Mercurial > repos > bgruening > pharmcat
comparison test-data/test_3.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 |
comparison
equal
deleted
inserted
replaced
0:d67642a21a1d | 1:891283e0ee89 |
---|---|
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": true, | 150 "phased": true, |
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": true, | 164 "phased": true, |
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": true, | 241 "phased": true, |
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": true, | 255 "phased": true, |
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": true, | 269 "phased": true, |
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": true, | 283 "phased": true, |
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": true, | 297 "phased": true, |
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": true, | 311 "phased": true, |
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": true, | 325 "phased": true, |
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": true, | 339 "phased": true, |
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": true, | 353 "phased": true, |
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": true, | 367 "phased": true, |
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": true, | 381 "phased": true, |
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": true, | 395 "phased": true, |
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": true, | 409 "phased": true, |
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": true, | 423 "phased": true, |
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": true, | 437 "phased": true, |
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": true, | 451 "phased": true, |
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": true, | 465 "phased": true, |
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": true, | 479 "phased": true, |
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": true, | 493 "phased": true, |
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": true, | 507 "phased": true, |
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": true, | 521 "phased": true, |
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": true, | 535 "phased": true, |
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": true, | 549 "phased": true, |
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": true, | 563 "phased": true, |
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": true, | 577 "phased": true, |
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": true, | 591 "phased": true, |
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": true, | 605 "phased": true, |
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": true, | 619 "phased": true, |
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": true, | 633 "phased": true, |
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": true, | 647 "phased": true, |
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" |
532 ], | 660 ], |
533 "phased": true, | 661 "phased": true, |
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" |
545 ], | 674 ], |
546 "phased": true, | 675 "phased": true, |
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", |
553 "position": 117614699, | 683 "position": 117614699, |
556 "alleles": [ | 686 "alleles": [ |
557 "D1152H" | 687 "D1152H" |
558 ], | 688 ], |
559 "phased": true, | 689 "phased": true, |
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", |
566 "position": 117639961, | 697 "position": 117639961, |
569 "alleles": [ | 700 "alleles": [ |
570 "3849+10kbC-\u003eT" | 701 "3849+10kbC-\u003eT" |
571 ], | 702 ], |
572 "phased": true, | 703 "phased": true, |
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", |
579 "position": 117642451, | 711 "position": 117642451, |
582 "alleles": [ | 714 "alleles": [ |
583 "G1244E" | 715 "G1244E" |
584 ], | 716 ], |
585 "phased": true, | 717 "phased": true, |
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" |
597 ], | 730 ], |
598 "phased": true, | 731 "phased": true, |
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": true, | 745 "phased": true, |
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" |
623 ], | 758 ], |
624 "phased": true, | 759 "phased": true, |
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" |
636 ], | 772 ], |
637 "phased": true, | 773 "phased": true, |
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": true, | 853 "phased": true, |
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": true, | 867 "phased": true, |
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" |
734 ], | 881 ], |
735 "phased": true, | 882 "phased": true, |
736 "wildtypeAllele": "C", | 883 "wildtypeAllele": "C", |
737 "mismatch": false | 884 "mismatch": false, |
885 "warnings": [] | |
738 }, | 886 }, |
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" |
747 ], | 895 ], |
748 "phased": true, | 896 "phased": true, |
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" |
760 ], | 909 ], |
761 "phased": true, | 910 "phased": true, |
762 "wildtypeAllele": "A", | 911 "wildtypeAllele": "A", |
763 "mismatch": false | 912 "mismatch": false, |
913 "warnings": [] | |
764 }, | 914 }, |
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" |
773 ], | 923 ], |
774 "phased": true, | 924 "phased": true, |
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" |
786 ], | 937 ], |
787 "phased": true, | 938 "phased": true, |
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" |
799 ], | 951 ], |
800 "phased": true, | 952 "phased": true, |
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": [ |
811 "*38" | 964 "*38" |
812 ], | 965 ], |
813 "phased": true, | 966 "phased": true, |
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" |
825 ], | 979 ], |
826 "phased": true, | 980 "phased": true, |
827 "wildtypeAllele": "G", | 981 "wildtypeAllele": "G", |
828 "mismatch": false | 982 "mismatch": false, |
983 "warnings": [] | |
829 }, | 984 }, |
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" |
838 ], | 993 ], |
839 "phased": true, | 994 "phased": true, |
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": true, | 1008 "phased": true, |
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" |
865 ], | 1022 ], |
866 "phased": true, | 1023 "phased": true, |
867 "wildtypeAllele": "A", | 1024 "wildtypeAllele": "A", |
868 "mismatch": false | 1025 "mismatch": false, |
1026 "warnings": [] | |
869 }, | 1027 }, |
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": true, | 1037 "phased": true, |
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": true, | 1051 "phased": true, |
893 "wildtypeAllele": "G", | 1052 "wildtypeAllele": "G", |
894 "mismatch": false | 1053 "mismatch": false, |
1054 "warnings": [] | |
895 }, | 1055 }, |
896 { | 1056 { |
897 "gene": "CYP2B6", | 1057 "gene": "CYP2B6", |
898 "chromosome": "chr19", | 1058 "chromosome": "chr19", |
899 "position": 41006919, | 1059 "position": 41006919, |
902 "alleles": [ | 1062 "alleles": [ |
903 "*26" | 1063 "*26" |
904 ], | 1064 ], |
905 "phased": true, | 1065 "phased": true, |
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" |
917 ], | 1078 ], |
918 "phased": true, | 1079 "phased": true, |
919 "wildtypeAllele": "C", | 1080 "wildtypeAllele": "C", |
920 "mismatch": false | 1081 "mismatch": false, |
1082 "warnings": [] | |
921 }, | 1083 }, |
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": true, | 1103 "phased": true, |
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": true, | 1117 "phased": true, |
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", |
961 "position": 41007013, | 1125 "position": 41007013, |
965 "*27", | 1129 "*27", |
966 "*35" | 1130 "*35" |
967 ], | 1131 ], |
968 "phased": true, | 1132 "phased": true, |
969 "wildtypeAllele": "T", | 1133 "wildtypeAllele": "T", |
970 "mismatch": false | 1134 "mismatch": false, |
1135 "warnings": [] | |
971 }, | 1136 }, |
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": true, | 1146 "phased": true, |
982 "wildtypeAllele": "C", | 1147 "wildtypeAllele": "C", |
983 "mismatch": false | 1148 "mismatch": false, |
1149 "warnings": [] | |
984 }, | 1150 }, |
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" |
1004 ], | 1170 ], |
1005 "phased": true, | 1171 "phased": true, |
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": true, | 1185 "phased": true, |
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": true, | 1199 "phased": true, |
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" |
1043 ], | 1212 ], |
1044 "phased": true, | 1213 "phased": true, |
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": true, | 1227 "phased": true, |
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", |
1064 "position": 41012339, | 1235 "position": 41012339, |
1067 "alleles": [ | 1238 "alleles": [ |
1068 "*19" | 1239 "*19" |
1069 ], | 1240 ], |
1070 "phased": true, | 1241 "phased": true, |
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" |
1082 ], | 1254 ], |
1083 "phased": true, | 1255 "phased": true, |
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": true, | 1269 "phased": true, |
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": true, | 1283 "phased": true, |
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": true, | 1297 "phased": true, |
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": true, | 1311 "phased": true, |
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": true, | 1325 "phased": true, |
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": true, | 1339 "phased": true, |
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": true, | 1356 "phased": true, |
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": true, | 1434 "phased": true, |
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": true, | 1448 "phased": true, |
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": true, | 1462 "phased": true, |
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": true, | 1476 "phased": true, |
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": true, | 1490 "phased": true, |
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" |
1313 ], | 1506 ], |
1314 "phased": true, | 1507 "phased": true, |
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": true, | 1521 "phased": true, |
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": true, | 1535 "phased": true, |
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": true, | 1549 "phased": true, |
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": true, | 1563 "phased": true, |
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": true, | 1577 "phased": true, |
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": true, | 1591 "phased": true, |
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" |
1405 ], | 1605 ], |
1406 "phased": true, | 1606 "phased": true, |
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": true, | 1620 "phased": true, |
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": true, | 1634 "phased": true, |
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": true, | 1648 "phased": true, |
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": true, | 1662 "phased": true, |
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": true, | 1677 "phased": true, |
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": true, | 1691 "phased": true, |
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": true, | 1705 "phased": true, |
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": true, | 1719 "phased": true, |
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": true, | 1733 "phased": true, |
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": true, | 1747 "phased": true, |
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": true, | 1761 "phased": true, |
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": true, | 1775 "phased": true, |
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": true, | 1789 "phased": true, |
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": true, | 1830 "phased": true, |
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": true, | 1844 "phased": true, |
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": true, | 1858 "phased": true, |
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": true, | 1872 "phased": true, |
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": true, | 1886 "phased": true, |
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": true, | 1900 "phased": true, |
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": true, | 1914 "phased": true, |
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": true, | 1928 "phased": true, |
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": true, | 2020 "phased": true, |
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": true, | 2034 "phased": true, |
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": true, | 2048 "phased": true, |
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": true, | 2062 "phased": true, |
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": true, | 2076 "phased": true, |
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": true, | 2090 "phased": true, |
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": true, | 2104 "phased": true, |
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": true, | 2118 "phased": true, |
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": true, | 2132 "phased": true, |
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": true, | 2146 "phased": true, |
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": true, | 2160 "phased": true, |
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": true, | 2174 "phased": true, |
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": true, | 2188 "phased": true, |
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": true, | 2202 "phased": true, |
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": true, | 2216 "phased": true, |
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": true, | 2230 "phased": true, |
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": true, | 2245 "phased": true, |
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": true, | 2260 "phased": true, |
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": true, | 2274 "phased": true, |
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": true, | 2288 "phased": true, |
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": true, | 2304 "phased": true, |
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": true, | 2318 "phased": true, |
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": true, | 2332 "phased": true, |
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": true, | 2347 "phased": true, |
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": true, | 2361 "phased": true, |
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": true, | 2375 "phased": true, |
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": true, | 2389 "phased": true, |
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": true, | 2403 "phased": true, |
2137 "wildtypeAllele": "A", | 2404 "wildtypeAllele": "A", |
2138 "mismatch": false | 2405 "mismatch": false, |
2406 "warnings": [] | |
2139 }, | 2407 }, |
2140 { | 2408 { |
2141 "gene": "CYP2C9", | 2409 "gene": "CYP2C9", |
2142 "chromosome": "chr10", | 2410 "chromosome": "chr10", |
2143 "position": 94947917, | 2411 "position": 94947917, |
2146 "alleles": [ | 2414 "alleles": [ |
2147 "*48" | 2415 "*48" |
2148 ], | 2416 ], |
2149 "phased": true, | 2417 "phased": true, |
2150 "wildtypeAllele": "T", | 2418 "wildtypeAllele": "T", |
2151 "mismatch": false | 2419 "mismatch": false, |
2420 "warnings": [] | |
2152 }, | 2421 }, |
2153 { | 2422 { |
2154 "gene": "CYP2C9", | 2423 "gene": "CYP2C9", |
2155 "chromosome": "chr10", | 2424 "chromosome": "chr10", |
2156 "position": 94947938, | 2425 "position": 94947938, |
2159 "alleles": [ | 2428 "alleles": [ |
2160 "*28" | 2429 "*28" |
2161 ], | 2430 ], |
2162 "phased": true, | 2431 "phased": true, |
2163 "wildtypeAllele": "A", | 2432 "wildtypeAllele": "A", |
2164 "mismatch": false | 2433 "mismatch": false, |
2434 "warnings": [] | |
2165 }, | 2435 }, |
2166 { | 2436 { |
2167 "gene": "CYP2C9", | 2437 "gene": "CYP2C9", |
2168 "chromosome": "chr10", | 2438 "chromosome": "chr10", |
2169 "position": 94949129, | 2439 "position": 94949129, |
2172 "alleles": [ | 2442 "alleles": [ |
2173 "*49" | 2443 "*49" |
2174 ], | 2444 ], |
2175 "phased": true, | 2445 "phased": true, |
2176 "wildtypeAllele": "A", | 2446 "wildtypeAllele": "A", |
2177 "mismatch": false | 2447 "mismatch": false, |
2448 "warnings": [] | |
2178 }, | 2449 }, |
2179 { | 2450 { |
2180 "gene": "CYP2C9", | 2451 "gene": "CYP2C9", |
2181 "chromosome": "chr10", | 2452 "chromosome": "chr10", |
2182 "position": 94949144, | 2453 "position": 94949144, |
2185 "alleles": [ | 2456 "alleles": [ |
2186 "*50" | 2457 "*50" |
2187 ], | 2458 ], |
2188 "phased": true, | 2459 "phased": true, |
2189 "wildtypeAllele": "C", | 2460 "wildtypeAllele": "C", |
2190 "mismatch": false | 2461 "mismatch": false, |
2462 "warnings": [] | |
2191 }, | 2463 }, |
2192 { | 2464 { |
2193 "gene": "CYP2C9", | 2465 "gene": "CYP2C9", |
2194 "chromosome": "chr10", | 2466 "chromosome": "chr10", |
2195 "position": 94949217, | 2467 "position": 94949217, |
2198 "alleles": [ | 2470 "alleles": [ |
2199 "*9" | 2471 "*9" |
2200 ], | 2472 ], |
2201 "phased": true, | 2473 "phased": true, |
2202 "wildtypeAllele": "A", | 2474 "wildtypeAllele": "A", |
2203 "mismatch": false | 2475 "mismatch": false, |
2476 "warnings": [] | |
2204 }, | 2477 }, |
2205 { | 2478 { |
2206 "gene": "CYP2C9", | 2479 "gene": "CYP2C9", |
2207 "chromosome": "chr10", | 2480 "chromosome": "chr10", |
2208 "position": 94949280, | 2481 "position": 94949280, |
2212 "*10", | 2485 "*10", |
2213 "*71" | 2486 "*71" |
2214 ], | 2487 ], |
2215 "phased": true, | 2488 "phased": true, |
2216 "wildtypeAllele": "A", | 2489 "wildtypeAllele": "A", |
2217 "mismatch": false | 2490 "mismatch": false, |
2491 "warnings": [] | |
2218 }, | 2492 }, |
2219 { | 2493 { |
2220 "gene": "CYP2C9", | 2494 "gene": "CYP2C9", |
2221 "chromosome": "chr10", | 2495 "chromosome": "chr10", |
2222 "position": 94949281, | 2496 "position": 94949281, |
2225 "alleles": [ | 2499 "alleles": [ |
2226 "*6" | 2500 "*6" |
2227 ], | 2501 ], |
2228 "phased": true, | 2502 "phased": true, |
2229 "wildtypeAllele": "GA", | 2503 "wildtypeAllele": "GA", |
2230 "mismatch": false | 2504 "mismatch": false, |
2505 "warnings": [] | |
2231 }, | 2506 }, |
2232 { | 2507 { |
2233 "gene": "CYP2C9", | 2508 "gene": "CYP2C9", |
2234 "chromosome": "chr10", | 2509 "chromosome": "chr10", |
2235 "position": 94972119, | 2510 "position": 94972119, |
2238 "alleles": [ | 2513 "alleles": [ |
2239 "*29" | 2514 "*29" |
2240 ], | 2515 ], |
2241 "phased": true, | 2516 "phased": true, |
2242 "wildtypeAllele": "C", | 2517 "wildtypeAllele": "C", |
2243 "mismatch": false | 2518 "mismatch": false, |
2519 "warnings": [] | |
2244 }, | 2520 }, |
2245 { | 2521 { |
2246 "gene": "CYP2C9", | 2522 "gene": "CYP2C9", |
2247 "chromosome": "chr10", | 2523 "chromosome": "chr10", |
2248 "position": 94972123, | 2524 "position": 94972123, |
2251 "alleles": [ | 2527 "alleles": [ |
2252 "*64" | 2528 "*64" |
2253 ], | 2529 ], |
2254 "phased": true, | 2530 "phased": true, |
2255 "wildtypeAllele": "C", | 2531 "wildtypeAllele": "C", |
2256 "mismatch": false | 2532 "mismatch": false, |
2533 "warnings": [] | |
2257 }, | 2534 }, |
2258 { | 2535 { |
2259 "gene": "CYP2C9", | 2536 "gene": "CYP2C9", |
2260 "chromosome": "chr10", | 2537 "chromosome": "chr10", |
2261 "position": 94972134, | 2538 "position": 94972134, |
2264 "alleles": [ | 2541 "alleles": [ |
2265 "*51" | 2542 "*51" |
2266 ], | 2543 ], |
2267 "phased": true, | 2544 "phased": true, |
2268 "wildtypeAllele": "A", | 2545 "wildtypeAllele": "A", |
2269 "mismatch": false | 2546 "mismatch": false, |
2547 "warnings": [] | |
2270 }, | 2548 }, |
2271 { | 2549 { |
2272 "gene": "CYP2C9", | 2550 "gene": "CYP2C9", |
2273 "chromosome": "chr10", | 2551 "chromosome": "chr10", |
2274 "position": 94972179, | 2552 "position": 94972179, |
2277 "alleles": [ | 2555 "alleles": [ |
2278 "*16" | 2556 "*16" |
2279 ], | 2557 ], |
2280 "phased": true, | 2558 "phased": true, |
2281 "wildtypeAllele": "A", | 2559 "wildtypeAllele": "A", |
2282 "mismatch": false | 2560 "mismatch": false, |
2561 "warnings": [] | |
2283 }, | 2562 }, |
2284 { | 2563 { |
2285 "gene": "CYP2C9", | 2564 "gene": "CYP2C9", |
2286 "chromosome": "chr10", | 2565 "chromosome": "chr10", |
2287 "position": 94972180, | 2566 "position": 94972180, |
2290 "alleles": [ | 2569 "alleles": [ |
2291 "*52" | 2570 "*52" |
2292 ], | 2571 ], |
2293 "phased": true, | 2572 "phased": true, |
2294 "wildtypeAllele": "C", | 2573 "wildtypeAllele": "C", |
2295 "mismatch": false | 2574 "mismatch": false, |
2575 "warnings": [] | |
2296 }, | 2576 }, |
2297 { | 2577 { |
2298 "gene": "CYP2C9", | 2578 "gene": "CYP2C9", |
2299 "chromosome": "chr10", | 2579 "chromosome": "chr10", |
2300 "position": 94972233, | 2580 "position": 94972233, |
2303 "alleles": [ | 2583 "alleles": [ |
2304 "*53" | 2584 "*53" |
2305 ], | 2585 ], |
2306 "phased": true, | 2586 "phased": true, |
2307 "wildtypeAllele": "C", | 2587 "wildtypeAllele": "C", |
