Mercurial > repos > bgruening > pharmcat

comparison test-data/test_1.pheno.json @ 0:d67642a21a1d draft

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"planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
author bgruening
date Fri, 28 Jan 2022 21:18:23 +0000
parents
children 891283e0ee89
comparison
equal deleted inserted replaced
-1:000000000000 0:d67642a21a1d
1 [
2 {
3 "geneSymbol": "CACNA1S",
4 "chr": "chr1",
5 "phased": true,
6 "callSource": "MATCHER",
7 "uncalledHaplotypes": [],
8 "messages": [],
9 "relatedDrugs": [
10 {
11 "name": "desflurane",
12 "guidelineId": "RxNorm:27340"
13 },
14 {
15 "name": "enflurane",
16 "guidelineId": "RxNorm:3920"
17 },
18 {
19 "name": "halothane",
20 "guidelineId": "RxNorm:5095"
21 },
22 {
23 "name": "isoflurane",
24 "guidelineId": "RxNorm:6026"
25 },
26 {
27 "name": "methoxyflurane",
28 "guidelineId": "RxNorm:6857"
29 },
30 {
31 "name": "sevoflurane",
32 "guidelineId": "RxNorm:36453"
33 },
34 {
35 "name": "succinylcholine",
36 "guidelineId": "RxNorm:10154"
37 }
38 ],
39 "matcherDiplotypes": [
40 {
41 "allele1": {
42 "gene": "CACNA1S",
43 "name": "Reference",
44 "function": "Normal Function",
45 "reference": true
46 },
47 "allele2": {
48 "gene": "CACNA1S",
49 "name": "Reference",
50 "function": "Normal Function",
51 "reference": true
52 },
53 "gene": "CACNA1S",
54 "phenotype": "Uncertain Susceptibility",
55 "variant": null,
56 "lookupKey": "Uncertain Susceptibility",
57 "label": "Reference/Reference"
58 }
59 ],
60 "diplotypes": [
61 {
62 "allele1": {
63 "gene": "CACNA1S",
64 "name": "Reference",
65 "function": "Normal Function",
66 "reference": true
67 },
68 "allele2": {
69 "gene": "CACNA1S",
70 "name": "Reference",
71 "function": "Normal Function",
72 "reference": true
73 },
74 "gene": "CACNA1S",
75 "phenotype": "Uncertain Susceptibility",
76 "variant": null,
77 "lookupKey": "Uncertain Susceptibility",
78 "label": "Reference/Reference"
79 }
80 ],
81 "variants": [
82 {
83 "gene": "CACNA1S",
84 "chromosome": "chr1",
85 "position": 201060815,
86 "dbSnpId": "rs1800559",
87 "call": "C|C",
88 "alleles": [
89 "c.3257G\u003eA"
90 ],
91 "phased": true,
92 "wildtypeAllele": "C",
93 "mismatch": false
94 },
95 {
96 "gene": "CACNA1S",
97 "chromosome": "chr1",
98 "position": 201091993,
99 "dbSnpId": "rs772226819",
100 "call": "G|G",
101 "alleles": [
102 "c.520C\u003eT"
103 ],
104 "phased": true,
105 "wildtypeAllele": "G",
106 "mismatch": false
107 }
108 ],
109 "variantsOfInterest": [],
110 "highlightedVariants": []
111 },
112 {
113 "geneSymbol": "CFTR",
114 "chr": "chr7",
115 "phased": true,
116 "callSource": "MATCHER",
117 "uncalledHaplotypes": [],
118 "messages": [],
119 "relatedDrugs": [
120 {
121 "name": "ivacaftor",
122 "guidelineId": "RxNorm:1243041"
123 }
124 ],
125 "matcherDiplotypes": [
126 {
127 "allele1": {
128 "gene": "CFTR",
129 "name": "ivacaftor non-responsive CFTR sequence",
130 "function": "ivacaftor non-responsive",
131 "reference": true
132 },
133 "allele2": {
134 "gene": "CFTR",
135 "name": "ivacaftor non-responsive CFTR sequence",
136 "function": "ivacaftor non-responsive",
137 "reference": true
138 },
139 "gene": "CFTR",
140 "phenotype": "ivacaftor non-responsive in CF patients",
141 "variant": null,
142 "lookupKey": "ivacaftor non-responsive in CF patients",
143 "label": "No CPIC variants found"
144 }
145 ],
146 "diplotypes": [
147 {
148 "allele1": {
149 "gene": "CFTR",
150 "name": "ivacaftor non-responsive CFTR sequence",
151 "function": "ivacaftor non-responsive",
152 "reference": true
153 },
154 "allele2": {
155 "gene": "CFTR",
156 "name": "ivacaftor non-responsive CFTR sequence",
157 "function": "ivacaftor non-responsive",
158 "reference": true
159 },
160 "gene": "CFTR",
161 "phenotype": "ivacaftor non-responsive in CF patients",
162 "variant": null,
163 "lookupKey": "ivacaftor non-responsive in CF patients",
164 "label": "No CPIC variants found"
165 }
166 ],
167 "variants": [
168 {
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172 "dbSnpId": "rs397508256",
173 "call": "G|G",
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175 "E56K"
176 ],
177 "phased": true,
178 "wildtypeAllele": "G",
179 "mismatch": false
180 },
181 {
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185 "dbSnpId": "rs368505753",
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189 ],
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193 },
194 {
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199 "call": "C|C",
200 "alleles": [
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202 ],
203 "phased": true,
204 "wildtypeAllele": "C",
205 "mismatch": false
206 },
207 {
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209 "chromosome": "chr7",
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211 "dbSnpId": "rs113993958",
212 "call": "G|G",
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215 ],
216 "phased": true,
217 "wildtypeAllele": "G",
218 "mismatch": false
219 },
220 {
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224 "dbSnpId": "rs397508537",
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228 ],
229 "phased": true,
230 "wildtypeAllele": "C",
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232 },
233 {
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242 "phased": true,
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245 },
246 {
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254 ],
255 "phased": true,
256 "wildtypeAllele": "G",
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258 },
259 {
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264 "call": "G|G",
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267 ],
268 "phased": true,
269 "wildtypeAllele": "G",
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271 },
272 {
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277 "call": "G|G",
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281 "phased": true,
282 "wildtypeAllele": "G",
283 "mismatch": false
284 },
285 {
286 "gene": "CFTR",
287 "chromosome": "chr7",
288 "position": 117534368,
289 "dbSnpId": "rs397508761",
290 "call": "A|A",
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293 ],
294 "phased": true,
295 "wildtypeAllele": "A",
296 "mismatch": false
297 },
298 {
299 "gene": "CFTR",
300 "chromosome": "chr7",
301 "position": 117535285,
302 "dbSnpId": "rs121908752",
303 "call": "T|T",
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306 ],
307 "phased": true,
308 "wildtypeAllele": "T",
309 "mismatch": false
310 },
311 {
312 "gene": "CFTR",
313 "chromosome": "chr7",
314 "position": 117540270,
315 "dbSnpId": "rs77932196",
316 "call": "G|G",
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319 ],
320 "phased": true,
321 "wildtypeAllele": "G",
322 "mismatch": false
323 },
324 {
325 "gene": "CFTR",
326 "chromosome": "chr7",
327 "position": 117540285,
328 "dbSnpId": "rs121908753",
329 "call": "G|G",
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332 ],
333 "phased": true,
334 "wildtypeAllele": "G",
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336 },
337 {
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349 },
350 {
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362 },
363 {
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376 {
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384 ],
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386 "wildtypeAllele": "T",
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388 },
389 {
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397 ],
398 "phased": true,
399 "wildtypeAllele": "G",
400 "mismatch": false
401 },
402 {
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406 "dbSnpId": "rs75527207",
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410 ],
411 "phased": true,
412 "wildtypeAllele": "G",
413 "mismatch": false
414 },
415 {
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423 ],
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427 },
428 {
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433 "call": "G|G",
434 "alleles": [
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436 ],
437 "phased": true,
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440 },
441 {
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446 "call": "G|G",
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449 ],
450 "phased": true,
451 "wildtypeAllele": "G",
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453 },
454 {
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456 "chromosome": "chr7",
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459 "call": "C|C",
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462 ],
463 "phased": true,
464 "wildtypeAllele": "C",
465 "mismatch": false
466 },
467 {
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475 ],
476 "phased": true,
477 "wildtypeAllele": "C",
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479 },
480 {
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482 "chromosome": "chr7",
483 "position": 117611555,
484 "dbSnpId": "rs76151804",
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488 ],
489 "phased": true,
490 "wildtypeAllele": "A",
491 "mismatch": false
492 },
493 {
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495 "chromosome": "chr7",
496 "position": 117611595,
497 "dbSnpId": "rs150212784",
498 "call": "T|T",
499 "alleles": [
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501 ],
502 "phased": true,
503 "wildtypeAllele": "T",
504 "mismatch": false
505 },
506 {
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508 "chromosome": "chr7",
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511 "call": "A|A",
512 "alleles": [
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514 ],
515 "phased": true,
516 "wildtypeAllele": "A",
517 "mismatch": false
518 },
519 {
520 "gene": "CFTR",
521 "chromosome": "chr7",
522 "position": 117611640,
523 "dbSnpId": "rs121909020",
524 "call": "G|G",
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527 ],
528 "phased": true,
529 "wildtypeAllele": "G",
530 "mismatch": false
531 },
532 {
533 "gene": "CFTR",
534 "chromosome": "chr7",
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537 "call": "G|G",
538 "alleles": [
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540 ],
541 "phased": true,
542 "wildtypeAllele": "G",
543 "mismatch": false
544 },
545 {
546 "gene": "CFTR",
547 "chromosome": "chr7",
548 "position": 117611649,
549 "dbSnpId": "rs202179988",
550 "call": "C|C",
551 "alleles": [
552 "R1070W"
553 ],
554 "phased": true,
555 "wildtypeAllele": "C",
556 "mismatch": false
557 },
558 {
559 "gene": "CFTR",
560 "chromosome": "chr7",
561 "position": 117611650,
562 "dbSnpId": "rs78769542",
563 "call": "G|G",
564 "alleles": [
565 "R1070Q"
566 ],
567 "phased": true,
568 "wildtypeAllele": "G",
569 "mismatch": false
570 },
571 {
572 "gene": "CFTR",
573 "chromosome": "chr7",
574 "position": 117611663,
575 "dbSnpId": "rs186045772",
576 "call": "T|T",
577 "alleles": [
578 "F1074L"
579 ],
580 "phased": true,
581 "wildtypeAllele": "T",
582 "mismatch": false
583 },
584 {
585 "gene": "CFTR",
586 "chromosome": "chr7",
587 "position": 117614699,
588 "dbSnpId": "rs75541969",
589 "call": "G|G",
590 "alleles": [
591 "D1152H"
592 ],
593 "phased": true,
594 "wildtypeAllele": "G",
595 "mismatch": false
596 },
597 {
598 "gene": "CFTR",
599 "chromosome": "chr7",
600 "position": 117639961,
601 "dbSnpId": "rs75039782",
602 "call": "C|C",
603 "alleles": [
604 "3849+10kbC-\u003eT"
605 ],
606 "phased": true,
607 "wildtypeAllele": "C",
608 "mismatch": false
609 },
