | 1534 ], |
1340 "phased": false, | 1535 "phased": false, |
1341 "wildtypeAllele": "A", | 1536 "wildtypeAllele": "A", |
1342 "mismatch": false | 1537 "mismatch": false, |
1538 "warnings": [] | |
1343 }, | 1539 }, |
1344 { | 1540 { |
1345 "gene": "CYP2C19", | 1541 "gene": "CYP2C19", |
1346 "chromosome": "chr10", | 1542 "chromosome": "chr10", |
1347 "position": 94775106, | 1543 "position": 94775106, |
1350 "alleles": [ | 1546 "alleles": [ |
1351 "*30" | 1547 "*30" |
1352 ], | 1548 ], |
1353 "phased": false, | 1549 "phased": false, |
1354 "wildtypeAllele": "C", | 1550 "wildtypeAllele": "C", |
1355 "mismatch": false | 1551 "mismatch": false, |
1552 "warnings": [] | |
1356 }, | 1553 }, |
1357 { | 1554 { |
1358 "gene": "CYP2C19", | 1555 "gene": "CYP2C19", |
1359 "chromosome": "chr10", | 1556 "chromosome": "chr10", |
1360 "position": 94775121, | 1557 "position": 94775121, |
1363 "alleles": [ | 1560 "alleles": [ |
1364 "*31" | 1561 "*31" |
1365 ], | 1562 ], |
1366 "phased": false, | 1563 "phased": false, |
1367 "wildtypeAllele": "C", | 1564 "wildtypeAllele": "C", |
1368 "mismatch": false | 1565 "mismatch": false, |
1566 "warnings": [] | |
1369 }, | 1567 }, |
1370 { | 1568 { |
1371 "gene": "CYP2C19", | 1569 "gene": "CYP2C19", |
1372 "chromosome": "chr10", | 1570 "chromosome": "chr10", |
1373 "position": 94775160, | 1571 "position": 94775160, |
1376 "alleles": [ | 1574 "alleles": [ |
1377 "*23" | 1575 "*23" |
1378 ], | 1576 ], |
1379 "phased": false, | 1577 "phased": false, |
1380 "wildtypeAllele": "G", | 1578 "wildtypeAllele": "G", |
1381 "mismatch": false | 1579 "mismatch": false, |
1580 "warnings": [] | |
1382 }, | 1581 }, |
1383 { | 1582 { |
1384 "gene": "CYP2C19", | 1583 "gene": "CYP2C19", |
1385 "chromosome": "chr10", | 1584 "chromosome": "chr10", |
1386 "position": 94775185, | 1585 "position": 94775185, |
1389 "alleles": [ | 1588 "alleles": [ |
1390 "*32" | 1589 "*32" |
1391 ], | 1590 ], |
1392 "phased": false, | 1591 "phased": false, |
1393 "wildtypeAllele": "A", | 1592 "wildtypeAllele": "A", |
1394 "mismatch": false | 1593 "mismatch": false, |
1594 "warnings": [] | |
1395 }, | 1595 }, |
1396 { | 1596 { |
1397 "gene": "CYP2C19", | 1597 "gene": "CYP2C19", |
1398 "chromosome": "chr10", | 1598 "chromosome": "chr10", |
1399 "position": 94775367, | 1599 "position": 94775367, |
1403 "*2", | 1603 "*2", |
1404 "*35" | 1604 "*35" |
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1406 "phased": false, | 1606 "phased": false, |
1407 "wildtypeAllele": "A", | 1607 "wildtypeAllele": "A", |
1408 "mismatch": false | 1608 "mismatch": false, |
1609 "warnings": [] | |
1409 }, | 1610 }, |
1410 { | 1611 { |
1411 "gene": "CYP2C19", | 1612 "gene": "CYP2C19", |
1412 "chromosome": "chr10", | 1613 "chromosome": "chr10", |
1413 "position": 94775416, | 1614 "position": 94775416, |
1416 "alleles": [ | 1617 "alleles": [ |
1417 "*8" | 1618 "*8" |
1418 ], | 1619 ], |
1419 "phased": false, | 1620 "phased": false, |
1420 "wildtypeAllele": "T", | 1621 "wildtypeAllele": "T", |
1421 "mismatch": false | 1622 "mismatch": false, |
1623 "warnings": [] | |
1422 }, | 1624 }, |
1423 { | 1625 { |
1424 "gene": "CYP2C19", | 1626 "gene": "CYP2C19", |
1425 "chromosome": "chr10", | 1627 "chromosome": "chr10", |
1426 "position": 94775423, | 1628 "position": 94775423, |
1429 "alleles": [ | 1631 "alleles": [ |
1430 "*39" | 1632 "*39" |
1431 ], | 1633 ], |
1432 "phased": false, | 1634 "phased": false, |
1433 "wildtypeAllele": "A", | 1635 "wildtypeAllele": "A", |
1434 "mismatch": false | 1636 "mismatch": false, |
1637 "warnings": [] | |
1435 }, | 1638 }, |
1436 { | 1639 { |
1437 "gene": "CYP2C19", | 1640 "gene": "CYP2C19", |
1438 "chromosome": "chr10", | 1641 "chromosome": "chr10", |
1439 "position": 94775453, | 1642 "position": 94775453, |
1442 "alleles": [ | 1645 "alleles": [ |
1443 "*6" | 1646 "*6" |
1444 ], | 1647 ], |
1445 "phased": false, | 1648 "phased": false, |
1446 "wildtypeAllele": "G", | 1649 "wildtypeAllele": "G", |
1447 "mismatch": false | 1650 "mismatch": false, |
1651 "warnings": [] | |
1448 }, | 1652 }, |
1449 { | 1653 { |
1450 "gene": "CYP2C19", | 1654 "gene": "CYP2C19", |
1451 "chromosome": "chr10", | 1655 "chromosome": "chr10", |
1452 "position": 94775489, | 1656 "position": 94775489, |
1455 "alleles": [ | 1659 "alleles": [ |
1456 "*9" | 1660 "*9" |
1457 ], | 1661 ], |
1458 "phased": false, | 1662 "phased": false, |
1459 "wildtypeAllele": "G", | 1663 "wildtypeAllele": "G", |
1460 "mismatch": false | 1664 "mismatch": false, |
1665 "warnings": [] | |
1461 }, | 1666 }, |
1462 { | 1667 { |
1463 "gene": "CYP2C19", | 1668 "gene": "CYP2C19", |
1464 "chromosome": "chr10", | 1669 "chromosome": "chr10", |
1465 "position": 94775507, | 1670 "position": 94775507, |
1469 "*2", | 1674 "*2", |
1470 "*11" | 1675 "*11" |
1471 ], | 1676 ], |
1472 "phased": false, | 1677 "phased": false, |
1473 "wildtypeAllele": "G", | 1678 "wildtypeAllele": "G", |
1474 "mismatch": false | 1679 "mismatch": false, |
1680 "warnings": [] | |
1475 }, | 1681 }, |
1476 { | 1682 { |
1477 "gene": "CYP2C19", | 1683 "gene": "CYP2C19", |
1478 "chromosome": "chr10", | 1684 "chromosome": "chr10", |
1479 "position": 94780574, | 1685 "position": 94780574, |
1482 "alleles": [ | 1688 "alleles": [ |
1483 "*22" | 1689 "*22" |
1484 ], | 1690 ], |
1485 "phased": false, | 1691 "phased": false, |
1486 "wildtypeAllele": "G", | 1692 "wildtypeAllele": "G", |
1487 "mismatch": false | 1693 "mismatch": false, |
1694 "warnings": [] | |
1488 }, | 1695 }, |
1489 { | 1696 { |
1490 "gene": "CYP2C19", | 1697 "gene": "CYP2C19", |
1491 "chromosome": "chr10", | 1698 "chromosome": "chr10", |
1492 "position": 94780579, | 1699 "position": 94780579, |
1495 "alleles": [ | 1702 "alleles": [ |
1496 "*33" | 1703 "*33" |
1497 ], | 1704 ], |
1498 "phased": false, | 1705 "phased": false, |
1499 "wildtypeAllele": "G", | 1706 "wildtypeAllele": "G", |
1500 "mismatch": false | 1707 "mismatch": false, |
1708 "warnings": [] | |
1501 }, | 1709 }, |
1502 { | 1710 { |
1503 "gene": "CYP2C19", | 1711 "gene": "CYP2C19", |
1504 "chromosome": "chr10", | 1712 "chromosome": "chr10", |
1505 "position": 94780653, | 1713 "position": 94780653, |
1508 "alleles": [ | 1716 "alleles": [ |
1509 "*3" | 1717 "*3" |
1510 ], | 1718 ], |
1511 "phased": false, | 1719 "phased": false, |
1512 "wildtypeAllele": "G", | 1720 "wildtypeAllele": "G", |
1513 "mismatch": false | 1721 "mismatch": false, |
1722 "warnings": [] | |
1514 }, | 1723 }, |
1515 { | 1724 { |
1516 "gene": "CYP2C19", | 1725 "gene": "CYP2C19", |
1517 "chromosome": "chr10", | 1726 "chromosome": "chr10", |
1518 "position": 94781858, | 1727 "position": 94781858, |
1521 "alleles": [ | 1730 "alleles": [ |
1522 "*10" | 1731 "*10" |
1523 ], | 1732 ], |
1524 "phased": false, | 1733 "phased": false, |
1525 "wildtypeAllele": "C", | 1734 "wildtypeAllele": "C", |
1526 "mismatch": false | 1735 "mismatch": false, |
1736 "warnings": [] | |
1527 }, | 1737 }, |
1528 { | 1738 { |
1529 "gene": "CYP2C19", | 1739 "gene": "CYP2C19", |
1530 "chromosome": "chr10", | 1740 "chromosome": "chr10", |
1531 "position": 94781859, | 1741 "position": 94781859, |
1534 "alleles": [ | 1744 "alleles": [ |
1535 "*2" | 1745 "*2" |
1536 ], | 1746 ], |
1537 "phased": false, | 1747 "phased": false, |
1538 "wildtypeAllele": "G", | 1748 "wildtypeAllele": "G", |
1539 "mismatch": false | 1749 "mismatch": false, |
1750 "warnings": [] | |
1540 }, | 1751 }, |
1541 { | 1752 { |
1542 "gene": "CYP2C19", | 1753 "gene": "CYP2C19", |
1543 "chromosome": "chr10", | 1754 "chromosome": "chr10", |
1544 "position": 94781944, | 1755 "position": 94781944, |
1547 "alleles": [ | 1758 "alleles": [ |
1548 "*26" | 1759 "*26" |
1549 ], | 1760 ], |
1550 "phased": false, | 1761 "phased": false, |
1551 "wildtypeAllele": "G", | 1762 "wildtypeAllele": "G", |
1552 "mismatch": false | 1763 "mismatch": false, |
1764 "warnings": [] | |
1553 }, | 1765 }, |
1554 { | 1766 { |
1555 "gene": "CYP2C19", | 1767 "gene": "CYP2C19", |
1556 "chromosome": "chr10", | 1768 "chromosome": "chr10", |
1557 "position": 94781999, | 1769 "position": 94781999, |
1560 "alleles": [ | 1772 "alleles": [ |
1561 "*7" | 1773 "*7" |
1562 ], | 1774 ], |
1563 "phased": false, | 1775 "phased": false, |
1564 "wildtypeAllele": "T", | 1776 "wildtypeAllele": "T", |
1565 "mismatch": false | 1777 "mismatch": false, |
1778 "warnings": [] | |
1566 }, | 1779 }, |
1567 { | 1780 { |
1568 "gene": "CYP2C19", | 1781 "gene": "CYP2C19", |
1569 "chromosome": "chr10", | 1782 "chromosome": "chr10", |
1570 "position": 94842861, | 1783 "position": 94842861, |
1573 "alleles": [ | 1786 "alleles": [ |
1574 "*18" | 1787 "*18" |
1575 ], | 1788 ], |
1576 "phased": false, | 1789 "phased": false, |
1577 "wildtypeAllele": "G", | 1790 "wildtypeAllele": "G", |
1578 "mismatch": false | 1791 "mismatch": false, |
1792 "warnings": [] | |
1579 }, | 1793 }, |
1580 { | 1794 { |
1581 "gene": "CYP2C19", | 1795 "gene": "CYP2C19", |
1582 "chromosome": "chr10", | 1796 "chromosome": "chr10", |
1583 "position": 94842866, | 1797 "position": 94842866, |
1613 "*35", | 1827 "*35", |
1614 "*39" | 1828 "*39" |
1615 ], | 1829 ], |
1616 "phased": false, | 1830 "phased": false, |
1617 "wildtypeAllele": "A", | 1831 "wildtypeAllele": "A", |
1618 "mismatch": false | 1832 "mismatch": false, |
1833 "warnings": [] | |
1619 }, | 1834 }, |
1620 { | 1835 { |
1621 "gene": "CYP2C19", | 1836 "gene": "CYP2C19", |
1622 "chromosome": "chr10", | 1837 "chromosome": "chr10", |
1623 "position": 94842879, | 1838 "position": 94842879, |
1626 "alleles": [ | 1841 "alleles": [ |
1627 "*24" | 1842 "*24" |
1628 ], | 1843 ], |
1629 "phased": false, | 1844 "phased": false, |
1630 "wildtypeAllele": "G", | 1845 "wildtypeAllele": "G", |
1631 "mismatch": false | 1846 "mismatch": false, |
1847 "warnings": [] | |
1632 }, | 1848 }, |
1633 { | 1849 { |
1634 "gene": "CYP2C19", | 1850 "gene": "CYP2C19", |
1635 "chromosome": "chr10", | 1851 "chromosome": "chr10", |
1636 "position": 94842995, | 1852 "position": 94842995, |
1639 "alleles": [ | 1855 "alleles": [ |
1640 "*28" | 1856 "*28" |
1641 ], | 1857 ], |
1642 "phased": false, | 1858 "phased": false, |
1643 "wildtypeAllele": "G", | 1859 "wildtypeAllele": "G", |
1644 "mismatch": false | 1860 "mismatch": false, |
1861 "warnings": [] | |
1645 }, | 1862 }, |
1646 { | 1863 { |
1647 "gene": "CYP2C19", | 1864 "gene": "CYP2C19", |
1648 "chromosome": "chr10", | 1865 "chromosome": "chr10", |
1649 "position": 94849995, | 1866 "position": 94849995, |
1652 "alleles": [ | 1869 "alleles": [ |
1653 "*13" | 1870 "*13" |
1654 ], | 1871 ], |
1655 "phased": false, | 1872 "phased": false, |
1656 "wildtypeAllele": "C", | 1873 "wildtypeAllele": "C", |
1657 "mismatch": false | 1874 "mismatch": false, |
1875 "warnings": [] | |
1658 }, | 1876 }, |
1659 { | 1877 { |
1660 "gene": "CYP2C19", | 1878 "gene": "CYP2C19", |
1661 "chromosome": "chr10", | 1879 "chromosome": "chr10", |
1662 "position": 94852738, | 1880 "position": 94852738, |
1665 "alleles": [ | 1883 "alleles": [ |
1666 "*5" | 1884 "*5" |
1667 ], | 1885 ], |
1668 "phased": false, | 1886 "phased": false, |
1669 "wildtypeAllele": "C", | 1887 "wildtypeAllele": "C", |
1670 "mismatch": false | 1888 "mismatch": false, |
1889 "warnings": [] | |
1671 }, | 1890 }, |
1672 { | 1891 { |
1673 "gene": "CYP2C19", | 1892 "gene": "CYP2C19", |
1674 "chromosome": "chr10", | 1893 "chromosome": "chr10", |
1675 "position": 94852765, | 1894 "position": 94852765, |
1678 "alleles": [ | 1897 "alleles": [ |
1679 "*16" | 1898 "*16" |
1680 ], | 1899 ], |
1681 "phased": false, | 1900 "phased": false, |
1682 "wildtypeAllele": "C", | 1901 "wildtypeAllele": "C", |
1683 "mismatch": false | 1902 "mismatch": false, |
1903 "warnings": [] | |
1684 }, | 1904 }, |
1685 { | 1905 { |
1686 "gene": "CYP2C19", | 1906 "gene": "CYP2C19", |
1687 "chromosome": "chr10", | 1907 "chromosome": "chr10", |
1688 "position": 94852785, | 1908 "position": 94852785, |
1691 "alleles": [ | 1911 "alleles": [ |
1692 "*25" | 1912 "*25" |
1693 ], | 1913 ], |
1694 "phased": false, | 1914 "phased": false, |
1695 "wildtypeAllele": "C", | 1915 "wildtypeAllele": "C", |
1696 "mismatch": false | 1916 "mismatch": false, |
1917 "warnings": [] | |
1697 }, | 1918 }, |
1698 { | 1919 { |
1699 "gene": "CYP2C19", | 1920 "gene": "CYP2C19", |
1700 "chromosome": "chr10", | 1921 "chromosome": "chr10", |
1701 "position": 94852914, | 1922 "position": 94852914, |
1704 "alleles": [ | 1925 "alleles": [ |
1705 "*12" | 1926 "*12" |
1706 ], | 1927 ], |
1707 "phased": false, | 1928 "phased": false, |
1708 "wildtypeAllele": "A", | 1929 "wildtypeAllele": "A", |
1709 "mismatch": false | 1930 "mismatch": false, |
1931 "warnings": [] | |
1710 } | 1932 } |
1711 ], | 1933 ], |
1712 "variantsOfInterest": [], | 1934 "variantsOfInterest": [], |
1713 "highlightedVariants": [] | 1935 "highlightedVariants": [] |
1714 }, | 1936 }, |
1719 "callSource": "MATCHER", | 1941 "callSource": "MATCHER", |
1720 "uncalledHaplotypes": [ | 1942 "uncalledHaplotypes": [ |
1721 "*72", | 1943 "*72", |
1722 "*73", | 1944 "*73", |
1723 "*74", | 1945 "*74", |
1724 "*75" | 1946 "*75", |
1947 "*76", | |
1948 "*77", | |
1949 "*78", | |
1950 "*79", | |
1951 "*80", | |
1952 "*81", | |
1953 "*82", | |
1954 "*83", | |
1955 "*84", | |
1956 "*85" | |
1725 ], | 1957 ], |
1726 "messages": [], | 1958 "messages": [], |
1727 "relatedDrugs": [], | 1959 "relatedDrugs": [], |
1728 "matcherDiplotypes": [ | 1960 "matcherDiplotypes": [ |
1729 { | 1961 { |
1738 "name": "*1", | 1970 "name": "*1", |
1739 "function": "Normal function", | 1971 "function": "Normal function", |
1740 "reference": true | 1972 "reference": true |
1741 }, | 1973 }, |
1742 "gene": "CYP2C9", | 1974 "gene": "CYP2C9", |
1743 "phenotype": "Normal Metabolizer", | 1975 "phenotypes": [ |
1976 "Normal Metabolizer" | |
1977 ], | |
1744 "variant": null, | 1978 "variant": null, |
1745 "lookupKey": "2", | 1979 "lookupKey": [ |
1980 "2" | |
1981 ], | |
1746 "label": "*1/*1" | 1982 "label": "*1/*1" |
1747 } | 1983 } |
1748 ], | 1984 ], |
1749 "diplotypes": [ | 1985 "diplotypes": [ |
1750 { | 1986 { |
1759 "name": "*1", | 1995 "name": "*1", |
1760 "function": "Normal function", | 1996 "function": "Normal function", |
1761 "reference": true | 1997 "reference": true |
1762 }, | 1998 }, |
1763 "gene": "CYP2C9", | 1999 "gene": "CYP2C9", |
1764 "phenotype": "Normal Metabolizer", | 2000 "phenotypes": [ |
2001 "Normal Metabolizer" | |
2002 ], | |
1765 "variant": null, | 2003 "variant": null, |
1766 "lookupKey": "2", | 2004 "lookupKey": [ |
2005 "2" | |
2006 ], | |
1767 "label": "*1/*1" | 2007 "label": "*1/*1" |
1768 } | 2008 } |
1769 ], | 2009 ], |
1770 "variants": [ | 2010 "variants": [ |
1771 { | 2011 { |
1777 "alleles": [ | 2017 "alleles": [ |
1778 "*36" | 2018 "*36" |
1779 ], | 2019 ], |
1780 "phased": false, | 2020 "phased": false, |
1781 "wildtypeAllele": "A", | 2021 "wildtypeAllele": "A", |
1782 "mismatch": false | 2022 "mismatch": false, |
2023 "warnings": [] | |
1783 }, | 2024 }, |
1784 { | 2025 { |
1785 "gene": "CYP2C9", | 2026 "gene": "CYP2C9", |
1786 "chromosome": "chr10", | 2027 "chromosome": "chr10", |
1787 "position": 94938737, | 2028 "position": 94938737, |
1790 "alleles": [ | 2031 "alleles": [ |
1791 "*7" | 2032 "*7" |
1792 ], | 2033 ], |
1793 "phased": false, | 2034 "phased": false, |
1794 "wildtypeAllele": "C", | 2035 "wildtypeAllele": "C", |
1795 "mismatch": false | 2036 "mismatch": false, |
2037 "warnings": [] | |
1796 }, | 2038 }, |
1797 { | 2039 { |
1798 "gene": "CYP2C9", | 2040 "gene": "CYP2C9", |
1799 "chromosome": "chr10", | 2041 "chromosome": "chr10", |
1800 "position": 94938771, | 2042 "position": 94938771, |
1803 "alleles": [ | 2045 "alleles": [ |
1804 "*21" | 2046 "*21" |
1805 ], | 2047 ], |
1806 "phased": false, | 2048 "phased": false, |
1807 "wildtypeAllele": "C", | 2049 "wildtypeAllele": "C", |
1808 "mismatch": false | 2050 "mismatch": false, |
2051 "warnings": [] | |
1809 }, | 2052 }, |
1810 { | 2053 { |
1811 "gene": "CYP2C9", | 2054 "gene": "CYP2C9", |
1812 "chromosome": "chr10", | 2055 "chromosome": "chr10", |
1813 "position": 94938803, | 2056 "position": 94938803, |
1816 "alleles": [ | 2059 "alleles": [ |
1817 "*22" | 2060 "*22" |
1818 ], | 2061 ], |
1819 "phased": false, | 2062 "phased": false, |
1820 "wildtypeAllele": "A", | 2063 "wildtypeAllele": "A", |
1821 "mismatch": false | 2064 "mismatch": false, |
2065 "warnings": [] | |
1822 }, | 2066 }, |
1823 { | 2067 { |
1824 "gene": "CYP2C9", | 2068 "gene": "CYP2C9", |
1825 "chromosome": "chr10", | 2069 "chromosome": "chr10", |
1826 "position": 94938828, | 2070 "position": 94938828, |
1829 "alleles": [ | 2073 "alleles": [ |
1830 "*37" | 2074 "*37" |
1831 ], | 2075 ], |
1832 "phased": false, | 2076 "phased": false, |
1833 "wildtypeAllele": "A", | 2077 "wildtypeAllele": "A", |
1834 "mismatch": false | 2078 "mismatch": false, |
2079 "warnings": [] | |
1835 }, | 2080 }, |
1836 { | 2081 { |
1837 "gene": "CYP2C9", | 2082 "gene": "CYP2C9", |
1838 "chromosome": "chr10", | 2083 "chromosome": "chr10", |
1839 "position": 94941897, | 2084 "position": 94941897, |
1842 "alleles": [ | 2087 "alleles": [ |
1843 "*20" | 2088 "*20" |
1844 ], | 2089 ], |
1845 "phased": false, | 2090 "phased": false, |
1846 "wildtypeAllele": "G", | 2091 "wildtypeAllele": "G", |
1847 "mismatch": false | 2092 "mismatch": false, |
2093 "warnings": [] | |
1848 }, | 2094 }, |
1849 { | 2095 { |
1850 "gene": "CYP2C9", | 2096 "gene": "CYP2C9", |
1851 "chromosome": "chr10", | 2097 "chromosome": "chr10", |
1852 "position": 94941915, | 2098 "position": 94941915, |
1855 "alleles": [ | 2101 "alleles": [ |
1856 "*23" | 2102 "*23" |
1857 ], | 2103 ], |
1858 "phased": false, | 2104 "phased": false, |
1859 "wildtypeAllele": "G", | 2105 "wildtypeAllele": "G", |
1860 "mismatch": false | 2106 "mismatch": false, |
2107 "warnings": [] | |
1861 }, | 2108 }, |
1862 { | 2109 { |
1863 "gene": "CYP2C9", | 2110 "gene": "CYP2C9", |
1864 "chromosome": "chr10", | 2111 "chromosome": "chr10", |
1865 "position": 94941958, | 2112 "position": 94941958, |
1868 "alleles": [ | 2115 "alleles": [ |
1869 "*13" | 2116 "*13" |
1870 ], | 2117 ], |
1871 "phased": false, | 2118 "phased": false, |
1872 "wildtypeAllele": "T", | 2119 "wildtypeAllele": "T", |
1873 "mismatch": false | 2120 "mismatch": false, |
2121 "warnings": [] | |
1874 }, | 2122 }, |
1875 { | 2123 { |
1876 "gene": "CYP2C9", | 2124 "gene": "CYP2C9", |
1877 "chromosome": "chr10", | 2125 "chromosome": "chr10", |
1878 "position": 94941976, | 2126 "position": 94941976, |
1881 "alleles": [ | 2129 "alleles": [ |
1882 "*38" | 2130 "*38" |
1883 ], | 2131 ], |
1884 "phased": false, | 2132 "phased": false, |
1885 "wildtypeAllele": "G", | 2133 "wildtypeAllele": "G", |
1886 "mismatch": false | 2134 "mismatch": false, |
2135 "warnings": [] | |
1887 }, | 2136 }, |
1888 { | 2137 { |
