2
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1 {
|
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2 "qc": {
|
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3 "pct_reads_mapped": 99.47,
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4 "num_reads_mapped": 1731409,
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5 "median_coverage": 84,
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6 "gene_coverage": [
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7 {
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8 "fraction": 0.0,
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9 "cutoff": 0,
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10 "locus_tag": "Rv0005",
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11 "gene": "gyrB"
|
|
12 },
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13 {
|
|
14 "fraction": 0.0,
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15 "cutoff": 0,
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16 "locus_tag": "Rv0006",
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17 "gene": "gyrA"
|
|
18 },
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19 {
|
|
20 "fraction": 0.0,
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21 "cutoff": 0,
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22 "locus_tag": "Rv0407",
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23 "gene": "fgd1"
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24 },
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25 {
|
|
26 "fraction": 0.0,
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27 "cutoff": 0,
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28 "locus_tag": "Rv0486",
|
|
29 "gene": "mshA"
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|
30 },
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31 {
|
|
32 "fraction": 0.0,
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33 "cutoff": 0,
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34 "locus_tag": "Rv0667",
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35 "gene": "rpoB"
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36 },
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37 {
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38 "fraction": 0.0,
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39 "cutoff": 0,
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40 "locus_tag": "Rv0668",
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41 "gene": "rpoC"
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42 },
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43 {
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44 "fraction": 0.0,
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45 "cutoff": 0,
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46 "locus_tag": "Rv0678",
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47 "gene": "mmpR5"
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48 },
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49 {
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|
50 "fraction": 0.0,
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51 "cutoff": 0,
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52 "locus_tag": "Rv0682",
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53 "gene": "rpsL"
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|
54 },
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55 {
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|
56 "fraction": 0.0,
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57 "cutoff": 0,
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58 "locus_tag": "Rv0701",
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59 "gene": "rplC"
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|
60 },
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61 {
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62 "fraction": 0.0,
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63 "cutoff": 0,
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64 "locus_tag": "Rv1173",
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65 "gene": "fbiC"
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|
66 },
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67 {
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68 "fraction": 0.0,
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69 "cutoff": 0,
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70 "locus_tag": "Rv1267c",
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|
71 "gene": "embR"