2308 "mismatch": false | 2588 "mismatch": false, |
2589 "warnings": [] | |
2309 }, | 2590 }, |
2310 { | 2591 { |
2311 "gene": "CYP2C9", | 2592 "gene": "CYP2C9", |
2312 "chromosome": "chr10", | 2593 "chromosome": "chr10", |
2313 "position": 94981199, | 2594 "position": 94981199, |
2316 "alleles": [ | 2597 "alleles": [ |
2317 "*65" | 2598 "*65" |
2318 ], | 2599 ], |
2319 "phased": true, | 2600 "phased": true, |
2320 "wildtypeAllele": "G", | 2601 "wildtypeAllele": "G", |
2321 "mismatch": false | 2602 "mismatch": false, |
2603 "warnings": [] | |
2322 }, | 2604 }, |
2323 { | 2605 { |
2324 "gene": "CYP2C9", | 2606 "gene": "CYP2C9", |
2325 "chromosome": "chr10", | 2607 "chromosome": "chr10", |
2326 "position": 94981201, | 2608 "position": 94981201, |
2329 "alleles": [ | 2611 "alleles": [ |
2330 "*31" | 2612 "*31" |
2331 ], | 2613 ], |
2332 "phased": true, | 2614 "phased": true, |
2333 "wildtypeAllele": "T", | 2615 "wildtypeAllele": "T", |
2334 "mismatch": false | 2616 "mismatch": false, |
2617 "warnings": [] | |
2335 }, | 2618 }, |
2336 { | 2619 { |
2337 "gene": "CYP2C9", | 2620 "gene": "CYP2C9", |
2338 "chromosome": "chr10", | 2621 "chromosome": "chr10", |
2339 "position": 94981224, | 2622 "position": 94981224, |
2342 "alleles": [ | 2625 "alleles": [ |
2343 "*11" | 2626 "*11" |
2344 ], | 2627 ], |
2345 "phased": true, | 2628 "phased": true, |
2346 "wildtypeAllele": "C", | 2629 "wildtypeAllele": "C", |
2347 "mismatch": false | 2630 "mismatch": false, |
2631 "warnings": [] | |
2348 }, | 2632 }, |
2349 { | 2633 { |
2350 "gene": "CYP2C9", | 2634 "gene": "CYP2C9", |
2351 "chromosome": "chr10", | 2635 "chromosome": "chr10", |
2352 "position": 94981225, | 2636 "position": 94981225, |
2355 "alleles": [ | 2639 "alleles": [ |
2356 "*34" | 2640 "*34" |
2357 ], | 2641 ], |
2358 "phased": true, | 2642 "phased": true, |
2359 "wildtypeAllele": "G", | 2643 "wildtypeAllele": "G", |
2360 "mismatch": false | 2644 "mismatch": false, |
2645 "warnings": [] | |
2361 }, | 2646 }, |
2362 { | 2647 { |
2363 "gene": "CYP2C9", | 2648 "gene": "CYP2C9", |
2364 "chromosome": "chr10", | 2649 "chromosome": "chr10", |
2365 "position": 94981230, | 2650 "position": 94981230, |
2368 "alleles": [ | 2653 "alleles": [ |
2369 "*58" | 2654 "*58" |
2370 ], | 2655 ], |
2371 "phased": true, | 2656 "phased": true, |
2372 "wildtypeAllele": "C", | 2657 "wildtypeAllele": "C", |
2373 "mismatch": false | 2658 "mismatch": false, |
2659 "warnings": [] | |
2374 }, | 2660 }, |
2375 { | 2661 { |
2376 "gene": "CYP2C9", | 2662 "gene": "CYP2C9", |
2377 "chromosome": "chr10", | 2663 "chromosome": "chr10", |
2378 "position": 94981250, | 2664 "position": 94981250, |
2381 "alleles": [ | 2667 "alleles": [ |
2382 "*54" | 2668 "*54" |
2383 ], | 2669 ], |
2384 "phased": true, | 2670 "phased": true, |
2385 "wildtypeAllele": "C", | 2671 "wildtypeAllele": "C", |
2386 "mismatch": false | 2672 "mismatch": false, |
2673 "warnings": [] | |
2387 }, | 2674 }, |
2388 { | 2675 { |
2389 "gene": "CYP2C9", | 2676 "gene": "CYP2C9", |
2390 "chromosome": "chr10", | 2677 "chromosome": "chr10", |
2391 "position": 94981281, | 2678 "position": 94981281, |
2394 "alleles": [ | 2681 "alleles": [ |
2395 "*24" | 2682 "*24" |
2396 ], | 2683 ], |
2397 "phased": true, | 2684 "phased": true, |
2398 "wildtypeAllele": "G", | 2685 "wildtypeAllele": "G", |
2399 "mismatch": false | 2686 "mismatch": false, |
2687 "warnings": [] | |
2400 }, | 2688 }, |
2401 { | 2689 { |
2402 "gene": "CYP2C9", | 2690 "gene": "CYP2C9", |
2403 "chromosome": "chr10", | 2691 "chromosome": "chr10", |
2404 "position": 94981296, | 2692 "position": 94981296, |
2409 "*18", | 2697 "*18", |
2410 "*68" | 2698 "*68" |
2411 ], | 2699 ], |
2412 "phased": true, | 2700 "phased": true, |
2413 "wildtypeAllele": "A", | 2701 "wildtypeAllele": "A", |
2414 "mismatch": false | 2702 "mismatch": false, |
2703 "warnings": [] | |
2415 }, | 2704 }, |
2416 { | 2705 { |
2417 "gene": "CYP2C9", | 2706 "gene": "CYP2C9", |
2418 "chromosome": "chr10", | 2707 "chromosome": "chr10", |
2419 "position": 94981297, | 2708 "position": 94981297, |
2422 "alleles": [ | 2711 "alleles": [ |
2423 "*4" | 2712 "*4" |
2424 ], | 2713 ], |
2425 "phased": true, | 2714 "phased": true, |
2426 "wildtypeAllele": "T", | 2715 "wildtypeAllele": "T", |
2427 "mismatch": false | 2716 "mismatch": false, |
2717 "warnings": [] | |
2428 }, | 2718 }, |
2429 { | 2719 { |
2430 "gene": "CYP2C9", | 2720 "gene": "CYP2C9", |
2431 "chromosome": "chr10", | 2721 "chromosome": "chr10", |
2432 "position": 94981301, | 2722 "position": 94981301, |
2435 "alleles": [ | 2725 "alleles": [ |
2436 "*5" | 2726 "*5" |
2437 ], | 2727 ], |
2438 "phased": true, | 2728 "phased": true, |
2439 "wildtypeAllele": "C", | 2729 "wildtypeAllele": "C", |
2440 "mismatch": false | 2730 "mismatch": false, |
2731 "warnings": [] | |
2441 }, | 2732 }, |
2442 { | 2733 { |
2443 "gene": "CYP2C9", | 2734 "gene": "CYP2C9", |
2444 "chromosome": "chr10", | 2735 "chromosome": "chr10", |
2445 "position": 94981302, | 2736 "position": 94981302, |
2448 "alleles": [ | 2739 "alleles": [ |
2449 "*55" | 2740 "*55" |
2450 ], | 2741 ], |
2451 "phased": true, | 2742 "phased": true, |
2452 "wildtypeAllele": "C", | 2743 "wildtypeAllele": "C", |
2453 "mismatch": false | 2744 "mismatch": false, |
2745 "warnings": [] | |
2454 }, | 2746 }, |
2455 { | 2747 { |
2456 "gene": "CYP2C9", | 2748 "gene": "CYP2C9", |
2457 "chromosome": "chr10", | 2749 "chromosome": "chr10", |
2458 "position": 94981305, | 2750 "position": 94981305, |
2461 "alleles": [ | 2753 "alleles": [ |
2462 "*66" | 2754 "*66" |
2463 ], | 2755 ], |
2464 "phased": true, | 2756 "phased": true, |
2465 "wildtypeAllele": "C", | 2757 "wildtypeAllele": "C", |
2466 "mismatch": false | 2758 "mismatch": false, |
2759 "warnings": [] | |
2467 }, | 2760 }, |
2468 { | 2761 { |
2469 "gene": "CYP2C9", | 2762 "gene": "CYP2C9", |
2470 "chromosome": "chr10", | 2763 "chromosome": "chr10", |
2471 "position": 94981365, | 2764 "position": 94981365, |
2474 "alleles": [ | 2767 "alleles": [ |
2475 "*17" | 2768 "*17" |
2476 ], | 2769 ], |
2477 "phased": true, | 2770 "phased": true, |
2478 "wildtypeAllele": "C", | 2771 "wildtypeAllele": "C", |
2479 "mismatch": false | 2772 "mismatch": false, |
2773 "warnings": [] | |
2480 }, | 2774 }, |
2481 { | 2775 { |
2482 "gene": "CYP2C9", | 2776 "gene": "CYP2C9", |
2483 "chromosome": "chr10", | 2777 "chromosome": "chr10", |
2484 "position": 94981371, | 2778 "position": 94981371, |
2487 "alleles": [ | 2781 "alleles": [ |
2488 "*68" | 2782 "*68" |
2489 ], | 2783 ], |
2490 "phased": true, | 2784 "phased": true, |
2491 "wildtypeAllele": "G", | 2785 "wildtypeAllele": "G", |
2492 "mismatch": false | 2786 "mismatch": false, |
2787 "warnings": [] | |
2493 }, | 2788 }, |
2494 { | 2789 { |
2495 "gene": "CYP2C9", | 2790 "gene": "CYP2C9", |
2496 "chromosome": "chr10", | 2791 "chromosome": "chr10", |
2497 "position": 94986042, | 2792 "position": 94986042, |
2500 "alleles": [ | 2795 "alleles": [ |
2501 "*56" | 2796 "*56" |
2502 ], | 2797 ], |
2503 "phased": true, | 2798 "phased": true, |
2504 "wildtypeAllele": "A", | 2799 "wildtypeAllele": "A", |
2505 "mismatch": false | 2800 "mismatch": false, |
2801 "warnings": [] | |
2506 }, | 2802 }, |
2507 { | 2803 { |
2508 "gene": "CYP2C9", | 2804 "gene": "CYP2C9", |
2509 "chromosome": "chr10", | 2805 "chromosome": "chr10", |
2510 "position": 94986073, | 2806 "position": 94986073, |
2513 "alleles": [ | 2809 "alleles": [ |
2514 "*18" | 2810 "*18" |
2515 ], | 2811 ], |
2516 "phased": true, | 2812 "phased": true, |
2517 "wildtypeAllele": "A", | 2813 "wildtypeAllele": "A", |
2518 "mismatch": false | 2814 "mismatch": false, |
2815 "warnings": [] | |
2519 }, | 2816 }, |
2520 { | 2817 { |
2521 "gene": "CYP2C9", | 2818 "gene": "CYP2C9", |
2522 "chromosome": "chr10", | 2819 "chromosome": "chr10", |
2523 "position": 94988852, | 2820 "position": 94988852, |
2526 "alleles": [ | 2823 "alleles": [ |
2527 "*67" | 2824 "*67" |
2528 ], | 2825 ], |
2529 "phased": true, | 2826 "phased": true, |
2530 "wildtypeAllele": "C", | 2827 "wildtypeAllele": "C", |
2531 "mismatch": false | 2828 "mismatch": false, |
2829 "warnings": [] | |
2532 }, | 2830 }, |
2533 { | 2831 { |
2534 "gene": "CYP2C9", | 2832 "gene": "CYP2C9", |
2535 "chromosome": "chr10", | 2833 "chromosome": "chr10", |
2536 "position": 94988855, | 2834 "position": 94988855, |
2539 "alleles": [ | 2837 "alleles": [ |
2540 "*59" | 2838 "*59" |
2541 ], | 2839 ], |
2542 "phased": true, | 2840 "phased": true, |
2543 "wildtypeAllele": "A", | 2841 "wildtypeAllele": "A", |
2544 "mismatch": false | 2842 "mismatch": false, |
2843 "warnings": [] | |
2545 }, | 2844 }, |
2546 { | 2845 { |
2547 "gene": "CYP2C9", | 2846 "gene": "CYP2C9", |
2548 "chromosome": "chr10", | 2847 "chromosome": "chr10", |
2549 "position": 94988880, | 2848 "position": 94988880, |
2552 "alleles": [ | 2851 "alleles": [ |
2553 "*70" | 2852 "*70" |
2554 ], | 2853 ], |
2555 "phased": true, | 2854 "phased": true, |
2556 "wildtypeAllele": "G", | 2855 "wildtypeAllele": "G", |
2557 "mismatch": false | 2856 "mismatch": false, |
2857 "warnings": [] | |
2558 }, | 2858 }, |
2559 { | 2859 { |
2560 "gene": "CYP2C9", | 2860 "gene": "CYP2C9", |
2561 "chromosome": "chr10", | 2861 "chromosome": "chr10", |
2562 "position": 94988917, | 2862 "position": 94988917, |
2565 "alleles": [ | 2865 "alleles": [ |
2566 "*19" | 2866 "*19" |
2567 ], | 2867 ], |
2568 "phased": true, | 2868 "phased": true, |
2569 "wildtypeAllele": "G", | 2869 "wildtypeAllele": "G", |
2570 "mismatch": false | 2870 "mismatch": false, |
2871 "warnings": [] | |
2571 }, | 2872 }, |
2572 { | 2873 { |
2573 "gene": "CYP2C9", | 2874 "gene": "CYP2C9", |
2574 "chromosome": "chr10", | 2875 "chromosome": "chr10", |
2575 "position": 94988925, | 2876 "position": 94988925, |
2578 "alleles": [ | 2879 "alleles": [ |
2579 "*61" | 2880 "*61" |
2580 ], | 2881 ], |
2581 "phased": true, | 2882 "phased": true, |
2582 "wildtypeAllele": "A", | 2883 "wildtypeAllele": "A", |
2583 "mismatch": false | 2884 "mismatch": false, |
2885 "warnings": [] | |
2584 }, | 2886 }, |
2585 { | 2887 { |
2586 "gene": "CYP2C9", | 2888 "gene": "CYP2C9", |
2587 "chromosome": "chr10", | 2889 "chromosome": "chr10", |
2588 "position": 94988955, | 2890 "position": 94988955, |
2591 "alleles": [ | 2893 "alleles": [ |
2592 "*60" | 2894 "*60" |
2593 ], | 2895 ], |
2594 "phased": true, | 2896 "phased": true, |
2595 "wildtypeAllele": "T", | 2897 "wildtypeAllele": "T", |
2596 "mismatch": false | 2898 "mismatch": false, |
2899 "warnings": [] | |
2597 }, | 2900 }, |
2598 { | 2901 { |
2599 "gene": "CYP2C9", | 2902 "gene": "CYP2C9", |
2600 "chromosome": "chr10", | 2903 "chromosome": "chr10", |
2601 "position": 94988984, | 2904 "position": 94988984, |
2604 "alleles": [ | 2907 "alleles": [ |
2605 "*30" | 2908 "*30" |
2606 ], | 2909 ], |
2607 "phased": true, | 2910 "phased": true, |
2608 "wildtypeAllele": "G", | 2911 "wildtypeAllele": "G", |
2609 "mismatch": false | 2912 "mismatch": false, |
2913 "warnings": [] | |
2610 }, | 2914 }, |
2611 { | 2915 { |
2612 "gene": "CYP2C9", | 2916 "gene": "CYP2C9", |
2613 "chromosome": "chr10", | 2917 "chromosome": "chr10", |
2614 "position": 94989020, | 2918 "position": 94989020, |
2618 "*12", | 2922 "*12", |
2619 "*71" | 2923 "*71" |
2620 ], | 2924 ], |
2621 "phased": true, | 2925 "phased": true, |
2622 "wildtypeAllele": "C", | 2926 "wildtypeAllele": "C", |
2623 "mismatch": false | 2927 "mismatch": false, |
2928 "warnings": [] | |
2624 }, | 2929 }, |
2625 { | 2930 { |
2626 "gene": "CYP2C9", | 2931 "gene": "CYP2C9", |
2627 "chromosome": "chr10", | 2932 "chromosome": "chr10", |
2628 "position": 94989023, | 2933 "position": 94989023, |
2631 "alleles": [ | 2936 "alleles": [ |
2632 "*32" | 2937 "*32" |
2633 ], | 2938 ], |
2634 "phased": true, | 2939 "phased": true, |
2635 "wildtypeAllele": "G", | 2940 "wildtypeAllele": "G", |
2636 "mismatch": false | 2941 "mismatch": false, |
2942 "warnings": [] | |
2943 }, | |
2944 { | |
2945 "gene": "CYP2C9", | |
2946 "chromosome": "chr10", | |
2947 "position": 94938719, | |
2948 "dbSnpId": null, | |
2949 "call": null, | |
2950 "alleles": [ | |
2951 "*80" | |
2952 ], | |
2953 "phased": false, | |
2954 "wildtypeAllele": "T", | |
2955 "mismatch": false, | |
2956 "warnings": [] | |
2957 }, | |
2958 { | |
2959 "gene": "CYP2C9", | |
2960 "chromosome": "chr10", | |
2961 "position": 94938788, | |
2962 "dbSnpId": null, | |
2963 "call": null, | |
2964 "alleles": [ | |
2965 "*83" | |
2966 ], | |
2967 "phased": false, | |
2968 "wildtypeAllele": "C", | |
2969 "mismatch": false, | |
2970 "warnings": [] | |
2971 }, | |
2972 { | |
2973 "gene": "CYP2C9", | |
2974 "chromosome": "chr10", | |
2975 "position": 94938800, | |
2976 "dbSnpId": "rs1364419386", | |
2977 "call": null, | |
2978 "alleles": [ | |
2979 "*76" | |
2980 ], | |
2981 "phased": false, | |
2982 "wildtypeAllele": "G", | |
2983 "mismatch": false, | |
2984 "warnings": [] | |
2985 }, | |
2986 { | |
2987 "gene": "CYP2C9", | |
2988 "chromosome": "chr10", | |
2989 "position": 94941975, | |
2990 "dbSnpId": null, | |
2991 "call": null, | |
2992 "alleles": [ | |
2993 "*77" | |
2994 ], | |
2995 "phased": false, | |
2996 "wildtypeAllele": "G", | |
2997 "mismatch": false, | |
2998 "warnings": [] | |
2999 }, | |
3000 { | |
3001 "gene": "CYP2C9", | |
3002 "chromosome": "chr10", | |
3003 "position": 94942243, | |
3004 "dbSnpId": "rs1375956433", | |
3005 "call": null, | |
3006 "alleles": [ | |
3007 "*78" | |
3008 ], | |
3009 "phased": false, | |
3010 "wildtypeAllele": "T", | |
3011 "mismatch": false, | |
3012 "warnings": [] | |
2637 }, | 3013 }, |
2638 { | 3014 { |
2639 "gene": "CYP2C9", | 3015 "gene": "CYP2C9", |
2640 "chromosome": "chr10", | 3016 "chromosome": "chr10", |
2641 "position": 94942306, | 3017 "position": 94942306, |
2644 "alleles": [ | 3020 "alleles": [ |
2645 "*72" | 3021 "*72" |
2646 ], | 3022 ], |
2647 "phased": false, | 3023 "phased": false, |
2648 "wildtypeAllele": "C", | 3024 "wildtypeAllele": "C", |
2649 "mismatch": false | 3025 "mismatch": false, |
3026 "warnings": [] | |
2650 }, | 3027 }, |
2651 { | 3028 { |
2652 "gene": "CYP2C9", | 3029 "gene": "CYP2C9", |
2653 "chromosome": "chr10", | 3030 "chromosome": "chr10", |
2654 "position": 94942308, | 3031 "position": 94942308, |
2657 "alleles": [ | 3034 "alleles": [ |
2658 "*73" | 3035 "*73" |
2659 ], | 3036 ], |
2660 "phased": false, | 3037 "phased": false, |
2661 "wildtypeAllele": "C", | 3038 "wildtypeAllele": "C", |
2662 "mismatch": false | 3039 "mismatch": false, |
3040 "warnings": [] | |
2663 }, | 3041 }, |
2664 { | 3042 { |
2665 "gene": "CYP2C9", | 3043 "gene": "CYP2C9", |
2666 "chromosome": "chr10", | 3044 "chromosome": "chr10", |
2667 "position": 94947439, | 3045 "position": 94947439, |
2670 "alleles": [ | 3048 "alleles": [ |
2671 "*74" | 3049 "*74" |
2672 ], | 3050 ], |
2673 "phased": false, | 3051 "phased": false, |
2674 "wildtypeAllele": "G", | 3052 "wildtypeAllele": "G", |
2675 "mismatch": false | 3053 "mismatch": false, |
3054 "warnings": [] | |
3055 }, | |
3056 { | |
3057 "gene": "CYP2C9", | |
3058 "chromosome": "chr10", | |
3059 "position": 94949145, | |
3060 "dbSnpId": "rs772782449", | |
3061 "call": null, | |
3062 "alleles": [ | |
3063 "*82" | |
3064 ], | |
3065 "phased": false, | |
3066 "wildtypeAllele": "C", | |
3067 "mismatch": false, | |
3068 "warnings": [] | |
3069 }, | |
3070 { | |
3071 "gene": "CYP2C9", | |
3072 "chromosome": "chr10", | |
3073 "position": 94949161, | |
3074 "dbSnpId": null, | |
3075 "call": null, | |
3076 "alleles": [ | |
3077 "*85" | |
3078 ], | |
3079 "phased": false, | |
3080 "wildtypeAllele": "AT", | |
3081 "mismatch": false, | |
3082 "warnings": [] | |
3083 }, | |
3084 { | |
3085 "gene": "CYP2C9", | |
3086 "chromosome": "chr10", | |
3087 "position": 94972183, | |
3088 "dbSnpId": null, | |
3089 "call": null, | |
3090 "alleles": [ | |
3091 "*81" | |
3092 ], | |
3093 "phased": false, | |
3094 "wildtypeAllele": "A", | |
3095 "mismatch": false, | |
3096 "warnings": [] | |
3097 }, | |
3098 { | |
3099 "gene": "CYP2C9", | |
3100 "chromosome": "chr10", | |
3101 "position": 94981258, | |
3102 "dbSnpId": "rs1297714792", | |
3103 "call": null, | |
3104 "alleles": [ | |
3105 "*79" | |
3106 ], | |
3107 "phased": false, | |
3108 "wildtypeAllele": "C", | |
3109 "mismatch": false, | |
3110 "warnings": [] | |
2676 }, | 3111 }, |
2677 { | 3112 { |
2678 "gene": "CYP2C9", | 3113 "gene": "CYP2C9", |
2679 "chromosome": "chr10", | 3114 "chromosome": "chr10", |
2680 "position": 94986136, | 3115 "position": 94986136, |
2683 "alleles": [ | 3118 "alleles": [ |
2684 "*75" | 3119 "*75" |
2685 ], | 3120 ], |
2686 "phased": false, | 3121 "phased": false, |
2687 "wildtypeAllele": "A", | 3122 "wildtypeAllele": "A", |
2688 "mismatch": false | 3123 "mismatch": false, |
3124 "warnings": [] | |
3125 }, | |
3126 { | |
3127 "gene": "CYP2C9", | |
3128 "chromosome": "chr10", | |
3129 "position": 94986174, | |
3130 "dbSnpId": "rs1441296358", | |
3131 "call": null, | |
3132 "alleles": [ | |
3133 "*84" | |
3134 ], | |
3135 "phased": false, | |
3136 "wildtypeAllele": "G", | |
3137 "mismatch": false, | |
3138 "warnings": [] | |
2689 } | 3139 } |
2690 ], | 3140 ], |
2691 "variantsOfInterest": [ | 3141 "variantsOfInterest": [ |
2692 { | 3142 { |
2693 "gene": "CYP2C9", | 3143 "gene": "CYP2C9", |
2696 "dbSnpId": "rs12777823", | 3146 "dbSnpId": "rs12777823", |
2697 "call": "G|G", | 3147 "call": "G|G", |
2698 "alleles": [], | 3148 "alleles": [], |
2699 "phased": true, | 3149 "phased": true, |
2700 "wildtypeAllele": null, | 3150 "wildtypeAllele": null, |
2701 "mismatch": false | 3151 "mismatch": false, |
3152 "warnings": [] | |
2702 } | 3153 } |
2703 ], | 3154 ], |
2704 "highlightedVariants": [] | 3155 "highlightedVariants": [] |
2705 }, | 3156 }, |
2706 { | 3157 { |
2707 "geneSymbol": "CYP2D6", | 3158 "geneSymbol": "CYP2D6", |
2708 "chr": null, | 3159 "chr": null, |
2709 "phased": false, | 3160 "phased": false, |
2710 "callSource": "OUTSIDE", | 3161 "callSource": "OUTSIDE", |
2711 "uncalledHaplotypes": [], | 3162 "uncalledHaplotypes": [], |
2712 "messages": [ | 3163 "messages": [], |
2713 { | |
2714 "rule_name": "CYP2D6 warning", | |
2715 "version": "1", | |
2716 "matches": { | |
2717 "gene": "CYP2D6", | |
2718 "hapsCalled": [], | |
2719 "hapsMissing": [], | |
2720 "variantsMissing": [], | |
2721 "variant": "", | |
2722 "dips": [], | |
2723 "drugs": [] | |
2724 }, | |
2725 "exception_type": "note", | |
2726 "message": "CYP2D6 genotypes are called by a separate algorithm from other genes in the PharmCAT report. Please refer to \u003ca href\u003d\"https://github.com/PharmGKB/PharmCAT/wiki/Determining-Alleles\"\u003ethe PharmCAT wiki\u003c/a\u003e for more information." | |
2727 } | |
2728 ], | |
2729 "relatedDrugs": [], | 3164 "relatedDrugs": [], |
2730 "matcherDiplotypes": [ | 3165 "matcherDiplotypes": [], |
3166 "diplotypes": [ | |
2731 { | 3167 { |
2732 "allele1": { | 3168 "allele1": { |
2733 "gene": "CYP2D6", | 3169 "gene": "CYP2D6", |
2734 "name": "*1", | 3170 "name": "*1", |
2735 "function": "Normal function", | 3171 "function": "Normal function", |
2740 "name": "*3", | 3176 "name": "*3", |
2741 "function": "No function", | 3177 "function": "No function", |
2742 "reference": false | 3178 "reference": false |
2743 }, | 3179 }, |
2744 "gene": "CYP2D6", | 3180 "gene": "CYP2D6", |
2745 "phenotype": "Intermediate Metabolizer", | 3181 "phenotypes": [ |
3182 "Intermediate Metabolizer" | |
3183 ], | |
2746 "variant": null, | 3184 "variant": null, |
2747 "lookupKey": "1", | 3185 "lookupKey": [ |
2748 "label": "*1/*3" | 3186 "1" |
2749 } | 3187 ], |
2750 ], | |
2751 "diplotypes": [ | |
2752 { | |
2753 "allele1": { | |
2754 "gene": "CYP2D6", | |
2755 "name": "*1", | |
2756 "function": "Normal function", | |
2757 "reference": true | |
2758 }, | |
2759 "allele2": { | |
2760 "gene": "CYP2D6", | |
2761 "name": "*3", | |
2762 "function": "No function", | |
2763 "reference": false | |
2764 }, | |
2765 "gene": "CYP2D6", | |
2766 "phenotype": "Intermediate Metabolizer", | |
2767 "variant": null, | |
2768 "lookupKey": "1", | |
2769 "label": "*1/*3" | 3188 "label": "*1/*3" |
2770 } | 3189 } |
2771 ], | 3190 ], |
2772 "variants": [], | 3191 "variants": [], |
2773 "variantsOfInterest": [], | 3192 "variantsOfInterest": [], |
2810 "name": "*1", | 3229 "name": "*1", |
2811 "function": "Normal function", | 3230 "function": "Normal function", |
2812 "reference": true | 3231 "reference": true |
2813 }, | 3232 }, |
2814 "gene": "CYP3A5", | 3233 "gene": "CYP3A5", |
2815 "phenotype": "Normal Metabolizer", | 3234 "phenotypes": [ |
3235 "Normal Metabolizer" | |
3236 ], | |
2816 "variant": null, | 3237 "variant": null, |
2817 "lookupKey": "Normal Metabolizer", | 3238 "lookupKey": [ |
3239 "Normal Metabolizer" | |
3240 ], | |
2818 "label": "*1/*1" | 3241 "label": "*1/*1" |
2819 } | 3242 } |
2820 ], | 3243 ], |
2821 "diplotypes": [ | 3244 "diplotypes": [ |
2822 { | 3245 { |
2831 "name": "*1", | 3254 "name": "*1", |
2832 "function": "Normal function", | 3255 "function": "Normal function", |
2833 "reference": true | 3256 "reference": true |
2834 }, | 3257 }, |
2835 "gene": "CYP3A5", | 3258 "gene": "CYP3A5", |
2836 "phenotype": "Normal Metabolizer", | 3259 "phenotypes": [ |
3260 "Normal Metabolizer" | |
3261 ], | |
2837 "variant": null, | 3262 "variant": null, |
2838 "lookupKey": "Normal Metabolizer", | 3263 "lookupKey": [ |
3264 "Normal Metabolizer" | |