610 {
611 "gene": "CFTR",
612 "chromosome": "chr7",
613 "position": 117642451,
614 "dbSnpId": "rs267606723",
615 "call": "G|G",
616 "alleles": [
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618 ],
619 "phased": true,
620 "wildtypeAllele": "G",
621 "mismatch": false
622 },
623 {
624 "gene": "CFTR",
625 "chromosome": "chr7",
626 "position": 117642472,
627 "dbSnpId": "rs74503330",
628 "call": "G|G",
629 "alleles": [
630 "S1251N"
631 ],
632 "phased": true,
633 "wildtypeAllele": "G",
634 "mismatch": false
635 },
636 {
637 "gene": "CFTR",
638 "chromosome": "chr7",
639 "position": 117642483,
640 "dbSnpId": "rs121909041",
641 "call": "T|T",
642 "alleles": [
643 "S1255P"
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645 "phased": true,
646 "wildtypeAllele": "T",
647 "mismatch": false
648 },
649 {
650 "gene": "CFTR",
651 "chromosome": "chr7",
652 "position": 117642528,
653 "dbSnpId": "rs11971167",
654 "call": "G|G",
655 "alleles": [
656 "D1270N"
657 ],
658 "phased": true,
659 "wildtypeAllele": "G",
660 "mismatch": false
661 },
662 {
663 "gene": "CFTR",
664 "chromosome": "chr7",
665 "position": 117664770,
666 "dbSnpId": "rs193922525",
667 "call": "G|G",
668 "alleles": [
669 "G1349D"
670 ],
671 "phased": true,
672 "wildtypeAllele": "G",
673 "mismatch": false
674 }
675 ],
676 "variantsOfInterest": [],
677 "highlightedVariants": []
678 },
679 {
680 "geneSymbol": "CYP2B6",
681 "chr": "chr19",
682 "phased": true,
683 "callSource": "MATCHER",
684 "uncalledHaplotypes": [],
685 "messages": [],
686 "relatedDrugs": [
687 {
688 "name": "efavirenz",
689 "guidelineId": "RxNorm:195085"
690 }
691 ],
692 "matcherDiplotypes": [
693 {
694 "allele1": {
695 "gene": "CYP2B6",
696 "name": "*1",
697 "function": "Normal function",
698 "reference": true
699 },
700 "allele2": {
701 "gene": "CYP2B6",
702 "name": "*1",
703 "function": "Normal function",
704 "reference": true
705 },
706 "gene": "CYP2B6",
707 "phenotype": "Normal Metabolizer",
708 "variant": null,
709 "lookupKey": "Normal Metabolizer",
710 "label": "*1/*1"
711 }
712 ],
713 "diplotypes": [
714 {
715 "allele1": {
716 "gene": "CYP2B6",
717 "name": "*1",
718 "function": "Normal function",
719 "reference": true
720 },
721 "allele2": {
722 "gene": "CYP2B6",
723 "name": "*1",
724 "function": "Normal function",
725 "reference": true
726 },
727 "gene": "CYP2B6",
728 "phenotype": "Normal Metabolizer",
729 "variant": null,
730 "lookupKey": "Normal Metabolizer",
731 "label": "*1/*1"
732 }
733 ],
734 "variants": [
735 {
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737 "chromosome": "chr19",
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740 "call": "T|T",
741 "alleles": [
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743 "*34",
744 "*35",
745 "*36"
746 ],
747 "phased": true,
748 "wildtypeAllele": "T",
749 "mismatch": false
750 },
751 {
752 "gene": "CYP2B6",
753 "chromosome": "chr19",
754 "position": 40991367,
755 "dbSnpId": "rs34883432",
756 "call": "A|A",
757 "alleles": [
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759 ],
760 "phased": true,
761 "wildtypeAllele": "A",
762 "mismatch": false
763 },
764 {
765 "gene": "CYP2B6",
766 "chromosome": "chr19",
767 "position": 40991369,
768 "dbSnpId": "rs8192709",
769 "call": "C|C",
770 "alleles": [
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772 "*10"
773 ],
774 "phased": true,
775 "wildtypeAllele": "C",
776 "mismatch": false
777 },
778 {
779 "gene": "CYP2B6",
780 "chromosome": "chr19",
781 "position": 40991381,
782 "dbSnpId": "rs33973337",
783 "call": "A|A",
784 "alleles": [
785 "*17"
786 ],
787 "phased": true,
788 "wildtypeAllele": "A",
789 "mismatch": false
790 },
791 {
792 "gene": "CYP2B6",
793 "chromosome": "chr19",
794 "position": 40991388,
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796 "call": "A|A",
797 "alleles": [
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799 ],
800 "phased": true,
801 "wildtypeAllele": "A",
802 "mismatch": false
803 },
804 {
805 "gene": "CYP2B6",
806 "chromosome": "chr19",
807 "position": 40991390,
808 "dbSnpId": "rs33926104",
809 "call": "C|C",
810 "alleles": [
811 "*17"
812 ],
813 "phased": true,
814 "wildtypeAllele": "C",
815 "mismatch": false
816 },
817 {
818 "gene": "CYP2B6",
819 "chromosome": "chr19",
820 "position": 40991391,
821 "dbSnpId": "rs34284776",
822 "call": "G|G",
823 "alleles": [
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825 ],
826 "phased": true,
827 "wildtypeAllele": "G",
828 "mismatch": false
829 },
830 {
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832 "chromosome": "chr19",
833 "position": 40991441,
834 "dbSnpId": "rs35303484",
835 "call": "A|A",
836 "alleles": [
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838 ],
839 "phased": true,
840 "wildtypeAllele": "A",
841 "mismatch": false
842 },
843 {
844 "gene": "CYP2B6",
845 "chromosome": "chr19",
846 "position": 41004015,
847 "dbSnpId": "rs281864907",
848 "call": "T|T",
849 "alleles": [
850 "*38"
851 ],
852 "phased": true,
853 "wildtypeAllele": "T",
854 "mismatch": false
855 },
856 {
857 "gene": "CYP2B6",
858 "chromosome": "chr19",
859 "position": 41004125,
860 "dbSnpId": "rs36060847",
861 "call": "G|G",
862 "alleles": [
863 "*12"
864 ],
865 "phased": true,
866 "wildtypeAllele": "G",
867 "mismatch": false
868 },
869 {
870 "gene": "CYP2B6",
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2540 ],
2541 "phased": true,
2542 "wildtypeAllele": "A",
2543 "mismatch": false
2544 },
2545 {
2546 "gene": "CYP2C9",
2547 "chromosome": "chr10",
2548 "position": 94981297,
2549 "dbSnpId": "rs56165452",
2550 "call": "T|T",
2551 "alleles": [
2552 "*4"
2553 ],
2554 "phased": true,
2555 "wildtypeAllele": "T",
2556 "mismatch": false
2557 },
2558 {
2559 "gene": "CYP2C9",
2560 "chromosome": "chr10",
2561 "position": 94981301,
2562 "dbSnpId": "rs28371686",
2563 "call": "C|C",
2564 "alleles": [
2565 "*5"
2566 ],
2567 "phased": true,
2568 "wildtypeAllele": "C",
2569 "mismatch": false
2570 },
2571 {
2572 "gene": "CYP2C9",
2573 "chromosome": "chr10",
2574 "position": 94981302,
2575 "dbSnpId": "rs1250577724",
2576 "call": "C|C",
2577 "alleles": [
2578 "*55"
2579 ],
2580 "phased": true,
2581 "wildtypeAllele": "C",
2582 "mismatch": false
2583 },
2584 {
2585 "gene": "CYP2C9",
2586 "chromosome": "chr10",
2587 "position": 94981305,
2588 "dbSnpId": "rs578144976",
2589 "call": "C|C",
2590 "alleles": [
2591 "*66"
2592 ],
2593 "phased": true,
2594 "wildtypeAllele": "C",
2595 "mismatch": false
2596 },
2597 {
2598 "gene": "CYP2C9",
2599 "chromosome": "chr10",
2600 "position": 94981365,
2601 "dbSnpId": null,
2602 "call": "C|C",
2603 "alleles": [
2604 "*17"
2605 ],
2606 "phased": true,
2607 "wildtypeAllele": "C",
2608 "mismatch": false
2609 },
2610 {
2611 "gene": "CYP2C9",
2612 "chromosome": "chr10",
2613 "position": 94981371,
2614 "dbSnpId": "rs542577750",
2615 "call": "G|G",
2616 "alleles": [
2617 "*68"
2618 ],
2619 "phased": true,
2620 "wildtypeAllele": "G",
2621 "mismatch": false
2622 },
2623 {
2624 "gene": "CYP2C9",
2625 "chromosome": "chr10",
2626 "position": 94986042,
2627 "dbSnpId": "rs764211126",
2628 "call": "A|A",
2629 "alleles": [
2630 "*56"
2631 ],
2632 "phased": true,
2633 "wildtypeAllele": "A",
2634 "mismatch": false
2635 },
2636 {
2637 "gene": "CYP2C9",
2638 "chromosome": "chr10",
2639 "position": 94986073,
2640 "dbSnpId": "rs72558193",
2641 "call": "A|A",
2642 "alleles": [
2643 "*18"
2644 ],
2645 "phased": true,
2646 "wildtypeAllele": "A",
2647 "mismatch": false
2648 },
2649 {
2650 "gene": "CYP2C9",
2651 "chromosome": "chr10",
2652 "position": 94988852,
2653 "dbSnpId": "rs776908257",
2654 "call": "C|C",
2655 "alleles": [
2656 "*67"
2657 ],
2658 "phased": true,
2659 "wildtypeAllele": "C",
2660 "mismatch": false
2661 },
2662 {
2663 "gene": "CYP2C9",
2664 "chromosome": "chr10",
2665 "position": 94988855,
2666 "dbSnpId": null,
2667 "call": "A|A",
2668 "alleles": [
2669 "*59"
2670 ],
2671 "phased": true,
2672 "wildtypeAllele": "A",
2673 "mismatch": false
2674 },
2675 {
2676 "gene": "CYP2C9",
2677 "chromosome": "chr10",
2678 "position": 94988880,
2679 "dbSnpId": null,
2680 "call": "G|G",
2681 "alleles": [
2682 "*70"
2683 ],
2684 "phased": true,
2685 "wildtypeAllele": "G",
2686 "mismatch": false
2687 },
2688 {
2689 "gene": "CYP2C9",
2690 "chromosome": "chr10",
2691 "position": 94988917,
2692 "dbSnpId": "rs769942899",
2693 "call": "G|G",
2694 "alleles": [
2695 "*19"
2696 ],
2697 "phased": true,
2698 "wildtypeAllele": "G",
2699 "mismatch": false
2700 },
2701 {
2702 "gene": "CYP2C9",
2703 "chromosome": "chr10",
2704 "position": 94988925,
2705 "dbSnpId": "rs202201137",
2706 "call": "A|A",
2707 "alleles": [
2708 "*61"
2709 ],
2710 "phased": true,
2711 "wildtypeAllele": "A",
2712 "mismatch": false
2713 },
2714 {
2715 "gene": "CYP2C9",
2716 "chromosome": "chr10",
2717 "position": 94988955,
2718 "dbSnpId": "rs767284820",
2719 "call": "T|T",
2720 "alleles": [
2721 "*60"
2722 ],
2723 "phased": true,
2724 "wildtypeAllele": "T",
2725 "mismatch": false
2726 },
2727 {
2728 "gene": "CYP2C9",
2729 "chromosome": "chr10",
2730 "position": 94988984,
2731 "dbSnpId": "rs781583846",
2732 "call": "G|G",
2733 "alleles": [
2734 "*30"
2735 ],
2736 "phased": true,
2737 "wildtypeAllele": "G",
2738 "mismatch": false
2739 },
2740 {
2741 "gene": "CYP2C9",
2742 "chromosome": "chr10",
2743 "position": 94989020,
2744 "dbSnpId": "rs9332239",
2745 "call": "C|C",
2746 "alleles": [
2747 "*12",
2748 "*71"
2749 ],
2750 "phased": true,
2751 "wildtypeAllele": "C",
2752 "mismatch": false
2753 },
2754 {
2755 "gene": "CYP2C9",
2756 "chromosome": "chr10",
2757 "position": 94989023,
2758 "dbSnpId": "rs868182778",
2759 "call": "G|G",
2760 "alleles": [
2761 "*32"
2762 ],
2763 "phased": true,
2764 "wildtypeAllele": "G",
2765 "mismatch": false
2766 },
2767 {
2768 "gene": "CYP2C9",
2769 "chromosome": "chr10",
2770 "position": 94942306,
2771 "dbSnpId": "rs1289704600",
2772 "call": null,
2773 "alleles": [
2774 "*72"
2775 ],
2776 "phased": false,
2777 "wildtypeAllele": "C",
2778 "mismatch": false
2779 },
2780 {
2781 "gene": "CYP2C9",
2782 "chromosome": "chr10",
2783 "position": 94942308,
2784 "dbSnpId": "rs17847037",
2785 "call": null,
2786 "alleles": [
2787 "*73"
2788 ],
2789 "phased": false,
2790 "wildtypeAllele": "C",
2791 "mismatch": false
2792 },
2793 {
2794 "gene": "CYP2C9",
2795 "chromosome": "chr10",
2796 "position": 94947439,
2797 "dbSnpId": null,
2798 "call": null,
2799 "alleles": [
2800 "*74"
2801 ],
2802 "phased": false,
2803 "wildtypeAllele": "G",
2804 "mismatch": false
2805 },
2806 {
2807 "gene": "CYP2C9",
2808 "chromosome": "chr10",
2809 "position": 94986136,
2810 "dbSnpId": "rs1254213342",
2811 "call": null,
2812 "alleles": [
2813 "*75"
2814 ],
2815 "phased": false,
2816 "wildtypeAllele": "A",
2817 "mismatch": false
2818 }
2819 ],
2820 "variantsOfInterest": [
2821 {
2822 "gene": "CYP2C9",
2823 "chromosome": "chr10",
2824 "position": 94645745,
2825 "dbSnpId": "rs12777823",
2826 "call": "G|G",
2827 "alleles": [],
2828 "phased": true,
2829 "wildtypeAllele": null,
2830 "mismatch": false
2831 }
2832 ],
2833 "highlightedVariants": []
2834 },
2835 {
2836 "geneSymbol": "CYP2D6",
2837 "chr": null,
2838 "phased": false,
2839 "callSource": "OUTSIDE",
2840 "uncalledHaplotypes": [],
2841 "messages": [
2842 {
2843 "rule_name": "CYP2D6 warning",
2844 "version": "1",
2845 "matches": {
2846 "gene": "CYP2D6",
2847 "hapsCalled": [],
2848 "hapsMissing": [],
2849 "variantsMissing": [],
2850 "variant": "",
2851 "dips": [],
2852 "drugs": []
2853 },
2854 "exception_type": "note",
2855 "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."
