annotate test-data/test_4.json @ 0:d67642a21a1d draft

"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
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d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
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1 [
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bgruening
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2 {
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3 "geneSymbol": "CACNA1S",
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4 "chr": "chr1",
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5 "phased": true,
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6 "callSource": "MATCHER",
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7 "uncalledHaplotypes": [],
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8 "messages": [],
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9 "relatedDrugs": [],
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10 "matcherDiplotypes": [
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11 {
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12 "allele1": {
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13 "gene": "CACNA1S",
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14 "name": "Reference",
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bgruening
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15 "function": "Normal Function",
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16 "reference": true
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17 },
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18 "allele2": {
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bgruening
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19 "gene": "CACNA1S",
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20 "name": "Reference",
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21 "function": "Normal Function",
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22 "reference": true
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bgruening
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23 },
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24 "gene": "CACNA1S",
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25 "phenotype": "Uncertain Susceptibility",
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26 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
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27 "lookupKey": "Uncertain Susceptibility",
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28 "label": "Reference/Reference"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
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29 }
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30 ],
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bgruening
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31 "diplotypes": [
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bgruening
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32 {
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33 "allele1": {
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bgruening
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34 "gene": "CACNA1S",
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bgruening
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35 "name": "Reference",
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36 "function": "Normal Function",
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37 "reference": true
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38 },
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39 "allele2": {
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bgruening
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40 "gene": "CACNA1S",
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41 "name": "Reference",
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bgruening
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42 "function": "Normal Function",
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bgruening
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43 "reference": true
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bgruening
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44 },
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bgruening
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45 "gene": "CACNA1S",
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bgruening
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46 "phenotype": "Uncertain Susceptibility",
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47 "variant": null,
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bgruening
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48 "lookupKey": "Uncertain Susceptibility",
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49 "label": "Reference/Reference"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
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50 }
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51 ],
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bgruening
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52 "variants": [
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53 {
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54 "gene": "CACNA1S",
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55 "chromosome": "chr1",
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56 "position": 201060815,
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57 "dbSnpId": "rs1800559",
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58 "call": "C|C",
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59 "alleles": [
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60 "c.3257G\u003eA"
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61 ],
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62 "phased": false,
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63 "wildtypeAllele": "C",
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64 "mismatch": false
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65 },
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66 {
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67 "gene": "CACNA1S",
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68 "chromosome": "chr1",
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69 "position": 201091993,
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70 "dbSnpId": "rs772226819",
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71 "call": "G|G",
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bgruening
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72 "alleles": [
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73 "c.520C\u003eT"
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74 ],
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75 "phased": false,
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76 "wildtypeAllele": "G",
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77 "mismatch": false
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bgruening
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78 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
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79 ],
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bgruening
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80 "variantsOfInterest": [],
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bgruening
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81 "highlightedVariants": []
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bgruening
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82 },
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bgruening
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83 {
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bgruening
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84 "geneSymbol": "CFTR",
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bgruening
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85 "chr": "chr7",
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bgruening
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86 "phased": true,
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bgruening
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87 "callSource": "MATCHER",
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88 "uncalledHaplotypes": [],
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bgruening
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89 "messages": [],
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bgruening
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90 "relatedDrugs": [],
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bgruening
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diff changeset
91 "matcherDiplotypes": [
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bgruening
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diff changeset
92 {
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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diff changeset
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bgruening
parents:
diff changeset
98 },
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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bgruening
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diff changeset
104 },
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bgruening
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bgruening
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diff changeset
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bgruening
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diff changeset
107 "variant": null,
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bgruening
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diff changeset
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bgruening
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diff changeset
109 "label": "No CPIC variants found"
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bgruening
parents:
diff changeset
110 }
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bgruening
parents:
diff changeset
111 ],
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bgruening
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diff changeset
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bgruening
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diff changeset
113 {
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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bgruening
parents:
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bgruening
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diff changeset
119 },
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bgruening
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diff changeset
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bgruening
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bgruening
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
125 },
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
130 "label": "No CPIC variants found"
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bgruening
parents:
diff changeset
131 }
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bgruening
parents:
diff changeset
132 ],
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
134 {
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bgruening
parents:
diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
139 "call": "G|G",
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bgruening
parents:
diff changeset
140 "alleles": [
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bgruening
parents:
diff changeset
141 "E56K"
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bgruening
parents:
diff changeset
142 ],
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bgruening
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143 "phased": false,
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
146 },
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bgruening
parents:
diff changeset
147 {
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
153 "alleles": [
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bgruening
parents:
diff changeset
154 "P67L"
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bgruening
parents:
diff changeset
155 ],
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bgruening
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bgruening
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
159 },
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bgruening
parents:
diff changeset
160 {
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
167 "R74W"
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bgruening
parents:
diff changeset
168 ],
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bgruening
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bgruening
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bgruening
parents:
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bgruening
parents:
diff changeset
172 },
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bgruening
parents:
diff changeset
173 {
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
178 "call": "G|G",
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bgruening
parents:
diff changeset
179 "alleles": [
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bgruening
parents:
diff changeset
180 "D110H"
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bgruening
parents:
diff changeset
181 ],
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bgruening
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182 "phased": false,
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bgruening
parents:
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diff changeset
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diff changeset
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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693 }
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bgruening
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694 ],
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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bgruening
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706 "*36"
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bgruening
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diff changeset
707 ],
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bgruening
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bgruening
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bgruening
parents:
diff changeset
711 },
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bgruening
parents:
diff changeset
712 {
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bgruening
parents:
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bgruening
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bgruening
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bgruening
parents:
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717 "call": "A|A",
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bgruening
parents:
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bgruening
parents:
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719 "*10"
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bgruening
parents:
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720 ],
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bgruening
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bgruening
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724 },
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bgruening
parents:
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725 {
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parents:
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parents:
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bgruening
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bgruening
parents:
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bgruening
parents:
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730 "call": "C|C",
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bgruening
parents:
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bgruening
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bgruening
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734 ],
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bgruening
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735 "phased": false,
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bgruening
parents:
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bgruening
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957 },
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bgruening
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967 ],
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parents:
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bgruening
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bgruening
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bgruening
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bgruening
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980 ],
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bgruening
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
diff changeset
992 "*4",
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bgruening
parents:
diff changeset
993 "*6",
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bgruening
parents:
diff changeset
994 "*7",
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bgruening
parents:
diff changeset
995 "*13",
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parents:
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996 "*18",
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bgruening
parents:
diff changeset
997 "*19",
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bgruening
parents:
diff changeset
998 "*20",
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bgruening
parents:
diff changeset
999 "*26",
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bgruening
parents:
diff changeset
1000 "*34",
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bgruening
parents:
diff changeset
1001 "*36",
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bgruening
parents:
diff changeset
1002 "*37",
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bgruening
parents:
diff changeset
1003 "*38"
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bgruening
parents:
diff changeset
1004 ],
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bgruening
parents:
diff changeset
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
diff changeset
1008 },
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bgruening
parents:
diff changeset
1009 {
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
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bgruening
parents:
diff changeset
1013 "dbSnpId": "rs139029625",
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bgruening
parents:
diff changeset
1014 "call": "G|G",
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bgruening
parents:
diff changeset
1015 "alleles": [
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bgruening
parents:
diff changeset
1016 "*35"
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parents:
diff changeset
1017 ],
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bgruening
parents:
diff changeset
1021 },
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bgruening
parents:
diff changeset
1022 {
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parents:
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1023 "gene": "CYP2B6",
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parents:
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1024 "chromosome": "chr19",
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parents:
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parents:
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1026 "dbSnpId": "rs34698757",
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parents:
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bgruening
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parents:
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1029 "*28"
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bgruening
parents:
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1030 ],
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bgruening
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1034 },
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bgruening
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1035 {
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
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bgruening
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1042 "*31"
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bgruening
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1043 ],
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bgruening
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bgruening
parents:
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1047 },
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
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1053 "call": "T|T",
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bgruening
parents:
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1054 "alleles": [
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bgruening
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1055 "*18"
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bgruening
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1056 ],
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bgruening
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bgruening
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1058 "wildtypeAllele": "T",
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bgruening
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bgruening
parents:
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1060 },
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bgruening
parents:
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1061 {
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parents:
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1062 "gene": "CYP2B6",
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bgruening
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bgruening
parents:
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1065 "dbSnpId": "rs34826503",
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bgruening
parents:
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1066 "call": "C|C",
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bgruening
parents:
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1067 "alleles": [
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bgruening
parents:
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1068 "*19"
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bgruening
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1069 ],
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bgruening
parents:
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bgruening
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bgruening
parents:
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bgruening
parents:
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1073 },
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bgruening
parents:
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1074 {
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parents:
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1075 "gene": "CYP2B6",
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bgruening
parents:
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1076 "chromosome": "chr19",
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bgruening
parents:
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bgruening
parents:
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1078 "dbSnpId": "rs34097093",
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bgruening
parents:
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1079 "call": "C|C",
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bgruening
parents:
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1080 "alleles": [
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bgruening
parents:
diff changeset
1081 "*28"
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bgruening
parents:
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1082 ],
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bgruening
parents:
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bgruening
parents:
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1084 "wildtypeAllele": "C",
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bgruening
parents:
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1085 "mismatch": false
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bgruening
parents:
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1086 },
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bgruening
parents:
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1087 {
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parents:
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bgruening
parents:
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bgruening
parents:
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bgruening
parents:
diff changeset
1091 "dbSnpId": "rs35979566",
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bgruening
parents:
diff changeset
1092 "call": "T|T",
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bgruening
parents:
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1093 "alleles": [
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bgruening
parents:
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1094 "*15"
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bgruening
parents:
diff changeset
1095 ],
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bgruening
parents:
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1096 "phased": false,
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bgruening
parents:
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1097 "wildtypeAllele": "T",
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bgruening
parents:
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1098 "mismatch": false
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bgruening
parents:
diff changeset
1099 },
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bgruening
parents:
diff changeset
1100 {
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bgruening
parents:
diff changeset
1101 "gene": "CYP2B6",
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bgruening
parents:
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1102 "chromosome": "chr19",
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bgruening
parents:
diff changeset
1103 "position": 41012740,
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bgruening
parents:
diff changeset
1104 "dbSnpId": "rs193922918",
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bgruening
parents:
diff changeset
1105 "call": "G|G",
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bgruening
parents:
diff changeset
1106 "alleles": [
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bgruening
parents:
diff changeset
1107 "*32"
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bgruening
parents:
diff changeset
1108 ],
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bgruening
parents:
diff changeset
1109 "phased": false,
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parents:
diff changeset
1110 "wildtypeAllele": "G",
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parents:
diff changeset
1111 "mismatch": false
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bgruening
parents:
diff changeset
1112 },
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bgruening
parents:
diff changeset
1113 {
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bgruening
parents:
diff changeset
1114 "gene": "CYP2B6",
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bgruening
parents:
diff changeset
1115 "chromosome": "chr19",
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bgruening
parents:
diff changeset
1116 "position": 41012803,
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bgruening
parents:
diff changeset
1117 "dbSnpId": "rs35010098",
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bgruening
parents:
diff changeset
1118 "call": "C|C",
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bgruening
parents:
diff changeset
1119 "alleles": [
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bgruening
parents:
diff changeset
1120 "*21"
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bgruening
parents:
diff changeset
1121 ],
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bgruening
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diff changeset
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bgruening
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diff changeset
1123 "wildtypeAllele": "C",
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bgruening
parents:
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1124 "mismatch": false
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bgruening
parents:
diff changeset
1125 },
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bgruening
parents:
diff changeset
1126 {
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bgruening
parents:
diff changeset
1127 "gene": "CYP2B6",
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bgruening
parents:
diff changeset
1128 "chromosome": "chr19",
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bgruening
parents:
diff changeset
1129 "position": 41016726,
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bgruening
parents:
diff changeset
1130 "dbSnpId": "rs3211369",
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bgruening
parents:
diff changeset
1131 "call": "A|A",
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bgruening
parents:
diff changeset
1132 "alleles": [
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bgruening
parents:
diff changeset
1133 "*23"
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bgruening
parents:
diff changeset
1134 ],
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bgruening
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diff changeset
1135 "phased": false,
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bgruening
parents:
diff changeset
1136 "wildtypeAllele": "A",
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bgruening
parents:
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1137 "mismatch": false
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bgruening
parents:
diff changeset
1138 },
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bgruening
parents:
diff changeset
1139 {
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bgruening
parents:
diff changeset
1140 "gene": "CYP2B6",
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bgruening
parents:
diff changeset
1141 "chromosome": "chr19",
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bgruening
parents:
diff changeset
1142 "position": 41016778,
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bgruening
parents:
diff changeset
1143 "dbSnpId": "rs564083989",
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bgruening
parents:
diff changeset
1144 "call": "G|G",
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bgruening
parents:
diff changeset
1145 "alleles": [
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bgruening
parents:
diff changeset
1146 "*24"
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bgruening
parents:
diff changeset
1147 ],
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bgruening
parents:
diff changeset
1148 "phased": false,
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bgruening
parents:
diff changeset
1149 "wildtypeAllele": "G",
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bgruening
parents:
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1150 "mismatch": false
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bgruening
parents:
diff changeset
1151 },
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bgruening
parents:
diff changeset
1152 {
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bgruening
parents:
diff changeset
1153 "gene": "CYP2B6",
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bgruening
parents:
diff changeset
1154 "chromosome": "chr19",
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bgruening
parents:
diff changeset
1155 "position": 41016805,
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bgruening
parents:
diff changeset
1156 "dbSnpId": null,
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bgruening
parents:
diff changeset
1157 "call": "A|A",
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bgruening
parents:
diff changeset
1158 "alleles": [
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bgruening
parents:
diff changeset
1159 "*25"
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bgruening
parents:
diff changeset
1160 ],
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bgruening
parents:
diff changeset
1161 "phased": false,
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bgruening
parents:
diff changeset
1162 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1163 "mismatch": false
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bgruening
parents:
diff changeset
1164 },
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bgruening
parents:
diff changeset
1165 {
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bgruening
parents:
diff changeset
1166 "gene": "CYP2B6",
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bgruening
parents:
diff changeset
1167 "chromosome": "chr19",
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bgruening
parents:
diff changeset
1168 "position": 41016810,
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bgruening
parents:
diff changeset
1169 "dbSnpId": "rs3211371",
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bgruening
parents:
diff changeset
1170 "call": "C|C",
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bgruening
parents:
diff changeset
1171 "alleles": [
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bgruening
parents:
diff changeset
1172 "*5",
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bgruening
parents:
diff changeset
1173 "*7",
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bgruening
parents:
diff changeset
1174 "*33",
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bgruening
parents:
diff changeset
1175 "*34"
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bgruening
parents:
diff changeset
1176 ],
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bgruening
parents:
diff changeset
1177 "phased": false,
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bgruening
parents:
diff changeset
1178 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
1179 "mismatch": false
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bgruening
parents:
diff changeset
1180 }
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bgruening
parents:
diff changeset
1181 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1182 "variantsOfInterest": [],
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bgruening
parents:
diff changeset
1183 "highlightedVariants": []
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bgruening
parents:
diff changeset
1184 },
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bgruening
parents:
diff changeset
1185 {
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bgruening
parents:
diff changeset
1186 "geneSymbol": "CYP2C19",
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bgruening
parents:
diff changeset
1187 "chr": "chr10",
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bgruening
parents:
diff changeset
1188 "phased": true,
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bgruening
parents:
diff changeset
1189 "callSource": "MATCHER",
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bgruening
parents:
diff changeset
1190 "uncalledHaplotypes": [],
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bgruening
parents:
diff changeset
1191 "messages": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1192 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1193 "matcherDiplotypes": [
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bgruening
parents:
diff changeset
1194 {
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bgruening
parents:
diff changeset
1195 "allele1": {
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bgruening
parents:
diff changeset
1196 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1197 "name": "*38",
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bgruening
parents:
diff changeset
1198 "function": "Normal function",
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bgruening
parents:
diff changeset
1199 "reference": true
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bgruening
parents:
diff changeset
1200 },
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bgruening
parents:
diff changeset
1201 "allele2": {
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bgruening
parents:
diff changeset
1202 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1203 "name": "*38",
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bgruening
parents:
diff changeset
1204 "function": "Normal function",
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bgruening
parents:
diff changeset
1205 "reference": true
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bgruening
parents:
diff changeset
1206 },
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bgruening
parents:
diff changeset
1207 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1208 "phenotype": "Normal Metabolizer",
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bgruening
parents:
diff changeset
1209 "variant": null,
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bgruening
parents:
diff changeset
1210 "lookupKey": "Normal Metabolizer",
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bgruening
parents:
diff changeset
1211 "label": "*38/*38"
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bgruening
parents:
diff changeset
1212 }
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bgruening
parents:
diff changeset
1213 ],
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bgruening
parents:
diff changeset
1214 "diplotypes": [
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bgruening
parents:
diff changeset
1215 {
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diff changeset
1216 "allele1": {
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parents:
diff changeset
1218 "name": "*38",
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bgruening
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diff changeset
1219 "function": "Normal function",
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bgruening
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diff changeset
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bgruening
parents:
diff changeset
1221 },
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bgruening
parents:
diff changeset
1222 "allele2": {
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bgruening
parents:
diff changeset
1223 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1224 "name": "*38",
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bgruening
parents:
diff changeset
1225 "function": "Normal function",
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bgruening
parents:
diff changeset
1226 "reference": true
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bgruening
parents:
diff changeset
1227 },
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bgruening
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bgruening
parents:
diff changeset
1229 "phenotype": "Normal Metabolizer",
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bgruening
parents:
diff changeset
1230 "variant": null,
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bgruening
parents:
diff changeset
1231 "lookupKey": "Normal Metabolizer",
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bgruening
parents:
diff changeset
1232 "label": "*38/*38"
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bgruening
parents:
diff changeset
1233 }
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bgruening
parents:
diff changeset
1234 ],
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bgruening
parents:
diff changeset
1235 "variants": [
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bgruening
parents:
diff changeset
1236 {
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bgruening
parents:
diff changeset
1237 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1238 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1239 "position": 94761900,
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bgruening
parents:
diff changeset
1240 "dbSnpId": "rs12248560",
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bgruening
parents:
diff changeset
1241 "call": "C|C",
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bgruening
parents:
diff changeset
1242 "alleles": [
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bgruening
parents:
diff changeset
1243 "*4",
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bgruening
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diff changeset
1244 "*17"
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bgruening
parents:
diff changeset
1245 ],
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bgruening
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1246 "phased": false,
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bgruening
parents:
diff changeset
1247 "wildtypeAllele": "C",
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bgruening
parents:
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1248 "mismatch": false
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bgruening
parents:
diff changeset
1249 },
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bgruening
parents:
diff changeset
1250 {
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bgruening
parents:
diff changeset
1251 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1252 "chromosome": "chr10",
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bgruening
parents:
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bgruening
parents:
diff changeset
1254 "dbSnpId": "rs28399504",
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bgruening
parents:
diff changeset
1255 "call": "A|A",
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bgruening
parents:
diff changeset
1256 "alleles": [
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bgruening
parents:
diff changeset
1257 "*4"
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bgruening
parents:
diff changeset
1258 ],
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bgruening
parents:
diff changeset
1259 "phased": false,
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bgruening
parents:
diff changeset
1260 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1261 "mismatch": false
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bgruening
parents:
diff changeset
1262 },
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bgruening
parents:
diff changeset
1263 {
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bgruening
parents:
diff changeset
1264 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1265 "chromosome": "chr10",
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
1267 "dbSnpId": "rs367543002",
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bgruening
parents:
diff changeset
1268 "call": "C|C",
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bgruening
parents:
diff changeset
1269 "alleles": [
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bgruening
parents:
diff changeset
1270 "*34"
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bgruening
parents:
diff changeset
1271 ],
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bgruening
parents:
diff changeset
1272 "phased": false,
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bgruening
parents:
diff changeset
1273 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
1274 "mismatch": false
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bgruening
parents:
diff changeset
1275 },
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bgruening
parents:
diff changeset
1276 {
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bgruening
parents:
diff changeset
1277 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1278 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1279 "position": 94762715,
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bgruening
parents:
diff changeset
1280 "dbSnpId": "rs367543003",
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bgruening
parents:
diff changeset
1281 "call": "T|T",
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bgruening
parents:
diff changeset
1282 "alleles": [
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bgruening
parents:
diff changeset
1283 "*34"
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bgruening
parents:
diff changeset
1284 ],
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bgruening
parents:
diff changeset
1285 "phased": false,
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bgruening
parents:
diff changeset
1286 "wildtypeAllele": "T",
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bgruening
parents:
diff changeset
1287 "mismatch": false
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bgruening
parents:
diff changeset
1288 },
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bgruening
parents:
diff changeset
1289 {
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bgruening
parents:
diff changeset
1290 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1291 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1292 "position": 94762755,
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bgruening
parents:
diff changeset
1293 "dbSnpId": "rs55752064",
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bgruening
parents:
diff changeset
1294 "call": "T|T",
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bgruening
parents:
diff changeset
1295 "alleles": [
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bgruening
parents:
diff changeset
1296 "*14"
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bgruening
parents:
diff changeset
1297 ],
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bgruening
parents:
diff changeset
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diff changeset
1299 "wildtypeAllele": "T",
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diff changeset
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bgruening
parents:
diff changeset
1301 },
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bgruening
parents:
diff changeset
1302 {
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parents:
diff changeset
1303 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1304 "chromosome": "chr10",
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diff changeset
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bgruening
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diff changeset
1306 "dbSnpId": "rs17882687",
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bgruening
parents:
diff changeset
1307 "call": "A|A",
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bgruening
parents:
diff changeset
1308 "alleles": [
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parents:
diff changeset
1309 "*15",
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bgruening
parents:
diff changeset
1310 "*28",
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diff changeset
1311 "*35",
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bgruening
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diff changeset
1312 "*39"
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bgruening
parents:
diff changeset
1313 ],
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parents:
diff changeset
1315 "wildtypeAllele": "A",
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parents:
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1316 "mismatch": false
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bgruening
parents:
diff changeset
1317 },
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bgruening
parents:
diff changeset
1318 {
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bgruening
parents:
diff changeset
1319 "gene": "CYP2C19",
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bgruening
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diff changeset
1320 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1321 "position": 94762788,