3265 ], | |
2839 "label": "*1/*1" | 3266 "label": "*1/*1" |
2840 } | 3267 } |
2841 ], | 3268 ], |
2842 "variants": [ | 3269 "variants": [ |
2843 { | |
2844 "gene": "CYP3A5", | |
2845 "chromosome": "chr7", | |
2846 "position": 99652613, | |
2847 "dbSnpId": "rs28365083", | |
2848 "call": "G|G", | |
2849 "alleles": [ | |
2850 "*2", | |
2851 "*3" | |
2852 ], | |
2853 "phased": true, | |
2854 "wildtypeAllele": "G", | |
2855 "mismatch": false | |
2856 }, | |
2857 { | 3270 { |
2858 "gene": "CYP3A5", | 3271 "gene": "CYP3A5", |
2859 "chromosome": "chr7", | 3272 "chromosome": "chr7", |
2860 "position": 99652770, | 3273 "position": 99652770, |
2861 "dbSnpId": "rs41303343", | 3274 "dbSnpId": "rs41303343", |
2863 "alleles": [ | 3276 "alleles": [ |
2864 "*7" | 3277 "*7" |
2865 ], | 3278 ], |
2866 "phased": true, | 3279 "phased": true, |
2867 "wildtypeAllele": "T", | 3280 "wildtypeAllele": "T", |
2868 "mismatch": false | 3281 "mismatch": false, |
3282 "warnings": [] | |
2869 }, | 3283 }, |
2870 { | 3284 { |
2871 "gene": "CYP3A5", | 3285 "gene": "CYP3A5", |
2872 "chromosome": "chr7", | 3286 "chromosome": "chr7", |
2873 "position": 99660516, | 3287 "position": 99660516, |
2874 "dbSnpId": "rs28383479", | 3288 "dbSnpId": "rs28383479", |
2875 "call": "C|C", | 3289 "call": "C|C", |
2876 "alleles": [ | 3290 "alleles": [ |
2877 "*3", | |
2878 "*9" | 3291 "*9" |
2879 ], | 3292 ], |
2880 "phased": true, | 3293 "phased": true, |
2881 "wildtypeAllele": "C", | 3294 "wildtypeAllele": "C", |
2882 "mismatch": false | 3295 "mismatch": false, |
3296 "warnings": [] | |
2883 }, | 3297 }, |
2884 { | 3298 { |
2885 "gene": "CYP3A5", | 3299 "gene": "CYP3A5", |
2886 "chromosome": "chr7", | 3300 "chromosome": "chr7", |
2887 "position": 99665212, | 3301 "position": 99665212, |
2890 "alleles": [ | 3304 "alleles": [ |
2891 "*6" | 3305 "*6" |
2892 ], | 3306 ], |
2893 "phased": true, | 3307 "phased": true, |
2894 "wildtypeAllele": "C", | 3308 "wildtypeAllele": "C", |
2895 "mismatch": false | 3309 "mismatch": false, |
2896 }, | 3310 "warnings": [] |
2897 { | |
2898 "gene": "CYP3A5", | |
2899 "chromosome": "chr7", | |
2900 "position": 99665237, | |
2901 "dbSnpId": "rs56411402", | |
2902 "call": "T|T", | |
2903 "alleles": [ | |
2904 "*3", | |
2905 "*4" | |
2906 ], | |
2907 "phased": true, | |
2908 "wildtypeAllele": "T", | |
2909 "mismatch": false | |
2910 }, | |
2911 { | |
2912 "gene": "CYP3A5", | |
2913 "chromosome": "chr7", | |
2914 "position": 99666950, | |
2915 "dbSnpId": "rs55965422", | |
2916 "call": "A|A", | |
2917 "alleles": [ | |
2918 "*3", | |
2919 "*5" | |
2920 ], | |
2921 "phased": true, | |
2922 "wildtypeAllele": "A", | |
2923 "mismatch": false | |
2924 }, | 3311 }, |
2925 { | 3312 { |
2926 "gene": "CYP3A5", | 3313 "gene": "CYP3A5", |
2927 "chromosome": "chr7", | 3314 "chromosome": "chr7", |
2928 "position": 99672916, | 3315 "position": 99672916, |
2931 "alleles": [ | 3318 "alleles": [ |
2932 "*3" | 3319 "*3" |
2933 ], | 3320 ], |
2934 "phased": true, | 3321 "phased": true, |
2935 "wildtypeAllele": "T", | 3322 "wildtypeAllele": "T", |
2936 "mismatch": false | 3323 "mismatch": false, |
3324 "warnings": [] | |
2937 }, | 3325 }, |
2938 { | 3326 { |
2939 "gene": "CYP3A5", | 3327 "gene": "CYP3A5", |
2940 "chromosome": "chr7", | 3328 "chromosome": "chr7", |
2941 "position": 99676198, | 3329 "position": 99676198, |
2944 "alleles": [ | 3332 "alleles": [ |
2945 "*8" | 3333 "*8" |
2946 ], | 3334 ], |
2947 "phased": true, | 3335 "phased": true, |
2948 "wildtypeAllele": "G", | 3336 "wildtypeAllele": "G", |
2949 "mismatch": false | 3337 "mismatch": false, |
3338 "warnings": [] | |
2950 } | 3339 } |
2951 ], | 3340 ], |
2952 "variantsOfInterest": [], | 3341 "variantsOfInterest": [], |
2953 "highlightedVariants": [] | 3342 "highlightedVariants": [] |
2954 }, | 3343 }, |
2973 "name": "*1", | 3362 "name": "*1", |
2974 "function": null, | 3363 "function": null, |
2975 "reference": true | 3364 "reference": true |
2976 }, | 3365 }, |
2977 "gene": "CYP4F2", | 3366 "gene": "CYP4F2", |
2978 "phenotype": null, | 3367 "phenotypes": [], |
2979 "variant": null, | 3368 "variant": null, |
2980 "lookupKey": null, | 3369 "lookupKey": [], |
2981 "label": "*1/*1" | 3370 "label": "*1/*1" |
2982 } | 3371 } |
2983 ], | 3372 ], |
2984 "diplotypes": [ | 3373 "diplotypes": [ |
2985 { | 3374 { |
2994 "name": "*1", | 3383 "name": "*1", |
2995 "function": null, | 3384 "function": null, |
2996 "reference": true | 3385 "reference": true |
2997 }, | 3386 }, |
2998 "gene": "CYP4F2", | 3387 "gene": "CYP4F2", |
2999 "phenotype": null, | 3388 "phenotypes": [], |
3000 "variant": null, | 3389 "variant": null, |
3001 "lookupKey": null, | 3390 "lookupKey": [], |
3002 "label": "*1/*1" | 3391 "label": "*1/*1" |
3003 } | 3392 } |
3004 ], | 3393 ], |
3005 "variants": [ | 3394 "variants": [ |
3006 { | 3395 { |
3012 "alleles": [ | 3401 "alleles": [ |
3013 "*3" | 3402 "*3" |
3014 ], | 3403 ], |
3015 "phased": true, | 3404 "phased": true, |
3016 "wildtypeAllele": "C", | 3405 "wildtypeAllele": "C", |
3017 "mismatch": false | 3406 "mismatch": false, |
3407 "warnings": [] | |
3018 }, | 3408 }, |
3019 { | 3409 { |
3020 "gene": "CYP4F2", | 3410 "gene": "CYP4F2", |
3021 "chromosome": "chr19", | 3411 "chromosome": "chr19", |
3022 "position": 15897578, | 3412 "position": 15897578, |
3025 "alleles": [ | 3415 "alleles": [ |
3026 "*2" | 3416 "*2" |
3027 ], | 3417 ], |
3028 "phased": true, | 3418 "phased": true, |
3029 "wildtypeAllele": "A", | 3419 "wildtypeAllele": "A", |
3030 "mismatch": false | 3420 "mismatch": false, |
3421 "warnings": [] | |
3031 } | 3422 } |
3032 ], | 3423 ], |
3033 "variantsOfInterest": [], | 3424 "variantsOfInterest": [], |
3034 "highlightedVariants": [] | 3425 "highlightedVariants": [] |
3035 }, | 3426 }, |
3070 "name": "Reference", | 3461 "name": "Reference", |
3071 "function": "Normal function", | 3462 "function": "Normal function", |
3072 "reference": true | 3463 "reference": true |
3073 }, | 3464 }, |
3074 "gene": "DPYD", | 3465 "gene": "DPYD", |
3075 "phenotype": "Normal Metabolizer", | 3466 "phenotypes": [ |
3467 "Normal Metabolizer" | |
3468 ], | |
3076 "variant": null, | 3469 "variant": null, |
3077 "lookupKey": "2", | 3470 "lookupKey": [ |
3471 "2" | |
3472 ], | |
3078 "label": "Reference/Reference" | 3473 "label": "Reference/Reference" |
3079 } | 3474 } |
3080 ], | 3475 ], |
3081 "diplotypes": [ | 3476 "diplotypes": [ |
3082 { | 3477 { |
3091 "name": "Reference", | 3486 "name": "Reference", |
3092 "function": "Normal function", | 3487 "function": "Normal function", |
3093 "reference": true | 3488 "reference": true |
3094 }, | 3489 }, |
3095 "gene": "DPYD", | 3490 "gene": "DPYD", |
3096 "phenotype": "Normal Metabolizer", | 3491 "phenotypes": [ |
3492 "Normal Metabolizer" | |
3493 ], | |
3097 "variant": null, | 3494 "variant": null, |
3098 "lookupKey": "2", | 3495 "lookupKey": [ |
3496 "2" | |
3497 ], | |
3099 "label": "Reference/Reference" | 3498 "label": "Reference/Reference" |
3100 } | 3499 } |
3101 ], | 3500 ], |
3102 "variants": [ | 3501 "variants": [ |
3103 { | 3502 { |
3109 "alleles": [ | 3508 "alleles": [ |
3110 "c.3067C\u003eA" | 3509 "c.3067C\u003eA" |
3111 ], | 3510 ], |
3112 "phased": true, | 3511 "phased": true, |
3113 "wildtypeAllele": "G", | 3512 "wildtypeAllele": "G", |
3114 "mismatch": false | 3513 "mismatch": false, |
3514 "warnings": [] | |
3115 }, | 3515 }, |
3116 { | 3516 { |
3117 "gene": "DPYD", | 3517 "gene": "DPYD", |
3118 "chromosome": "chr1", | 3518 "chromosome": "chr1", |
3119 "position": 97078993, | 3519 "position": 97078993, |
3122 "alleles": [ | 3522 "alleles": [ |
3123 "c.3061G\u003eC" | 3523 "c.3061G\u003eC" |
3124 ], | 3524 ], |
3125 "phased": true, | 3525 "phased": true, |
3126 "wildtypeAllele": "C", | 3526 "wildtypeAllele": "C", |
3127 "mismatch": false | 3527 "mismatch": false, |
3528 "warnings": [] | |
3128 }, | 3529 }, |
3129 { | 3530 { |
3130 "gene": "DPYD", | 3531 "gene": "DPYD", |
3131 "chromosome": "chr1", | 3532 "chromosome": "chr1", |
3132 "position": 97079005, | 3533 "position": 97079005, |
3135 "alleles": [ | 3536 "alleles": [ |
3136 "c.3049G\u003eA" | 3537 "c.3049G\u003eA" |
3137 ], | 3538 ], |
3138 "phased": true, | 3539 "phased": true, |
3139 "wildtypeAllele": "C", | 3540 "wildtypeAllele": "C", |
3140 "mismatch": false | 3541 "mismatch": false, |
3542 "warnings": [] | |
3141 }, | 3543 }, |
3142 { | 3544 { |
3143 "gene": "DPYD", | 3545 "gene": "DPYD", |
3144 "chromosome": "chr1", | 3546 "chromosome": "chr1", |
3145 "position": 97079071, | 3547 "position": 97079071, |
3148 "alleles": [ | 3550 "alleles": [ |
3149 "c.2983G\u003eT (*10)" | 3551 "c.2983G\u003eT (*10)" |
3150 ], | 3552 ], |
3151 "phased": true, | 3553 "phased": true, |
3152 "wildtypeAllele": "C", | 3554 "wildtypeAllele": "C", |
3153 "mismatch": false | 3555 "mismatch": false, |
3556 "warnings": [] | |
3154 }, | 3557 }, |
3155 { | 3558 { |
3156 "gene": "DPYD", | 3559 "gene": "DPYD", |
3157 "chromosome": "chr1", | 3560 "chromosome": "chr1", |
3158 "position": 97079076, | 3561 "position": 97079076, |
3161 "alleles": [ | 3564 "alleles": [ |
3162 "c.2978T\u003eG" | 3565 "c.2978T\u003eG" |
3163 ], | 3566 ], |
3164 "phased": true, | 3567 "phased": true, |
3165 "wildtypeAllele": "A", | 3568 "wildtypeAllele": "A", |
3166 "mismatch": false | 3569 "mismatch": false, |
3570 "warnings": [] | |
3167 }, | 3571 }, |
3168 { | 3572 { |
3169 "gene": "DPYD", | 3573 "gene": "DPYD", |
3170 "chromosome": "chr1", | 3574 "chromosome": "chr1", |
3171 "position": 97079077, | 3575 "position": 97079077, |
3174 "alleles": [ | 3578 "alleles": [ |
3175 "c.2977C\u003eT" | 3579 "c.2977C\u003eT" |
3176 ], | 3580 ], |
3177 "phased": true, | 3581 "phased": true, |
3178 "wildtypeAllele": "G", | 3582 "wildtypeAllele": "G", |
3179 "mismatch": false | 3583 "mismatch": false, |
3584 "warnings": [] | |
3180 }, | 3585 }, |
3181 { | 3586 { |
3182 "gene": "DPYD", | 3587 "gene": "DPYD", |
3183 "chromosome": "chr1", | 3588 "chromosome": "chr1", |
3184 "position": 97079121, | 3589 "position": 97079121, |
3187 "alleles": [ | 3592 "alleles": [ |
3188 "c.2933A\u003eG" | 3593 "c.2933A\u003eG" |
3189 ], | 3594 ], |
3190 "phased": true, | 3595 "phased": true, |
3191 "wildtypeAllele": "T", | 3596 "wildtypeAllele": "T", |
3192 "mismatch": false | 3597 "mismatch": false, |
3598 "warnings": [] | |
3193 }, | 3599 }, |
3194 { | 3600 { |
3195 "gene": "DPYD", | 3601 "gene": "DPYD", |
3196 "chromosome": "chr1", | 3602 "chromosome": "chr1", |
3197 "position": 97079133, | 3603 "position": 97079133, |
3200 "alleles": [ | 3606 "alleles": [ |
3201 "c.2921A\u003eT" | 3607 "c.2921A\u003eT" |
3202 ], | 3608 ], |
3203 "phased": true, | 3609 "phased": true, |
3204 "wildtypeAllele": "T", | 3610 "wildtypeAllele": "T", |
3205 "mismatch": false | 3611 "mismatch": false, |
3612 "warnings": [] | |
3206 }, | 3613 }, |
3207 { | 3614 { |
3208 "gene": "DPYD", | 3615 "gene": "DPYD", |
3209 "chromosome": "chr1", | 3616 "chromosome": "chr1", |
3210 "position": 97079139, | 3617 "position": 97079139, |
3213 "alleles": [ | 3620 "alleles": [ |
3214 "c.2915A\u003eG" | 3621 "c.2915A\u003eG" |
3215 ], | 3622 ], |
3216 "phased": true, | 3623 "phased": true, |
3217 "wildtypeAllele": "T", | 3624 "wildtypeAllele": "T", |
3218 "mismatch": false | 3625 "mismatch": false, |
3626 "warnings": [] | |
3219 }, | 3627 }, |
3220 { | 3628 { |
3221 "gene": "DPYD", | 3629 "gene": "DPYD", |
3222 "chromosome": "chr1", | 3630 "chromosome": "chr1", |
3223 "position": 97082365, | 3631 "position": 97082365, |
3226 "alleles": [ | 3634 "alleles": [ |
3227 "c.2872A\u003eG" | 3635 "c.2872A\u003eG" |
3228 ], | 3636 ], |
3229 "phased": true, | 3637 "phased": true, |
3230 "wildtypeAllele": "T", | 3638 "wildtypeAllele": "T", |
3231 "mismatch": false | 3639 "mismatch": false, |
3640 "warnings": [] | |
3232 }, | 3641 }, |
3233 { | 3642 { |
3234 "gene": "DPYD", | 3643 "gene": "DPYD", |
3235 "chromosome": "chr1", | 3644 "chromosome": "chr1", |
3236 "position": 97082391, | 3645 "position": 97082391, |
3239 "alleles": [ | 3648 "alleles": [ |
3240 "c.2846A\u003eT" | 3649 "c.2846A\u003eT" |
3241 ], | 3650 ], |
3242 "phased": true, | 3651 "phased": true, |
3243 "wildtypeAllele": "T", | 3652 "wildtypeAllele": "T", |
3244 "mismatch": false | 3653 "mismatch": false, |
3654 "warnings": [] | |
3245 }, | 3655 }, |
3246 { | 3656 { |
3247 "gene": "DPYD", | 3657 "gene": "DPYD", |
3248 "chromosome": "chr1", | 3658 "chromosome": "chr1", |
3249 "position": 97098598, | 3659 "position": 97098598, |
3252 "alleles": [ | 3662 "alleles": [ |
3253 "c.2657G\u003eA (*9B)" | 3663 "c.2657G\u003eA (*9B)" |
3254 ], | 3664 ], |
3255 "phased": true, | 3665 "phased": true, |
3256 "wildtypeAllele": "C", | 3666 "wildtypeAllele": "C", |
3257 "mismatch": false | 3667 "mismatch": false, |
3668 "warnings": [] | |
3258 }, | 3669 }, |
3259 { | 3670 { |
3260 "gene": "DPYD", | 3671 "gene": "DPYD", |
3261 "chromosome": "chr1", | 3672 "chromosome": "chr1", |
3262 "position": 97098599, | 3673 "position": 97098599, |
3265 "alleles": [ | 3676 "alleles": [ |
3266 "c.2656C\u003eT" | 3677 "c.2656C\u003eT" |
3267 ], | 3678 ], |
3268 "phased": true, | 3679 "phased": true, |
3269 "wildtypeAllele": "G", | 3680 "wildtypeAllele": "G", |
3270 "mismatch": false | 3681 "mismatch": false, |
3682 "warnings": [] | |
3271 }, | 3683 }, |
3272 { | 3684 { |
3273 "gene": "DPYD", | 3685 "gene": "DPYD", |
3274 "chromosome": "chr1", | 3686 "chromosome": "chr1", |
3275 "position": 97098616, | 3687 "position": 97098616, |
3278 "alleles": [ | 3690 "alleles": [ |
3279 "c.2639G\u003eT" | 3691 "c.2639G\u003eT" |
3280 ], | 3692 ], |
3281 "phased": true, | 3693 "phased": true, |
3282 "wildtypeAllele": "C", | 3694 "wildtypeAllele": "C", |
3283 "mismatch": false | 3695 "mismatch": false, |
3696 "warnings": [] | |
3284 }, | 3697 }, |
3285 { | 3698 { |
3286 "gene": "DPYD", | 3699 "gene": "DPYD", |
3287 "chromosome": "chr1", | 3700 "chromosome": "chr1", |
3288 "position": 97098632, | 3701 "position": 97098632, |
3291 "alleles": [ | 3704 "alleles": [ |
3292 "c.2623A\u003eC" | 3705 "c.2623A\u003eC" |
3293 ], | 3706 ], |
3294 "phased": true, | 3707 "phased": true, |
3295 "wildtypeAllele": "T", | 3708 "wildtypeAllele": "T", |
3296 "mismatch": false | 3709 "mismatch": false, |
3710 "warnings": [] | |
3297 }, | 3711 }, |
3298 { | 3712 { |
3299 "gene": "DPYD", | 3713 "gene": "DPYD", |
3300 "chromosome": "chr1", | 3714 "chromosome": "chr1", |
3301 "position": 97193109, | 3715 "position": 97193109, |
3304 "alleles": [ | 3718 "alleles": [ |
3305 "c.2582A\u003eG" | 3719 "c.2582A\u003eG" |
3306 ], | 3720 ], |
3307 "phased": true, | 3721 "phased": true, |
3308 "wildtypeAllele": "T", | 3722 "wildtypeAllele": "T", |
3309 "mismatch": false | 3723 "mismatch": false, |
3724 "warnings": [] | |
3310 }, | 3725 }, |
3311 { | 3726 { |
3312 "gene": "DPYD", | 3727 "gene": "DPYD", |
3313 "chromosome": "chr1", | 3728 "chromosome": "chr1", |
3314 "position": 97193209, | 3729 "position": 97193209, |
3317 "alleles": [ | 3732 "alleles": [ |
3318 "c.2482G\u003eA" | 3733 "c.2482G\u003eA" |
3319 ], | 3734 ], |
3320 "phased": true, | 3735 "phased": true, |
3321 "wildtypeAllele": "C", | 3736 "wildtypeAllele": "C", |
3322 "mismatch": false | 3737 "mismatch": false, |
3738 "warnings": [] | |
3323 }, | 3739 }, |
3324 { | 3740 { |
3325 "gene": "DPYD", | 3741 "gene": "DPYD", |
3326 "chromosome": "chr1", | 3742 "chromosome": "chr1", |
3327 "position": 97234958, | 3743 "position": 97234958, |
3330 "alleles": [ | 3746 "alleles": [ |
3331 "c.2336C\u003eA" | 3747 "c.2336C\u003eA" |
3332 ], | 3748 ], |
3333 "phased": true, | 3749 "phased": true, |
3334 "wildtypeAllele": "G", | 3750 "wildtypeAllele": "G", |
3335 "mismatch": false | 3751 "mismatch": false, |
3752 "warnings": [] | |
3336 }, | 3753 }, |
3337 { | 3754 { |
3338 "gene": "DPYD", | 3755 "gene": "DPYD", |
3339 "chromosome": "chr1", | 3756 "chromosome": "chr1", |
3340 "position": 97234991, | 3757 "position": 97234991, |
3343 "alleles": [ | 3760 "alleles": [ |
3344 "c.2303C\u003eA" | 3761 "c.2303C\u003eA" |
3345 ], | 3762 ], |
3346 "phased": true, | 3763 "phased": true, |
3347 "wildtypeAllele": "G", | 3764 "wildtypeAllele": "G", |
3348 "mismatch": false | 3765 "mismatch": false, |
3766 "warnings": [] | |
3349 }, | 3767 }, |
3350 { | 3768 { |
3351 "gene": "DPYD", | 3769 "gene": "DPYD", |
3352 "chromosome": "chr1", | 3770 "chromosome": "chr1", |
3353 "position": 97305279, | 3771 "position": 97305279, |
3356 "alleles": [ | 3774 "alleles": [ |
3357 "c.2279C\u003eT" | 3775 "c.2279C\u003eT" |
3358 ], | 3776 ], |
3359 "phased": true, | 3777 "phased": true, |
3360 "wildtypeAllele": "G", | 3778 "wildtypeAllele": "G", |
3361 "mismatch": false | 3779 "mismatch": false, |
3780 "warnings": [] | |
3362 }, | 3781 }, |
3363 { | 3782 { |
3364 "gene": "DPYD", | 3783 "gene": "DPYD", |
3365 "chromosome": "chr1", | 3784 "chromosome": "chr1", |
3366 "position": 97305363, | 3785 "position": 97305363, |
3369 "alleles": [ | 3788 "alleles": [ |
3370 "c.2195T\u003eG" | 3789 "c.2195T\u003eG" |
3371 ], | 3790 ], |
3372 "phased": true, | 3791 "phased": true, |
3373 "wildtypeAllele": "A", | 3792 "wildtypeAllele": "A", |
3374 "mismatch": false | 3793 "mismatch": false, |
3794 "warnings": [] | |
3375 }, | 3795 }, |
3376 { | 3796 { |
3377 "gene": "DPYD", | 3797 "gene": "DPYD", |
3378 "chromosome": "chr1", | 3798 "chromosome": "chr1", |
3379 "position": 97305364, | 3799 "position": 97305364, |
3382 "alleles": [ | 3802 "alleles": [ |
3383 "c.2194G\u003eA (*6)" | 3803 "c.2194G\u003eA (*6)" |
3384 ], | 3804 ], |
3385 "phased": true, | 3805 "phased": true, |
3386 "wildtypeAllele": "C", | 3806 "wildtypeAllele": "C", |
3387 "mismatch": false | 3807 "mismatch": false, |
3808 "warnings": [] | |
3388 }, | 3809 }, |
3389 { | 3810 { |
3390 "gene": "DPYD", | 3811 "gene": "DPYD", |
3391 "chromosome": "chr1", | 3812 "chromosome": "chr1", |
3392 "position": 97305372, | 3813 "position": 97305372, |
3395 "alleles": [ | 3816 "alleles": [ |
3396 "c.2186C\u003eT" | 3817 "c.2186C\u003eT" |
3397 ], | 3818 ], |
3398 "phased": true, | 3819 "phased": true, |
3399 "wildtypeAllele": "G", | 3820 "wildtypeAllele": "G", |
3400 "mismatch": false | 3821 "mismatch": false, |
3822 "warnings": [] | |
3401 }, | 3823 }, |
3402 { | 3824 { |
3403 "gene": "DPYD", | 3825 "gene": "DPYD", |
3404 "chromosome": "chr1", | 3826 "chromosome": "chr1", |
3405 "position": 97306195, | 3827 "position": 97306195, |
3408 "alleles": [ | 3830 "alleles": [ |
3409 "c.2161G\u003eA" | 3831 "c.2161G\u003eA" |
3410 ], | 3832 ], |
3411 "phased": true, | 3833 "phased": true, |
3412 "wildtypeAllele": "C", | 3834 "wildtypeAllele": "C", |
3413 "mismatch": false | 3835 "mismatch": false, |
3836 "warnings": [] | |
3414 }, | 3837 }, |
3415 { | 3838 { |
3416 "gene": "DPYD", | 3839 "gene": "DPYD", |
3417 "chromosome": "chr1", | 3840 "chromosome": "chr1", |
3418 "position": 97373598, | 3841 "position": 97373598, |
3421 "alleles": [ | 3844 "alleles": [ |
3422 "c.2021G\u003eA" | 3845 "c.2021G\u003eA" |
3423 ], | 3846 ], |
3424 "phased": true, | 3847 "phased": true, |
3425 "wildtypeAllele": "C", | 3848 "wildtypeAllele": "C", |
3426 "mismatch": false | 3849 "mismatch": false, |
3850 "warnings": [] | |
3427 }, | 3851 }, |
3428 { | 3852 { |
3429 "gene": "DPYD", | 3853 "gene": "DPYD", |
3430 "chromosome": "chr1", | 3854 "chromosome": "chr1", |
3431 "position": 97373629, | 3855 "position": 97373629, |
3434 "alleles": [ | 3858 "alleles": [ |
3435 "c.1990G\u003eT" | 3859 "c.1990G\u003eT" |
3436 ], | 3860 ], |
3437 "phased": true, | 3861 "phased": true, |
3438 "wildtypeAllele": "C", | 3862 "wildtypeAllele": "C", |
3439 "mismatch": false | 3863 "mismatch": false, |
3864 "warnings": [] | |
3440 }, | 3865 }, |
3441 { | 3866 { |
3442 "gene": "DPYD", | 3867 "gene": "DPYD", |
3443 "chromosome": "chr1", | 3868 "chromosome": "chr1", |
3444 "position": 97382461, | 3869 "position": 97382461, |
3447 "alleles": [ | 3872 "alleles": [ |
3448 "c.1906A\u003eC" | 3873 "c.1906A\u003eC" |
3449 ], | 3874 ], |
3450 "phased": true, | 3875 "phased": true, |
3451 "wildtypeAllele": "T", | 3876 "wildtypeAllele": "T", |
3452 "mismatch": false | 3877 "mismatch": false, |
3878 "warnings": [] | |
3453 }, | 3879 }, |
3454 { | 3880 { |
3455 "gene": "DPYD", | 3881 "gene": "DPYD", |
3456 "chromosome": "chr1", | 3882 "chromosome": "chr1", |
3457 "position": 97450058, | 3883 "position": 97450058, |
3460 "alleles": [ | 3886 "alleles": [ |
3461 "c.1905+1G\u003eA (*2A)" | 3887 "c.1905+1G\u003eA (*2A)" |
3462 ], | 3888 ], |
3463 "phased": true, | 3889 "phased": true, |
3464 "wildtypeAllele": "C", | 3890 "wildtypeAllele": "C", |
3465 "mismatch": false | 3891 "mismatch": false, |
3892 "warnings": [] | |
3466 }, | 3893 }, |
3467 { | 3894 { |
3468 "gene": "DPYD", | 3895 "gene": "DPYD", |
3469 "chromosome": "chr1", | 3896 "chromosome": "chr1", |
3470 "position": 97450059, | 3897 "position": 97450059, |
3473 "alleles": [ | 3900 "alleles": [ |
3474 "c.1905C\u003eG" | 3901 "c.1905C\u003eG" |
3475 ], | 3902 ], |
3476 "phased": true, | 3903 "phased": true, |
3477 "wildtypeAllele": "G", | 3904 "wildtypeAllele": "G", |
3478 "mismatch": false | 3905 "mismatch": false, |
3906 "warnings": [] | |
3479 }, | 3907 }, |
3480 { | 3908 { |
3481 "gene": "DPYD", | 3909 "gene": "DPYD", |
3482 "chromosome": "chr1", | 3910 "chromosome": "chr1", |
3483 "position": 97450065, | 3911 "position": 97450065, |
3486 "alleles": [ | 3914 "alleles": [ |