2856 }
2857 ],
2858 "relatedDrugs": [
2859 {
2860 "name": "amitriptyline",
2861 "guidelineId": "RxNorm:704"
2862 },
2863 {
2864 "name": "atomoxetine",
2865 "guidelineId": "RxNorm:38400"
2866 },
2867 {
2868 "name": "clomipramine",
2869 "guidelineId": "RxNorm:2597"
2870 },
2871 {
2872 "name": "codeine",
2873 "guidelineId": "RxNorm:2670"
2874 },
2875 {
2876 "name": "desipramine",
2877 "guidelineId": "RxNorm:3247"
2878 },
2879 {
2880 "name": "doxepin",
2881 "guidelineId": "RxNorm:3638"
2882 },
2883 {
2884 "name": "fluvoxamine",
2885 "guidelineId": "RxNorm:42355"
2886 },
2887 {
2888 "name": "hydrocodone",
2889 "guidelineId": "RxNorm:5489"
2890 },
2891 {
2892 "name": "imipramine",
2893 "guidelineId": "RxNorm:5691"
2894 },
2895 {
2896 "name": "nortriptyline",
2897 "guidelineId": "RxNorm:7531"
2898 },
2899 {
2900 "name": "ondansetron",
2901 "guidelineId": "RxNorm:26225"
2902 },
2903 {
2904 "name": "paroxetine",
2905 "guidelineId": "RxNorm:32937"
2906 },
2907 {
2908 "name": "tamoxifen",
2909 "guidelineId": "RxNorm:10324"
2910 },
2911 {
2912 "name": "tramadol",
2913 "guidelineId": "RxNorm:10689"
2914 },
2915 {
2916 "name": "trimipramine",
2917 "guidelineId": "RxNorm:10834"
2918 },
2919 {
2920 "name": "tropisetron",
2921 "guidelineId": "RxNorm:27392"
2922 }
2923 ],
2924 "matcherDiplotypes": [
2925 {
2926 "allele1": {
2927 "gene": "CYP2D6",
2928 "name": "*1",
2929 "function": "Normal function",
2930 "reference": true
2931 },
2932 "allele2": {
2933 "gene": "CYP2D6",
2934 "name": "*3",
2935 "function": "No function",
2936 "reference": false
2937 },
2938 "gene": "CYP2D6",
2939 "phenotype": "Intermediate Metabolizer",
2940 "variant": null,
2941 "lookupKey": "1",
2942 "label": "*1/*3"
2943 }
2944 ],
2945 "diplotypes": [
2946 {
2947 "allele1": {
2948 "gene": "CYP2D6",
2949 "name": "*1",
2950 "function": "Normal function",
2951 "reference": true
2952 },
2953 "allele2": {
2954 "gene": "CYP2D6",
2955 "name": "*3",
2956 "function": "No function",
2957 "reference": false
2958 },
2959 "gene": "CYP2D6",
2960 "phenotype": "Intermediate Metabolizer",
2961 "variant": null,
2962 "lookupKey": "1",
2963 "label": "*1/*3"
2964 }
2965 ],
2966 "variants": [],
2967 "variantsOfInterest": [],
2968 "highlightedVariants": []
2969 },
2970 {
2971 "geneSymbol": "CYP3A5",
2972 "chr": "chr7",
2973 "phased": true,
2974 "callSource": "MATCHER",
2975 "uncalledHaplotypes": [],
2976 "messages": [
2977 {
2978 "rule_name": "CYP3A5 reverse complement footnote",
2979 "version": "1",
2980 "matches": {
2981 "gene": "CYP3A5",
2982 "hapsCalled": [],
2983 "hapsMissing": [],
2984 "variantsMissing": [],
2985 "variant": "",
2986 "dips": [],
2987 "drugs": []
2988 },
2989 "exception_type": "footnote",
2990 "message": "The CYP3A5 gene is on the negative chromosomal strand, all genotype calls for CYP3A5 in this report refer to the positive chromosomal strand. Therefore, genotype calls are complemented from gene bases."
2991 }
2992 ],
2993 "relatedDrugs": [
2994 {
2995 "name": "tacrolimus",
2996 "guidelineId": "RxNorm:42316"
2997 }
2998 ],
2999 "matcherDiplotypes": [
3000 {
3001 "allele1": {
3002 "gene": "CYP3A5",
3003 "name": "*1",
3004 "function": "Normal function",
3005 "reference": true
3006 },
3007 "allele2": {
3008 "gene": "CYP3A5",
3009 "name": "*1",
3010 "function": "Normal function",
3011 "reference": true
3012 },
3013 "gene": "CYP3A5",
3014 "phenotype": "Normal Metabolizer",
3015 "variant": null,
3016 "lookupKey": "Normal Metabolizer",
3017 "label": "*1/*1"
3018 }
3019 ],
3020 "diplotypes": [
3021 {
3022 "allele1": {
3023 "gene": "CYP3A5",
3024 "name": "*1",
3025 "function": "Normal function",
3026 "reference": true
3027 },
3028 "allele2": {
3029 "gene": "CYP3A5",
3030 "name": "*1",
3031 "function": "Normal function",
3032 "reference": true
3033 },
3034 "gene": "CYP3A5",
3035 "phenotype": "Normal Metabolizer",
3036 "variant": null,
3037 "lookupKey": "Normal Metabolizer",
3038 "label": "*1/*1"
3039 }
3040 ],
3041 "variants": [
3042 {
3043 "gene": "CYP3A5",
3044 "chromosome": "chr7",
3045 "position": 99652613,
3046 "dbSnpId": "rs28365083",
3047 "call": "G|G",
3048 "alleles": [
3049 "*2",
3050 "*3"
3051 ],
3052 "phased": true,
3053 "wildtypeAllele": "G",
3054 "mismatch": false
3055 },
3056 {
3057 "gene": "CYP3A5",
3058 "chromosome": "chr7",
3059 "position": 99652770,
3060 "dbSnpId": "rs41303343",
3061 "call": "T|T",
3062 "alleles": [
3063 "*7"
3064 ],
3065 "phased": true,
3066 "wildtypeAllele": "T",
3067 "mismatch": false
3068 },
3069 {
3070 "gene": "CYP3A5",
3071 "chromosome": "chr7",
3072 "position": 99660516,
3073 "dbSnpId": "rs28383479",
3074 "call": "C|C",
3075 "alleles": [
3076 "*3",
3077 "*9"
3078 ],
3079 "phased": true,
3080 "wildtypeAllele": "C",
3081 "mismatch": false
3082 },
3083 {
3084 "gene": "CYP3A5",
3085 "chromosome": "chr7",
3086 "position": 99665212,
3087 "dbSnpId": "rs10264272",
3088 "call": "C|C",
3089 "alleles": [
3090 "*6"
3091 ],
3092 "phased": true,
3093 "wildtypeAllele": "C",
3094 "mismatch": false
3095 },
3096 {
3097 "gene": "CYP3A5",
3098 "chromosome": "chr7",
3099 "position": 99665237,
3100 "dbSnpId": "rs56411402",
3101 "call": "T|T",
3102 "alleles": [
3103 "*3",
3104 "*4"
3105 ],
3106 "phased": true,
3107 "wildtypeAllele": "T",
3108 "mismatch": false
3109 },
3110 {
3111 "gene": "CYP3A5",
3112 "chromosome": "chr7",
3113 "position": 99666950,
3114 "dbSnpId": "rs55965422",
3115 "call": "A|A",
3116 "alleles": [
3117 "*3",
3118 "*5"
3119 ],
3120 "phased": true,
3121 "wildtypeAllele": "A",
3122 "mismatch": false
3123 },
3124 {
3125 "gene": "CYP3A5",
3126 "chromosome": "chr7",
3127 "position": 99672916,
3128 "dbSnpId": "rs776746",
3129 "call": "T|T",
3130 "alleles": [
3131 "*3"
3132 ],
3133 "phased": true,
3134 "wildtypeAllele": "T",
3135 "mismatch": false
3136 },
3137 {
3138 "gene": "CYP3A5",
3139 "chromosome": "chr7",
3140 "position": 99676198,
3141 "dbSnpId": "rs55817950",
3142 "call": "G|G",
3143 "alleles": [
3144 "*8"
3145 ],
3146 "phased": true,
3147 "wildtypeAllele": "G",
3148 "mismatch": false
3149 }
3150 ],
3151 "variantsOfInterest": [],
3152 "highlightedVariants": []
3153 },
3154 {
3155 "geneSymbol": "CYP4F2",
3156 "chr": "chr19",
3157 "phased": true,
3158 "callSource": "MATCHER",
3159 "uncalledHaplotypes": [],
3160 "messages": [],
3161 "relatedDrugs": [
3162 {
3163 "name": "warfarin",
3164 "guidelineId": "RxNorm:11289"
3165 }
3166 ],
3167 "matcherDiplotypes": [
3168 {
3169 "allele1": {
3170 "gene": "CYP4F2",
3171 "name": "*1",
3172 "function": null,
3173 "reference": true
3174 },
3175 "allele2": {
3176 "gene": "CYP4F2",
3177 "name": "*1",
3178 "function": null,
3179 "reference": true
3180 },
3181 "gene": "CYP4F2",
3182 "phenotype": null,
3183 "variant": null,
3184 "lookupKey": null,
3185 "label": "*1/*1"
3186 }
3187 ],
3188 "diplotypes": [
3189 {
3190 "allele1": {
3191 "gene": "CYP4F2",
3192 "name": "*1",
3193 "function": null,
3194 "reference": true
3195 },
3196 "allele2": {
3197 "gene": "CYP4F2",
3198 "name": "*1",
3199 "function": null,
3200 "reference": true
3201 },
3202 "gene": "CYP4F2",
3203 "phenotype": null,
3204 "variant": null,
3205 "lookupKey": null,
3206 "label": "*1/*1"
3207 }
3208 ],
3209 "variants": [
3210 {
3211 "gene": "CYP4F2",
3212 "chromosome": "chr19",
3213 "position": 15879621,
3214 "dbSnpId": "rs2108622",
3215 "call": "C|C",
3216 "alleles": [
3217 "*3"
3218 ],
3219 "phased": true,
3220 "wildtypeAllele": "C",
3221 "mismatch": false
3222 },
3223 {
3224 "gene": "CYP4F2",
3225 "chromosome": "chr19",
3226 "position": 15897578,
3227 "dbSnpId": "rs3093105",
3228 "call": "A|A",
3229 "alleles": [
3230 "*2"
3231 ],
3232 "phased": true,
3233 "wildtypeAllele": "A",
3234 "mismatch": false
3235 }
3236 ],
3237 "variantsOfInterest": [],
3238 "highlightedVariants": []
3239 },
3240 {
3241 "geneSymbol": "DPYD",
3242 "chr": "chr1",
3243 "phased": true,
3244 "callSource": "MATCHER",
3245 "uncalledHaplotypes": [],
3246 "messages": [
3247 {
3248 "rule_name": "DPYD reverse complement footnote",
3249 "version": "1",
3250 "matches": {
3251 "gene": "DPYD",
3252 "hapsCalled": [],
3253 "hapsMissing": [],
3254 "variantsMissing": [],
3255 "variant": "",
3256 "dips": [],
3257 "drugs": []
3258 },
3259 "exception_type": "footnote",
3260 "message": "The DPYD gene is on the negative chromosomal strand, all genotype calls for DPYD in this report refer to the positive chromosomal strand. Therefore, genotype calls are complemented from gene bases."