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bgruening
parents:
diff changeset
1322 "dbSnpId": "rs1564656981",
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bgruening
parents:
diff changeset
1323 "call": "A|A",
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bgruening
parents:
diff changeset
1324 "alleles": [
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bgruening
parents:
diff changeset
1325 "*29"
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bgruening
parents:
diff changeset
1326 ],
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bgruening
parents:
diff changeset
1327 "phased": false,
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bgruening
parents:
diff changeset
1328 "wildtypeAllele": "A",
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bgruening
parents:
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1329 "mismatch": false
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bgruening
parents:
diff changeset
1330 },
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bgruening
parents:
diff changeset
1331 {
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bgruening
parents:
diff changeset
1332 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1333 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1334 "position": 94762856,
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bgruening
parents:
diff changeset
1335 "dbSnpId": "rs1564657013",
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bgruening
parents:
diff changeset
1336 "call": "A|A",
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bgruening
parents:
diff changeset
1337 "alleles": [
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bgruening
parents:
diff changeset
1338 "*19"
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bgruening
parents:
diff changeset
1339 ],
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bgruening
parents:
diff changeset
1340 "phased": false,
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bgruening
parents:
diff changeset
1341 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1342 "mismatch": false
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bgruening
parents:
diff changeset
1343 },
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bgruening
parents:
diff changeset
1344 {
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bgruening
parents:
diff changeset
1345 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1346 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1347 "position": 94775106,
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bgruening
parents:
diff changeset
1348 "dbSnpId": "rs145328984",
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bgruening
parents:
diff changeset
1349 "call": "C|C",
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bgruening
parents:
diff changeset
1350 "alleles": [
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bgruening
parents:
diff changeset
1351 "*30"
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bgruening
parents:
diff changeset
1352 ],
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bgruening
parents:
diff changeset
1353 "phased": false,
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bgruening
parents:
diff changeset
1354 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
1355 "mismatch": false
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bgruening
parents:
diff changeset
1356 },
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bgruening
parents:
diff changeset
1357 {
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bgruening
parents:
diff changeset
1358 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1359 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1360 "position": 94775121,
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bgruening
parents:
diff changeset
1361 "dbSnpId": "rs1564660997",
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bgruening
parents:
diff changeset
1362 "call": "C|C",
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bgruening
parents:
diff changeset
1363 "alleles": [
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bgruening
parents:
diff changeset
1364 "*31"
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bgruening
parents:
diff changeset
1365 ],
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bgruening
parents:
diff changeset
1366 "phased": false,
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bgruening
parents:
diff changeset
1367 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
1368 "mismatch": false
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bgruening
parents:
diff changeset
1369 },
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bgruening
parents:
diff changeset
1370 {
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bgruening
parents:
diff changeset
1371 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1372 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1373 "position": 94775160,
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bgruening
parents:
diff changeset
1374 "dbSnpId": "rs118203756",
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bgruening
parents:
diff changeset
1375 "call": "G|G",
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bgruening
parents:
diff changeset
1376 "alleles": [
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bgruening
parents:
diff changeset
1377 "*23"
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bgruening
parents:
diff changeset
1378 ],
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bgruening
parents:
diff changeset
1379 "phased": false,
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bgruening
parents:
diff changeset
1380 "wildtypeAllele": "G",
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parents:
diff changeset
1381 "mismatch": false
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bgruening
parents:
diff changeset
1382 },
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bgruening
parents:
diff changeset
1383 {
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parents:
diff changeset
1384 "gene": "CYP2C19",
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parents:
diff changeset
1385 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1386 "position": 94775185,
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bgruening
parents:
diff changeset
1387 "dbSnpId": "rs1288601658",
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bgruening
parents:
diff changeset
1388 "call": "A|A",
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bgruening
parents:
diff changeset
1389 "alleles": [
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bgruening
parents:
diff changeset
1390 "*32"
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bgruening
parents:
diff changeset
1391 ],
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bgruening
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1393 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1395 },
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bgruening
parents:
diff changeset
1396 {
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parents:
diff changeset
1397 "gene": "CYP2C19",
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parents:
diff changeset
1398 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1400 "dbSnpId": "rs12769205",
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bgruening
parents:
diff changeset
1401 "call": "A|A",
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bgruening
parents:
diff changeset
1402 "alleles": [
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diff changeset
1403 "*2",
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bgruening
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diff changeset
1404 "*35"
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bgruening
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diff changeset
1405 ],
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1406 "phased": false,
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1407 "wildtypeAllele": "A",
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1408 "mismatch": false
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bgruening
parents:
diff changeset
1409 },
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bgruening
parents:
diff changeset
1410 {
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parents:
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1411 "gene": "CYP2C19",
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parents:
diff changeset
1412 "chromosome": "chr10",
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
1414 "dbSnpId": "rs41291556",
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bgruening
parents:
diff changeset
1415 "call": "T|T",
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bgruening
parents:
diff changeset
1416 "alleles": [
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bgruening
parents:
diff changeset
1417 "*8"
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bgruening
parents:
diff changeset
1418 ],
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bgruening
parents:
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1419 "phased": false,
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bgruening
parents:
diff changeset
1420 "wildtypeAllele": "T",
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bgruening
parents:
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1421 "mismatch": false
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bgruening
parents:
diff changeset
1422 },
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bgruening
parents:
diff changeset
1423 {
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parents:
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1424 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1425 "chromosome": "chr10",
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bgruening
parents:
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1426 "position": 94775423,
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bgruening
parents:
diff changeset
1427 "dbSnpId": "rs17885179",
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bgruening
parents:
diff changeset
1428 "call": "A|A",
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bgruening
parents:
diff changeset
1429 "alleles": [
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bgruening
parents:
diff changeset
1430 "*39"
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bgruening
parents:
diff changeset
1431 ],
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bgruening
parents:
diff changeset
1432 "phased": false,
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bgruening
parents:
diff changeset
1433 "wildtypeAllele": "A",
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bgruening
parents:
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1434 "mismatch": false
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bgruening
parents:
diff changeset
1435 },
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bgruening
parents:
diff changeset
1436 {
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bgruening
parents:
diff changeset
1437 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1438 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1439 "position": 94775453,
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bgruening
parents:
diff changeset
1440 "dbSnpId": "rs72552267",
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bgruening
parents:
diff changeset
1441 "call": "G|G",
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bgruening
parents:
diff changeset
1442 "alleles": [
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bgruening
parents:
diff changeset
1443 "*6"
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bgruening
parents:
diff changeset
1444 ],
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bgruening
parents:
diff changeset
1445 "phased": false,
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bgruening
parents:
diff changeset
1446 "wildtypeAllele": "G",
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bgruening
parents:
diff changeset
1447 "mismatch": false
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bgruening
parents:
diff changeset
1448 },
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bgruening
parents:
diff changeset
1449 {
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bgruening
parents:
diff changeset
1450 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1451 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1452 "position": 94775489,
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bgruening
parents:
diff changeset
1453 "dbSnpId": "rs17884712",
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bgruening
parents:
diff changeset
1454 "call": "G|G",
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bgruening
parents:
diff changeset
1455 "alleles": [
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bgruening
parents:
diff changeset
1456 "*9"
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bgruening
parents:
diff changeset
1457 ],
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bgruening
parents:
diff changeset
1458 "phased": false,
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bgruening
parents:
diff changeset
1459 "wildtypeAllele": "G",
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bgruening
parents:
diff changeset
1460 "mismatch": false
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bgruening
parents:
diff changeset
1461 },
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bgruening
parents:
diff changeset
1462 {
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bgruening
parents:
diff changeset
1463 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1464 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1465 "position": 94775507,
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bgruening
parents:
diff changeset
1466 "dbSnpId": "rs58973490",
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bgruening
parents:
diff changeset
1467 "call": "G|G",
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bgruening
parents:
diff changeset
1468 "alleles": [
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bgruening
parents:
diff changeset
1469 "*2",
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bgruening
parents:
diff changeset
1470 "*11"
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bgruening
parents:
diff changeset
1471 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
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parents:
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1472 "phased": false,
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parents:
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bgruening
parents:
diff changeset
1475 },
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bgruening
parents:
diff changeset
1476 {
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1477 "gene": "CYP2C19",
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parents:
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parents:
diff changeset
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parents:
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1481 "call": "G|G",
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parents:
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diff changeset
1483 "*22"
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1484 ],
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diff changeset
1488 },
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bgruening
parents:
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1489 {
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parents:
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bgruening
parents:
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1494 "call": "G|G",
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bgruening
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1495 "alleles": [
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diff changeset
1496 "*33"
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bgruening
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1497 ],
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1499 "wildtypeAllele": "G",
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1500 "mismatch": false
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bgruening
parents:
diff changeset
1501 },
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bgruening
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diff changeset
1502 {
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1503 "gene": "CYP2C19",
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1504 "chromosome": "chr10",
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bgruening
parents:
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1506 "dbSnpId": "rs4986893",
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bgruening
parents:
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1507 "call": "G|G",
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bgruening
parents:
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1508 "alleles": [
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bgruening
parents:
diff changeset
1509 "*3"
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bgruening
parents:
diff changeset
1510 ],
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1512 "wildtypeAllele": "G",
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parents:
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1513 "mismatch": false
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bgruening
parents:
diff changeset
1514 },
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bgruening
parents:
diff changeset
1515 {
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parents:
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1516 "gene": "CYP2C19",
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parents:
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1517 "chromosome": "chr10",
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bgruening
parents:
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1518 "position": 94781858,
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bgruening
parents:
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1519 "dbSnpId": "rs6413438",
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bgruening
parents:
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1520 "call": "C|C",
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bgruening
parents:
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1521 "alleles": [
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bgruening
parents:
diff changeset
1522 "*10"
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bgruening
parents:
diff changeset
1523 ],
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bgruening
parents:
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1524 "phased": false,
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parents:
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1525 "wildtypeAllele": "C",
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bgruening
parents:
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1526 "mismatch": false
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bgruening
parents:
diff changeset
1527 },
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bgruening
parents:
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1528 {
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parents:
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1529 "gene": "CYP2C19",
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parents:
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1530 "chromosome": "chr10",
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bgruening
parents:
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1531 "position": 94781859,
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bgruening
parents:
diff changeset
1532 "dbSnpId": "rs4244285",
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bgruening
parents:
diff changeset
1533 "call": "G|G",
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bgruening
parents:
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1534 "alleles": [
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bgruening
parents:
diff changeset
1535 "*2"
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bgruening
parents:
diff changeset
1536 ],
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bgruening
parents:
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1537 "phased": false,
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bgruening
parents:
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1538 "wildtypeAllele": "G",
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bgruening
parents:
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1539 "mismatch": false
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bgruening
parents:
diff changeset
1540 },
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bgruening
parents:
diff changeset
1541 {
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parents:
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1542 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1543 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1544 "position": 94781944,
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bgruening
parents:
diff changeset
1545 "dbSnpId": "rs375781227",
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bgruening
parents:
diff changeset
1546 "call": "G|G",
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bgruening
parents:
diff changeset
1547 "alleles": [
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bgruening
parents:
diff changeset
1548 "*26"
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bgruening
parents:
diff changeset
1549 ],
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bgruening
parents:
diff changeset
1550 "phased": false,
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bgruening
parents:
diff changeset
1551 "wildtypeAllele": "G",
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bgruening
parents:
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1552 "mismatch": false
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bgruening
parents:
diff changeset
1553 },
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bgruening
parents:
diff changeset
1554 {
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parents:
diff changeset
1555 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1556 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1557 "position": 94781999,
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bgruening
parents:
diff changeset
1558 "dbSnpId": "rs72558186",
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bgruening
parents:
diff changeset
1559 "call": "T|T",
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bgruening
parents:
diff changeset
1560 "alleles": [
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bgruening
parents:
diff changeset
1561 "*7"
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bgruening
parents:
diff changeset
1562 ],
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bgruening
parents:
diff changeset
1563 "phased": false,
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parents:
diff changeset
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parents:
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bgruening
parents:
diff changeset
1566 },
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bgruening
parents:
diff changeset
1567 {
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parents:
diff changeset
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parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
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bgruening
parents:
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
1575 ],
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bgruening
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bgruening
parents:
diff changeset
1579 },
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bgruening
parents:
diff changeset
1580 {
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parents:
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parents:
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bgruening
parents:
diff changeset
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bgruening
parents:
diff changeset
1585 "call": "A|A",