3487 "c.1898delC (*3)" | 3915 "c.1898delC (*3)" |
3488 ], | 3916 ], |
3489 "phased": true, | 3917 "phased": true, |
3490 "wildtypeAllele": "TG", | 3918 "wildtypeAllele": "TG", |
3491 "mismatch": false | 3919 "mismatch": false, |
3920 "warnings": [] | |
3492 }, | 3921 }, |
3493 { | 3922 { |
3494 "gene": "DPYD", | 3923 "gene": "DPYD", |
3495 "chromosome": "chr1", | 3924 "chromosome": "chr1", |
3496 "position": 97450068, | 3925 "position": 97450068, |
3499 "alleles": [ | 3928 "alleles": [ |
3500 "c.1896T\u003eC" | 3929 "c.1896T\u003eC" |
3501 ], | 3930 ], |
3502 "phased": true, | 3931 "phased": true, |
3503 "wildtypeAllele": "A", | 3932 "wildtypeAllele": "A", |
3504 "mismatch": false | 3933 "mismatch": false, |
3934 "warnings": [] | |
3505 }, | 3935 }, |
3506 { | 3936 { |
3507 "gene": "DPYD", | 3937 "gene": "DPYD", |
3508 "chromosome": "chr1", | 3938 "chromosome": "chr1", |
3509 "position": 97450168, | 3939 "position": 97450168, |
3512 "alleles": [ | 3942 "alleles": [ |
3513 "c.1796T\u003eC" | 3943 "c.1796T\u003eC" |
3514 ], | 3944 ], |
3515 "phased": true, | 3945 "phased": true, |
3516 "wildtypeAllele": "A", | 3946 "wildtypeAllele": "A", |
3517 "mismatch": false | 3947 "mismatch": false, |
3948 "warnings": [] | |
3518 }, | 3949 }, |
3519 { | 3950 { |
3520 "gene": "DPYD", | 3951 "gene": "DPYD", |
3521 "chromosome": "chr1", | 3952 "chromosome": "chr1", |
3522 "position": 97450187, | 3953 "position": 97450187, |
3525 "alleles": [ | 3956 "alleles": [ |
3526 "c.1777G\u003eA" | 3957 "c.1777G\u003eA" |
3527 ], | 3958 ], |
3528 "phased": true, | 3959 "phased": true, |
3529 "wildtypeAllele": "C", | 3960 "wildtypeAllele": "C", |
3530 "mismatch": false | 3961 "mismatch": false, |
3962 "warnings": [] | |
3531 }, | 3963 }, |
3532 { | 3964 { |
3533 "gene": "DPYD", | 3965 "gene": "DPYD", |
3534 "chromosome": "chr1", | 3966 "chromosome": "chr1", |
3535 "position": 97450189, | 3967 "position": 97450189, |
3538 "alleles": [ | 3970 "alleles": [ |
3539 "c.1775G\u003eA" | 3971 "c.1775G\u003eA" |
3540 ], | 3972 ], |
3541 "phased": true, | 3973 "phased": true, |
3542 "wildtypeAllele": "C", | 3974 "wildtypeAllele": "C", |
3543 "mismatch": false | 3975 "mismatch": false, |
3976 "warnings": [] | |
3544 }, | 3977 }, |
3545 { | 3978 { |
3546 "gene": "DPYD", | 3979 "gene": "DPYD", |
3547 "chromosome": "chr1", | 3980 "chromosome": "chr1", |
3548 "position": 97450190, | 3981 "position": 97450190, |
3551 "alleles": [ | 3984 "alleles": [ |
3552 "c.1774C\u003eT" | 3985 "c.1774C\u003eT" |
3553 ], | 3986 ], |
3554 "phased": true, | 3987 "phased": true, |
3555 "wildtypeAllele": "G", | 3988 "wildtypeAllele": "G", |
3556 "mismatch": false | 3989 "mismatch": false, |
3990 "warnings": [] | |
3557 }, | 3991 }, |
3558 { | 3992 { |
3559 "gene": "DPYD", | 3993 "gene": "DPYD", |
3560 "chromosome": "chr1", | 3994 "chromosome": "chr1", |
3561 "position": 97515784, | 3995 "position": 97515784, |
3564 "alleles": [ | 3998 "alleles": [ |
3565 "c.1682G\u003eT" | 3999 "c.1682G\u003eT" |
3566 ], | 4000 ], |
3567 "phased": true, | 4001 "phased": true, |
3568 "wildtypeAllele": "C", | 4002 "wildtypeAllele": "C", |
3569 "mismatch": false | 4003 "mismatch": false, |
4004 "warnings": [] | |
3570 }, | 4005 }, |
3571 { | 4006 { |
3572 "gene": "DPYD", | 4007 "gene": "DPYD", |
3573 "chromosome": "chr1", | 4008 "chromosome": "chr1", |
3574 "position": 97515787, | 4009 "position": 97515787, |
3577 "alleles": [ | 4012 "alleles": [ |
3578 "c.1679T\u003eG (*13)" | 4013 "c.1679T\u003eG (*13)" |
3579 ], | 4014 ], |
3580 "phased": true, | 4015 "phased": true, |
3581 "wildtypeAllele": "A", | 4016 "wildtypeAllele": "A", |
3582 "mismatch": false | 4017 "mismatch": false, |
4018 "warnings": [] | |
3583 }, | 4019 }, |
3584 { | 4020 { |
3585 "gene": "DPYD", | 4021 "gene": "DPYD", |
3586 "chromosome": "chr1", | 4022 "chromosome": "chr1", |
3587 "position": 97515839, | 4023 "position": 97515839, |
3590 "alleles": [ | 4026 "alleles": [ |
3591 "c.1627A\u003eG (*5)" | 4027 "c.1627A\u003eG (*5)" |
3592 ], | 4028 ], |
3593 "phased": true, | 4029 "phased": true, |
3594 "wildtypeAllele": "T", | 4030 "wildtypeAllele": "T", |
3595 "mismatch": false | 4031 "mismatch": false, |
4032 "warnings": [] | |
3596 }, | 4033 }, |
3597 { | 4034 { |
3598 "gene": "DPYD", | 4035 "gene": "DPYD", |
3599 "chromosome": "chr1", | 4036 "chromosome": "chr1", |
3600 "position": 97515851, | 4037 "position": 97515851, |
3603 "alleles": [ | 4040 "alleles": [ |
3604 "c.1615G\u003eA" | 4041 "c.1615G\u003eA" |
3605 ], | 4042 ], |
3606 "phased": true, | 4043 "phased": true, |
3607 "wildtypeAllele": "C", | 4044 "wildtypeAllele": "C", |
3608 "mismatch": false | 4045 "mismatch": false, |
4046 "warnings": [] | |
3609 }, | 4047 }, |
3610 { | 4048 { |
3611 "gene": "DPYD", | 4049 "gene": "DPYD", |
3612 "chromosome": "chr1", | 4050 "chromosome": "chr1", |
3613 "position": 97515865, | 4051 "position": 97515865, |
3616 "alleles": [ | 4054 "alleles": [ |
3617 "c.1601G\u003eA (*4)" | 4055 "c.1601G\u003eA (*4)" |
3618 ], | 4056 ], |
3619 "phased": true, | 4057 "phased": true, |
3620 "wildtypeAllele": "C", | 4058 "wildtypeAllele": "C", |
3621 "mismatch": false | 4059 "mismatch": false, |
4060 "warnings": [] | |
3622 }, | 4061 }, |
3623 { | 4062 { |
3624 "gene": "DPYD", | 4063 "gene": "DPYD", |
3625 "chromosome": "chr1", | 4064 "chromosome": "chr1", |
3626 "position": 97515889, | 4065 "position": 97515889, |
3629 "alleles": [ | 4068 "alleles": [ |
3630 "c.1577C\u003eG" | 4069 "c.1577C\u003eG" |
3631 ], | 4070 ], |
3632 "phased": true, | 4071 "phased": true, |
3633 "wildtypeAllele": "G", | 4072 "wildtypeAllele": "G", |
3634 "mismatch": false | 4073 "mismatch": false, |
4074 "warnings": [] | |
3635 }, | 4075 }, |
3636 { | 4076 { |
3637 "gene": "DPYD", | 4077 "gene": "DPYD", |
3638 "chromosome": "chr1", | 4078 "chromosome": "chr1", |
3639 "position": 97515923, | 4079 "position": 97515923, |
3642 "alleles": [ | 4082 "alleles": [ |
3643 "c.1543G\u003eA" | 4083 "c.1543G\u003eA" |
3644 ], | 4084 ], |
3645 "phased": true, | 4085 "phased": true, |
3646 "wildtypeAllele": "C", | 4086 "wildtypeAllele": "C", |
3647 "mismatch": false | 4087 "mismatch": false, |
4088 "warnings": [] | |
3648 }, | 4089 }, |
3649 { | 4090 { |
3650 "gene": "DPYD", | 4091 "gene": "DPYD", |
3651 "chromosome": "chr1", | 4092 "chromosome": "chr1", |
3652 "position": 97549565, | 4093 "position": 97549565, |
3655 "alleles": [ | 4096 "alleles": [ |
3656 "c.1519G\u003eA" | 4097 "c.1519G\u003eA" |
3657 ], | 4098 ], |
3658 "phased": true, | 4099 "phased": true, |
3659 "wildtypeAllele": "C", | 4100 "wildtypeAllele": "C", |
3660 "mismatch": false | 4101 "mismatch": false, |
4102 "warnings": [] | |
3661 }, | 4103 }, |
3662 { | 4104 { |
3663 "gene": "DPYD", | 4105 "gene": "DPYD", |
3664 "chromosome": "chr1", | 4106 "chromosome": "chr1", |
3665 "position": 97549600, | 4107 "position": 97549600, |
3668 "alleles": [ | 4110 "alleles": [ |
3669 "c.1484A\u003eG" | 4111 "c.1484A\u003eG" |
3670 ], | 4112 ], |
3671 "phased": true, | 4113 "phased": true, |
3672 "wildtypeAllele": "T", | 4114 "wildtypeAllele": "T", |
3673 "mismatch": false | 4115 "mismatch": false, |
4116 "warnings": [] | |
3674 }, | 4117 }, |
3675 { | 4118 { |
3676 "gene": "DPYD", | 4119 "gene": "DPYD", |
3677 "chromosome": "chr1", | 4120 "chromosome": "chr1", |
3678 "position": 97549609, | 4121 "position": 97549609, |
3681 "alleles": [ | 4124 "alleles": [ |
3682 "c.1475C\u003eT" | 4125 "c.1475C\u003eT" |
3683 ], | 4126 ], |
3684 "phased": true, | 4127 "phased": true, |
3685 "wildtypeAllele": "G", | 4128 "wildtypeAllele": "G", |
3686 "mismatch": false | 4129 "mismatch": false, |
4130 "warnings": [] | |
3687 }, | 4131 }, |
3688 { | 4132 { |
3689 "gene": "DPYD", | 4133 "gene": "DPYD", |
3690 "chromosome": "chr1", | 4134 "chromosome": "chr1", |
3691 "position": 97549681, | 4135 "position": 97549681, |
3694 "alleles": [ | 4138 "alleles": [ |
3695 "c.1403C\u003eA" | 4139 "c.1403C\u003eA" |
3696 ], | 4140 ], |
3697 "phased": true, | 4141 "phased": true, |
3698 "wildtypeAllele": "G", | 4142 "wildtypeAllele": "G", |
3699 "mismatch": false | 4143 "mismatch": false, |
4144 "warnings": [] | |
3700 }, | 4145 }, |
3701 { | 4146 { |
3702 "gene": "DPYD", | 4147 "gene": "DPYD", |
3703 "chromosome": "chr1", | 4148 "chromosome": "chr1", |
3704 "position": 97549713, | 4149 "position": 97549713, |
3707 "alleles": [ | 4152 "alleles": [ |
3708 "c.1371C\u003eT" | 4153 "c.1371C\u003eT" |
3709 ], | 4154 ], |
3710 "phased": true, | 4155 "phased": true, |
3711 "wildtypeAllele": "G", | 4156 "wildtypeAllele": "G", |
3712 "mismatch": false | 4157 "mismatch": false, |
4158 "warnings": [] | |
3713 }, | 4159 }, |
3714 { | 4160 { |
3715 "gene": "DPYD", | 4161 "gene": "DPYD", |
3716 "chromosome": "chr1", | 4162 "chromosome": "chr1", |
3717 "position": 97549726, | 4163 "position": 97549726, |
3720 "alleles": [ | 4166 "alleles": [ |
3721 "c.1358C\u003eG" | 4167 "c.1358C\u003eG" |
3722 ], | 4168 ], |
3723 "phased": true, | 4169 "phased": true, |
3724 "wildtypeAllele": "G", | 4170 "wildtypeAllele": "G", |
3725 "mismatch": false | 4171 "mismatch": false, |
4172 "warnings": [] | |
3726 }, | 4173 }, |
3727 { | 4174 { |
3728 "gene": "DPYD", | 4175 "gene": "DPYD", |
3729 "chromosome": "chr1", | 4176 "chromosome": "chr1", |
3730 "position": 97549735, | 4177 "position": 97549735, |
3733 "alleles": [ | 4180 "alleles": [ |
3734 "c.1349C\u003eT" | 4181 "c.1349C\u003eT" |
3735 ], | 4182 ], |
3736 "phased": true, | 4183 "phased": true, |
3737 "wildtypeAllele": "G", | 4184 "wildtypeAllele": "G", |
3738 "mismatch": false | 4185 "mismatch": false, |
4186 "warnings": [] | |
3739 }, | 4187 }, |
3740 { | 4188 { |
3741 "gene": "DPYD", | 4189 "gene": "DPYD", |
3742 "chromosome": "chr1", | 4190 "chromosome": "chr1", |
3743 "position": 97573785, | 4191 "position": 97573785, |
3746 "alleles": [ | 4194 "alleles": [ |
3747 "c.1314T\u003eG" | 4195 "c.1314T\u003eG" |
3748 ], | 4196 ], |
3749 "phased": true, | 4197 "phased": true, |
3750 "wildtypeAllele": "A", | 4198 "wildtypeAllele": "A", |
3751 "mismatch": false | 4199 "mismatch": false, |
4200 "warnings": [] | |
3752 }, | 4201 }, |
3753 { | 4202 { |
3754 "gene": "DPYD", | 4203 "gene": "DPYD", |
3755 "chromosome": "chr1", | 4204 "chromosome": "chr1", |
3756 "position": 97573805, | 4205 "position": 97573805, |
3759 "alleles": [ | 4208 "alleles": [ |
3760 "c.1294G\u003eA" | 4209 "c.1294G\u003eA" |
3761 ], | 4210 ], |
3762 "phased": true, | 4211 "phased": true, |
3763 "wildtypeAllele": "C", | 4212 "wildtypeAllele": "C", |
3764 "mismatch": false | 4213 "mismatch": false, |
4214 "warnings": [] | |
3765 }, | 4215 }, |
3766 { | 4216 { |
3767 "gene": "DPYD", | 4217 "gene": "DPYD", |
3768 "chromosome": "chr1", | 4218 "chromosome": "chr1", |
3769 "position": 97573821, | 4219 "position": 97573821, |
3772 "alleles": [ | 4222 "alleles": [ |
3773 "c.1278G\u003eT" | 4223 "c.1278G\u003eT" |
3774 ], | 4224 ], |
3775 "phased": true, | 4225 "phased": true, |
3776 "wildtypeAllele": "C", | 4226 "wildtypeAllele": "C", |
3777 "mismatch": false | 4227 "mismatch": false, |
4228 "warnings": [] | |
3778 }, | 4229 }, |
3779 { | 4230 { |
3780 "gene": "DPYD", | 4231 "gene": "DPYD", |
3781 "chromosome": "chr1", | 4232 "chromosome": "chr1", |
3782 "position": 97573839, | 4233 "position": 97573839, |
3785 "alleles": [ | 4236 "alleles": [ |
3786 "c.1260T\u003eA" | 4237 "c.1260T\u003eA" |
3787 ], | 4238 ], |
3788 "phased": true, | 4239 "phased": true, |
3789 "wildtypeAllele": "A", | 4240 "wildtypeAllele": "A", |
3790 "mismatch": false | 4241 "mismatch": false, |
4242 "warnings": [] | |
3791 }, | 4243 }, |
3792 { | 4244 { |
3793 "gene": "DPYD", | 4245 "gene": "DPYD", |
3794 "chromosome": "chr1", | 4246 "chromosome": "chr1", |
3795 "position": 97573863, | 4247 "position": 97573863, |
3798 "alleles": [ | 4250 "alleles": [ |
3799 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4251 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
3800 ], | 4252 ], |
3801 "phased": true, | 4253 "phased": true, |
3802 "wildtypeAllele": "C", | 4254 "wildtypeAllele": "C", |
3803 "mismatch": false | 4255 "mismatch": false, |
4256 "warnings": [] | |
3804 }, | 4257 }, |
3805 { | 4258 { |
3806 "gene": "DPYD", | 4259 "gene": "DPYD", |
3807 "chromosome": "chr1", | 4260 "chromosome": "chr1", |
3808 "position": 97573881, | 4261 "position": 97573881, |
3811 "alleles": [ | 4264 "alleles": [ |
3812 "c.1218G\u003eA" | 4265 "c.1218G\u003eA" |
3813 ], | 4266 ], |
3814 "phased": true, | 4267 "phased": true, |
3815 "wildtypeAllele": "C", | 4268 "wildtypeAllele": "C", |
3816 "mismatch": false | 4269 "mismatch": false, |
4270 "warnings": [] | |
3817 }, | 4271 }, |
3818 { | 4272 { |
3819 "gene": "DPYD", | 4273 "gene": "DPYD", |
3820 "chromosome": "chr1", | 4274 "chromosome": "chr1", |
3821 "position": 97573918, | 4275 "position": 97573918, |
3824 "alleles": [ | 4278 "alleles": [ |
3825 "c.1181G\u003eT" | 4279 "c.1181G\u003eT" |
3826 ], | 4280 ], |
3827 "phased": true, | 4281 "phased": true, |
3828 "wildtypeAllele": "C", | 4282 "wildtypeAllele": "C", |
3829 "mismatch": false | 4283 "mismatch": false, |
4284 "warnings": [] | |
3830 }, | 4285 }, |
3831 { | 4286 { |
3832 "gene": "DPYD", | 4287 "gene": "DPYD", |
3833 "chromosome": "chr1", | 4288 "chromosome": "chr1", |
3834 "position": 97573919, | 4289 "position": 97573919, |
3837 "alleles": [ | 4292 "alleles": [ |
3838 "c.1180C\u003eT" | 4293 "c.1180C\u003eT" |
3839 ], | 4294 ], |
3840 "phased": true, | 4295 "phased": true, |
3841 "wildtypeAllele": "G", | 4296 "wildtypeAllele": "G", |
3842 "mismatch": false | 4297 "mismatch": false, |
4298 "warnings": [] | |
3843 }, | 4299 }, |
3844 { | 4300 { |
3845 "gene": "DPYD", | 4301 "gene": "DPYD", |
3846 "chromosome": "chr1", | 4302 "chromosome": "chr1", |
3847 "position": 97573943, | 4303 "position": 97573943, |
3850 "alleles": [ | 4306 "alleles": [ |
3851 "c.1156G\u003eT (*12)" | 4307 "c.1156G\u003eT (*12)" |
3852 ], | 4308 ], |
3853 "phased": true, | 4309 "phased": true, |
3854 "wildtypeAllele": "C", | 4310 "wildtypeAllele": "C", |
3855 "mismatch": false | 4311 "mismatch": false, |
4312 "warnings": [] | |
3856 }, | 4313 }, |
3857 { | 4314 { |
3858 "gene": "DPYD", | 4315 "gene": "DPYD", |
3859 "chromosome": "chr1", | 4316 "chromosome": "chr1", |
3860 "position": 97579893, | 4317 "position": 97579893, |
3863 "alleles": [ | 4320 "alleles": [ |
3864 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4321 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
3865 ], | 4322 ], |
3866 "phased": true, | 4323 "phased": true, |
3867 "wildtypeAllele": "G", | 4324 "wildtypeAllele": "G", |
3868 "mismatch": false | 4325 "mismatch": false, |
4326 "warnings": [] | |
3869 }, | 4327 }, |
3870 { | 4328 { |
3871 "gene": "DPYD", | 4329 "gene": "DPYD", |
3872 "chromosome": "chr1", | 4330 "chromosome": "chr1", |
3873 "position": 97593238, | 4331 "position": 97593238, |
3876 "alleles": [ | 4334 "alleles": [ |
3877 "c.1108A\u003eG" | 4335 "c.1108A\u003eG" |
3878 ], | 4336 ], |
3879 "phased": true, | 4337 "phased": true, |
3880 "wildtypeAllele": "T", | 4338 "wildtypeAllele": "T", |
3881 "mismatch": false | 4339 "mismatch": false, |
4340 "warnings": [] | |
3882 }, | 4341 }, |
3883 { | 4342 { |
3884 "gene": "DPYD", | 4343 "gene": "DPYD", |
3885 "chromosome": "chr1", | 4344 "chromosome": "chr1", |
3886 "position": 97593289, | 4345 "position": 97593289, |
3889 "alleles": [ | 4348 "alleles": [ |
3890 "c.1057C\u003eT" | 4349 "c.1057C\u003eT" |
3891 ], | 4350 ], |
3892 "phased": true, | 4351 "phased": true, |
3893 "wildtypeAllele": "G", | 4352 "wildtypeAllele": "G", |
3894 "mismatch": false | 4353 "mismatch": false, |
4354 "warnings": [] | |
3895 }, | 4355 }, |
3896 { | 4356 { |
3897 "gene": "DPYD", | 4357 "gene": "DPYD", |
3898 "chromosome": "chr1", | 4358 "chromosome": "chr1", |
3899 "position": 97593322, | 4359 "position": 97593322, |
3902 "alleles": [ | 4362 "alleles": [ |
3903 "c.1024G\u003eA" | 4363 "c.1024G\u003eA" |
3904 ], | 4364 ], |
3905 "phased": true, | 4365 "phased": true, |
3906 "wildtypeAllele": "C", | 4366 "wildtypeAllele": "C", |
3907 "mismatch": false | 4367 "mismatch": false, |
4368 "warnings": [] | |
3908 }, | 4369 }, |
3909 { | 4370 { |
3910 "gene": "DPYD", | 4371 "gene": "DPYD", |
3911 "chromosome": "chr1", | 4372 "chromosome": "chr1", |
3912 "position": 97593343, | 4373 "position": 97593343, |
3915 "alleles": [ | 4376 "alleles": [ |
3916 "c.1003G\u003eT (*11)" | 4377 "c.1003G\u003eT (*11)" |
3917 ], | 4378 ], |
3918 "phased": true, | 4379 "phased": true, |
3919 "wildtypeAllele": "C", | 4380 "wildtypeAllele": "C", |
3920 "mismatch": false | 4381 "mismatch": false, |
4382 "warnings": [] | |
3921 }, | 4383 }, |
3922 { | 4384 { |
3923 "gene": "DPYD", | 4385 "gene": "DPYD", |
3924 "chromosome": "chr1", | 4386 "chromosome": "chr1", |
3925 "position": 97593379, | 4387 "position": 97593379, |
3928 "alleles": [ | 4390 "alleles": [ |
3929 "c.967G\u003eA" | 4391 "c.967G\u003eA" |
3930 ], | 4392 ], |
3931 "phased": true, | 4393 "phased": true, |
3932 "wildtypeAllele": "C", | 4394 "wildtypeAllele": "C", |
3933 "mismatch": false | 4395 "mismatch": false, |
4396 "warnings": [] | |
3934 }, | 4397 }, |
3935 { | 4398 { |
3936 "gene": "DPYD", | 4399 "gene": "DPYD", |
3937 "chromosome": "chr1", | 4400 "chromosome": "chr1", |
3938 "position": 97595083, | 4401 "position": 97595083, |
3941 "alleles": [ | 4404 "alleles": [ |
3942 "c.934C\u003eT" | 4405 "c.934C\u003eT" |
3943 ], | 4406 ], |
3944 "phased": true, | 4407 "phased": true, |
3945 "wildtypeAllele": "G", | 4408 "wildtypeAllele": "G", |
3946 "mismatch": false | 4409 "mismatch": false, |
4410 "warnings": [] | |
3947 }, | 4411 }, |
3948 { | 4412 { |
3949 "gene": "DPYD", | 4413 "gene": "DPYD", |
3950 "chromosome": "chr1", | 4414 "chromosome": "chr1", |
3951 "position": 97595088, | 4415 "position": 97595088, |
3954 "alleles": [ | 4418 "alleles": [ |
3955 "c.929T\u003eC" | 4419 "c.929T\u003eC" |
3956 ], | 4420 ], |
3957 "phased": true, | 4421 "phased": true, |
3958 "wildtypeAllele": "A", | 4422 "wildtypeAllele": "A", |
3959 "mismatch": false | 4423 "mismatch": false, |
4424 "warnings": [] | |
3960 }, | 4425 }, |
3961 { | 4426 { |
3962 "gene": "DPYD", | 4427 "gene": "DPYD", |
3963 "chromosome": "chr1", | 4428 "chromosome": "chr1", |
3964 "position": 97595149, | 4429 "position": 97595149, |
3967 "alleles": [ | 4432 "alleles": [ |
3968 "c.868A\u003eG" | 4433 "c.868A\u003eG" |
3969 ], | 4434 ], |
3970 "phased": true, | 4435 "phased": true, |
3971 "wildtypeAllele": "T", | 4436 "wildtypeAllele": "T", |
3972 "mismatch": false | 4437 "mismatch": false, |
4438 "warnings": [] | |
3973 }, | 4439 }, |
3974 { | 4440 { |
3975 "gene": "DPYD", | 4441 "gene": "DPYD", |
3976 "chromosome": "chr1", | 4442 "chromosome": "chr1", |
3977 "position": 97679170, | 4443 "position": 97679170, |
3980 "alleles": [ | 4446 "alleles": [ |
3981 "c.775A\u003eG" | 4447 "c.775A\u003eG" |
3982 ], | 4448 ], |
3983 "phased": true, | 4449 "phased": true, |
3984 "wildtypeAllele": "T", | 4450 "wildtypeAllele": "T", |
3985 "mismatch": false | 4451 "mismatch": false, |
4452 "warnings": [] | |
3986 }, | 4453 }, |
3987 { | 4454 { |
3988 "gene": "DPYD", | 4455 "gene": "DPYD", |
3989 "chromosome": "chr1", | 4456 "chromosome": "chr1", |
3990 "position": 97691776, | 4457 "position": 97691776, |
3993 "alleles": [ | 4460 "alleles": [ |
3994 "c.703C\u003eT (*8)" | 4461 "c.703C\u003eT (*8)" |
3995 ], | 4462 ], |
3996 "phased": true, | 4463 "phased": true, |
3997 "wildtypeAllele": "G", | 4464 "wildtypeAllele": "G", |
3998 "mismatch": false | 4465 "mismatch": false, |
4466 "warnings": [] | |
3999 }, | 4467 }, |
4000 { | 4468 { |
4001 "gene": "DPYD", | 4469 "gene": "DPYD", |
4002 "chromosome": "chr1", | 4470 "chromosome": "chr1", |
4003 "position": 97699399, | 4471 "position": 97699399, |
4006 "alleles": [ | 4474 "alleles": [ |
4007 "c.632A\u003eG" | 4475 "c.632A\u003eG" |
4008 ], | 4476 ], |
4009 "phased": true, | 4477 "phased": true, |
4010 "wildtypeAllele": "T", | 4478 "wildtypeAllele": "T", |
4011 "mismatch": false | 4479 "mismatch": false, |
4480 "warnings": [] | |
4012 }, | 4481 }, |
4013 { | 4482 { |
4014 "gene": "DPYD", | 4483 "gene": "DPYD", |
4015 "chromosome": "chr1", | 4484 "chromosome": "chr1", |
4016 "position": 97699430, | 4485 "position": 97699430, |
4019 "alleles": [ | 4488 "alleles": [ |
4020 "c.601A\u003eC" | 4489 "c.601A\u003eC" |
4021 ], | 4490 ], |
4022 "phased": true, | 4491 "phased": true, |
4023 "wildtypeAllele": "T", | 4492 "wildtypeAllele": "T", |
4024 "mismatch": false | 4493 "mismatch": false, |
4494 "warnings": [] | |
4025 }, | 4495 }, |
4026 { | 4496 { |
4027 "gene": "DPYD", | 4497 "gene": "DPYD", |
4028 "chromosome": "chr1", | 4498 "chromosome": "chr1", |
4029 "position": 97699474, | 4499 "position": 97699474, |
4032 "alleles": [ | 4502 "alleles": [ |
4033 "c.557A\u003eG" | 4503 "c.557A\u003eG" |
4034 ], | 4504 ], |
4035 "phased": true, | 4505 "phased": true, |
4036 "wildtypeAllele": "T", | 4506 "wildtypeAllele": "T", |
4037 "mismatch": false | 4507 "mismatch": false, |
4508 "warnings": [] | |
4038 }, | 4509 }, |
4039 { | 4510 { |
4040 "gene": "DPYD", | 4511 "gene": "DPYD", |
4041 "chromosome": "chr1", | 4512 "chromosome": "chr1", |
4042 "position": 97699506, | 4513 "position": 97699506, |
4045 "alleles": [ | 4516 "alleles": [ |
4046 "c.525G\u003eA" | 4517 "c.525G\u003eA" |
4047 ], | 4518 ], |
4048 "phased": true, | 4519 "phased": true, |