3261 }
3262 ],
3263 "relatedDrugs": [
3264 {
3265 "name": "capecitabine",
3266 "guidelineId": "RxNorm:194000"
3267 },
3268 {
3269 "name": "fluorouracil",
3270 "guidelineId": "RxNorm:4492"
3271 }
3272 ],
3273 "matcherDiplotypes": [
3274 {
3275 "allele1": {
3276 "gene": "DPYD",
3277 "name": "Reference",
3278 "function": "Normal function",
3279 "reference": true
3280 },
3281 "allele2": {
3282 "gene": "DPYD",
3283 "name": "Reference",
3284 "function": "Normal function",
3285 "reference": true
3286 },
3287 "gene": "DPYD",
3288 "phenotype": "Normal Metabolizer",
3289 "variant": null,
3290 "lookupKey": "2",
3291 "label": "Reference/Reference"
3292 }
3293 ],
3294 "diplotypes": [
3295 {
3296 "allele1": {
3297 "gene": "DPYD",
3298 "name": "Reference",
3299 "function": "Normal function",
3300 "reference": true
3301 },
3302 "allele2": {
3303 "gene": "DPYD",
3304 "name": "Reference",
3305 "function": "Normal function",
3306 "reference": true
3307 },
3308 "gene": "DPYD",
3309 "phenotype": "Normal Metabolizer",
3310 "variant": null,
3311 "lookupKey": "2",
3312 "label": "Reference/Reference"
3313 }
3314 ],
3315 "variants": [
3316 {
3317 "gene": "DPYD",
3318 "chromosome": "chr1",
3319 "position": 97078987,
3320 "dbSnpId": "rs114096998",
3321 "call": "G|G",
3322 "alleles": [
3323 "c.3067C\u003eA"
3324 ],
3325 "phased": true,
3326 "wildtypeAllele": "G",
3327 "mismatch": false
3328 },
3329 {
3330 "gene": "DPYD",
3331 "chromosome": "chr1",
3332 "position": 97078993,
3333 "dbSnpId": "rs148799944",
3334 "call": "C|C",
3335 "alleles": [
3336 "c.3061G\u003eC"
3337 ],
3338 "phased": true,
3339 "wildtypeAllele": "C",
3340 "mismatch": false
3341 },
3342 {
3343 "gene": "DPYD",
3344 "chromosome": "chr1",
3345 "position": 97079005,
3346 "dbSnpId": "rs140114515",
3347 "call": "C|C",
3348 "alleles": [
3349 "c.3049G\u003eA"
3350 ],
3351 "phased": true,
3352 "wildtypeAllele": "C",
3353 "mismatch": false
3354 },
3355 {
3356 "gene": "DPYD",
3357 "chromosome": "chr1",
3358 "position": 97079071,
3359 "dbSnpId": "rs1801268",
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4120 "mismatch": false
4121 },
4122 {
4123 "gene": "DPYD",
4124 "chromosome": "chr1",
4125 "position": 97593343,
4126 "dbSnpId": "rs72549306",
4127 "call": "C|C",
4128 "alleles": [
4129 "c.1003G\u003eT (*11)"
4130 ],
4131 "phased": true,
4132 "wildtypeAllele": "C",
4133 "mismatch": false
4134 },
4135 {
4136 "gene": "DPYD",
4137 "chromosome": "chr1",
4138 "position": 97593379,
4139 "dbSnpId": "rs201018345",
4140 "call": "C|C",
4141 "alleles": [
4142 "c.967G\u003eA"
4143 ],
4144 "phased": true,
4145 "wildtypeAllele": "C",
4146 "mismatch": false
4147 },
4148 {
4149 "gene": "DPYD",
4150 "chromosome": "chr1",
4151 "position": 97595083,
4152 "dbSnpId": "rs145112791",
4153 "call": "G|G",
4154 "alleles": [
4155 "c.934C\u003eT"
4156 ],
4157 "phased": true,
4158 "wildtypeAllele": "G",
4159 "mismatch": false
4160 },
4161 {
4162 "gene": "DPYD",
4163 "chromosome": "chr1",
4164 "position": 97595088,
4165 "dbSnpId": "rs150437414",
4166 "call": "A|A",
4167 "alleles": [
4168 "c.929T\u003eC"
4169 ],
4170 "phased": true,
4171 "wildtypeAllele": "A",
4172 "mismatch": false
4173 },
4174 {
4175 "gene": "DPYD",
4176 "chromosome": "chr1",
4177 "position": 97595149,
4178 "dbSnpId": "rs146356975",
4179 "call": "T|T",
4180 "alleles": [
4181 "c.868A\u003eG"
4182 ],
4183 "phased": true,
4184 "wildtypeAllele": "T",
4185 "mismatch": false
4186 },
4187 {
4188 "gene": "DPYD",
4189 "chromosome": "chr1",
4190 "position": 97679170,
4191 "dbSnpId": "rs45589337",
4192 "call": "T|T",
4193 "alleles": [
4194 "c.775A\u003eG"
4195 ],
4196 "phased": true,
4197 "wildtypeAllele": "T",
4198 "mismatch": false
4199 },
4200 {
4201 "gene": "DPYD",
4202 "chromosome": "chr1",
4203 "position": 97691776,
4204 "dbSnpId": "rs1801266",
4205 "call": "G|G",
4206 "alleles": [
4207 "c.703C\u003eT (*8)"
4208 ],
4209 "phased": true,
4210 "wildtypeAllele": "G",
4211 "mismatch": false
4212 },
4213 {
4214 "gene": "DPYD",
4215 "chromosome": "chr1",
4216 "position": 97699399,
4217 "dbSnpId": "rs72549307",
4218 "call": "T|T",
4219 "alleles": [
4220 "c.632A\u003eG"
4221 ],
4222 "phased": true,
4223 "wildtypeAllele": "T",
4224 "mismatch": false
4225 },
4226 {
4227 "gene": "DPYD",
4228 "chromosome": "chr1",
4229 "position": 97699430,
4230 "dbSnpId": "rs72549308",
4231 "call": "T|T",
4232 "alleles": [
4233 "c.601A\u003eC"
4234 ],
4235 "phased": true,
4236 "wildtypeAllele": "T",
4237 "mismatch": false
4238 },
4239 {
4240 "gene": "DPYD",
4241 "chromosome": "chr1",
4242 "position": 97699474,
4243 "dbSnpId": "rs115232898",
4244 "call": "T|T",
4245 "alleles": [
4246 "c.557A\u003eG"
4247 ],
4248 "phased": true,
4249 "wildtypeAllele": "T",
4250 "mismatch": false
4251 },
4252 {
4253 "gene": "DPYD",
4254 "chromosome": "chr1",
4255 "position": 97699506,
4256 "dbSnpId": "rs6670886",
4257 "call": "C|C",
4258 "alleles": [
4259 "c.525G\u003eA"
4260 ],
4261 "phased": true,
4262 "wildtypeAllele": "C",
4263 "mismatch": false
4264 },
4265 {
4266 "gene": "DPYD",
4267 "chromosome": "chr1",
4268 "position": 97699533,
4269 "dbSnpId": "rs139834141",
4270 "call": "C|C",
4271 "alleles": [
4272 "c.498G\u003eA"
4273 ],
4274 "phased": true,
4275 "wildtypeAllele": "C",
4276 "mismatch": false
4277 },
4278 {
4279 "gene": "DPYD",
4280 "chromosome": "chr1",
4281 "position": 97699535,
4282 "dbSnpId": "rs2297595",
4283 "call": "T|T",
4284 "alleles": [
4285 "c.496A\u003eG"
4286 ],
4287 "phased": true,
4288 "wildtypeAllele": "T",
4289 "mismatch": false
4290 },
4291 {
4292 "gene": "DPYD",
4293 "chromosome": "chr1",
4294 "position": 97721542,
4295 "dbSnpId": "rs200562975",
4296 "call": "T|T",
4297 "alleles": [
4298 "c.451A\u003eG"
4299 ],
4300 "phased": true,
4301 "wildtypeAllele": "T",
4302 "mismatch": false
4303 },
4304 {
4305 "gene": "DPYD",
4306 "chromosome": "chr1",
4307 "position": 97721650,
4308 "dbSnpId": "rs141462178",
4309 "call": "T|T",
4310 "alleles": [
4311 "c.343A\u003eG"
4312 ],
4313 "phased": true,
4314 "wildtypeAllele": "T",
4315 "mismatch": false
4316 },
4317 {
4318 "gene": "DPYD",
4319 "chromosome": "chr1",
4320 "position": 97740400,
4321 "dbSnpId": "rs150385342",
4322 "call": "C|C",
4323 "alleles": [
4324 "c.313G\u003eA"
4325 ],
4326 "phased": true,
4327 "wildtypeAllele": "C",
4328 "mismatch": false
4329 },
4330 {
4331 "gene": "DPYD",
4332 "chromosome": "chr1",
4333 "position": 97740410,
4334 "dbSnpId": "rs72549309",
4335 "call": "GATGA|GATGA",
4336 "alleles": [
4337 "c.295_298delTCAT (*7)"
4338 ],
4339 "phased": true,
4340 "wildtypeAllele": "GATGA",
4341 "mismatch": false
4342 },
4343 {
4344 "gene": "DPYD",
4345 "chromosome": "chr1",
4346 "position": 97883329,
4347 "dbSnpId": "rs1801265",
4348 "call": "A|A",
4349 "alleles": [
4350 "c.85T\u003eC (*9A)"
4351 ],
4352 "phased": true,
4353 "wildtypeAllele": "A",
4354 "mismatch": false
4355 },
4356 {
4357 "gene": "DPYD",
4358 "chromosome": "chr1",
4359 "position": 97883352,
4360 "dbSnpId": "rs80081766",
4361 "call": "C|C",
4362 "alleles": [
4363 "c.62G\u003eA"
4364 ],
4365 "phased": true,
4366 "wildtypeAllele": "C",
4367 "mismatch": false
4368 },
4369 {
4370 "gene": "DPYD",
4371 "chromosome": "chr1",
4372 "position": 97883353,
4373 "dbSnpId": "rs72549310",
4374 "call": "G|G",
4375 "alleles": [
4376 "c.61C\u003eT"
4377 ],
4378 "phased": true,
4379 "wildtypeAllele": "G",
4380 "mismatch": false
4381 },
4382 {
4383 "gene": "DPYD",
4384 "chromosome": "chr1",
4385 "position": 97883368,
4386 "dbSnpId": "rs150036960",
4387 "call": "G|G",
4388 "alleles": [
4389 "c.46C\u003eG"
4390 ],
4391 "phased": true,
4392 "wildtypeAllele": "G",
4393 "mismatch": false
4394 }
4395 ],
4396 "variantsOfInterest": [],
4397 "highlightedVariants": []
4398 },
4399 {
4400 "geneSymbol": "G6PD",
4401 "chr": null,
4402 "phased": false,
4403 "callSource": "OUTSIDE",
4404 "uncalledHaplotypes": [],
4405 "messages": [],
4406 "relatedDrugs": [
4407 {
4408 "name": "rasburicase",
4409 "guidelineId": "RxNorm:283821"
4410 }
4411 ],
4412 "matcherDiplotypes": [
4413 {
4414 "allele1": {
4415 "gene": "G6PD",
4416 "name": "B (wildtype)",
4417 "function": "Normal function",
4418 "reference": true
4419 },
4420 "allele2": {
4421 "gene": "G6PD",
4422 "name": "B (wildtype)",
4423 "function": "Normal function",
4424 "reference": true
4425 },
4426 "gene": "G6PD",
4427 "phenotype": "Normal",
4428 "variant": null,
4429 "lookupKey": "Normal",
4430 "label": "B (wildtype)/B (wildtype)"
4431 }
4432 ],
4433 "diplotypes": [
4434 {
4435 "allele1": {
4436 "gene": "G6PD",
4437 "name": "B (wildtype)",
4438 "function": "Normal function",
4439 "reference": true
4440 },
4441 "allele2": {
4442 "gene": "G6PD",
4443 "name": "B (wildtype)",
4444 "function": "Normal function",
4445 "reference": true
4446 },
4447 "gene": "G6PD",
4448 "phenotype": "Normal",
4449 "variant": null,
4450 "lookupKey": "Normal",
4451 "label": "B (wildtype)/B (wildtype)"
4452 }
4453 ],
4454 "variants": [],
4455 "variantsOfInterest": [],
4456 "highlightedVariants": []
4457 },
4458 {
4459 "geneSymbol": "IFNL3",
4460 "chr": "chr19",
4461 "phased": true,
4462 "callSource": "MATCHER",
4463 "uncalledHaplotypes": [],
4464 "messages": [
4465 {
4466 "rule_name": "IFNL3 reverse complement footnote",
4467 "version": "1",
4468 "matches": {
4469 "gene": "IFNL3",
4470 "hapsCalled": [],
4471 "hapsMissing": [],
4472 "variantsMissing": [],
4473 "variant": "",
4474 "dips": [],
4475 "drugs": []
4476 },
4477 "exception_type": "footnote",
4478 "message": "The IFNL3 gene is on the negative chromosomal strand, all genotype calls for IFNL3 in this report refer to the positive chromosomal strand. Therefore, genotype calls are complemented from gene bases."