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72 },
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73 {
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74 "fraction": 0.0,
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75 "cutoff": 0,
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76 "locus_tag": "Rv1305",
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77 "gene": "atpE"
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78 },
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79 {
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|
80 "fraction": 0.0,
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81 "cutoff": 0,
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82 "locus_tag": "EBG00000313325",
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83 "gene": "rrs"
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|
84 },
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85 {
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|
86 "fraction": 0.0,
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87 "cutoff": 0,
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88 "locus_tag": "EBG00000313339",
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89 "gene": "rrl"
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|
90 },
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91 {
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|
92 "fraction": 0.0,
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93 "cutoff": 0,
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94 "locus_tag": "Rv1483",
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|
95 "gene": "fabG1"
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|
96 },
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97 {
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|
98 "fraction": 0.0,
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99 "cutoff": 0,
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100 "locus_tag": "Rv1484",
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101 "gene": "inhA"
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|
102 },
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|
103 {
|
|
104 "fraction": 0.0,
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105 "cutoff": 0,
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106 "locus_tag": "Rv1630",
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|
107 "gene": "rpsA"
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|
108 },
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109 {
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|
110 "fraction": 0.0,
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111 "cutoff": 0,
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112 "locus_tag": "Rv1694",
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113 "gene": "tlyA"
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|
114 },
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115 {
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|
116 "fraction": 0.0,
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117 "cutoff": 0,
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118 "locus_tag": "Rv1908c",
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|
119 "gene": "katG"
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|
120 },
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121 {
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|
122 "fraction": 0.0,
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123 "cutoff": 0,
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124 "locus_tag": "Rv2043c",
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|
125 "gene": "pncA"
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|
126 },
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|
127 {
|
|
128 "fraction": 0.0,
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129 "cutoff": 0,
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130 "locus_tag": "Rv2245",
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|
131 "gene": "kasA"
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|
132 },
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133 {
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|
134 "fraction": 0.0,
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135 "cutoff": 0,
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136 "locus_tag": "Rv2416c",
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|
137 "gene": "eis"
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|
138 },