4049 "wildtypeAllele": "C", | 4520 "wildtypeAllele": "C", |
4050 "mismatch": false | 4521 "mismatch": false, |
4522 "warnings": [] | |
4051 }, | 4523 }, |
4052 { | 4524 { |
4053 "gene": "DPYD", | 4525 "gene": "DPYD", |
4054 "chromosome": "chr1", | 4526 "chromosome": "chr1", |
4055 "position": 97699533, | 4527 "position": 97699533, |
4058 "alleles": [ | 4530 "alleles": [ |
4059 "c.498G\u003eA" | 4531 "c.498G\u003eA" |
4060 ], | 4532 ], |
4061 "phased": true, | 4533 "phased": true, |
4062 "wildtypeAllele": "C", | 4534 "wildtypeAllele": "C", |
4063 "mismatch": false | 4535 "mismatch": false, |
4536 "warnings": [] | |
4064 }, | 4537 }, |
4065 { | 4538 { |
4066 "gene": "DPYD", | 4539 "gene": "DPYD", |
4067 "chromosome": "chr1", | 4540 "chromosome": "chr1", |
4068 "position": 97699535, | 4541 "position": 97699535, |
4071 "alleles": [ | 4544 "alleles": [ |
4072 "c.496A\u003eG" | 4545 "c.496A\u003eG" |
4073 ], | 4546 ], |
4074 "phased": true, | 4547 "phased": true, |
4075 "wildtypeAllele": "T", | 4548 "wildtypeAllele": "T", |
4076 "mismatch": false | 4549 "mismatch": false, |
4550 "warnings": [] | |
4077 }, | 4551 }, |
4078 { | 4552 { |
4079 "gene": "DPYD", | 4553 "gene": "DPYD", |
4080 "chromosome": "chr1", | 4554 "chromosome": "chr1", |
4081 "position": 97721542, | 4555 "position": 97721542, |
4084 "alleles": [ | 4558 "alleles": [ |
4085 "c.451A\u003eG" | 4559 "c.451A\u003eG" |
4086 ], | 4560 ], |
4087 "phased": true, | 4561 "phased": true, |
4088 "wildtypeAllele": "T", | 4562 "wildtypeAllele": "T", |
4089 "mismatch": false | 4563 "mismatch": false, |
4564 "warnings": [] | |
4090 }, | 4565 }, |
4091 { | 4566 { |
4092 "gene": "DPYD", | 4567 "gene": "DPYD", |
4093 "chromosome": "chr1", | 4568 "chromosome": "chr1", |
4094 "position": 97721650, | 4569 "position": 97721650, |
4097 "alleles": [ | 4572 "alleles": [ |
4098 "c.343A\u003eG" | 4573 "c.343A\u003eG" |
4099 ], | 4574 ], |
4100 "phased": true, | 4575 "phased": true, |
4101 "wildtypeAllele": "T", | 4576 "wildtypeAllele": "T", |
4102 "mismatch": false | 4577 "mismatch": false, |
4578 "warnings": [] | |
4103 }, | 4579 }, |
4104 { | 4580 { |
4105 "gene": "DPYD", | 4581 "gene": "DPYD", |
4106 "chromosome": "chr1", | 4582 "chromosome": "chr1", |
4107 "position": 97740400, | 4583 "position": 97740400, |
4110 "alleles": [ | 4586 "alleles": [ |
4111 "c.313G\u003eA" | 4587 "c.313G\u003eA" |
4112 ], | 4588 ], |
4113 "phased": true, | 4589 "phased": true, |
4114 "wildtypeAllele": "C", | 4590 "wildtypeAllele": "C", |
4115 "mismatch": false | 4591 "mismatch": false, |
4592 "warnings": [] | |
4116 }, | 4593 }, |
4117 { | 4594 { |
4118 "gene": "DPYD", | 4595 "gene": "DPYD", |
4119 "chromosome": "chr1", | 4596 "chromosome": "chr1", |
4120 "position": 97740410, | 4597 "position": 97740410, |
4123 "alleles": [ | 4600 "alleles": [ |
4124 "c.295_298delTCAT (*7)" | 4601 "c.295_298delTCAT (*7)" |
4125 ], | 4602 ], |
4126 "phased": true, | 4603 "phased": true, |
4127 "wildtypeAllele": "GATGA", | 4604 "wildtypeAllele": "GATGA", |
4128 "mismatch": false | 4605 "mismatch": false, |
4606 "warnings": [] | |
4129 }, | 4607 }, |
4130 { | 4608 { |
4131 "gene": "DPYD", | 4609 "gene": "DPYD", |
4132 "chromosome": "chr1", | 4610 "chromosome": "chr1", |
4133 "position": 97883329, | 4611 "position": 97883329, |
4136 "alleles": [ | 4614 "alleles": [ |
4137 "c.85T\u003eC (*9A)" | 4615 "c.85T\u003eC (*9A)" |
4138 ], | 4616 ], |
4139 "phased": true, | 4617 "phased": true, |
4140 "wildtypeAllele": "A", | 4618 "wildtypeAllele": "A", |
4141 "mismatch": false | 4619 "mismatch": false, |
4620 "warnings": [] | |
4142 }, | 4621 }, |
4143 { | 4622 { |
4144 "gene": "DPYD", | 4623 "gene": "DPYD", |
4145 "chromosome": "chr1", | 4624 "chromosome": "chr1", |
4146 "position": 97883352, | 4625 "position": 97883352, |
4149 "alleles": [ | 4628 "alleles": [ |
4150 "c.62G\u003eA" | 4629 "c.62G\u003eA" |
4151 ], | 4630 ], |
4152 "phased": true, | 4631 "phased": true, |
4153 "wildtypeAllele": "C", | 4632 "wildtypeAllele": "C", |
4154 "mismatch": false | 4633 "mismatch": false, |
4634 "warnings": [] | |
4155 }, | 4635 }, |
4156 { | 4636 { |
4157 "gene": "DPYD", | 4637 "gene": "DPYD", |
4158 "chromosome": "chr1", | 4638 "chromosome": "chr1", |
4159 "position": 97883353, | 4639 "position": 97883353, |
4162 "alleles": [ | 4642 "alleles": [ |
4163 "c.61C\u003eT" | 4643 "c.61C\u003eT" |
4164 ], | 4644 ], |
4165 "phased": true, | 4645 "phased": true, |
4166 "wildtypeAllele": "G", | 4646 "wildtypeAllele": "G", |
4167 "mismatch": false | 4647 "mismatch": false, |
4648 "warnings": [] | |
4168 }, | 4649 }, |
4169 { | 4650 { |
4170 "gene": "DPYD", | 4651 "gene": "DPYD", |
4171 "chromosome": "chr1", | 4652 "chromosome": "chr1", |
4172 "position": 97883368, | 4653 "position": 97883368, |
4175 "alleles": [ | 4656 "alleles": [ |
4176 "c.46C\u003eG" | 4657 "c.46C\u003eG" |
4177 ], | 4658 ], |
4178 "phased": true, | 4659 "phased": true, |
4179 "wildtypeAllele": "G", | 4660 "wildtypeAllele": "G", |
4180 "mismatch": false | 4661 "mismatch": false, |
4662 "warnings": [] | |
4181 } | 4663 } |
4182 ], | 4664 ], |
4183 "variantsOfInterest": [], | 4665 "variantsOfInterest": [], |
4184 "highlightedVariants": [] | 4666 "highlightedVariants": [] |
4185 }, | 4667 }, |
4189 "phased": false, | 4671 "phased": false, |
4190 "callSource": "OUTSIDE", | 4672 "callSource": "OUTSIDE", |
4191 "uncalledHaplotypes": [], | 4673 "uncalledHaplotypes": [], |
4192 "messages": [], | 4674 "messages": [], |
4193 "relatedDrugs": [], | 4675 "relatedDrugs": [], |
4194 "matcherDiplotypes": [ | 4676 "matcherDiplotypes": [], |
4677 "diplotypes": [ | |
4195 { | 4678 { |
4196 "allele1": { | 4679 "allele1": { |
4197 "gene": "G6PD", | 4680 "gene": "G6PD", |
4198 "name": "B (wildtype)", | 4681 "name": "B (wildtype)", |
4199 "function": "Normal function", | 4682 "function": "Normal function", |
4204 "name": "B (wildtype)", | 4687 "name": "B (wildtype)", |
4205 "function": "Normal function", | 4688 "function": "Normal function", |
4206 "reference": true | 4689 "reference": true |
4207 }, | 4690 }, |
4208 "gene": "G6PD", | 4691 "gene": "G6PD", |
4209 "phenotype": "Normal", | 4692 "phenotypes": [ |
4693 "Normal" | |
4694 ], | |
4210 "variant": null, | 4695 "variant": null, |
4211 "lookupKey": "Normal", | 4696 "lookupKey": [ |
4212 "label": "B (wildtype)/B (wildtype)" | 4697 "Normal" |
4213 } | 4698 ], |
4214 ], | |
4215 "diplotypes": [ | |
4216 { | |
4217 "allele1": { | |
4218 "gene": "G6PD", | |
4219 "name": "B (wildtype)", | |
4220 "function": "Normal function", | |
4221 "reference": true | |
4222 }, | |
4223 "allele2": { | |
4224 "gene": "G6PD", | |
4225 "name": "B (wildtype)", | |
4226 "function": "Normal function", | |
4227 "reference": true | |
4228 }, | |
4229 "gene": "G6PD", | |
4230 "phenotype": "Normal", | |
4231 "variant": null, | |
4232 "lookupKey": "Normal", | |
4233 "label": "B (wildtype)/B (wildtype)" | 4699 "label": "B (wildtype)/B (wildtype)" |
4234 } | 4700 } |
4235 ], | 4701 ], |
4236 "variants": [], | 4702 "variants": [], |
4237 "variantsOfInterest": [], | 4703 "variantsOfInterest": [], |
4274 "name": "rs12979860 reference (C)", | 4740 "name": "rs12979860 reference (C)", |
4275 "function": null, | 4741 "function": null, |
4276 "reference": true | 4742 "reference": true |
4277 }, | 4743 }, |
4278 "gene": "IFNL3", | 4744 "gene": "IFNL3", |
4279 "phenotype": null, | 4745 "phenotypes": [], |
4280 "variant": null, | 4746 "variant": null, |
4281 "lookupKey": null, | 4747 "lookupKey": [], |
4282 "label": "rs12979860 reference (C)/rs12979860 reference (C)" | 4748 "label": "rs12979860 reference (C)/rs12979860 reference (C)" |
4283 } | 4749 } |
4284 ], | 4750 ], |
4285 "diplotypes": [ | 4751 "diplotypes": [ |
4286 { | 4752 { |
4295 "name": "rs12979860 reference (C)", | 4761 "name": "rs12979860 reference (C)", |
4296 "function": null, | 4762 "function": null, |
4297 "reference": true | 4763 "reference": true |
4298 }, | 4764 }, |
4299 "gene": "IFNL3", | 4765 "gene": "IFNL3", |
4300 "phenotype": null, | 4766 "phenotypes": [], |
4301 "variant": null, | 4767 "variant": null, |
4302 "lookupKey": null, | 4768 "lookupKey": [], |
4303 "label": "rs12979860 reference (C)/rs12979860 reference (C)" | 4769 "label": "rs12979860 reference (C)/rs12979860 reference (C)" |
4304 } | 4770 } |
4305 ], | 4771 ], |
4306 "variants": [ | 4772 "variants": [ |
4307 { | 4773 { |
4313 "alleles": [ | 4779 "alleles": [ |
4314 "rs12979860 variant (T)" | 4780 "rs12979860 variant (T)" |
4315 ], | 4781 ], |
4316 "phased": true, | 4782 "phased": true, |
4317 "wildtypeAllele": "C", | 4783 "wildtypeAllele": "C", |
4318 "mismatch": false | 4784 "mismatch": false, |
4785 "warnings": [] | |
4319 } | 4786 } |
4320 ], | 4787 ], |
4321 "variantsOfInterest": [], | 4788 "variantsOfInterest": [], |
4322 "highlightedVariants": [] | 4789 "highlightedVariants": [] |
4323 }, | 4790 }, |
4327 "phased": false, | 4794 "phased": false, |
4328 "callSource": "OUTSIDE", | 4795 "callSource": "OUTSIDE", |
4329 "uncalledHaplotypes": [], | 4796 "uncalledHaplotypes": [], |
4330 "messages": [], | 4797 "messages": [], |
4331 "relatedDrugs": [], | 4798 "relatedDrugs": [], |
4332 "matcherDiplotypes": [ | 4799 "matcherDiplotypes": [], |
4800 "diplotypes": [ | |
4333 { | 4801 { |
4334 "allele1": { | 4802 "allele1": { |
4335 "gene": "MT-RNR1", | 4803 "gene": "MT-RNR1", |
4336 "name": "1555A\u003eG", | 4804 "name": "1555A\u003eG", |
4337 "function": "increased risk of aminoglycoside-induced hearing loss", | 4805 "function": "increased risk of aminoglycoside-induced hearing loss", |
4338 "reference": false | 4806 "reference": false |
4339 }, | 4807 }, |
4340 "allele2": null, | 4808 "allele2": null, |
4341 "gene": "MT-RNR1", | 4809 "gene": "MT-RNR1", |
4342 "phenotype": "increased risk of aminoglycoside-induced hearing loss", | 4810 "phenotypes": [ |
4811 "increased risk of aminoglycoside-induced hearing loss" | |
4812 ], | |
4343 "variant": null, | 4813 "variant": null, |
4344 "lookupKey": "increased risk of aminoglycoside-induced hearing loss", | 4814 "lookupKey": [ |
4345 "label": "1555A\u003eG" | 4815 "increased risk of aminoglycoside-induced hearing loss" |
4346 } | 4816 ], |
4347 ], | |
4348 "diplotypes": [ | |
4349 { | |
4350 "allele1": { | |
4351 "gene": "MT-RNR1", | |
4352 "name": "1555A\u003eG", | |
4353 "function": "increased risk of aminoglycoside-induced hearing loss", | |
4354 "reference": false | |
4355 }, | |
4356 "allele2": null, | |
4357 "gene": "MT-RNR1", | |
4358 "phenotype": "increased risk of aminoglycoside-induced hearing loss", | |
4359 "variant": null, | |
4360 "lookupKey": "increased risk of aminoglycoside-induced hearing loss", | |
4361 "label": "1555A\u003eG" | 4817 "label": "1555A\u003eG" |
4362 } | 4818 } |
4363 ], | 4819 ], |
4364 "variants": [], | 4820 "variants": [], |
4365 "variantsOfInterest": [], | 4821 "variantsOfInterest": [], |
4386 "name": "*1", | 4842 "name": "*1", |
4387 "function": "Normal Function", | 4843 "function": "Normal Function", |
4388 "reference": true | 4844 "reference": true |
4389 }, | 4845 }, |
4390 "gene": "NUDT15", | 4846 "gene": "NUDT15", |
4391 "phenotype": "Normal Metabolizer", | 4847 "phenotypes": [ |
4848 "Normal Metabolizer" | |
4849 ], | |
4392 "variant": null, | 4850 "variant": null, |
4393 "lookupKey": "Normal Metabolizer", | 4851 "lookupKey": [ |
4852 "Normal Metabolizer" | |
4853 ], | |
4394 "label": "*1/*1" | 4854 "label": "*1/*1" |
4395 } | 4855 } |
4396 ], | 4856 ], |
4397 "diplotypes": [ | 4857 "diplotypes": [ |
4398 { | 4858 { |
4407 "name": "*1", | 4867 "name": "*1", |
4408 "function": "Normal Function", | 4868 "function": "Normal Function", |
4409 "reference": true | 4869 "reference": true |
4410 }, | 4870 }, |
4411 "gene": "NUDT15", | 4871 "gene": "NUDT15", |
4412 "phenotype": "Normal Metabolizer", | 4872 "phenotypes": [ |
4873 "Normal Metabolizer" | |
4874 ], | |
4413 "variant": null, | 4875 "variant": null, |
4414 "lookupKey": "Normal Metabolizer", | 4876 "lookupKey": [ |
4877 "Normal Metabolizer" | |
4878 ], | |
4415 "label": "*1/*1" | 4879 "label": "*1/*1" |
4416 } | 4880 } |
4417 ], | 4881 ], |
4418 "variants": [ | 4882 "variants": [ |
4419 { | 4883 { |
4425 "alleles": [ | 4889 "alleles": [ |
4426 "*10" | 4890 "*10" |
4427 ], | 4891 ], |
4428 "phased": true, | 4892 "phased": true, |
4429 "wildtypeAllele": "T", | 4893 "wildtypeAllele": "T", |
4430 "mismatch": false | 4894 "mismatch": false, |
4895 "warnings": [] | |
4431 }, | 4896 }, |
4432 { | 4897 { |
4433 "gene": "NUDT15", | 4898 "gene": "NUDT15", |
4434 "chromosome": "chr13", | 4899 "chromosome": "chr13", |
4435 "position": 48037749, | 4900 "position": 48037749, |
4438 "alleles": [ | 4903 "alleles": [ |
4439 "*19" | 4904 "*19" |
4440 ], | 4905 ], |
4441 "phased": true, | 4906 "phased": true, |
4442 "wildtypeAllele": "G", | 4907 "wildtypeAllele": "G", |
4443 "mismatch": false | 4908 "mismatch": false, |
4909 "warnings": [] | |
4444 }, | 4910 }, |
4445 { | 4911 { |
4446 "gene": "NUDT15", | 4912 "gene": "NUDT15", |
4447 "chromosome": "chr13", | 4913 "chromosome": "chr13", |
4448 "position": 48037782, | 4914 "position": 48037782, |
4453 "*6", | 4919 "*6", |
4454 "*9" | 4920 "*9" |
4455 ], | 4921 ], |
4456 "phased": true, | 4922 "phased": true, |
4457 "wildtypeAllele": "AGGAGTC", | 4923 "wildtypeAllele": "AGGAGTC", |
4458 "mismatch": false | 4924 "mismatch": false, |
4925 "warnings": [] | |
4459 }, | 4926 }, |
4460 { | 4927 { |
4461 "gene": "NUDT15", | 4928 "gene": "NUDT15", |
4462 "chromosome": "chr13", | 4929 "chromosome": "chr13", |
4463 "position": 48037798, | 4930 "position": 48037798, |
4466 "alleles": [ | 4933 "alleles": [ |
4467 "*5" | 4934 "*5" |
4468 ], | 4935 ], |
4469 "phased": true, | 4936 "phased": true, |
4470 "wildtypeAllele": "G", | 4937 "wildtypeAllele": "G", |
4471 "mismatch": false | 4938 "mismatch": false, |
4939 "warnings": [] | |
4472 }, | 4940 }, |
4473 { | 4941 { |
4474 "gene": "NUDT15", | 4942 "gene": "NUDT15", |
4475 "chromosome": "chr13", | 4943 "chromosome": "chr13", |
4476 "position": 48037825, | 4944 "position": 48037825, |
4479 "alleles": [ | 4947 "alleles": [ |
4480 "*14" | 4948 "*14" |
4481 ], | 4949 ], |
4482 "phased": true, | 4950 "phased": true, |
4483 "wildtypeAllele": "C", | 4951 "wildtypeAllele": "C", |
4484 "mismatch": false | 4952 "mismatch": false, |
4953 "warnings": [] | |
4485 }, | 4954 }, |
4486 { | 4955 { |
4487 "gene": "NUDT15", | 4956 "gene": "NUDT15", |
4488 "chromosome": "chr13", | 4957 "chromosome": "chr13", |
4489 "position": 48037834, | 4958 "position": 48037834, |
4492 "alleles": [ | 4961 "alleles": [ |
4493 "*16" | 4962 "*16" |
4494 ], | 4963 ], |
4495 "phased": true, | 4964 "phased": true, |
4496 "wildtypeAllele": "C", | 4965 "wildtypeAllele": "C", |
4497 "mismatch": false | 4966 "mismatch": false, |
4967 "warnings": [] | |
4498 }, | 4968 }, |
4499 { | 4969 { |
4500 "gene": "NUDT15", | 4970 "gene": "NUDT15", |
4501 "chromosome": "chr13", | 4971 "chromosome": "chr13", |
4502 "position": 48037847, | 4972 "position": 48037847, |
4505 "alleles": [ | 4975 "alleles": [ |
4506 "*7" | 4976 "*7" |
4507 ], | 4977 ], |
4508 "phased": true, | 4978 "phased": true, |
4509 "wildtypeAllele": "G", | 4979 "wildtypeAllele": "G", |
4510 "mismatch": false | 4980 "mismatch": false, |
4981 "warnings": [] | |
4511 }, | 4982 }, |
4512 { | 4983 { |
4513 "gene": "NUDT15", | 4984 "gene": "NUDT15", |
4514 "chromosome": "chr13", | 4985 "chromosome": "chr13", |
4515 "position": 48037849, | 4986 "position": 48037849, |
4518 "alleles": [ | 4989 "alleles": [ |
4519 "*8" | 4990 "*8" |
4520 ], | 4991 ], |
4521 "phased": true, | 4992 "phased": true, |
4522 "wildtypeAllele": "A", | 4993 "wildtypeAllele": "A", |
4523 "mismatch": false | 4994 "mismatch": false, |
4995 "warnings": [] | |
4524 }, | 4996 }, |
4525 { | 4997 { |
4526 "gene": "NUDT15", | 4998 "gene": "NUDT15", |
4527 "chromosome": "chr13", | 4999 "chromosome": "chr13", |
4528 "position": 48037885, | 5000 "position": 48037885, |
4531 "alleles": [ | 5003 "alleles": [ |
4532 "*11" | 5004 "*11" |
4533 ], | 5005 ], |
4534 "phased": true, | 5006 "phased": true, |
4535 "wildtypeAllele": "G", | 5007 "wildtypeAllele": "G", |
4536 "mismatch": false | 5008 "mismatch": false, |
5009 "warnings": [] | |
4537 }, | 5010 }, |
4538 { | 5011 { |
4539 "gene": "NUDT15", | 5012 "gene": "NUDT15", |
4540 "chromosome": "chr13", | 5013 "chromosome": "chr13", |
4541 "position": 48037902, | 5014 "position": 48037902, |
4544 "alleles": [ | 5017 "alleles": [ |
4545 "*12" | 5018 "*12" |
4546 ], | 5019 ], |
4547 "phased": true, | 5020 "phased": true, |
4548 "wildtypeAllele": "C", | 5021 "wildtypeAllele": "C", |
4549 "mismatch": false | 5022 "mismatch": false, |
5023 "warnings": [] | |
4550 }, | 5024 }, |
4551 { | 5025 { |
4552 "gene": "NUDT15", | 5026 "gene": "NUDT15", |
4553 "chromosome": "chr13", | 5027 "chromosome": "chr13", |
4554 "position": 48040977, | 5028 "position": 48040977, |
4557 "alleles": [ | 5031 "alleles": [ |
4558 "*18" | 5032 "*18" |
4559 ], | 5033 ], |
4560 "phased": true, | 5034 "phased": true, |
4561 "wildtypeAllele": "GA", | 5035 "wildtypeAllele": "GA", |
4562 "mismatch": false | 5036 "mismatch": false, |
5037 "warnings": [] | |
4563 }, | 5038 }, |
4564 { | 5039 { |
4565 "gene": "NUDT15", | 5040 "gene": "NUDT15", |
4566 "chromosome": "chr13", | 5041 "chromosome": "chr13", |
4567 "position": 48041103, | 5042 "position": 48041103, |
4570 "alleles": [ | 5045 "alleles": [ |
4571 "*13" | 5046 "*13" |
4572 ], | 5047 ], |
4573 "phased": true, | 5048 "phased": true, |
4574 "wildtypeAllele": "T", | 5049 "wildtypeAllele": "T", |
4575 "mismatch": false | 5050 "mismatch": false, |
5051 "warnings": [] | |
4576 }, | 5052 }, |
4577 { | 5053 { |
4578 "gene": "NUDT15", | 5054 "gene": "NUDT15", |
4579 "chromosome": "chr13", | 5055 "chromosome": "chr13", |
4580 "position": 48041113, | 5056 "position": 48041113, |
4583 "alleles": [ | 5059 "alleles": [ |
4584 "*17" | 5060 "*17" |
4585 ], | 5061 ], |
4586 "phased": true, | 5062 "phased": true, |
4587 "wildtypeAllele": "G", | 5063 "wildtypeAllele": "G", |
4588 "mismatch": false | 5064 "mismatch": false, |
5065 "warnings": [] | |
4589 }, | 5066 }, |
4590 { | 5067 { |
4591 "gene": "NUDT15", | 5068 "gene": "NUDT15", |
4592 "chromosome": "chr13", | 5069 "chromosome": "chr13", |
4593 "position": 48045690, | 5070 "position": 48045690, |
4596 "alleles": [ | 5073 "alleles": [ |
4597 "*20" | 5074 "*20" |
4598 ], | 5075 ], |
4599 "phased": true, | 5076 "phased": true, |
4600 "wildtypeAllele": "C", | 5077 "wildtypeAllele": "C", |
4601 "mismatch": false | 5078 "mismatch": false, |
5079 "warnings": [] | |
4602 }, | 5080 }, |
4603 { | 5081 { |
4604 "gene": "NUDT15", | 5082 "gene": "NUDT15", |
4605 "chromosome": "chr13", | 5083 "chromosome": "chr13", |
4606 "position": 48045719, | 5084 "position": 48045719, |
4610 "*2", | 5088 "*2", |
4611 "*3" | 5089 "*3" |
4612 ], | 5090 ], |
4613 "phased": true, | 5091 "phased": true, |
4614 "wildtypeAllele": "C", | 5092 "wildtypeAllele": "C", |
4615 "mismatch": false | 5093 "mismatch": false, |
5094 "warnings": [] | |
4616 }, | 5095 }, |
4617 { | 5096 { |
4618 "gene": "NUDT15", | 5097 "gene": "NUDT15", |
4619 "chromosome": "chr13", | 5098 "chromosome": "chr13", |
4620 "position": 48045720, | 5099 "position": 48045720, |
4623 "alleles": [ | 5102 "alleles": [ |
4624 "*4" | 5103 "*4" |
4625 ], | 5104 ], |
4626 "phased": true, | 5105 "phased": true, |
4627 "wildtypeAllele": "G", | 5106 "wildtypeAllele": "G", |
4628 "mismatch": false | 5107 "mismatch": false, |
5108 "warnings": [] | |
4629 }, | 5109 }, |
4630 { | 5110 { |
4631 "gene": "NUDT15", | 5111 "gene": "NUDT15", |
4632 "chromosome": "chr13", | 5112 "chromosome": "chr13", |
4633 "position": 48045771, | 5113 "position": 48045771, |
4636 "alleles": [ | 5116 "alleles": [ |
4637 "*15" | 5117 "*15" |
4638 ], | 5118 ], |
4639 "phased": true, | 5119 "phased": true, |
4640 "wildtypeAllele": "T", | 5120 "wildtypeAllele": "T", |
4641 "mismatch": false | 5121 "mismatch": false, |
5122 "warnings": [] | |
4642 } | 5123 } |
4643 ], | 5124 ], |
4644 "variantsOfInterest": [], | 5125 "variantsOfInterest": [], |
4645 "highlightedVariants": [] | 5126 "highlightedVariants": [] |
4646 }, | 5127 }, |
4665 "name": "Reference", | 5146 "name": "Reference", |
4666 "function": "Normal function", | 5147 "function": "Normal function", |
4667 "reference": true | 5148 "reference": true |
4668 }, | 5149 }, |
4669 "gene": "RYR1", | 5150 "gene": "RYR1", |
4670 "phenotype": "Uncertain Susceptibility", | 5151 "phenotypes": [ |
5152 "Uncertain Susceptibility" | |
5153 ], | |
4671 "variant": null, | 5154 "variant": null, |
4672 "lookupKey": "Uncertain Susceptibility", | 5155 "lookupKey": [ |
5156 "Uncertain Susceptibility" | |
5157 ], | |
4673 "label": "Reference/Reference" | 5158 "label": "Reference/Reference" |
4674 } | 5159 } |
4675 ], | 5160 ], |
4676 "diplotypes": [ | 5161 "diplotypes": [ |
4677 { | 5162 { |
4686 "name": "Reference", | 5171 "name": "Reference", |
4687 "function": "Normal function", | 5172 "function": "Normal function", |
4688 "reference": true | 5173 "reference": true |
4689 }, | 5174 }, |
4690 "gene": "RYR1", | 5175 "gene": "RYR1", |
4691 "phenotype": "Uncertain Susceptibility", | 5176 "phenotypes": [ |
5177 "Uncertain Susceptibility" | |
5178 ], | |
4692 "variant": null, | 5179 "variant": null, |
4693 "lookupKey": "Uncertain Susceptibility", | 5180 "lookupKey": [ |