4479 }
4480 ],
4481 "relatedDrugs": [
4482 {
4483 "name": "peginterferon alfa-2a",
4484 "guidelineId": "RxNorm:120608"
4485 },
4486 {
4487 "name": "peginterferon alfa-2b",
4488 "guidelineId": "RxNorm:253453"
4489 }
4490 ],
4491 "matcherDiplotypes": [
4492 {
4493 "allele1": {
4494 "gene": "IFNL3",
4495 "name": "rs12979860 reference (C)",
4496 "function": null,
4497 "reference": true
4498 },
4499 "allele2": {
4500 "gene": "IFNL3",
4501 "name": "rs12979860 reference (C)",
4502 "function": null,
4503 "reference": true
4504 },
4505 "gene": "IFNL3",
4506 "phenotype": null,
4507 "variant": null,
4508 "lookupKey": null,
4509 "label": "rs12979860 reference (C)/rs12979860 reference (C)"
4510 }
4511 ],
4512 "diplotypes": [
4513 {
4514 "allele1": {
4515 "gene": "IFNL3",
4516 "name": "rs12979860 reference (C)",
4517 "function": null,
4518 "reference": true
4519 },
4520 "allele2": {
4521 "gene": "IFNL3",
4522 "name": "rs12979860 reference (C)",
4523 "function": null,
4524 "reference": true
4525 },
4526 "gene": "IFNL3",
4527 "phenotype": null,
4528 "variant": null,
4529 "lookupKey": null,
4530 "label": "rs12979860 reference (C)/rs12979860 reference (C)"
4531 }
4532 ],
4533 "variants": [
4534 {
4535 "gene": "IFNL3",
4536 "chromosome": "chr19",
4537 "position": 39248147,
4538 "dbSnpId": "rs12979860",
4539 "call": "C|C",
4540 "alleles": [
4541 "rs12979860 variant (T)"
4542 ],
4543 "phased": true,
4544 "wildtypeAllele": "C",
4545 "mismatch": false
4546 }
4547 ],
4548 "variantsOfInterest": [],
4549 "highlightedVariants": []
4550 },
4551 {
4552 "geneSymbol": "MT-RNR1",
4553 "chr": null,
4554 "phased": false,
4555 "callSource": "OUTSIDE",
4556 "uncalledHaplotypes": [],
4557 "messages": [],
4558 "relatedDrugs": [
4559 {
4560 "name": "amikacin",
4561 "guidelineId": "RxNorm:641"
4562 },
4563 {
4564 "name": "gentamicin",
4565 "guidelineId": "ATC:D06AX07"
4566 },
4567 {
4568 "name": "kanamycin",
4569 "guidelineId": "RxNorm:6099"
4570 },
4571 {
4572 "name": "paromomycin",
4573 "guidelineId": "RxNorm:7934"
4574 },
4575 {
4576 "name": "plazomicin",
4577 "guidelineId": "RxNorm:2049549"
4578 },
4579 {
4580 "name": "streptomycin",
4581 "guidelineId": "RxNorm:10109"
4582 },
4583 {
4584 "name": "tobramycin",
4585 "guidelineId": "RxNorm:10627"
4586 }
4587 ],
4588 "matcherDiplotypes": [
4589 {
4590 "allele1": {
4591 "gene": "MT-RNR1",
4592 "name": "1555A\u003eG",
4593 "function": "increased risk of aminoglycoside-induced hearing loss",
4594 "reference": false
4595 },
4596 "allele2": null,
4597 "gene": "MT-RNR1",
4598 "phenotype": "increased risk of aminoglycoside-induced hearing loss",
4599 "variant": null,
4600 "lookupKey": "increased risk of aminoglycoside-induced hearing loss",
4601 "label": "1555A\u003eG"
4602 }
4603 ],
4604 "diplotypes": [
4605 {
4606 "allele1": {
4607 "gene": "MT-RNR1",
4608 "name": "1555A\u003eG",
4609 "function": "increased risk of aminoglycoside-induced hearing loss",
4610 "reference": false
4611 },
4612 "allele2": null,
4613 "gene": "MT-RNR1",
4614 "phenotype": "increased risk of aminoglycoside-induced hearing loss",
4615 "variant": null,
4616 "lookupKey": "increased risk of aminoglycoside-induced hearing loss",
4617 "label": "1555A\u003eG"
4618 }
4619 ],
4620 "variants": [],
4621 "variantsOfInterest": [],
4622 "highlightedVariants": []
4623 },
4624 {
4625 "geneSymbol": "NUDT15",
4626 "chr": "chr13",
4627 "phased": true,
4628 "callSource": "MATCHER",
4629 "uncalledHaplotypes": [],
4630 "messages": [],
4631 "relatedDrugs": [
4632 {
4633 "name": "azathioprine",
4634 "guidelineId": "RxNorm:1256"
4635 },
4636 {
4637 "name": "mercaptopurine",
4638 "guidelineId": "RxNorm:103"
4639 },
4640 {
4641 "name": "thioguanine",
4642 "guidelineId": "RxNorm:10485"
4643 }
4644 ],
4645 "matcherDiplotypes": [
4646 {
4647 "allele1": {
4648 "gene": "NUDT15",
4649 "name": "*1",
4650 "function": "Normal Function",
4651 "reference": true
4652 },
4653 "allele2": {
4654 "gene": "NUDT15",
4655 "name": "*1",
4656 "function": "Normal Function",
4657 "reference": true
4658 },
4659 "gene": "NUDT15",
4660 "phenotype": "Normal Metabolizer",
4661 "variant": null,
4662 "lookupKey": "Normal Metabolizer",
4663 "label": "*1/*1"
4664 }
4665 ],
4666 "diplotypes": [
4667 {
4668 "allele1": {
4669 "gene": "NUDT15",
4670 "name": "*1",
4671 "function": "Normal Function",
4672 "reference": true
4673 },
4674 "allele2": {
4675 "gene": "NUDT15",
4676 "name": "*1",
4677 "function": "Normal Function",
4678 "reference": true
4679 },
4680 "gene": "NUDT15",
4681 "phenotype": "Normal Metabolizer",
4682 "variant": null,
4683 "lookupKey": "Normal Metabolizer",
4684 "label": "*1/*1"
4685 }
4686 ],
4687 "variants": [
4688 {
4689 "gene": "NUDT15",
4690 "chromosome": "chr13",
4691 "position": 48037748,
4692 "dbSnpId": "rs769369441",
4693 "call": "T|T",
4694 "alleles": [
4695 "*10"
4696 ],
4697 "phased": true,
4698 "wildtypeAllele": "T",
4699 "mismatch": false
4700 },
4701 {
4702 "gene": "NUDT15",
4703 "chromosome": "chr13",
4704 "position": 48037749,
4705 "dbSnpId": null,
4706 "call": "G|G",
4707 "alleles": [
4708 "*19"
4709 ],
4710 "phased": true,
4711 "wildtypeAllele": "G",
4712 "mismatch": false
4713 },
4714 {
4715 "gene": "NUDT15",
4716 "chromosome": "chr13",
4717 "position": 48037782,
4718 "dbSnpId": "rs746071566",
4719 "call": "AGGAGTC|AGGAGTC",
4720 "alleles": [
4721 "*2",
4722 "*6",
4723 "*9"
4724 ],
4725 "phased": true,
4726 "wildtypeAllele": "AGGAGTC",
4727 "mismatch": false
4728 },
4729 {
4730 "gene": "NUDT15",
4731 "chromosome": "chr13",
4732 "position": 48037798,
4733 "dbSnpId": "rs186364861",
4734 "call": "G|G",
4735 "alleles": [
4736 "*5"
4737 ],
4738 "phased": true,
4739 "wildtypeAllele": "G",
4740 "mismatch": false
4741 },
4742 {
4743 "gene": "NUDT15",
4744 "chromosome": "chr13",
4745 "position": 48037825,
4746 "dbSnpId": "rs777311140",
4747 "call": "C|C",
4748 "alleles": [
4749 "*14"
4750 ],
4751 "phased": true,
4752 "wildtypeAllele": "C",
4753 "mismatch": false
4754 },
4755 {
4756 "gene": "NUDT15",
4757 "chromosome": "chr13",
4758 "position": 48037834,
4759 "dbSnpId": "rs1202487323",
4760 "call": "C|C",
4761 "alleles": [
4762 "*16"
4763 ],
4764 "phased": true,
4765 "wildtypeAllele": "C",
4766 "mismatch": false
4767 },
4768 {
4769 "gene": "NUDT15",
4770 "chromosome": "chr13",
4771 "position": 48037847,
4772 "dbSnpId": "rs766023281",
4773 "call": "G|G",
4774 "alleles": [
4775 "*7"
4776 ],
4777 "phased": true,
4778 "wildtypeAllele": "G",
4779 "mismatch": false
4780 },
4781 {
4782 "gene": "NUDT15",
4783 "chromosome": "chr13",
4784 "position": 48037849,
4785 "dbSnpId": null,
4786 "call": "A|A",
4787 "alleles": [
4788 "*8"
4789 ],
4790 "phased": true,
4791 "wildtypeAllele": "A",
4792 "mismatch": false
4793 },
4794 {
4795 "gene": "NUDT15",
4796 "chromosome": "chr13",
4797 "position": 48037885,
4798 "dbSnpId": "rs1950545307",
4799 "call": "G|G",
4800 "alleles": [
4801 "*11"
4802 ],
4803 "phased": true,
4804 "wildtypeAllele": "G",
4805 "mismatch": false
4806 },
4807 {
4808 "gene": "NUDT15",
4809 "chromosome": "chr13",
4810 "position": 48037902,
4811 "dbSnpId": "rs149436418",
4812 "call": "C|C",
4813 "alleles": [
4814 "*12"
4815 ],
4816 "phased": true,
4817 "wildtypeAllele": "C",
4818 "mismatch": false
4819 },
4820 {
4821 "gene": "NUDT15",
4822 "chromosome": "chr13",
4823 "position": 48040977,
4824 "dbSnpId": "rs1457579126",
4825 "call": "GA|GA",
4826 "alleles": [
4827 "*18"
4828 ],
4829 "phased": true,
4830 "wildtypeAllele": "GA",
4831 "mismatch": false
4832 },
4833 {
4834 "gene": "NUDT15",
4835 "chromosome": "chr13",
4836 "position": 48041103,
4837 "dbSnpId": "rs761191455",
4838 "call": "T|T",
4839 "alleles": [
4840 "*13"
4841 ],
4842 "phased": true,
4843 "wildtypeAllele": "T",
4844 "mismatch": false
4845 },
4846 {
4847 "gene": "NUDT15",
4848 "chromosome": "chr13",
4849 "position": 48041113,
4850 "dbSnpId": "rs1368252918",
4851 "call": "G|G",
4852 "alleles": [
4853 "*17"
4854 ],
4855 "phased": true,
4856 "wildtypeAllele": "G",
4857 "mismatch": false
4858 },
4859 {
4860 "gene": "NUDT15",
4861 "chromosome": "chr13",
4862 "position": 48045690,
4863 "dbSnpId": "rs768324690",
4864 "call": "C|C",
4865 "alleles": [
4866 "*20"
4867 ],
4868 "phased": true,
4869 "wildtypeAllele": "C",
4870 "mismatch": false
4871 },
4872 {
4873 "gene": "NUDT15",
4874 "chromosome": "chr13",
4875 "position": 48045719,
4876 "dbSnpId": "rs116855232",
4877 "call": "C|C",
4878 "alleles": [
4879 "*2",
4880 "*3"
4881 ],
4882 "phased": true,
4883 "wildtypeAllele": "C",
4884 "mismatch": false
4885 },
4886 {
4887 "gene": "NUDT15",
4888 "chromosome": "chr13",
4889 "position": 48045720,
4890 "dbSnpId": "rs147390019",
4891 "call": "G|G",
4892 "alleles": [
4893 "*4"
4894 ],
4895 "phased": true,
4896 "wildtypeAllele": "G",
4897 "mismatch": false
4898 },
4899 {
4900 "gene": "NUDT15",
4901 "chromosome": "chr13",
4902 "position": 48045771,
4903 "dbSnpId": "rs139551410",
4904 "call": "T|T",
4905 "alleles": [
4906 "*15"
4907 ],
4908 "phased": true,
4909 "wildtypeAllele": "T",
4910 "mismatch": false
4911 }
4912 ],
4913 "variantsOfInterest": [],
4914 "highlightedVariants": []
4915 },
4916 {
4917 "geneSymbol": "RYR1",
4918 "chr": "chr19",
4919 "phased": true,
4920 "callSource": "MATCHER",
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4930 "guidelineId": "RxNorm:3920"
4931 },
4932 {
4933 "name": "halothane",
4934 "guidelineId": "RxNorm:5095"
4935 },
4936 {
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4939 },
4940 {
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4942 "guidelineId": "RxNorm:6857"
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4946 "guidelineId": "RxNorm:36453"
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4948 {
4949 "name": "succinylcholine",
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4953 "matcherDiplotypes": [
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4974 "diplotypes": [
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5083 "c.1021G\u003eC"
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5093 "dbSnpId": "rs193922764",
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5119 "dbSnpId": "rs118192162",
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5315 "dbSnpId": "rs193922807",
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5319 ],
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5360 "wildtypeAllele": "G",
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5380 "dbSnpId": "rs193922816",
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5412 "wildtypeAllele": "C",
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5419 "dbSnpId": "rs121918594",
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5425 "wildtypeAllele": "G",
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5432 "dbSnpId": "rs118192178",
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5436 "c.7522C\u003eT"
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5439 "wildtypeAllele": "C",
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5460 "call": "G|G",
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5465 "wildtypeAllele": "G",
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5493 },
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5502 ],
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5517 "wildtypeAllele": "C",
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5519 },
5520 {
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5524 "dbSnpId": "rs193922878",
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5530 "wildtypeAllele": "C",
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5532 },