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bgruening
parents:
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1586 "alleles": [
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bgruening
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diff changeset
1587 "*2",
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bgruening
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diff changeset
1588 "*3",
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bgruening
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diff changeset
1589 "*4",
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diff changeset
1590 "*5",
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bgruening
parents:
diff changeset
1591 "*6",
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bgruening
parents:
diff changeset
1592 "*8",
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bgruening
parents:
diff changeset
1593 "*9",
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bgruening
parents:
diff changeset
1594 "*10",
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bgruening
parents:
diff changeset
1595 "*11",
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bgruening
parents:
diff changeset
1596 "*12",
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bgruening
parents:
diff changeset
1597 "*13",
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bgruening
parents:
diff changeset
1598 "*14",
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bgruening
parents:
diff changeset
1599 "*15",
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bgruening
parents:
diff changeset
1600 "*17",
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bgruening
parents:
diff changeset
1601 "*18",
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bgruening
parents:
diff changeset
1602 "*19",
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bgruening
parents:
diff changeset
1603 "*22",
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bgruening
parents:
diff changeset
1604 "*23",
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bgruening
parents:
diff changeset
1605 "*24",
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bgruening
parents:
diff changeset
1606 "*25",
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bgruening
parents:
diff changeset
1607 "*26",
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bgruening
parents:
diff changeset
1608 "*28",
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bgruening
parents:
diff changeset
1609 "*29",
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bgruening
parents:
diff changeset
1610 "*31",
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bgruening
parents:
diff changeset
1611 "*32",
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bgruening
parents:
diff changeset
1612 "*33",
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bgruening
parents:
diff changeset
1613 "*35",
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bgruening
parents:
diff changeset
1614 "*39"
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bgruening
parents:
diff changeset
1615 ],
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bgruening
parents:
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1616 "phased": false,
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bgruening
parents:
diff changeset
1617 "wildtypeAllele": "A",
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bgruening
parents:
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1618 "mismatch": false
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bgruening
parents:
diff changeset
1619 },
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bgruening
parents:
diff changeset
1620 {
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bgruening
parents:
diff changeset
1621 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1622 "chromosome": "chr10",
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bgruening
parents:
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1623 "position": 94842879,
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bgruening
parents:
diff changeset
1624 "dbSnpId": "rs118203757",
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bgruening
parents:
diff changeset
1625 "call": "G|G",
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bgruening
parents:
diff changeset
1626 "alleles": [
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bgruening
parents:
diff changeset
1627 "*24"
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bgruening
parents:
diff changeset
1628 ],
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bgruening
parents:
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1629 "phased": false,
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bgruening
parents:
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1630 "wildtypeAllele": "G",
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bgruening
parents:
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1631 "mismatch": false
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bgruening
parents:
diff changeset
1632 },
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bgruening
parents:
diff changeset
1633 {
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parents:
diff changeset
1634 "gene": "CYP2C19",
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bgruening
parents:
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1635 "chromosome": "chr10",
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bgruening
parents:
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1636 "position": 94842995,
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bgruening
parents:
diff changeset
1637 "dbSnpId": "rs113934938",
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bgruening
parents:
diff changeset
1638 "call": "G|G",
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bgruening
parents:
diff changeset
1639 "alleles": [
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bgruening
parents:
diff changeset
1640 "*28"
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bgruening
parents:
diff changeset
1641 ],
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bgruening
parents:
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1642 "phased": false,
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bgruening
parents:
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1643 "wildtypeAllele": "G",
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bgruening
parents:
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1644 "mismatch": false
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bgruening
parents:
diff changeset
1645 },
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bgruening
parents:
diff changeset
1646 {
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parents:
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1647 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1648 "chromosome": "chr10",
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bgruening
parents:
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1649 "position": 94849995,
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bgruening
parents:
diff changeset
1650 "dbSnpId": "rs17879685",
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bgruening
parents:
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1651 "call": "C|C",
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bgruening
parents:
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1652 "alleles": [
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bgruening
parents:
diff changeset
1653 "*13"
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bgruening
parents:
diff changeset
1654 ],
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bgruening
parents:
diff changeset
1655 "phased": false,
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bgruening
parents:
diff changeset
1656 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
1657 "mismatch": false
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bgruening
parents:
diff changeset
1658 },
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bgruening
parents:
diff changeset
1659 {
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bgruening
parents:
diff changeset
1660 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1661 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1662 "position": 94852738,
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bgruening
parents:
diff changeset
1663 "dbSnpId": "rs56337013",
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bgruening
parents:
diff changeset
1664 "call": "C|C",
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bgruening
parents:
diff changeset
1665 "alleles": [
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bgruening
parents:
diff changeset
1666 "*5"
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bgruening
parents:
diff changeset
1667 ],
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bgruening
parents:
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bgruening
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diff changeset
1669 "wildtypeAllele": "C",
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bgruening
parents:
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1670 "mismatch": false
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bgruening
parents:
diff changeset
1671 },
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bgruening
parents:
diff changeset
1672 {
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bgruening
parents:
diff changeset
1673 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1674 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1675 "position": 94852765,
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bgruening
parents:
diff changeset
1676 "dbSnpId": "rs192154563",
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bgruening
parents:
diff changeset
1677 "call": "C|C",
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bgruening
parents:
diff changeset
1678 "alleles": [
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bgruening
parents:
diff changeset
1679 "*16"
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bgruening
parents:
diff changeset
1680 ],
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bgruening
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1681 "phased": false,
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bgruening
parents:
diff changeset
1682 "wildtypeAllele": "C",
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bgruening
parents:
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1683 "mismatch": false
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bgruening
parents:
diff changeset
1684 },
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bgruening
parents:
diff changeset
1685 {
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bgruening
parents:
diff changeset
1686 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1687 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1688 "position": 94852785,
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bgruening
parents:
diff changeset
1689 "dbSnpId": "rs118203759",
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bgruening
parents:
diff changeset
1690 "call": "C|C",
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bgruening
parents:
diff changeset
1691 "alleles": [
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bgruening
parents:
diff changeset
1692 "*25"
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bgruening
parents:
diff changeset
1693 ],
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bgruening
parents:
diff changeset
1694 "phased": false,
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bgruening
parents:
diff changeset
1695 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
1696 "mismatch": false
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bgruening
parents:
diff changeset
1697 },
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bgruening
parents:
diff changeset
1698 {
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bgruening
parents:
diff changeset
1699 "gene": "CYP2C19",
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bgruening
parents:
diff changeset
1700 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1701 "position": 94852914,
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bgruening
parents:
diff changeset
1702 "dbSnpId": "rs55640102",
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bgruening
parents:
diff changeset
1703 "call": "A|A",
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bgruening
parents:
diff changeset
1704 "alleles": [
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bgruening
parents:
diff changeset
1705 "*12"
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bgruening
parents:
diff changeset
1706 ],
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bgruening
parents:
diff changeset
1707 "phased": false,
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bgruening
parents:
diff changeset
1708 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1709 "mismatch": false
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bgruening
parents:
diff changeset
1710 }
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bgruening
parents:
diff changeset
1711 ],
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bgruening
parents:
diff changeset
1712 "variantsOfInterest": [],
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bgruening
parents:
diff changeset
1713 "highlightedVariants": []
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bgruening
parents:
diff changeset
1714 },
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bgruening
parents:
diff changeset
1715 {
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bgruening
parents:
diff changeset
1716 "geneSymbol": "CYP2C9",
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bgruening
parents:
diff changeset
1717 "chr": "chr10",
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bgruening
parents:
diff changeset
1718 "phased": true,
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bgruening
parents:
diff changeset
1719 "callSource": "MATCHER",
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bgruening
parents:
diff changeset
1720 "uncalledHaplotypes": [
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bgruening
parents:
diff changeset
1721 "*72",
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bgruening
parents:
diff changeset
1722 "*73",
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bgruening
parents:
diff changeset
1723 "*74",
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bgruening
parents:
diff changeset
1724 "*75"
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bgruening
parents:
diff changeset
1725 ],
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bgruening
parents:
diff changeset
1726 "messages": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1727 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1728 "matcherDiplotypes": [
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bgruening
parents:
diff changeset
1729 {
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bgruening
parents:
diff changeset
1730 "allele1": {
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bgruening
parents:
diff changeset
1731 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1732 "name": "*1",
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bgruening
parents:
diff changeset
1733 "function": "Normal function",
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bgruening
parents:
diff changeset
1734 "reference": true
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bgruening
parents:
diff changeset
1735 },
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bgruening
parents:
diff changeset
1736 "allele2": {
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bgruening
parents:
diff changeset
1737 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1738 "name": "*1",
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bgruening
parents:
diff changeset
1739 "function": "Normal function",
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bgruening
parents:
diff changeset
1740 "reference": true
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bgruening
parents:
diff changeset
1741 },
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bgruening
parents:
diff changeset
1742 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1743 "phenotype": "Normal Metabolizer",
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bgruening
parents:
diff changeset
1744 "variant": null,
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bgruening
parents:
diff changeset
1745 "lookupKey": "2",
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bgruening
parents:
diff changeset
1746 "label": "*1/*1"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1747 }
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bgruening
parents:
diff changeset
1748 ],
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bgruening
parents:
diff changeset
1749 "diplotypes": [
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1750 {
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1751 "allele1": {
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1752 "gene": "CYP2C9",
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1753 "name": "*1",
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1754 "function": "Normal function",
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1756 },
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1757 "allele2": {
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1758 "gene": "CYP2C9",
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1759 "name": "*1",
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diff changeset
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bgruening
parents:
diff changeset
1762 },
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1763 "gene": "CYP2C9",
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bgruening
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diff changeset
1764 "phenotype": "Normal Metabolizer",
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1765 "variant": null,
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bgruening
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1767 "label": "*1/*1"
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bgruening
parents:
diff changeset
1768 }
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bgruening
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diff changeset
1769 ],
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bgruening
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diff changeset
1770 "variants": [
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bgruening
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1771 {
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1772 "gene": "CYP2C9",
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1773 "chromosome": "chr10",
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diff changeset
1775 "dbSnpId": "rs114071557",
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bgruening
parents:
diff changeset
1776 "call": "A|A",
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1777 "alleles": [
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bgruening
parents:
diff changeset
1778 "*36"
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bgruening
parents:
diff changeset
1779 ],
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bgruening
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1780 "phased": false,
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1781 "wildtypeAllele": "A",
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1782 "mismatch": false
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bgruening
parents:
diff changeset
1783 },
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bgruening
parents:
diff changeset
1784 {
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parents:
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1785 "gene": "CYP2C9",
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bgruening
parents:
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1786 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1788 "dbSnpId": "rs67807361",
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bgruening
parents:
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1789 "call": "C|C",
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bgruening
parents:
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1790 "alleles": [
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bgruening
parents:
diff changeset
1791 "*7"
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bgruening
parents:
diff changeset
1792 ],
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bgruening
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1793 "phased": false,
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bgruening
parents:
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1794 "wildtypeAllele": "C",
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bgruening
parents:
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1795 "mismatch": false
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bgruening
parents:
diff changeset
1796 },
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bgruening
parents:
diff changeset
1797 {
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bgruening
parents:
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1798 "gene": "CYP2C9",
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bgruening
parents:
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1799 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1800 "position": 94938771,
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bgruening
parents:
diff changeset
1801 "dbSnpId": "rs142240658",
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bgruening
parents:
diff changeset
1802 "call": "C|C",
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bgruening
parents:
diff changeset
1803 "alleles": [
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bgruening
parents:
diff changeset
1804 "*21"
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bgruening
parents:
diff changeset
1805 ],
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bgruening
parents:
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1806 "phased": false,
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bgruening
parents:
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1807 "wildtypeAllele": "C",
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bgruening
parents:
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1808 "mismatch": false
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bgruening
parents:
diff changeset
1809 },
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bgruening
parents:
diff changeset
1810 {
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parents:
diff changeset
1811 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1812 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1813 "position": 94938803,
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bgruening
parents:
diff changeset
1814 "dbSnpId": "rs2031308986",
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bgruening
parents:
diff changeset
1815 "call": "A|A",
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bgruening
parents:
diff changeset
1816 "alleles": [
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bgruening
parents:
diff changeset
1817 "*22"
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bgruening
parents:
diff changeset
1818 ],
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bgruening
parents:
diff changeset
1819 "phased": false,
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bgruening
parents:
diff changeset
1820 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1821 "mismatch": false
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bgruening
parents:
diff changeset
1822 },
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bgruening
parents:
diff changeset
1823 {
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bgruening
parents:
diff changeset
1824 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1825 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1826 "position": 94938828,
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bgruening
parents:
diff changeset
1827 "dbSnpId": "rs564813580",
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bgruening
parents:
diff changeset
1828 "call": "A|A",