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139 {
|
|
140 "fraction": 0.0,
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141 "cutoff": 0,
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142 "locus_tag": "Rv2428",
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|
143 "gene": "ahpC"
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|
144 },
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145 {
|
|
146 "fraction": 0.0,
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|
147 "cutoff": 0,
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|
148 "locus_tag": "Rv2447c",
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|
149 "gene": "folC"
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|
150 },
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|
151 {
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|
152 "fraction": 0.0,
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153 "cutoff": 0,
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|
154 "locus_tag": "Rv2535c",
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|
155 "gene": "pepQ"
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|
156 },
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157 {
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|
158 "fraction": 0.0,
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|
159 "cutoff": 0,
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|
160 "locus_tag": "Rv2671",
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|
161 "gene": "ribD"
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|
162 },
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|
163 {
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|
164 "fraction": 0.0,
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165 "cutoff": 0,
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|
166 "locus_tag": "Rv2754c",
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|
167 "gene": "thyX"
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|
168 },
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169 {
|
|
170 "fraction": 0.0,
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|
171 "cutoff": 0,
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|
172 "locus_tag": "Rv2764c",
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|
173 "gene": "thyA"
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|
174 },
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175 {
|
|
176 "fraction": 0.0,
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|
177 "cutoff": 0,
|
|
178 "locus_tag": "Rv2780",
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|
179 "gene": "ald"
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|
180 },
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|
181 {
|
|
182 "fraction": 0.0,
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|
183 "cutoff": 0,
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184 "locus_tag": "Rv2983",
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|
185 "gene": "fbiD"
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|
186 },
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|
187 {
|
|
188 "fraction": 0.0,
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|
189 "cutoff": 0,
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190 "locus_tag": "Rv3261",
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|
191 "gene": "fbiA"
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|
192 },
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|
193 {
|
|
194 "fraction": 0.0,
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|
195 "cutoff": 0,
|
|
196 "locus_tag": "Rv3262",
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|
197 "gene": "fbiB"
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|
198 },
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|
199 {
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|
200 "fraction": 0.0,
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201 "cutoff": 0,
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|
202 "locus_tag": "Rv3423c",
|
|
203 "gene": "alr"
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|
204 },
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205 {
|
|
206 "fraction": 0.0,
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|
207 "cutoff": 0,
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|
208 "locus_tag": "Rv3547",
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|
209 "gene": "ddn"
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|
210 },
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|