1889 "gene": "CYP2C9", | 2138 "gene": "CYP2C9", |
1890 "chromosome": "chr10", | 2139 "chromosome": "chr10", |
1891 "position": 94941982, | 2140 "position": 94941982, |
1894 "alleles": [ | 2143 "alleles": [ |
1895 "*39" | 2144 "*39" |
1896 ], | 2145 ], |
1897 "phased": false, | 2146 "phased": false, |
1898 "wildtypeAllele": "G", | 2147 "wildtypeAllele": "G", |
1899 "mismatch": false | 2148 "mismatch": false, |
2149 "warnings": [] | |
1900 }, | 2150 }, |
1901 { | 2151 { |
1902 "gene": "CYP2C9", | 2152 "gene": "CYP2C9", |
1903 "chromosome": "chr10", | 2153 "chromosome": "chr10", |
1904 "position": 94942018, | 2154 "position": 94942018, |
1907 "alleles": [ | 2157 "alleles": [ |
1908 "*40" | 2158 "*40" |
1909 ], | 2159 ], |
1910 "phased": false, | 2160 "phased": false, |
1911 "wildtypeAllele": "T", | 2161 "wildtypeAllele": "T", |
1912 "mismatch": false | 2162 "mismatch": false, |
2163 "warnings": [] | |
1913 }, | 2164 }, |
1914 { | 2165 { |
1915 "gene": "CYP2C9", | 2166 "gene": "CYP2C9", |
1916 "chromosome": "chr10", | 2167 "chromosome": "chr10", |
1917 "position": 94942205, | 2168 "position": 94942205, |
1920 "alleles": [ | 2171 "alleles": [ |
1921 "*25" | 2172 "*25" |
1922 ], | 2173 ], |
1923 "phased": false, | 2174 "phased": false, |
1924 "wildtypeAllele": "CAATGGAAAGA", | 2175 "wildtypeAllele": "CAATGGAAAGA", |
1925 "mismatch": false | 2176 "mismatch": false, |
2177 "warnings": [] | |
1926 }, | 2178 }, |
1927 { | 2179 { |
1928 "gene": "CYP2C9", | 2180 "gene": "CYP2C9", |
1929 "chromosome": "chr10", | 2181 "chromosome": "chr10", |
1930 "position": 94942216, | 2182 "position": 94942216, |
1933 "alleles": [ | 2185 "alleles": [ |
1934 "*41" | 2186 "*41" |
1935 ], | 2187 ], |
1936 "phased": false, | 2188 "phased": false, |
1937 "wildtypeAllele": "A", | 2189 "wildtypeAllele": "A", |
1938 "mismatch": false | 2190 "mismatch": false, |
2191 "warnings": [] | |
1939 }, | 2192 }, |
1940 { | 2193 { |
1941 "gene": "CYP2C9", | 2194 "gene": "CYP2C9", |
1942 "chromosome": "chr10", | 2195 "chromosome": "chr10", |
1943 "position": 94942230, | 2196 "position": 94942230, |
1946 "alleles": [ | 2199 "alleles": [ |
1947 "*43" | 2200 "*43" |
1948 ], | 2201 ], |
1949 "phased": false, | 2202 "phased": false, |
1950 "wildtypeAllele": "C", | 2203 "wildtypeAllele": "C", |
1951 "mismatch": false | 2204 "mismatch": false, |
2205 "warnings": [] | |
1952 }, | 2206 }, |
1953 { | 2207 { |
1954 "gene": "CYP2C9", | 2208 "gene": "CYP2C9", |
1955 "chromosome": "chr10", | 2209 "chromosome": "chr10", |
1956 "position": 94942231, | 2210 "position": 94942231, |
1959 "alleles": [ | 2213 "alleles": [ |
1960 "*42" | 2214 "*42" |
1961 ], | 2215 ], |
1962 "phased": false, | 2216 "phased": false, |
1963 "wildtypeAllele": "G", | 2217 "wildtypeAllele": "G", |
1964 "mismatch": false | 2218 "mismatch": false, |
2219 "warnings": [] | |
1965 }, | 2220 }, |
1966 { | 2221 { |
1967 "gene": "CYP2C9", | 2222 "gene": "CYP2C9", |
1968 "chromosome": "chr10", | 2223 "chromosome": "chr10", |
1969 "position": 94942233, | 2224 "position": 94942233, |
1972 "alleles": [ | 2227 "alleles": [ |
1973 "*62" | 2228 "*62" |
1974 ], | 2229 ], |
1975 "phased": false, | 2230 "phased": false, |
1976 "wildtypeAllele": "C", | 2231 "wildtypeAllele": "C", |
1977 "mismatch": false | 2232 "mismatch": false, |
2233 "warnings": [] | |
1978 }, | 2234 }, |
1979 { | 2235 { |
1980 "gene": "CYP2C9", | 2236 "gene": "CYP2C9", |
1981 "chromosome": "chr10", | 2237 "chromosome": "chr10", |
1982 "position": 94942234, | 2238 "position": 94942234, |
1986 "*14", | 2242 "*14", |
1987 "*35" | 2243 "*35" |
1988 ], | 2244 ], |
1989 "phased": false, | 2245 "phased": false, |
1990 "wildtypeAllele": "G", | 2246 "wildtypeAllele": "G", |
1991 "mismatch": false | 2247 "mismatch": false, |
2248 "warnings": [] | |
1992 }, | 2249 }, |
1993 { | 2250 { |
1994 "gene": "CYP2C9", | 2251 "gene": "CYP2C9", |
1995 "chromosome": "chr10", | 2252 "chromosome": "chr10", |
1996 "position": 94942249, | 2253 "position": 94942249, |
2000 "*26", | 2257 "*26", |
2001 "*44" | 2258 "*44" |
2002 ], | 2259 ], |
2003 "phased": false, | 2260 "phased": false, |
2004 "wildtypeAllele": "C", | 2261 "wildtypeAllele": "C", |
2005 "mismatch": false | 2262 "mismatch": false, |
2263 "warnings": [] | |
2006 }, | 2264 }, |
2007 { | 2265 { |
2008 "gene": "CYP2C9", | 2266 "gene": "CYP2C9", |
2009 "chromosome": "chr10", | 2267 "chromosome": "chr10", |
2010 "position": 94942254, | 2268 "position": 94942254, |
2013 "alleles": [ | 2271 "alleles": [ |
2014 "*45" | 2272 "*45" |
2015 ], | 2273 ], |
2016 "phased": false, | 2274 "phased": false, |
2017 "wildtypeAllele": "C", | 2275 "wildtypeAllele": "C", |
2018 "mismatch": false | 2276 "mismatch": false, |
2277 "warnings": [] | |
2019 }, | 2278 }, |
2020 { | 2279 { |
2021 "gene": "CYP2C9", | 2280 "gene": "CYP2C9", |
2022 "chromosome": "chr10", | 2281 "chromosome": "chr10", |
2023 "position": 94942255, | 2282 "position": 94942255, |
2026 "alleles": [ | 2285 "alleles": [ |
2027 "*33" | 2286 "*33" |
2028 ], | 2287 ], |
2029 "phased": false, | 2288 "phased": false, |
2030 "wildtypeAllele": "G", | 2289 "wildtypeAllele": "G", |
2031 "mismatch": false | 2290 "mismatch": false, |
2291 "warnings": [] | |
2032 }, | 2292 }, |
2033 { | 2293 { |
2034 "gene": "CYP2C9", | 2294 "gene": "CYP2C9", |
2035 "chromosome": "chr10", | 2295 "chromosome": "chr10", |
2036 "position": 94942290, | 2296 "position": 94942290, |
2041 "*35", | 2301 "*35", |
2042 "*61" | 2302 "*61" |
2043 ], | 2303 ], |
2044 "phased": false, | 2304 "phased": false, |
2045 "wildtypeAllele": "C", | 2305 "wildtypeAllele": "C", |
2046 "mismatch": false | 2306 "mismatch": false, |
2307 "warnings": [] | |
2047 }, | 2308 }, |
2048 { | 2309 { |
2049 "gene": "CYP2C9", | 2310 "gene": "CYP2C9", |
2050 "chromosome": "chr10", | 2311 "chromosome": "chr10", |
2051 "position": 94942291, | 2312 "position": 94942291, |
2054 "alleles": [ | 2315 "alleles": [ |
2055 "*63" | 2316 "*63" |
2056 ], | 2317 ], |
2057 "phased": false, | 2318 "phased": false, |
2058 "wildtypeAllele": "G", | 2319 "wildtypeAllele": "G", |
2059 "mismatch": false | 2320 "mismatch": false, |
2321 "warnings": [] | |
2060 }, | 2322 }, |
2061 { | 2323 { |
2062 "gene": "CYP2C9", | 2324 "gene": "CYP2C9", |
2063 "chromosome": "chr10", | 2325 "chromosome": "chr10", |
2064 "position": 94942305, | 2326 "position": 94942305, |
2067 "alleles": [ | 2329 "alleles": [ |
2068 "*46" | 2330 "*46" |
2069 ], | 2331 ], |
2070 "phased": false, | 2332 "phased": false, |
2071 "wildtypeAllele": "G", | 2333 "wildtypeAllele": "G", |
2072 "mismatch": false | 2334 "mismatch": false, |
2335 "warnings": [] | |
2073 }, | 2336 }, |
2074 { | 2337 { |
2075 "gene": "CYP2C9", | 2338 "gene": "CYP2C9", |
2076 "chromosome": "chr10", | 2339 "chromosome": "chr10", |
2077 "position": 94942309, | 2340 "position": 94942309, |
2081 "*8", | 2344 "*8", |
2082 "*27" | 2345 "*27" |
2083 ], | 2346 ], |
2084 "phased": false, | 2347 "phased": false, |
2085 "wildtypeAllele": "G", | 2348 "wildtypeAllele": "G", |
2086 "mismatch": false | 2349 "mismatch": false, |
2350 "warnings": [] | |
2087 }, | 2351 }, |
2088 { | 2352 { |
2089 "gene": "CYP2C9", | 2353 "gene": "CYP2C9", |
2090 "chromosome": "chr10", | 2354 "chromosome": "chr10", |
2091 "position": 94947782, | 2355 "position": 94947782, |
2094 "alleles": [ | 2358 "alleles": [ |
2095 "*15" | 2359 "*15" |
2096 ], | 2360 ], |
2097 "phased": false, | 2361 "phased": false, |
2098 "wildtypeAllele": "C", | 2362 "wildtypeAllele": "C", |
2099 "mismatch": false | 2363 "mismatch": false, |
2364 "warnings": [] | |
2100 }, | 2365 }, |
2101 { | 2366 { |
2102 "gene": "CYP2C9", | 2367 "gene": "CYP2C9", |
2103 "chromosome": "chr10", | 2368 "chromosome": "chr10", |
2104 "position": 94947785, | 2369 "position": 94947785, |
2107 "alleles": [ | 2372 "alleles": [ |
2108 "*47" | 2373 "*47" |
2109 ], | 2374 ], |
2110 "phased": false, | 2375 "phased": false, |
2111 "wildtypeAllele": "C", | 2376 "wildtypeAllele": "C", |
2112 "mismatch": false | 2377 "mismatch": false, |
2378 "warnings": [] | |
2113 }, | 2379 }, |
2114 { | 2380 { |
2115 "gene": "CYP2C9", | 2381 "gene": "CYP2C9", |
2116 "chromosome": "chr10", | 2382 "chromosome": "chr10", |
2117 "position": 94947869, | 2383 "position": 94947869, |
2120 "alleles": [ | 2386 "alleles": [ |
2121 "*69" | 2387 "*69" |
2122 ], | 2388 ], |
2123 "phased": false, | 2389 "phased": false, |
2124 "wildtypeAllele": "A", | 2390 "wildtypeAllele": "A", |
2125 "mismatch": false | 2391 "mismatch": false, |
2392 "warnings": [] | |
2126 }, | 2393 }, |
2127 { | 2394 { |
2128 "gene": "CYP2C9", | 2395 "gene": "CYP2C9", |
2129 "chromosome": "chr10", | 2396 "chromosome": "chr10", |
2130 "position": 94947907, | 2397 "position": 94947907, |
2133 "alleles": [ | 2400 "alleles": [ |
2134 "*57" | 2401 "*57" |
2135 ], | 2402 ], |
2136 "phased": false, | 2403 "phased": false, |
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2942 "warnings": [] | |
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2949 "call": null, | |
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2954 "wildtypeAllele": "T", | |
2955 "mismatch": false, | |
2956 "warnings": [] | |
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2958 { | |
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2963 "call": null, | |
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2969 "mismatch": false, | |
2970 "warnings": [] | |
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2972 { | |
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2978 "alleles": [ | |
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2982 "wildtypeAllele": "G", | |
2983 "mismatch": false, | |
2984 "warnings": [] | |
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2986 { | |
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2991 "call": null, | |
2992 "alleles": [ | |
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2996 "wildtypeAllele": "G", | |
2997 "mismatch": false, | |
2998 "warnings": [] | |
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3000 { | |
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3026 "warnings": [] | |
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3040 "warnings": [] | |
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3054 "warnings": [] | |
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3056 { | |
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3068 "warnings": [] | |
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3075 "call": null, | |
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3080 "wildtypeAllele": "AT", | |
3081 "mismatch": false, | |
3082 "warnings": [] | |
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3090 "alleles": [ | |
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3096 "warnings": [] | |
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3110 "warnings": [] | |
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2677 { | 3112 { |
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2688 "mismatch": false | 3123 "mismatch": false, |
3124 "warnings": [] | |
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3133 "*84" | |
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3137 "mismatch": false, | |
3138 "warnings": [] | |
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2693 "gene": "CYP2C9", | 3143 "gene": "CYP2C9", |
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3222 "Normal Metabolizer" | |
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2781 "*3" | |
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3244 "warnings": [] | |
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2800 { | 3246 { |
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2848 "*3", | |
2849 "*5" | |
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2852 "wildtypeAllele": "A", | |
2853 "mismatch": false | |
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3286 "warnings": [] | |
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2879 "mismatch": false | 3299 "mismatch": false, |
3300 "warnings": [] | |
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3369 "warnings": [] | |
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2960 "mismatch": false | 3382 "mismatch": false, |
3383 "warnings": [] | |
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3000 "name": "Reference", | 3423 "name": "Reference", |
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3002 "reference": true | 3425 "reference": true |
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3004 "gene": "DPYD", | 3427 "gene": "DPYD", |
3005 "phenotype": "Normal Metabolizer", | 3428 "phenotypes": [ |
3429 "Normal Metabolizer" | |
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3007 "lookupKey": "2", | 3432 "lookupKey": [ |
3433 "2" | |
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3008 "label": "Reference/Reference" | 3435 "label": "Reference/Reference" |
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3012 { | 3439 { |
3021 "name": "Reference", | 3448 "name": "Reference", |
3022 "function": "Normal function", | 3449 "function": "Normal function", |
3023 "reference": true | 3450 "reference": true |
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3025 "gene": "DPYD", | 3452 "gene": "DPYD", |
3026 "phenotype": "Normal Metabolizer", | 3453 "phenotypes": [ |
3454 "Normal Metabolizer" | |
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3027 "variant": null, | 3456 "variant": null, |
3028 "lookupKey": "2", | 3457 "lookupKey": [ |
3458 "2" | |
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3029 "label": "Reference/Reference" | 3460 "label": "Reference/Reference" |
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3033 { | 3464 { |
3039 "alleles": [ | 3470 "alleles": [ |
3040 "c.3067C\u003eA" | 3471 "c.3067C\u003eA" |
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3043 "wildtypeAllele": "G", | 3474 "wildtypeAllele": "G", |
3044 "mismatch": false | 3475 "mismatch": false, |
3476 "warnings": [] | |
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3047 "gene": "DPYD", | 3479 "gene": "DPYD", |
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3053 "c.3061G\u003eC" | 3485 "c.3061G\u003eC" |
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3056 "wildtypeAllele": "C", | 3488 "wildtypeAllele": "C", |
3057 "mismatch": false | 3489 "mismatch": false, |
3490 "warnings": [] | |
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3059 { | 3492 { |
3060 "gene": "DPYD", | 3493 "gene": "DPYD", |
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3066 "c.3049G\u003eA" | 3499 "c.3049G\u003eA" |
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3069 "wildtypeAllele": "C", | 3502 "wildtypeAllele": "C", |
3070 "mismatch": false | 3503 "mismatch": false, |
3504 "warnings": [] | |
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3072 { | 3506 { |
3073 "gene": "DPYD", | 3507 "gene": "DPYD", |
3074 "chromosome": "chr1", | 3508 "chromosome": "chr1", |
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3079 "c.2983G\u003eT (*10)" | 3513 "c.2983G\u003eT (*10)" |
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3082 "wildtypeAllele": "C", | 3516 "wildtypeAllele": "C", |
3083 "mismatch": false | 3517 "mismatch": false, |
3518 "warnings": [] | |
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3085 { | 3520 { |
3086 "gene": "DPYD", | 3521 "gene": "DPYD", |
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3092 "c.2978T\u003eG" | 3527 "c.2978T\u003eG" |
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3095 "wildtypeAllele": "A", | 3530 "wildtypeAllele": "A", |
3096 "mismatch": false | 3531 "mismatch": false, |
3532 "warnings": [] | |
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3098 { | 3534 { |
3099 "gene": "DPYD", | 3535 "gene": "DPYD", |
3100 "chromosome": "chr1", | 3536 "chromosome": "chr1", |
3101 "position": 97079077, | 3537 "position": 97079077, |
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3105 "c.2977C\u003eT" | 3541 "c.2977C\u003eT" |
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3108 "wildtypeAllele": "G", | 3544 "wildtypeAllele": "G", |
3109 "mismatch": false | 3545 "mismatch": false, |
3546 "warnings": [] | |
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3111 { | 3548 { |
3112 "gene": "DPYD", | 3549 "gene": "DPYD", |
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3118 "c.2933A\u003eG" | 3555 "c.2933A\u003eG" |
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3120 "phased": false, | 3557 "phased": false, |
3121 "wildtypeAllele": "T", | 3558 "wildtypeAllele": "T", |
3122 "mismatch": false | 3559 "mismatch": false, |
3560 "warnings": [] | |
3123 }, | 3561 }, |
3124 { | 3562 { |
3125 "gene": "DPYD", | 3563 "gene": "DPYD", |
3126 "chromosome": "chr1", | 3564 "chromosome": "chr1", |
3127 "position": 97079133, | 3565 "position": 97079133, |
3130 "alleles": [ | 3568 "alleles": [ |
3131 "c.2921A\u003eT" | 3569 "c.2921A\u003eT" |
3132 ], | 3570 ], |
3133 "phased": false, | 3571 "phased": false, |
3134 "wildtypeAllele": "T", | 3572 "wildtypeAllele": "T", |
3135 "mismatch": false | 3573 "mismatch": false, |
3574 "warnings": [] | |
3136 }, | 3575 }, |
3137 { | 3576 { |
3138 "gene": "DPYD", | 3577 "gene": "DPYD", |
3139 "chromosome": "chr1", | 3578 "chromosome": "chr1", |
3140 "position": 97079139, | 3579 "position": 97079139, |
3143 "alleles": [ | 3582 "alleles": [ |
3144 "c.2915A\u003eG" | 3583 "c.2915A\u003eG" |
3145 ], | 3584 ], |
3146 "phased": false, | 3585 "phased": false, |
3147 "wildtypeAllele": "T", | 3586 "wildtypeAllele": "T", |
3148 "mismatch": false | 3587 "mismatch": false, |
3588 "warnings": [] | |
3149 }, | 3589 }, |
3150 { | 3590 { |
3151 "gene": "DPYD", | 3591 "gene": "DPYD", |
3152 "chromosome": "chr1", | 3592 "chromosome": "chr1", |
3153 "position": 97082365, | 3593 "position": 97082365, |
3156 "alleles": [ | 3596 "alleles": [ |
3157 "c.2872A\u003eG" | 3597 "c.2872A\u003eG" |
3158 ], | 3598 ], |
3159 "phased": false, | 3599 "phased": false, |
3160 "wildtypeAllele": "T", | 3600 "wildtypeAllele": "T", |
3161 "mismatch": false | 3601 "mismatch": false, |
3602 "warnings": [] | |
3162 }, | 3603 }, |
3163 { | 3604 { |
3164 "gene": "DPYD", | 3605 "gene": "DPYD", |
3165 "chromosome": "chr1", | 3606 "chromosome": "chr1", |
3166 "position": 97082391, | 3607 "position": 97082391, |
3169 "alleles": [ | 3610 "alleles": [ |
3170 "c.2846A\u003eT" | 3611 "c.2846A\u003eT" |
3171 ], | 3612 ], |
3172 "phased": false, | 3613 "phased": false, |
3173 "wildtypeAllele": "T", | 3614 "wildtypeAllele": "T", |
3174 "mismatch": false | 3615 "mismatch": false, |
3616 "warnings": [] | |
3175 }, | 3617 }, |
3176 { | 3618 { |
3177 "gene": "DPYD", | 3619 "gene": "DPYD", |
3178 "chromosome": "chr1", | 3620 "chromosome": "chr1", |
