|
7 | 7 | # |
8 | 8 | structuralVariants = { |
9 | 9 | # Unambiguous structural variations |
10 | | - "(FGFR3,BRCA2):fusion(g.1234567,g.1234567)": { |
11 | | - "matches": { |
12 | | - "displayName": ["FGFR3 fusion", "FGFR3 rearrangement"], |
13 | | - "type": ["fusion", "rearrangement"], |
| 10 | + '(FGFR3,BRCA2):fusion(g.1234567,g.1234567)': { |
| 11 | + 'matches': { |
| 12 | + 'displayName': ['FGFR3 fusion', 'FGFR3 rearrangement'], |
| 13 | + 'type': ['fusion', 'rearrangement'], |
14 | 14 | } |
15 | 15 | }, |
16 | 16 | # ambiguous structural variations -> structural |
17 | | - "FGFR3:c.1200_1300dup": { |
18 | | - "matches": { |
19 | | - "displayName": ["FGFR3 mutation", "FGFR3 rearrangement"], |
20 | | - "type": ["mutation", "rearrangement"], |
| 17 | + 'FGFR3:c.1200_1300dup': { |
| 18 | + 'matches': { |
| 19 | + 'displayName': ['FGFR3 mutation', 'FGFR3 rearrangement'], |
| 20 | + 'type': ['mutation', 'rearrangement'], |
21 | 21 | } |
22 | 22 | }, |
23 | | - "FGFR3:c.1200_1201insACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT": { |
24 | | - "matches": { |
25 | | - "displayName": ["FGFR3 mutation", "FGFR3 rearrangement"], |
26 | | - "type": ["mutation", "rearrangement"], |
| 23 | + 'FGFR3:c.1200_1201insACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT': { |
| 24 | + 'matches': { |
| 25 | + 'displayName': ['FGFR3 mutation', 'FGFR3 rearrangement'], |
| 26 | + 'type': ['mutation', 'rearrangement'], |
27 | 27 | } |
28 | 28 | }, |
29 | | - "FGFR3:g.5000_5100del": { |
30 | | - "matches": { |
31 | | - "displayName": ["FGFR3 mutation", "FGFR3 rearrangement"], |
32 | | - "type": ["mutation", "rearrangement"], |
| 29 | + 'FGFR3:g.5000_5100del': { |
| 30 | + 'matches': { |
| 31 | + 'displayName': ['FGFR3 mutation', 'FGFR3 rearrangement'], |
| 32 | + 'type': ['mutation', 'rearrangement'], |
33 | 33 | } |
34 | 34 | }, |
35 | | - "FGFR3:c.1200_1300delinsA": { |
36 | | - "matches": { |
37 | | - "displayName": ["FGFR3 mutation", "FGFR3 rearrangement"], |
38 | | - "type": ["mutation", "rearrangement"], |
| 35 | + 'FGFR3:c.1200_1300delinsA': { |
| 36 | + 'matches': { |
| 37 | + 'displayName': ['FGFR3 mutation', 'FGFR3 rearrangement'], |
| 38 | + 'type': ['mutation', 'rearrangement'], |
39 | 39 | } |
40 | 40 | }, |
41 | | - "FGFR3:c.1200delinsACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT": { |
42 | | - "matches": { |
43 | | - "displayName": ["FGFR3 mutation", "FGFR3 rearrangement"], |
44 | | - "type": ["mutation", "rearrangement"], |
| 41 | + 'FGFR3:c.1200delinsACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT': { |
| 42 | + 'matches': { |
| 43 | + 'displayName': ['FGFR3 mutation', 'FGFR3 rearrangement'], |
| 44 | + 'type': ['mutation', 'rearrangement'], |
45 | 45 | } |
46 | 46 | }, |
47 | 47 | # ambiguous structural variations -> non-structural |
48 | | - "FGFR3:c.1200dup": { |
49 | | - "matches": {"displayName": ["FGFR3 mutation"], "type": ["mutation"]}, |