5181 "Uncertain Susceptibility" | |
5182 ], | |
4694 "label": "Reference/Reference" | 5183 "label": "Reference/Reference" |
4695 } | 5184 } |
4696 ], | 5185 ], |
4697 "variants": [ | 5186 "variants": [ |
4698 { | 5187 { |
4704 "alleles": [ | 5193 "alleles": [ |
4705 "c.103T\u003eC" | 5194 "c.103T\u003eC" |
4706 ], | 5195 ], |
4707 "phased": true, | 5196 "phased": true, |
4708 "wildtypeAllele": "T", | 5197 "wildtypeAllele": "T", |
4709 "mismatch": false | 5198 "mismatch": false, |
5199 "warnings": [] | |
4710 }, | 5200 }, |
4711 { | 5201 { |
4712 "gene": "RYR1", | 5202 "gene": "RYR1", |
4713 "chromosome": "chr19", | 5203 "chromosome": "chr19", |
4714 "position": 38440829, | 5204 "position": 38440829, |
4717 "alleles": [ | 5207 "alleles": [ |
4718 "c.130C\u003eT" | 5208 "c.130C\u003eT" |
4719 ], | 5209 ], |
4720 "phased": true, | 5210 "phased": true, |
4721 "wildtypeAllele": "C", | 5211 "wildtypeAllele": "C", |
4722 "mismatch": false | 5212 "mismatch": false, |
5213 "warnings": [] | |
4723 }, | 5214 }, |
4724 { | 5215 { |
4725 "gene": "RYR1", | 5216 "gene": "RYR1", |
4726 "chromosome": "chr19", | 5217 "chromosome": "chr19", |
4727 "position": 38444211, | 5218 "position": 38444211, |
4730 "alleles": [ | 5221 "alleles": [ |
4731 "c.487C\u003eT" | 5222 "c.487C\u003eT" |
4732 ], | 5223 ], |
4733 "phased": true, | 5224 "phased": true, |
4734 "wildtypeAllele": "C", | 5225 "wildtypeAllele": "C", |
4735 "mismatch": false | 5226 "mismatch": false, |
5227 "warnings": [] | |
4736 }, | 5228 }, |
4737 { | 5229 { |
4738 "gene": "RYR1", | 5230 "gene": "RYR1", |
4739 "chromosome": "chr19", | 5231 "chromosome": "chr19", |
4740 "position": 38444212, | 5232 "position": 38444212, |
4743 "alleles": [ | 5235 "alleles": [ |
4744 "c.488G\u003eT" | 5236 "c.488G\u003eT" |
4745 ], | 5237 ], |
4746 "phased": true, | 5238 "phased": true, |
4747 "wildtypeAllele": "G", | 5239 "wildtypeAllele": "G", |
4748 "mismatch": false | 5240 "mismatch": false, |
5241 "warnings": [] | |
4749 }, | 5242 }, |
4750 { | 5243 { |
4751 "gene": "RYR1", | 5244 "gene": "RYR1", |
4752 "chromosome": "chr19", | 5245 "chromosome": "chr19", |
4753 "position": 38446710, | 5246 "position": 38446710, |
4757 "c.742G\u003eA", | 5250 "c.742G\u003eA", |
4758 "c.742G\u003eC" | 5251 "c.742G\u003eC" |
4759 ], | 5252 ], |
4760 "phased": true, | 5253 "phased": true, |
4761 "wildtypeAllele": "G", | 5254 "wildtypeAllele": "G", |
4762 "mismatch": false | 5255 "mismatch": false, |
5256 "warnings": [] | |
4763 }, | 5257 }, |
4764 { | 5258 { |
4765 "gene": "RYR1", | 5259 "gene": "RYR1", |
4766 "chromosome": "chr19", | 5260 "chromosome": "chr19", |
4767 "position": 38448673, | 5261 "position": 38448673, |
4770 "alleles": [ | 5264 "alleles": [ |
4771 "c.982C\u003eT" | 5265 "c.982C\u003eT" |
4772 ], | 5266 ], |
4773 "phased": true, | 5267 "phased": true, |
4774 "wildtypeAllele": "C", | 5268 "wildtypeAllele": "C", |
4775 "mismatch": false | 5269 "mismatch": false, |
5270 "warnings": [] | |
4776 }, | 5271 }, |
4777 { | 5272 { |
4778 "gene": "RYR1", | 5273 "gene": "RYR1", |
4779 "chromosome": "chr19", | 5274 "chromosome": "chr19", |
4780 "position": 38448712, | 5275 "position": 38448712, |
4784 "c.1021G\u003eA", | 5279 "c.1021G\u003eA", |
4785 "c.1021G\u003eC" | 5280 "c.1021G\u003eC" |
4786 ], | 5281 ], |
4787 "phased": true, | 5282 "phased": true, |
4788 "wildtypeAllele": "G", | 5283 "wildtypeAllele": "G", |
4789 "mismatch": false | 5284 "mismatch": false, |
5285 "warnings": [] | |
4790 }, | 5286 }, |
4791 { | 5287 { |
4792 "gene": "RYR1", | 5288 "gene": "RYR1", |
4793 "chromosome": "chr19", | 5289 "chromosome": "chr19", |
4794 "position": 38451842, | 5290 "position": 38451842, |
4797 "alleles": [ | 5293 "alleles": [ |
4798 "c.1201C\u003eT" | 5294 "c.1201C\u003eT" |
4799 ], | 5295 ], |
4800 "phased": true, | 5296 "phased": true, |
4801 "wildtypeAllele": "C", | 5297 "wildtypeAllele": "C", |
4802 "mismatch": false | 5298 "mismatch": false, |
5299 "warnings": [] | |
4803 }, | 5300 }, |
4804 { | 5301 { |
4805 "gene": "RYR1", | 5302 "gene": "RYR1", |
4806 "chromosome": "chr19", | 5303 "chromosome": "chr19", |
4807 "position": 38451850, | 5304 "position": 38451850, |
4810 "alleles": [ | 5307 "alleles": [ |
4811 "c.1209C\u003eG" | 5308 "c.1209C\u003eG" |
4812 ], | 5309 ], |
4813 "phased": true, | 5310 "phased": true, |
4814 "wildtypeAllele": "C", | 5311 "wildtypeAllele": "C", |
4815 "mismatch": false | 5312 "mismatch": false, |
5313 "warnings": [] | |
4816 }, | 5314 }, |
4817 { | 5315 { |
4818 "gene": "RYR1", | 5316 "gene": "RYR1", |
4819 "chromosome": "chr19", | 5317 "chromosome": "chr19", |
4820 "position": 38455359, | 5318 "position": 38455359, |
4823 "alleles": [ | 5321 "alleles": [ |
4824 "c.1565A\u003eC" | 5322 "c.1565A\u003eC" |
4825 ], | 5323 ], |
4826 "phased": true, | 5324 "phased": true, |
4827 "wildtypeAllele": "A", | 5325 "wildtypeAllele": "A", |
4828 "mismatch": false | 5326 "mismatch": false, |
5327 "warnings": [] | |
4829 }, | 5328 }, |
4830 { | 5329 { |
4831 "gene": "RYR1", | 5330 "gene": "RYR1", |
4832 "chromosome": "chr19", | 5331 "chromosome": "chr19", |
4833 "position": 38455463, | 5332 "position": 38455463, |
4836 "alleles": [ | 5335 "alleles": [ |
4837 "c.1589G\u003eA" | 5336 "c.1589G\u003eA" |
4838 ], | 5337 ], |
4839 "phased": true, | 5338 "phased": true, |
4840 "wildtypeAllele": "G", | 5339 "wildtypeAllele": "G", |
4841 "mismatch": false | 5340 "mismatch": false, |
5341 "warnings": [] | |
4842 }, | 5342 }, |
4843 { | 5343 { |
4844 "gene": "RYR1", | 5344 "gene": "RYR1", |
4845 "chromosome": "chr19", | 5345 "chromosome": "chr19", |
4846 "position": 38455471, | 5346 "position": 38455471, |
4849 "alleles": [ | 5349 "alleles": [ |
4850 "c.1597C\u003eT" | 5350 "c.1597C\u003eT" |
4851 ], | 5351 ], |
4852 "phased": true, | 5352 "phased": true, |
4853 "wildtypeAllele": "C", | 5353 "wildtypeAllele": "C", |
4854 "mismatch": false | 5354 "mismatch": false, |
5355 "warnings": [] | |
4855 }, | 5356 }, |
4856 { | 5357 { |
4857 "gene": "RYR1", | 5358 "gene": "RYR1", |
4858 "chromosome": "chr19", | 5359 "chromosome": "chr19", |
4859 "position": 38455472, | 5360 "position": 38455472, |
4862 "alleles": [ | 5363 "alleles": [ |
4863 "c.1598G\u003eA" | 5364 "c.1598G\u003eA" |
4864 ], | 5365 ], |
4865 "phased": true, | 5366 "phased": true, |
4866 "wildtypeAllele": "G", | 5367 "wildtypeAllele": "G", |
4867 "mismatch": false | 5368 "mismatch": false, |
5369 "warnings": [] | |
4868 }, | 5370 }, |
4869 { | 5371 { |
4870 "gene": "RYR1", | 5372 "gene": "RYR1", |
4871 "chromosome": "chr19", | 5373 "chromosome": "chr19", |
4872 "position": 38455528, | 5374 "position": 38455528, |
4875 "alleles": [ | 5377 "alleles": [ |
4876 "c.1654C\u003eT" | 5378 "c.1654C\u003eT" |
4877 ], | 5379 ], |
4878 "phased": true, | 5380 "phased": true, |
4879 "wildtypeAllele": "C", | 5381 "wildtypeAllele": "C", |
4880 "mismatch": false | 5382 "mismatch": false, |
5383 "warnings": [] | |
4881 }, | 5384 }, |
4882 { | 5385 { |
4883 "gene": "RYR1", | 5386 "gene": "RYR1", |
4884 "chromosome": "chr19", | 5387 "chromosome": "chr19", |
4885 "position": 38457545, | 5388 "position": 38457545, |
4888 "alleles": [ | 5391 "alleles": [ |
4889 "c.1840C\u003eT" | 5392 "c.1840C\u003eT" |
4890 ], | 5393 ], |
4891 "phased": true, | 5394 "phased": true, |
4892 "wildtypeAllele": "C", | 5395 "wildtypeAllele": "C", |
4893 "mismatch": false | 5396 "mismatch": false, |
5397 "warnings": [] | |
4894 }, | 5398 }, |
4895 { | 5399 { |
4896 "gene": "RYR1", | 5400 "gene": "RYR1", |
4897 "chromosome": "chr19", | 5401 "chromosome": "chr19", |
4898 "position": 38457546, | 5402 "position": 38457546, |
4901 "alleles": [ | 5405 "alleles": [ |
4902 "c.1841G\u003eT" | 5406 "c.1841G\u003eT" |
4903 ], | 5407 ], |
4904 "phased": true, | 5408 "phased": true, |
4905 "wildtypeAllele": "G", | 5409 "wildtypeAllele": "G", |
4906 "mismatch": false | 5410 "mismatch": false, |
5411 "warnings": [] | |
4907 }, | 5412 }, |
4908 { | 5413 { |
4909 "gene": "RYR1", | 5414 "gene": "RYR1", |
4910 "chromosome": "chr19", | 5415 "chromosome": "chr19", |
4911 "position": 38494564, | 5416 "position": 38494564, |
4914 "alleles": [ | 5419 "alleles": [ |
4915 "c.6487C\u003eT" | 5420 "c.6487C\u003eT" |
4916 ], | 5421 ], |
4917 "phased": true, | 5422 "phased": true, |
4918 "wildtypeAllele": "C", | 5423 "wildtypeAllele": "C", |
4919 "mismatch": false | 5424 "mismatch": false, |
5425 "warnings": [] | |
4920 }, | 5426 }, |
4921 { | 5427 { |
4922 "gene": "RYR1", | 5428 "gene": "RYR1", |
4923 "chromosome": "chr19", | 5429 "chromosome": "chr19", |
4924 "position": 38494565, | 5430 "position": 38494565, |
4927 "alleles": [ | 5433 "alleles": [ |
4928 "c.6488G\u003eA" | 5434 "c.6488G\u003eA" |
4929 ], | 5435 ], |
4930 "phased": true, | 5436 "phased": true, |
4931 "wildtypeAllele": "G", | 5437 "wildtypeAllele": "G", |
4932 "mismatch": false | 5438 "mismatch": false, |
5439 "warnings": [] | |
4933 }, | 5440 }, |
4934 { | 5441 { |
4935 "gene": "RYR1", | 5442 "gene": "RYR1", |
4936 "chromosome": "chr19", | 5443 "chromosome": "chr19", |
4937 "position": 38494579, | 5444 "position": 38494579, |
4940 "alleles": [ | 5447 "alleles": [ |
4941 "c.6502G\u003eA" | 5448 "c.6502G\u003eA" |
4942 ], | 5449 ], |
4943 "phased": true, | 5450 "phased": true, |
4944 "wildtypeAllele": "G", | 5451 "wildtypeAllele": "G", |
4945 "mismatch": false | 5452 "mismatch": false, |
5453 "warnings": [] | |
4946 }, | 5454 }, |
4947 { | 5455 { |
4948 "gene": "RYR1", | 5456 "gene": "RYR1", |
4949 "chromosome": "chr19", | 5457 "chromosome": "chr19", |
4950 "position": 38496283, | 5458 "position": 38496283, |
4954 "c.6617C\u003eG", | 5462 "c.6617C\u003eG", |
4955 "c.6617C\u003eT" | 5463 "c.6617C\u003eT" |
4956 ], | 5464 ], |
4957 "phased": true, | 5465 "phased": true, |
4958 "wildtypeAllele": "C", | 5466 "wildtypeAllele": "C", |
4959 "mismatch": false | 5467 "mismatch": false, |
5468 "warnings": [] | |
4960 }, | 5469 }, |
4961 { | 5470 { |
4962 "gene": "RYR1", | 5471 "gene": "RYR1", |
4963 "chromosome": "chr19", | 5472 "chromosome": "chr19", |
4964 "position": 38499223, | 5473 "position": 38499223, |
4967 "alleles": [ | 5476 "alleles": [ |
4968 "c.7007G\u003eA" | 5477 "c.7007G\u003eA" |
4969 ], | 5478 ], |
4970 "phased": true, | 5479 "phased": true, |
4971 "wildtypeAllele": "G", | 5480 "wildtypeAllele": "G", |
4972 "mismatch": false | 5481 "mismatch": false, |
5482 "warnings": [] | |
4973 }, | 5483 }, |
4974 { | 5484 { |
4975 "gene": "RYR1", | 5485 "gene": "RYR1", |
4976 "chromosome": "chr19", | 5486 "chromosome": "chr19", |
4977 "position": 38499644, | 5487 "position": 38499644, |
4980 "alleles": [ | 5490 "alleles": [ |
4981 "c.7042_7044delGAG" | 5491 "c.7042_7044delGAG" |
4982 ], | 5492 ], |
4983 "phased": true, | 5493 "phased": true, |
4984 "wildtypeAllele": "TGGA", | 5494 "wildtypeAllele": "TGGA", |
4985 "mismatch": false | 5495 "mismatch": false, |
5496 "warnings": [] | |
4986 }, | 5497 }, |
4987 { | 5498 { |
4988 "gene": "RYR1", | 5499 "gene": "RYR1", |
4989 "chromosome": "chr19", | 5500 "chromosome": "chr19", |
4990 "position": 38499655, | 5501 "position": 38499655, |
4993 "alleles": [ | 5504 "alleles": [ |
4994 "c.7048G\u003eA" | 5505 "c.7048G\u003eA" |
4995 ], | 5506 ], |
4996 "phased": true, | 5507 "phased": true, |
4997 "wildtypeAllele": "G", | 5508 "wildtypeAllele": "G", |
4998 "mismatch": false | 5509 "mismatch": false, |
5510 "warnings": [] | |
4999 }, | 5511 }, |
5000 { | 5512 { |
5001 "gene": "RYR1", | 5513 "gene": "RYR1", |
5002 "chromosome": "chr19", | 5514 "chromosome": "chr19", |
5003 "position": 38499670, | 5515 "position": 38499670, |
5006 "alleles": [ | 5518 "alleles": [ |
5007 "c.7063C\u003eT" | 5519 "c.7063C\u003eT" |
5008 ], | 5520 ], |
5009 "phased": true, | 5521 "phased": true, |
5010 "wildtypeAllele": "C", | 5522 "wildtypeAllele": "C", |
5011 "mismatch": false | 5523 "mismatch": false, |
5524 "warnings": [] | |
5012 }, | 5525 }, |
5013 { | 5526 { |
5014 "gene": "RYR1", | 5527 "gene": "RYR1", |
5015 "chromosome": "chr19", | 5528 "chromosome": "chr19", |
5016 "position": 38499731, | 5529 "position": 38499731, |
5019 "alleles": [ | 5532 "alleles": [ |
5020 "c.7124G\u003eC" | 5533 "c.7124G\u003eC" |
5021 ], | 5534 ], |
5022 "phased": true, | 5535 "phased": true, |
5023 "wildtypeAllele": "G", | 5536 "wildtypeAllele": "G", |
5024 "mismatch": false | 5537 "mismatch": false, |
5538 "warnings": [] | |
5025 }, | 5539 }, |
5026 { | 5540 { |
5027 "gene": "RYR1", | 5541 "gene": "RYR1", |
5028 "chromosome": "chr19", | 5542 "chromosome": "chr19", |
5029 "position": 38499975, | 5543 "position": 38499975, |
5032 "alleles": [ | 5546 "alleles": [ |
5033 "c.7282G\u003eA" | 5547 "c.7282G\u003eA" |
5034 ], | 5548 ], |
5035 "phased": true, | 5549 "phased": true, |
5036 "wildtypeAllele": "G", | 5550 "wildtypeAllele": "G", |
5037 "mismatch": false | 5551 "mismatch": false, |
5552 "warnings": [] | |
5038 }, | 5553 }, |
5039 { | 5554 { |
5040 "gene": "RYR1", | 5555 "gene": "RYR1", |
5041 "chromosome": "chr19", | 5556 "chromosome": "chr19", |
5042 "position": 38499993, | 5557 "position": 38499993, |
5045 "alleles": [ | 5560 "alleles": [ |
5046 "c.7300G\u003eA" | 5561 "c.7300G\u003eA" |
5047 ], | 5562 ], |
5048 "phased": true, | 5563 "phased": true, |
5049 "wildtypeAllele": "G", | 5564 "wildtypeAllele": "G", |
5050 "mismatch": false | 5565 "mismatch": false, |
5566 "warnings": [] | |
5051 }, | 5567 }, |
5052 { | 5568 { |
5053 "gene": "RYR1", | 5569 "gene": "RYR1", |
5054 "chromosome": "chr19", | 5570 "chromosome": "chr19", |
5055 "position": 38499997, | 5571 "position": 38499997, |
5058 "alleles": [ | 5574 "alleles": [ |
5059 "c.7304G\u003eA" | 5575 "c.7304G\u003eA" |
5060 ], | 5576 ], |
5061 "phased": true, | 5577 "phased": true, |
5062 "wildtypeAllele": "G", | 5578 "wildtypeAllele": "G", |
5063 "mismatch": false | 5579 "mismatch": false, |
5580 "warnings": [] | |
5064 }, | 5581 }, |
5065 { | 5582 { |
5066 "gene": "RYR1", | 5583 "gene": "RYR1", |
5067 "chromosome": "chr19", | 5584 "chromosome": "chr19", |
5068 "position": 38500636, | 5585 "position": 38500636, |
5071 "alleles": [ | 5588 "alleles": [ |
5072 "c.7354C\u003eT" | 5589 "c.7354C\u003eT" |
5073 ], | 5590 ], |
5074 "phased": true, | 5591 "phased": true, |
5075 "wildtypeAllele": "C", | 5592 "wildtypeAllele": "C", |
5076 "mismatch": false | 5593 "mismatch": false, |
5594 "warnings": [] | |
5077 }, | 5595 }, |
5078 { | 5596 { |
5079 "gene": "RYR1", | 5597 "gene": "RYR1", |
5080 "chromosome": "chr19", | 5598 "chromosome": "chr19", |
5081 "position": 38500642, | 5599 "position": 38500642, |
5084 "alleles": [ | 5602 "alleles": [ |
5085 "c.7360C\u003eT" | 5603 "c.7360C\u003eT" |
5086 ], | 5604 ], |
5087 "phased": true, | 5605 "phased": true, |
5088 "wildtypeAllele": "C", | 5606 "wildtypeAllele": "C", |
5089 "mismatch": false | 5607 "mismatch": false, |
5608 "warnings": [] | |
5090 }, | 5609 }, |
5091 { | 5610 { |
5092 "gene": "RYR1", | 5611 "gene": "RYR1", |
5093 "chromosome": "chr19", | 5612 "chromosome": "chr19", |
5094 "position": 38500643, | 5613 "position": 38500643, |
5097 "alleles": [ | 5616 "alleles": [ |
5098 "c.7361G\u003eA" | 5617 "c.7361G\u003eA" |
5099 ], | 5618 ], |
5100 "phased": true, | 5619 "phased": true, |
5101 "wildtypeAllele": "G", | 5620 "wildtypeAllele": "G", |
5102 "mismatch": false | 5621 "mismatch": false, |
5622 "warnings": [] | |
5103 }, | 5623 }, |
5104 { | 5624 { |
5105 "gene": "RYR1", | 5625 "gene": "RYR1", |
5106 "chromosome": "chr19", | 5626 "chromosome": "chr19", |
5107 "position": 38500654, | 5627 "position": 38500654, |
5110 "alleles": [ | 5630 "alleles": [ |
5111 "c.7372C\u003eT" | 5631 "c.7372C\u003eT" |
5112 ], | 5632 ], |
5113 "phased": true, | 5633 "phased": true, |
5114 "wildtypeAllele": "C", | 5634 "wildtypeAllele": "C", |
5115 "mismatch": false | 5635 "mismatch": false, |
5636 "warnings": [] | |
5116 }, | 5637 }, |
5117 { | 5638 { |
5118 "gene": "RYR1", | 5639 "gene": "RYR1", |
5119 "chromosome": "chr19", | 5640 "chromosome": "chr19", |
5120 "position": 38500655, | 5641 "position": 38500655, |
5123 "alleles": [ | 5644 "alleles": [ |
5124 "c.7373G\u003eA" | 5645 "c.7373G\u003eA" |
5125 ], | 5646 ], |
5126 "phased": true, | 5647 "phased": true, |
5127 "wildtypeAllele": "G", | 5648 "wildtypeAllele": "G", |
5128 "mismatch": false | 5649 "mismatch": false, |
5650 "warnings": [] | |
5129 }, | 5651 }, |
5130 { | 5652 { |
5131 "gene": "RYR1", | 5653 "gene": "RYR1", |
5132 "chromosome": "chr19", | 5654 "chromosome": "chr19", |
5133 "position": 38500898, | 5655 "position": 38500898, |
5137 "c.7522C\u003eG", | 5659 "c.7522C\u003eG", |
5138 "c.7522C\u003eT" | 5660 "c.7522C\u003eT" |
5139 ], | 5661 ], |
5140 "phased": true, | 5662 "phased": true, |
5141 "wildtypeAllele": "C", | 5663 "wildtypeAllele": "C", |
5142 "mismatch": false | 5664 "mismatch": false, |
5665 "warnings": [] | |
5143 }, | 5666 }, |
5144 { | 5667 { |
5145 "gene": "RYR1", | 5668 "gene": "RYR1", |
5146 "chromosome": "chr19", | 5669 "chromosome": "chr19", |
5147 "position": 38500899, | 5670 "position": 38500899, |
5150 "alleles": [ | 5673 "alleles": [ |
5151 "c.7523G\u003eA" | 5674 "c.7523G\u003eA" |
5152 ], | 5675 ], |
5153 "phased": true, | 5676 "phased": true, |
5154 "wildtypeAllele": "G", | 5677 "wildtypeAllele": "G", |
5155 "mismatch": false | 5678 "mismatch": false, |
5679 "warnings": [] | |
5156 }, | 5680 }, |
5157 { | 5681 { |
5158 "gene": "RYR1", | 5682 "gene": "RYR1", |
5159 "chromosome": "chr19", | 5683 "chromosome": "chr19", |
5160 "position": 38512321, | 5684 "position": 38512321, |
5163 "alleles": [ | 5687 "alleles": [ |
5164 "c.9310G\u003eA" | 5688 "c.9310G\u003eA" |
5165 ], | 5689 ], |
5166 "phased": true, | 5690 "phased": true, |
5167 "wildtypeAllele": "G", | 5691 "wildtypeAllele": "G", |
5168 "mismatch": false | 5692 "mismatch": false, |
5693 "warnings": [] | |
5169 }, | 5694 }, |
5170 { | 5695 { |
5171 "gene": "RYR1", | 5696 "gene": "RYR1", |
5172 "chromosome": "chr19", | 5697 "chromosome": "chr19", |
5173 "position": 38543832, | 5698 "position": 38543832, |
5176 "alleles": [ | 5701 "alleles": [ |
5177 "c.11969G\u003eT" | 5702 "c.11969G\u003eT" |
5178 ], | 5703 ], |
5179 "phased": true, | 5704 "phased": true, |
5180 "wildtypeAllele": "G", | 5705 "wildtypeAllele": "G", |
5181 "mismatch": false | 5706 "mismatch": false, |
5707 "warnings": [] | |
5182 }, | 5708 }, |
5183 { | 5709 { |
5184 "gene": "RYR1", | 5710 "gene": "RYR1", |
5185 "chromosome": "chr19", | 5711 "chromosome": "chr19", |
5186 "position": 38580004, | 5712 "position": 38580004, |
5189 "alleles": [ | 5715 "alleles": [ |
5190 "c.14387A\u003eG" | 5716 "c.14387A\u003eG" |
5191 ], | 5717 ], |
5192 "phased": true, | 5718 "phased": true, |
5193 "wildtypeAllele": "A", | 5719 "wildtypeAllele": "A", |
5194 "mismatch": false | 5720 "mismatch": false, |
5721 "warnings": [] | |
5195 }, | 5722 }, |
5196 { | 5723 { |
5197 "gene": "RYR1", | 5724 "gene": "RYR1", |
5198 "chromosome": "chr19", | 5725 "chromosome": "chr19", |
5199 "position": 38580094, | 5726 "position": 38580094, |
5202 "alleles": [ | 5729 "alleles": [ |
5203 "c.14477C\u003eT" | 5730 "c.14477C\u003eT" |
5204 ], | 5731 ], |
5205 "phased": true, | 5732 "phased": true, |
5206 "wildtypeAllele": "C", | 5733 "wildtypeAllele": "C", |
5207 "mismatch": false | 5734 "mismatch": false, |
5735 "warnings": [] | |
5208 }, | 5736 }, |
5209 { | 5737 { |
5210 "gene": "RYR1", | 5738 "gene": "RYR1", |
5211 "chromosome": "chr19", | 5739 "chromosome": "chr19", |
5212 "position": 38580114, | 5740 "position": 38580114, |
5215 "alleles": [ | 5743 "alleles": [ |
5216 "c.14497C\u003eT" | 5744 "c.14497C\u003eT" |
5217 ], | 5745 ], |
5218 "phased": true, | 5746 "phased": true, |
5219 "wildtypeAllele": "C", | 5747 "wildtypeAllele": "C", |
5220 "mismatch": false | 5748 "mismatch": false, |
5749 "warnings": [] | |
5221 }, | 5750 }, |
5222 { | 5751 { |
5223 "gene": "RYR1", | 5752 "gene": "RYR1", |
5224 "chromosome": "chr19", | 5753 "chromosome": "chr19", |
5225 "position": 38580370, | 5754 "position": 38580370, |
5228 "alleles": [ | 5757 "alleles": [ |
5229 "c.14512C\u003eG" | 5758 "c.14512C\u003eG" |
5230 ], | 5759 ], |
5231 "phased": true, | 5760 "phased": true, |
5232 "wildtypeAllele": "C", | 5761 "wildtypeAllele": "C", |
5233 "mismatch": false | 5762 "mismatch": false, |
5763 "warnings": [] | |
5234 }, | 5764 }, |
5235 { | 5765 { |
5236 "gene": "RYR1", | 5766 "gene": "RYR1", |
5237 "chromosome": "chr19", | 5767 "chromosome": "chr19", |
5238 "position": 38580403, | 5768 "position": 38580403, |
5241 "alleles": [ | 5771 "alleles": [ |
5242 "c.14545G\u003eA" | 5772 "c.14545G\u003eA" |
5243 ], | 5773 ], |
5244 "phased": true, | 5774 "phased": true, |
5245 "wildtypeAllele": "G", | 5775 "wildtypeAllele": "G", |
5246 "mismatch": false | 5776 "mismatch": false, |
5777 "warnings": [] | |
5247 }, | 5778 }, |
5248 { | 5779 { |
5249 "gene": "RYR1", | 5780 "gene": "RYR1", |
5250 "chromosome": "chr19", | 5781 "chromosome": "chr19", |
5251 "position": 38580440, | 5782 "position": 38580440, |
5254 "alleles": [ | 5785 "alleles": [ |
5255 "c.14582G\u003eA" | 5786 "c.14582G\u003eA" |
5256 ], | 5787 ], |
5257 "phased": true, | 5788 "phased": true, |
5258 "wildtypeAllele": "G", | 5789 "wildtypeAllele": "G", |
5259 "mismatch": false | 5790 "mismatch": false, |
5791 "warnings": [] | |
5260 }, | 5792 }, |
5261 { | 5793 { |
5262 "gene": "RYR1", | 5794 "gene": "RYR1", |
5263 "chromosome": "chr19", | 5795 "chromosome": "chr19", |