3179 "position": 97098598, | 3621 "position": 97098598, |
3182 "alleles": [ | 3624 "alleles": [ |
3183 "c.2657G\u003eA (*9B)" | 3625 "c.2657G\u003eA (*9B)" |
3184 ], | 3626 ], |
3185 "phased": false, | 3627 "phased": false, |
3186 "wildtypeAllele": "C", | 3628 "wildtypeAllele": "C", |
3187 "mismatch": false | 3629 "mismatch": false, |
3630 "warnings": [] | |
3188 }, | 3631 }, |
3189 { | 3632 { |
3190 "gene": "DPYD", | 3633 "gene": "DPYD", |
3191 "chromosome": "chr1", | 3634 "chromosome": "chr1", |
3192 "position": 97098599, | 3635 "position": 97098599, |
3195 "alleles": [ | 3638 "alleles": [ |
3196 "c.2656C\u003eT" | 3639 "c.2656C\u003eT" |
3197 ], | 3640 ], |
3198 "phased": false, | 3641 "phased": false, |
3199 "wildtypeAllele": "G", | 3642 "wildtypeAllele": "G", |
3200 "mismatch": false | 3643 "mismatch": false, |
3644 "warnings": [] | |
3201 }, | 3645 }, |
3202 { | 3646 { |
3203 "gene": "DPYD", | 3647 "gene": "DPYD", |
3204 "chromosome": "chr1", | 3648 "chromosome": "chr1", |
3205 "position": 97098616, | 3649 "position": 97098616, |
3208 "alleles": [ | 3652 "alleles": [ |
3209 "c.2639G\u003eT" | 3653 "c.2639G\u003eT" |
3210 ], | 3654 ], |
3211 "phased": false, | 3655 "phased": false, |
3212 "wildtypeAllele": "C", | 3656 "wildtypeAllele": "C", |
3213 "mismatch": false | 3657 "mismatch": false, |
3658 "warnings": [] | |
3214 }, | 3659 }, |
3215 { | 3660 { |
3216 "gene": "DPYD", | 3661 "gene": "DPYD", |
3217 "chromosome": "chr1", | 3662 "chromosome": "chr1", |
3218 "position": 97098632, | 3663 "position": 97098632, |
3221 "alleles": [ | 3666 "alleles": [ |
3222 "c.2623A\u003eC" | 3667 "c.2623A\u003eC" |
3223 ], | 3668 ], |
3224 "phased": false, | 3669 "phased": false, |
3225 "wildtypeAllele": "T", | 3670 "wildtypeAllele": "T", |
3226 "mismatch": false | 3671 "mismatch": false, |
3672 "warnings": [] | |
3227 }, | 3673 }, |
3228 { | 3674 { |
3229 "gene": "DPYD", | 3675 "gene": "DPYD", |
3230 "chromosome": "chr1", | 3676 "chromosome": "chr1", |
3231 "position": 97193109, | 3677 "position": 97193109, |
3234 "alleles": [ | 3680 "alleles": [ |
3235 "c.2582A\u003eG" | 3681 "c.2582A\u003eG" |
3236 ], | 3682 ], |
3237 "phased": false, | 3683 "phased": false, |
3238 "wildtypeAllele": "T", | 3684 "wildtypeAllele": "T", |
3239 "mismatch": false | 3685 "mismatch": false, |
3686 "warnings": [] | |
3240 }, | 3687 }, |
3241 { | 3688 { |
3242 "gene": "DPYD", | 3689 "gene": "DPYD", |
3243 "chromosome": "chr1", | 3690 "chromosome": "chr1", |
3244 "position": 97193209, | 3691 "position": 97193209, |
3247 "alleles": [ | 3694 "alleles": [ |
3248 "c.2482G\u003eA" | 3695 "c.2482G\u003eA" |
3249 ], | 3696 ], |
3250 "phased": false, | 3697 "phased": false, |
3251 "wildtypeAllele": "C", | 3698 "wildtypeAllele": "C", |
3252 "mismatch": false | 3699 "mismatch": false, |
3700 "warnings": [] | |
3253 }, | 3701 }, |
3254 { | 3702 { |
3255 "gene": "DPYD", | 3703 "gene": "DPYD", |
3256 "chromosome": "chr1", | 3704 "chromosome": "chr1", |
3257 "position": 97234958, | 3705 "position": 97234958, |
3260 "alleles": [ | 3708 "alleles": [ |
3261 "c.2336C\u003eA" | 3709 "c.2336C\u003eA" |
3262 ], | 3710 ], |
3263 "phased": false, | 3711 "phased": false, |
3264 "wildtypeAllele": "G", | 3712 "wildtypeAllele": "G", |
3265 "mismatch": false | 3713 "mismatch": false, |
3714 "warnings": [] | |
3266 }, | 3715 }, |
3267 { | 3716 { |
3268 "gene": "DPYD", | 3717 "gene": "DPYD", |
3269 "chromosome": "chr1", | 3718 "chromosome": "chr1", |
3270 "position": 97234991, | 3719 "position": 97234991, |
3273 "alleles": [ | 3722 "alleles": [ |
3274 "c.2303C\u003eA" | 3723 "c.2303C\u003eA" |
3275 ], | 3724 ], |
3276 "phased": false, | 3725 "phased": false, |
3277 "wildtypeAllele": "G", | 3726 "wildtypeAllele": "G", |
3278 "mismatch": false | 3727 "mismatch": false, |
3728 "warnings": [] | |
3279 }, | 3729 }, |
3280 { | 3730 { |
3281 "gene": "DPYD", | 3731 "gene": "DPYD", |
3282 "chromosome": "chr1", | 3732 "chromosome": "chr1", |
3283 "position": 97305279, | 3733 "position": 97305279, |
3286 "alleles": [ | 3736 "alleles": [ |
3287 "c.2279C\u003eT" | 3737 "c.2279C\u003eT" |
3288 ], | 3738 ], |
3289 "phased": false, | 3739 "phased": false, |
3290 "wildtypeAllele": "G", | 3740 "wildtypeAllele": "G", |
3291 "mismatch": false | 3741 "mismatch": false, |
3742 "warnings": [] | |
3292 }, | 3743 }, |
3293 { | 3744 { |
3294 "gene": "DPYD", | 3745 "gene": "DPYD", |
3295 "chromosome": "chr1", | 3746 "chromosome": "chr1", |
3296 "position": 97305363, | 3747 "position": 97305363, |
3299 "alleles": [ | 3750 "alleles": [ |
3300 "c.2195T\u003eG" | 3751 "c.2195T\u003eG" |
3301 ], | 3752 ], |
3302 "phased": false, | 3753 "phased": false, |
3303 "wildtypeAllele": "A", | 3754 "wildtypeAllele": "A", |
3304 "mismatch": false | 3755 "mismatch": false, |
3756 "warnings": [] | |
3305 }, | 3757 }, |
3306 { | 3758 { |
3307 "gene": "DPYD", | 3759 "gene": "DPYD", |
3308 "chromosome": "chr1", | 3760 "chromosome": "chr1", |
3309 "position": 97305364, | 3761 "position": 97305364, |
3312 "alleles": [ | 3764 "alleles": [ |
3313 "c.2194G\u003eA (*6)" | 3765 "c.2194G\u003eA (*6)" |
3314 ], | 3766 ], |
3315 "phased": false, | 3767 "phased": false, |
3316 "wildtypeAllele": "C", | 3768 "wildtypeAllele": "C", |
3317 "mismatch": false | 3769 "mismatch": false, |
3770 "warnings": [] | |
3318 }, | 3771 }, |
3319 { | 3772 { |
3320 "gene": "DPYD", | 3773 "gene": "DPYD", |
3321 "chromosome": "chr1", | 3774 "chromosome": "chr1", |
3322 "position": 97305372, | 3775 "position": 97305372, |
3325 "alleles": [ | 3778 "alleles": [ |
3326 "c.2186C\u003eT" | 3779 "c.2186C\u003eT" |
3327 ], | 3780 ], |
3328 "phased": false, | 3781 "phased": false, |
3329 "wildtypeAllele": "G", | 3782 "wildtypeAllele": "G", |
3330 "mismatch": false | 3783 "mismatch": false, |
3784 "warnings": [] | |
3331 }, | 3785 }, |
3332 { | 3786 { |
3333 "gene": "DPYD", | 3787 "gene": "DPYD", |
3334 "chromosome": "chr1", | 3788 "chromosome": "chr1", |
3335 "position": 97306195, | 3789 "position": 97306195, |
3338 "alleles": [ | 3792 "alleles": [ |
3339 "c.2161G\u003eA" | 3793 "c.2161G\u003eA" |
3340 ], | 3794 ], |
3341 "phased": false, | 3795 "phased": false, |
3342 "wildtypeAllele": "C", | 3796 "wildtypeAllele": "C", |
3343 "mismatch": false | 3797 "mismatch": false, |
3798 "warnings": [] | |
3344 }, | 3799 }, |
3345 { | 3800 { |
3346 "gene": "DPYD", | 3801 "gene": "DPYD", |
3347 "chromosome": "chr1", | 3802 "chromosome": "chr1", |
3348 "position": 97373598, | 3803 "position": 97373598, |
3351 "alleles": [ | 3806 "alleles": [ |
3352 "c.2021G\u003eA" | 3807 "c.2021G\u003eA" |
3353 ], | 3808 ], |
3354 "phased": false, | 3809 "phased": false, |
3355 "wildtypeAllele": "C", | 3810 "wildtypeAllele": "C", |
3356 "mismatch": false | 3811 "mismatch": false, |
3812 "warnings": [] | |
3357 }, | 3813 }, |
3358 { | 3814 { |
3359 "gene": "DPYD", | 3815 "gene": "DPYD", |
3360 "chromosome": "chr1", | 3816 "chromosome": "chr1", |
3361 "position": 97373629, | 3817 "position": 97373629, |
3364 "alleles": [ | 3820 "alleles": [ |
3365 "c.1990G\u003eT" | 3821 "c.1990G\u003eT" |
3366 ], | 3822 ], |
3367 "phased": false, | 3823 "phased": false, |
3368 "wildtypeAllele": "C", | 3824 "wildtypeAllele": "C", |
3369 "mismatch": false | 3825 "mismatch": false, |
3826 "warnings": [] | |
3370 }, | 3827 }, |
3371 { | 3828 { |
3372 "gene": "DPYD", | 3829 "gene": "DPYD", |
3373 "chromosome": "chr1", | 3830 "chromosome": "chr1", |
3374 "position": 97382461, | 3831 "position": 97382461, |
3377 "alleles": [ | 3834 "alleles": [ |
3378 "c.1906A\u003eC" | 3835 "c.1906A\u003eC" |
3379 ], | 3836 ], |
3380 "phased": false, | 3837 "phased": false, |
3381 "wildtypeAllele": "T", | 3838 "wildtypeAllele": "T", |
3382 "mismatch": false | 3839 "mismatch": false, |
3840 "warnings": [] | |
3383 }, | 3841 }, |
3384 { | 3842 { |
3385 "gene": "DPYD", | 3843 "gene": "DPYD", |
3386 "chromosome": "chr1", | 3844 "chromosome": "chr1", |
3387 "position": 97450058, | 3845 "position": 97450058, |
3390 "alleles": [ | 3848 "alleles": [ |
3391 "c.1905+1G\u003eA (*2A)" | 3849 "c.1905+1G\u003eA (*2A)" |
3392 ], | 3850 ], |
3393 "phased": false, | 3851 "phased": false, |
3394 "wildtypeAllele": "C", | 3852 "wildtypeAllele": "C", |
3395 "mismatch": false | 3853 "mismatch": false, |
3854 "warnings": [] | |
3396 }, | 3855 }, |
3397 { | 3856 { |
3398 "gene": "DPYD", | 3857 "gene": "DPYD", |
3399 "chromosome": "chr1", | 3858 "chromosome": "chr1", |
3400 "position": 97450059, | 3859 "position": 97450059, |
3403 "alleles": [ | 3862 "alleles": [ |
3404 "c.1905C\u003eG" | 3863 "c.1905C\u003eG" |
3405 ], | 3864 ], |
3406 "phased": false, | 3865 "phased": false, |
3407 "wildtypeAllele": "G", | 3866 "wildtypeAllele": "G", |
3408 "mismatch": false | 3867 "mismatch": false, |
3868 "warnings": [] | |
3409 }, | 3869 }, |
3410 { | 3870 { |
3411 "gene": "DPYD", | 3871 "gene": "DPYD", |
3412 "chromosome": "chr1", | 3872 "chromosome": "chr1", |
3413 "position": 97450065, | 3873 "position": 97450065, |
3416 "alleles": [ | 3876 "alleles": [ |
3417 "c.1898delC (*3)" | 3877 "c.1898delC (*3)" |
3418 ], | 3878 ], |
3419 "phased": false, | 3879 "phased": false, |
3420 "wildtypeAllele": "TG", | 3880 "wildtypeAllele": "TG", |
3421 "mismatch": false | 3881 "mismatch": false, |
3882 "warnings": [] | |
3422 }, | 3883 }, |
3423 { | 3884 { |
3424 "gene": "DPYD", | 3885 "gene": "DPYD", |
3425 "chromosome": "chr1", | 3886 "chromosome": "chr1", |
3426 "position": 97450068, | 3887 "position": 97450068, |
3429 "alleles": [ | 3890 "alleles": [ |
3430 "c.1896T\u003eC" | 3891 "c.1896T\u003eC" |
3431 ], | 3892 ], |
3432 "phased": false, | 3893 "phased": false, |
3433 "wildtypeAllele": "A", | 3894 "wildtypeAllele": "A", |
3434 "mismatch": false | 3895 "mismatch": false, |
3896 "warnings": [] | |
3435 }, | 3897 }, |
3436 { | 3898 { |
3437 "gene": "DPYD", | 3899 "gene": "DPYD", |
3438 "chromosome": "chr1", | 3900 "chromosome": "chr1", |
3439 "position": 97450168, | 3901 "position": 97450168, |
3442 "alleles": [ | 3904 "alleles": [ |
3443 "c.1796T\u003eC" | 3905 "c.1796T\u003eC" |
3444 ], | 3906 ], |
3445 "phased": false, | 3907 "phased": false, |
3446 "wildtypeAllele": "A", | 3908 "wildtypeAllele": "A", |
3447 "mismatch": false | 3909 "mismatch": false, |
3910 "warnings": [] | |
3448 }, | 3911 }, |
3449 { | 3912 { |
3450 "gene": "DPYD", | 3913 "gene": "DPYD", |
3451 "chromosome": "chr1", | 3914 "chromosome": "chr1", |
3452 "position": 97450187, | 3915 "position": 97450187, |
3455 "alleles": [ | 3918 "alleles": [ |
3456 "c.1777G\u003eA" | 3919 "c.1777G\u003eA" |
3457 ], | 3920 ], |
3458 "phased": false, | 3921 "phased": false, |
3459 "wildtypeAllele": "C", | 3922 "wildtypeAllele": "C", |
3460 "mismatch": false | 3923 "mismatch": false, |
3924 "warnings": [] | |
3461 }, | 3925 }, |
3462 { | 3926 { |
3463 "gene": "DPYD", | 3927 "gene": "DPYD", |
3464 "chromosome": "chr1", | 3928 "chromosome": "chr1", |
3465 "position": 97450189, | 3929 "position": 97450189, |
3468 "alleles": [ | 3932 "alleles": [ |
3469 "c.1775G\u003eA" | 3933 "c.1775G\u003eA" |
3470 ], | 3934 ], |
3471 "phased": false, | 3935 "phased": false, |
3472 "wildtypeAllele": "C", | 3936 "wildtypeAllele": "C", |
3473 "mismatch": false | 3937 "mismatch": false, |
3938 "warnings": [] | |
3474 }, | 3939 }, |
3475 { | 3940 { |
3476 "gene": "DPYD", | 3941 "gene": "DPYD", |
3477 "chromosome": "chr1", | 3942 "chromosome": "chr1", |
3478 "position": 97450190, | 3943 "position": 97450190, |
3481 "alleles": [ | 3946 "alleles": [ |
3482 "c.1774C\u003eT" | 3947 "c.1774C\u003eT" |
3483 ], | 3948 ], |
3484 "phased": false, | 3949 "phased": false, |
3485 "wildtypeAllele": "G", | 3950 "wildtypeAllele": "G", |
3486 "mismatch": false | 3951 "mismatch": false, |
3952 "warnings": [] | |
3487 }, | 3953 }, |
3488 { | 3954 { |
3489 "gene": "DPYD", | 3955 "gene": "DPYD", |
3490 "chromosome": "chr1", | 3956 "chromosome": "chr1", |
3491 "position": 97515784, | 3957 "position": 97515784, |
3494 "alleles": [ | 3960 "alleles": [ |
3495 "c.1682G\u003eT" | 3961 "c.1682G\u003eT" |
3496 ], | 3962 ], |
3497 "phased": false, | 3963 "phased": false, |
3498 "wildtypeAllele": "C", | 3964 "wildtypeAllele": "C", |
3499 "mismatch": false | 3965 "mismatch": false, |
3966 "warnings": [] | |
3500 }, | 3967 }, |
3501 { | 3968 { |
3502 "gene": "DPYD", | 3969 "gene": "DPYD", |
3503 "chromosome": "chr1", | 3970 "chromosome": "chr1", |
3504 "position": 97515787, | 3971 "position": 97515787, |
3507 "alleles": [ | 3974 "alleles": [ |
3508 "c.1679T\u003eG (*13)" | 3975 "c.1679T\u003eG (*13)" |
3509 ], | 3976 ], |
3510 "phased": false, | 3977 "phased": false, |
3511 "wildtypeAllele": "A", | 3978 "wildtypeAllele": "A", |
3512 "mismatch": false | 3979 "mismatch": false, |
3980 "warnings": [] | |
3513 }, | 3981 }, |
3514 { | 3982 { |
3515 "gene": "DPYD", | 3983 "gene": "DPYD", |
3516 "chromosome": "chr1", | 3984 "chromosome": "chr1", |
3517 "position": 97515839, | 3985 "position": 97515839, |
3520 "alleles": [ | 3988 "alleles": [ |
3521 "c.1627A\u003eG (*5)" | 3989 "c.1627A\u003eG (*5)" |
3522 ], | 3990 ], |
3523 "phased": false, | 3991 "phased": false, |
3524 "wildtypeAllele": "T", | 3992 "wildtypeAllele": "T", |
3525 "mismatch": false | 3993 "mismatch": false, |
3994 "warnings": [] | |
3526 }, | 3995 }, |
3527 { | 3996 { |
3528 "gene": "DPYD", | 3997 "gene": "DPYD", |
3529 "chromosome": "chr1", | 3998 "chromosome": "chr1", |
3530 "position": 97515851, | 3999 "position": 97515851, |
3533 "alleles": [ | 4002 "alleles": [ |
3534 "c.1615G\u003eA" | 4003 "c.1615G\u003eA" |
3535 ], | 4004 ], |
3536 "phased": false, | 4005 "phased": false, |
3537 "wildtypeAllele": "C", | 4006 "wildtypeAllele": "C", |
3538 "mismatch": false | 4007 "mismatch": false, |
4008 "warnings": [] | |
3539 }, | 4009 }, |
3540 { | 4010 { |
3541 "gene": "DPYD", | 4011 "gene": "DPYD", |
3542 "chromosome": "chr1", | 4012 "chromosome": "chr1", |
3543 "position": 97515865, | 4013 "position": 97515865, |
3546 "alleles": [ | 4016 "alleles": [ |
3547 "c.1601G\u003eA (*4)" | 4017 "c.1601G\u003eA (*4)" |
3548 ], | 4018 ], |
3549 "phased": false, | 4019 "phased": false, |
3550 "wildtypeAllele": "C", | 4020 "wildtypeAllele": "C", |
3551 "mismatch": false | 4021 "mismatch": false, |
4022 "warnings": [] | |
3552 }, | 4023 }, |
3553 { | 4024 { |
3554 "gene": "DPYD", | 4025 "gene": "DPYD", |
3555 "chromosome": "chr1", | 4026 "chromosome": "chr1", |
3556 "position": 97515889, | 4027 "position": 97515889, |
3559 "alleles": [ | 4030 "alleles": [ |
3560 "c.1577C\u003eG" | 4031 "c.1577C\u003eG" |
3561 ], | 4032 ], |
3562 "phased": false, | 4033 "phased": false, |
3563 "wildtypeAllele": "G", | 4034 "wildtypeAllele": "G", |
3564 "mismatch": false | 4035 "mismatch": false, |
4036 "warnings": [] | |
3565 }, | 4037 }, |
3566 { | 4038 { |
3567 "gene": "DPYD", | 4039 "gene": "DPYD", |
3568 "chromosome": "chr1", | 4040 "chromosome": "chr1", |
3569 "position": 97515923, | 4041 "position": 97515923, |
3572 "alleles": [ | 4044 "alleles": [ |
3573 "c.1543G\u003eA" | 4045 "c.1543G\u003eA" |
3574 ], | 4046 ], |
3575 "phased": false, | 4047 "phased": false, |
3576 "wildtypeAllele": "C", | 4048 "wildtypeAllele": "C", |
3577 "mismatch": false | 4049 "mismatch": false, |
4050 "warnings": [] | |
3578 }, | 4051 }, |
3579 { | 4052 { |
3580 "gene": "DPYD", | 4053 "gene": "DPYD", |
3581 "chromosome": "chr1", | 4054 "chromosome": "chr1", |
3582 "position": 97549565, | 4055 "position": 97549565, |
3585 "alleles": [ | 4058 "alleles": [ |
3586 "c.1519G\u003eA" | 4059 "c.1519G\u003eA" |
3587 ], | 4060 ], |
3588 "phased": false, | 4061 "phased": false, |
3589 "wildtypeAllele": "C", | 4062 "wildtypeAllele": "C", |
3590 "mismatch": false | 4063 "mismatch": false, |
4064 "warnings": [] | |
3591 }, | 4065 }, |
3592 { | 4066 { |
3593 "gene": "DPYD", | 4067 "gene": "DPYD", |
3594 "chromosome": "chr1", | 4068 "chromosome": "chr1", |
3595 "position": 97549600, | 4069 "position": 97549600, |
3598 "alleles": [ | 4072 "alleles": [ |
3599 "c.1484A\u003eG" | 4073 "c.1484A\u003eG" |
3600 ], | 4074 ], |
3601 "phased": false, | 4075 "phased": false, |
3602 "wildtypeAllele": "T", | 4076 "wildtypeAllele": "T", |
3603 "mismatch": false | 4077 "mismatch": false, |
4078 "warnings": [] | |
3604 }, | 4079 }, |
3605 { | 4080 { |
3606 "gene": "DPYD", | 4081 "gene": "DPYD", |
3607 "chromosome": "chr1", | 4082 "chromosome": "chr1", |
3608 "position": 97549609, | 4083 "position": 97549609, |
3611 "alleles": [ | 4086 "alleles": [ |
3612 "c.1475C\u003eT" | 4087 "c.1475C\u003eT" |
3613 ], | 4088 ], |
3614 "phased": false, | 4089 "phased": false, |
3615 "wildtypeAllele": "G", | 4090 "wildtypeAllele": "G", |
3616 "mismatch": false | 4091 "mismatch": false, |
4092 "warnings": [] | |
3617 }, | 4093 }, |
3618 { | 4094 { |
3619 "gene": "DPYD", | 4095 "gene": "DPYD", |
3620 "chromosome": "chr1", | 4096 "chromosome": "chr1", |
3621 "position": 97549681, | 4097 "position": 97549681, |
3624 "alleles": [ | 4100 "alleles": [ |
3625 "c.1403C\u003eA" | 4101 "c.1403C\u003eA" |
3626 ], | 4102 ], |
3627 "phased": false, | 4103 "phased": false, |
3628 "wildtypeAllele": "G", | 4104 "wildtypeAllele": "G", |
3629 "mismatch": false | 4105 "mismatch": false, |
4106 "warnings": [] | |
3630 }, | 4107 }, |
3631 { | 4108 { |
3632 "gene": "DPYD", | 4109 "gene": "DPYD", |
3633 "chromosome": "chr1", | 4110 "chromosome": "chr1", |
3634 "position": 97549713, | 4111 "position": 97549713, |
3637 "alleles": [ | 4114 "alleles": [ |
3638 "c.1371C\u003eT" | 4115 "c.1371C\u003eT" |
3639 ], | 4116 ], |
3640 "phased": false, | 4117 "phased": false, |
3641 "wildtypeAllele": "G", | 4118 "wildtypeAllele": "G", |
3642 "mismatch": false | 4119 "mismatch": false, |
4120 "warnings": [] | |
3643 }, | 4121 }, |
3644 { | 4122 { |
3645 "gene": "DPYD", | 4123 "gene": "DPYD", |
3646 "chromosome": "chr1", | 4124 "chromosome": "chr1", |
3647 "position": 97549726, | 4125 "position": 97549726, |
3650 "alleles": [ | 4128 "alleles": [ |
3651 "c.1358C\u003eG" | 4129 "c.1358C\u003eG" |
3652 ], | 4130 ], |
3653 "phased": false, | 4131 "phased": false, |
3654 "wildtypeAllele": "G", | 4132 "wildtypeAllele": "G", |
3655 "mismatch": false | 4133 "mismatch": false, |
4134 "warnings": [] | |
3656 }, | 4135 }, |
3657 { | 4136 { |
3658 "gene": "DPYD", | 4137 "gene": "DPYD", |
3659 "chromosome": "chr1", | 4138 "chromosome": "chr1", |
3660 "position": 97549735, | 4139 "position": 97549735, |
3663 "alleles": [ | 4142 "alleles": [ |
3664 "c.1349C\u003eT" | 4143 "c.1349C\u003eT" |
3665 ], | 4144 ], |
3666 "phased": false, | 4145 "phased": false, |
3667 "wildtypeAllele": "G", | 4146 "wildtypeAllele": "G", |
3668 "mismatch": false | 4147 "mismatch": false, |
4148 "warnings": [] | |
3669 }, | 4149 }, |
3670 { | 4150 { |
3671 "gene": "DPYD", | 4151 "gene": "DPYD", |