5533 {
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5537 "dbSnpId": "rs118192168",
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5543 "wildtypeAllele": "G",
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5545 },
5546 {
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5550 "dbSnpId": "rs63749869",
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5554 ],
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5556 "wildtypeAllele": "G",
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5558 },
5559 {
5560 "gene": "RYR1",
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5563 "dbSnpId": "rs118192170",
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5567 ],
5568 "phased": true,
5569 "wildtypeAllele": "T",
5570 "mismatch": false
5571 }
5572 ],
5573 "variantsOfInterest": [],
5574 "highlightedVariants": []
5575 },
5576 {
5577 "geneSymbol": "SLCO1B1",
5578 "chr": "chr12",
5579 "phased": true,
5580 "callSource": "MATCHER",
5581 "uncalledHaplotypes": [
5582 "*38",
5583 "*41",
5584 "*45"
5585 ],
5586 "messages": [],
5587 "relatedDrugs": [
5588 {
5589 "name": "simvastatin",
5590 "guidelineId": "RxNorm:36567"
5591 }
5592 ],
5593 "matcherDiplotypes": [
5594 {
5595 "allele1": {
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5597 "name": "*1",
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5599 "reference": true
5600 },
5601 "allele2": {
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5610 "lookupKey": "Normal function",
5611 "label": "*1/*1"
5612 }
5613 ],
5614 "diplotypes": [
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5621 },
5622 "allele2": {
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5624 "name": "*1",
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5627 },
5628 "gene": "SLCO1B1",
5629 "phenotype": "Normal function",
5630 "variant": null,
5631 "lookupKey": "Normal function",
5632 "label": "*1/*1"
5633 }
5634 ],
5635 "variants": [
5636 {
5637 "gene": "SLCO1B1",
5638 "chromosome": "chr12",
5639 "position": 21172734,
5640 "dbSnpId": "rs139257324",
5641 "call": "C|C",
5642 "alleles": [
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5644 ],
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5646 "wildtypeAllele": "C",
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5648 },
5649 {
5650 "gene": "SLCO1B1",
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5653 "dbSnpId": "rs373327528",
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5655 "alleles": [
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5657 ],
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5659 "wildtypeAllele": "G",
5660 "mismatch": false
5661 },
5662 {
5663 "gene": "SLCO1B1",
5664 "chromosome": "chr12",
5665 "position": 21172782,
5666 "dbSnpId": "rs56101265",
5667 "call": "T|T",
5668 "alleles": [
5669 "*2",
5670 "*12"
5671 ],
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5673 "wildtypeAllele": "T",
5674 "mismatch": false
5675 },
5676 {
5677 "gene": "SLCO1B1",
5678 "chromosome": "chr12",
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5680 "dbSnpId": "rs56061388",
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5682 "alleles": [
5683 "*3",
5684 "*13"
5685 ],
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5687 "wildtypeAllele": "T",
5688 "mismatch": false
5689 },
5690 {
5691 "gene": "SLCO1B1",
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5694 "dbSnpId": "rs2306283",
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5696 "alleles": [
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5698 "*15",
5699 "*20",
5700 "*24",
5701 "*25",
5702 "*27",
5703 "*28",
5704 "*29",
5705 "*30",
5706 "*31",
5707 "*32",
5708 "*33",
5709 "*37",
5710 "*39",
5711 "*42",
5712 "*43",
5713 "*44",
5714 "*46",
5715 "*47"
5716 ],
5717 "phased": true,
5718 "wildtypeAllele": "A",
5719 "mismatch": false
5720 },
5721 {
5722 "gene": "SLCO1B1",
5723 "chromosome": "chr12",
5724 "position": 21176868,
5725 "dbSnpId": "rs2306282",
5726 "call": "A|A",
5727 "alleles": [
5728 "*16"
5729 ],
5730 "phased": true,
5731 "wildtypeAllele": "A",
5732 "mismatch": false
5733 },
5734 {
5735 "gene": "SLCO1B1",
5736 "chromosome": "chr12",
5737 "position": 21176879,
5738 "dbSnpId": "rs11045819",
5739 "call": "C|C",
5740 "alleles": [
5741 "*4",
5742 "*14",
5743 "*25",
5744 "*32",
5745 "*43"
5746 ],
5747 "phased": true,
5748 "wildtypeAllele": "C",
5749 "mismatch": false
5750 },
5751 {
5752 "gene": "SLCO1B1",
5753 "chromosome": "chr12",
5754 "position": 21176883,
5755 "dbSnpId": "rs72559745",
5756 "call": "A|A",
5757 "alleles": [
5758 "*3",
5759 "*13"
5760 ],
5761 "phased": true,
5762 "wildtypeAllele": "A",
5763 "mismatch": false
5764 },
5765 {
5766 "gene": "SLCO1B1",
5767 "chromosome": "chr12",
5768 "position": 21178615,
5769 "dbSnpId": "rs4149056",
5770 "call": "T|T",
5771 "alleles": [
5772 "*5",
5773 "*15",
5774 "*40",
5775 "*46",
5776 "*47"
5777 ],
5778 "phased": true,
5779 "wildtypeAllele": "T",
5780 "mismatch": false
5781 },
5782 {
5783 "gene": "SLCO1B1",
5784 "chromosome": "chr12",
5785 "position": 21178957,
5786 "dbSnpId": "rs79135870",
5787 "call": "A|A",
5788 "alleles": [
5789 "*30"
5790 ],
5791 "phased": true,
5792 "wildtypeAllele": "A",
5793 "mismatch": false
5794 },
5795 {
5796 "gene": "SLCO1B1",
5797 "chromosome": "chr12",
5798 "position": 21196951,
5799 "dbSnpId": "rs11045852",
5800 "call": "A|A",
5801 "alleles": [
5802 "*24",
5803 "*25",
5804 "*28",
5805 "*32",
5806 "*33",
5807 "*43",
5808 "*44"
5809 ],
5810 "phased": true,
5811 "wildtypeAllele": "A",
5812 "mismatch": false
5813 },
5814 {
5815 "gene": "SLCO1B1",
5816 "chromosome": "chr12",
5817 "position": 21196976,
5818 "dbSnpId": "rs11045853",
5819 "call": "G|G",
5820 "alleles": [
5821 "*25",
5822 "*28",
5823 "*33"
5824 ],
5825 "phased": true,
5826 "wildtypeAllele": "G",
5827 "mismatch": false
5828 },
5829 {
5830 "gene": "SLCO1B1",
5831 "chromosome": "chr12",
5832 "position": 21200595,
5833 "dbSnpId": "rs55901008",
5834 "call": "T|T",
5835 "alleles": [
5836 "*6"
5837 ],
5838 "phased": true,
5839 "wildtypeAllele": "T",
5840 "mismatch": false
5841 },
5842 {
5843 "gene": "SLCO1B1",
5844 "chromosome": "chr12",
5845 "position": 21202553,
5846 "dbSnpId": "rs1228465562",
5847 "call": "T|T",
5848 "alleles": [
5849 "*36"
5850 ],
5851 "phased": true,
5852 "wildtypeAllele": "T",
5853 "mismatch": false
5854 },
5855 {
5856 "gene": "SLCO1B1",
5857 "chromosome": "chr12",
5858 "position": 21202555,
5859 "dbSnpId": "rs59113707",
5860 "call": "C|C",
5861 "alleles": [
5862 "*27"
5863 ],
5864 "phased": true,
5865 "wildtypeAllele": "C",
5866 "mismatch": false
5867 },
5868 {
5869 "gene": "SLCO1B1",
5870 "chromosome": "chr12",
5871 "position": 21202649,
5872 "dbSnpId": "rs56387224",
5873 "call": "A|A",
5874 "alleles": [
5875 "*7"
5876 ],
5877 "phased": true,
5878 "wildtypeAllele": "A",
5879 "mismatch": false
5880 },
5881 {
5882 "gene": "SLCO1B1",
5883 "chromosome": "chr12",
5884 "position": 21202664,
5885 "dbSnpId": "rs142965323",
5886 "call": "G|G",
5887 "alleles": [
5888 "*26"
5889 ],
5890 "phased": true,
5891 "wildtypeAllele": "G",
5892 "mismatch": false
5893 },
5894 {
5895 "gene": "SLCO1B1",
5896 "chromosome": "chr12",
5897 "position": 21205921,
5898 "dbSnpId": "rs72559748",
5899 "call": "A|A",
5900 "alleles": [
5901 "*8"
5902 ],
5903 "phased": true,
5904 "wildtypeAllele": "A",
5905 "mismatch": false
5906 },
5907 {
5908 "gene": "SLCO1B1",
5909 "chromosome": "chr12",
5910 "position": 21205999,
5911 "dbSnpId": "rs59502379",
5912 "call": "G|G",
5913 "alleles": [
5914 "*9",
5915 "*31"
5916 ],
5917 "phased": true,
5918 "wildtypeAllele": "G",
5919 "mismatch": false
5920 },
5921 {
5922 "gene": "SLCO1B1",
5923 "chromosome": "chr12",
5924 "position": 21239042,
5925 "dbSnpId": "rs34671512",
5926 "call": "A|A",
5927 "alleles": [
5928 "*19",
5929 "*20",
5930 "*40"
5931 ],
5932 "phased": true,
5933 "wildtypeAllele": "A",
5934 "mismatch": false
5935 },
5936 {
5937 "gene": "SLCO1B1",
5938 "chromosome": "chr12",
5939 "position": 21239077,
5940 "dbSnpId": "rs56199088",
5941 "call": "A|A",
5942 "alleles": [
5943 "*10",
5944 "*12"
5945 ],
5946 "phased": true,
5947 "wildtypeAllele": "A",
5948 "mismatch": false
5949 },
5950 {
5951 "gene": "SLCO1B1",
5952 "chromosome": "chr12",
5953 "position": 21239113,
5954 "dbSnpId": "rs55737008",
5955 "call": "A|A",
5956 "alleles": [
5957 "*11",
5958 "*13"
5959 ],
5960 "phased": true,
5961 "wildtypeAllele": "A",
5962 "mismatch": false
5963 },
5964 {
5965 "gene": "SLCO1B1",
5966 "chromosome": "chr12",
5967 "position": 21239145,
5968 "dbSnpId": "rs200995543",
5969 "call": "C|C",
5970 "alleles": [
5971 "*34"
5972 ],
5973 "phased": true,
5974 "wildtypeAllele": "C",
5975 "mismatch": false
5976 },
5977 {
5978 "gene": "SLCO1B1",
5979 "chromosome": "chr12",
5980 "position": 21239158,
5981 "dbSnpId": "rs140790673",
5982 "call": "C|C",
5983 "alleles": [
5984 "*29"
5985 ],
5986 "phased": true,
5987 "wildtypeAllele": "C",
5988 "mismatch": false
5989 },
5990 {
5991 "gene": "SLCO1B1",
5992 "chromosome": "chr12",
5993 "position": 21176871,
5994 "dbSnpId": null,
5995 "call": null,
5996 "alleles": [
5997 "*38"
5998 ],
5999 "phased": false,
6000 "wildtypeAllele": "G",
6001 "mismatch": false
6002 },
6003 {
6004 "gene": "SLCO1B1",
6005 "chromosome": "chr12",
6006 "position": 21176898,
6007 "dbSnpId": "rs77271279",
6008 "call": null,
6009 "alleles": [
6010 "*41"
6011 ],
6012 "phased": false,
6013 "wildtypeAllele": "G",
6014 "mismatch": false
6015 },
6016 {
6017 "gene": "SLCO1B1",
6018 "chromosome": "chr12",
6019 "position": 21178612,
6020 "dbSnpId": "rs141467543",
6021 "call": null,
6022 "alleles": [
6023 "*42"
6024 ],
6025 "phased": false,
6026 "wildtypeAllele": "A",
6027 "mismatch": false
6028 },
6029 {
6030 "gene": "SLCO1B1",
6031 "chromosome": "chr12",
6032 "position": 21196975,
6033 "dbSnpId": "rs183501729",
6034 "call": null,
6035 "alleles": [
6036 "*39"
6037 ],
6038 "phased": false,
6039 "wildtypeAllele": "C",
6040 "mismatch": false
6041 },
6042 {
6043 "gene": "SLCO1B1",
6044 "chromosome": "chr12",
6045 "position": 21200544,
6046 "dbSnpId": "rs72559747",
6047 "call": null,
6048 "alleles": [
6049 "*47"
6050 ],
6051 "phased": false,
6052 "wildtypeAllele": "C",
6053 "mismatch": false
6054 },
6055 {
6056 "gene": "SLCO1B1",
6057 "chromosome": "chr12",
6058 "position": 21206031,
6059 "dbSnpId": "rs74064213",
6060 "call": null,
6061 "alleles": [
6062 "*43",
6063 "*44"
6064 ],
6065 "phased": false,
6066 "wildtypeAllele": "A",
6067 "mismatch": false
6068 },
6069 {
6070 "gene": "SLCO1B1",
6071 "chromosome": "chr12",
6072 "position": 21222355,
6073 "dbSnpId": "rs71581941",
6074 "call": null,
6075 "alleles": [
6076 "*45",
6077 "*46"
6078 ],
6079 "phased": false,
6080 "wildtypeAllele": "C",
6081 "mismatch": false
6082 }
6083 ],
6084 "variantsOfInterest": [],
6085 "highlightedVariants": [
6086 "rs4149056T/rs4149056T"
6087 ]
6088 },
6089 {
6090 "geneSymbol": "TPMT",
6091 "chr": "chr6",
6092 "phased": true,
6093 "callSource": "MATCHER",
6094 "uncalledHaplotypes": [],
6095 "messages": [
6096 {
6097 "rule_name": "TPMT reverse complement footnote",
6098 "version": "1",
6099 "matches": {
6100 "gene": "TPMT",
6101 "hapsCalled": [],
6102 "hapsMissing": [],
6103 "variantsMissing": [],
6104 "variant": "",
6105 "dips": [],
6106 "drugs": []
6107 },
6108 "exception_type": "footnote",
6109 "message": "The TPMT gene is on the negative chromosomal strand, all genotype calls for TPMT in this report refer to the positive chromosomal strand. Therefore, genotype calls are complemented from gene bases."