50 | | - "does_not_matches": {"displayName": ["FGFR3 rearrangement"], "type": ["rearrangement"]}, |
| 48 | + 'FGFR3:c.1200dup': { |
| 49 | + 'matches': {'displayName': ['FGFR3 mutation'], 'type': ['mutation']}, |
| 50 | + 'does_not_matches': {'displayName': ['FGFR3 rearrangement'], 'type': ['rearrangement']}, |
51 | 51 | }, |
52 | | - "FGFR3:c.1200_1201insA": { |
53 | | - "matches": {"displayName": ["FGFR3 mutation"], "type": ["mutation"]}, |
54 | | - "does_not_matches": {"displayName": ["FGFR3 rearrangement"], "type": ["rearrangement"]}, |
| 52 | + 'FGFR3:c.1200_1201insA': { |
| 53 | + 'matches': {'displayName': ['FGFR3 mutation'], 'type': ['mutation']}, |
| 54 | + 'does_not_matches': {'displayName': ['FGFR3 rearrangement'], 'type': ['rearrangement']}, |
55 | 55 | }, |
56 | | - "FGFR3:g.5000del": { |
57 | | - "matches": {"displayName": ["FGFR3 mutation"], "type": ["mutation"]}, |
58 | | - "does_not_matches": {"displayName": ["FGFR3 rearrangement"], "type": ["rearrangement"]}, |
| 56 | + 'FGFR3:g.5000del': { |
| 57 | + 'matches': {'displayName': ['FGFR3 mutation'], 'type': ['mutation']}, |
| 58 | + 'does_not_matches': {'displayName': ['FGFR3 rearrangement'], 'type': ['rearrangement']}, |
59 | 59 | }, |
60 | | - "FGFR3:c.1200delinsA": { |
61 | | - "matches": {"displayName": ["FGFR3 mutation"], "type": ["mutation"]}, |
62 | | - "does_not_matches": {"displayName": ["FGFR3 rearrangement"], "type": ["rearrangement"]}, |
| 60 | + 'FGFR3:c.1200delinsA': { |
| 61 | + 'matches': {'displayName': ['FGFR3 mutation'], 'type': ['mutation']}, |
| 62 | + 'does_not_matches': {'displayName': ['FGFR3 rearrangement'], 'type': ['rearrangement']}, |
63 | 63 | }, |
64 | | - "STK11:e.1_100del": { |
65 | | - "matches": {"displayName": ["STK11 mutation"], "type": ["mutation"]}, |
66 | | - "does_not_matches": {"displayName": ["STK11 deletion"], "type": ["deletion"]}, |
| 64 | + 'STK11:e.1_100del': { |
| 65 | + 'matches': {'displayName': ['STK11 mutation'], 'type': ['mutation']}, |
| 66 | + 'does_not_matches': {'displayName': ['STK11 deletion'], 'type': ['deletion']}, |
67 | 67 | }, |
68 | | - "STK11:i.1_100del": { |
69 | | - "matches": {"displayName": ["STK11 mutation"], "type": ["mutation"]}, |
70 | | - "does_not_matches": {"displayName": ["STK11 deletion"], "type": ["deletion"]}, |
| 68 | + 'STK11:i.1_100del': { |
| 69 | + 'matches': {'displayName': ['STK11 mutation'], 'type': ['mutation']}, |
| 70 | + 'does_not_matches': {'displayName': ['STK11 deletion'], 'type': ['deletion']}, |
71 | 71 | }, |
72 | 72 | # non-structural variations |
73 | | - "FGFR3:c.1200C>A": { |
74 | | - "matches": {"displayName": ["FGFR3 mutation"], "type": ["mutation"]}, |
75 | | - "does_not_matches": {"displayName": ["FGFR3 rearrangement"], "type": ["rearrangement"]}, |
| 73 | + 'FGFR3:c.1200C>A': { |
| 74 | + 'matches': {'displayName': ['FGFR3 mutation'], 'type': ['mutation']}, |