3672 "chromosome": "chr1", | 4152 "chromosome": "chr1", |
3673 "position": 97573785, | 4153 "position": 97573785, |
3676 "alleles": [ | 4156 "alleles": [ |
3677 "c.1314T\u003eG" | 4157 "c.1314T\u003eG" |
3678 ], | 4158 ], |
3679 "phased": false, | 4159 "phased": false, |
3680 "wildtypeAllele": "A", | 4160 "wildtypeAllele": "A", |
3681 "mismatch": false | 4161 "mismatch": false, |
4162 "warnings": [] | |
3682 }, | 4163 }, |
3683 { | 4164 { |
3684 "gene": "DPYD", | 4165 "gene": "DPYD", |
3685 "chromosome": "chr1", | 4166 "chromosome": "chr1", |
3686 "position": 97573805, | 4167 "position": 97573805, |
3689 "alleles": [ | 4170 "alleles": [ |
3690 "c.1294G\u003eA" | 4171 "c.1294G\u003eA" |
3691 ], | 4172 ], |
3692 "phased": false, | 4173 "phased": false, |
3693 "wildtypeAllele": "C", | 4174 "wildtypeAllele": "C", |
3694 "mismatch": false | 4175 "mismatch": false, |
4176 "warnings": [] | |
3695 }, | 4177 }, |
3696 { | 4178 { |
3697 "gene": "DPYD", | 4179 "gene": "DPYD", |
3698 "chromosome": "chr1", | 4180 "chromosome": "chr1", |
3699 "position": 97573821, | 4181 "position": 97573821, |
3702 "alleles": [ | 4184 "alleles": [ |
3703 "c.1278G\u003eT" | 4185 "c.1278G\u003eT" |
3704 ], | 4186 ], |
3705 "phased": false, | 4187 "phased": false, |
3706 "wildtypeAllele": "C", | 4188 "wildtypeAllele": "C", |
3707 "mismatch": false | 4189 "mismatch": false, |
4190 "warnings": [] | |
3708 }, | 4191 }, |
3709 { | 4192 { |
3710 "gene": "DPYD", | 4193 "gene": "DPYD", |
3711 "chromosome": "chr1", | 4194 "chromosome": "chr1", |
3712 "position": 97573839, | 4195 "position": 97573839, |
3715 "alleles": [ | 4198 "alleles": [ |
3716 "c.1260T\u003eA" | 4199 "c.1260T\u003eA" |
3717 ], | 4200 ], |
3718 "phased": false, | 4201 "phased": false, |
3719 "wildtypeAllele": "A", | 4202 "wildtypeAllele": "A", |
3720 "mismatch": false | 4203 "mismatch": false, |
4204 "warnings": [] | |
3721 }, | 4205 }, |
3722 { | 4206 { |
3723 "gene": "DPYD", | 4207 "gene": "DPYD", |
3724 "chromosome": "chr1", | 4208 "chromosome": "chr1", |
3725 "position": 97573863, | 4209 "position": 97573863, |
3728 "alleles": [ | 4212 "alleles": [ |
3729 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4213 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
3730 ], | 4214 ], |
3731 "phased": false, | 4215 "phased": false, |
3732 "wildtypeAllele": "C", | 4216 "wildtypeAllele": "C", |
3733 "mismatch": false | 4217 "mismatch": false, |
4218 "warnings": [] | |
3734 }, | 4219 }, |
3735 { | 4220 { |
3736 "gene": "DPYD", | 4221 "gene": "DPYD", |
3737 "chromosome": "chr1", | 4222 "chromosome": "chr1", |
3738 "position": 97573881, | 4223 "position": 97573881, |
3741 "alleles": [ | 4226 "alleles": [ |
3742 "c.1218G\u003eA" | 4227 "c.1218G\u003eA" |
3743 ], | 4228 ], |
3744 "phased": false, | 4229 "phased": false, |
3745 "wildtypeAllele": "C", | 4230 "wildtypeAllele": "C", |
3746 "mismatch": false | 4231 "mismatch": false, |
4232 "warnings": [] | |
3747 }, | 4233 }, |
3748 { | 4234 { |
3749 "gene": "DPYD", | 4235 "gene": "DPYD", |
3750 "chromosome": "chr1", | 4236 "chromosome": "chr1", |
3751 "position": 97573918, | 4237 "position": 97573918, |
3754 "alleles": [ | 4240 "alleles": [ |
3755 "c.1181G\u003eT" | 4241 "c.1181G\u003eT" |
3756 ], | 4242 ], |
3757 "phased": false, | 4243 "phased": false, |
3758 "wildtypeAllele": "C", | 4244 "wildtypeAllele": "C", |
3759 "mismatch": false | 4245 "mismatch": false, |
4246 "warnings": [] | |
3760 }, | 4247 }, |
3761 { | 4248 { |
3762 "gene": "DPYD", | 4249 "gene": "DPYD", |
3763 "chromosome": "chr1", | 4250 "chromosome": "chr1", |
3764 "position": 97573919, | 4251 "position": 97573919, |
3767 "alleles": [ | 4254 "alleles": [ |
3768 "c.1180C\u003eT" | 4255 "c.1180C\u003eT" |
3769 ], | 4256 ], |
3770 "phased": false, | 4257 "phased": false, |
3771 "wildtypeAllele": "G", | 4258 "wildtypeAllele": "G", |
3772 "mismatch": false | 4259 "mismatch": false, |
4260 "warnings": [] | |
3773 }, | 4261 }, |
3774 { | 4262 { |
3775 "gene": "DPYD", | 4263 "gene": "DPYD", |
3776 "chromosome": "chr1", | 4264 "chromosome": "chr1", |
3777 "position": 97573943, | 4265 "position": 97573943, |
3780 "alleles": [ | 4268 "alleles": [ |
3781 "c.1156G\u003eT (*12)" | 4269 "c.1156G\u003eT (*12)" |
3782 ], | 4270 ], |
3783 "phased": false, | 4271 "phased": false, |
3784 "wildtypeAllele": "C", | 4272 "wildtypeAllele": "C", |
3785 "mismatch": false | 4273 "mismatch": false, |
4274 "warnings": [] | |
3786 }, | 4275 }, |
3787 { | 4276 { |
3788 "gene": "DPYD", | 4277 "gene": "DPYD", |
3789 "chromosome": "chr1", | 4278 "chromosome": "chr1", |
3790 "position": 97579893, | 4279 "position": 97579893, |
3793 "alleles": [ | 4282 "alleles": [ |
3794 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4283 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
3795 ], | 4284 ], |
3796 "phased": false, | 4285 "phased": false, |
3797 "wildtypeAllele": "G", | 4286 "wildtypeAllele": "G", |
3798 "mismatch": false | 4287 "mismatch": false, |
4288 "warnings": [] | |
3799 }, | 4289 }, |
3800 { | 4290 { |
3801 "gene": "DPYD", | 4291 "gene": "DPYD", |
3802 "chromosome": "chr1", | 4292 "chromosome": "chr1", |
3803 "position": 97593238, | 4293 "position": 97593238, |
3806 "alleles": [ | 4296 "alleles": [ |
3807 "c.1108A\u003eG" | 4297 "c.1108A\u003eG" |
3808 ], | 4298 ], |
3809 "phased": false, | 4299 "phased": false, |
3810 "wildtypeAllele": "T", | 4300 "wildtypeAllele": "T", |
3811 "mismatch": false | 4301 "mismatch": false, |
4302 "warnings": [] | |
3812 }, | 4303 }, |
3813 { | 4304 { |
3814 "gene": "DPYD", | 4305 "gene": "DPYD", |
3815 "chromosome": "chr1", | 4306 "chromosome": "chr1", |
3816 "position": 97593289, | 4307 "position": 97593289, |
3819 "alleles": [ | 4310 "alleles": [ |
3820 "c.1057C\u003eT" | 4311 "c.1057C\u003eT" |
3821 ], | 4312 ], |
3822 "phased": false, | 4313 "phased": false, |
3823 "wildtypeAllele": "G", | 4314 "wildtypeAllele": "G", |
3824 "mismatch": false | 4315 "mismatch": false, |
4316 "warnings": [] | |
3825 }, | 4317 }, |
3826 { | 4318 { |
3827 "gene": "DPYD", | 4319 "gene": "DPYD", |
3828 "chromosome": "chr1", | 4320 "chromosome": "chr1", |
3829 "position": 97593322, | 4321 "position": 97593322, |
3832 "alleles": [ | 4324 "alleles": [ |
3833 "c.1024G\u003eA" | 4325 "c.1024G\u003eA" |
3834 ], | 4326 ], |
3835 "phased": false, | 4327 "phased": false, |
3836 "wildtypeAllele": "C", | 4328 "wildtypeAllele": "C", |
3837 "mismatch": false | 4329 "mismatch": false, |
4330 "warnings": [] | |
3838 }, | 4331 }, |
3839 { | 4332 { |
3840 "gene": "DPYD", | 4333 "gene": "DPYD", |
3841 "chromosome": "chr1", | 4334 "chromosome": "chr1", |
3842 "position": 97593343, | 4335 "position": 97593343, |
3845 "alleles": [ | 4338 "alleles": [ |
3846 "c.1003G\u003eT (*11)" | 4339 "c.1003G\u003eT (*11)" |
3847 ], | 4340 ], |
3848 "phased": false, | 4341 "phased": false, |
3849 "wildtypeAllele": "C", | 4342 "wildtypeAllele": "C", |
3850 "mismatch": false | 4343 "mismatch": false, |
4344 "warnings": [] | |
3851 }, | 4345 }, |
3852 { | 4346 { |
3853 "gene": "DPYD", | 4347 "gene": "DPYD", |
3854 "chromosome": "chr1", | 4348 "chromosome": "chr1", |
3855 "position": 97593379, | 4349 "position": 97593379, |
3858 "alleles": [ | 4352 "alleles": [ |
3859 "c.967G\u003eA" | 4353 "c.967G\u003eA" |
3860 ], | 4354 ], |
3861 "phased": false, | 4355 "phased": false, |
3862 "wildtypeAllele": "C", | 4356 "wildtypeAllele": "C", |
3863 "mismatch": false | 4357 "mismatch": false, |
4358 "warnings": [] | |
3864 }, | 4359 }, |
3865 { | 4360 { |
3866 "gene": "DPYD", | 4361 "gene": "DPYD", |
3867 "chromosome": "chr1", | 4362 "chromosome": "chr1", |
3868 "position": 97595083, | 4363 "position": 97595083, |
3871 "alleles": [ | 4366 "alleles": [ |
3872 "c.934C\u003eT" | 4367 "c.934C\u003eT" |
3873 ], | 4368 ], |
3874 "phased": false, | 4369 "phased": false, |
3875 "wildtypeAllele": "G", | 4370 "wildtypeAllele": "G", |
3876 "mismatch": false | 4371 "mismatch": false, |
4372 "warnings": [] | |
3877 }, | 4373 }, |
3878 { | 4374 { |
3879 "gene": "DPYD", | 4375 "gene": "DPYD", |
3880 "chromosome": "chr1", | 4376 "chromosome": "chr1", |
3881 "position": 97595088, | 4377 "position": 97595088, |
3884 "alleles": [ | 4380 "alleles": [ |
3885 "c.929T\u003eC" | 4381 "c.929T\u003eC" |
3886 ], | 4382 ], |
3887 "phased": false, | 4383 "phased": false, |
3888 "wildtypeAllele": "A", | 4384 "wildtypeAllele": "A", |
3889 "mismatch": false | 4385 "mismatch": false, |
4386 "warnings": [] | |
3890 }, | 4387 }, |
3891 { | 4388 { |
3892 "gene": "DPYD", | 4389 "gene": "DPYD", |
3893 "chromosome": "chr1", | 4390 "chromosome": "chr1", |
3894 "position": 97595149, | 4391 "position": 97595149, |
3897 "alleles": [ | 4394 "alleles": [ |
3898 "c.868A\u003eG" | 4395 "c.868A\u003eG" |
3899 ], | 4396 ], |
3900 "phased": false, | 4397 "phased": false, |
3901 "wildtypeAllele": "T", | 4398 "wildtypeAllele": "T", |
3902 "mismatch": false | 4399 "mismatch": false, |
4400 "warnings": [] | |
3903 }, | 4401 }, |
3904 { | 4402 { |
3905 "gene": "DPYD", | 4403 "gene": "DPYD", |
3906 "chromosome": "chr1", | 4404 "chromosome": "chr1", |
3907 "position": 97679170, | 4405 "position": 97679170, |
3910 "alleles": [ | 4408 "alleles": [ |
3911 "c.775A\u003eG" | 4409 "c.775A\u003eG" |
3912 ], | 4410 ], |
3913 "phased": false, | 4411 "phased": false, |
3914 "wildtypeAllele": "T", | 4412 "wildtypeAllele": "T", |
3915 "mismatch": false | 4413 "mismatch": false, |
4414 "warnings": [] | |
3916 }, | 4415 }, |
3917 { | 4416 { |
3918 "gene": "DPYD", | 4417 "gene": "DPYD", |
3919 "chromosome": "chr1", | 4418 "chromosome": "chr1", |
3920 "position": 97691776, | 4419 "position": 97691776, |
3923 "alleles": [ | 4422 "alleles": [ |
3924 "c.703C\u003eT (*8)" | 4423 "c.703C\u003eT (*8)" |
3925 ], | 4424 ], |
3926 "phased": false, | 4425 "phased": false, |
3927 "wildtypeAllele": "G", | 4426 "wildtypeAllele": "G", |
3928 "mismatch": false | 4427 "mismatch": false, |
4428 "warnings": [] | |
3929 }, | 4429 }, |
3930 { | 4430 { |
3931 "gene": "DPYD", | 4431 "gene": "DPYD", |
3932 "chromosome": "chr1", | 4432 "chromosome": "chr1", |
3933 "position": 97699399, | 4433 "position": 97699399, |
3936 "alleles": [ | 4436 "alleles": [ |
3937 "c.632A\u003eG" | 4437 "c.632A\u003eG" |
3938 ], | 4438 ], |
3939 "phased": false, | 4439 "phased": false, |
3940 "wildtypeAllele": "T", | 4440 "wildtypeAllele": "T", |
3941 "mismatch": false | 4441 "mismatch": false, |
4442 "warnings": [] | |
3942 }, | 4443 }, |
3943 { | 4444 { |
3944 "gene": "DPYD", | 4445 "gene": "DPYD", |
3945 "chromosome": "chr1", | 4446 "chromosome": "chr1", |
3946 "position": 97699430, | 4447 "position": 97699430, |
3949 "alleles": [ | 4450 "alleles": [ |
3950 "c.601A\u003eC" | 4451 "c.601A\u003eC" |
3951 ], | 4452 ], |
3952 "phased": false, | 4453 "phased": false, |
3953 "wildtypeAllele": "T", | 4454 "wildtypeAllele": "T", |
3954 "mismatch": false | 4455 "mismatch": false, |
4456 "warnings": [] | |
3955 }, | 4457 }, |
3956 { | 4458 { |
3957 "gene": "DPYD", | 4459 "gene": "DPYD", |
3958 "chromosome": "chr1", | 4460 "chromosome": "chr1", |
3959 "position": 97699474, | 4461 "position": 97699474, |
3962 "alleles": [ | 4464 "alleles": [ |
3963 "c.557A\u003eG" | 4465 "c.557A\u003eG" |
3964 ], | 4466 ], |
3965 "phased": false, | 4467 "phased": false, |
3966 "wildtypeAllele": "T", | 4468 "wildtypeAllele": "T", |
3967 "mismatch": false | 4469 "mismatch": false, |
4470 "warnings": [] | |
3968 }, | 4471 }, |
3969 { | 4472 { |
3970 "gene": "DPYD", | 4473 "gene": "DPYD", |
3971 "chromosome": "chr1", | 4474 "chromosome": "chr1", |
3972 "position": 97699506, | 4475 "position": 97699506, |
3975 "alleles": [ | 4478 "alleles": [ |
3976 "c.525G\u003eA" | 4479 "c.525G\u003eA" |
3977 ], | 4480 ], |
3978 "phased": false, | 4481 "phased": false, |
3979 "wildtypeAllele": "C", | 4482 "wildtypeAllele": "C", |
3980 "mismatch": false | 4483 "mismatch": false, |
4484 "warnings": [] | |
3981 }, | 4485 }, |
3982 { | 4486 { |
3983 "gene": "DPYD", | 4487 "gene": "DPYD", |
3984 "chromosome": "chr1", | 4488 "chromosome": "chr1", |
3985 "position": 97699533, | 4489 "position": 97699533, |
3988 "alleles": [ | 4492 "alleles": [ |
3989 "c.498G\u003eA" | 4493 "c.498G\u003eA" |
3990 ], | 4494 ], |
3991 "phased": false, | 4495 "phased": false, |
3992 "wildtypeAllele": "C", | 4496 "wildtypeAllele": "C", |
3993 "mismatch": false | 4497 "mismatch": false, |
4498 "warnings": [] | |
3994 }, | 4499 }, |
3995 { | 4500 { |
3996 "gene": "DPYD", | 4501 "gene": "DPYD", |
3997 "chromosome": "chr1", | 4502 "chromosome": "chr1", |
3998 "position": 97699535, | 4503 "position": 97699535, |
4001 "alleles": [ | 4506 "alleles": [ |
4002 "c.496A\u003eG" | 4507 "c.496A\u003eG" |
4003 ], | 4508 ], |
4004 "phased": false, | 4509 "phased": false, |
4005 "wildtypeAllele": "T", | 4510 "wildtypeAllele": "T", |
4006 "mismatch": false | 4511 "mismatch": false, |
4512 "warnings": [] | |
4007 }, | 4513 }, |
4008 { | 4514 { |
4009 "gene": "DPYD", | 4515 "gene": "DPYD", |
4010 "chromosome": "chr1", | 4516 "chromosome": "chr1", |
4011 "position": 97721542, | 4517 "position": 97721542, |
4014 "alleles": [ | 4520 "alleles": [ |
4015 "c.451A\u003eG" | 4521 "c.451A\u003eG" |
4016 ], | 4522 ], |
4017 "phased": false, | 4523 "phased": false, |
4018 "wildtypeAllele": "T", | 4524 "wildtypeAllele": "T", |
4019 "mismatch": false | 4525 "mismatch": false, |
4526 "warnings": [] | |
4020 }, | 4527 }, |
4021 { | 4528 { |
4022 "gene": "DPYD", | 4529 "gene": "DPYD", |
4023 "chromosome": "chr1", | 4530 "chromosome": "chr1", |
4024 "position": 97721650, | 4531 "position": 97721650, |
4027 "alleles": [ | 4534 "alleles": [ |
4028 "c.343A\u003eG" | 4535 "c.343A\u003eG" |
4029 ], | 4536 ], |
4030 "phased": false, | 4537 "phased": false, |
4031 "wildtypeAllele": "T", | 4538 "wildtypeAllele": "T", |
4032 "mismatch": false | 4539 "mismatch": false, |
4540 "warnings": [] | |
4033 }, | 4541 }, |
4034 { | 4542 { |
4035 "gene": "DPYD", | 4543 "gene": "DPYD", |
4036 "chromosome": "chr1", | 4544 "chromosome": "chr1", |
4037 "position": 97740400, | 4545 "position": 97740400, |
4040 "alleles": [ | 4548 "alleles": [ |
4041 "c.313G\u003eA" | 4549 "c.313G\u003eA" |
4042 ], | 4550 ], |
4043 "phased": false, | 4551 "phased": false, |
4044 "wildtypeAllele": "C", | 4552 "wildtypeAllele": "C", |
4045 "mismatch": false | 4553 "mismatch": false, |
4554 "warnings": [] | |
4046 }, | 4555 }, |
4047 { | 4556 { |
4048 "gene": "DPYD", | 4557 "gene": "DPYD", |
4049 "chromosome": "chr1", | 4558 "chromosome": "chr1", |
4050 "position": 97740410, | 4559 "position": 97740410, |
4053 "alleles": [ | 4562 "alleles": [ |
4054 "c.295_298delTCAT (*7)" | 4563 "c.295_298delTCAT (*7)" |
4055 ], | 4564 ], |
4056 "phased": false, | 4565 "phased": false, |
4057 "wildtypeAllele": "GATGA", | 4566 "wildtypeAllele": "GATGA", |
4058 "mismatch": false | 4567 "mismatch": false, |
4568 "warnings": [] | |
4059 }, | 4569 }, |
4060 { | 4570 { |
4061 "gene": "DPYD", | 4571 "gene": "DPYD", |
4062 "chromosome": "chr1", | 4572 "chromosome": "chr1", |
4063 "position": 97883329, | 4573 "position": 97883329, |
4066 "alleles": [ | 4576 "alleles": [ |
4067 "c.85T\u003eC (*9A)" | 4577 "c.85T\u003eC (*9A)" |
4068 ], | 4578 ], |
4069 "phased": false, | 4579 "phased": false, |
4070 "wildtypeAllele": "A", | 4580 "wildtypeAllele": "A", |
4071 "mismatch": false | 4581 "mismatch": false, |
4582 "warnings": [] | |
4072 }, | 4583 }, |
4073 { | 4584 { |
4074 "gene": "DPYD", | 4585 "gene": "DPYD", |
4075 "chromosome": "chr1", | 4586 "chromosome": "chr1", |
4076 "position": 97883352, | 4587 "position": 97883352, |
4079 "alleles": [ | 4590 "alleles": [ |
4080 "c.62G\u003eA" | 4591 "c.62G\u003eA" |
4081 ], | 4592 ], |
4082 "phased": false, | 4593 "phased": false, |
4083 "wildtypeAllele": "C", | 4594 "wildtypeAllele": "C", |
4084 "mismatch": false | 4595 "mismatch": false, |
4596 "warnings": [] | |
4085 }, | 4597 }, |
4086 { | 4598 { |
4087 "gene": "DPYD", | 4599 "gene": "DPYD", |
4088 "chromosome": "chr1", | 4600 "chromosome": "chr1", |
4089 "position": 97883353, | 4601 "position": 97883353, |
4092 "alleles": [ | 4604 "alleles": [ |
4093 "c.61C\u003eT" | 4605 "c.61C\u003eT" |
4094 ], | 4606 ], |
4095 "phased": false, | 4607 "phased": false, |
4096 "wildtypeAllele": "G", | 4608 "wildtypeAllele": "G", |
4097 "mismatch": false | 4609 "mismatch": false, |
4610 "warnings": [] | |
4098 }, | 4611 }, |
4099 { | 4612 { |
4100 "gene": "DPYD", | 4613 "gene": "DPYD", |
4101 "chromosome": "chr1", | 4614 "chromosome": "chr1", |
4102 "position": 97883368, | 4615 "position": 97883368, |
4105 "alleles": [ | 4618 "alleles": [ |
4106 "c.46C\u003eG" | 4619 "c.46C\u003eG" |
4107 ], | 4620 ], |
4108 "phased": false, | 4621 "phased": false, |
4109 "wildtypeAllele": "G", | 4622 "wildtypeAllele": "G", |
4110 "mismatch": false | 4623 "mismatch": false, |
4624 "warnings": [] | |
4111 } | 4625 } |
4112 ], | 4626 ], |
4113 "variantsOfInterest": [], | 4627 "variantsOfInterest": [], |
4114 "highlightedVariants": [] | 4628 "highlightedVariants": [] |
4115 }, | 4629 }, |
4150 "name": "rs12979860 reference (C)", | 4664 "name": "rs12979860 reference (C)", |
4151 "function": null, | 4665 "function": null, |
4152 "reference": true | 4666 "reference": true |
4153 }, | 4667 }, |
4154 "gene": "IFNL3", | 4668 "gene": "IFNL3", |
4155 "phenotype": null, | 4669 "phenotypes": [], |
4156 "variant": null, | 4670 "variant": null, |
4157 "lookupKey": null, | 4671 "lookupKey": [], |
4158 "label": "rs12979860 reference (C)/rs12979860 reference (C)" | 4672 "label": "rs12979860 reference (C)/rs12979860 reference (C)" |
4159 } | 4673 } |
4160 ], | 4674 ], |
4161 "diplotypes": [ | 4675 "diplotypes": [ |
4162 { | 4676 { |
4171 "name": "rs12979860 reference (C)", | 4685 "name": "rs12979860 reference (C)", |
4172 "function": null, | 4686 "function": null, |
4173 "reference": true | 4687 "reference": true |
4174 }, | 4688 }, |
4175 "gene": "IFNL3", | 4689 "gene": "IFNL3", |
4176 "phenotype": null, | 4690 "phenotypes": [], |
4177 "variant": null, | 4691 "variant": null, |
4178 "lookupKey": null, | 4692 "lookupKey": [], |
4179 "label": "rs12979860 reference (C)/rs12979860 reference (C)" | 4693 "label": "rs12979860 reference (C)/rs12979860 reference (C)" |
4180 } | 4694 } |
4181 ], | 4695 ], |
4182 "variants": [ | 4696 "variants": [ |
4183 { | 4697 { |
4189 "alleles": [ | 4703 "alleles": [ |
4190 "rs12979860 variant (T)" | 4704 "rs12979860 variant (T)" |
4191 ], | 4705 ], |
4192 "phased": false, | 4706 "phased": false, |
4193 "wildtypeAllele": "C", | 4707 "wildtypeAllele": "C", |
4194 "mismatch": false | 4708 "mismatch": false, |
4709 "warnings": [] | |
4195 } | 4710 } |
4196 ], | 4711 ], |
4197 "variantsOfInterest": [], | 4712 "variantsOfInterest": [], |
4198 "highlightedVariants": [] | 4713 "highlightedVariants": [] |