6110 }
6111 ],
6112 "relatedDrugs": [
6113 {
6114 "name": "azathioprine",
6115 "guidelineId": "RxNorm:1256"
6116 },
6117 {
6118 "name": "mercaptopurine",
6119 "guidelineId": "RxNorm:103"
6120 },
6121 {
6122 "name": "thioguanine",
6123 "guidelineId": "RxNorm:10485"
6124 }
6125 ],
6126 "matcherDiplotypes": [
6127 {
6128 "allele1": {
6129 "gene": "TPMT",
6130 "name": "*1",
6131 "function": "Normal Function",
6132 "reference": true
6133 },
6134 "allele2": {
6135 "gene": "TPMT",
6136 "name": "*1",
6137 "function": "Normal Function",
6138 "reference": true
6139 },
6140 "gene": "TPMT",
6141 "phenotype": "Normal Metabolizer",
6142 "variant": null,
6143 "lookupKey": "Normal Metabolizer",
6144 "label": "*1/*1"
6145 }
6146 ],
6147 "diplotypes": [
6148 {
6149 "allele1": {
6150 "gene": "TPMT",
6151 "name": "*1",
6152 "function": "Normal Function",
6153 "reference": true
6154 },
6155 "allele2": {
6156 "gene": "TPMT",
6157 "name": "*1",
6158 "function": "Normal Function",
6159 "reference": true
6160 },
6161 "gene": "TPMT",
6162 "phenotype": "Normal Metabolizer",
6163 "variant": null,
6164 "lookupKey": "Normal Metabolizer",
6165 "label": "*1/*1"
6166 }
6167 ],
6168 "variants": [
6169 {
6170 "gene": "TPMT",
6171 "chromosome": "chr6",
6172 "position": 18130687,
6173 "dbSnpId": "rs1142345",
6174 "call": "T|T",
6175 "alleles": [
6176 "*3A",
6177 "*3C",
6178 "*41"
6179 ],
6180 "phased": true,
6181 "wildtypeAllele": "T",
6182 "mismatch": false
6183 },
6184 {
6185 "gene": "TPMT",
6186 "chromosome": "chr6",
6187 "position": 18130694,
6188 "dbSnpId": "rs150900439",
6189 "call": "T|T",
6190 "alleles": [
6191 "*20"
6192 ],
6193 "phased": true,
6194 "wildtypeAllele": "T",
6195 "mismatch": false
6196 },
6197 {
6198 "gene": "TPMT",
6199 "chromosome": "chr6",
6200 "position": 18130725,
6201 "dbSnpId": "rs72552736",
6202 "call": "A|A",
6203 "alleles": [
6204 "*7"
6205 ],
6206 "phased": true,
6207 "wildtypeAllele": "A",
6208 "mismatch": false
6209 },
6210 {
6211 "gene": "TPMT",
6212 "chromosome": "chr6",
6213 "position": 18130729,
6214 "dbSnpId": "rs139392616",
6215 "call": "C|C",
6216 "alleles": [
6217 "*40"
6218 ],
6219 "phased": true,
6220 "wildtypeAllele": "C",
6221 "mismatch": false
6222 },
6223 {
6224 "gene": "TPMT",
6225 "chromosome": "chr6",
6226 "position": 18130758,
6227 "dbSnpId": "rs398122996",
6228 "call": "A|A",
6229 "alleles": [
6230 "*37"
6231 ],
6232 "phased": true,
6233 "wildtypeAllele": "A",
6234 "mismatch": false
6235 },
6236 {
6237 "gene": "TPMT",
6238 "chromosome": "chr6",
6239 "position": 18130762,
6240 "dbSnpId": "rs56161402",
6241 "call": "C|C",
6242 "alleles": [
6243 "*8"
6244 ],
6245 "phased": true,
6246 "wildtypeAllele": "C",
6247 "mismatch": false
6248 },
6249 {
6250 "gene": "TPMT",
6251 "chromosome": "chr6",
6252 "position": 18130772,
6253 "dbSnpId": "rs377085266",
6254 "call": "A|A",
6255 "alleles": [
6256 "*25"
6257 ],
6258 "phased": true,
6259 "wildtypeAllele": "A",
6260 "mismatch": false
6261 },
6262 {
6263 "gene": "TPMT",
6264 "chromosome": "chr6",
6265 "position": 18130781,
6266 "dbSnpId": "rs1800584",
6267 "call": "C|C",
6268 "alleles": [
6269 "*4"
6270 ],
6271 "phased": true,
6272 "wildtypeAllele": "C",
6273 "mismatch": false
6274 },
6275 {
6276 "gene": "TPMT",
6277 "chromosome": "chr6",
6278 "position": 18132136,
6279 "dbSnpId": "rs72556347",
6280 "call": "A|A",
6281 "alleles": [
6282 "*26"
6283 ],
6284 "phased": true,
6285 "wildtypeAllele": "A",
6286 "mismatch": false
6287 },
6288 {
6289 "gene": "TPMT",
6290 "chromosome": "chr6",
6291 "position": 18132147,
6292 "dbSnpId": "rs79901429",
6293 "call": "A|A",
6294 "alleles": [
6295 "*31"
6296 ],
6297 "phased": true,
6298 "wildtypeAllele": "A",
6299 "mismatch": false
6300 },
6301 {
6302 "gene": "TPMT",
6303 "chromosome": "chr6",
6304 "position": 18132163,
6305 "dbSnpId": null,
6306 "call": "C|C",
6307 "alleles": [
6308 "*36"
6309 ],
6310 "phased": true,
6311 "wildtypeAllele": "C",
6312 "mismatch": false
6313 },
6314 {
6315 "gene": "TPMT",
6316 "chromosome": "chr6",
6317 "position": 18133845,
6318 "dbSnpId": "rs75543815",
6319 "call": "T|T",
6320 "alleles": [
6321 "*6"
6322 ],
6323 "phased": true,
6324 "wildtypeAllele": "T",
6325 "mismatch": false
6326 },
6327 {
6328 "gene": "TPMT",
6329 "chromosome": "chr6",
6330 "position": 18133847,
6331 "dbSnpId": "rs6921269",
6332 "call": "C|C",
6333 "alleles": [
6334 "*24"
6335 ],
6336 "phased": true,
6337 "wildtypeAllele": "C",
6338 "mismatch": false
6339 },
6340 {
6341 "gene": "TPMT",
6342 "chromosome": "chr6",
6343 "position": 18133870,
6344 "dbSnpId": "rs772832951",
6345 "call": "A|A",
6346 "alleles": [
6347 "*38"
6348 ],
6349 "phased": true,
6350 "wildtypeAllele": "A",
6351 "mismatch": false
6352 },
6353 {
6354 "gene": "TPMT",
6355 "chromosome": "chr6",
6356 "position": 18133884,
6357 "dbSnpId": "rs74423290",
6358 "call": "G|G",
6359 "alleles": [
6360 "*23"
6361 ],
6362 "phased": true,
6363 "wildtypeAllele": "G",
6364 "mismatch": false
6365 },
6366 {
6367 "gene": "TPMT",
6368 "chromosome": "chr6",
6369 "position": 18133887,
6370 "dbSnpId": "rs201695576",
6371 "call": "T|T",
6372 "alleles": [
6373 "*44"
6374 ],
6375 "phased": true,
6376 "wildtypeAllele": "T",
6377 "mismatch": false
6378 },
6379 {
6380 "gene": "TPMT",
6381 "chromosome": "chr6",
6382 "position": 18133890,
6383 "dbSnpId": "rs9333570",
6384 "call": "C|C",
6385 "alleles": [
6386 "*15"
6387 ],
6388 "phased": true,
6389 "wildtypeAllele": "C",
6390 "mismatch": false
6391 },
6392 {
6393 "gene": "TPMT",
6394 "chromosome": "chr6",
6395 "position": 18138969,
6396 "dbSnpId": "rs144041067",
6397 "call": "C|C",
6398 "alleles": [
6399 "*16",
6400 "*22"
6401 ],
6402 "phased": true,
6403 "wildtypeAllele": "C",
6404 "mismatch": false
6405 },
6406 {
6407 "gene": "TPMT",
6408 "chromosome": "chr6",
6409 "position": 18138970,
6410 "dbSnpId": "rs112339338",
6411 "call": "G|G",
6412 "alleles": [
6413 "*33"
6414 ],
6415 "phased": true,
6416 "wildtypeAllele": "G",
6417 "mismatch": false
6418 },
6419 {
6420 "gene": "TPMT",
6421 "chromosome": "chr6",
6422 "position": 18138997,
6423 "dbSnpId": "rs1800460",
6424 "call": "C|C",
6425 "alleles": [
6426 "*3A",
6427 "*3B"
6428 ],
6429 "phased": true,
6430 "wildtypeAllele": "C",
6431 "mismatch": false
6432 },
6433 {
6434 "gene": "TPMT",
6435 "chromosome": "chr6",
6436 "position": 18139027,
6437 "dbSnpId": "rs72552737",
6438 "call": "C|C",
6439 "alleles": [
6440 "*10"
6441 ],
6442 "phased": true,
6443 "wildtypeAllele": "C",
6444 "mismatch": false
6445 },
6446 {
6447 "gene": "TPMT",
6448 "chromosome": "chr6",
6449 "position": 18139689,
6450 "dbSnpId": "rs72552738",
6451 "call": "C|C",
6452 "alleles": [
6453 "*11"
6454 ],
6455 "phased": true,
6456 "wildtypeAllele": "C",
6457 "mismatch": false
6458 },
6459 {
6460 "gene": "TPMT",
6461 "chromosome": "chr6",
6462 "position": 18139710,
6463 "dbSnpId": "rs200220210",
6464 "call": "G|G",
6465 "alleles": [
6466 "*12"
6467 ],
6468 "phased": true,
6469 "wildtypeAllele": "G",
6470 "mismatch": false
6471 },
6472 {
6473 "gene": "TPMT",
6474 "chromosome": "chr6",
6475 "position": 18143597,
6476 "dbSnpId": null,
6477 "call": "T|T",
6478 "alleles": [
6479 "*19"
6480 ],
6481 "phased": true,
6482 "wildtypeAllele": "T",
6483 "mismatch": false
6484 },
6485 {
6486 "gene": "TPMT",
6487 "chromosome": "chr6",
6488 "position": 18143606,
6489 "dbSnpId": "rs151149760",
6490 "call": "T|T",
6491 "alleles": [
6492 "*9"
6493 ],
6494 "phased": true,
6495 "wildtypeAllele": "T",
6496 "mismatch": false
6497 },
6498 {
6499 "gene": "TPMT",
6500 "chromosome": "chr6",
6501 "position": 18143613,
6502 "dbSnpId": null,
6503 "call": "C|C",
6504 "alleles": [
6505 "*28"
6506 ],
6507 "phased": true,
6508 "wildtypeAllele": "C",
6509 "mismatch": false
6510 },
6511 {
6512 "gene": "TPMT",
6513 "chromosome": "chr6",
6514 "position": 18143622,
6515 "dbSnpId": "rs115106679",
6516 "call": "C|C",
6517 "alleles": [
6518 "*32"
6519 ],
6520 "phased": true,
6521 "wildtypeAllele": "C",
6522 "mismatch": false
6523 },
6524 {
6525 "gene": "TPMT",
6526 "chromosome": "chr6",
6527 "position": 18143643,
6528 "dbSnpId": null,
6529 "call": "A|A",
6530 "alleles": [
6531 "*27"
6532 ],
6533 "phased": true,
6534 "wildtypeAllele": "A",
6535 "mismatch": false
6536 },
6537 {
6538 "gene": "TPMT",
6539 "chromosome": "chr6",
6540 "position": 18143700,
6541 "dbSnpId": "rs753545734",
6542 "call": "C|C",
6543 "alleles": [
6544 "*43"
6545 ],
6546 "phased": true,
6547 "wildtypeAllele": "C",
6548 "mismatch": false
6549 },
6550 {
6551 "gene": "TPMT",
6552 "chromosome": "chr6",
6553 "position": 18143718,
6554 "dbSnpId": "rs111901354",
6555 "call": "G|G",
6556 "alleles": [
6557 "*34"
6558 ],
6559 "phased": true,
6560 "wildtypeAllele": "G",
6561 "mismatch": false
6562 },