211 {
|
|
212 "fraction": 0.0,
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|
213 "cutoff": 0,
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|
214 "locus_tag": "Rv3601c",
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|
215 "gene": "panD"
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|
216 },
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217 {
|
|
218 "fraction": 0.0,
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|
219 "cutoff": 0,
|
|
220 "locus_tag": "Rv3793",
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|
221 "gene": "embC"
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|
222 },
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223 {
|
|
224 "fraction": 0.0,
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|
225 "cutoff": 0,
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|
226 "locus_tag": "Rv3794",
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|
227 "gene": "embA"
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|
228 },
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|
229 {
|
|
230 "fraction": 0.0,
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|
231 "cutoff": 0,
|
|
232 "locus_tag": "Rv3795",
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|
233 "gene": "embB"
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|
234 },
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235 {
|
|
236 "fraction": 0.0,
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|
237 "cutoff": 0,
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|
238 "locus_tag": "Rv3806c",
|
|
239 "gene": "ubiA"
|
|
240 },
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|
241 {
|
|
242 "fraction": 0.0,
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|
243 "cutoff": 0,
|
|
244 "locus_tag": "Rv3854c",
|
|
245 "gene": "ethA"
|
|
246 },
|
|
247 {
|
|
248 "fraction": 0.0,
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|
249 "cutoff": 0,
|
|
250 "locus_tag": "Rv3855",
|
|
251 "gene": "ethR"
|
|
252 },
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|
253 {
|
|
254 "fraction": 0.0,
|
|
255 "cutoff": 0,
|
|
256 "locus_tag": "Rv3919c",
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|
257 "gene": "gid"
|
|
258 }
|
|
259 ],
|
|
260 "missing_positions": []
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261 },
|
|
262 "delly": "success",
|
|
263 "lineage": [
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|
264 {
|
|
265 "lin": "lineage4",
|
|
266 "family": "Euro-American",
|
|
267 "spoligotype": "LAM;T;S;X;H",
|
|
268 "rd": "None",
|
|
269 "frac": 1.0
|
|
270 },
|
|
271 {
|
|
272 "lin": "lineage4.5",
|
|
273 "family": "Euro-American",
|
|
274 "spoligotype": "H;T",
|
|
275 "rd": "RD122",
|
|
276 "frac": 1.0
|
|
277 }
|
|
278 ],
|
|
279 "main_lin": "lineage4",
|
|
280 "sublin": "lineage4.5",
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|
281 "dr_variants": [
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282 {
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|
283 "chrom": "Chromosome",
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284 "genome_pos": 761155,
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285 "ref": "C",
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|
286 "alt": "T",
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|
287 "freq": 1.0,
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|
288 "feature_id": "CCP43410",
|
|
289 "type": "missense_variant",
|
|
290 "nucleotide_change": "c.1349C>T",
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|
291 "protein_change": "p.Ser450Leu",
|
|
292 "annotation": [
|
|
293 {
|
|
294 "type": "resistance_association_confidence",
|
|
295 "drug": "rifampicin",
|
|
296 "confidence": "high"
|
|
297 }
|
|
298 ],
|
|
299 "alternate_consequences": [],
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|
300 "change": "p.Ser450Leu",
|
|
301 "locus_tag": "Rv0667",
|
|
302 "gene": "rpoB",
|
|
303 "drugs": [
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|
304 {
|
|
305 "type": "drug",
|
|
306 "drug": "rifampicin",
|
|
307 "confers": "resistance",
|
|
308 "literature": "10.1128/AAC.01093-18"
|
|
309 }
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|
310 ]
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|
311 },
|
|
312 {
|
|
313 "chrom": "Chromosome",
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|
314 "genome_pos": 1674048,
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|
315 "ref": "G",
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|
316 "alt": "A",
|
|