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bgruening
parents:
diff changeset
1829 "alleles": [
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bgruening
parents:
diff changeset
1830 "*37"
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bgruening
parents:
diff changeset
1831 ],
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bgruening
parents:
diff changeset
1832 "phased": false,
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bgruening
parents:
diff changeset
1833 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
1834 "mismatch": false
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bgruening
parents:
diff changeset
1835 },
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bgruening
parents:
diff changeset
1836 {
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bgruening
parents:
diff changeset
1837 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1838 "chromosome": "chr10",
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bgruening
parents:
diff changeset
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bgruening
parents:
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1840 "dbSnpId": "rs371055887",
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parents:
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1841 "call": "G|G",
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parents:
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1842 "alleles": [
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parents:
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1844 ],
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1848 },
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bgruening
parents:
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1849 {
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1857 ],
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1861 },
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parents:
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bgruening
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1869 "*13"
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1870 ],
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parents:
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1874 },
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bgruening
parents:
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1875 {
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parents:
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parents:
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1880 "call": "G|G",
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bgruening
parents:
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1881 "alleles": [
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bgruening
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1882 "*38"
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bgruening
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1883 ],
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bgruening
parents:
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1887 },
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bgruening
parents:
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1888 {
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parents:
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parents:
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bgruening
parents:
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bgruening
parents:
diff changeset
1892 "dbSnpId": "rs762239445",
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bgruening
parents:
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1893 "call": "G|G",
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bgruening
parents:
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1894 "alleles": [
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bgruening
parents:
diff changeset
1895 "*39"
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bgruening
parents:
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1896 ],
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bgruening
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1898 "wildtypeAllele": "G",
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bgruening
parents:
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bgruening
parents:
diff changeset
1900 },
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bgruening
parents:
diff changeset
1901 {
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parents:
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parents:
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1903 "chromosome": "chr10",
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parents:
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bgruening
parents:
diff changeset
1905 "dbSnpId": null,
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bgruening
parents:
diff changeset
1906 "call": "T|T",
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bgruening
parents:
diff changeset
1907 "alleles": [
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bgruening
parents:
diff changeset
1908 "*40"
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bgruening
parents:
diff changeset
1909 ],
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bgruening
parents:
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parents:
diff changeset
1911 "wildtypeAllele": "T",
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parents:
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1912 "mismatch": false
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bgruening
parents:
diff changeset
1913 },
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bgruening
parents:
diff changeset
1914 {
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parents:
diff changeset
1915 "gene": "CYP2C9",
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bgruening
parents:
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1916 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1917 "position": 94942205,
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bgruening
parents:
diff changeset
1918 "dbSnpId": "rs1304490498",
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bgruening
parents:
diff changeset
1919 "call": "CAATGGAAAGA|CAATGGAAAGA",
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bgruening
parents:
diff changeset
1920 "alleles": [
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bgruening
parents:
diff changeset
1921 "*25"
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bgruening
parents:
diff changeset
1922 ],
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bgruening
parents:
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1923 "phased": false,
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bgruening
parents:
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1924 "wildtypeAllele": "CAATGGAAAGA",
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bgruening
parents:
diff changeset
1925 "mismatch": false
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bgruening
parents:
diff changeset
1926 },
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bgruening
parents:
diff changeset
1927 {
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bgruening
parents:
diff changeset
1928 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
1929 "chromosome": "chr10",
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bgruening
parents:
diff changeset
1930 "position": 94942216,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1931 "dbSnpId": "rs774607211",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1932 "call": "A|A",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1933 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1934 "*41"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1935 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1936 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1937 "wildtypeAllele": "A",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1938 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1939 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1940 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1941 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1942 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1943 "position": 94942230,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1944 "dbSnpId": "rs767576260",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1945 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1946 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1947 "*43"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1948 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1949 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1950 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1951 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1952 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1953 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1954 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1955 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1956 "position": 94942231,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1957 "dbSnpId": "rs12414460",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1958 "call": "G|G",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1959 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1960 "*42"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1961 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1962 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1963 "wildtypeAllele": "G",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1964 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1965 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1966 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1967 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1968 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1969 "position": 94942233,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1970 "dbSnpId": "rs375805362",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1971 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1972 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1973 "*62"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1974 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1975 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1976 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1977 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1978 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1979 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1980 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1981 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1982 "position": 94942234,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1983 "dbSnpId": "rs72558189",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1984 "call": "G|G",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1985 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1986 "*14",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1987 "*35"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1988 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1989 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1990 "wildtypeAllele": "G",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1991 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1992 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1993 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1994 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1995 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1996 "position": 94942249,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1997 "dbSnpId": "rs200965026",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1998 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
1999 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2000 "*26",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2001 "*44"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2002 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2003 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2004 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2005 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2006 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2007 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2008 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2009 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2010 "position": 94942254,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2011 "dbSnpId": "rs199523631",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2012 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2013 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2014 "*45"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2015 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2016 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2017 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2018 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2019 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2020 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2021 "gene": "CYP2C9",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2022 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
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2109 ],
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2113 },
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diff changeset
2207 "chromosome": "chr10",
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parents:
diff changeset
2210 "call": "A|A",
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2211 "alleles": [
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2213 "*71"
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2218 },
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2227 ],
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2240 ],
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2244 },
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2245 {
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2253 ],
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2257 },
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bgruening
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2258 {
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parents:
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bgruening
parents:
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2263 "call": "A|A",
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bgruening
parents:
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2264 "alleles": [
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2265 "*51"
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2266 ],
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2270 },
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parents:
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2271 {
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parents:
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bgruening
parents:
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2276 "call": "A|A",
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bgruening
parents:
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2277 "alleles": [
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2278 "*16"
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bgruening
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2279 ],
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parents:
diff changeset
2283 },
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parents:
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2284 {
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parents:
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bgruening
parents:
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2289 "call": "C|C",
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bgruening
parents:
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2290 "alleles": [
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bgruening
parents:
diff changeset
2291 "*52"
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bgruening
parents:
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2292 ],
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bgruening
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parents:
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2294 "wildtypeAllele": "C",
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parents:
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2295 "mismatch": false
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bgruening
parents:
diff changeset
2296 },
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bgruening
parents:
diff changeset
2297 {
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2330 "*31"
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2331 ],
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2335 },
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2343 "*11"
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2344 ],
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2348 },
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2354 "call": "G|G",
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2356 "*34"
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2357 ],
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2361 },
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2362 {
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2367 "call": "C|C",
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bgruening
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2368 "alleles": [
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parents:
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2369 "*58"
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2370 ],
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2374 },
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bgruening
parents:
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2375 {
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2379 "dbSnpId": "rs750820937",
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parents:
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2380 "call": "C|C",
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bgruening
parents:
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2381 "alleles": [
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diff changeset
2382 "*54"
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bgruening
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2383 ],
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bgruening
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2385 "wildtypeAllele": "C",
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2386 "mismatch": false
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bgruening
parents:
diff changeset
2387 },
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bgruening
parents:
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2388 {
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parents:
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2389 "gene": "CYP2C9",
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parents:
diff changeset
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parents:
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2396 ],
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2400 },
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2415 },
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2423 "*4"
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2424 ],
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2428 },
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2429 {
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2435 "alleles": [
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2436 "*5"
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2437 ],
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2441 },
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parents:
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2442 {
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2447 "call": "C|C",
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2448 "alleles": [
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2449 "*55"
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2450 ],
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parents:
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2454 },
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parents:
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2455 {
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2460 "call": "C|C",
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bgruening
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2461 "alleles": [
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2462 "*66"
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2463 ],
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2467 },
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bgruening
parents:
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2468 {
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parents:
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2472 "dbSnpId": null,
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parents:
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2473 "call": "C|C",
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bgruening
parents:
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2474 "alleles": [
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parents:
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2475 "*17"
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bgruening
parents:
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2476 ],
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bgruening
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parents:
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2478 "wildtypeAllele": "C",
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parents:
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2479 "mismatch": false
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bgruening
parents:
diff changeset
2480 },
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2606 ],
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2624 },
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2633 ],
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2646 ],
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2650 },
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2658 "*73"
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2659 ],
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parents:
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2663 },
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bgruening
parents:
diff changeset
2664 {
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bgruening
parents:
diff changeset
2665 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
2666 "chromosome": "chr10",
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bgruening
parents:
diff changeset
2667 "position": 94947439,
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bgruening
parents:
diff changeset
2668 "dbSnpId": null,
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bgruening
parents:
diff changeset
2669 "call": null,
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bgruening
parents:
diff changeset
2670 "alleles": [
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bgruening
parents:
diff changeset
2671 "*74"
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bgruening
parents:
diff changeset
2672 ],
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bgruening
parents:
diff changeset
2673 "phased": false,
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bgruening
parents:
diff changeset
2674 "wildtypeAllele": "G",
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bgruening
parents:
diff changeset
2675 "mismatch": false
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bgruening
parents:
diff changeset
2676 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2677 {
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bgruening
parents:
diff changeset
2678 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
2679 "chromosome": "chr10",
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bgruening
parents:
diff changeset
2680 "position": 94986136,