4199 }, | 4714 }, |
4218 "name": "*1", | 4733 "name": "*1", |
4219 "function": "Normal Function", | 4734 "function": "Normal Function", |
4220 "reference": true | 4735 "reference": true |
4221 }, | 4736 }, |
4222 "gene": "NUDT15", | 4737 "gene": "NUDT15", |
4223 "phenotype": "Normal Metabolizer", | 4738 "phenotypes": [ |
4739 "Normal Metabolizer" | |
4740 ], | |
4224 "variant": null, | 4741 "variant": null, |
4225 "lookupKey": "Normal Metabolizer", | 4742 "lookupKey": [ |
4743 "Normal Metabolizer" | |
4744 ], | |
4226 "label": "*1/*1" | 4745 "label": "*1/*1" |
4227 } | 4746 } |
4228 ], | 4747 ], |
4229 "diplotypes": [ | 4748 "diplotypes": [ |
4230 { | 4749 { |
4239 "name": "*1", | 4758 "name": "*1", |
4240 "function": "Normal Function", | 4759 "function": "Normal Function", |
4241 "reference": true | 4760 "reference": true |
4242 }, | 4761 }, |
4243 "gene": "NUDT15", | 4762 "gene": "NUDT15", |
4244 "phenotype": "Normal Metabolizer", | 4763 "phenotypes": [ |
4764 "Normal Metabolizer" | |
4765 ], | |
4245 "variant": null, | 4766 "variant": null, |
4246 "lookupKey": "Normal Metabolizer", | 4767 "lookupKey": [ |
4768 "Normal Metabolizer" | |
4769 ], | |
4247 "label": "*1/*1" | 4770 "label": "*1/*1" |
4248 } | 4771 } |
4249 ], | 4772 ], |
4250 "variants": [ | 4773 "variants": [ |
4251 { | 4774 { |
4257 "alleles": [ | 4780 "alleles": [ |
4258 "*10" | 4781 "*10" |
4259 ], | 4782 ], |
4260 "phased": false, | 4783 "phased": false, |
4261 "wildtypeAllele": "T", | 4784 "wildtypeAllele": "T", |
4262 "mismatch": false | 4785 "mismatch": false, |
4786 "warnings": [] | |
4263 }, | 4787 }, |
4264 { | 4788 { |
4265 "gene": "NUDT15", | 4789 "gene": "NUDT15", |
4266 "chromosome": "chr13", | 4790 "chromosome": "chr13", |
4267 "position": 48037749, | 4791 "position": 48037749, |
4270 "alleles": [ | 4794 "alleles": [ |
4271 "*19" | 4795 "*19" |
4272 ], | 4796 ], |
4273 "phased": false, | 4797 "phased": false, |
4274 "wildtypeAllele": "G", | 4798 "wildtypeAllele": "G", |
4275 "mismatch": false | 4799 "mismatch": false, |
4800 "warnings": [] | |
4276 }, | 4801 }, |
4277 { | 4802 { |
4278 "gene": "NUDT15", | 4803 "gene": "NUDT15", |
4279 "chromosome": "chr13", | 4804 "chromosome": "chr13", |
4280 "position": 48037782, | 4805 "position": 48037782, |
4285 "*6", | 4810 "*6", |
4286 "*9" | 4811 "*9" |
4287 ], | 4812 ], |
4288 "phased": false, | 4813 "phased": false, |
4289 "wildtypeAllele": "AGGAGTC", | 4814 "wildtypeAllele": "AGGAGTC", |
4290 "mismatch": false | 4815 "mismatch": false, |
4816 "warnings": [] | |
4291 }, | 4817 }, |
4292 { | 4818 { |
4293 "gene": "NUDT15", | 4819 "gene": "NUDT15", |
4294 "chromosome": "chr13", | 4820 "chromosome": "chr13", |
4295 "position": 48037798, | 4821 "position": 48037798, |
4298 "alleles": [ | 4824 "alleles": [ |
4299 "*5" | 4825 "*5" |
4300 ], | 4826 ], |
4301 "phased": false, | 4827 "phased": false, |
4302 "wildtypeAllele": "G", | 4828 "wildtypeAllele": "G", |
4303 "mismatch": false | 4829 "mismatch": false, |
4830 "warnings": [] | |
4304 }, | 4831 }, |
4305 { | 4832 { |
4306 "gene": "NUDT15", | 4833 "gene": "NUDT15", |
4307 "chromosome": "chr13", | 4834 "chromosome": "chr13", |
4308 "position": 48037825, | 4835 "position": 48037825, |
4311 "alleles": [ | 4838 "alleles": [ |
4312 "*14" | 4839 "*14" |
4313 ], | 4840 ], |
4314 "phased": false, | 4841 "phased": false, |
4315 "wildtypeAllele": "C", | 4842 "wildtypeAllele": "C", |
4316 "mismatch": false | 4843 "mismatch": false, |
4844 "warnings": [] | |
4317 }, | 4845 }, |
4318 { | 4846 { |
4319 "gene": "NUDT15", | 4847 "gene": "NUDT15", |
4320 "chromosome": "chr13", | 4848 "chromosome": "chr13", |
4321 "position": 48037834, | 4849 "position": 48037834, |
4324 "alleles": [ | 4852 "alleles": [ |
4325 "*16" | 4853 "*16" |
4326 ], | 4854 ], |
4327 "phased": false, | 4855 "phased": false, |
4328 "wildtypeAllele": "C", | 4856 "wildtypeAllele": "C", |
4329 "mismatch": false | 4857 "mismatch": false, |
4858 "warnings": [] | |
4330 }, | 4859 }, |
4331 { | 4860 { |
4332 "gene": "NUDT15", | 4861 "gene": "NUDT15", |
4333 "chromosome": "chr13", | 4862 "chromosome": "chr13", |
4334 "position": 48037847, | 4863 "position": 48037847, |
4337 "alleles": [ | 4866 "alleles": [ |
4338 "*7" | 4867 "*7" |
4339 ], | 4868 ], |
4340 "phased": false, | 4869 "phased": false, |
4341 "wildtypeAllele": "G", | 4870 "wildtypeAllele": "G", |
4342 "mismatch": false | 4871 "mismatch": false, |
4872 "warnings": [] | |
4343 }, | 4873 }, |
4344 { | 4874 { |
4345 "gene": "NUDT15", | 4875 "gene": "NUDT15", |
4346 "chromosome": "chr13", | 4876 "chromosome": "chr13", |
4347 "position": 48037849, | 4877 "position": 48037849, |
4350 "alleles": [ | 4880 "alleles": [ |
4351 "*8" | 4881 "*8" |
4352 ], | 4882 ], |
4353 "phased": false, | 4883 "phased": false, |
4354 "wildtypeAllele": "A", | 4884 "wildtypeAllele": "A", |
4355 "mismatch": false | 4885 "mismatch": false, |
4886 "warnings": [] | |
4356 }, | 4887 }, |
4357 { | 4888 { |
4358 "gene": "NUDT15", | 4889 "gene": "NUDT15", |
4359 "chromosome": "chr13", | 4890 "chromosome": "chr13", |
4360 "position": 48037885, | 4891 "position": 48037885, |
4363 "alleles": [ | 4894 "alleles": [ |
4364 "*11" | 4895 "*11" |
4365 ], | 4896 ], |
4366 "phased": false, | 4897 "phased": false, |
4367 "wildtypeAllele": "G", | 4898 "wildtypeAllele": "G", |
4368 "mismatch": false | 4899 "mismatch": false, |
4900 "warnings": [] | |
4369 }, | 4901 }, |
4370 { | 4902 { |
4371 "gene": "NUDT15", | 4903 "gene": "NUDT15", |
4372 "chromosome": "chr13", | 4904 "chromosome": "chr13", |
4373 "position": 48037902, | 4905 "position": 48037902, |
4376 "alleles": [ | 4908 "alleles": [ |
4377 "*12" | 4909 "*12" |
4378 ], | 4910 ], |
4379 "phased": false, | 4911 "phased": false, |
4380 "wildtypeAllele": "C", | 4912 "wildtypeAllele": "C", |
4381 "mismatch": false | 4913 "mismatch": false, |
4914 "warnings": [] | |
4382 }, | 4915 }, |
4383 { | 4916 { |
4384 "gene": "NUDT15", | 4917 "gene": "NUDT15", |
4385 "chromosome": "chr13", | 4918 "chromosome": "chr13", |
4386 "position": 48040977, | 4919 "position": 48040977, |
4389 "alleles": [ | 4922 "alleles": [ |
4390 "*18" | 4923 "*18" |
4391 ], | 4924 ], |
4392 "phased": false, | 4925 "phased": false, |
4393 "wildtypeAllele": "GA", | 4926 "wildtypeAllele": "GA", |
4394 "mismatch": false | 4927 "mismatch": false, |
4928 "warnings": [] | |
4395 }, | 4929 }, |
4396 { | 4930 { |
4397 "gene": "NUDT15", | 4931 "gene": "NUDT15", |
4398 "chromosome": "chr13", | 4932 "chromosome": "chr13", |
4399 "position": 48041103, | 4933 "position": 48041103, |
4402 "alleles": [ | 4936 "alleles": [ |
4403 "*13" | 4937 "*13" |
4404 ], | 4938 ], |
4405 "phased": false, | 4939 "phased": false, |
4406 "wildtypeAllele": "T", | 4940 "wildtypeAllele": "T", |
4407 "mismatch": false | 4941 "mismatch": false, |
4942 "warnings": [] | |
4408 }, | 4943 }, |
4409 { | 4944 { |
4410 "gene": "NUDT15", | 4945 "gene": "NUDT15", |
4411 "chromosome": "chr13", | 4946 "chromosome": "chr13", |
4412 "position": 48041113, | 4947 "position": 48041113, |
4415 "alleles": [ | 4950 "alleles": [ |
4416 "*17" | 4951 "*17" |
4417 ], | 4952 ], |
4418 "phased": false, | 4953 "phased": false, |
4419 "wildtypeAllele": "G", | 4954 "wildtypeAllele": "G", |
4420 "mismatch": false | 4955 "mismatch": false, |
4956 "warnings": [] | |
4421 }, | 4957 }, |
4422 { | 4958 { |
4423 "gene": "NUDT15", | 4959 "gene": "NUDT15", |
4424 "chromosome": "chr13", | 4960 "chromosome": "chr13", |
4425 "position": 48045690, | 4961 "position": 48045690, |
4428 "alleles": [ | 4964 "alleles": [ |
4429 "*20" | 4965 "*20" |
4430 ], | 4966 ], |
4431 "phased": false, | 4967 "phased": false, |
4432 "wildtypeAllele": "C", | 4968 "wildtypeAllele": "C", |
4433 "mismatch": false | 4969 "mismatch": false, |
4970 "warnings": [] | |
4434 }, | 4971 }, |
4435 { | 4972 { |
4436 "gene": "NUDT15", | 4973 "gene": "NUDT15", |
4437 "chromosome": "chr13", | 4974 "chromosome": "chr13", |
4438 "position": 48045719, | 4975 "position": 48045719, |
4442 "*2", | 4979 "*2", |
4443 "*3" | 4980 "*3" |
4444 ], | 4981 ], |
4445 "phased": false, | 4982 "phased": false, |
4446 "wildtypeAllele": "C", | 4983 "wildtypeAllele": "C", |
4447 "mismatch": false | 4984 "mismatch": false, |
4985 "warnings": [] | |
4448 }, | 4986 }, |
4449 { | 4987 { |
4450 "gene": "NUDT15", | 4988 "gene": "NUDT15", |
4451 "chromosome": "chr13", | 4989 "chromosome": "chr13", |
4452 "position": 48045720, | 4990 "position": 48045720, |
4455 "alleles": [ | 4993 "alleles": [ |
4456 "*4" | 4994 "*4" |
4457 ], | 4995 ], |
4458 "phased": false, | 4996 "phased": false, |
4459 "wildtypeAllele": "G", | 4997 "wildtypeAllele": "G", |
4460 "mismatch": false | 4998 "mismatch": false, |
4999 "warnings": [] | |
4461 }, | 5000 }, |
4462 { | 5001 { |
4463 "gene": "NUDT15", | 5002 "gene": "NUDT15", |
4464 "chromosome": "chr13", | 5003 "chromosome": "chr13", |
4465 "position": 48045771, | 5004 "position": 48045771, |
4468 "alleles": [ | 5007 "alleles": [ |
4469 "*15" | 5008 "*15" |
4470 ], | 5009 ], |
4471 "phased": false, | 5010 "phased": false, |
4472 "wildtypeAllele": "T", | 5011 "wildtypeAllele": "T", |
4473 "mismatch": false | 5012 "mismatch": false, |
5013 "warnings": [] | |
4474 } | 5014 } |
4475 ], | 5015 ], |
4476 "variantsOfInterest": [], | 5016 "variantsOfInterest": [], |
4477 "highlightedVariants": [] | 5017 "highlightedVariants": [] |
4478 }, | 5018 }, |
4497 "name": "Reference", | 5037 "name": "Reference", |
4498 "function": "Normal function", | 5038 "function": "Normal function", |
4499 "reference": true | 5039 "reference": true |
4500 }, | 5040 }, |
4501 "gene": "RYR1", | 5041 "gene": "RYR1", |
4502 "phenotype": "Uncertain Susceptibility", | 5042 "phenotypes": [ |
5043 "Uncertain Susceptibility" | |
5044 ], | |
4503 "variant": null, | 5045 "variant": null, |
4504 "lookupKey": "Uncertain Susceptibility", | 5046 "lookupKey": [ |
5047 "Uncertain Susceptibility" | |
5048 ], | |
4505 "label": "Reference/Reference" | 5049 "label": "Reference/Reference" |
4506 } | 5050 } |
4507 ], | 5051 ], |
4508 "diplotypes": [ | 5052 "diplotypes": [ |
4509 { | 5053 { |
4518 "name": "Reference", | 5062 "name": "Reference", |
4519 "function": "Normal function", | 5063 "function": "Normal function", |
4520 "reference": true | 5064 "reference": true |
4521 }, | 5065 }, |
4522 "gene": "RYR1", | 5066 "gene": "RYR1", |
4523 "phenotype": "Uncertain Susceptibility", | 5067 "phenotypes": [ |
5068 "Uncertain Susceptibility" | |
5069 ], | |
4524 "variant": null, | 5070 "variant": null, |
4525 "lookupKey": "Uncertain Susceptibility", | 5071 "lookupKey": [ |
5072 "Uncertain Susceptibility" | |
5073 ], | |
4526 "label": "Reference/Reference" | 5074 "label": "Reference/Reference" |
4527 } | 5075 } |
4528 ], | 5076 ], |
4529 "variants": [ | 5077 "variants": [ |
4530 { | 5078 { |
4536 "alleles": [ | 5084 "alleles": [ |
4537 "c.103T\u003eC" | 5085 "c.103T\u003eC" |
4538 ], | 5086 ], |
4539 "phased": false, | 5087 "phased": false, |
4540 "wildtypeAllele": "T", | 5088 "wildtypeAllele": "T", |
4541 "mismatch": false | 5089 "mismatch": false, |
5090 "warnings": [] | |
4542 }, | 5091 }, |
4543 { | 5092 { |
4544 "gene": "RYR1", | 5093 "gene": "RYR1", |
4545 "chromosome": "chr19", | 5094 "chromosome": "chr19", |
4546 "position": 38440829, | 5095 "position": 38440829, |
4549 "alleles": [ | 5098 "alleles": [ |
4550 "c.130C\u003eT" | 5099 "c.130C\u003eT" |
4551 ], | 5100 ], |
4552 "phased": false, | 5101 "phased": false, |
4553 "wildtypeAllele": "C", | 5102 "wildtypeAllele": "C", |
4554 "mismatch": false | 5103 "mismatch": false, |
5104 "warnings": [] | |
4555 }, | 5105 }, |
4556 { | 5106 { |
4557 "gene": "RYR1", | 5107 "gene": "RYR1", |
4558 "chromosome": "chr19", | 5108 "chromosome": "chr19", |
4559 "position": 38444211, | 5109 "position": 38444211, |
4562 "alleles": [ | 5112 "alleles": [ |
4563 "c.487C\u003eT" | 5113 "c.487C\u003eT" |
4564 ], | 5114 ], |
4565 "phased": false, | 5115 "phased": false, |
4566 "wildtypeAllele": "C", | 5116 "wildtypeAllele": "C", |
4567 "mismatch": false | 5117 "mismatch": false, |
5118 "warnings": [] | |
4568 }, | 5119 }, |
4569 { | 5120 { |
4570 "gene": "RYR1", | 5121 "gene": "RYR1", |
4571 "chromosome": "chr19", | 5122 "chromosome": "chr19", |
4572 "position": 38444212, | 5123 "position": 38444212, |
4575 "alleles": [ | 5126 "alleles": [ |
4576 "c.488G\u003eT" | 5127 "c.488G\u003eT" |
4577 ], | 5128 ], |
4578 "phased": false, | 5129 "phased": false, |
4579 "wildtypeAllele": "G", | 5130 "wildtypeAllele": "G", |
4580 "mismatch": false | 5131 "mismatch": false, |
5132 "warnings": [] | |
4581 }, | 5133 }, |
4582 { | 5134 { |
4583 "gene": "RYR1", | 5135 "gene": "RYR1", |
4584 "chromosome": "chr19", | 5136 "chromosome": "chr19", |
4585 "position": 38446710, | 5137 "position": 38446710, |
4589 "c.742G\u003eA", | 5141 "c.742G\u003eA", |
4590 "c.742G\u003eC" | 5142 "c.742G\u003eC" |
4591 ], | 5143 ], |
4592 "phased": false, | 5144 "phased": false, |
4593 "wildtypeAllele": "G", | 5145 "wildtypeAllele": "G", |
4594 "mismatch": false | 5146 "mismatch": false, |
5147 "warnings": [] | |
4595 }, | 5148 }, |
4596 { | 5149 { |
4597 "gene": "RYR1", | 5150 "gene": "RYR1", |
4598 "chromosome": "chr19", | 5151 "chromosome": "chr19", |
4599 "position": 38448673, | 5152 "position": 38448673, |
4602 "alleles": [ | 5155 "alleles": [ |
4603 "c.982C\u003eT" | 5156 "c.982C\u003eT" |
4604 ], | 5157 ], |
4605 "phased": false, | 5158 "phased": false, |
4606 "wildtypeAllele": "C", | 5159 "wildtypeAllele": "C", |
4607 "mismatch": false | 5160 "mismatch": false, |
5161 "warnings": [] | |
4608 }, | 5162 }, |
4609 { | 5163 { |
4610 "gene": "RYR1", | 5164 "gene": "RYR1", |
4611 "chromosome": "chr19", | 5165 "chromosome": "chr19", |
4612 "position": 38448712, | 5166 "position": 38448712, |
4616 "c.1021G\u003eA", | 5170 "c.1021G\u003eA", |
4617 "c.1021G\u003eC" | 5171 "c.1021G\u003eC" |
4618 ], | 5172 ], |
4619 "phased": false, | 5173 "phased": false, |
4620 "wildtypeAllele": "G", | 5174 "wildtypeAllele": "G", |
4621 "mismatch": false | 5175 "mismatch": false, |
5176 "warnings": [] | |
4622 }, | 5177 }, |
4623 { | 5178 { |
4624 "gene": "RYR1", | 5179 "gene": "RYR1", |
4625 "chromosome": "chr19", | 5180 "chromosome": "chr19", |
4626 "position": 38451842, | 5181 "position": 38451842, |
4629 "alleles": [ | 5184 "alleles": [ |
4630 "c.1201C\u003eT" | 5185 "c.1201C\u003eT" |
4631 ], | 5186 ], |
4632 "phased": false, | 5187 "phased": false, |
4633 "wildtypeAllele": "C", | 5188 "wildtypeAllele": "C", |
4634 "mismatch": false | 5189 "mismatch": false, |
5190 "warnings": [] | |
4635 }, | 5191 }, |
4636 { | 5192 { |
4637 "gene": "RYR1", | 5193 "gene": "RYR1", |
4638 "chromosome": "chr19", | 5194 "chromosome": "chr19", |
4639 "position": 38451850, | 5195 "position": 38451850, |
4642 "alleles": [ | 5198 "alleles": [ |
4643 "c.1209C\u003eG" | 5199 "c.1209C\u003eG" |
4644 ], | 5200 ], |
4645 "phased": false, | 5201 "phased": false, |
4646 "wildtypeAllele": "C", | 5202 "wildtypeAllele": "C", |
4647 "mismatch": false | 5203 "mismatch": false, |
5204 "warnings": [] | |
4648 }, | 5205 }, |
4649 { | 5206 { |
4650 "gene": "RYR1", | 5207 "gene": "RYR1", |
4651 "chromosome": "chr19", | 5208 "chromosome": "chr19", |
4652 "position": 38455359, | 5209 "position": 38455359, |
4655 "alleles": [ | 5212 "alleles": [ |
4656 "c.1565A\u003eC" | 5213 "c.1565A\u003eC" |
4657 ], | 5214 ], |
4658 "phased": false, | 5215 "phased": false, |
4659 "wildtypeAllele": "A", | 5216 "wildtypeAllele": "A", |
4660 "mismatch": false | 5217 "mismatch": false, |
5218 "warnings": [] | |
4661 }, | 5219 }, |
4662 { | 5220 { |
4663 "gene": "RYR1", | 5221 "gene": "RYR1", |
4664 "chromosome": "chr19", | 5222 "chromosome": "chr19", |
4665 "position": 38455463, | 5223 "position": 38455463, |
4668 "alleles": [ | 5226 "alleles": [ |
4669 "c.1589G\u003eA" | 5227 "c.1589G\u003eA" |
4670 ], | 5228 ], |
4671 "phased": false, | 5229 "phased": false, |
4672 "wildtypeAllele": "G", | 5230 "wildtypeAllele": "G", |
4673 "mismatch": false | 5231 "mismatch": false, |
5232 "warnings": [] | |
4674 }, | 5233 }, |
4675 { | 5234 { |
4676 "gene": "RYR1", | 5235 "gene": "RYR1", |
4677 "chromosome": "chr19", | 5236 "chromosome": "chr19", |
4678 "position": 38455471, | 5237 "position": 38455471, |
4681 "alleles": [ | 5240 "alleles": [ |
4682 "c.1597C\u003eT" | 5241 "c.1597C\u003eT" |
4683 ], | 5242 ], |
4684 "phased": false, | 5243 "phased": false, |
4685 "wildtypeAllele": "C", | 5244 "wildtypeAllele": "C", |
4686 "mismatch": false | 5245 "mismatch": false, |
5246 "warnings": [] | |
4687 }, | 5247 }, |
4688 { | 5248 { |
4689 "gene": "RYR1", | 5249 "gene": "RYR1", |
4690 "chromosome": "chr19", | 5250 "chromosome": "chr19", |
4691 "position": 38455472, | 5251 "position": 38455472, |
4694 "alleles": [ | 5254 "alleles": [ |
4695 "c.1598G\u003eA" | 5255 "c.1598G\u003eA" |
4696 ], | 5256 ], |
4697 "phased": false, | 5257 "phased": false, |
4698 "wildtypeAllele": "G", | 5258 "wildtypeAllele": "G", |
4699 "mismatch": false | 5259 "mismatch": false, |
5260 "warnings": [] | |
4700 }, | 5261 }, |
4701 { | 5262 { |
4702 "gene": "RYR1", | 5263 "gene": "RYR1", |
4703 "chromosome": "chr19", | 5264 "chromosome": "chr19", |
4704 "position": 38455528, | 5265 "position": 38455528, |
4707 "alleles": [ | 5268 "alleles": [ |
4708 "c.1654C\u003eT" | 5269 "c.1654C\u003eT" |
4709 ], | 5270 ], |
4710 "phased": false, | 5271 "phased": false, |
4711 "wildtypeAllele": "C", | 5272 "wildtypeAllele": "C", |
4712 "mismatch": false | 5273 "mismatch": false, |
5274 "warnings": [] | |
4713 }, | 5275 }, |
4714 { | 5276 { |
4715 "gene": "RYR1", | 5277 "gene": "RYR1", |
4716 "chromosome": "chr19", | 5278 "chromosome": "chr19", |
4717 "position": 38457545, | 5279 "position": 38457545, |
4720 "alleles": [ | 5282 "alleles": [ |
4721 "c.1840C\u003eT" | 5283 "c.1840C\u003eT" |
4722 ], | 5284 ], |
4723 "phased": false, | 5285 "phased": false, |
4724 "wildtypeAllele": "C", | 5286 "wildtypeAllele": "C", |
4725 "mismatch": false | 5287 "mismatch": false, |
5288 "warnings": [] | |
4726 }, | 5289 }, |
4727 { | 5290 { |
4728 "gene": "RYR1", | 5291 "gene": "RYR1", |
4729 "chromosome": "chr19", | 5292 "chromosome": "chr19", |
4730 "position": 38457546, | 5293 "position": 38457546, |
4733 "alleles": [ | 5296 "alleles": [ |
4734 "c.1841G\u003eT" | 5297 "c.1841G\u003eT" |
4735 ], | 5298 ], |
4736 "phased": false, | 5299 "phased": false, |
4737 "wildtypeAllele": "G", | 5300 "wildtypeAllele": "G", |
4738 "mismatch": false | 5301 "mismatch": false, |
5302 "warnings": [] | |
4739 }, | 5303 }, |
4740 { | 5304 { |
4741 "gene": "RYR1", | 5305 "gene": "RYR1", |
4742 "chromosome": "chr19", | 5306 "chromosome": "chr19", |
4743 "position": 38494564, | 5307 "position": 38494564, |