317 "freq": 1.0,
|
|
318 "feature_id": "CCP44244",
|
|
319 "type": "upstream_gene_variant",
|
|
320 "nucleotide_change": "c.-154G>A",
|
|
321 "protein_change": "",
|
|
322 "annotation": [],
|
|
323 "alternate_consequences": [],
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|
324 "change": "c.-154G>A",
|
|
325 "locus_tag": "Rv1484",
|
|
326 "gene": "inhA",
|
|
327 "drugs": [
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|
328 {
|
|
329 "type": "drug",
|
|
330 "drug": "isoniazid",
|
|
331 "confers": "resistance",
|
|
332 "literature": "https://www.who.int/publications/i/item/9789240028173"
|
|
333 },
|
|
334 {
|
|
335 "type": "drug",
|
|
336 "drug": "ethionamide",
|
|
337 "confers": "resistance",
|
|
338 "literature": "https://www.who.int/publications/i/item/9789240028173"
|
|
339 }
|
|
340 ]
|
|
341 }
|
|
342 ],
|
|
343 "other_variants": [
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|
344 {
|
|
345 "chrom": "Chromosome",
|
|
346 "genome_pos": 7362,
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|
347 "ref": "G",
|
|
348 "alt": "C",
|
|
349 "freq": 1.0,
|
|
350 "feature_id": "CCP42728",
|
|
351 "type": "missense_variant",
|
|
352 "nucleotide_change": "c.61G>C",
|
|
353 "protein_change": "p.Glu21Gln",
|
|
354 "alternate_consequences": [],
|
|
355 "change": "p.Glu21Gln",
|
|
356 "locus_tag": "Rv0006",
|
|
357 "gene": "gyrA",
|
|
358 "gene_associated_drugs": [
|
|
359 "levofloxacin",
|
|
360 "ciprofloxacin",
|
|
361 "ofloxacin",
|
|
362 "moxifloxacin",
|
|
363 "fluoroquinolones"
|
|
364 ]
|
|
365 },
|
|
366 {
|
|
367 "chrom": "Chromosome",
|
|
368 "genome_pos": 7585,
|
|
369 "ref": "G",
|
|
370 "alt": "C",
|
|
371 "freq": 1.0,
|
|
372 "feature_id": "CCP42728",
|
|
373 "type": "missense_variant",
|
|
374 "nucleotide_change": "c.284G>C",
|
|
375 "protein_change": "p.Ser95Thr",
|
|
376 "annotation": [
|
|
377 {
|
|
378 "type": "phylogenetic_mutation",
|
|
379 "lineage": "lineage4"
|
|
380 }
|
|
381 ],
|
|
382 "alternate_consequences": [],
|
|
383 "change": "p.Ser95Thr",
|
|
384 "locus_tag": "Rv0006",
|
|
385 "gene": "gyrA",
|
|
386 "gene_associated_drugs": [
|
|
387 "levofloxacin",
|
|
388 "ciprofloxacin",
|
|
389 "ofloxacin",
|
|
390 "moxifloxacin",
|
|
391 "fluoroquinolones"
|
|
392 ]
|
|
393 },
|
|
394 {
|
|
395 "chrom": "Chromosome",
|
|
396 "genome_pos": 7892,
|
|
397 "ref": "G",
|
|
398 "alt": "A",
|
|
399 "freq": 1.0,
|
|
400 "feature_id": "CCP42728",
|
|
401 "type": "synonymous_variant",
|
|
402 "nucleotide_change": "c.591G>A",
|
|
403 "protein_change": "p.Leu197Leu",
|
|
404 "alternate_consequences": [],
|
|
405 "change": "c.591G>A",
|
|
406 "locus_tag": "Rv0006",
|
|
407 "gene": "gyrA",
|
|
408 "gene_associated_drugs": [
|
|
409 "levofloxacin",
|
|
410 "ciprofloxacin",
|
|
411 "ofloxacin",
|
|
412 "moxifloxacin",
|
|
413 "fluoroquinolones"
|
|
414 ]
|
|
415 },
|
|
416 {
|
|
417 "chrom": "Chromosome",
|
|
418 "genome_pos": 9304,
|
|
419 "ref": "G",
|
|
420 "alt": "A",
|
|
421 "freq": 1.0,
|
|
422 "feature_id": "CCP42728",
|
|
423 "type": "missense_variant",
|
|
424 "nucleotide_change": "c.2003G>A",
|
|
425 "protein_change": "p.Gly668Asp",
|
|
426 "alternate_consequences": [],
|
|
427 "change": "p.Gly668Asp",
|
|
428 "locus_tag": "Rv0006",
|
|
429 "gene": "gyrA",
|
|
430 "gene_associated_drugs": [
|
|
431 "levofloxacin",
|
|
432 "ciprofloxacin",
|
|
433 "ofloxacin",
|
|
434 "moxifloxacin",
|
|
435 "fluoroquinolones"
|
|
436 ]
|
|
437 },
|
|
438 {
|
|
439 "chrom": "Chromosome",
|
|
440 "genome_pos": 766789,
|
|
441 "ref": "G",
|
|
442 "alt": "A",
|
|
443 "freq": 1.0,
|
|
444 "feature_id": "CCP43411",
|
|
445 "type": "synonymous_variant",
|
|
446 "nucleotide_change": "c.3420G>A",
|
|
447 "protein_change": "p.Glu1140Glu",
|
|
448 "alternate_consequences": [],
|
|
449 "change": "c.3420G>A",
|
|
450 "locus_tag": "Rv0668",
|
|
451 "gene": "rpoC",
|
|
452 "gene_associated_drugs": [
|
|
453 "rifampicin"
|
|
454 ]
|
|
455 },
|
|
456 {
|
|
457 "chrom": "Chromosome",
|
|
458 "genome_pos": 781395,
|
|
459 "ref": "T",
|
|
460 "alt": "C",
|
|
461 "freq": 1.0,
|
|
462 "feature_id": "CCP43425",
|
|
463 "type": "upstream_gene_variant",
|
|
464 "nucleotide_change": "c.-165T>C",
|
|
465 "protein_change": "",
|
|
466 "alternate_consequences": [],
|
|
467 "change": "c.-165T>C",
|
|
468 "locus_tag": "Rv0682",
|
|
469 "gene": "rpsL",
|
|
470 "gene_associated_drugs": [
|
|
471 "streptomycin"
|
|
472 ]
|
|
473 },
|
|
474 {
|
|
475 "chrom": "Chromosome",
|
|
476 "genome_pos": 1305494,
|
|
477 "ref": "CGGCCTAGCCCCGGCGACGATGCCGGGTCGCGGGATGCGGCCCGTTGAGGAGCGGGGCAATCT",
|
|
478 "alt": "C",