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bgruening
parents:
diff changeset
2681 "dbSnpId": "rs1254213342",
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bgruening
parents:
diff changeset
2682 "call": null,
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bgruening
parents:
diff changeset
2683 "alleles": [
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bgruening
parents:
diff changeset
2684 "*75"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2685 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2686 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2687 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
2688 "mismatch": false
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bgruening
parents:
diff changeset
2689 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2690 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2691 "variantsOfInterest": [
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bgruening
parents:
diff changeset
2692 {
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bgruening
parents:
diff changeset
2693 "gene": "CYP2C9",
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bgruening
parents:
diff changeset
2694 "chromosome": "chr10",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2695 "position": 94645745,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2696 "dbSnpId": "rs12777823",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2697 "call": "G|G",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2698 "alleles": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2699 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2700 "wildtypeAllele": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2701 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2702 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2703 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2704 "highlightedVariants": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2705 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2706 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2707 "geneSymbol": "CYP3A5",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2708 "chr": "chr7",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2709 "phased": true,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2710 "callSource": "MATCHER",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2711 "uncalledHaplotypes": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2712 "messages": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2713 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2714 "rule_name": "CYP3A5 reverse complement footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2715 "version": "1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2716 "matches": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2717 "gene": "CYP3A5",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2718 "hapsCalled": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2719 "hapsMissing": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2720 "variantsMissing": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2721 "variant": "",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2722 "dips": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2723 "drugs": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2724 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2725 "exception_type": "footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2726 "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."
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2727 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2728 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2729 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2730 "matcherDiplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2731 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2732 "allele1": {
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bgruening
parents:
diff changeset
2733 "gene": "CYP3A5",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2734 "name": "*1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2735 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2736 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2737 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2738 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2739 "gene": "CYP3A5",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2740 "name": "*1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2741 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2742 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2743 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2744 "gene": "CYP3A5",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2745 "phenotype": "Normal Metabolizer",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2746 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2747 "lookupKey": "Normal Metabolizer",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2748 "label": "*1/*1"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2749 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2750 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2751 "diplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2752 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2753 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2754 "gene": "CYP3A5",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
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2755 "name": "*1",
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parents:
diff changeset
2756 "function": "Normal function",
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parents:
diff changeset
2758 },
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2759 "allele2": {
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2764 },
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diff changeset
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diff changeset
2766 "phenotype": "Normal Metabolizer",
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2768 "lookupKey": "Normal Metabolizer",
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2770 }
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2771 ],
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2778 "call": "G|G",
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2781 "*3"
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2782 ],
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2786 },
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2787 {
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2794 "*7"
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2795 ],
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2799 },
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bgruening
parents:
diff changeset
2800 {
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2801 "gene": "CYP3A5",
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parents:
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2802 "chromosome": "chr7",
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parents:
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2804 "dbSnpId": "rs28383479",
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bgruening
parents:
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2805 "call": "C|C",
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bgruening
parents:
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2806 "alleles": [
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2807 "*3",
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2808 "*9"
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bgruening
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2809 ],
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parents:
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bgruening
parents:
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2813 },
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bgruening
parents:
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2814 {
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parents:
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2815 "gene": "CYP3A5",
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parents:
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parents:
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bgruening
parents:
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2818 "dbSnpId": "rs10264272",
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bgruening
parents:
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2819 "call": "C|C",
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bgruening
parents:
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2820 "alleles": [
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bgruening
parents:
diff changeset
2821 "*6"
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bgruening
parents:
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2822 ],
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bgruening
parents:
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2823 "phased": false,
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parents:
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2824 "wildtypeAllele": "C",
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parents:
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2825 "mismatch": false
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bgruening
parents:
diff changeset
2826 },
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bgruening
parents:
diff changeset
2827 {
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parents:
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2828 "gene": "CYP3A5",
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parents:
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2829 "chromosome": "chr7",
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parents:
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bgruening
parents:
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2831 "dbSnpId": "rs56411402",
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bgruening
parents:
diff changeset
2832 "call": "T|T",
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bgruening
parents:
diff changeset
2833 "alleles": [
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bgruening
parents:
diff changeset
2834 "*3",
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bgruening
parents:
diff changeset
2835 "*4"
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bgruening
parents:
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2836 ],
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bgruening
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2837 "phased": false,
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bgruening
parents:
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2838 "wildtypeAllele": "T",
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bgruening
parents:
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2839 "mismatch": false
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bgruening
parents:
diff changeset
2840 },
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bgruening
parents:
diff changeset
2841 {
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bgruening
parents:
diff changeset
2842 "gene": "CYP3A5",
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bgruening
parents:
diff changeset
2843 "chromosome": "chr7",
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bgruening
parents:
diff changeset
2844 "position": 99666950,
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bgruening
parents:
diff changeset
2845 "dbSnpId": "rs55965422",
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bgruening
parents:
diff changeset
2846 "call": "A|A",
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bgruening
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2847 "alleles": [
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2848 "*3",
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2849 "*5"
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2850 ],
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2853 "mismatch": false
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2854 },
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bgruening
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2855 {
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2856 "gene": "CYP3A5",
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2859 "dbSnpId": "rs776746",
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bgruening
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bgruening
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2862 "*3"
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bgruening
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2863 ],
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bgruening
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2867 },
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bgruening
parents:
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2868 {
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bgruening
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bgruening
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2873 "call": "G|G",
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bgruening
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2874 "alleles": [
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bgruening
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2875 "*8"
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bgruening
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2876 ],
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bgruening
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2878 "wildtypeAllele": "G",
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2879 "mismatch": false
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bgruening
parents:
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2880 }
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bgruening
parents:
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2881 ],
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bgruening
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2882 "variantsOfInterest": [],
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bgruening
parents:
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2883 "highlightedVariants": []
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bgruening
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2884 },
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bgruening
parents:
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2885 {
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2886 "geneSymbol": "CYP4F2",
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bgruening
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2887 "chr": "chr19",
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bgruening
parents:
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2889 "callSource": "MATCHER",
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bgruening
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2890 "uncalledHaplotypes": [],
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bgruening
parents:
diff changeset
2891 "messages": [],
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bgruening
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diff changeset
2892 "relatedDrugs": [],
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bgruening
parents:
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2893 "matcherDiplotypes": [
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bgruening
parents:
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2894 {
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2895 "allele1": {
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2896 "gene": "CYP4F2",
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bgruening
parents:
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2897 "name": "*1",
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bgruening
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2898 "function": null,
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bgruening
parents:
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2899 "reference": true
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bgruening
parents:
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2900 },
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bgruening
parents:
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2901 "allele2": {
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bgruening
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2902 "gene": "CYP4F2",
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parents:
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2903 "name": "*1",
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bgruening
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2904 "function": null,
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bgruening
parents:
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2905 "reference": true
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bgruening
parents:
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2906 },
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bgruening
parents:
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2907 "gene": "CYP4F2",
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bgruening
parents:
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2908 "phenotype": null,
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bgruening
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2909 "variant": null,
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bgruening
parents:
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2910 "lookupKey": null,
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bgruening
parents:
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2911 "label": "*1/*1"
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bgruening
parents:
diff changeset
2912 }
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bgruening
parents:
diff changeset
2913 ],
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bgruening
parents:
diff changeset
2914 "diplotypes": [
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bgruening
parents:
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2915 {
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parents:
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2916 "allele1": {
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2917 "gene": "CYP4F2",
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parents:
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2918 "name": "*1",
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2919 "function": null,
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bgruening
parents:
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2920 "reference": true
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bgruening
parents:
diff changeset
2921 },
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bgruening
parents:
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2922 "allele2": {
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bgruening
parents:
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2923 "gene": "CYP4F2",
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bgruening
parents:
diff changeset
2924 "name": "*1",
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bgruening
parents:
diff changeset
2925 "function": null,
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bgruening
parents:
diff changeset
2926 "reference": true
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bgruening
parents:
diff changeset
2927 },
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bgruening
parents:
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2928 "gene": "CYP4F2",
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bgruening
parents:
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2929 "phenotype": null,
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bgruening
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2930 "variant": null,
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bgruening
parents:
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2931 "lookupKey": null,
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bgruening
parents:
diff changeset
2932 "label": "*1/*1"
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bgruening
parents:
diff changeset
2933 }
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bgruening
parents:
diff changeset
2934 ],
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bgruening
parents:
diff changeset
2935 "variants": [
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bgruening
parents:
diff changeset
2936 {
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2937 "gene": "CYP4F2",
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bgruening
parents:
diff changeset
2938 "chromosome": "chr19",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2939 "position": 15879621,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2940 "dbSnpId": "rs2108622",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2941 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2942 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2943 "*3"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2944 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2945 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2946 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2947 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2948 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2949 {
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bgruening
parents:
diff changeset
2950 "gene": "CYP4F2",
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bgruening
parents:
diff changeset
2951 "chromosome": "chr19",
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bgruening
parents:
diff changeset
2952 "position": 15897578,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2953 "dbSnpId": "rs3093105",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2954 "call": "A|A",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2955 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2956 "*2"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2957 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2958 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2959 "wildtypeAllele": "A",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2960 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2961 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2962 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2963 "variantsOfInterest": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2964 "highlightedVariants": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2965 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2966 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2967 "geneSymbol": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2968 "chr": "chr1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2969 "phased": true,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2970 "callSource": "MATCHER",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2971 "uncalledHaplotypes": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2972 "messages": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2973 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2974 "rule_name": "DPYD reverse complement footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2975 "version": "1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2976 "matches": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2977 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2978 "hapsCalled": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2979 "hapsMissing": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2980 "variantsMissing": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2981 "variant": "",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2982 "dips": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2983 "drugs": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2984 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2985 "exception_type": "footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2986 "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."