4746 "alleles": [ | 5310 "alleles": [ |
4747 "c.6487C\u003eT" | 5311 "c.6487C\u003eT" |
4748 ], | 5312 ], |
4749 "phased": false, | 5313 "phased": false, |
4750 "wildtypeAllele": "C", | 5314 "wildtypeAllele": "C", |
4751 "mismatch": false | 5315 "mismatch": false, |
5316 "warnings": [] | |
4752 }, | 5317 }, |
4753 { | 5318 { |
4754 "gene": "RYR1", | 5319 "gene": "RYR1", |
4755 "chromosome": "chr19", | 5320 "chromosome": "chr19", |
4756 "position": 38494565, | 5321 "position": 38494565, |
4759 "alleles": [ | 5324 "alleles": [ |
4760 "c.6488G\u003eA" | 5325 "c.6488G\u003eA" |
4761 ], | 5326 ], |
4762 "phased": false, | 5327 "phased": false, |
4763 "wildtypeAllele": "G", | 5328 "wildtypeAllele": "G", |
4764 "mismatch": false | 5329 "mismatch": false, |
5330 "warnings": [] | |
4765 }, | 5331 }, |
4766 { | 5332 { |
4767 "gene": "RYR1", | 5333 "gene": "RYR1", |
4768 "chromosome": "chr19", | 5334 "chromosome": "chr19", |
4769 "position": 38494579, | 5335 "position": 38494579, |
4772 "alleles": [ | 5338 "alleles": [ |
4773 "c.6502G\u003eA" | 5339 "c.6502G\u003eA" |
4774 ], | 5340 ], |
4775 "phased": false, | 5341 "phased": false, |
4776 "wildtypeAllele": "G", | 5342 "wildtypeAllele": "G", |
4777 "mismatch": false | 5343 "mismatch": false, |
5344 "warnings": [] | |
4778 }, | 5345 }, |
4779 { | 5346 { |
4780 "gene": "RYR1", | 5347 "gene": "RYR1", |
4781 "chromosome": "chr19", | 5348 "chromosome": "chr19", |
4782 "position": 38496283, | 5349 "position": 38496283, |
4786 "c.6617C\u003eG", | 5353 "c.6617C\u003eG", |
4787 "c.6617C\u003eT" | 5354 "c.6617C\u003eT" |
4788 ], | 5355 ], |
4789 "phased": false, | 5356 "phased": false, |
4790 "wildtypeAllele": "C", | 5357 "wildtypeAllele": "C", |
4791 "mismatch": false | 5358 "mismatch": false, |
5359 "warnings": [] | |
4792 }, | 5360 }, |
4793 { | 5361 { |
4794 "gene": "RYR1", | 5362 "gene": "RYR1", |
4795 "chromosome": "chr19", | 5363 "chromosome": "chr19", |
4796 "position": 38499223, | 5364 "position": 38499223, |
4799 "alleles": [ | 5367 "alleles": [ |
4800 "c.7007G\u003eA" | 5368 "c.7007G\u003eA" |
4801 ], | 5369 ], |
4802 "phased": false, | 5370 "phased": false, |
4803 "wildtypeAllele": "G", | 5371 "wildtypeAllele": "G", |
4804 "mismatch": false | 5372 "mismatch": false, |
5373 "warnings": [] | |
4805 }, | 5374 }, |
4806 { | 5375 { |
4807 "gene": "RYR1", | 5376 "gene": "RYR1", |
4808 "chromosome": "chr19", | 5377 "chromosome": "chr19", |
4809 "position": 38499644, | 5378 "position": 38499644, |
4812 "alleles": [ | 5381 "alleles": [ |
4813 "c.7042_7044delGAG" | 5382 "c.7042_7044delGAG" |
4814 ], | 5383 ], |
4815 "phased": false, | 5384 "phased": false, |
4816 "wildtypeAllele": "TGGA", | 5385 "wildtypeAllele": "TGGA", |
4817 "mismatch": false | 5386 "mismatch": false, |
5387 "warnings": [] | |
4818 }, | 5388 }, |
4819 { | 5389 { |
4820 "gene": "RYR1", | 5390 "gene": "RYR1", |
4821 "chromosome": "chr19", | 5391 "chromosome": "chr19", |
4822 "position": 38499655, | 5392 "position": 38499655, |
4825 "alleles": [ | 5395 "alleles": [ |
4826 "c.7048G\u003eA" | 5396 "c.7048G\u003eA" |
4827 ], | 5397 ], |
4828 "phased": false, | 5398 "phased": false, |
4829 "wildtypeAllele": "G", | 5399 "wildtypeAllele": "G", |
4830 "mismatch": false | 5400 "mismatch": false, |
5401 "warnings": [] | |
4831 }, | 5402 }, |
4832 { | 5403 { |
4833 "gene": "RYR1", | 5404 "gene": "RYR1", |
4834 "chromosome": "chr19", | 5405 "chromosome": "chr19", |
4835 "position": 38499670, | 5406 "position": 38499670, |
4838 "alleles": [ | 5409 "alleles": [ |
4839 "c.7063C\u003eT" | 5410 "c.7063C\u003eT" |
4840 ], | 5411 ], |
4841 "phased": false, | 5412 "phased": false, |
4842 "wildtypeAllele": "C", | 5413 "wildtypeAllele": "C", |
4843 "mismatch": false | 5414 "mismatch": false, |
5415 "warnings": [] | |
4844 }, | 5416 }, |
4845 { | 5417 { |
4846 "gene": "RYR1", | 5418 "gene": "RYR1", |
4847 "chromosome": "chr19", | 5419 "chromosome": "chr19", |
4848 "position": 38499731, | 5420 "position": 38499731, |
4851 "alleles": [ | 5423 "alleles": [ |
4852 "c.7124G\u003eC" | 5424 "c.7124G\u003eC" |
4853 ], | 5425 ], |
4854 "phased": false, | 5426 "phased": false, |
4855 "wildtypeAllele": "G", | 5427 "wildtypeAllele": "G", |
4856 "mismatch": false | 5428 "mismatch": false, |
5429 "warnings": [] | |
4857 }, | 5430 }, |
4858 { | 5431 { |
4859 "gene": "RYR1", | 5432 "gene": "RYR1", |
4860 "chromosome": "chr19", | 5433 "chromosome": "chr19", |
4861 "position": 38499975, | 5434 "position": 38499975, |
4864 "alleles": [ | 5437 "alleles": [ |
4865 "c.7282G\u003eA" | 5438 "c.7282G\u003eA" |
4866 ], | 5439 ], |
4867 "phased": false, | 5440 "phased": false, |
4868 "wildtypeAllele": "G", | 5441 "wildtypeAllele": "G", |
4869 "mismatch": false | 5442 "mismatch": false, |
5443 "warnings": [] | |
4870 }, | 5444 }, |
4871 { | 5445 { |
4872 "gene": "RYR1", | 5446 "gene": "RYR1", |
4873 "chromosome": "chr19", | 5447 "chromosome": "chr19", |
4874 "position": 38499993, | 5448 "position": 38499993, |
4877 "alleles": [ | 5451 "alleles": [ |
4878 "c.7300G\u003eA" | 5452 "c.7300G\u003eA" |
4879 ], | 5453 ], |
4880 "phased": false, | 5454 "phased": false, |
4881 "wildtypeAllele": "G", | 5455 "wildtypeAllele": "G", |
4882 "mismatch": false | 5456 "mismatch": false, |
5457 "warnings": [] | |
4883 }, | 5458 }, |
4884 { | 5459 { |
4885 "gene": "RYR1", | 5460 "gene": "RYR1", |
4886 "chromosome": "chr19", | 5461 "chromosome": "chr19", |
4887 "position": 38499997, | 5462 "position": 38499997, |
4890 "alleles": [ | 5465 "alleles": [ |
4891 "c.7304G\u003eA" | 5466 "c.7304G\u003eA" |
4892 ], | 5467 ], |
4893 "phased": false, | 5468 "phased": false, |
4894 "wildtypeAllele": "G", | 5469 "wildtypeAllele": "G", |
4895 "mismatch": false | 5470 "mismatch": false, |
5471 "warnings": [] | |
4896 }, | 5472 }, |
4897 { | 5473 { |
4898 "gene": "RYR1", | 5474 "gene": "RYR1", |
4899 "chromosome": "chr19", | 5475 "chromosome": "chr19", |
4900 "position": 38500636, | 5476 "position": 38500636, |
4903 "alleles": [ | 5479 "alleles": [ |
4904 "c.7354C\u003eT" | 5480 "c.7354C\u003eT" |
4905 ], | 5481 ], |
4906 "phased": false, | 5482 "phased": false, |
4907 "wildtypeAllele": "C", | 5483 "wildtypeAllele": "C", |
4908 "mismatch": false | 5484 "mismatch": false, |
5485 "warnings": [] | |
4909 }, | 5486 }, |
4910 { | 5487 { |
4911 "gene": "RYR1", | 5488 "gene": "RYR1", |
4912 "chromosome": "chr19", | 5489 "chromosome": "chr19", |
4913 "position": 38500642, | 5490 "position": 38500642, |
4916 "alleles": [ | 5493 "alleles": [ |
4917 "c.7360C\u003eT" | 5494 "c.7360C\u003eT" |
4918 ], | 5495 ], |
4919 "phased": false, | 5496 "phased": false, |
4920 "wildtypeAllele": "C", | 5497 "wildtypeAllele": "C", |
4921 "mismatch": false | 5498 "mismatch": false, |
5499 "warnings": [] | |
4922 }, | 5500 }, |
4923 { | 5501 { |
4924 "gene": "RYR1", | 5502 "gene": "RYR1", |
4925 "chromosome": "chr19", | 5503 "chromosome": "chr19", |
4926 "position": 38500643, | 5504 "position": 38500643, |
4929 "alleles": [ | 5507 "alleles": [ |
4930 "c.7361G\u003eA" | 5508 "c.7361G\u003eA" |
4931 ], | 5509 ], |
4932 "phased": false, | 5510 "phased": false, |
4933 "wildtypeAllele": "G", | 5511 "wildtypeAllele": "G", |
4934 "mismatch": false | 5512 "mismatch": false, |
5513 "warnings": [] | |
4935 }, | 5514 }, |
4936 { | 5515 { |
4937 "gene": "RYR1", | 5516 "gene": "RYR1", |
4938 "chromosome": "chr19", | 5517 "chromosome": "chr19", |
4939 "position": 38500654, | 5518 "position": 38500654, |
4942 "alleles": [ | 5521 "alleles": [ |
4943 "c.7372C\u003eT" | 5522 "c.7372C\u003eT" |
4944 ], | 5523 ], |
4945 "phased": false, | 5524 "phased": false, |
4946 "wildtypeAllele": "C", | 5525 "wildtypeAllele": "C", |
4947 "mismatch": false | 5526 "mismatch": false, |
5527 "warnings": [] | |
4948 }, | 5528 }, |
4949 { | 5529 { |
4950 "gene": "RYR1", | 5530 "gene": "RYR1", |
4951 "chromosome": "chr19", | 5531 "chromosome": "chr19", |
4952 "position": 38500655, | 5532 "position": 38500655, |
4955 "alleles": [ | 5535 "alleles": [ |
4956 "c.7373G\u003eA" | 5536 "c.7373G\u003eA" |
4957 ], | 5537 ], |
4958 "phased": false, | 5538 "phased": false, |
4959 "wildtypeAllele": "G", | 5539 "wildtypeAllele": "G", |
4960 "mismatch": false | 5540 "mismatch": false, |
5541 "warnings": [] | |
4961 }, | 5542 }, |
4962 { | 5543 { |
4963 "gene": "RYR1", | 5544 "gene": "RYR1", |
4964 "chromosome": "chr19", | 5545 "chromosome": "chr19", |
4965 "position": 38500898, | 5546 "position": 38500898, |
4969 "c.7522C\u003eG", | 5550 "c.7522C\u003eG", |
4970 "c.7522C\u003eT" | 5551 "c.7522C\u003eT" |
4971 ], | 5552 ], |
4972 "phased": false, | 5553 "phased": false, |
4973 "wildtypeAllele": "C", | 5554 "wildtypeAllele": "C", |
4974 "mismatch": false | 5555 "mismatch": false, |
5556 "warnings": [] | |
4975 }, | 5557 }, |
4976 { | 5558 { |
4977 "gene": "RYR1", | 5559 "gene": "RYR1", |
4978 "chromosome": "chr19", | 5560 "chromosome": "chr19", |
4979 "position": 38500899, | 5561 "position": 38500899, |
4982 "alleles": [ | 5564 "alleles": [ |
4983 "c.7523G\u003eA" | 5565 "c.7523G\u003eA" |
4984 ], | 5566 ], |
4985 "phased": false, | 5567 "phased": false, |
4986 "wildtypeAllele": "G", | 5568 "wildtypeAllele": "G", |
4987 "mismatch": false | 5569 "mismatch": false, |
5570 "warnings": [] | |
4988 }, | 5571 }, |
4989 { | 5572 { |
4990 "gene": "RYR1", | 5573 "gene": "RYR1", |
4991 "chromosome": "chr19", | 5574 "chromosome": "chr19", |
4992 "position": 38512321, | 5575 "position": 38512321, |
4995 "alleles": [ | 5578 "alleles": [ |
4996 "c.9310G\u003eA" | 5579 "c.9310G\u003eA" |
4997 ], | 5580 ], |
4998 "phased": false, | 5581 "phased": false, |
4999 "wildtypeAllele": "G", | 5582 "wildtypeAllele": "G", |
5000 "mismatch": false | 5583 "mismatch": false, |
5584 "warnings": [] | |
5001 }, | 5585 }, |
5002 { | 5586 { |
5003 "gene": "RYR1", | 5587 "gene": "RYR1", |
5004 "chromosome": "chr19", | 5588 "chromosome": "chr19", |
5005 "position": 38543832, | 5589 "position": 38543832, |
5008 "alleles": [ | 5592 "alleles": [ |
5009 "c.11969G\u003eT" | 5593 "c.11969G\u003eT" |
5010 ], | 5594 ], |
5011 "phased": false, | 5595 "phased": false, |
5012 "wildtypeAllele": "G", | 5596 "wildtypeAllele": "G", |
5013 "mismatch": false | 5597 "mismatch": false, |
5598 "warnings": [] | |
5014 }, | 5599 }, |
5015 { | 5600 { |
5016 "gene": "RYR1", | 5601 "gene": "RYR1", |
5017 "chromosome": "chr19", | 5602 "chromosome": "chr19", |
5018 "position": 38580004, | 5603 "position": 38580004, |
5021 "alleles": [ | 5606 "alleles": [ |
5022 "c.14387A\u003eG" | 5607 "c.14387A\u003eG" |
5023 ], | 5608 ], |
5024 "phased": false, | 5609 "phased": false, |
5025 "wildtypeAllele": "A", | 5610 "wildtypeAllele": "A", |
5026 "mismatch": false | 5611 "mismatch": false, |
5612 "warnings": [] | |
5027 }, | 5613 }, |
5028 { | 5614 { |
5029 "gene": "RYR1", | 5615 "gene": "RYR1", |
5030 "chromosome": "chr19", | 5616 "chromosome": "chr19", |
5031 "position": 38580094, | 5617 "position": 38580094, |
5034 "alleles": [ | 5620 "alleles": [ |
5035 "c.14477C\u003eT" | 5621 "c.14477C\u003eT" |
5036 ], | 5622 ], |
5037 "phased": false, | 5623 "phased": false, |
5038 "wildtypeAllele": "C", | 5624 "wildtypeAllele": "C", |
5039 "mismatch": false | 5625 "mismatch": false, |
5626 "warnings": [] | |
5040 }, | 5627 }, |
5041 { | 5628 { |
5042 "gene": "RYR1", | 5629 "gene": "RYR1", |
5043 "chromosome": "chr19", | 5630 "chromosome": "chr19", |
5044 "position": 38580114, | 5631 "position": 38580114, |
5047 "alleles": [ | 5634 "alleles": [ |
5048 "c.14497C\u003eT" | 5635 "c.14497C\u003eT" |
5049 ], | 5636 ], |
5050 "phased": false, | 5637 "phased": false, |
5051 "wildtypeAllele": "C", | 5638 "wildtypeAllele": "C", |
5052 "mismatch": false | 5639 "mismatch": false, |
5640 "warnings": [] | |
5053 }, | 5641 }, |
5054 { | 5642 { |
5055 "gene": "RYR1", | 5643 "gene": "RYR1", |
5056 "chromosome": "chr19", | 5644 "chromosome": "chr19", |
5057 "position": 38580370, | 5645 "position": 38580370, |
5060 "alleles": [ | 5648 "alleles": [ |
5061 "c.14512C\u003eG" | 5649 "c.14512C\u003eG" |
5062 ], | 5650 ], |
5063 "phased": false, | 5651 "phased": false, |
5064 "wildtypeAllele": "C", | 5652 "wildtypeAllele": "C", |
5065 "mismatch": false | 5653 "mismatch": false, |
5654 "warnings": [] | |
5066 }, | 5655 }, |
5067 { | 5656 { |
5068 "gene": "RYR1", | 5657 "gene": "RYR1", |
5069 "chromosome": "chr19", | 5658 "chromosome": "chr19", |
5070 "position": 38580403, | 5659 "position": 38580403, |
5073 "alleles": [ | 5662 "alleles": [ |
5074 "c.14545G\u003eA" | 5663 "c.14545G\u003eA" |
5075 ], | 5664 ], |
5076 "phased": false, | 5665 "phased": false, |
5077 "wildtypeAllele": "G", | 5666 "wildtypeAllele": "G", |
5078 "mismatch": false | 5667 "mismatch": false, |
5668 "warnings": [] | |
5079 }, | 5669 }, |
5080 { | 5670 { |
5081 "gene": "RYR1", | 5671 "gene": "RYR1", |
5082 "chromosome": "chr19", | 5672 "chromosome": "chr19", |
5083 "position": 38580440, | 5673 "position": 38580440, |
5086 "alleles": [ | 5676 "alleles": [ |
5087 "c.14582G\u003eA" | 5677 "c.14582G\u003eA" |
5088 ], | 5678 ], |
5089 "phased": false, | 5679 "phased": false, |
5090 "wildtypeAllele": "G", | 5680 "wildtypeAllele": "G", |
5091 "mismatch": false | 5681 "mismatch": false, |
5682 "warnings": [] | |
5092 }, | 5683 }, |
5093 { | 5684 { |
5094 "gene": "RYR1", | 5685 "gene": "RYR1", |
5095 "chromosome": "chr19", | 5686 "chromosome": "chr19", |
5096 "position": 38584989, | 5687 "position": 38584989, |
5099 "alleles": [ | 5690 "alleles": [ |
5100 "c.14693T\u003eC" | 5691 "c.14693T\u003eC" |
5101 ], | 5692 ], |
5102 "phased": false, | 5693 "phased": false, |
5103 "wildtypeAllele": "T", | 5694 "wildtypeAllele": "T", |
5104 "mismatch": false | 5695 "mismatch": false, |
5696 "warnings": [] | |
5105 } | 5697 } |
5106 ], | 5698 ], |
5107 "variantsOfInterest": [], | 5699 "variantsOfInterest": [], |
5108 "highlightedVariants": [] | 5700 "highlightedVariants": [] |
5109 }, | 5701 }, |
5132 "name": "*1", | 5724 "name": "*1", |
5133 "function": "Normal function", | 5725 "function": "Normal function", |
5134 "reference": true | 5726 "reference": true |
5135 }, | 5727 }, |
5136 "gene": "SLCO1B1", | 5728 "gene": "SLCO1B1", |
5137 "phenotype": "Normal function", | 5729 "phenotypes": [ |
5730 "Normal Function" | |
5731 ], | |
5138 "variant": null, | 5732 "variant": null, |
5139 "lookupKey": "Normal function", | 5733 "lookupKey": [ |
5734 "Normal Function" | |
5735 ], | |
5140 "label": "*1/*1" | 5736 "label": "*1/*1" |
5141 } | 5737 } |
5142 ], | 5738 ], |
5143 "diplotypes": [ | 5739 "diplotypes": [ |
5144 { | 5740 { |
5153 "name": "*1", | 5749 "name": "*1", |
5154 "function": "Normal function", | 5750 "function": "Normal function", |
5155 "reference": true | 5751 "reference": true |
5156 }, | 5752 }, |
5157 "gene": "SLCO1B1", | 5753 "gene": "SLCO1B1", |
5158 "phenotype": "Normal function", | 5754 "phenotypes": [ |
5755 "Normal Function" | |
5756 ], | |
5159 "variant": null, | 5757 "variant": null, |
5160 "lookupKey": "Normal function", | 5758 "lookupKey": [ |
5759 "Normal Function" | |
5760 ], | |
5161 "label": "*1/*1" | 5761 "label": "*1/*1" |
5162 } | 5762 } |
5163 ], | 5763 ], |
5164 "variants": [ | 5764 "variants": [ |
5165 { | 5765 { |
5171 "alleles": [ | 5771 "alleles": [ |
5172 "*33" | 5772 "*33" |
5173 ], | 5773 ], |
5174 "phased": false, | 5774 "phased": false, |
5175 "wildtypeAllele": "C", | 5775 "wildtypeAllele": "C", |
5176 "mismatch": false | 5776 "mismatch": false, |
5777 "warnings": [] | |
5177 }, | 5778 }, |
5178 { | 5779 { |
5179 "gene": "SLCO1B1", | 5780 "gene": "SLCO1B1", |
5180 "chromosome": "chr12", | 5781 "chromosome": "chr12", |
5181 "position": 21172776, | 5782 "position": 21172776, |
5184 "alleles": [ | 5785 "alleles": [ |
5185 "*23" | 5786 "*23" |
5186 ], | 5787 ], |
5187 "phased": false, | 5788 "phased": false, |
5188 "wildtypeAllele": "G", | 5789 "wildtypeAllele": "G", |
5189 "mismatch": false | 5790 "mismatch": false, |
5791 "warnings": [] | |
5190 }, | 5792 }, |
5191 { | 5793 { |
5192 "gene": "SLCO1B1", | 5794 "gene": "SLCO1B1", |
5193 "chromosome": "chr12", | 5795 "chromosome": "chr12", |
5194 "position": 21172782, | 5796 "position": 21172782, |
5198 "*2", | 5800 "*2", |
5199 "*12" | 5801 "*12" |
5200 ], | 5802 ], |
5201 "phased": false, | 5803 "phased": false, |
5202 "wildtypeAllele": "T", | 5804 "wildtypeAllele": "T", |
5203 "mismatch": false | 5805 "mismatch": false, |
5806 "warnings": [] | |
5204 }, | 5807 }, |
5205 { | 5808 { |
5206 "gene": "SLCO1B1", | 5809 "gene": "SLCO1B1", |
5207 "chromosome": "chr12", | 5810 "chromosome": "chr12", |
5208 "position": 21174595, | 5811 "position": 21174595, |
5212 "*3", | 5815 "*3", |
5213 "*13" | 5816 "*13" |
5214 ], | 5817 ], |
5215 "phased": false, | 5818 "phased": false, |
5216 "wildtypeAllele": "T", | 5819 "wildtypeAllele": "T", |
5217 "mismatch": false | 5820 "mismatch": false, |
5821 "warnings": [] | |
5218 }, | 5822 }, |
5219 { | 5823 { |
5220 "gene": "SLCO1B1", | 5824 "gene": "SLCO1B1", |
5221 "chromosome": "chr12", | 5825 "chromosome": "chr12", |
5222 "position": 21176804, | 5826 "position": 21176804, |
5243 "*46", | 5847 "*46", |
5244 "*47" | 5848 "*47" |
5245 ], | 5849 ], |
5246 "phased": false, | 5850 "phased": false, |
5247 "wildtypeAllele": "A", | 5851 "wildtypeAllele": "A", |
5248 "mismatch": false | 5852 "mismatch": false, |
5853 "warnings": [] | |
5249 }, | 5854 }, |
5250 { | 5855 { |
5251 "gene": "SLCO1B1", | 5856 "gene": "SLCO1B1", |
5252 "chromosome": "chr12", | 5857 "chromosome": "chr12", |
5253 "position": 21176868, | 5858 "position": 21176868, |
5256 "alleles": [ | 5861 "alleles": [ |
5257 "*16" | 5862 "*16" |
5258 ], | 5863 ], |
5259 "phased": false, | 5864 "phased": false, |
5260 "wildtypeAllele": "A", | 5865 "wildtypeAllele": "A", |
5261 "mismatch": false | 5866 "mismatch": false, |
5867 "warnings": [] | |
5262 }, | 5868 }, |
5263 { | 5869 { |
5264 "gene": "SLCO1B1", | 5870 "gene": "SLCO1B1", |
5265 "chromosome": "chr12", | 5871 "chromosome": "chr12", |
5266 "position": 21176879, | 5872 "position": 21176879, |
5273 "*32", | 5879 "*32", |
5274 "*43" | 5880 "*43" |
5275 ], | 5881 ], |
5276 "phased": false, | 5882 "phased": false, |
5277 "wildtypeAllele": "C", | 5883 "wildtypeAllele": "C", |
5278 "mismatch": false | 5884 "mismatch": false, |
5885 "warnings": [] | |
5279 }, | 5886 }, |
5280 { | 5887 { |
5281 "gene": "SLCO1B1", | 5888 "gene": "SLCO1B1", |
5282 "chromosome": "chr12", | 5889 "chromosome": "chr12", |
5283 "position": 21176883, | 5890 "position": 21176883, |
5287 "*3", | 5894 "*3", |
5288 "*13" | 5895 "*13" |
5289 ], | 5896 ], |
5290 "phased": false, | 5897 "phased": false, |
5291 "wildtypeAllele": "A", | 5898 "wildtypeAllele": "A", |
5292 "mismatch": false | 5899 "mismatch": false, |
5900 "warnings": [] | |
5293 }, | 5901 }, |
5294 { | 5902 { |