| 75 | + 'does_not_matches': {'displayName': ['FGFR3 rearrangement'], 'type': ['rearrangement']}, |
76 | 76 | }, |
77 | 77 | } |
78 | 78 |
|
|
81 | 81 | # pos 1: expected equivalences |
82 | 82 | ensemblProteinSample = [ |
83 | 83 | ( |
84 | | - "EGFR", |
| 84 | + 'EGFR', |
85 | 85 | [ |
86 | | - "EGFR", |
87 | | - "ERBB", |
88 | | - "ENSG00000146648", |
89 | | - "ENSG00000146648.17", |
90 | | - "ENST00000275493", |
91 | | - "ENST00000275493.6", |
92 | | - "NM_001346897", |
93 | | - "NM_001346897.2", |
94 | | - "NP_001333826", |
95 | | - "NP_001333826.1", |
| 86 | + 'EGFR', |
| 87 | + 'ERBB', |
| 88 | + 'ENSG00000146648', |
| 89 | + 'ENSG00000146648.17', |
| 90 | + 'ENST00000275493', |
| 91 | + 'ENST00000275493.6', |
| 92 | + 'NM_001346897', |
| 93 | + 'NM_001346897.2', |
| 94 | + 'NP_001333826', |
| 95 | + 'NP_001333826.1', |
96 | 96 | ], |
97 | 97 | ), |
98 | 98 | ( |
99 | | - "NM_001346897", |
| 99 | + 'NM_001346897', |
100 | 100 | [ |
101 | | - "EGFR", |
102 | | - "ERBB", |
103 | | - "ENSG00000146648", |
104 | | - "ENSG00000146648.17", |
105 | | - "NM_001346897", |
106 | | - "NM_001346897.2", |
107 | | - "NP_001333826", |
108 | | - "NP_001333826.1", |
| 101 | + 'EGFR', |
| 102 | + 'ERBB', |
| 103 | + 'ENSG00000146648', |
| 104 | + 'ENSG00000146648.17', |
| 105 | + 'NM_001346897', |
| 106 | + 'NM_001346897.2', |
| 107 | + 'NP_001333826', |
| 108 | + 'NP_001333826.1', |
109 | 109 | ], |
110 | 110 | ), |
111 | 111 | ( |
112 | | - "NM_001346897.2", |
| 112 | + 'NM_001346897.2', |
113 | 113 | [ |
114 | | - "EGFR", |
115 | | - "ERBB", |
116 | | - "ENSG00000146648", |
117 | | - "ENSG00000146648.17", |
118 | | - "NM_001346897", |
119 | | - "NM_001346897.2", |
120 | | - "NP_001333826", |
121 | | - "NP_001333826.1", |
| 114 | + 'EGFR', |
| 115 | + 'ERBB', |
| 116 | + 'ENSG00000146648', |
| 117 | + 'ENSG00000146648.17', |
| 118 | + 'NM_001346897', |
| 119 | + 'NM_001346897.2', |
| 120 | + 'NP_001333826', |
| 121 | + 'NP_001333826.1', |
122 | 122 | ], |
123 | 123 | ), |
124 | 124 | ( |
125 | | - "NP_001333826", |
| 125 | + 'NP_001333826', |
126 | 126 | [ |
127 | | - "EGFR", |
128 | | - "ERBB", |
129 | | - "ENSG00000146648", # Warn: Versionized ENSG won't be returned due to API limitations |
130 | | - "NM_001346897", |
131 | | - "NM_001346897.2", |
132 | | - "NP_001333826", |
133 | | - "NP_001333826.1", |
| 127 | + 'EGFR', |
| 128 | + 'ERBB', |
| 129 | + 'ENSG00000146648', # Warn: Versionized ENSG won't be returned due to API limitations |
| 130 | + 'NM_001346897', |
| 131 | + 'NM_001346897.2', |
| 132 | + 'NP_001333826', |
| 133 | + 'NP_001333826.1', |
134 | 134 | ], |
135 | 135 | ), |
136 | 136 | ( |
137 | | - "NP_001333826.1", |
| 137 | + 'NP_001333826.1', |
138 | 138 | [ |
139 | | - "EGFR", |
140 | | - "ERBB", |
141 | | - "ENSG00000146648", # Warn: Versionized ENSG won't be returned due to API limitations |
142 | | - "NM_001346897", |