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2987 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2988 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2989 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2990 "matcherDiplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2991 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2992 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2993 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2994 "name": "Reference",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2995 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2996 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2997 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2998 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
2999 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3000 "name": "Reference",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3001 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3002 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3003 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3004 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3005 "phenotype": "Normal Metabolizer",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3006 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3007 "lookupKey": "2",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3008 "label": "Reference/Reference"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3009 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3010 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3011 "diplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3012 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3013 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3014 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3015 "name": "Reference",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3016 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3017 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3018 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3019 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3020 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3021 "name": "Reference",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3022 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3023 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3024 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3025 "gene": "DPYD",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3026 "phenotype": "Normal Metabolizer",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3027 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3028 "lookupKey": "2",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
3029 "label": "Reference/Reference"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
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4111 }
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diff changeset
4122 "messages": [
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bgruening
parents:
diff changeset
4123 {
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bgruening
parents:
diff changeset
4124 "rule_name": "IFNL3 reverse complement footnote",
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bgruening
parents:
diff changeset
4125 "version": "1",
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bgruening
parents:
diff changeset
4126 "matches": {
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bgruening
parents:
diff changeset
4127 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4128 "hapsCalled": [],
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bgruening
parents:
diff changeset
4129 "hapsMissing": [],
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bgruening
parents:
diff changeset
4130 "variantsMissing": [],
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bgruening
parents:
diff changeset
4131 "variant": "",
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bgruening
parents:
diff changeset
4132 "dips": [],
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bgruening
parents:
diff changeset
4133 "drugs": []
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bgruening
parents:
diff changeset
4134 },
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bgruening
parents:
diff changeset
4135 "exception_type": "footnote",
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bgruening
parents:
diff changeset
4136 "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."
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bgruening
parents:
diff changeset
4137 }
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bgruening
parents:
diff changeset
4138 ],
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bgruening
parents:
diff changeset
4139 "relatedDrugs": [],
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bgruening
parents:
diff changeset
4140 "matcherDiplotypes": [
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bgruening
parents:
diff changeset
4141 {
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bgruening
parents:
diff changeset
4142 "allele1": {
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bgruening
parents:
diff changeset
4143 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4144 "name": "rs12979860 reference (C)",
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bgruening
parents:
diff changeset
4145 "function": null,
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bgruening
parents:
diff changeset
4146 "reference": true
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bgruening
parents:
diff changeset
4147 },
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bgruening
parents:
diff changeset
4148 "allele2": {
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bgruening
parents:
diff changeset
4149 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4150 "name": "rs12979860 reference (C)",
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bgruening
parents:
diff changeset
4151 "function": null,
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bgruening
parents:
diff changeset
4152 "reference": true
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bgruening
parents:
diff changeset
4153 },
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bgruening
parents:
diff changeset
4154 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4155 "phenotype": null,
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bgruening
parents:
diff changeset
4156 "variant": null,
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bgruening
parents:
diff changeset
4157 "lookupKey": null,
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bgruening
parents:
diff changeset
4158 "label": "rs12979860 reference (C)/rs12979860 reference (C)"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4159 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4160 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4161 "diplotypes": [
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bgruening
parents:
diff changeset
4162 {
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bgruening
parents:
diff changeset
4163 "allele1": {
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bgruening
parents:
diff changeset
4164 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4165 "name": "rs12979860 reference (C)",
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bgruening
parents:
diff changeset
4166 "function": null,
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bgruening
parents:
diff changeset
4167 "reference": true
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bgruening
parents:
diff changeset
4168 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4169 "allele2": {
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bgruening
parents:
diff changeset
4170 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4171 "name": "rs12979860 reference (C)",
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bgruening
parents:
diff changeset
4172 "function": null,
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bgruening
parents:
diff changeset
4173 "reference": true
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bgruening
parents:
diff changeset
4174 },
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bgruening
parents:
diff changeset
4175 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4176 "phenotype": null,
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bgruening
parents:
diff changeset
4177 "variant": null,
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bgruening
parents:
diff changeset
4178 "lookupKey": null,
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bgruening
parents:
diff changeset
4179 "label": "rs12979860 reference (C)/rs12979860 reference (C)"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4180 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4181 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4182 "variants": [
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bgruening
parents:
diff changeset
4183 {
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bgruening
parents:
diff changeset
4184 "gene": "IFNL3",
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bgruening
parents:
diff changeset
4185 "chromosome": "chr19",
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bgruening
parents:
diff changeset
4186 "position": 39248147,
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bgruening
parents:
diff changeset
4187 "dbSnpId": "rs12979860",
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bgruening
parents:
diff changeset
4188 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4189 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4190 "rs12979860 variant (T)"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4191 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4192 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4193 "wildtypeAllele": "C",
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bgruening
parents:
diff changeset
4194 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4195 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4196 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4197 "variantsOfInterest": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4198 "highlightedVariants": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4199 },
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bgruening
parents:
diff changeset
4200 {
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bgruening
parents:
diff changeset
4201 "geneSymbol": "NUDT15",
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bgruening
parents:
diff changeset
4202 "chr": "chr13",
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bgruening
parents:
diff changeset
4203 "phased": true,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4204 "callSource": "MATCHER",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4205 "uncalledHaplotypes": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4206 "messages": [],
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bgruening
parents:
diff changeset
4207 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
4208 "matcherDiplotypes": [
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bgruening
parents:
diff changeset
4209 {
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bgruening
parents:
diff changeset
4210 "allele1": {
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bgruening
parents:
diff changeset
4211 "gene": "NUDT15",
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bgruening
parents:
diff changeset
4212 "name": "*1",
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bgruening
parents:
diff changeset
4213 "function": "Normal Function",
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4248 }
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4259 ],
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4263 },
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4271 "*19"
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4276 },
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diff changeset
4284 "*2",
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4285 "*6",
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4286 "*9"
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4287 ],
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4291 },
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bgruening
parents:
diff changeset
4292 {
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bgruening
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parents:
diff changeset
4299 "*5"
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bgruening
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4300 ],
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4302 "wildtypeAllele": "G",
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bgruening
parents:
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4304 },
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bgruening
parents:
diff changeset
4305 {
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4356 },
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bgruening
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4364 "*11"
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4369 },
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4377 "*12"
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4378 ],
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4382 },
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4390 "*18"
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4391 ],
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parents:
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4395 },
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bgruening
parents:
diff changeset
4396 {
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4397 "gene": "NUDT15",
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diff changeset
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diff changeset
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parents:
diff changeset
4401 "call": "T|T",
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diff changeset
4403 "*13"
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4404 ],
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4408 },
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bgruening
parents:
diff changeset
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4417 ],
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4421 },
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4427 "call": "C|C",
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4429 "*20"
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4430 ],
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4434 },
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4435 {
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4442 "*2",
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4443 "*3"
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4444 ],
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4446 "wildtypeAllele": "C",
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bgruening
parents:
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4448 },
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bgruening
parents:
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4449 {
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4450 "gene": "NUDT15",
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bgruening
parents:
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4454 "call": "G|G",
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bgruening
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4455 "alleles": [
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4456 "*4"
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4457 ],
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bgruening
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4459 "wildtypeAllele": "G",
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4460 "mismatch": false
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parents:
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4461 },
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bgruening
parents:
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4462 {
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parents:
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4463 "gene": "NUDT15",
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parents:
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4464 "chromosome": "chr13",
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bgruening
parents:
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bgruening
parents:
diff changeset
4466 "dbSnpId": "rs139551410",
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bgruening
parents:
diff changeset
4467 "call": "T|T",
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bgruening
parents:
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4468 "alleles": [
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bgruening
parents:
diff changeset
4469 "*15"
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bgruening
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4470 ],
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4472 "wildtypeAllele": "T",
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parents:
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4473 "mismatch": false
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bgruening
parents:
diff changeset
4474 }
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bgruening
parents:
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4475 ],
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bgruening
parents:
diff changeset
4476 "variantsOfInterest": [],
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bgruening
parents:
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4477 "highlightedVariants": []
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bgruening
parents:
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4478 },
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bgruening
parents:
diff changeset
4479 {
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parents:
diff changeset
4480 "geneSymbol": "RYR1",
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parents:
diff changeset
4481 "chr": "chr19",
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diff changeset
4482 "phased": true,
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bgruening
parents:
diff changeset
4483 "callSource": "MATCHER",
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bgruening
parents:
diff changeset
4484 "uncalledHaplotypes": [],
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bgruening
parents:
diff changeset
4485 "messages": [],
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bgruening
parents:
diff changeset
4486 "relatedDrugs": [],
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bgruening
parents:
diff changeset
4487 "matcherDiplotypes": [
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bgruening
parents:
diff changeset
4488 {
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bgruening
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5488 ],
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5492 },
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5583 },
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parents:
diff changeset
5586 "chromosome": "chr12",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5587 "position": 21206031,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5588 "dbSnpId": "rs74064213",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5589 "call": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5590 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5591 "*43",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5592 "*44"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5593 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5594 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5595 "wildtypeAllele": "A",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5596 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5597 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5598 {
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bgruening
parents:
diff changeset
5599 "gene": "SLCO1B1",
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bgruening
parents:
diff changeset
5600 "chromosome": "chr12",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5601 "position": 21222355,
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bgruening
parents:
diff changeset
5602 "dbSnpId": "rs71581941",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5603 "call": null,
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bgruening
parents:
diff changeset
5604 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5605 "*45",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5606 "*46"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5607 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5608 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5609 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5610 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5611 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5612 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5613 "variantsOfInterest": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5614 "highlightedVariants": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5615 "rs4149056T/rs4149056T"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5616 ]
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5617 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5618 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5619 "geneSymbol": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5620 "chr": "chr6",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5621 "phased": true,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5622 "callSource": "MATCHER",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5623 "uncalledHaplotypes": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5624 "messages": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5625 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5626 "rule_name": "TPMT reverse complement footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5627 "version": "1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5628 "matches": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5629 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5630 "hapsCalled": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5631 "hapsMissing": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5632 "variantsMissing": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5633 "variant": "",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5634 "dips": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5635 "drugs": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5636 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5637 "exception_type": "footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5638 "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."