5264 "position": 38584989, | 5796 "position": 38584989, |
5267 "alleles": [ | 5799 "alleles": [ |
5268 "c.14693T\u003eC" | 5800 "c.14693T\u003eC" |
5269 ], | 5801 ], |
5270 "phased": true, | 5802 "phased": true, |
5271 "wildtypeAllele": "T", | 5803 "wildtypeAllele": "T", |
5272 "mismatch": false | 5804 "mismatch": false, |
5805 "warnings": [] | |
5273 } | 5806 } |
5274 ], | 5807 ], |
5275 "variantsOfInterest": [], | 5808 "variantsOfInterest": [], |
5276 "highlightedVariants": [] | 5809 "highlightedVariants": [] |
5277 }, | 5810 }, |
5300 "name": "*1", | 5833 "name": "*1", |
5301 "function": "Normal function", | 5834 "function": "Normal function", |
5302 "reference": true | 5835 "reference": true |
5303 }, | 5836 }, |
5304 "gene": "SLCO1B1", | 5837 "gene": "SLCO1B1", |
5305 "phenotype": "Normal function", | 5838 "phenotypes": [ |
5839 "Normal Function" | |
5840 ], | |
5306 "variant": null, | 5841 "variant": null, |
5307 "lookupKey": "Normal function", | 5842 "lookupKey": [ |
5843 "Normal Function" | |
5844 ], | |
5308 "label": "*1/*1" | 5845 "label": "*1/*1" |
5309 } | 5846 } |
5310 ], | 5847 ], |
5311 "diplotypes": [ | 5848 "diplotypes": [ |
5312 { | 5849 { |
5321 "name": "*1", | 5858 "name": "*1", |
5322 "function": "Normal function", | 5859 "function": "Normal function", |
5323 "reference": true | 5860 "reference": true |
5324 }, | 5861 }, |
5325 "gene": "SLCO1B1", | 5862 "gene": "SLCO1B1", |
5326 "phenotype": "Normal function", | 5863 "phenotypes": [ |
5864 "Normal Function" | |
5865 ], | |
5327 "variant": null, | 5866 "variant": null, |
5328 "lookupKey": "Normal function", | 5867 "lookupKey": [ |
5868 "Normal Function" | |
5869 ], | |
5329 "label": "*1/*1" | 5870 "label": "*1/*1" |
5330 } | 5871 } |
5331 ], | 5872 ], |
5332 "variants": [ | 5873 "variants": [ |
5333 { | 5874 { |
5339 "alleles": [ | 5880 "alleles": [ |
5340 "*33" | 5881 "*33" |
5341 ], | 5882 ], |
5342 "phased": true, | 5883 "phased": true, |
5343 "wildtypeAllele": "C", | 5884 "wildtypeAllele": "C", |
5344 "mismatch": false | 5885 "mismatch": false, |
5886 "warnings": [] | |
5345 }, | 5887 }, |
5346 { | 5888 { |
5347 "gene": "SLCO1B1", | 5889 "gene": "SLCO1B1", |
5348 "chromosome": "chr12", | 5890 "chromosome": "chr12", |
5349 "position": 21172776, | 5891 "position": 21172776, |
5352 "alleles": [ | 5894 "alleles": [ |
5353 "*23" | 5895 "*23" |
5354 ], | 5896 ], |
5355 "phased": true, | 5897 "phased": true, |
5356 "wildtypeAllele": "G", | 5898 "wildtypeAllele": "G", |
5357 "mismatch": false | 5899 "mismatch": false, |
5900 "warnings": [] | |
5358 }, | 5901 }, |
5359 { | 5902 { |
5360 "gene": "SLCO1B1", | 5903 "gene": "SLCO1B1", |
5361 "chromosome": "chr12", | 5904 "chromosome": "chr12", |
5362 "position": 21172782, | 5905 "position": 21172782, |
5366 "*2", | 5909 "*2", |
5367 "*12" | 5910 "*12" |
5368 ], | 5911 ], |
5369 "phased": true, | 5912 "phased": true, |
5370 "wildtypeAllele": "T", | 5913 "wildtypeAllele": "T", |
5371 "mismatch": false | 5914 "mismatch": false, |
5915 "warnings": [] | |
5372 }, | 5916 }, |
5373 { | 5917 { |
5374 "gene": "SLCO1B1", | 5918 "gene": "SLCO1B1", |
5375 "chromosome": "chr12", | 5919 "chromosome": "chr12", |
5376 "position": 21174595, | 5920 "position": 21174595, |
5380 "*3", | 5924 "*3", |
5381 "*13" | 5925 "*13" |
5382 ], | 5926 ], |
5383 "phased": true, | 5927 "phased": true, |
5384 "wildtypeAllele": "T", | 5928 "wildtypeAllele": "T", |
5385 "mismatch": false | 5929 "mismatch": false, |
5930 "warnings": [] | |
5386 }, | 5931 }, |
5387 { | 5932 { |
5388 "gene": "SLCO1B1", | 5933 "gene": "SLCO1B1", |
5389 "chromosome": "chr12", | 5934 "chromosome": "chr12", |
5390 "position": 21176804, | 5935 "position": 21176804, |
5411 "*46", | 5956 "*46", |
5412 "*47" | 5957 "*47" |
5413 ], | 5958 ], |
5414 "phased": true, | 5959 "phased": true, |
5415 "wildtypeAllele": "A", | 5960 "wildtypeAllele": "A", |
5416 "mismatch": false | 5961 "mismatch": false, |
5962 "warnings": [] | |
5417 }, | 5963 }, |
5418 { | 5964 { |
5419 "gene": "SLCO1B1", | 5965 "gene": "SLCO1B1", |
5420 "chromosome": "chr12", | 5966 "chromosome": "chr12", |
5421 "position": 21176868, | 5967 "position": 21176868, |
5424 "alleles": [ | 5970 "alleles": [ |
5425 "*16" | 5971 "*16" |
5426 ], | 5972 ], |
5427 "phased": true, | 5973 "phased": true, |
5428 "wildtypeAllele": "A", | 5974 "wildtypeAllele": "A", |
5429 "mismatch": false | 5975 "mismatch": false, |
5976 "warnings": [] | |
5430 }, | 5977 }, |
5431 { | 5978 { |
5432 "gene": "SLCO1B1", | 5979 "gene": "SLCO1B1", |
5433 "chromosome": "chr12", | 5980 "chromosome": "chr12", |
5434 "position": 21176879, | 5981 "position": 21176879, |
5441 "*32", | 5988 "*32", |
5442 "*43" | 5989 "*43" |
5443 ], | 5990 ], |
5444 "phased": true, | 5991 "phased": true, |
5445 "wildtypeAllele": "C", | 5992 "wildtypeAllele": "C", |
5446 "mismatch": false | 5993 "mismatch": false, |
5994 "warnings": [] | |
5447 }, | 5995 }, |
5448 { | 5996 { |
5449 "gene": "SLCO1B1", | 5997 "gene": "SLCO1B1", |
5450 "chromosome": "chr12", | 5998 "chromosome": "chr12", |
5451 "position": 21176883, | 5999 "position": 21176883, |
5455 "*3", | 6003 "*3", |
5456 "*13" | 6004 "*13" |
5457 ], | 6005 ], |
5458 "phased": true, | 6006 "phased": true, |
5459 "wildtypeAllele": "A", | 6007 "wildtypeAllele": "A", |
5460 "mismatch": false | 6008 "mismatch": false, |
6009 "warnings": [] | |
5461 }, | 6010 }, |
5462 { | 6011 { |
5463 "gene": "SLCO1B1", | 6012 "gene": "SLCO1B1", |
5464 "chromosome": "chr12", | 6013 "chromosome": "chr12", |
5465 "position": 21178615, | 6014 "position": 21178615, |
5472 "*46", | 6021 "*46", |
5473 "*47" | 6022 "*47" |
5474 ], | 6023 ], |
5475 "phased": true, | 6024 "phased": true, |
5476 "wildtypeAllele": "T", | 6025 "wildtypeAllele": "T", |
5477 "mismatch": false | 6026 "mismatch": false, |
6027 "warnings": [] | |
5478 }, | 6028 }, |
5479 { | 6029 { |
5480 "gene": "SLCO1B1", | 6030 "gene": "SLCO1B1", |
5481 "chromosome": "chr12", | 6031 "chromosome": "chr12", |
5482 "position": 21178957, | 6032 "position": 21178957, |
5485 "alleles": [ | 6035 "alleles": [ |
5486 "*30" | 6036 "*30" |
5487 ], | 6037 ], |
5488 "phased": true, | 6038 "phased": true, |
5489 "wildtypeAllele": "A", | 6039 "wildtypeAllele": "A", |
5490 "mismatch": false | 6040 "mismatch": false, |
6041 "warnings": [] | |
5491 }, | 6042 }, |
5492 { | 6043 { |
5493 "gene": "SLCO1B1", | 6044 "gene": "SLCO1B1", |
5494 "chromosome": "chr12", | 6045 "chromosome": "chr12", |
5495 "position": 21196951, | 6046 "position": 21196951, |
5504 "*43", | 6055 "*43", |
5505 "*44" | 6056 "*44" |
5506 ], | 6057 ], |
5507 "phased": true, | 6058 "phased": true, |
5508 "wildtypeAllele": "A", | 6059 "wildtypeAllele": "A", |
5509 "mismatch": false | 6060 "mismatch": false, |
6061 "warnings": [] | |
5510 }, | 6062 }, |
5511 { | 6063 { |
5512 "gene": "SLCO1B1", | 6064 "gene": "SLCO1B1", |
5513 "chromosome": "chr12", | 6065 "chromosome": "chr12", |
5514 "position": 21196976, | 6066 "position": 21196976, |
5519 "*28", | 6071 "*28", |
5520 "*33" | 6072 "*33" |
5521 ], | 6073 ], |
5522 "phased": true, | 6074 "phased": true, |
5523 "wildtypeAllele": "G", | 6075 "wildtypeAllele": "G", |
5524 "mismatch": false | 6076 "mismatch": false, |
6077 "warnings": [] | |
5525 }, | 6078 }, |
5526 { | 6079 { |
5527 "gene": "SLCO1B1", | 6080 "gene": "SLCO1B1", |
5528 "chromosome": "chr12", | 6081 "chromosome": "chr12", |
5529 "position": 21200595, | 6082 "position": 21200595, |
5532 "alleles": [ | 6085 "alleles": [ |
5533 "*6" | 6086 "*6" |
5534 ], | 6087 ], |
5535 "phased": true, | 6088 "phased": true, |
5536 "wildtypeAllele": "T", | 6089 "wildtypeAllele": "T", |
5537 "mismatch": false | 6090 "mismatch": false, |
6091 "warnings": [] | |
5538 }, | 6092 }, |
5539 { | 6093 { |
5540 "gene": "SLCO1B1", | 6094 "gene": "SLCO1B1", |
5541 "chromosome": "chr12", | 6095 "chromosome": "chr12", |
5542 "position": 21202553, | 6096 "position": 21202553, |
5545 "alleles": [ | 6099 "alleles": [ |
5546 "*36" | 6100 "*36" |
5547 ], | 6101 ], |
5548 "phased": true, | 6102 "phased": true, |
5549 "wildtypeAllele": "T", | 6103 "wildtypeAllele": "T", |
5550 "mismatch": false | 6104 "mismatch": false, |
6105 "warnings": [] | |
5551 }, | 6106 }, |
5552 { | 6107 { |
5553 "gene": "SLCO1B1", | 6108 "gene": "SLCO1B1", |
5554 "chromosome": "chr12", | 6109 "chromosome": "chr12", |
5555 "position": 21202555, | 6110 "position": 21202555, |
5558 "alleles": [ | 6113 "alleles": [ |
5559 "*27" | 6114 "*27" |
5560 ], | 6115 ], |
5561 "phased": true, | 6116 "phased": true, |
5562 "wildtypeAllele": "C", | 6117 "wildtypeAllele": "C", |
5563 "mismatch": false | 6118 "mismatch": false, |
6119 "warnings": [] | |
5564 }, | 6120 }, |
5565 { | 6121 { |
5566 "gene": "SLCO1B1", | 6122 "gene": "SLCO1B1", |
5567 "chromosome": "chr12", | 6123 "chromosome": "chr12", |
5568 "position": 21202649, | 6124 "position": 21202649, |
5571 "alleles": [ | 6127 "alleles": [ |
5572 "*7" | 6128 "*7" |
5573 ], | 6129 ], |
5574 "phased": true, | 6130 "phased": true, |
5575 "wildtypeAllele": "A", | 6131 "wildtypeAllele": "A", |
5576 "mismatch": false | 6132 "mismatch": false, |
6133 "warnings": [] | |
5577 }, | 6134 }, |
5578 { | 6135 { |
5579 "gene": "SLCO1B1", | 6136 "gene": "SLCO1B1", |
5580 "chromosome": "chr12", | 6137 "chromosome": "chr12", |
5581 "position": 21202664, | 6138 "position": 21202664, |
5584 "alleles": [ | 6141 "alleles": [ |
5585 "*26" | 6142 "*26" |
5586 ], | 6143 ], |
5587 "phased": true, | 6144 "phased": true, |
5588 "wildtypeAllele": "G", | 6145 "wildtypeAllele": "G", |
5589 "mismatch": false | 6146 "mismatch": false, |
6147 "warnings": [] | |
5590 }, | 6148 }, |
5591 { | 6149 { |
5592 "gene": "SLCO1B1", | 6150 "gene": "SLCO1B1", |
5593 "chromosome": "chr12", | 6151 "chromosome": "chr12", |
5594 "position": 21205921, | 6152 "position": 21205921, |
5597 "alleles": [ | 6155 "alleles": [ |
5598 "*8" | 6156 "*8" |
5599 ], | 6157 ], |
5600 "phased": true, | 6158 "phased": true, |
5601 "wildtypeAllele": "A", | 6159 "wildtypeAllele": "A", |
5602 "mismatch": false | 6160 "mismatch": false, |
6161 "warnings": [] | |
5603 }, | 6162 }, |
5604 { | 6163 { |
5605 "gene": "SLCO1B1", | 6164 "gene": "SLCO1B1", |
5606 "chromosome": "chr12", | 6165 "chromosome": "chr12", |
5607 "position": 21205999, | 6166 "position": 21205999, |
5611 "*9", | 6170 "*9", |
5612 "*31" | 6171 "*31" |
5613 ], | 6172 ], |
5614 "phased": true, | 6173 "phased": true, |
5615 "wildtypeAllele": "G", | 6174 "wildtypeAllele": "G", |
5616 "mismatch": false | 6175 "mismatch": false, |
6176 "warnings": [] | |
5617 }, | 6177 }, |
5618 { | 6178 { |
5619 "gene": "SLCO1B1", | 6179 "gene": "SLCO1B1", |
5620 "chromosome": "chr12", | 6180 "chromosome": "chr12", |
5621 "position": 21239042, | 6181 "position": 21239042, |
5626 "*20", | 6186 "*20", |
5627 "*40" | 6187 "*40" |
5628 ], | 6188 ], |
5629 "phased": true, | 6189 "phased": true, |
5630 "wildtypeAllele": "A", | 6190 "wildtypeAllele": "A", |
5631 "mismatch": false | 6191 "mismatch": false, |
6192 "warnings": [] | |
5632 }, | 6193 }, |
5633 { | 6194 { |
5634 "gene": "SLCO1B1", | 6195 "gene": "SLCO1B1", |
5635 "chromosome": "chr12", | 6196 "chromosome": "chr12", |
5636 "position": 21239077, | 6197 "position": 21239077, |
5640 "*10", | 6201 "*10", |
5641 "*12" | 6202 "*12" |
5642 ], | 6203 ], |
5643 "phased": true, | 6204 "phased": true, |
5644 "wildtypeAllele": "A", | 6205 "wildtypeAllele": "A", |
5645 "mismatch": false | 6206 "mismatch": false, |
6207 "warnings": [] | |
5646 }, | 6208 }, |
5647 { | 6209 { |
5648 "gene": "SLCO1B1", | 6210 "gene": "SLCO1B1", |
5649 "chromosome": "chr12", | 6211 "chromosome": "chr12", |
5650 "position": 21239113, | 6212 "position": 21239113, |
5654 "*11", | 6216 "*11", |
5655 "*13" | 6217 "*13" |
5656 ], | 6218 ], |
5657 "phased": true, | 6219 "phased": true, |
5658 "wildtypeAllele": "A", | 6220 "wildtypeAllele": "A", |
5659 "mismatch": false | 6221 "mismatch": false, |
6222 "warnings": [] | |
5660 }, | 6223 }, |
5661 { | 6224 { |
5662 "gene": "SLCO1B1", | 6225 "gene": "SLCO1B1", |
5663 "chromosome": "chr12", | 6226 "chromosome": "chr12", |
5664 "position": 21239145, | 6227 "position": 21239145, |
5667 "alleles": [ | 6230 "alleles": [ |
5668 "*34" | 6231 "*34" |
5669 ], | 6232 ], |
5670 "phased": true, | 6233 "phased": true, |
5671 "wildtypeAllele": "C", | 6234 "wildtypeAllele": "C", |
5672 "mismatch": false | 6235 "mismatch": false, |
6236 "warnings": [] | |
5673 }, | 6237 }, |
5674 { | 6238 { |
5675 "gene": "SLCO1B1", | 6239 "gene": "SLCO1B1", |
5676 "chromosome": "chr12", | 6240 "chromosome": "chr12", |
5677 "position": 21239158, | 6241 "position": 21239158, |
5680 "alleles": [ | 6244 "alleles": [ |
5681 "*29" | 6245 "*29" |
5682 ], | 6246 ], |
5683 "phased": true, | 6247 "phased": true, |
5684 "wildtypeAllele": "C", | 6248 "wildtypeAllele": "C", |
5685 "mismatch": false | 6249 "mismatch": false, |
6250 "warnings": [] | |
5686 }, | 6251 }, |
5687 { | 6252 { |
5688 "gene": "SLCO1B1", | 6253 "gene": "SLCO1B1", |
5689 "chromosome": "chr12", | 6254 "chromosome": "chr12", |
5690 "position": 21176871, | 6255 "position": 21176871, |
5693 "alleles": [ | 6258 "alleles": [ |
5694 "*38" | 6259 "*38" |
5695 ], | 6260 ], |
5696 "phased": false, | 6261 "phased": false, |
5697 "wildtypeAllele": "G", | 6262 "wildtypeAllele": "G", |
5698 "mismatch": false | 6263 "mismatch": false, |
6264 "warnings": [] | |
5699 }, | 6265 }, |
5700 { | 6266 { |
5701 "gene": "SLCO1B1", | 6267 "gene": "SLCO1B1", |
5702 "chromosome": "chr12", | 6268 "chromosome": "chr12", |
5703 "position": 21176898, | 6269 "position": 21176898, |
5706 "alleles": [ | 6272 "alleles": [ |
5707 "*41" | 6273 "*41" |
5708 ], | 6274 ], |
5709 "phased": false, | 6275 "phased": false, |
5710 "wildtypeAllele": "G", | 6276 "wildtypeAllele": "G", |
5711 "mismatch": false | 6277 "mismatch": false, |
6278 "warnings": [] | |
5712 }, | 6279 }, |
5713 { | 6280 { |
5714 "gene": "SLCO1B1", | 6281 "gene": "SLCO1B1", |
5715 "chromosome": "chr12", | 6282 "chromosome": "chr12", |
5716 "position": 21178612, | 6283 "position": 21178612, |
5719 "alleles": [ | 6286 "alleles": [ |
5720 "*42" | 6287 "*42" |
5721 ], | 6288 ], |
5722 "phased": false, | 6289 "phased": false, |
5723 "wildtypeAllele": "A", | 6290 "wildtypeAllele": "A", |
5724 "mismatch": false | 6291 "mismatch": false, |
6292 "warnings": [] | |
5725 }, | 6293 }, |
5726 { | 6294 { |
5727 "gene": "SLCO1B1", | 6295 "gene": "SLCO1B1", |
5728 "chromosome": "chr12", | 6296 "chromosome": "chr12", |
5729 "position": 21196975, | 6297 "position": 21196975, |
5732 "alleles": [ | 6300 "alleles": [ |
5733 "*39" | 6301 "*39" |
5734 ], | 6302 ], |
5735 "phased": false, | 6303 "phased": false, |
5736 "wildtypeAllele": "C", | 6304 "wildtypeAllele": "C", |
5737 "mismatch": false | 6305 "mismatch": false, |
6306 "warnings": [] | |
5738 }, | 6307 }, |
5739 { | 6308 { |
5740 "gene": "SLCO1B1", | 6309 "gene": "SLCO1B1", |
5741 "chromosome": "chr12", | 6310 "chromosome": "chr12", |
5742 "position": 21200544, | 6311 "position": 21200544, |
5745 "alleles": [ | 6314 "alleles": [ |
5746 "*47" | 6315 "*47" |
5747 ], | 6316 ], |
5748 "phased": false, | 6317 "phased": false, |
5749 "wildtypeAllele": "C", | 6318 "wildtypeAllele": "C", |
5750 "mismatch": false | 6319 "mismatch": false, |
6320 "warnings": [] | |
5751 }, | 6321 }, |
5752 { | 6322 { |
5753 "gene": "SLCO1B1", | 6323 "gene": "SLCO1B1", |
5754 "chromosome": "chr12", | 6324 "chromosome": "chr12", |
5755 "position": 21206031, | 6325 "position": 21206031, |
5759 "*43", | 6329 "*43", |
5760 "*44" | 6330 "*44" |
5761 ], | 6331 ], |
5762 "phased": false, | 6332 "phased": false, |
5763 "wildtypeAllele": "A", | 6333 "wildtypeAllele": "A", |
5764 "mismatch": false | 6334 "mismatch": false, |
6335 "warnings": [] | |
5765 }, | 6336 }, |
5766 { | 6337 { |
5767 "gene": "SLCO1B1", | 6338 "gene": "SLCO1B1", |
5768 "chromosome": "chr12", | 6339 "chromosome": "chr12", |
5769 "position": 21222355, | 6340 "position": 21222355, |
5773 "*45", | 6344 "*45", |
5774 "*46" | 6345 "*46" |
5775 ], | 6346 ], |
5776 "phased": false, | 6347 "phased": false, |
5777 "wildtypeAllele": "C", | 6348 "wildtypeAllele": "C", |
5778 "mismatch": false | 6349 "mismatch": false, |
6350 "warnings": [] | |
5779 } | 6351 } |
5780 ], | 6352 ], |
5781 "variantsOfInterest": [], | 6353 "variantsOfInterest": [], |
5782 "highlightedVariants": [ | 6354 "highlightedVariants": [ |
5783 "rs4149056T/rs4149056T" | 6355 "rs4149056T/rs4149056T" |
5820 "name": "*1", | 6392 "name": "*1", |
5821 "function": "Normal Function", | 6393 "function": "Normal Function", |
5822 "reference": true | 6394 "reference": true |
5823 }, | 6395 }, |
5824 "gene": "TPMT", | 6396 "gene": "TPMT", |
5825 "phenotype": "Normal Metabolizer", | 6397 "phenotypes": [ |
6398 "Normal Metabolizer" | |
6399 ], | |
5826 "variant": null, | 6400 "variant": null, |
5827 "lookupKey": "Normal Metabolizer", | 6401 "lookupKey": [ |
6402 "Normal Metabolizer" | |
6403 ], | |
5828 "label": "*1/*1" | 6404 "label": "*1/*1" |
5829 } | 6405 } |
5830 ], | 6406 ], |
5831 "diplotypes": [ | 6407 "diplotypes": [ |
5832 { | 6408 { |
5841 "name": "*1", | 6417 "name": "*1", |
5842 "function": "Normal Function", | 6418 "function": "Normal Function", |
5843 "reference": true | 6419 "reference": true |
5844 }, | 6420 }, |
5845 "gene": "TPMT", | 6421 "gene": "TPMT", |
5846 "phenotype": "Normal Metabolizer", | 6422 "phenotypes": [ |
6423 "Normal Metabolizer" | |
6424 ], | |
5847 "variant": null, | 6425 "variant": null, |
5848 "lookupKey": "Normal Metabolizer", | 6426 "lookupKey": [ |
6427 "Normal Metabolizer" | |
6428 ], | |
5849 "label": "*1/*1" | 6429 "label": "*1/*1" |
5850 } | 6430 } |
5851 ], | 6431 ], |
5852 "variants": [ | 6432 "variants": [ |
5853 { | 6433 { |
5861 "*3C", | 6441 "*3C", |
5862 "*41" | 6442 "*41" |
5863 ], | 6443 ], |
5864 "phased": true, | 6444 "phased": true, |
5865 "wildtypeAllele": "T", | 6445 "wildtypeAllele": "T", |
5866 "mismatch": false | 6446 "mismatch": false, |
6447 "warnings": [] | |
5867 }, | 6448 }, |
5868 { | 6449 { |
5869 "gene": "TPMT", | 6450 "gene": "TPMT", |
5870 "chromosome": "chr6", | 6451 "chromosome": "chr6", |
5871 "position": 18130694, | 6452 "position": 18130694, |
5874 "alleles": [ | 6455 "alleles": [ |
5875 "*20" | 6456 "*20" |
5876 ], | 6457 ], |
5877 "phased": true, | 6458 "phased": true, |
5878 "wildtypeAllele": "T", | 6459 "wildtypeAllele": "T", |
5879 "mismatch": false | 6460 "mismatch": false, |
6461 "warnings": [] | |
5880 }, | 6462 }, |
5881 { | 6463 { |
5882 "gene": "TPMT", | 6464 "gene": "TPMT", |
5883 "chromosome": "chr6", | 6465 "chromosome": "chr6", |
5884 "position": 18130725, | 6466 "position": 18130725, |
5887 "alleles": [ | 6469 "alleles": [ |
5888 "*7" | 6470 "*7" |
5889 ], | 6471 ], |
5890 "phased": true, | 6472 "phased": true, |
5891 "wildtypeAllele": "A", | 6473 "wildtypeAllele": "A", |
5892 "mismatch": false | 6474 "mismatch": false, |
6475 "warnings": [] | |
5893 }, | 6476 }, |
5894 { | 6477 { |
5895 "gene": "TPMT", | 6478 "gene": "TPMT", |
5896 "chromosome": "chr6", | 6479 "chromosome": "chr6", |
5897 "position": 18130729, | 6480 "position": 18130729, |
5900 "alleles": [ | 6483 "alleles": [ |
5901 "*40" | 6484 "*40" |
5902 ], | 6485 ], |
5903 "phased": true, | 6486 "phased": true, |
5904 "wildtypeAllele": "C", | 6487 "wildtypeAllele": "C", |
5905 "mismatch": false | 6488 "mismatch": false, |
6489 "warnings": [] | |
5906 }, | 6490 }, |
5907 { | 6491 { |
5908 "gene": "TPMT", | 6492 "gene": "TPMT", |
5909 "chromosome": "chr6", | 6493 "chromosome": "chr6", |
5910 "position": 18130758, | 6494 "position": 18130758, |
5913 "alleles": [ | 6497 "alleles": [ |
5914 "*37" | 6498 "*37" |
5915 ], | 6499 ], |
5916 "phased": true, | 6500 "phased": true, |
5917 "wildtypeAllele": "A", | 6501 "wildtypeAllele": "A", |
5918 "mismatch": false | 6502 "mismatch": false, |
6503 "warnings": [] | |
5919 }, | 6504 }, |
5920 { | 6505 { |
5921 "gene": "TPMT", | 6506 "gene": "TPMT", |
5922 "chromosome": "chr6", | 6507 "chromosome": "chr6", |
5923 "position": 18130762, | 6508 "position": 18130762, |
5926 "alleles": [ | 6511 "alleles": [ |
5927 "*8" | 6512 "*8" |
5928 ], | 6513 ], |
5929 "phased": true, | 6514 "phased": true, |
5930 "wildtypeAllele": "C", | 6515 "wildtypeAllele": "C", |
5931 "mismatch": false | 6516 "mismatch": false, |
6517 "warnings": [] | |
5932 }, | 6518 }, |
5933 { | 6519 { |
5934 "gene": "TPMT", | 6520 "gene": "TPMT", |
5935 "chromosome": "chr6", | 6521 "chromosome": "chr6", |
5936 "position": 18130772, | 6522 "position": 18130772, |
5939 "alleles": [ | 6525 "alleles": [ |
5940 "*25" | 6526 "*25" |
5941 ], | 6527 ], |
5942 "phased": true, | 6528 "phased": true, |
5943 "wildtypeAllele": "A", | 6529 "wildtypeAllele": "A", |
5944 "mismatch": false | 6530 "mismatch": false, |
6531 "warnings": [] | |
5945 }, | 6532 }, |
5946 { | 6533 { |
5947 "gene": "TPMT", | 6534 "gene": "TPMT", |
5948 "chromosome": "chr6", | 6535 "chromosome": "chr6", |
5949 "position": 18130781, | 6536 "position": 18130781, |
5952 "alleles": [ | 6539 "alleles": [ |
5953 "*4" | 6540 "*4" |
5954 ], | 6541 ], |
5955 "phased": true, | 6542 "phased": true, |
5956 "wildtypeAllele": "C", | 6543 "wildtypeAllele": "C", |
5957 "mismatch": false | 6544 "mismatch": false, |
6545 "warnings": [] | |
5958 }, | 6546 }, |
5959 { | 6547 { |
5960 "gene": "TPMT", | 6548 "gene": "TPMT", |