5295 "gene": "SLCO1B1", | 5903 "gene": "SLCO1B1", |
5296 "chromosome": "chr12", | 5904 "chromosome": "chr12", |
5297 "position": 21178615, | 5905 "position": 21178615, |
5304 "*46", | 5912 "*46", |
5305 "*47" | 5913 "*47" |
5306 ], | 5914 ], |
5307 "phased": false, | 5915 "phased": false, |
5308 "wildtypeAllele": "T", | 5916 "wildtypeAllele": "T", |
5309 "mismatch": false | 5917 "mismatch": false, |
5918 "warnings": [] | |
5310 }, | 5919 }, |
5311 { | 5920 { |
5312 "gene": "SLCO1B1", | 5921 "gene": "SLCO1B1", |
5313 "chromosome": "chr12", | 5922 "chromosome": "chr12", |
5314 "position": 21178957, | 5923 "position": 21178957, |
5317 "alleles": [ | 5926 "alleles": [ |
5318 "*30" | 5927 "*30" |
5319 ], | 5928 ], |
5320 "phased": false, | 5929 "phased": false, |
5321 "wildtypeAllele": "A", | 5930 "wildtypeAllele": "A", |
5322 "mismatch": false | 5931 "mismatch": false, |
5932 "warnings": [] | |
5323 }, | 5933 }, |
5324 { | 5934 { |
5325 "gene": "SLCO1B1", | 5935 "gene": "SLCO1B1", |
5326 "chromosome": "chr12", | 5936 "chromosome": "chr12", |
5327 "position": 21196951, | 5937 "position": 21196951, |
5336 "*43", | 5946 "*43", |
5337 "*44" | 5947 "*44" |
5338 ], | 5948 ], |
5339 "phased": false, | 5949 "phased": false, |
5340 "wildtypeAllele": "A", | 5950 "wildtypeAllele": "A", |
5341 "mismatch": false | 5951 "mismatch": false, |
5952 "warnings": [] | |
5342 }, | 5953 }, |
5343 { | 5954 { |
5344 "gene": "SLCO1B1", | 5955 "gene": "SLCO1B1", |
5345 "chromosome": "chr12", | 5956 "chromosome": "chr12", |
5346 "position": 21196976, | 5957 "position": 21196976, |
5351 "*28", | 5962 "*28", |
5352 "*33" | 5963 "*33" |
5353 ], | 5964 ], |
5354 "phased": false, | 5965 "phased": false, |
5355 "wildtypeAllele": "G", | 5966 "wildtypeAllele": "G", |
5356 "mismatch": false | 5967 "mismatch": false, |
5968 "warnings": [] | |
5357 }, | 5969 }, |
5358 { | 5970 { |
5359 "gene": "SLCO1B1", | 5971 "gene": "SLCO1B1", |
5360 "chromosome": "chr12", | 5972 "chromosome": "chr12", |
5361 "position": 21200595, | 5973 "position": 21200595, |
5364 "alleles": [ | 5976 "alleles": [ |
5365 "*6" | 5977 "*6" |
5366 ], | 5978 ], |
5367 "phased": false, | 5979 "phased": false, |
5368 "wildtypeAllele": "T", | 5980 "wildtypeAllele": "T", |
5369 "mismatch": false | 5981 "mismatch": false, |
5982 "warnings": [] | |
5370 }, | 5983 }, |
5371 { | 5984 { |
5372 "gene": "SLCO1B1", | 5985 "gene": "SLCO1B1", |
5373 "chromosome": "chr12", | 5986 "chromosome": "chr12", |
5374 "position": 21202553, | 5987 "position": 21202553, |
5377 "alleles": [ | 5990 "alleles": [ |
5378 "*36" | 5991 "*36" |
5379 ], | 5992 ], |
5380 "phased": false, | 5993 "phased": false, |
5381 "wildtypeAllele": "T", | 5994 "wildtypeAllele": "T", |
5382 "mismatch": false | 5995 "mismatch": false, |
5996 "warnings": [] | |
5383 }, | 5997 }, |
5384 { | 5998 { |
5385 "gene": "SLCO1B1", | 5999 "gene": "SLCO1B1", |
5386 "chromosome": "chr12", | 6000 "chromosome": "chr12", |
5387 "position": 21202555, | 6001 "position": 21202555, |
5390 "alleles": [ | 6004 "alleles": [ |
5391 "*27" | 6005 "*27" |
5392 ], | 6006 ], |
5393 "phased": false, | 6007 "phased": false, |
5394 "wildtypeAllele": "C", | 6008 "wildtypeAllele": "C", |
5395 "mismatch": false | 6009 "mismatch": false, |
6010 "warnings": [] | |
5396 }, | 6011 }, |
5397 { | 6012 { |
5398 "gene": "SLCO1B1", | 6013 "gene": "SLCO1B1", |
5399 "chromosome": "chr12", | 6014 "chromosome": "chr12", |
5400 "position": 21202649, | 6015 "position": 21202649, |
5403 "alleles": [ | 6018 "alleles": [ |
5404 "*7" | 6019 "*7" |
5405 ], | 6020 ], |
5406 "phased": false, | 6021 "phased": false, |
5407 "wildtypeAllele": "A", | 6022 "wildtypeAllele": "A", |
5408 "mismatch": false | 6023 "mismatch": false, |
6024 "warnings": [] | |
5409 }, | 6025 }, |
5410 { | 6026 { |
5411 "gene": "SLCO1B1", | 6027 "gene": "SLCO1B1", |
5412 "chromosome": "chr12", | 6028 "chromosome": "chr12", |
5413 "position": 21202664, | 6029 "position": 21202664, |
5416 "alleles": [ | 6032 "alleles": [ |
5417 "*26" | 6033 "*26" |
5418 ], | 6034 ], |
5419 "phased": false, | 6035 "phased": false, |
5420 "wildtypeAllele": "G", | 6036 "wildtypeAllele": "G", |
5421 "mismatch": false | 6037 "mismatch": false, |
6038 "warnings": [] | |
5422 }, | 6039 }, |
5423 { | 6040 { |
5424 "gene": "SLCO1B1", | 6041 "gene": "SLCO1B1", |
5425 "chromosome": "chr12", | 6042 "chromosome": "chr12", |
5426 "position": 21205921, | 6043 "position": 21205921, |
5429 "alleles": [ | 6046 "alleles": [ |
5430 "*8" | 6047 "*8" |
5431 ], | 6048 ], |
5432 "phased": false, | 6049 "phased": false, |
5433 "wildtypeAllele": "A", | 6050 "wildtypeAllele": "A", |
5434 "mismatch": false | 6051 "mismatch": false, |
6052 "warnings": [] | |
5435 }, | 6053 }, |
5436 { | 6054 { |
5437 "gene": "SLCO1B1", | 6055 "gene": "SLCO1B1", |
5438 "chromosome": "chr12", | 6056 "chromosome": "chr12", |
5439 "position": 21205999, | 6057 "position": 21205999, |
5443 "*9", | 6061 "*9", |
5444 "*31" | 6062 "*31" |
5445 ], | 6063 ], |
5446 "phased": false, | 6064 "phased": false, |
5447 "wildtypeAllele": "G", | 6065 "wildtypeAllele": "G", |
5448 "mismatch": false | 6066 "mismatch": false, |
6067 "warnings": [] | |
5449 }, | 6068 }, |
5450 { | 6069 { |
5451 "gene": "SLCO1B1", | 6070 "gene": "SLCO1B1", |
5452 "chromosome": "chr12", | 6071 "chromosome": "chr12", |
5453 "position": 21239042, | 6072 "position": 21239042, |
5458 "*20", | 6077 "*20", |
5459 "*40" | 6078 "*40" |
5460 ], | 6079 ], |
5461 "phased": false, | 6080 "phased": false, |
5462 "wildtypeAllele": "A", | 6081 "wildtypeAllele": "A", |
5463 "mismatch": false | 6082 "mismatch": false, |
6083 "warnings": [] | |
5464 }, | 6084 }, |
5465 { | 6085 { |
5466 "gene": "SLCO1B1", | 6086 "gene": "SLCO1B1", |
5467 "chromosome": "chr12", | 6087 "chromosome": "chr12", |
5468 "position": 21239077, | 6088 "position": 21239077, |
5472 "*10", | 6092 "*10", |
5473 "*12" | 6093 "*12" |
5474 ], | 6094 ], |
5475 "phased": false, | 6095 "phased": false, |
5476 "wildtypeAllele": "A", | 6096 "wildtypeAllele": "A", |
5477 "mismatch": false | 6097 "mismatch": false, |
6098 "warnings": [] | |
5478 }, | 6099 }, |
5479 { | 6100 { |
5480 "gene": "SLCO1B1", | 6101 "gene": "SLCO1B1", |
5481 "chromosome": "chr12", | 6102 "chromosome": "chr12", |
5482 "position": 21239113, | 6103 "position": 21239113, |
5486 "*11", | 6107 "*11", |
5487 "*13" | 6108 "*13" |
5488 ], | 6109 ], |
5489 "phased": false, | 6110 "phased": false, |
5490 "wildtypeAllele": "A", | 6111 "wildtypeAllele": "A", |
5491 "mismatch": false | 6112 "mismatch": false, |
6113 "warnings": [] | |
5492 }, | 6114 }, |
5493 { | 6115 { |
5494 "gene": "SLCO1B1", | 6116 "gene": "SLCO1B1", |
5495 "chromosome": "chr12", | 6117 "chromosome": "chr12", |
5496 "position": 21239145, | 6118 "position": 21239145, |
5499 "alleles": [ | 6121 "alleles": [ |
5500 "*34" | 6122 "*34" |
5501 ], | 6123 ], |
5502 "phased": false, | 6124 "phased": false, |
5503 "wildtypeAllele": "C", | 6125 "wildtypeAllele": "C", |
5504 "mismatch": false | 6126 "mismatch": false, |
6127 "warnings": [] | |
5505 }, | 6128 }, |
5506 { | 6129 { |
5507 "gene": "SLCO1B1", | 6130 "gene": "SLCO1B1", |
5508 "chromosome": "chr12", | 6131 "chromosome": "chr12", |
5509 "position": 21239158, | 6132 "position": 21239158, |
5512 "alleles": [ | 6135 "alleles": [ |
5513 "*29" | 6136 "*29" |
5514 ], | 6137 ], |
5515 "phased": false, | 6138 "phased": false, |
5516 "wildtypeAllele": "C", | 6139 "wildtypeAllele": "C", |
5517 "mismatch": false | 6140 "mismatch": false, |
6141 "warnings": [] | |
5518 }, | 6142 }, |
5519 { | 6143 { |
5520 "gene": "SLCO1B1", | 6144 "gene": "SLCO1B1", |
5521 "chromosome": "chr12", | 6145 "chromosome": "chr12", |
5522 "position": 21176871, | 6146 "position": 21176871, |
5525 "alleles": [ | 6149 "alleles": [ |
5526 "*38" | 6150 "*38" |
5527 ], | 6151 ], |
5528 "phased": false, | 6152 "phased": false, |
5529 "wildtypeAllele": "G", | 6153 "wildtypeAllele": "G", |
5530 "mismatch": false | 6154 "mismatch": false, |
6155 "warnings": [] | |
5531 }, | 6156 }, |
5532 { | 6157 { |
5533 "gene": "SLCO1B1", | 6158 "gene": "SLCO1B1", |
5534 "chromosome": "chr12", | 6159 "chromosome": "chr12", |
5535 "position": 21176898, | 6160 "position": 21176898, |
5538 "alleles": [ | 6163 "alleles": [ |
5539 "*41" | 6164 "*41" |
5540 ], | 6165 ], |
5541 "phased": false, | 6166 "phased": false, |
5542 "wildtypeAllele": "G", | 6167 "wildtypeAllele": "G", |
5543 "mismatch": false | 6168 "mismatch": false, |
6169 "warnings": [] | |
5544 }, | 6170 }, |
5545 { | 6171 { |
5546 "gene": "SLCO1B1", | 6172 "gene": "SLCO1B1", |
5547 "chromosome": "chr12", | 6173 "chromosome": "chr12", |
5548 "position": 21178612, | 6174 "position": 21178612, |
5551 "alleles": [ | 6177 "alleles": [ |
5552 "*42" | 6178 "*42" |
5553 ], | 6179 ], |
5554 "phased": false, | 6180 "phased": false, |
5555 "wildtypeAllele": "A", | 6181 "wildtypeAllele": "A", |
5556 "mismatch": false | 6182 "mismatch": false, |
6183 "warnings": [] | |
5557 }, | 6184 }, |
5558 { | 6185 { |
5559 "gene": "SLCO1B1", | 6186 "gene": "SLCO1B1", |
5560 "chromosome": "chr12", | 6187 "chromosome": "chr12", |
5561 "position": 21196975, | 6188 "position": 21196975, |
5564 "alleles": [ | 6191 "alleles": [ |
5565 "*39" | 6192 "*39" |
5566 ], | 6193 ], |
5567 "phased": false, | 6194 "phased": false, |
5568 "wildtypeAllele": "C", | 6195 "wildtypeAllele": "C", |
5569 "mismatch": false | 6196 "mismatch": false, |
6197 "warnings": [] | |
5570 }, | 6198 }, |
5571 { | 6199 { |
5572 "gene": "SLCO1B1", | 6200 "gene": "SLCO1B1", |
5573 "chromosome": "chr12", | 6201 "chromosome": "chr12", |
5574 "position": 21200544, | 6202 "position": 21200544, |
5577 "alleles": [ | 6205 "alleles": [ |
5578 "*47" | 6206 "*47" |
5579 ], | 6207 ], |
5580 "phased": false, | 6208 "phased": false, |
5581 "wildtypeAllele": "C", | 6209 "wildtypeAllele": "C", |
5582 "mismatch": false | 6210 "mismatch": false, |
6211 "warnings": [] | |
5583 }, | 6212 }, |
5584 { | 6213 { |
5585 "gene": "SLCO1B1", | 6214 "gene": "SLCO1B1", |
5586 "chromosome": "chr12", | 6215 "chromosome": "chr12", |
5587 "position": 21206031, | 6216 "position": 21206031, |
5591 "*43", | 6220 "*43", |
5592 "*44" | 6221 "*44" |
5593 ], | 6222 ], |
5594 "phased": false, | 6223 "phased": false, |
5595 "wildtypeAllele": "A", | 6224 "wildtypeAllele": "A", |
5596 "mismatch": false | 6225 "mismatch": false, |
6226 "warnings": [] | |
5597 }, | 6227 }, |
5598 { | 6228 { |
5599 "gene": "SLCO1B1", | 6229 "gene": "SLCO1B1", |
5600 "chromosome": "chr12", | 6230 "chromosome": "chr12", |
5601 "position": 21222355, | 6231 "position": 21222355, |
5605 "*45", | 6235 "*45", |
5606 "*46" | 6236 "*46" |
5607 ], | 6237 ], |
5608 "phased": false, | 6238 "phased": false, |
5609 "wildtypeAllele": "C", | 6239 "wildtypeAllele": "C", |
5610 "mismatch": false | 6240 "mismatch": false, |
6241 "warnings": [] | |
5611 } | 6242 } |
5612 ], | 6243 ], |
5613 "variantsOfInterest": [], | 6244 "variantsOfInterest": [], |
5614 "highlightedVariants": [ | 6245 "highlightedVariants": [ |
5615 "rs4149056T/rs4149056T" | 6246 "rs4149056T/rs4149056T" |
5652 "name": "*1", | 6283 "name": "*1", |
5653 "function": "Normal Function", | 6284 "function": "Normal Function", |
5654 "reference": true | 6285 "reference": true |
5655 }, | 6286 }, |
5656 "gene": "TPMT", | 6287 "gene": "TPMT", |
5657 "phenotype": "Normal Metabolizer", | 6288 "phenotypes": [ |
6289 "Normal Metabolizer" | |
6290 ], | |
5658 "variant": null, | 6291 "variant": null, |
5659 "lookupKey": "Normal Metabolizer", | 6292 "lookupKey": [ |
6293 "Normal Metabolizer" | |
6294 ], | |
5660 "label": "*1/*1" | 6295 "label": "*1/*1" |
5661 } | 6296 } |
5662 ], | 6297 ], |
5663 "diplotypes": [ | 6298 "diplotypes": [ |
5664 { | 6299 { |
5673 "name": "*1", | 6308 "name": "*1", |
5674 "function": "Normal Function", | 6309 "function": "Normal Function", |
5675 "reference": true | 6310 "reference": true |
5676 }, | 6311 }, |
5677 "gene": "TPMT", | 6312 "gene": "TPMT", |
5678 "phenotype": "Normal Metabolizer", | 6313 "phenotypes": [ |
6314 "Normal Metabolizer" | |
6315 ], | |
5679 "variant": null, | 6316 "variant": null, |
5680 "lookupKey": "Normal Metabolizer", | 6317 "lookupKey": [ |
6318 "Normal Metabolizer" | |
6319 ], | |
5681 "label": "*1/*1" | 6320 "label": "*1/*1" |
5682 } | 6321 } |
5683 ], | 6322 ], |
5684 "variants": [ | 6323 "variants": [ |
5685 { | 6324 { |
5693 "*3C", | 6332 "*3C", |
5694 "*41" | 6333 "*41" |
5695 ], | 6334 ], |
5696 "phased": false, | 6335 "phased": false, |
5697 "wildtypeAllele": "T", | 6336 "wildtypeAllele": "T", |
5698 "mismatch": false | 6337 "mismatch": false, |
6338 "warnings": [] | |
5699 }, | 6339 }, |
5700 { | 6340 { |
5701 "gene": "TPMT", | 6341 "gene": "TPMT", |
5702 "chromosome": "chr6", | 6342 "chromosome": "chr6", |
5703 "position": 18130694, | 6343 "position": 18130694, |
5706 "alleles": [ | 6346 "alleles": [ |
5707 "*20" | 6347 "*20" |
5708 ], | 6348 ], |
5709 "phased": false, | 6349 "phased": false, |
5710 "wildtypeAllele": "T", | 6350 "wildtypeAllele": "T", |
5711 "mismatch": false | 6351 "mismatch": false, |
6352 "warnings": [] | |
5712 }, | 6353 }, |
5713 { | 6354 { |
5714 "gene": "TPMT", | 6355 "gene": "TPMT", |
5715 "chromosome": "chr6", | 6356 "chromosome": "chr6", |
5716 "position": 18130725, | 6357 "position": 18130725, |
5719 "alleles": [ | 6360 "alleles": [ |
5720 "*7" | 6361 "*7" |
5721 ], | 6362 ], |
5722 "phased": false, | 6363 "phased": false, |
5723 "wildtypeAllele": "A", | 6364 "wildtypeAllele": "A", |
5724 "mismatch": false | 6365 "mismatch": false, |
6366 "warnings": [] | |
5725 }, | 6367 }, |
5726 { | 6368 { |
5727 "gene": "TPMT", | 6369 "gene": "TPMT", |
5728 "chromosome": "chr6", | 6370 "chromosome": "chr6", |
5729 "position": 18130729, | 6371 "position": 18130729, |
5732 "alleles": [ | 6374 "alleles": [ |
5733 "*40" | 6375 "*40" |
5734 ], | 6376 ], |
5735 "phased": false, | 6377 "phased": false, |
5736 "wildtypeAllele": "C", | 6378 "wildtypeAllele": "C", |
5737 "mismatch": false | 6379 "mismatch": false, |
6380 "warnings": [] | |
5738 }, | 6381 }, |
5739 { | 6382 { |
5740 "gene": "TPMT", | 6383 "gene": "TPMT", |
5741 "chromosome": "chr6", | 6384 "chromosome": "chr6", |
5742 "position": 18130758, | 6385 "position": 18130758, |
5745 "alleles": [ | 6388 "alleles": [ |
5746 "*37" | 6389 "*37" |
5747 ], | 6390 ], |
5748 "phased": false, | 6391 "phased": false, |
5749 "wildtypeAllele": "A", | 6392 "wildtypeAllele": "A", |
5750 "mismatch": false | 6393 "mismatch": false, |
6394 "warnings": [] | |
5751 }, | 6395 }, |
5752 { | 6396 { |
5753 "gene": "TPMT", | 6397 "gene": "TPMT", |
5754 "chromosome": "chr6", | 6398 "chromosome": "chr6", |
5755 "position": 18130762, | 6399 "position": 18130762, |
5758 "alleles": [ | 6402 "alleles": [ |
5759 "*8" | 6403 "*8" |
5760 ], | 6404 ], |
5761 "phased": false, | 6405 "phased": false, |
5762 "wildtypeAllele": "C", | 6406 "wildtypeAllele": "C", |
5763 "mismatch": false | 6407 "mismatch": false, |
6408 "warnings": [] | |
5764 }, | 6409 }, |
5765 { | 6410 { |
5766 "gene": "TPMT", | 6411 "gene": "TPMT", |
5767 "chromosome": "chr6", | 6412 "chromosome": "chr6", |
5768 "position": 18130772, | 6413 "position": 18130772, |
5771 "alleles": [ | 6416 "alleles": [ |
5772 "*25" | 6417 "*25" |
5773 ], | 6418 ], |
5774 "phased": false, | 6419 "phased": false, |
5775 "wildtypeAllele": "A", | 6420 "wildtypeAllele": "A", |
5776 "mismatch": false | 6421 "mismatch": false, |
6422 "warnings": [] | |
5777 }, | 6423 }, |
5778 { | 6424 { |
5779 "gene": "TPMT", | 6425 "gene": "TPMT", |
5780 "chromosome": "chr6", | 6426 "chromosome": "chr6", |
5781 "position": 18130781, | 6427 "position": 18130781, |
5784 "alleles": [ | 6430 "alleles": [ |
5785 "*4" | 6431 "*4" |
5786 ], | 6432 ], |
5787 "phased": false, | 6433 "phased": false, |
5788 "wildtypeAllele": "C", | 6434 "wildtypeAllele": "C", |
5789 "mismatch": false | 6435 "mismatch": false, |
6436 "warnings": [] | |
5790 }, | 6437 }, |
5791 { | 6438 { |
5792 "gene": "TPMT", | 6439 "gene": "TPMT", |
5793 "chromosome": "chr6", | 6440 "chromosome": "chr6", |
5794 "position": 18132136, | 6441 "position": 18132136, |
5797 "alleles": [ | 6444 "alleles": [ |
5798 "*26" | 6445 "*26" |
5799 ], | 6446 ], |
5800 "phased": false, | 6447 "phased": false, |
5801 "wildtypeAllele": "A", | 6448 "wildtypeAllele": "A", |
5802 "mismatch": false | 6449 "mismatch": false, |
6450 "warnings": [] | |
5803 }, | 6451 }, |
5804 { | 6452 { |
5805 "gene": "TPMT", | 6453 "gene": "TPMT", |
5806 "chromosome": "chr6", | 6454 "chromosome": "chr6", |
5807 "position": 18132147, | 6455 "position": 18132147, |
5810 "alleles": [ | 6458 "alleles": [ |
5811 "*31" | 6459 "*31" |
5812 ], | 6460 ], |
5813 "phased": false, | 6461 "phased": false, |
5814 "wildtypeAllele": "A", | 6462 "wildtypeAllele": "A", |
5815 "mismatch": false | 6463 "mismatch": false, |
6464 "warnings": [] | |
5816 }, | 6465 }, |
5817 { | 6466 { |
5818 "gene": "TPMT", | 6467 "gene": "TPMT", |
5819 "chromosome": "chr6", | 6468 "chromosome": "chr6", |
5820 "position": 18132163, | 6469 "position": 18132163, |
5823 "alleles": [ | 6472 "alleles": [ |
5824 "*36" | 6473 "*36" |
5825 ], | 6474 ], |
5826 "phased": false, | 6475 "phased": false, |
5827 "wildtypeAllele": "C", | 6476 "wildtypeAllele": "C", |
5828 "mismatch": false | 6477 "mismatch": false, |
6478 "warnings": [] | |
5829 }, | 6479 }, |
5830 { | 6480 { |
5831 "gene": "TPMT", | 6481 "gene": "TPMT", |
5832 "chromosome": "chr6", | 6482 "chromosome": "chr6", |
5833 "position": 18133845, | 6483 "position": 18133845, |
5836 "alleles": [ | 6486 "alleles": [ |
5837 "*6" | 6487 "*6" |
5838 ], | 6488 ], |
5839 "phased": false, | 6489 "phased": false, |
5840 "wildtypeAllele": "T", | 6490 "wildtypeAllele": "T", |
5841 "mismatch": false | 6491 "mismatch": false, |
6492 "warnings": [] | |
5842 }, | 6493 }, |
5843 { | 6494 { |
5844 "gene": "TPMT", | 6495 "gene": "TPMT", |
5845 "chromosome": "chr6", | 6496 "chromosome": "chr6", |
5846 "position": 18133847, | 6497 "position": 18133847, |
5849 "alleles": [ | 6500 "alleles": [ |
5850 "*24" | 6501 "*24" |
5851 ], | 6502 ], |
5852 "phased": false, | 6503 "phased": false, |
5853 "wildtypeAllele": "C", | 6504 "wildtypeAllele": "C", |
5854 "mismatch": false | 6505 "mismatch": false, |
6506 "warnings": [] | |
5855 }, | 6507 }, |
5856 { | 6508 { |
5857 "gene": "TPMT", | 6509 "gene": "TPMT", |
5858 "chromosome": "chr6", | 6510 "chromosome": "chr6", |
5859 "position": 18133870, | 6511 "position": 18133870, |
5862 "alleles": [ | 6514 "alleles": [ |
5863 "*38" | 6515 "*38" |
5864 ], | 6516 ], |
5865 "phased": false, | 6517 "phased": false, |
5866 "wildtypeAllele": "A", | 6518 "wildtypeAllele": "A", |
5867 "mismatch": false | 6519 "mismatch": false, |
6520 "warnings": [] | |