143 | | - "NM_001346897.2", |
144 | | - "NP_001333826", |
145 | | - "NP_001333826.1", |
| 139 | + 'EGFR', |
| 140 | + 'ERBB', |
| 141 | + 'ENSG00000146648', # Warn: Versionized ENSG won't be returned due to API limitations |
| 142 | + 'NM_001346897', |
| 143 | + 'NM_001346897.2', |
| 144 | + 'NP_001333826', |
| 145 | + 'NP_001333826.1', |
146 | 146 | ], |
147 | 147 | ), |
148 | 148 | ( |
149 | | - "ENSG00000146648", |
| 149 | + 'ENSG00000146648', |
150 | 150 | [ |
151 | | - "EGFR", |
152 | | - "ERBB", |
153 | | - "ENSG00000146648", |
154 | | - "ENSG00000146648.17", |
155 | | - "ENST00000275493", |
156 | | - "ENST00000275493.6", |
157 | | - "NM_001346897", |
158 | | - "NM_001346897.2", |
159 | | - "NP_001333826", # Warn: Versionized NP won't be returned due to API limitations |
| 151 | + 'EGFR', |
| 152 | + 'ERBB', |
| 153 | + 'ENSG00000146648', |
| 154 | + 'ENSG00000146648.17', |
| 155 | + 'ENST00000275493', |
| 156 | + 'ENST00000275493.6', |
| 157 | + 'NM_001346897', |
| 158 | + 'NM_001346897.2', |
| 159 | + 'NP_001333826', # Warn: Versionized NP won't be returned due to API limitations |
160 | 160 | ], |
161 | 161 | ), |
162 | 162 | ( |
163 | | - "ENSG00000146648.17", |
| 163 | + 'ENSG00000146648.17', |
164 | 164 | [ |
165 | | - "EGFR", |
166 | | - "ERBB", |
167 | | - "ENSG00000146648", |
168 | | - "ENSG00000146648.17", |
169 | | - "ENST00000275493", |
170 | | - "ENST00000275493.6", |
171 | | - "NM_001346897", |
172 | | - "NM_001346897.2", |
173 | | - "NP_001333826", # Warn: Versionized NP won't be returned due to API limitations |
| 165 | + 'EGFR', |
| 166 | + 'ERBB', |
| 167 | + 'ENSG00000146648', |
| 168 | + 'ENSG00000146648.17', |
| 169 | + 'ENST00000275493', |
| 170 | + 'ENST00000275493.6', |
| 171 | + 'NM_001346897', |
| 172 | + 'NM_001346897.2', |
| 173 | + 'NP_001333826', # Warn: Versionized NP won't be returned due to API limitations |
174 | 174 | ], |
175 | 175 | ), |
176 | 176 | ( |
177 | | - "ENST00000275493", |
| 177 | + 'ENST00000275493', |
178 | 178 | [ |
179 | | - "EGFR", |
180 | | - "ERBB", |
181 | | - "ENSG00000146648", |
182 | | - "ENSG00000146648.17", |
183 | | - "ENST00000275493", |
184 | | - "ENST00000275493.6", |
| 179 | + 'EGFR', |
| 180 | + 'ERBB', |
| 181 | + 'ENSG00000146648', |
| 182 | + 'ENSG00000146648.17', |
| 183 | + 'ENST00000275493', |
| 184 | + 'ENST00000275493.6', |
185 | 185 | ], |
186 | 186 | ), |
187 | 187 | ( |
188 | | - "ENST00000275493.6", |
| 188 | + 'ENST00000275493.6', |
189 | 189 | [ |
190 | | - "EGFR", |
191 | | - "ERBB", |
192 | | - "ENSG00000146648", |
193 | | - "ENSG00000146648.17", |
194 | | - "ENST00000275493", |
195 | | - "ENST00000275493.6", |
| 190 | + 'EGFR', |
| 191 | + 'ERBB', |
| 192 | + 'ENSG00000146648', |
| 193 | + 'ENSG00000146648.17', |
| 194 | + 'ENST00000275493', |
| 195 | + 'ENST00000275493.6', |
196 | 196 | ], |
197 | 197 | ), |
198 | 198 | ] |
0 commit comments