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5639 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5640 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5641 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5642 "matcherDiplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5643 {
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bgruening
parents:
diff changeset
5644 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5645 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5646 "name": "*1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5647 "function": "Normal Function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5648 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5649 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5650 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5651 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5652 "name": "*1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5653 "function": "Normal Function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5654 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5655 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5656 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5657 "phenotype": "Normal Metabolizer",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5658 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5659 "lookupKey": "Normal Metabolizer",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5660 "label": "*1/*1"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5661 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5662 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5663 "diplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5664 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5665 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5666 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5667 "name": "*1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5668 "function": "Normal Function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5669 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5670 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5671 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5672 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5673 "name": "*1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5674 "function": "Normal Function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5675 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5676 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5677 "gene": "TPMT",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
5678 "phenotype": "Normal Metabolizer",
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diff changeset
5679 "variant": null,
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bgruening
parents:
diff changeset
5680 "lookupKey": "Normal Metabolizer",
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5681 "label": "*1/*1"
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bgruening
parents:
diff changeset
5682 }
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bgruening
parents:
diff changeset
5683 ],
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diff changeset
5692 "*3A",
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5693 "*3C",
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5695 ],
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5699 },
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5700 {
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5707 "*20"
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bgruening
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5708 ],
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parents:
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5712 },
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bgruening
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5713 {
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5714 "gene": "TPMT",
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parents:
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bgruening
parents:
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5718 "call": "A|A",
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bgruening
parents:
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5719 "alleles": [
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5720 "*7"
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bgruening
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5721 ],
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5723 "wildtypeAllele": "A",
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bgruening
parents:
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5725 },
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bgruening
parents:
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5726 {
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parents:
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5727 "gene": "TPMT",
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5728 "chromosome": "chr6",
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bgruening
parents:
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5730 "dbSnpId": "rs139392616",
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bgruening
parents:
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5731 "call": "C|C",
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bgruening
parents:
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5732 "alleles": [
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parents:
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5733 "*40"
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bgruening
parents:
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5734 ],
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5736 "wildtypeAllele": "C",
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5737 "mismatch": false
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bgruening
parents:
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5738 },
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bgruening
parents:
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5739 {
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parents:
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5740 "gene": "TPMT",
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parents:
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5741 "chromosome": "chr6",
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bgruening
parents:
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5743 "dbSnpId": "rs398122996",
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bgruening
parents:
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5744 "call": "A|A",
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bgruening
parents:
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5745 "alleles": [
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bgruening
parents:
diff changeset
5746 "*37"
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bgruening
parents:
diff changeset
5747 ],
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bgruening
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5748 "phased": false,
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5749 "wildtypeAllele": "A",
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5750 "mismatch": false
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bgruening
parents:
diff changeset
5751 },
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bgruening
parents:
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5752 {
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parents:
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parents:
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bgruening
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bgruening
parents:
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5757 "call": "C|C",
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bgruening
parents:
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5758 "alleles": [
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5759 "*8"
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bgruening
parents:
diff changeset
5760 ],
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5762 "wildtypeAllele": "C",
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5763 "mismatch": false
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bgruening
parents:
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5764 },
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bgruening
parents:
diff changeset
5765 {
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parents:
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5766 "gene": "TPMT",
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parents:
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5767 "chromosome": "chr6",
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bgruening
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bgruening
parents:
diff changeset
5769 "dbSnpId": "rs377085266",
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bgruening
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5842 },
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5850 "*24"
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5851 ],
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5855 },
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bgruening
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5934 },
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5944 ],
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5948 },
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diff changeset
6230 ],
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bgruening
parents:
diff changeset
6231 "phased": false,
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bgruening
parents:
diff changeset
6232 "wildtypeAllele": "A",
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bgruening
parents:
diff changeset
6233 "mismatch": false
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bgruening
parents:
diff changeset
6234 },
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bgruening
parents:
diff changeset
6235 {
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bgruening
parents:
diff changeset
6236 "gene": "TPMT",
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bgruening
parents:
diff changeset
6237 "chromosome": "chr6",
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bgruening
parents:
diff changeset
6238 "position": 18149127,
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bgruening
parents:
diff changeset
6239 "dbSnpId": "rs9333569",
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bgruening
parents:
diff changeset
6240 "call": "T|T",
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bgruening
parents:
diff changeset
6241 "alleles": [
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bgruening
parents:
diff changeset
6242 "*14"
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bgruening
parents:
diff changeset
6243 ],
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bgruening
parents:
diff changeset
6244 "phased": false,
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bgruening
parents:
diff changeset
6245 "wildtypeAllele": "T",
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bgruening
parents:
diff changeset
6246 "mismatch": false
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bgruening
parents:
diff changeset
6247 }
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bgruening
parents:
diff changeset
6248 ],
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bgruening
parents:
diff changeset
6249 "variantsOfInterest": [],
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bgruening
parents:
diff changeset
6250 "highlightedVariants": []
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bgruening
parents:
diff changeset
6251 },
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bgruening
parents:
diff changeset
6252 {
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bgruening
parents:
diff changeset
6253 "geneSymbol": "UGT1A1",
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bgruening
parents:
diff changeset
6254 "chr": "chr2",
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bgruening
parents:
diff changeset
6255 "phased": true,
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bgruening
parents:
diff changeset
6256 "callSource": "MATCHER",
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bgruening
parents:
diff changeset
6257 "uncalledHaplotypes": [],
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bgruening
parents:
diff changeset
6258 "messages": [
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bgruening
parents:
diff changeset
6259 {
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bgruening
parents:
diff changeset
6260 "rule_name": "UGT1A1 repeat warning",
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bgruening
parents:
diff changeset
6261 "version": "1",
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bgruening
parents:
diff changeset
6262 "matches": {
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bgruening
parents:
diff changeset
6263 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6264 "hapsCalled": [],
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bgruening
parents:
diff changeset
6265 "hapsMissing": [],
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bgruening
parents:
diff changeset
6266 "variantsMissing": [],
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bgruening
parents:
diff changeset
6267 "variant": "",
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bgruening
parents:
diff changeset
6268 "dips": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6269 "drugs": []
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bgruening
parents:
diff changeset
6270 },
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bgruening
parents:
diff changeset
6271 "exception_type": "footnote",
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bgruening
parents:
diff changeset
6272 "message": "Some alleles in UGT1A1 are distinguished by a repeat sequence; some genotyping technologies may not accurately call the repeat."
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bgruening
parents:
diff changeset
6273 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6274 ],
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bgruening
parents:
diff changeset
6275 "relatedDrugs": [],
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bgruening
parents:
diff changeset
6276 "matcherDiplotypes": [
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bgruening
parents:
diff changeset
6277 {
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bgruening
parents:
diff changeset
6278 "allele1": {
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bgruening
parents:
diff changeset
6279 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6280 "name": "*1",
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bgruening
parents:
diff changeset
6281 "function": "Normal function",
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bgruening
parents:
diff changeset
6282 "reference": true
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bgruening
parents:
diff changeset
6283 },
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bgruening
parents:
diff changeset
6284 "allele2": {
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bgruening
parents:
diff changeset
6285 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6286 "name": "*1",
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bgruening
parents:
diff changeset
6287 "function": "Normal function",
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bgruening
parents:
diff changeset
6288 "reference": true
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bgruening
parents:
diff changeset
6289 },
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bgruening
parents:
diff changeset
6290 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6291 "phenotype": "Normal Metabolizer",
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bgruening
parents:
diff changeset
6292 "variant": null,
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bgruening
parents:
diff changeset
6293 "lookupKey": "Normal Metabolizer",
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bgruening
parents:
diff changeset
6294 "label": "*1/*1"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6295 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6296 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6297 "diplotypes": [
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bgruening
parents:
diff changeset
6298 {
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bgruening
parents:
diff changeset
6299 "allele1": {
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bgruening
parents:
diff changeset
6300 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6301 "name": "*1",
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bgruening
parents:
diff changeset
6302 "function": "Normal function",
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bgruening
parents:
diff changeset
6303 "reference": true
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bgruening
parents:
diff changeset
6304 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6305 "allele2": {
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bgruening
parents:
diff changeset
6306 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6307 "name": "*1",
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bgruening
parents:
diff changeset
6308 "function": "Normal function",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6309 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6310 },
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bgruening
parents:
diff changeset
6311 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6312 "phenotype": "Normal Metabolizer",
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bgruening
parents:
diff changeset
6313 "variant": null,
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bgruening
parents:
diff changeset
6314 "lookupKey": "Normal Metabolizer",
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bgruening
parents:
diff changeset
6315 "label": "*1/*1"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6316 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6317 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6318 "variants": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6319 {
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bgruening
parents:
diff changeset
6320 "gene": "UGT1A1",
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bgruening
parents:
diff changeset
6321 "chromosome": "chr2",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
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6376 }
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bgruening
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6380 },
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6381 {
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6399 },
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6411 "variant": "",
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parents:
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6412 "dips": [],
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bgruening
parents:
diff changeset
6413 "drugs": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6414 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6415 "exception_type": "footnote",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6416 "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."
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6417 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6418 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6419 "relatedDrugs": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6420 "matcherDiplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6421 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6422 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6423 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6424 "name": "rs9923231 reference (C)",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6425 "function": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6426 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6427 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6428 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6429 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6430 "name": "rs9923231 reference (C)",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6431 "function": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6432 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6433 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6434 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6435 "phenotype": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6436 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6437 "lookupKey": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6438 "label": "rs9923231 reference (C)/rs9923231 reference (C)"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6439 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6440 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6441 "diplotypes": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6442 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6443 "allele1": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6444 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6445 "name": "rs9923231 reference (C)",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6446 "function": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6447 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6448 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6449 "allele2": {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6450 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6451 "name": "rs9923231 reference (C)",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6452 "function": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6453 "reference": true
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6454 },
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6455 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6456 "phenotype": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6457 "variant": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6458 "lookupKey": null,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6459 "label": "rs9923231 reference (C)/rs9923231 reference (C)"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6460 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6461 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6462 "variants": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6463 {
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6464 "gene": "VKORC1",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6465 "chromosome": "chr16",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6466 "position": 31096368,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6467 "dbSnpId": "rs9923231",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6468 "call": "C|C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6469 "alleles": [
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6470 "rs9923231 variant (T)"
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6471 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6472 "phased": false,
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6473 "wildtypeAllele": "C",
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6474 "mismatch": false
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6475 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6476 ],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6477 "variantsOfInterest": [],
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6478 "highlightedVariants": []
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6479 }
d67642a21a1d "planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
bgruening
parents:
diff changeset
6480 ]