5868 }, | 6521 }, |
5869 { | 6522 { |
5870 "gene": "TPMT", | 6523 "gene": "TPMT", |
5871 "chromosome": "chr6", | 6524 "chromosome": "chr6", |
5872 "position": 18133884, | 6525 "position": 18133884, |
5875 "alleles": [ | 6528 "alleles": [ |
5876 "*23" | 6529 "*23" |
5877 ], | 6530 ], |
5878 "phased": false, | 6531 "phased": false, |
5879 "wildtypeAllele": "G", | 6532 "wildtypeAllele": "G", |
5880 "mismatch": false | 6533 "mismatch": false, |
6534 "warnings": [] | |
5881 }, | 6535 }, |
5882 { | 6536 { |
5883 "gene": "TPMT", | 6537 "gene": "TPMT", |
5884 "chromosome": "chr6", | 6538 "chromosome": "chr6", |
5885 "position": 18133887, | 6539 "position": 18133887, |
5888 "alleles": [ | 6542 "alleles": [ |
5889 "*44" | 6543 "*44" |
5890 ], | 6544 ], |
5891 "phased": false, | 6545 "phased": false, |
5892 "wildtypeAllele": "T", | 6546 "wildtypeAllele": "T", |
5893 "mismatch": false | 6547 "mismatch": false, |
6548 "warnings": [] | |
5894 }, | 6549 }, |
5895 { | 6550 { |
5896 "gene": "TPMT", | 6551 "gene": "TPMT", |
5897 "chromosome": "chr6", | 6552 "chromosome": "chr6", |
5898 "position": 18133890, | 6553 "position": 18133890, |
5901 "alleles": [ | 6556 "alleles": [ |
5902 "*15" | 6557 "*15" |
5903 ], | 6558 ], |
5904 "phased": false, | 6559 "phased": false, |
5905 "wildtypeAllele": "C", | 6560 "wildtypeAllele": "C", |
5906 "mismatch": false | 6561 "mismatch": false, |
6562 "warnings": [] | |
5907 }, | 6563 }, |
5908 { | 6564 { |
5909 "gene": "TPMT", | 6565 "gene": "TPMT", |
5910 "chromosome": "chr6", | 6566 "chromosome": "chr6", |
5911 "position": 18138969, | 6567 "position": 18138969, |
5915 "*16", | 6571 "*16", |
5916 "*22" | 6572 "*22" |
5917 ], | 6573 ], |
5918 "phased": false, | 6574 "phased": false, |
5919 "wildtypeAllele": "C", | 6575 "wildtypeAllele": "C", |
5920 "mismatch": false | 6576 "mismatch": false, |
6577 "warnings": [] | |
5921 }, | 6578 }, |
5922 { | 6579 { |
5923 "gene": "TPMT", | 6580 "gene": "TPMT", |
5924 "chromosome": "chr6", | 6581 "chromosome": "chr6", |
5925 "position": 18138970, | 6582 "position": 18138970, |
5928 "alleles": [ | 6585 "alleles": [ |
5929 "*33" | 6586 "*33" |
5930 ], | 6587 ], |
5931 "phased": false, | 6588 "phased": false, |
5932 "wildtypeAllele": "G", | 6589 "wildtypeAllele": "G", |
5933 "mismatch": false | 6590 "mismatch": false, |
6591 "warnings": [] | |
5934 }, | 6592 }, |
5935 { | 6593 { |
5936 "gene": "TPMT", | 6594 "gene": "TPMT", |
5937 "chromosome": "chr6", | 6595 "chromosome": "chr6", |
5938 "position": 18138997, | 6596 "position": 18138997, |
5942 "*3A", | 6600 "*3A", |
5943 "*3B" | 6601 "*3B" |
5944 ], | 6602 ], |
5945 "phased": false, | 6603 "phased": false, |
5946 "wildtypeAllele": "C", | 6604 "wildtypeAllele": "C", |
5947 "mismatch": false | 6605 "mismatch": false, |
6606 "warnings": [] | |
5948 }, | 6607 }, |
5949 { | 6608 { |
5950 "gene": "TPMT", | 6609 "gene": "TPMT", |
5951 "chromosome": "chr6", | 6610 "chromosome": "chr6", |
5952 "position": 18139027, | 6611 "position": 18139027, |
5955 "alleles": [ | 6614 "alleles": [ |
5956 "*10" | 6615 "*10" |
5957 ], | 6616 ], |
5958 "phased": false, | 6617 "phased": false, |
5959 "wildtypeAllele": "C", | 6618 "wildtypeAllele": "C", |
5960 "mismatch": false | 6619 "mismatch": false, |
6620 "warnings": [] | |
5961 }, | 6621 }, |
5962 { | 6622 { |
5963 "gene": "TPMT", | 6623 "gene": "TPMT", |
5964 "chromosome": "chr6", | 6624 "chromosome": "chr6", |
5965 "position": 18139689, | 6625 "position": 18139689, |
5968 "alleles": [ | 6628 "alleles": [ |
5969 "*11" | 6629 "*11" |
5970 ], | 6630 ], |
5971 "phased": false, | 6631 "phased": false, |
5972 "wildtypeAllele": "C", | 6632 "wildtypeAllele": "C", |
5973 "mismatch": false | 6633 "mismatch": false, |
6634 "warnings": [] | |
5974 }, | 6635 }, |
5975 { | 6636 { |
5976 "gene": "TPMT", | 6637 "gene": "TPMT", |
5977 "chromosome": "chr6", | 6638 "chromosome": "chr6", |
5978 "position": 18139710, | 6639 "position": 18139710, |
5981 "alleles": [ | 6642 "alleles": [ |
5982 "*12" | 6643 "*12" |
5983 ], | 6644 ], |
5984 "phased": false, | 6645 "phased": false, |
5985 "wildtypeAllele": "G", | 6646 "wildtypeAllele": "G", |
5986 "mismatch": false | 6647 "mismatch": false, |
6648 "warnings": [] | |
5987 }, | 6649 }, |
5988 { | 6650 { |
5989 "gene": "TPMT", | 6651 "gene": "TPMT", |
5990 "chromosome": "chr6", | 6652 "chromosome": "chr6", |
5991 "position": 18143597, | 6653 "position": 18143597, |
5994 "alleles": [ | 6656 "alleles": [ |
5995 "*19" | 6657 "*19" |
5996 ], | 6658 ], |
5997 "phased": false, | 6659 "phased": false, |
5998 "wildtypeAllele": "T", | 6660 "wildtypeAllele": "T", |
5999 "mismatch": false | 6661 "mismatch": false, |
6662 "warnings": [] | |
6000 }, | 6663 }, |
6001 { | 6664 { |
6002 "gene": "TPMT", | 6665 "gene": "TPMT", |
6003 "chromosome": "chr6", | 6666 "chromosome": "chr6", |
6004 "position": 18143606, | 6667 "position": 18143606, |
6007 "alleles": [ | 6670 "alleles": [ |
6008 "*9" | 6671 "*9" |
6009 ], | 6672 ], |
6010 "phased": false, | 6673 "phased": false, |
6011 "wildtypeAllele": "T", | 6674 "wildtypeAllele": "T", |
6012 "mismatch": false | 6675 "mismatch": false, |
6676 "warnings": [] | |
6013 }, | 6677 }, |
6014 { | 6678 { |
6015 "gene": "TPMT", | 6679 "gene": "TPMT", |
6016 "chromosome": "chr6", | 6680 "chromosome": "chr6", |
6017 "position": 18143613, | 6681 "position": 18143613, |
6020 "alleles": [ | 6684 "alleles": [ |
6021 "*28" | 6685 "*28" |
6022 ], | 6686 ], |
6023 "phased": false, | 6687 "phased": false, |
6024 "wildtypeAllele": "C", | 6688 "wildtypeAllele": "C", |
6025 "mismatch": false | 6689 "mismatch": false, |
6690 "warnings": [] | |
6026 }, | 6691 }, |
6027 { | 6692 { |
6028 "gene": "TPMT", | 6693 "gene": "TPMT", |
6029 "chromosome": "chr6", | 6694 "chromosome": "chr6", |
6030 "position": 18143622, | 6695 "position": 18143622, |
6033 "alleles": [ | 6698 "alleles": [ |
6034 "*32" | 6699 "*32" |
6035 ], | 6700 ], |
6036 "phased": false, | 6701 "phased": false, |
6037 "wildtypeAllele": "C", | 6702 "wildtypeAllele": "C", |
6038 "mismatch": false | 6703 "mismatch": false, |
6704 "warnings": [] | |
6039 }, | 6705 }, |
6040 { | 6706 { |
6041 "gene": "TPMT", | 6707 "gene": "TPMT", |
6042 "chromosome": "chr6", | 6708 "chromosome": "chr6", |
6043 "position": 18143643, | 6709 "position": 18143643, |
6046 "alleles": [ | 6712 "alleles": [ |
6047 "*27" | 6713 "*27" |
6048 ], | 6714 ], |
6049 "phased": false, | 6715 "phased": false, |
6050 "wildtypeAllele": "A", | 6716 "wildtypeAllele": "A", |
6051 "mismatch": false | 6717 "mismatch": false, |
6718 "warnings": [] | |
6052 }, | 6719 }, |
6053 { | 6720 { |
6054 "gene": "TPMT", | 6721 "gene": "TPMT", |
6055 "chromosome": "chr6", | 6722 "chromosome": "chr6", |
6056 "position": 18143700, | 6723 "position": 18143700, |
6059 "alleles": [ | 6726 "alleles": [ |
6060 "*43" | 6727 "*43" |
6061 ], | 6728 ], |
6062 "phased": false, | 6729 "phased": false, |
6063 "wildtypeAllele": "C", | 6730 "wildtypeAllele": "C", |
6064 "mismatch": false | 6731 "mismatch": false, |
6732 "warnings": [] | |
6065 }, | 6733 }, |
6066 { | 6734 { |
6067 "gene": "TPMT", | 6735 "gene": "TPMT", |
6068 "chromosome": "chr6", | 6736 "chromosome": "chr6", |
6069 "position": 18143718, | 6737 "position": 18143718, |
6072 "alleles": [ | 6740 "alleles": [ |
6073 "*34" | 6741 "*34" |
6074 ], | 6742 ], |
6075 "phased": false, | 6743 "phased": false, |
6076 "wildtypeAllele": "G", | 6744 "wildtypeAllele": "G", |
6077 "mismatch": false | 6745 "mismatch": false, |
6746 "warnings": [] | |
6078 }, | 6747 }, |
6079 { | 6748 { |
6080 "gene": "TPMT", | 6749 "gene": "TPMT", |
6081 "chromosome": "chr6", | 6750 "chromosome": "chr6", |
6082 "position": 18143724, | 6751 "position": 18143724, |
6085 "alleles": [ | 6754 "alleles": [ |
6086 "*2" | 6755 "*2" |
6087 ], | 6756 ], |
6088 "phased": false, | 6757 "phased": false, |
6089 "wildtypeAllele": "C", | 6758 "wildtypeAllele": "C", |
6090 "mismatch": false | 6759 "mismatch": false, |
6760 "warnings": [] | |
6091 }, | 6761 }, |
6092 { | 6762 { |
6093 "gene": "TPMT", | 6763 "gene": "TPMT", |
6094 "chromosome": "chr6", | 6764 "chromosome": "chr6", |
6095 "position": 18143728, | 6765 "position": 18143728, |
6098 "alleles": [ | 6768 "alleles": [ |
6099 "*43" | 6769 "*43" |
6100 ], | 6770 ], |
6101 "phased": false, | 6771 "phased": false, |
6102 "wildtypeAllele": "C", | 6772 "wildtypeAllele": "C", |
6103 "mismatch": false | 6773 "mismatch": false, |
6774 "warnings": [] | |
6104 }, | 6775 }, |
6105 { | 6776 { |
6106 "gene": "TPMT", | 6777 "gene": "TPMT", |
6107 "chromosome": "chr6", | 6778 "chromosome": "chr6", |
6108 "position": 18147838, | 6779 "position": 18147838, |
6111 "alleles": [ | 6782 "alleles": [ |
6112 "*39" | 6783 "*39" |
6113 ], | 6784 ], |
6114 "phased": false, | 6785 "phased": false, |
6115 "wildtypeAllele": "G", | 6786 "wildtypeAllele": "G", |
6116 "mismatch": false | 6787 "mismatch": false, |
6788 "warnings": [] | |
6117 }, | 6789 }, |
6118 { | 6790 { |
6119 "gene": "TPMT", | 6791 "gene": "TPMT", |
6120 "chromosome": "chr6", | 6792 "chromosome": "chr6", |
6121 "position": 18147845, | 6793 "position": 18147845, |
6124 "alleles": [ | 6796 "alleles": [ |
6125 "*18" | 6797 "*18" |
6126 ], | 6798 ], |
6127 "phased": false, | 6799 "phased": false, |
6128 "wildtypeAllele": "C", | 6800 "wildtypeAllele": "C", |
6129 "mismatch": false | 6801 "mismatch": false, |
6802 "warnings": [] | |
6130 }, | 6803 }, |
6131 { | 6804 { |
6132 "gene": "TPMT", | 6805 "gene": "TPMT", |
6133 "chromosome": "chr6", | 6806 "chromosome": "chr6", |
6134 "position": 18147851, | 6807 "position": 18147851, |
6137 "alleles": [ | 6810 "alleles": [ |
6138 "*21" | 6811 "*21" |
6139 ], | 6812 ], |
6140 "phased": false, | 6813 "phased": false, |
6141 "wildtypeAllele": "G", | 6814 "wildtypeAllele": "G", |
6142 "mismatch": false | 6815 "mismatch": false, |
6816 "warnings": [] | |
6143 }, | 6817 }, |
6144 { | 6818 { |
6145 "gene": "TPMT", | 6819 "gene": "TPMT", |
6146 "chromosome": "chr6", | 6820 "chromosome": "chr6", |
6147 "position": 18147856, | 6821 "position": 18147856, |
6150 "alleles": [ | 6824 "alleles": [ |
6151 "*35" | 6825 "*35" |
6152 ], | 6826 ], |
6153 "phased": false, | 6827 "phased": false, |
6154 "wildtypeAllele": "A", | 6828 "wildtypeAllele": "A", |
6155 "mismatch": false | 6829 "mismatch": false, |
6830 "warnings": [] | |
6156 }, | 6831 }, |
6157 { | 6832 { |
6158 "gene": "TPMT", | 6833 "gene": "TPMT", |
6159 "chromosome": "chr6", | 6834 "chromosome": "chr6", |
6160 "position": 18147910, | 6835 "position": 18147910, |
6163 "alleles": [ | 6838 "alleles": [ |
6164 "*5" | 6839 "*5" |
6165 ], | 6840 ], |
6166 "phased": false, | 6841 "phased": false, |
6167 "wildtypeAllele": "A", | 6842 "wildtypeAllele": "A", |
6168 "mismatch": false | 6843 "mismatch": false, |
6844 "warnings": [] | |
6169 }, | 6845 }, |
6170 { | 6846 { |
6171 "gene": "TPMT", | 6847 "gene": "TPMT", |
6172 "chromosome": "chr6", | 6848 "chromosome": "chr6", |
6173 "position": 18149004, | 6849 "position": 18149004, |
6176 "alleles": [ | 6852 "alleles": [ |
6177 "*17" | 6853 "*17" |
6178 ], | 6854 ], |
6179 "phased": false, | 6855 "phased": false, |
6180 "wildtypeAllele": "G", | 6856 "wildtypeAllele": "G", |
6181 "mismatch": false | 6857 "mismatch": false, |
6858 "warnings": [] | |
6182 }, | 6859 }, |
6183 { | 6860 { |
6184 "gene": "TPMT", | 6861 "gene": "TPMT", |
6185 "chromosome": "chr6", | 6862 "chromosome": "chr6", |
6186 "position": 18149022, | 6863 "position": 18149022, |
6189 "alleles": [ | 6866 "alleles": [ |
6190 "*30" | 6867 "*30" |
6191 ], | 6868 ], |
6192 "phased": false, | 6869 "phased": false, |
6193 "wildtypeAllele": "C", | 6870 "wildtypeAllele": "C", |
6194 "mismatch": false | 6871 "mismatch": false, |
6872 "warnings": [] | |
6195 }, | 6873 }, |
6196 { | 6874 { |
6197 "gene": "TPMT", | 6875 "gene": "TPMT", |
6198 "chromosome": "chr6", | 6876 "chromosome": "chr6", |
6199 "position": 18149032, | 6877 "position": 18149032, |
6202 "alleles": [ | 6880 "alleles": [ |
6203 "*42" | 6881 "*42" |
6204 ], | 6882 ], |
6205 "phased": false, | 6883 "phased": false, |
6206 "wildtypeAllele": "C", | 6884 "wildtypeAllele": "C", |
6207 "mismatch": false | 6885 "mismatch": false, |
6886 "warnings": [] | |
6208 }, | 6887 }, |
6209 { | 6888 { |
6210 "gene": "TPMT", | 6889 "gene": "TPMT", |
6211 "chromosome": "chr6", | 6890 "chromosome": "chr6", |
6212 "position": 18149045, | 6891 "position": 18149045, |
6215 "alleles": [ | 6894 "alleles": [ |
6216 "*13" | 6895 "*13" |
6217 ], | 6896 ], |
6218 "phased": false, | 6897 "phased": false, |
6219 "wildtypeAllele": "T", | 6898 "wildtypeAllele": "T", |
6220 "mismatch": false | 6899 "mismatch": false, |
6900 "warnings": [] | |
6221 }, | 6901 }, |
6222 { | 6902 { |
6223 "gene": "TPMT", | 6903 "gene": "TPMT", |
6224 "chromosome": "chr6", | 6904 "chromosome": "chr6", |
6225 "position": 18149126, | 6905 "position": 18149126, |
6228 "alleles": [ | 6908 "alleles": [ |
6229 "*29" | 6909 "*29" |
6230 ], | 6910 ], |
6231 "phased": false, | 6911 "phased": false, |
6232 "wildtypeAllele": "A", | 6912 "wildtypeAllele": "A", |
6233 "mismatch": false | 6913 "mismatch": false, |
6914 "warnings": [] | |
6234 }, | 6915 }, |
6235 { | 6916 { |
6236 "gene": "TPMT", | 6917 "gene": "TPMT", |
6237 "chromosome": "chr6", | 6918 "chromosome": "chr6", |
6238 "position": 18149127, | 6919 "position": 18149127, |
6241 "alleles": [ | 6922 "alleles": [ |
6242 "*14" | 6923 "*14" |
6243 ], | 6924 ], |
6244 "phased": false, | 6925 "phased": false, |
6245 "wildtypeAllele": "T", | 6926 "wildtypeAllele": "T", |
6246 "mismatch": false | 6927 "mismatch": false, |
6928 "warnings": [] | |
6247 } | 6929 } |
6248 ], | 6930 ], |
6249 "variantsOfInterest": [], | 6931 "variantsOfInterest": [], |
6250 "highlightedVariants": [] | 6932 "highlightedVariants": [] |
6251 }, | 6933 }, |
6286 "name": "*1", | 6968 "name": "*1", |
6287 "function": "Normal function", | 6969 "function": "Normal function", |
6288 "reference": true | 6970 "reference": true |
6289 }, | 6971 }, |
6290 "gene": "UGT1A1", | 6972 "gene": "UGT1A1", |
6291 "phenotype": "Normal Metabolizer", | 6973 "phenotypes": [ |
6974 "Normal Metabolizer" | |
6975 ], | |
6292 "variant": null, | 6976 "variant": null, |
6293 "lookupKey": "Normal Metabolizer", | 6977 "lookupKey": [ |
6978 "Normal Metabolizer" | |
6979 ], | |
6294 "label": "*1/*1" | 6980 "label": "*1/*1" |
6295 } | 6981 } |
6296 ], | 6982 ], |
6297 "diplotypes": [ | 6983 "diplotypes": [ |
6298 { | 6984 { |
6307 "name": "*1", | 6993 "name": "*1", |
6308 "function": "Normal function", | 6994 "function": "Normal function", |
6309 "reference": true | 6995 "reference": true |
6310 }, | 6996 }, |
6311 "gene": "UGT1A1", | 6997 "gene": "UGT1A1", |
6312 "phenotype": "Normal Metabolizer", | 6998 "phenotypes": [ |
6999 "Normal Metabolizer" | |
7000 ], | |
6313 "variant": null, | 7001 "variant": null, |
6314 "lookupKey": "Normal Metabolizer", | 7002 "lookupKey": [ |
7003 "Normal Metabolizer" | |
7004 ], | |
6315 "label": "*1/*1" | 7005 "label": "*1/*1" |
6316 } | 7006 } |
6317 ], | 7007 ], |
6318 "variants": [ | 7008 "variants": [ |
6319 { | 7009 { |
6327 "*80+*28", | 7017 "*80+*28", |
6328 "*80+*37" | 7018 "*80+*37" |
6329 ], | 7019 ], |
6330 "phased": false, | 7020 "phased": false, |
6331 "wildtypeAllele": "C", | 7021 "wildtypeAllele": "C", |
6332 "mismatch": false | 7022 "mismatch": false, |
7023 "warnings": [] | |
6333 }, | 7024 }, |
6334 { | 7025 { |
6335 "gene": "UGT1A1", | 7026 "gene": "UGT1A1", |
6336 "chromosome": "chr2", | 7027 "chromosome": "chr2", |
6337 "position": 233760233, | 7028 "position": 233760233, |
6344 "*80+*28", | 7035 "*80+*28", |
6345 "*80+*37" | 7036 "*80+*37" |
6346 ], | 7037 ], |
6347 "phased": false, | 7038 "phased": false, |
6348 "wildtypeAllele": "CAT", | 7039 "wildtypeAllele": "CAT", |
6349 "mismatch": false | 7040 "mismatch": false, |
7041 "warnings": [] | |
6350 }, | 7042 }, |
6351 { | 7043 { |
6352 "gene": "UGT1A1", | 7044 "gene": "UGT1A1", |
6353 "chromosome": "chr2", | 7045 "chromosome": "chr2", |
6354 "position": 233760498, | 7046 "position": 233760498, |
6357 "alleles": [ | 7049 "alleles": [ |
6358 "*6" | 7050 "*6" |
6359 ], | 7051 ], |
6360 "phased": false, | 7052 "phased": false, |
6361 "wildtypeAllele": "G", | 7053 "wildtypeAllele": "G", |
6362 "mismatch": false | 7054 "mismatch": false, |
7055 "warnings": [] | |
6363 }, | 7056 }, |
6364 { | 7057 { |
6365 "gene": "UGT1A1", | 7058 "gene": "UGT1A1", |
6366 "chromosome": "chr2", | 7059 "chromosome": "chr2", |
6367 "position": 233760973, | 7060 "position": 233760973, |
6370 "alleles": [ | 7063 "alleles": [ |
6371 "*27" | 7064 "*27" |
6372 ], | 7065 ], |
6373 "phased": false, | 7066 "phased": false, |
6374 "wildtypeAllele": "C", | 7067 "wildtypeAllele": "C", |
6375 "mismatch": false | 7068 "mismatch": false, |
7069 "warnings": [] | |
6376 } | 7070 } |
6377 ], | 7071 ], |
6378 "variantsOfInterest": [], | 7072 "variantsOfInterest": [], |
6379 "highlightedVariants": [] | 7073 "highlightedVariants": [] |
6380 }, | 7074 }, |
6430 "name": "rs9923231 reference (C)", | 7124 "name": "rs9923231 reference (C)", |
6431 "function": null, | 7125 "function": null, |
6432 "reference": true | 7126 "reference": true |
6433 }, | 7127 }, |
6434 "gene": "VKORC1", | 7128 "gene": "VKORC1", |
6435 "phenotype": null, | 7129 "phenotypes": [], |
6436 "variant": null, | 7130 "variant": null, |
6437 "lookupKey": null, | 7131 "lookupKey": [], |
6438 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7132 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
6439 } | 7133 } |
6440 ], | 7134 ], |
6441 "diplotypes": [ | 7135 "diplotypes": [ |
6442 { | 7136 { |
6451 "name": "rs9923231 reference (C)", | 7145 "name": "rs9923231 reference (C)", |
6452 "function": null, | 7146 "function": null, |
6453 "reference": true | 7147 "reference": true |
6454 }, | 7148 }, |
6455 "gene": "VKORC1", | 7149 "gene": "VKORC1", |
6456 "phenotype": null, | 7150 "phenotypes": [], |
6457 "variant": null, | 7151 "variant": null, |
6458 "lookupKey": null, | 7152 "lookupKey": [], |
6459 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7153 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
6460 } | 7154 } |
6461 ], | 7155 ], |
6462 "variants": [ | 7156 "variants": [ |
6463 { | 7157 { |
6469 "alleles": [ | 7163 "alleles": [ |
6470 "rs9923231 variant (T)" | 7164 "rs9923231 variant (T)" |
6471 ], | 7165 ], |
6472 "phased": false, | 7166 "phased": false, |
6473 "wildtypeAllele": "C", | 7167 "wildtypeAllele": "C", |
6474 "mismatch": false | 7168 "mismatch": false, |
7169 "warnings": [] | |
6475 } | 7170 } |
6476 ], | 7171 ], |
6477 "variantsOfInterest": [], | 7172 "variantsOfInterest": [], |
6478 "highlightedVariants": [] | 7173 "highlightedVariants": [] |
6479 } | 7174 } |