6563 {
6564 "gene": "TPMT",
6565 "chromosome": "chr6",
6566 "position": 18143724,
6567 "dbSnpId": "rs1800462",
6568 "call": "C|C",
6569 "alleles": [
6570 "*2"
6571 ],
6572 "phased": true,
6573 "wildtypeAllele": "C",
6574 "mismatch": false
6575 },
6576 {
6577 "gene": "TPMT",
6578 "chromosome": "chr6",
6579 "position": 18143728,
6580 "dbSnpId": "rs1256618794",
6581 "call": "C|C",
6582 "alleles": [
6583 "*43"
6584 ],
6585 "phased": true,
6586 "wildtypeAllele": "C",
6587 "mismatch": false
6588 },
6589 {
6590 "gene": "TPMT",
6591 "chromosome": "chr6",
6592 "position": 18147838,
6593 "dbSnpId": "rs281874771",
6594 "call": "G|G",
6595 "alleles": [
6596 "*39"
6597 ],
6598 "phased": true,
6599 "wildtypeAllele": "G",
6600 "mismatch": false
6601 },
6602 {
6603 "gene": "TPMT",
6604 "chromosome": "chr6",
6605 "position": 18147845,
6606 "dbSnpId": "rs777686348",
6607 "call": "C|C",
6608 "alleles": [
6609 "*18"
6610 ],
6611 "phased": true,
6612 "wildtypeAllele": "C",
6613 "mismatch": false
6614 },
6615 {
6616 "gene": "TPMT",
6617 "chromosome": "chr6",
6618 "position": 18147851,
6619 "dbSnpId": "rs200591577",
6620 "call": "G|G",
6621 "alleles": [
6622 "*21"
6623 ],
6624 "phased": true,
6625 "wildtypeAllele": "G",
6626 "mismatch": false
6627 },
6628 {
6629 "gene": "TPMT",
6630 "chromosome": "chr6",
6631 "position": 18147856,
6632 "dbSnpId": null,
6633 "call": "A|A",
6634 "alleles": [
6635 "*35"
6636 ],
6637 "phased": true,
6638 "wildtypeAllele": "A",
6639 "mismatch": false
6640 },
6641 {
6642 "gene": "TPMT",
6643 "chromosome": "chr6",
6644 "position": 18147910,
6645 "dbSnpId": "rs72552740",
6646 "call": "A|A",
6647 "alleles": [
6648 "*5"
6649 ],
6650 "phased": true,
6651 "wildtypeAllele": "A",
6652 "mismatch": false
6653 },
6654 {
6655 "gene": "TPMT",
6656 "chromosome": "chr6",
6657 "position": 18149004,
6658 "dbSnpId": null,
6659 "call": "G|G",
6660 "alleles": [
6661 "*17"
6662 ],
6663 "phased": true,
6664 "wildtypeAllele": "G",
6665 "mismatch": false
6666 },
6667 {
6668 "gene": "TPMT",
6669 "chromosome": "chr6",
6670 "position": 18149022,
6671 "dbSnpId": "rs750424422",
6672 "call": "C|C",
6673 "alleles": [
6674 "*30"
6675 ],
6676 "phased": true,
6677 "wildtypeAllele": "C",
6678 "mismatch": false
6679 },
6680 {
6681 "gene": "TPMT",
6682 "chromosome": "chr6",
6683 "position": 18149032,
6684 "dbSnpId": "rs759836180",
6685 "call": "C|C",
6686 "alleles": [
6687 "*42"
6688 ],
6689 "phased": true,
6690 "wildtypeAllele": "C",
6691 "mismatch": false
6692 },
6693 {
6694 "gene": "TPMT",
6695 "chromosome": "chr6",
6696 "position": 18149045,
6697 "dbSnpId": "rs72552742",
6698 "call": "T|T",
6699 "alleles": [
6700 "*13"
6701 ],
6702 "phased": true,
6703 "wildtypeAllele": "T",
6704 "mismatch": false
6705 },
6706 {
6707 "gene": "TPMT",
6708 "chromosome": "chr6",
6709 "position": 18149126,
6710 "dbSnpId": "rs267607275",
6711 "call": "A|A",
6712 "alleles": [
6713 "*29"
6714 ],
6715 "phased": true,
6716 "wildtypeAllele": "A",
6717 "mismatch": false
6718 },
6719 {
6720 "gene": "TPMT",
6721 "chromosome": "chr6",
6722 "position": 18149127,
6723 "dbSnpId": "rs9333569",
6724 "call": "T|T",
6725 "alleles": [
6726 "*14"
6727 ],
6728 "phased": true,
6729 "wildtypeAllele": "T",
6730 "mismatch": false
6731 }
6732 ],
6733 "variantsOfInterest": [],
6734 "highlightedVariants": []
6735 },
6736 {
6737 "geneSymbol": "UGT1A1",
6738 "chr": "chr2",
6739 "phased": true,
6740 "callSource": "MATCHER",
6741 "uncalledHaplotypes": [],
6742 "messages": [
6743 {
6744 "rule_name": "UGT1A1 repeat warning",
6745 "version": "1",
6746 "matches": {
6747 "gene": "UGT1A1",
6748 "hapsCalled": [],
6749 "hapsMissing": [],
6750 "variantsMissing": [],
6751 "variant": "",
6752 "dips": [],
6753 "drugs": []
6754 },
6755 "exception_type": "footnote",
6756 "message": "Some alleles in UGT1A1 are distinguished by a repeat sequence; some genotyping technologies may not accurately call the repeat."
6757 }
6758 ],
6759 "relatedDrugs": [
6760 {
6761 "name": "atazanavir",
6762 "guidelineId": "RxNorm:343047"
6763 }
6764 ],
6765 "matcherDiplotypes": [
6766 {
6767 "allele1": {
6768 "gene": "UGT1A1",
6769 "name": "*1",
6770 "function": "Normal function",
6771 "reference": true
6772 },
6773 "allele2": {
6774 "gene": "UGT1A1",
6775 "name": "*1",
6776 "function": "Normal function",
6777 "reference": true
6778 },
6779 "gene": "UGT1A1",
6780 "phenotype": "Normal Metabolizer",
6781 "variant": null,
6782 "lookupKey": "Normal Metabolizer",
6783 "label": "*1/*1"
6784 }
6785 ],
6786 "diplotypes": [
6787 {
6788 "allele1": {
6789 "gene": "UGT1A1",
6790 "name": "*1",
6791 "function": "Normal function",
6792 "reference": true
6793 },
6794 "allele2": {
6795 "gene": "UGT1A1",
6796 "name": "*1",
6797 "function": "Normal function",
6798 "reference": true
6799 },
6800 "gene": "UGT1A1",
6801 "phenotype": "Normal Metabolizer",
6802 "variant": null,
6803 "lookupKey": "Normal Metabolizer",
6804 "label": "*1/*1"
6805 }
6806 ],
6807 "variants": [
6808 {
6809 "gene": "UGT1A1",
6810 "chromosome": "chr2",
6811 "position": 233759924,
6812 "dbSnpId": "rs887829",
6813 "call": "C|C",
6814 "alleles": [
6815 "*80",
6816 "*80+*28",
6817 "*80+*37"
6818 ],
6819 "phased": true,
6820 "wildtypeAllele": "C",
6821 "mismatch": false
6822 },
6823 {
6824 "gene": "UGT1A1",
6825 "chromosome": "chr2",
6826 "position": 233760233,
6827 "dbSnpId": "rs3064744",
6828 "call": "CAT|CAT",
6829 "alleles": [
6830 "*28",
6831 "*36",
6832 "*37",
6833 "*80+*28",
6834 "*80+*37"
6835 ],
6836 "phased": true,
6837 "wildtypeAllele": "CAT",
6838 "mismatch": false
6839 },
6840 {
6841 "gene": "UGT1A1",
6842 "chromosome": "chr2",
6843 "position": 233760498,
6844 "dbSnpId": "rs4148323",
6845 "call": "G|G",
6846 "alleles": [
6847 "*6"
6848 ],
6849 "phased": true,
6850 "wildtypeAllele": "G",
6851 "mismatch": false
6852 },
6853 {
6854 "gene": "UGT1A1",
6855 "chromosome": "chr2",
6856 "position": 233760973,
6857 "dbSnpId": "rs35350960",
6858 "call": "C|C",
6859 "alleles": [
6860 "*27"
6861 ],
6862 "phased": true,
6863 "wildtypeAllele": "C",
6864 "mismatch": false
6865 }
6866 ],
6867 "variantsOfInterest": [],
6868 "highlightedVariants": []
6869 },
6870 {
6871 "geneSymbol": "VKORC1",
6872 "chr": "chr16",
6873 "phased": true,
6874 "callSource": "MATCHER",
6875 "uncalledHaplotypes": [],
6876 "messages": [
6877 {
6878 "rule_name": "VKORC1",
6879 "version": "1",
6880 "matches": {
6881 "gene": "VKORC1",
6882 "hapsCalled": [],
6883 "hapsMissing": [],
6884 "variantsMissing": [],
6885 "variant": "",
6886 "dips": [],
6887 "drugs": []
6888 },
6889 "exception_type": "footnote",
6890 "message": "CPIC recommendations for warfarin use only rs9923231; however, other variants in VKORC1 may have functional consequences and may be more common in some populations."
6891 },
6892 {
6893 "rule_name": "VKORC1 reverse complement footnote",
6894 "version": "1",
6895 "matches": {
6896 "gene": "VKORC1",
6897 "hapsCalled": [],
6898 "hapsMissing": [],
6899 "variantsMissing": [],
6900 "variant": "",
6901 "dips": [],
6902 "drugs": []
6903 },
6904 "exception_type": "footnote",
6905 "message": "The VKORC1 gene is on the negative chromosomal strand, all genotype calls for VKORC1 in this report refer to the positive chromosomal strand. Therefore, genotype calls are complemented from gene bases."
6906 }
6907 ],
6908 "relatedDrugs": [
6909 {
6910 "name": "warfarin",
6911 "guidelineId": "RxNorm:11289"
6912 }
6913 ],
6914 "matcherDiplotypes": [
6915 {
6916 "allele1": {
6917 "gene": "VKORC1",
6918 "name": "rs9923231 reference (C)",
6919 "function": null,
6920 "reference": true
6921 },
6922 "allele2": {
6923 "gene": "VKORC1",
6924 "name": "rs9923231 reference (C)",
6925 "function": null,
6926 "reference": true
6927 },
6928 "gene": "VKORC1",
6929 "phenotype": null,
6930 "variant": null,
6931 "lookupKey": null,
6932 "label": "rs9923231 reference (C)/rs9923231 reference (C)"
6933 }
6934 ],
6935 "diplotypes": [
6936 {
6937 "allele1": {
6938 "gene": "VKORC1",
6939 "name": "rs9923231 reference (C)",
6940 "function": null,
6941 "reference": true
6942 },
6943 "allele2": {
6944 "gene": "VKORC1",
6945 "name": "rs9923231 reference (C)",
6946 "function": null,
6947 "reference": true
6948 },
6949 "gene": "VKORC1",
6950 "phenotype": null,
6951 "variant": null,
6952 "lookupKey": null,
6953 "label": "rs9923231 reference (C)/rs9923231 reference (C)"
6954 }
6955 ],
6956 "variants": [
6957 {
6958 "gene": "VKORC1",
6959 "chromosome": "chr16",
6960 "position": 31096368,
6961 "dbSnpId": "rs9923231",
6962 "call": "C|C",
6963 "alleles": [
6964 "rs9923231 variant (T)"
6965 ],
6966 "phased": true,
6967 "wildtypeAllele": "C",
6968 "mismatch": false
6969 }
6970 ],
6971 "variantsOfInterest": [],
6972 "highlightedVariants": []
6973 }
6974 ]