5961 "chromosome": "chr6", | 6549 "chromosome": "chr6", |
5962 "position": 18132136, | 6550 "position": 18132136, |
5965 "alleles": [ | 6553 "alleles": [ |
5966 "*26" | 6554 "*26" |
5967 ], | 6555 ], |
5968 "phased": true, | 6556 "phased": true, |
5969 "wildtypeAllele": "A", | 6557 "wildtypeAllele": "A", |
5970 "mismatch": false | 6558 "mismatch": false, |
6559 "warnings": [] | |
5971 }, | 6560 }, |
5972 { | 6561 { |
5973 "gene": "TPMT", | 6562 "gene": "TPMT", |
5974 "chromosome": "chr6", | 6563 "chromosome": "chr6", |
5975 "position": 18132147, | 6564 "position": 18132147, |
5978 "alleles": [ | 6567 "alleles": [ |
5979 "*31" | 6568 "*31" |
5980 ], | 6569 ], |
5981 "phased": true, | 6570 "phased": true, |
5982 "wildtypeAllele": "A", | 6571 "wildtypeAllele": "A", |
5983 "mismatch": false | 6572 "mismatch": false, |
6573 "warnings": [] | |
5984 }, | 6574 }, |
5985 { | 6575 { |
5986 "gene": "TPMT", | 6576 "gene": "TPMT", |
5987 "chromosome": "chr6", | 6577 "chromosome": "chr6", |
5988 "position": 18132163, | 6578 "position": 18132163, |
5991 "alleles": [ | 6581 "alleles": [ |
5992 "*36" | 6582 "*36" |
5993 ], | 6583 ], |
5994 "phased": true, | 6584 "phased": true, |
5995 "wildtypeAllele": "C", | 6585 "wildtypeAllele": "C", |
5996 "mismatch": false | 6586 "mismatch": false, |
6587 "warnings": [] | |
5997 }, | 6588 }, |
5998 { | 6589 { |
5999 "gene": "TPMT", | 6590 "gene": "TPMT", |
6000 "chromosome": "chr6", | 6591 "chromosome": "chr6", |
6001 "position": 18133845, | 6592 "position": 18133845, |
6004 "alleles": [ | 6595 "alleles": [ |
6005 "*6" | 6596 "*6" |
6006 ], | 6597 ], |
6007 "phased": true, | 6598 "phased": true, |
6008 "wildtypeAllele": "T", | 6599 "wildtypeAllele": "T", |
6009 "mismatch": false | 6600 "mismatch": false, |
6601 "warnings": [] | |
6010 }, | 6602 }, |
6011 { | 6603 { |
6012 "gene": "TPMT", | 6604 "gene": "TPMT", |
6013 "chromosome": "chr6", | 6605 "chromosome": "chr6", |
6014 "position": 18133847, | 6606 "position": 18133847, |
6017 "alleles": [ | 6609 "alleles": [ |
6018 "*24" | 6610 "*24" |
6019 ], | 6611 ], |
6020 "phased": true, | 6612 "phased": true, |
6021 "wildtypeAllele": "C", | 6613 "wildtypeAllele": "C", |
6022 "mismatch": false | 6614 "mismatch": false, |
6615 "warnings": [] | |
6023 }, | 6616 }, |
6024 { | 6617 { |
6025 "gene": "TPMT", | 6618 "gene": "TPMT", |
6026 "chromosome": "chr6", | 6619 "chromosome": "chr6", |
6027 "position": 18133870, | 6620 "position": 18133870, |
6030 "alleles": [ | 6623 "alleles": [ |
6031 "*38" | 6624 "*38" |
6032 ], | 6625 ], |
6033 "phased": true, | 6626 "phased": true, |
6034 "wildtypeAllele": "A", | 6627 "wildtypeAllele": "A", |
6035 "mismatch": false | 6628 "mismatch": false, |
6629 "warnings": [] | |
6036 }, | 6630 }, |
6037 { | 6631 { |
6038 "gene": "TPMT", | 6632 "gene": "TPMT", |
6039 "chromosome": "chr6", | 6633 "chromosome": "chr6", |
6040 "position": 18133884, | 6634 "position": 18133884, |
6043 "alleles": [ | 6637 "alleles": [ |
6044 "*23" | 6638 "*23" |
6045 ], | 6639 ], |
6046 "phased": true, | 6640 "phased": true, |
6047 "wildtypeAllele": "G", | 6641 "wildtypeAllele": "G", |
6048 "mismatch": false | 6642 "mismatch": false, |
6643 "warnings": [] | |
6049 }, | 6644 }, |
6050 { | 6645 { |
6051 "gene": "TPMT", | 6646 "gene": "TPMT", |
6052 "chromosome": "chr6", | 6647 "chromosome": "chr6", |
6053 "position": 18133887, | 6648 "position": 18133887, |
6056 "alleles": [ | 6651 "alleles": [ |
6057 "*44" | 6652 "*44" |
6058 ], | 6653 ], |
6059 "phased": true, | 6654 "phased": true, |
6060 "wildtypeAllele": "T", | 6655 "wildtypeAllele": "T", |
6061 "mismatch": false | 6656 "mismatch": false, |
6657 "warnings": [] | |
6062 }, | 6658 }, |
6063 { | 6659 { |
6064 "gene": "TPMT", | 6660 "gene": "TPMT", |
6065 "chromosome": "chr6", | 6661 "chromosome": "chr6", |
6066 "position": 18133890, | 6662 "position": 18133890, |
6069 "alleles": [ | 6665 "alleles": [ |
6070 "*15" | 6666 "*15" |
6071 ], | 6667 ], |
6072 "phased": true, | 6668 "phased": true, |
6073 "wildtypeAllele": "C", | 6669 "wildtypeAllele": "C", |
6074 "mismatch": false | 6670 "mismatch": false, |
6671 "warnings": [] | |
6075 }, | 6672 }, |
6076 { | 6673 { |
6077 "gene": "TPMT", | 6674 "gene": "TPMT", |
6078 "chromosome": "chr6", | 6675 "chromosome": "chr6", |
6079 "position": 18138969, | 6676 "position": 18138969, |
6083 "*16", | 6680 "*16", |
6084 "*22" | 6681 "*22" |
6085 ], | 6682 ], |
6086 "phased": true, | 6683 "phased": true, |
6087 "wildtypeAllele": "C", | 6684 "wildtypeAllele": "C", |
6088 "mismatch": false | 6685 "mismatch": false, |
6686 "warnings": [] | |
6089 }, | 6687 }, |
6090 { | 6688 { |
6091 "gene": "TPMT", | 6689 "gene": "TPMT", |
6092 "chromosome": "chr6", | 6690 "chromosome": "chr6", |
6093 "position": 18138970, | 6691 "position": 18138970, |
6096 "alleles": [ | 6694 "alleles": [ |
6097 "*33" | 6695 "*33" |
6098 ], | 6696 ], |
6099 "phased": true, | 6697 "phased": true, |
6100 "wildtypeAllele": "G", | 6698 "wildtypeAllele": "G", |
6101 "mismatch": false | 6699 "mismatch": false, |
6700 "warnings": [] | |
6102 }, | 6701 }, |
6103 { | 6702 { |
6104 "gene": "TPMT", | 6703 "gene": "TPMT", |
6105 "chromosome": "chr6", | 6704 "chromosome": "chr6", |
6106 "position": 18138997, | 6705 "position": 18138997, |
6110 "*3A", | 6709 "*3A", |
6111 "*3B" | 6710 "*3B" |
6112 ], | 6711 ], |
6113 "phased": true, | 6712 "phased": true, |
6114 "wildtypeAllele": "C", | 6713 "wildtypeAllele": "C", |
6115 "mismatch": false | 6714 "mismatch": false, |
6715 "warnings": [] | |
6116 }, | 6716 }, |
6117 { | 6717 { |
6118 "gene": "TPMT", | 6718 "gene": "TPMT", |
6119 "chromosome": "chr6", | 6719 "chromosome": "chr6", |
6120 "position": 18139027, | 6720 "position": 18139027, |
6123 "alleles": [ | 6723 "alleles": [ |
6124 "*10" | 6724 "*10" |
6125 ], | 6725 ], |
6126 "phased": true, | 6726 "phased": true, |
6127 "wildtypeAllele": "C", | 6727 "wildtypeAllele": "C", |
6128 "mismatch": false | 6728 "mismatch": false, |
6729 "warnings": [] | |
6129 }, | 6730 }, |
6130 { | 6731 { |
6131 "gene": "TPMT", | 6732 "gene": "TPMT", |
6132 "chromosome": "chr6", | 6733 "chromosome": "chr6", |
6133 "position": 18139689, | 6734 "position": 18139689, |
6136 "alleles": [ | 6737 "alleles": [ |
6137 "*11" | 6738 "*11" |
6138 ], | 6739 ], |
6139 "phased": true, | 6740 "phased": true, |
6140 "wildtypeAllele": "C", | 6741 "wildtypeAllele": "C", |
6141 "mismatch": false | 6742 "mismatch": false, |
6743 "warnings": [] | |
6142 }, | 6744 }, |
6143 { | 6745 { |
6144 "gene": "TPMT", | 6746 "gene": "TPMT", |
6145 "chromosome": "chr6", | 6747 "chromosome": "chr6", |
6146 "position": 18139710, | 6748 "position": 18139710, |
6149 "alleles": [ | 6751 "alleles": [ |
6150 "*12" | 6752 "*12" |
6151 ], | 6753 ], |
6152 "phased": true, | 6754 "phased": true, |
6153 "wildtypeAllele": "G", | 6755 "wildtypeAllele": "G", |
6154 "mismatch": false | 6756 "mismatch": false, |
6757 "warnings": [] | |
6155 }, | 6758 }, |
6156 { | 6759 { |
6157 "gene": "TPMT", | 6760 "gene": "TPMT", |
6158 "chromosome": "chr6", | 6761 "chromosome": "chr6", |
6159 "position": 18143597, | 6762 "position": 18143597, |
6162 "alleles": [ | 6765 "alleles": [ |
6163 "*19" | 6766 "*19" |
6164 ], | 6767 ], |
6165 "phased": true, | 6768 "phased": true, |
6166 "wildtypeAllele": "T", | 6769 "wildtypeAllele": "T", |
6167 "mismatch": false | 6770 "mismatch": false, |
6771 "warnings": [] | |
6168 }, | 6772 }, |
6169 { | 6773 { |
6170 "gene": "TPMT", | 6774 "gene": "TPMT", |
6171 "chromosome": "chr6", | 6775 "chromosome": "chr6", |
6172 "position": 18143606, | 6776 "position": 18143606, |
6175 "alleles": [ | 6779 "alleles": [ |
6176 "*9" | 6780 "*9" |
6177 ], | 6781 ], |
6178 "phased": true, | 6782 "phased": true, |
6179 "wildtypeAllele": "T", | 6783 "wildtypeAllele": "T", |
6180 "mismatch": false | 6784 "mismatch": false, |
6785 "warnings": [] | |
6181 }, | 6786 }, |
6182 { | 6787 { |
6183 "gene": "TPMT", | 6788 "gene": "TPMT", |
6184 "chromosome": "chr6", | 6789 "chromosome": "chr6", |
6185 "position": 18143613, | 6790 "position": 18143613, |
6188 "alleles": [ | 6793 "alleles": [ |
6189 "*28" | 6794 "*28" |
6190 ], | 6795 ], |
6191 "phased": true, | 6796 "phased": true, |
6192 "wildtypeAllele": "C", | 6797 "wildtypeAllele": "C", |
6193 "mismatch": false | 6798 "mismatch": false, |
6799 "warnings": [] | |
6194 }, | 6800 }, |
6195 { | 6801 { |
6196 "gene": "TPMT", | 6802 "gene": "TPMT", |
6197 "chromosome": "chr6", | 6803 "chromosome": "chr6", |
6198 "position": 18143622, | 6804 "position": 18143622, |
6201 "alleles": [ | 6807 "alleles": [ |
6202 "*32" | 6808 "*32" |
6203 ], | 6809 ], |
6204 "phased": true, | 6810 "phased": true, |
6205 "wildtypeAllele": "C", | 6811 "wildtypeAllele": "C", |
6206 "mismatch": false | 6812 "mismatch": false, |
6813 "warnings": [] | |
6207 }, | 6814 }, |
6208 { | 6815 { |
6209 "gene": "TPMT", | 6816 "gene": "TPMT", |
6210 "chromosome": "chr6", | 6817 "chromosome": "chr6", |
6211 "position": 18143643, | 6818 "position": 18143643, |
6214 "alleles": [ | 6821 "alleles": [ |
6215 "*27" | 6822 "*27" |
6216 ], | 6823 ], |
6217 "phased": true, | 6824 "phased": true, |
6218 "wildtypeAllele": "A", | 6825 "wildtypeAllele": "A", |
6219 "mismatch": false | 6826 "mismatch": false, |
6827 "warnings": [] | |
6220 }, | 6828 }, |
6221 { | 6829 { |
6222 "gene": "TPMT", | 6830 "gene": "TPMT", |
6223 "chromosome": "chr6", | 6831 "chromosome": "chr6", |
6224 "position": 18143700, | 6832 "position": 18143700, |
6227 "alleles": [ | 6835 "alleles": [ |
6228 "*43" | 6836 "*43" |
6229 ], | 6837 ], |
6230 "phased": true, | 6838 "phased": true, |
6231 "wildtypeAllele": "C", | 6839 "wildtypeAllele": "C", |
6232 "mismatch": false | 6840 "mismatch": false, |
6841 "warnings": [] | |
6233 }, | 6842 }, |
6234 { | 6843 { |
6235 "gene": "TPMT", | 6844 "gene": "TPMT", |
6236 "chromosome": "chr6", | 6845 "chromosome": "chr6", |
6237 "position": 18143718, | 6846 "position": 18143718, |
6240 "alleles": [ | 6849 "alleles": [ |
6241 "*34" | 6850 "*34" |
6242 ], | 6851 ], |
6243 "phased": true, | 6852 "phased": true, |
6244 "wildtypeAllele": "G", | 6853 "wildtypeAllele": "G", |
6245 "mismatch": false | 6854 "mismatch": false, |
6855 "warnings": [] | |
6246 }, | 6856 }, |
6247 { | 6857 { |
6248 "gene": "TPMT", | 6858 "gene": "TPMT", |
6249 "chromosome": "chr6", | 6859 "chromosome": "chr6", |
6250 "position": 18143724, | 6860 "position": 18143724, |
6253 "alleles": [ | 6863 "alleles": [ |
6254 "*2" | 6864 "*2" |
6255 ], | 6865 ], |
6256 "phased": true, | 6866 "phased": true, |
6257 "wildtypeAllele": "C", | 6867 "wildtypeAllele": "C", |
6258 "mismatch": false | 6868 "mismatch": false, |
6869 "warnings": [] | |
6259 }, | 6870 }, |
6260 { | 6871 { |
6261 "gene": "TPMT", | 6872 "gene": "TPMT", |
6262 "chromosome": "chr6", | 6873 "chromosome": "chr6", |
6263 "position": 18143728, | 6874 "position": 18143728, |
6266 "alleles": [ | 6877 "alleles": [ |
6267 "*43" | 6878 "*43" |
6268 ], | 6879 ], |
6269 "phased": true, | 6880 "phased": true, |
6270 "wildtypeAllele": "C", | 6881 "wildtypeAllele": "C", |
6271 "mismatch": false | 6882 "mismatch": false, |
6883 "warnings": [] | |
6272 }, | 6884 }, |
6273 { | 6885 { |
6274 "gene": "TPMT", | 6886 "gene": "TPMT", |
6275 "chromosome": "chr6", | 6887 "chromosome": "chr6", |
6276 "position": 18147838, | 6888 "position": 18147838, |
6279 "alleles": [ | 6891 "alleles": [ |
6280 "*39" | 6892 "*39" |
6281 ], | 6893 ], |
6282 "phased": true, | 6894 "phased": true, |
6283 "wildtypeAllele": "G", | 6895 "wildtypeAllele": "G", |
6284 "mismatch": false | 6896 "mismatch": false, |
6897 "warnings": [] | |
6285 }, | 6898 }, |
6286 { | 6899 { |
6287 "gene": "TPMT", | 6900 "gene": "TPMT", |
6288 "chromosome": "chr6", | 6901 "chromosome": "chr6", |
6289 "position": 18147845, | 6902 "position": 18147845, |
6292 "alleles": [ | 6905 "alleles": [ |
6293 "*18" | 6906 "*18" |
6294 ], | 6907 ], |
6295 "phased": true, | 6908 "phased": true, |
6296 "wildtypeAllele": "C", | 6909 "wildtypeAllele": "C", |
6297 "mismatch": false | 6910 "mismatch": false, |
6911 "warnings": [] | |
6298 }, | 6912 }, |
6299 { | 6913 { |
6300 "gene": "TPMT", | 6914 "gene": "TPMT", |
6301 "chromosome": "chr6", | 6915 "chromosome": "chr6", |
6302 "position": 18147851, | 6916 "position": 18147851, |
6305 "alleles": [ | 6919 "alleles": [ |
6306 "*21" | 6920 "*21" |
6307 ], | 6921 ], |
6308 "phased": true, | 6922 "phased": true, |
6309 "wildtypeAllele": "G", | 6923 "wildtypeAllele": "G", |
6310 "mismatch": false | 6924 "mismatch": false, |
6925 "warnings": [] | |
6311 }, | 6926 }, |
6312 { | 6927 { |
6313 "gene": "TPMT", | 6928 "gene": "TPMT", |
6314 "chromosome": "chr6", | 6929 "chromosome": "chr6", |
6315 "position": 18147856, | 6930 "position": 18147856, |
6318 "alleles": [ | 6933 "alleles": [ |
6319 "*35" | 6934 "*35" |
6320 ], | 6935 ], |
6321 "phased": true, | 6936 "phased": true, |
6322 "wildtypeAllele": "A", | 6937 "wildtypeAllele": "A", |
6323 "mismatch": false | 6938 "mismatch": false, |
6939 "warnings": [] | |
6324 }, | 6940 }, |
6325 { | 6941 { |
6326 "gene": "TPMT", | 6942 "gene": "TPMT", |
6327 "chromosome": "chr6", | 6943 "chromosome": "chr6", |
6328 "position": 18147910, | 6944 "position": 18147910, |
6331 "alleles": [ | 6947 "alleles": [ |
6332 "*5" | 6948 "*5" |
6333 ], | 6949 ], |
6334 "phased": true, | 6950 "phased": true, |
6335 "wildtypeAllele": "A", | 6951 "wildtypeAllele": "A", |
6336 "mismatch": false | 6952 "mismatch": false, |
6953 "warnings": [] | |
6337 }, | 6954 }, |
6338 { | 6955 { |
6339 "gene": "TPMT", | 6956 "gene": "TPMT", |
6340 "chromosome": "chr6", | 6957 "chromosome": "chr6", |
6341 "position": 18149004, | 6958 "position": 18149004, |
6344 "alleles": [ | 6961 "alleles": [ |
6345 "*17" | 6962 "*17" |
6346 ], | 6963 ], |
6347 "phased": true, | 6964 "phased": true, |
6348 "wildtypeAllele": "G", | 6965 "wildtypeAllele": "G", |
6349 "mismatch": false | 6966 "mismatch": false, |
6967 "warnings": [] | |
6350 }, | 6968 }, |
6351 { | 6969 { |
6352 "gene": "TPMT", | 6970 "gene": "TPMT", |
6353 "chromosome": "chr6", | 6971 "chromosome": "chr6", |
6354 "position": 18149022, | 6972 "position": 18149022, |
6357 "alleles": [ | 6975 "alleles": [ |
6358 "*30" | 6976 "*30" |
6359 ], | 6977 ], |
6360 "phased": true, | 6978 "phased": true, |
6361 "wildtypeAllele": "C", | 6979 "wildtypeAllele": "C", |
6362 "mismatch": false | 6980 "mismatch": false, |
6981 "warnings": [] | |
6363 }, | 6982 }, |
6364 { | 6983 { |
6365 "gene": "TPMT", | 6984 "gene": "TPMT", |
6366 "chromosome": "chr6", | 6985 "chromosome": "chr6", |
6367 "position": 18149032, | 6986 "position": 18149032, |
6370 "alleles": [ | 6989 "alleles": [ |
6371 "*42" | 6990 "*42" |
6372 ], | 6991 ], |
6373 "phased": true, | 6992 "phased": true, |
6374 "wildtypeAllele": "C", | 6993 "wildtypeAllele": "C", |
6375 "mismatch": false | 6994 "mismatch": false, |
6995 "warnings": [] | |
6376 }, | 6996 }, |
6377 { | 6997 { |
6378 "gene": "TPMT", | 6998 "gene": "TPMT", |
6379 "chromosome": "chr6", | 6999 "chromosome": "chr6", |
6380 "position": 18149045, | 7000 "position": 18149045, |
6383 "alleles": [ | 7003 "alleles": [ |
6384 "*13" | 7004 "*13" |
6385 ], | 7005 ], |
6386 "phased": true, | 7006 "phased": true, |
6387 "wildtypeAllele": "T", | 7007 "wildtypeAllele": "T", |
6388 "mismatch": false | 7008 "mismatch": false, |
7009 "warnings": [] | |
6389 }, | 7010 }, |
6390 { | 7011 { |
6391 "gene": "TPMT", | 7012 "gene": "TPMT", |
6392 "chromosome": "chr6", | 7013 "chromosome": "chr6", |
6393 "position": 18149126, | 7014 "position": 18149126, |
6396 "alleles": [ | 7017 "alleles": [ |
6397 "*29" | 7018 "*29" |
6398 ], | 7019 ], |
6399 "phased": true, | 7020 "phased": true, |
6400 "wildtypeAllele": "A", | 7021 "wildtypeAllele": "A", |
6401 "mismatch": false | 7022 "mismatch": false, |
7023 "warnings": [] | |
6402 }, | 7024 }, |
6403 { | 7025 { |
6404 "gene": "TPMT", | 7026 "gene": "TPMT", |
6405 "chromosome": "chr6", | 7027 "chromosome": "chr6", |
6406 "position": 18149127, | 7028 "position": 18149127, |
6409 "alleles": [ | 7031 "alleles": [ |
6410 "*14" | 7032 "*14" |
6411 ], | 7033 ], |
6412 "phased": true, | 7034 "phased": true, |
6413 "wildtypeAllele": "T", | 7035 "wildtypeAllele": "T", |
6414 "mismatch": false | 7036 "mismatch": false, |
7037 "warnings": [] | |
6415 } | 7038 } |
6416 ], | 7039 ], |
6417 "variantsOfInterest": [], | 7040 "variantsOfInterest": [], |
6418 "highlightedVariants": [] | 7041 "highlightedVariants": [] |
6419 }, | 7042 }, |
6454 "name": "*1", | 7077 "name": "*1", |
6455 "function": "Normal function", | 7078 "function": "Normal function", |
6456 "reference": true | 7079 "reference": true |
6457 }, | 7080 }, |
6458 "gene": "UGT1A1", | 7081 "gene": "UGT1A1", |
6459 "phenotype": "Normal Metabolizer", | 7082 "phenotypes": [ |
7083 "Normal Metabolizer" | |
7084 ], | |
6460 "variant": null, | 7085 "variant": null, |
6461 "lookupKey": "Normal Metabolizer", | 7086 "lookupKey": [ |
7087 "Normal Metabolizer" | |
7088 ], | |
6462 "label": "*1/*1" | 7089 "label": "*1/*1" |
6463 } | 7090 } |
6464 ], | 7091 ], |
6465 "diplotypes": [ | 7092 "diplotypes": [ |
6466 { | 7093 { |
6475 "name": "*1", | 7102 "name": "*1", |
6476 "function": "Normal function", | 7103 "function": "Normal function", |
6477 "reference": true | 7104 "reference": true |
6478 }, | 7105 }, |
6479 "gene": "UGT1A1", | 7106 "gene": "UGT1A1", |
6480 "phenotype": "Normal Metabolizer", | 7107 "phenotypes": [ |
7108 "Normal Metabolizer" | |
7109 ], | |
6481 "variant": null, | 7110 "variant": null, |
6482 "lookupKey": "Normal Metabolizer", | 7111 "lookupKey": [ |
7112 "Normal Metabolizer" | |
7113 ], | |
6483 "label": "*1/*1" | 7114 "label": "*1/*1" |
6484 } | 7115 } |
6485 ], | 7116 ], |
6486 "variants": [ | 7117 "variants": [ |
6487 { | 7118 { |
6495 "*80+*28", | 7126 "*80+*28", |
6496 "*80+*37" | 7127 "*80+*37" |
6497 ], | 7128 ], |
6498 "phased": true, | 7129 "phased": true, |
6499 "wildtypeAllele": "C", | 7130 "wildtypeAllele": "C", |
6500 "mismatch": false | 7131 "mismatch": false, |
7132 "warnings": [] | |
6501 }, | 7133 }, |
6502 { | 7134 { |
6503 "gene": "UGT1A1", | 7135 "gene": "UGT1A1", |
6504 "chromosome": "chr2", | 7136 "chromosome": "chr2", |
6505 "position": 233760233, | 7137 "position": 233760233, |
6512 "*80+*28", | 7144 "*80+*28", |
6513 "*80+*37" | 7145 "*80+*37" |
6514 ], | 7146 ], |
6515 "phased": true, | 7147 "phased": true, |
6516 "wildtypeAllele": "CAT", | 7148 "wildtypeAllele": "CAT", |
6517 "mismatch": false | 7149 "mismatch": false, |
7150 "warnings": [] | |
6518 }, | 7151 }, |
6519 { | 7152 { |
6520 "gene": "UGT1A1", | 7153 "gene": "UGT1A1", |
6521 "chromosome": "chr2", | 7154 "chromosome": "chr2", |
6522 "position": 233760498, | 7155 "position": 233760498, |
6525 "alleles": [ | 7158 "alleles": [ |
6526 "*6" | 7159 "*6" |
6527 ], | 7160 ], |
6528 "phased": true, | 7161 "phased": true, |
6529 "wildtypeAllele": "G", | 7162 "wildtypeAllele": "G", |
6530 "mismatch": false | 7163 "mismatch": false, |
7164 "warnings": [] | |
6531 }, | 7165 }, |
6532 { | 7166 { |
6533 "gene": "UGT1A1", | 7167 "gene": "UGT1A1", |
6534 "chromosome": "chr2", | 7168 "chromosome": "chr2", |
6535 "position": 233760973, | 7169 "position": 233760973, |
6538 "alleles": [ | 7172 "alleles": [ |
6539 "*27" | 7173 "*27" |
6540 ], | 7174 ], |
6541 "phased": true, | 7175 "phased": true, |
6542 "wildtypeAllele": "C", | 7176 "wildtypeAllele": "C", |
6543 "mismatch": false | 7177 "mismatch": false, |
7178 "warnings": [] | |
6544 } | 7179 } |
6545 ], | 7180 ], |
6546 "variantsOfInterest": [], | 7181 "variantsOfInterest": [], |
6547 "highlightedVariants": [] | 7182 "highlightedVariants": [] |
6548 }, | 7183 }, |
6598 "name": "rs9923231 reference (C)", | 7233 "name": "rs9923231 reference (C)", |
6599 "function": null, | 7234 "function": null, |
6600 "reference": true | 7235 "reference": true |
6601 }, | 7236 }, |
6602 "gene": "VKORC1", | 7237 "gene": "VKORC1", |
6603 "phenotype": null, | 7238 "phenotypes": [], |
6604 "variant": null, | 7239 "variant": null, |
6605 "lookupKey": null, | 7240 "lookupKey": [], |
6606 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7241 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
6607 } | 7242 } |
6608 ], | 7243 ], |
6609 "diplotypes": [ | 7244 "diplotypes": [ |
6610 { | 7245 { |
6619 "name": "rs9923231 reference (C)", | 7254 "name": "rs9923231 reference (C)", |
6620 "function": null, | 7255 "function": null, |
6621 "reference": true | 7256 "reference": true |
6622 }, | 7257 }, |
6623 "gene": "VKORC1", | 7258 "gene": "VKORC1", |
6624 "phenotype": null, | 7259 "phenotypes": [], |
6625 "variant": null, | 7260 "variant": null, |
6626 "lookupKey": null, | 7261 "lookupKey": [], |
6627 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7262 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
6628 } | 7263 } |
6629 ], | 7264 ], |
6630 "variants": [ | 7265 "variants": [ |
6631 { | 7266 { |
6637 "alleles": [ | 7272 "alleles": [ |
6638 "rs9923231 variant (T)" | 7273 "rs9923231 variant (T)" |
6639 ], | 7274 ], |
6640 "phased": true, | 7275 "phased": true, |
6641 "wildtypeAllele": "C", | 7276 "wildtypeAllele": "C", |
6642 "mismatch": false | 7277 "mismatch": false, |
7278 "warnings": [] | |
6643 } | 7279 } |
6644 ], | 7280 ], |
6645 "variantsOfInterest": [], | 7281 "variantsOfInterest": [], |
6646 "highlightedVariants": [] | 7282 "highlightedVariants": [] |
6647 } | 7283 } |