|
|
479 "freq": 0.21739130434782608,
|
|
480 "feature_id": "CCP43929",
|
|
481 "type": "frameshift_variant&stop_lost&splice_region_variant",
|
|
482 "nucleotide_change": "c.2565_*55delGGCCTAGCCCCGGCGACGATGCCGGGTCGCGGGATGCGGCCCGTTGAGGAGCGGGGCAATCT",
|
|
483 "protein_change": "p.Ala855fs",
|
|
484 "alternate_consequences": [],
|
|
485 "change": "c.2565_*55delGGCCTAGCCCCGGCGACGATGCCGGGTCGCGGGATGCGGCCCGTTGAGGAGCGGGGCAATCT",
|
|
486 "locus_tag": "Rv1173",
|
|
487 "gene": "fbiC",
|
|
488 "gene_associated_drugs": [
|
|
489 "delamanid"
|
|
490 ]
|
|
491 },
|
|
492 {
|
|
493 "chrom": "Chromosome",
|
|
494 "genome_pos": 1460976,
|
|
495 "ref": "C",
|
|
496 "alt": "T",
|
|
497 "freq": 1.0,
|
|
498 "feature_id": "CCP44062",
|
|
499 "type": "upstream_gene_variant",
|
|
500 "nucleotide_change": "c.-69C>T",
|
|
501 "protein_change": "",
|
|
502 "alternate_consequences": [],
|
|
503 "change": "c.-69C>T",
|
|
504 "locus_tag": "Rv1305",
|
|
505 "gene": "atpE",
|
|
506 "gene_associated_drugs": [
|
|
507 "bedaquiline"
|
|
508 ]
|
|
509 },
|
|
510 {
|
|
511 "chrom": "Chromosome",
|
|
512 "genome_pos": 1471659,
|
|
513 "ref": "C",
|
|
514 "alt": "T",
|
|
515 "freq": 1.0,
|
|
516 "feature_id": "EBG00000313325-1",
|
|
517 "type": "upstream_gene_variant",
|
|
518 "nucleotide_change": "n.-187C>T",
|
|
519 "protein_change": "",
|
|
520 "alternate_consequences": [],
|
|
521 "change": "n.-187C>T",
|
|
522 "locus_tag": "EBG00000313325",
|
|
523 "gene": "rrs",
|
|
524 "gene_associated_drugs": [
|
|
525 "aminoglycosides",
|
|
526 "streptomycin",
|
|
527 "amikacin",
|
|
528 "capreomycin",
|
|
529 "kanamycin"
|
|
530 ]
|
|
531 },
|
|
532 {
|
|
533 "chrom": "Chromosome",
|
|
534 "genome_pos": 1917972,
|
|
535 "ref": "A",
|
|
536 "alt": "G",
|
|
537 "freq": 1.0,
|
|
538 "feature_id": "CCP44459",
|
|
539 "type": "synonymous_variant",
|
|
540 "nucleotide_change": "c.33A>G",
|
|
541 "protein_change": "p.Leu11Leu",
|
|
542 "alternate_consequences": [],
|
|
543 "change": "c.33A>G",
|
|
544 "locus_tag": "Rv1694",
|
|
545 "gene": "tlyA",
|
|
546 "gene_associated_drugs": [
|
|
547 "capreomycin"
|
|
548 ]
|
|
549 },
|
|
550 {
|
|
551 "chrom": "Chromosome",
|
|
552 "genome_pos": 3073868,
|
|
553 "ref": "T",
|
|
554 "alt": "C",
|
|
555 "freq": 1.0,
|
|
556 "feature_id": "CCP45563",
|
|
557 "type": "missense_variant",
|
|
558 "nucleotide_change": "c.604A>G",
|
|
559 "protein_change": "p.Thr202Ala",
|
|
560 "alternate_consequences": [],
|
|
561 "change": "p.Thr202Ala",
|
|
562 "locus_tag": "Rv2764c",
|
|
563 "gene": "thyA",
|
|
564 "gene_associated_drugs": [
|
|
565 "para-aminosalicylic_acid"
|
|
566 ]
|
|
567 },
|
|
568 {
|
|
569 "chrom": "Chromosome",
|
|
570 "genome_pos": 4242643,
|
|
571 "ref": "C",
|
|
572 "alt": "T",
|
|
573 "freq": 1.0,
|
|
574 "feature_id": "CCP46623",
|
|
575 "type": "upstream_gene_variant",
|
|
576 "nucleotide_change": "c.-590C>T",
|
|
577 "protein_change": "",
|
|
578 "alternate_consequences": [
|
|
579 {
|
|
580 "gene_name": "embC",
|
|
581 "gene_id": "Rv3793",
|
|
582 "feature_id": "CCP46622",
|
|
583 "type": "synonymous_variant",
|
|
584 "nucleotide_change": "c.2781C>T",
|
|
585 "protein_change": "p.Arg927Arg"
|
|
586 }
|
|
587 ],
|
|
588 "change": "c.-590C>T",
|
|
589 "locus_tag": "Rv3794",
|
|
590 "gene": "embA",
|
|
591 "gene_associated_drugs": [
|
|
592 "ethambutol"
|
|
593 ]
|
|
594 },
|
|
595 {
|
|
596 "chrom": "Chromosome",
|
|
597 "genome_pos": 1305494,
|
|
598 "ref": "C",
|
|
599 "alt": "<DEL>",
|
|
600 "freq": 1.0,
|
|
601 "feature_id": "CCP43929",
|
|
602 "type": "frameshift_variant&stop_lost&splice_region_variant",
|
|
603 "nucleotide_change": "c.2565_*56delCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN",
|
|
604 "protein_change": "p.Ala855fs",
|
|
605 "alternate_consequences": [],
|
|
606 "change": "c.2565_*56delCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN",
|
|
607 "locus_tag": "Rv1173",
|
|
608 "gene": "fbiC",
|
|
609 "gene_associated_drugs": [
|
|
610 "delamanid"
|
|
611 ]
|
|
612 }
|
|
613 ],
|
|
614 "drtype": "MDR-TB",
|
|
615 "db_version": {
|
|
616 "name": "tbdb",
|
|
617 "commit": "7fc199d",
|
|
618 "Merge": "bad550a 277d053",
|
|
619 "Author": "Jody Phelan <jody.phelan@lshtm.ac.uk>",
|
|
620 "Date": "Tue Jan 25 17:21:48 2022 +0000"
|
|
621 },
|
|
622 "id": "tbprofiler",
|
|
623 "tbprofiler_version": "4.1.1",
|
|
624 "pipeline": [
|
|
625 {
|
|
626 "Analysis": "Mapping",
|
|
627 "Program": "bwa"
|
|
628 },
|
|
629 {
|
|
630 "Analysis": "Variant calling",
|
|
631 "Program": "freebayes"
|
|
632 }
|
|
633 ],
|
|
634 "timestamp": "22-10-2022 01:09:50"
|
|
635 }
|